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 PLEC 5339 broad.mit.edu 37 8 144996316 144996316 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:144996316C>T ENST00000322810.4 - 32 8253 c.8084G>A c.(8083-8085)cGg>cAg p.R2695Q PLEC_ENST00000527096.1_Missense_Mutation_p.R2581Q|PLEC_ENST00000356346.3_Missense_Mutation_p.R2544Q|PLEC_ENST00000436759.2_Missense_Mutation_p.R2585Q|PLEC_ENST00000357649.2_Missense_Mutation_p.R2562Q|PLEC_ENST00000354589.3_Missense_Mutation_p.R2558Q|PLEC_ENST00000398774.2_Missense_Mutation_p.R2526Q|PLEC_ENST00000345136.3_Missense_Mutation_p.R2558Q|PLEC_ENST00000354958.2_Missense_Mutation_p.R2536Q NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 2695 Central fibrous rod domain. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 CTCATGCTGCCGCCGCCGCGC 0.706000 3 12 0 0 1 0 0 SMG5 23381 broad.mit.edu 37 1 156235591 156235591 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:156235591T>C ENST00000361813.5 - 12 1980 c.1836A>G c.(1834-1836)gtA>gtG p.V612V SMG5_ENST00000368267.4_Intron NM_015327.2 NP_056142.2 Q9UPR3 SMG5_HUMAN SMG5 nonsense mediated mRNA decay factor 612 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|nucleus protein phosphatase 2A binding NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 48 Hepatocellular(266;0.158) AAGGCTTGTCTACATCCCCAT 0.577000 64 199 0 0 1 0 0 CHCHD2 51142 broad.mit.edu 37 7 56171984 56171984 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:56171984C>T ENST00000395422.3 - 2 397 c.235G>A c.(235-237)Gcc>Acc p.A79T NM_016139.2 NP_057223.1 Q9Y6H1 CHCH2_HUMAN coiled-coil-helix-coiled-coil-helix domain containing 2 79 mitochondrion endometrium(1)|large_intestine(1)|lung(3) 5 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) CCAGTAATGGCGTGACCCAAT 0.602000 31 83 0 0 1 0 0 HPS5 11234 broad.mit.edu 37 11 18319255 18319255 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:18319255T>C ENST00000396253.3 - 10 1294 c.832A>G c.(832-834)Act>Gct p.T278A HPS5_ENST00000438420.2_Missense_Mutation_p.T278A|HPS5_ENST00000531848.1_Missense_Mutation_p.T278A|HPS5_ENST00000349215.3_Missense_Mutation_p.T392A NM_007216.3 NP_009147.3 Q9UPZ3 HPS5_HUMAN Hermansky-Pudlak syndrome 5 392 cytosol breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 GCAGTCAAAGTTTTTCTTGCC 0.368000 Hermansky-Pudlak syndrome 6 99 0 0 1 0 0 PAN2 9924 broad.mit.edu 37 12 56722344 56722344 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:56722344T>C ENST00000425394.2 - 3 740 c.364A>G c.(364-366)Atc>Gtc p.I122V PAN2_ENST00000257931.5_Missense_Mutation_p.I122V|PAN2_ENST00000548043.1_Missense_Mutation_p.I122V|PAN2_ENST00000440411.3_Missense_Mutation_p.I122V NM_001127460.2 NP_001120932.1 Q504Q3 PAN2_HUMAN PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) 122 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process cytosol|nucleus nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 AGGCTCTGGATCTGCCGAATA 0.468000 45 94 0 0 1 0 0 SEC24A 10802 broad.mit.edu 37 5 134002615 134002615 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:134002615C>T ENST00000398844.2 + 3 956 c.668C>T c.(667-669)gCc>gTc p.A223V SEC24A_ENST00000322887.4_Missense_Mutation_p.A223V NM_021982.2 NP_068817.1 O95486 SC24A_HUMAN SEC24 family member A 223 Pro-rich. COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm zinc ion binding NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CCAGTGAGGGCCCTCACGCCC 0.517000 17 104 0 0 1 0 0 MAP3K3 4215 broad.mit.edu 37 17 61770959 61770959 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:61770959C>T ENST00000361357.3 + 17 2114 c.1796C>T c.(1795-1797)gCa>gTa p.A599V MAP3K3_ENST00000579585.1_Missense_Mutation_p.A599V|MAP3K3_ENST00000577395.1_Missense_Mutation_p.A564V|MAP3K3_ENST00000361733.3_Missense_Mutation_p.A568V|MAP3K3_ENST00000584573.1_Missense_Mutation_p.A595V NM_203351.1 NP_976226.1 Q99759 M3K3_HUMAN mitogen-activated protein kinase kinase kinase 3 568 Protein kinase. MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation cytosol ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 28 CCACCGTGGGCAGAGTATGAA 0.602000 35 107 0 0 1 0 0 C3orf17 25871 broad.mit.edu 37 3 112730221 112730221 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:112730221A>G ENST00000314400.5 - 6 775 c.584T>C c.(583-585)aTt>aCt p.I195T C3orf17_ENST00000393857.2_Missense_Mutation_p.I59T|C3orf17_ENST00000383675.2_Missense_Mutation_p.I125T NM_015412.3 NP_056227.2 Q6NW34 CC017_HUMAN chromosome 3 open reading frame 17 195 integral to membrane central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1) 13 ATATAACAAAATCAACCTTTT 0.343000 41 100 0 0 1 0 0 SCUBE3 222663 broad.mit.edu 37 6 35205733 35205733 + Missense_Mutation SNP C C T rs17854740 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:35205733C>T ENST00000274938.7 + 7 767 c.767C>T c.(766-768)aCt>aTt p.T256I SCUBE3_ENST00000394681.1_Missense_Mutation_p.T272I NM_152753.2 NP_689966.2 Q8IX30 SCUB3_HUMAN signal peptide, CUB domain, EGF-like 3 256 EGF-like 6. T -> I (in Ref. 6; AAH52263). protein heterooligomerization|protein homooligomerization cell surface|extracellular region calcium ion binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 37 GATGCAGCGACTGGTGTCCAC 0.547000 41 114 0 0 1 0 0 PARP12 64761 broad.mit.edu 37 7 139756833 139756833 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:139756833A>G ENST00000263549.3 - 3 1456 c.583T>C c.(583-585)Tgt>Cgt p.C195R NM_022750.2 NP_073587.1 Q9H0J9 PAR12_HUMAN poly (ADP-ribose) polymerase family, member 12 195 nucleus NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1) 19 Melanoma(164;0.0142) GATCTCTTACAGCTAGTGCCA 0.458000 42 111 0 0 1 0 0 UGT1A3 54659 broad.mit.edu 37 2 234638471 234638471 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:234638471C>T ENST00000482026.1 + 1 718 c.699C>T c.(697-699)agC>agT p.S233S UGT1A5_ENST00000373414.3_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000480628.1_Intron NM_019093.2 NP_061966.1 breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 46 Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128) Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599) CTTATGCAAGCCTTGCCTCTG 0.493000 29 323 0 0 1 0 0 NIPBL 25836 broad.mit.edu 37 5 36986173 36986173 + Missense_Mutation SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:36986173A>T ENST00000282516.8 + 10 3390 c.2891A>T c.(2890-2892)gAt>gTt p.D964V NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Missense_Mutation_p.D964V NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 964 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) ATCAAGAGGGATAAAGATGGC 0.368000 34 129 0 0 1 0 0 KDM4B 23030 broad.mit.edu 37 19 5047569 5047569 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:5047569T>C ENST00000159111.4 + 6 733 c.515T>C c.(514-516)gTg>gCg p.V172A KDM4B_ENST00000592175.1_3'UTR|KDM4B_ENST00000536461.1_Missense_Mutation_p.V172A|KDM4B_ENST00000381759.4_Missense_Mutation_p.V172A NM_015015.2 NP_055830.1 O94953 KDM4B_HUMAN lysine (K)-specific demethylase 4B 172 JmjC. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 ATCGAGGGCGTGAACACGCCC 0.622000 46 117 0 0 1 0 0 ATM 472 broad.mit.edu 37 11 108225545 108225545 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:108225545G>A ENST00000278616.4 + 61 9179 c.8794G>A c.(8794-8796)Gag>Aag p.E2932K C11orf65_ENST00000526725.1_Intron|ATM_ENST00000452508.2_Missense_Mutation_p.E2932K|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000525178.1_3'UTR NM_000051.3 NP_000042.3 Q13315 ATM_HUMAN ataxia telangiectasia mutated 2932 PI3K/PI4K. cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) TAGATGCTGTGAGAAAACCAT 0.343000 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 46 125 0 0 1 0 0 C12orf50 160419 broad.mit.edu 37 12 88379796 88379796 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:88379796A>G ENST00000298699.2 - 11 1137 c.957T>C c.(955-957)agT>agC p.S319S C12orf50_ENST00000550553.1_Silent_p.S280S NM_152589.1 NP_689802.1 Q8NA57 CL050_HUMAN chromosome 12 open reading frame 50 319 NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2) 34 TGCGGTGATAACTCATTTTAT 0.438000 35 131 0 0 1 0 0 KAZALD1 81621 broad.mit.edu 37 10 102824394 102824394 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:102824394T>C ENST00000370200.5 + 4 1135 c.809T>C c.(808-810)gTg>gCg p.V270A NM_030929.4 NP_112191.2 Q96I82 KAZD1_HUMAN Kazal-type serine peptidase inhibitor domain 1 270 cell differentiation|multicellular organismal development|ossification|regulation of cell growth insulin-like growth factor binding endometrium(1)|ovary(1)|prostate(2) 4 Epithelial(162;6.21e-09)|all cancers(201;3.14e-07) AGCTTGACAGTGCTCACACCT 0.567000 20 59 0 0 1 0 0 FRY 10129 broad.mit.edu 37 13 32698424 32698424 + Splice_Site SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr13:32698424G>A ENST00000380250.3 + 5 962 c.464_splice c.e5-1 p.D156_splice NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) 156 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) ATTTTACAGCGATGAACAACA 0.313000 5 38 0 0 1 0 0 GNB1 2782 broad.mit.edu 37 1 1721839 1721839 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:1721839T>C ENST00000378609.4 - 9 1025 c.694A>G c.(694-696)Att>Gtt p.I232V NM_002074.3 NP_002065.1 P62873 GBB1_HUMAN guanine nucleotide binding protein (G protein), beta polypeptide 1 232 cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|Ras protein signal transduction|synaptic transmission heterotrimeric G-protein complex GTPase activity|GTPase binding|signal transducer activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1) 12 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236) CTCACGCAAATGGCATTGATG 0.522000 4 76 0 0 1 0 0 TFRC 7037 broad.mit.edu 37 3 195785204 195785204 + Missense_Mutation SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:195785204G>T ENST00000360110.4 - 16 1797 c.1628C>A c.(1627-1629)cCt>cAt p.P543H TFRC_ENST00000420415.1_Missense_Mutation_p.P462H|TFRC_ENST00000392396.3_Missense_Mutation_p.P543H|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000535031.1_Missense_Mutation_p.P261H|TFRC_ENST00000465288.1_5'UTR NM_001128148.1 NP_001121620.1 P02786 TFR1_HUMAN transferrin receptor 543 cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport coated pit|endosome|integral to plasma membrane|melanosome peptidase activity|transferrin receptor activity NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00233) TGCAAGGAAAGGGAAAGCAGC 0.388000 T BCL6 NHL 46 142 1.15181e-12 1.20023e-12 1 1 0 KIT 3815 broad.mit.edu 37 4 55561942 55561942 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:55561942T>C ENST00000288135.5 + 2 429 c.332T>C c.(331-333)gTt>gCt p.V111A NM_000222.2|NM_001093772.1 NP_000213.1|NP_001087241.1 P10721 KIT_HUMAN v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog 111 Ig-like C2-type 1. male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway extracellular space|integral to membrane ATP binding|protein binding|receptor signaling protein tyrosine kinase activity NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1) 6411 all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209) Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171) Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) TATGTGTTTGTTAGAGGTAAA 0.408000 1 """Mis, O""" """GIST, AML, TGCT, mastocytosis, mucosal melanoma""" """GIST, epithelioma""" Piebald trait Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors 14 36 0 0 1 0 0 NRP2 8828 broad.mit.edu 37 2 206592754 206592754 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:206592754A>G ENST00000360409.3 + 7 1921 c.1130A>G c.(1129-1131)cAt>cGt p.H377R NRP2_ENST00000357785.5_Missense_Mutation_p.H377R|NRP2_ENST00000417189.1_Missense_Mutation_p.H377R|NRP2_ENST00000357118.4_Missense_Mutation_p.H377R|NRP2_ENST00000540178.1_Missense_Mutation_p.H377R|NRP2_ENST00000355117.4_Missense_Mutation_p.H377R|NRP2_ENST00000540841.1_Missense_Mutation_p.H377R|NRP2_ENST00000412873.2_Missense_Mutation_p.H377R|NRP2_ENST00000272849.3_Missense_Mutation_p.H377R NM_003872.2|NM_201266.1|NM_201279.1 NP_003863.2|NP_957718.1|NP_958436.1 O60462 NRP2_HUMAN neuropilin 2 377 F5/8 type C 1. angiogenesis|axon guidance|cell adhesion integral to membrane|membrane fraction|plasma membrane heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 52 GTGTACCGGCATGGCAAAAAC 0.502000 21 52 0 0 1 0 0 MEGF9 1955 broad.mit.edu 37 9 123367647 123367647 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:123367647G>A ENST00000373930.3 - 6 1741 c.1630C>T c.(1630-1632)Cgg>Tgg p.R544W MEGF9_ENST00000426959.1_Missense_Mutation_p.R581W NM_001080497.2 NP_001073966.2 Q9H1U4 MEGF9_HUMAN multiple EGF-like-domains 9 544 integral to membrane calcium ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1) 16 TTGAGTTTCCGGTTTTGGTAC 0.443000 38 135 0 0 1 0 0 CD320 51293 broad.mit.edu 37 19 8369979 8369979 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:8369979C>T ENST00000301458.5 - 2 268 c.204G>A c.(202-204)gtG>gtA p.V68V CD320_ENST00000537716.2_Intron NM_016579.3 NP_057663.1 Q9NPF0 CD320_HUMAN CD320 molecule 68 LDL-receptor class A 1. regulation of cell growth endoplasmic reticulum|integral to membrane growth factor activity central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2) 6 AGGTGAGGGGCACGCATAAGC 0.652000 9 25 0 0 1 0 0 GPNMB 10457 broad.mit.edu 37 7 23293794 23293794 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:23293794G>A ENST00000258733.4 + 3 525 c.230G>A c.(229-231)cGt>cAt p.R77H GPNMB_ENST00000453162.2_Missense_Mutation_p.R77H|GPNMB_ENST00000381990.2_Missense_Mutation_p.R77H|GPNMB_ENST00000409458.3_Missense_Mutation_p.R77H|GPNMB_ENST00000539136.1_Intron Q14956 GPNMB_HUMAN glycoprotein (transmembrane) nmb 77 negative regulation of cell proliferation melanosome breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2) 41 GBM - Glioblastoma multiforme(13;0.154) CTAGGAGGCCGTGTGCAGGCG 0.463000 48 140 0 0 1 0 0 ACACB 32 broad.mit.edu 37 12 109675039 109675039 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:109675039C>T ENST00000338432.7 + 34 4635 c.4516C>T c.(4516-4518)Cgt>Tgt p.R1506C ACACB_ENST00000543201.1_Missense_Mutation_p.R172C|ACACB_ENST00000377848.3_Missense_Mutation_p.R1506C|ACACB_ENST00000377854.5_Missense_Mutation_p.R1436C O00763 ACACB_HUMAN acetyl-CoA carboxylase beta 1506 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 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) TAACCGGATGCGTAACTTCGA 0.547000 64 110 0 0 1 0 0 PCDHA1 56147 broad.mit.edu 37 5 140166205 140166205 + Silent SNP C C T rs138474048 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:140166205C>T ENST00000504120.2 + 1 330 c.330C>T c.(328-330)gcC>gcT p.A110A PCDHA1_ENST00000378133.3_Silent_p.A110A|PCDHA1_ENST00000394633.3_Silent_p.A110A NM_018900.2 NP_061723.1 breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3) 70 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGTTGATCGCCGACAGGCCGC 0.498000 44 147 0 0 1 0 0 SLC9A7P1 121456 broad.mit.edu 37 12 98849370 98849370 + RNA SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:98849370G>T ENST00000554295.1 - 0 1553 NR_033801.1 TGAAGAACACGATGAAAGGCG 0.522000 3 26 0.115264 0.1157 1 1 0 EPS15 2060 broad.mit.edu 37 1 51938592 51938592 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:51938592A>G ENST00000371733.3 - 3 200 c.104T>C c.(103-105)tTg>tCg p.L35S EPS15_ENST00000371730.2_Missense_Mutation_p.L35S NM_001981.2 NP_001972.1 P42566 EPS15_HUMAN epidermal growth factor receptor pathway substrate 15 35 EH 1. cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport cytosol|early endosome membrane calcium ion binding|SH3 domain binding p.0?(1) endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2) 35 ATCAGAAGCCAACACCCTTCC 0.373000 T MLL ALL 49 125 0 0 1 0 0 CDH18 1016 broad.mit.edu 37 5 19571743 19571743 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:19571743T>C ENST00000507958.1 - 10 2188 c.1198A>G c.(1198-1200)Acc>Gcc p.T400A CDH18_ENST00000506372.1_Missense_Mutation_p.T400A|CDH18_ENST00000511273.1_Missense_Mutation_p.T400A|CDH18_ENST00000502796.1_Missense_Mutation_p.T400A|CDH18_ENST00000274170.4_Missense_Mutation_p.T400A|CDH18_ENST00000382275.1_Missense_Mutation_p.T400A Q13634 CAD18_HUMAN cadherin 18, type 2 400 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) CCAACGACGGTCCCAATCTTG 0.418000 18 85 0 0 1 0 0 LNX2 222484 broad.mit.edu 37 13 28155586 28155586 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr13:28155586C>T ENST00000316334.3 - 2 384 c.255G>A c.(253-255)ccG>ccA p.P85P NM_153371.3 NP_699202.1 Q8N448 LNX2_HUMAN ligand of numb-protein X 2 85 zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 31 Lung SC(185;0.0156) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248) TCCGGTCCAACGGACAGAAAT 0.388000 14 44 0 0 1 0 0 SLC35F4 341880 broad.mit.edu 37 14 58055944 58055944 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:58055944T>C ENST00000556826.1 - 3 813 c.577A>G c.(577-579)Aaa>Gaa p.K193E SLC35F4_ENST00000339762.6_Missense_Mutation_p.K229E|SLC35F4_ENST00000554729.1_Missense_Mutation_p.K70E NM_001206920.1 NP_001193849.1 solute carrier family 35, member F4 breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 CTGAATTTTTTCATTGGAGAT 0.328000 16 83 0 0 1 0 0 PLG 5340 broad.mit.edu 37 6 161134060 161134060 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:161134060C>T ENST00000308192.9 + 5 513 c.450C>T c.(448-450)aaC>aaT p.N150N PLG_ENST00000462918.1_3'UTR NM_000301.3 NP_000292.1 P00747 PLMN_HUMAN plasminogen 150 Kringle 1. extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1) 59 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) TGGAGGAGAACTACTGCAGGA 0.473000 34 146 0 0 1 0 0 FSCN3 29999 broad.mit.edu 37 7 127236487 127236487 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:127236487A>G ENST00000265825.5 + 3 1166 c.947A>G c.(946-948)tAc>tGc p.Y316C FSCN3_ENST00000420086.2_Missense_Mutation_p.Y182C NM_020369.2 NP_065102.1 Q9NQT6 FSCN3_HUMAN fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus) 316 actin cytoskeleton|cytoplasm actin filament binding|protein binding, bridging endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 30 GCCAATGGCTACTACCTATCC 0.507000 4 201 0 0 1 0 0 AXL 558 broad.mit.edu 37 19 41745209 41745209 + Silent SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:41745209C>A ENST00000301178.4 + 9 1465 c.1275C>A c.(1273-1275)gcC>gcA p.A425A AXL_ENST00000359092.3_Silent_p.A425A|AXL_ENST00000593513.1_Silent_p.A157A NM_001278599.1|NM_021913.3 NP_001265528.1|NP_068713.2 P30530 UFO_HUMAN AXL receptor tyrosine kinase 425 Fibronectin type-III 2. integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1) 48 CCCTGGAGGCCTGGCGCCCAG 0.597000 24 94 1.55469e-16 1.63288e-16 1 1 0 MPHOSPH9 10198 broad.mit.edu 37 12 123705975 123705975 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:123705975T>C ENST00000606320.1 - 5 1022 c.816A>G c.(814-816)gaA>gaG p.E272E MPHOSPH9_ENST00000392425.3_Silent_p.E120E|MPHOSPH9_ENST00000541076.2_Silent_p.E242E|MPHOSPH9_ENST00000302349.5_Silent_p.E120E Q99550 MPP9_HUMAN M-phase phosphoprotein 9 120 M phase of mitotic cell cycle centriole|Golgi membrane NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1) 33 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169) GAAAATTATGTTCAAATTCAC 0.313000 9 81 0 0 1 0 0 KIAA0100 9703 broad.mit.edu 37 17 26965397 26965397 + Missense_Mutation SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:26965397C>A ENST00000528896.2 - 13 1459 c.1385G>T c.(1384-1386)cGg>cTg p.R462L KIAA0100_ENST00000389003.3_Missense_Mutation_p.R319L|KIAA0100_ENST00000544884.1_Missense_Mutation_p.R319L NM_014680.3 NP_055495.2 Q14667 K0100_HUMAN KIAA0100 462 extracellular region breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3) 68 Lung NSC(42;0.00431) TAGGACGCCCCGCTGATGGAT 0.577000 5 72 0.0293803 0.0295309 1 1 0 ZNF716 441234 broad.mit.edu 37 7 57528841 57528841 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:57528841C>T ENST00000420713.1 + 4 786 c.674C>T c.(673-675)tCt>tTt p.S225F NM_001159279.1 NP_001152751.1 zinc finger protein 716 breast(1)|kidney(1)|lung(20)|ovary(2) 24 TTTAACTGCTCTTCAACCCTT 0.378000 4 27 0 0 1 0 0 TAS2R42 353164 broad.mit.edu 37 12 11338810 11338810 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:11338810A>G ENST00000334266.1 - 1 733 c.734T>C c.(733-735)gTt>gCt p.V245A NM_181429.1 NP_852094.1 Q7RTR8 T2R42_HUMAN taste receptor, type 2, member 42 245 sensory perception of taste integral to membrane G-protein coupled receptor activity breast(1)|kidney(2)|lung(4)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(49;0.0455) AAAAAAATGAACTATGAAGAG 0.408000 4 144 0 0 1 0 0 PCDH12 51294 broad.mit.edu 37 5 141335448 141335448 + Missense_Mutation SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:141335448A>T ENST00000231484.3 - 1 3179 c.1969T>A c.(1969-1971)Ttc>Atc p.F657I NM_016580.2 NP_057664.1 Q9NPG4 PCD12_HUMAN protocadherin 12 657 Cadherin 6. neuron recognition integral to plasma membrane calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1) 38 all_hematologic(541;0.0999) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACATTGACGAACAGCTGCCCC 0.572000 12 45 0 0 1 0 0 RGL2 5863 broad.mit.edu 37 6 33264477 33264477 + Missense_Mutation SNP T T A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:33264477T>A ENST00000497454.1 - 4 812 c.317A>T c.(316-318)gAt>gTt p.D106V RGL2_ENST00000444031.2_Missense_Mutation_p.D24V|PFDN6_ENST00000463584.1_Intron|RGL2_ENST00000437840.2_5'UTR NM_001243738.1|NM_004761.4 NP_001230667.1|NP_004752.1 O15211 RGL2_HUMAN ral guanine nucleotide dissociation stimulator-like 2 106 N-terminal Ras-GEF. Ras protein signal transduction|regulation of small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 34 TGTCCGGGTATCCAGTAGGTG 0.612000 22 68 0 0 1 0 0 TBCE 6905 broad.mit.edu 37 1 235600692 235600692 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:235600692T>C ENST00000543662.1 + 13 1278 c.1172T>C c.(1171-1173)cTa>cCa p.L391P TBCE_ENST00000406207.1_Missense_Mutation_p.L340P|TBCE_ENST00000366601.3_Missense_Mutation_p.L340P|TBCE_ENST00000472011.1_3'UTR Q15813 TBCE_HUMAN tubulin folding cofactor E 340 'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway cytoplasm|microtubule|nucleus|plasma membrane chaperone binding NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 14 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238) OV - Ovarian serous cystadenocarcinoma(106;2.56e-05) TTGTCCTGCCTAAGAAACCCC 0.473000 25 87 0 0 1 0 0 HNF4G 3174 broad.mit.edu 37 8 76452267 76452267 + Missense_Mutation SNP T T G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:76452267T>G ENST00000396423.2 + 1 164 c.40T>G c.(40-42)Tac>Gac p.Y14D HNF4G_ENST00000354370.1_Intron NM_004133.4 NP_004124.4 Q14541 HNF4G_HUMAN hepatocyte nuclear factor 4, gamma 0 endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 Breast(64;0.0448) BRCA - Breast invasive adenocarcinoma(89;0.161) GGACCCAACTTACACAACTTT 0.348000 46 146 0 0 1 0 0 RAB37 326624 broad.mit.edu 37 17 72739307 72739307 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:72739307A>G ENST00000340415.3 + 4 1274 c.265A>G c.(265-267)Acc>Gcc p.T89A RAB37_ENST00000392613.5_Missense_Mutation_p.T96A|RAB37_ENST00000392615.5_Missense_Mutation_p.T64A|RAB37_ENST00000392614.4_Missense_Mutation_p.T101A|RAB37_ENST00000392610.1_Missense_Mutation_p.T96A|RAB37_ENST00000528438.1_Missense_Mutation_p.T69A|RAB37_ENST00000392612.3_Missense_Mutation_p.T59A|RAB37_ENST00000402449.4_Missense_Mutation_p.T89A NM_175738.4 NP_783865.1 Q96AX2 RAB37_HUMAN RAB37, member RAS oncogene family 96 protein transport|small GTPase mediated signal transduction ER-Golgi intermediate compartment GTP binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1) 12 CCGAAGCGTCACCCATGCTTA 0.592000 49 141 0 0 1 0 0 FOCAD 54914 broad.mit.edu 37 9 20951005 20951005 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:20951005T>C ENST00000380249.1 + 36 4323 c.3959T>C c.(3958-3960)gTc>gCc p.V1320A FOCAD_ENST00000605086.1_Missense_Mutation_p.V756A|FOCAD_ENST00000338382.6_Missense_Mutation_p.V1320A NM_017794.3 NP_060264.3 Q5VW36 K1797_HUMAN focadhesin 1320 integral to membrane binding GTCATTAGTGTCTCTGGGGTG 0.398000 35 122 0 0 1 0 0 HRASLS2 54979 broad.mit.edu 37 11 63326018 63326018 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:63326018T>C ENST00000255695.1 - 3 291 c.233A>G c.(232-234)aAc>aGc p.N78S NM_017878.1 NP_060348.1 Q9NWW9 HRSL2_HUMAN HRAS-like suppressor 2 78 lipid catabolic process cytoplasm acyltransferase activity|hydrolase activity breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1) 6 ATCGTGCTTGTTATTGACCCT 0.547000 20 153 0 0 1 0 0 SIPA1L2 57568 broad.mit.edu 37 1 232649899 232649899 + Missense_Mutation SNP T T A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:232649899T>A ENST00000366630.1 - 2 1545 c.1187A>T c.(1186-1188)gAt>gTt p.D396V SIPA1L2_ENST00000262861.4_Missense_Mutation_p.D396V Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 2 396 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 103 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) ATCACCCTCATCGGCATCCAG 0.552000 67 235 0 0 1 0 0 SLC22A11 55867 broad.mit.edu 37 11 64331799 64331799 + Missense_Mutation SNP C C T rs142048527 by1000genomes TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:64331799C>T ENST00000301891.4 + 5 1215 c.841C>T c.(841-843)Cgg>Tgg p.R281W SLC22A11_ENST00000377581.3_Missense_Mutation_p.R281W|SLC22A11_ENST00000490834.1_Intron|SLC22A11_ENST00000377585.3_Missense_Mutation_p.R281W NM_018484.2 NP_060954.1 Q9NSA0 S22AB_HUMAN solute carrier family 22 (organic anion/urate transporter), member 11 281 urate metabolic process apical plasma membrane|external side of plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 23 Probenecid(DB01032) AGAATCCGCCCGGTGGCTGAT 0.602000 19 65 0 0 1 0 0 EPC2 26122 broad.mit.edu 37 2 149511679 149511679 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:149511679A>G ENST00000258484.6 + 4 677 c.643A>G c.(643-645)Aca>Gca p.T215A NM_015630.3 NP_056445.3 Q52LR7 EPC2_HUMAN enhancer of polycomb homolog 2 (Drosophila) 215 chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.0516) TCGGAGAAGAACAGAGAAAAT 0.368000 5 13 0 0 1 0 0 FAM217B 63939 broad.mit.edu 37 20 58519670 58519670 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:58519670T>C ENST00000358293.3 + 5 1087 c.672T>C c.(670-672)agT>agC p.S224S FAM217B_ENST00000469084.1_3'UTR|FAM217B_ENST00000360816.3_Silent_p.S224S NM_001190826.1 NP_001177755.1 Q9NTX9 CT177_HUMAN family with sequence similarity 217, member B 224 CTGGGAGAAGTAAGCTAATTG 0.537000 24 71 0 0 1 0 0 GPNMB 10457 broad.mit.edu 37 7 23299746 23299746 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:23299746A>G ENST00000258733.4 + 5 984 c.689A>G c.(688-690)tAc>tGc p.Y230C GPNMB_ENST00000453162.2_Missense_Mutation_p.Y172C|GPNMB_ENST00000381990.2_Missense_Mutation_p.Y230C|GPNMB_ENST00000539136.1_Missense_Mutation_p.Y131C Q14956 GPNMB_HUMAN glycoprotein (transmembrane) nmb 230 negative regulation of cell proliferation melanosome p.Y230F(1) breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2) 41 GBM - Glioblastoma multiforme(13;0.154) AAAGATGTGTACGTGGTAACA 0.478000 27 88 0 0 1 0 0 PLD1 5337 broad.mit.edu 37 3 171406539 171406539 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:171406539T>C ENST00000356327.5 - 14 1536 c.1466A>G c.(1465-1467)gAc>gGc p.D489G PLD1_ENST00000351298.4_Missense_Mutation_p.D489G|PLD1_ENST00000342215.6_Missense_Mutation_p.D489G|PLD1_ENST00000340989.4_Missense_Mutation_p.D489G NM_001130081.2 NP_001123553.1 Q13393 PLD1_HUMAN phospholipase D1, phosphatidylcholine-specific 489 Catalytic. cell communication|chemotaxis|Ras protein signal transduction endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 63 all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) Choline(DB00122) GTGCTCATTGTCGTCCCACCT 0.512000 32 92 0 0 1 0 0 ZNF616 90317 broad.mit.edu 37 19 52618702 52618702 + Missense_Mutation SNP C C T rs150574210 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:52618702C>T ENST00000600228.1 - 4 1976 c.1715G>A c.(1714-1716)aGt>aAt p.S572N ZNF616_ENST00000330123.5_3'UTR NM_178523.3 NP_848618.2 Q08AN1 ZN616_HUMAN zinc finger protein 616 572 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189) TTTCTCTCCACTATGAATTCT 0.428000 18 40 0 0 1 0 0 SMPD1 6609 broad.mit.edu 37 11 6414558 6414558 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:6414558G>A ENST00000342245.4 + 3 1372 c.1204G>A c.(1204-1206)Gca>Aca p.A402T SMPD1_ENST00000527275.1_Missense_Mutation_p.A401T|SMPD1_ENST00000356761.2_Intron|SMPD1_ENST00000299397.3_Intron NM_000543.4|NM_001007593.2 NP_000534.3|NP_001007594.2 P17405 ASM_HUMAN sphingomyelin phosphodiesterase 1, acid lysosomal 400 cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction lysosome hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3) 23 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) Desipramine(DB01151) CACGGATCCCGCAGGACAGCT 0.562000 12 35 0 0 1 0 0 ASPN 54829 broad.mit.edu 37 9 95237107 95237107 + Missense_Mutation SNP C C T rs146516859 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:95237107C>T ENST00000375544.3 - 2 316 c.73G>A c.(73-75)Gca>Aca p.A25T ASPN_ENST00000395538.3_Missense_Mutation_p.A25T|ASPN_ENST00000375543.1_Missense_Mutation_p.A25T|CENPP_ENST00000375587.3_Intron|ASPN_ENST00000450139.2_5'UTR NM_017680.4 NP_060150.4 Q9BXN1 ASPN_HUMAN asporin 25 bone mineralization|negative regulation of tooth mineralization|negative regulation of transforming growth factor beta receptor signaling pathway proteinaceous extracellular matrix calcium ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1) 9 TTCTTCAGTGCGATGTGTGAA 0.423000 10 36 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9011372 9011372 + Missense_Mutation SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:9011372A>T ENST00000397910.4 - 36 39064 c.38861T>A c.(38860-38862)aTc>aAc p.I12954N NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 12956 SEA 6. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CAGCTCTTTGATGCCATGGGT 0.552000 108 275 0 0 1 0 0 HARS 3035 broad.mit.edu 37 5 140054660 140054660 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:140054660T>C ENST00000504366.1 - 10 2865 c.1046A>G c.(1045-1047)aAg>aGg p.K349R HARS_ENST00000448240.1_Missense_Mutation_p.K223R|HARS_ENST00000415192.2_Missense_Mutation_p.K344R|HARS_ENST00000307633.3_Missense_Mutation_p.K358R|HARS_ENST00000457527.2_Missense_Mutation_p.K398R|HARS_ENST00000431330.2_Missense_Mutation_p.K304R|HARS_ENST00000504156.1_Missense_Mutation_p.K418R|HARS_ENST00000438307.2_Missense_Mutation_p.K378R P12081 SYHC_HUMAN histidyl-tRNA synthetase 418 histidyl-tRNA aminoacylation cytosol ATP binding|histidine-tRNA ligase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 19 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) L-Histidine(DB00117) TAGCAGCTTCTTCTGTGCAGA 0.537000 31 89 0 0 1 0 0 GAB1 2549 broad.mit.edu 37 4 144354770 144354770 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:144354770T>C ENST00000262995.4 + 3 921 c.494T>C c.(493-495)aTc>aCc p.I165T GAB1_ENST00000505913.1_Missense_Mutation_p.I62T|GAB1_ENST00000262994.4_Missense_Mutation_p.I165T NM_207123.2 NP_997006.1 Q13480 GAB1_HUMAN GRB2-associated binding protein 1 165 cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway cytosol SH3/SH2 adaptor activity breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 30 all_hematologic(180;0.158) TATCAGCTAATCAATGTTCCA 0.478000 5 117 0 0 1 0 0 KIF21A 55605 broad.mit.edu 37 12 39760881 39760881 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:39760881A>G ENST00000395670.3 - 5 1105 c.686T>C c.(685-687)aTt>aCt p.I229T KIF21A_ENST00000361418.5_Missense_Mutation_p.I229T|KIF21A_ENST00000541463.2_Missense_Mutation_p.I229T|KIF21A_ENST00000544797.2_Missense_Mutation_p.I229T|KIF21A_ENST00000361961.3_Missense_Mutation_p.I229T Q7Z4S6 KI21A_HUMAN kinesin family member 21A 229 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 86 Lung NSC(34;0.179)|all_lung(34;0.213) AATGGTAAAAATGGCATGTGA 0.393000 19 102 0 0 1 0 0 PITPNM3 83394 broad.mit.edu 37 17 6361008 6361008 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:6361008G>A ENST00000262483.8 - 19 2612 c.2525C>T c.(2524-2526)aCg>aTg p.T842M ACKR6_ENST00000421306.3_Missense_Mutation_p.T806M|ACKR6_ENST00000576664.1_5'UTR NM_031220.3 NP_112497.2 GATGTCCTTCGTGGAGCCATA 0.602000 3 16 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1272562 1272562 + Missense_Mutation SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:1272562A>T ENST00000447027.1 + 31 14519 c.14461A>T c.(14461-14463)Atc>Ttc p.I4821F MUC5B_ENST00000529681.1_Missense_Mutation_p.I4818F Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 4818 23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) GACGACCCGGATCCTCACTGA 0.627000 45 148 0 0 1 0 0 TRPV3 162514 broad.mit.edu 37 17 3438901 3438901 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:3438901G>A ENST00000301365.4 - 7 881 c.750C>T c.(748-750)ttC>ttT p.F250F TRPV3_ENST00000572519.1_Silent_p.F250F|TRPV3_ENST00000576742.1_Silent_p.F250F Q8NET8 TRPV3_HUMAN transient receptor potential cation channel, subfamily V, member 3 250 integral to membrane calcium channel activity breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 35 Menthol(DB00825) ACTTGGGGTTGAAGAAGGCCC 0.692000 11 31 0 0 1 0 0 COL6A6 131873 broad.mit.edu 37 3 130381066 130381066 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:130381066A>G ENST00000358511.6 + 34 6447 c.6416A>G c.(6415-6417)cAc>cGc p.H2139R COL6A6_ENST00000453409.2_Missense_Mutation_p.H2139R NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 2139 Nonhelical region.|VWFA 9. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 CCTTTGGATCACCACCTGGTC 0.458000 44 159 0 0 1 0 0 POU2F1 5451 broad.mit.edu 37 1 167345366 167345366 + Missense_Mutation SNP T T A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:167345366T>A ENST00000367862.5 + 7 894 c.659T>A c.(658-660)aTc>aAc p.I220N POU2F1_ENST00000429375.2_Missense_Mutation_p.I168N|POU2F1_ENST00000367866.2_Missense_Mutation_p.I231N|POU2F1_ENST00000420254.3_Missense_Mutation_p.I208N|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000452019.1_Missense_Mutation_p.I208N|POU2F1_ENST00000541643.3_Missense_Mutation_p.I208N NM_001198783.1 NP_001185712.1 P14859 PO2F1_HUMAN POU class 2 homeobox 1 208 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 30 CAGTTTATCATCTCACAGACG 0.483000 15 68 0 0 1 0 0 PPFIBP1 8496 broad.mit.edu 37 12 27845553 27845553 + Missense_Mutation SNP G G C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:27845553G>C ENST00000318304.8 + 28 3196 c.2913G>C c.(2911-2913)caG>caC p.Q971H PPFIBP1_ENST00000542629.1_Missense_Mutation_p.Q940H|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.Q965H|PPFIBP1_ENST00000537927.1_Missense_Mutation_p.Q818H NM_001198916.1|NM_177444.2 NP_001185845.1|NP_803193.2 Q86W92 LIPB1_HUMAN PTPRF interacting protein, binding protein 1 (liprin beta 1) 971 cell adhesion plasma membrane protein binding PPFIBP1/ALK(3) central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1) 32 Lung SC(9;0.0873) CAGTGAGACAGATAGGTGCAT 0.373000 22 175 0 0 1 0 0 OR5M8 219484 broad.mit.edu 37 11 56258765 56258765 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:56258765T>C ENST00000327216.2 - 1 106 c.82A>G c.(82-84)Acg>Gcg p.T28A NM_001005282.1 NP_001005282.1 Q8NGP6 OR5M8_HUMAN olfactory receptor, family 5, subfamily M, member 8 28 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 Esophageal squamous(21;0.00352) AGAAACAGCGTGAAGAGGAGA 0.502000 56 134 0 0 1 0 0 BMS1P20 96610 broad.mit.edu 37 22 22664186 22664186 + RNA SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr22:22664186A>G ENST00000426066.1 + 0 709 NR_027293.1 CAGATCAAGAAAGCACTCTGA 0.498000 8 135 0 0 1 0 0 ZNF45 7596 broad.mit.edu 37 19 44419190 44419190 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:44419190T>C ENST00000269973.5 - 10 1488 c.398A>G c.(397-399)gAa>gGa p.E133G RP11-15A1.2_ENST00000586247.1_RNA|ZNF45_ENST00000589703.1_Missense_Mutation_p.E133G NM_003425.3 NP_003416.1 Q02386 ZNF45_HUMAN zinc finger protein 45 133 multicellular organismal development nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 17 ATCTCGTTTTTCCAACTGGCA 0.403000 15 58 0 0 1 0 0 HOXA6 3203 broad.mit.edu 37 7 27185535 27185535 + Splice_Site SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:27185535A>G ENST00000222728.3 - 2 468 c.442_splice c.e2-1 p.G148_splice HOXA-AS3_ENST00000521197.1_RNA|HOXA3_ENST00000467897.2_Intron|HOXA6_ENST00000521478.1_5'UTR|HOXA-AS3_ENST00000518848.1_RNA NM_024014.3 NP_076919.1 P31267 HXA6_HUMAN homeobox A6 148 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(5)|lung(3)|ovary(1) 10 CATACACAGCACCTACGAGCA 0.632000 34 107 0 0 1 0 0 C11orf24 53838 broad.mit.edu 37 11 68029987 68029987 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:68029987C>T ENST00000304271.6 - 4 878 c.476G>A c.(475-477)aGc>aAc p.S159N C11orf24_ENST00000533310.1_Intron|C11orf24_ENST00000530166.1_5'UTR NM_022338.3 NP_071733.1 Q96F05 CK024_HUMAN chromosome 11 open reading frame 24 159 integral to membrane endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1) 13 CATGGGAGTGCTGGAGGCCGC 0.637000 16 34 0 0 1 0 0 CUL7 9820 broad.mit.edu 37 6 43017324 43017324 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:43017324T>C ENST00000535468.1 - 7 1984 c.1898A>G c.(1897-1899)cAg>cGg p.Q633R CUL7_ENST00000265348.3_Missense_Mutation_p.Q549R NM_001168370.1|NM_014780.4 NP_001161842.1|NP_055595.2 Q14999 CUL7_HUMAN cullin 7 549 interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis anaphase-promoting complex|mitochondrion ubiquitin protein ligase binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 49 all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) ATTGAGTCGCTGTGGCAGAGT 0.542000 23 78 0 0 1 0 0 HIAT1 64645 broad.mit.edu 37 1 100534140 100534140 + Missense_Mutation SNP C C G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:100534140C>G ENST00000370152.3 + 7 953 c.817C>G c.(817-819)Cag>Gag p.Q273E RP4-714D9.2_ENST00000432294.1_RNA NM_033055.2 NP_149044.2 Q96MC6 HIAT1_HUMAN hippocampus abundant transcript 1 273 transmembrane transport integral to membrane|plasma membrane transporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1) 16 all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131) Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195) ATACCTCAGACAGGTAAAATC 0.393000 22 94 0 0 1 0 0 NHS 4810 broad.mit.edu 37 X 17744917 17744917 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chrX:17744917G>A ENST00000380060.3 + 6 2966 c.2628G>A c.(2626-2628)acG>acA p.T876T NHS_ENST00000398097.3_Silent_p.T720T NM_198270.2 NP_938011.1 Q6T4R5 NHS_HUMAN Nance-Horan syndrome (congenital cataracts and dental anomalies) 876 nucleus breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 71 Hepatocellular(33;0.183) TCGCCAACACGCCTTCTCGAA 0.473000 39 54 0 0 1 0 0 C14orf166B 145497 broad.mit.edu 37 14 77294742 77294742 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:77294742A>G ENST00000393774.3 + 2 321 c.197A>G c.(196-198)gAa>gGa p.E66G C14orf166B_ENST00000216453.5_Missense_Mutation_p.E23G|C14orf166B_ENST00000460005.1_3'UTR|C14orf166B_ENST00000450042.2_Missense_Mutation_p.E49G NM_194287.2 NP_919263.2 Q0VAA2 CN16B_HUMAN chromosome 14 open reading frame 166B 66 breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1) 18 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0306) GAGAATTCGGAAACAGACCTG 0.522000 36 104 0 0 1 0 0 RANBP2 5903 broad.mit.edu 37 2 109357008 109357008 + Missense_Mutation SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:109357008C>A ENST00000283195.6 + 7 972 c.846C>A c.(844-846)ttC>ttA p.F282L NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 282 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 CAGCTACTTTCTTAGAAATGA 0.378000 86 299 7.49063e-41 7.94504e-41 1 1 0 JARID2 3720 broad.mit.edu 37 6 15497123 15497123 + Missense_Mutation SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:15497123A>T ENST00000341776.2 + 7 1911 c.1667A>T c.(1666-1668)gAg>gTg p.E556V JARID2_ENST00000541660.1_Missense_Mutation_p.E518V|JARID2_ENST00000397311.3_Missense_Mutation_p.E384V NM_004973.3 NP_004964.2 Q92833 JARD2_HUMAN jumonji, AT rich interactive domain 2 556 central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent chromatin binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1) 59 Breast(50;0.0142)|Ovarian(93;0.103) all_hematologic(90;0.00612) GCCATGGACGAGATCCCCGTC 0.652000 10 25 0 0 1 0 0 UNC13B 10497 broad.mit.edu 37 9 35376184 35376184 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:35376184G>A ENST00000378495.3 + 14 1750 c.1528G>A c.(1528-1530)Gaa>Aaa p.E510K UNC13B_ENST00000378496.4_Missense_Mutation_p.E510K|UNC13B_ENST00000396787.1_Missense_Mutation_p.E522K NM_006377.3 NP_006368.3 O14795 UN13B_HUMAN unc-13 homolog B (C. elegans) 510 excretion|induction of apoptosis|intracellular signal transduction cell junction|Golgi apparatus|synapse metal ion binding|receptor activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(49;0.212) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194) GCGCTGCAGCGAATGTGGAGT 0.612000 37 132 0 0 1 0 0 HECW2 57520 broad.mit.edu 37 2 197184031 197184031 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:197184031T>C ENST00000260983.2 - 9 1765 c.1583A>G c.(1582-1584)gAt>gGt p.D528G HECW2_ENST00000409111.1_Missense_Mutation_p.D172G NM_020760.1 NP_065811.1 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 528 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 113 TTCTGGCTTATCCTCAAAGGA 0.552000 7 60 0 0 1 0 0 TMEM130 222865 broad.mit.edu 37 7 98457952 98457952 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:98457952A>G ENST00000450876.1 - 3 1464 c.149T>C c.(148-150)gTg>gCg p.V50A TMEM130_ENST00000339375.4_Missense_Mutation_p.V134A|TMEM130_ENST00000546258.1_Missense_Mutation_p.V115A|TMEM130_ENST00000416379.2_Missense_Mutation_p.V134A|TMEM130_ENST00000345589.4_Missense_Mutation_p.V32A Q8N3G9 TM130_HUMAN transmembrane protein 130 134 Golgi membrane|integral to membrane breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 25 all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) AAGGTCCCCCACGAGGAACTC 0.567000 14 37 0 0 1 0 0 CR1L 1379 broad.mit.edu 37 1 207868064 207868064 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:207868064A>G ENST00000508064.2 + 5 890 c.830A>G c.(829-831)aAa>aGa p.K277R CR1L_ENST00000530905.1_Intron NM_175710.1 NP_783641.1 Q2VPA4 CR1L_HUMAN complement component (3b/4b) receptor 1-like 277 Sushi 4. cytoplasm|extracellular region|membrane endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 GCCCTGAACAAATGGGAGCCA 0.512000 4 199 0 0 1 0 0 ILDR1 286676 broad.mit.edu 37 3 121712409 121712409 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:121712409T>C ENST00000273691.3 - 6 1160 c.1055A>G c.(1054-1056)gAc>gGc p.D352G ILDR1_ENST00000393631.1_Missense_Mutation_p.D307G|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000344209.5_Missense_Mutation_p.D396G|ILDR1_ENST00000462014.1_Missense_Mutation_p.D364G NM_175924.3 NP_787120.1 Q86SU0 ILDR1_HUMAN immunoglobulin-like domain containing receptor 1 396 cytosol|integral to membrane|plasma membrane receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GBM - Glioblastoma multiforme(114;0.156) CCACGATGGGTCCAACTCCCT 0.577000 26 73 0 0 1 0 0 AGPAT2 10555 broad.mit.edu 37 9 139571444 139571444 + Missense_Mutation SNP G G A rs150530734 byFrequency TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:139571444G>A ENST00000371696.2 - 3 526 c.461C>T c.(460-462)gCc>gTc p.A154V AGPAT2_ENST00000371694.3_Missense_Mutation_p.A154V|AGPAT2_ENST00000538402.1_Missense_Mutation_p.A154V NM_006412.3 NP_006403.2 O15120 PLCB_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 2 154 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 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) GCCCAGGTCGGCCATCACTGT 0.687000 4 157 0 0 1 0 0 EPB41L3 23136 broad.mit.edu 37 18 5423449 5423449 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr18:5423449T>C ENST00000341928.2 - 11 1607 c.1267A>G c.(1267-1269)Ata>Gta p.I423V EPB41L3_ENST00000544123.1_Missense_Mutation_p.I423V|EPB41L3_ENST00000540638.2_Missense_Mutation_p.I423V|EPB41L3_ENST00000400111.3_Missense_Mutation_p.I423V|EPB41L3_ENST00000342933.3_Missense_Mutation_p.I423V|EPB41L3_ENST00000542652.2_5'UTR NM_012307.2 NP_036439.2 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 423 Hydrophilic. cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 GGGCGATCTATCAACGCACTG 0.488000 21 54 0 0 1 0 0 DSEL 92126 broad.mit.edu 37 18 65180745 65180745 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr18:65180745G>A ENST00000310045.7 - 2 2604 c.1131C>T c.(1129-1131)caC>caT p.H377H CTD-2541J13.2_ENST00000583493.1_RNA NM_032160.2 NP_115536.1 Q8IZU8 DSEL_HUMAN dermatan sulfate epimerase-like 367 integral to membrane isomerase activity|sulfotransferase activity NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129) CTTTAGGTCGGTGCTTTCTAA 0.438000 28 80 0 0 1 0 0 ERCC2 2068 broad.mit.edu 37 19 45855501 45855501 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:45855501T>C ENST00000391945.4 - 22 2233 c.2156A>G c.(2155-2157)tAc>tGc p.Y719C ERCC2_ENST00000391944.3_Missense_Mutation_p.Y641C NM_000400.3 NP_000391.1 P18074 ERCC2_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 2 719 Missing (in XP-D and TTDP). cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction cytoplasm|holo TFIIH complex|MMXD complex 5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1) 9 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0226) CCGCAGGAAGTACTTGGCCAC 0.662000 """Mis, N, F, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 27 61 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41452138 41452138 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr21:41452138T>C ENST00000400454.1 - 25 4838 c.4361A>G c.(4360-4362)cAa>cGa p.Q1454R NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 1454 Fibronectin type-III 5. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) CACTCCATTTTGGGCTGTCAG 0.458000 14 125 0 0 1 0 0 YY1 7528 broad.mit.edu 37 14 100743827 100743827 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:100743827G>A ENST00000262238.4 + 5 1395 c.1135G>A c.(1135-1137)Gga>Aga p.G379R NM_003403.3 NP_003394.1 P25490 TYY1_HUMAN YY1 transcription factor 379 Involved in masking transactivation domain. cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis Ino80 complex|nuclear matrix|plasma membrane four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1) 11 Melanoma(154;0.152) AATCCATACCGGAGACAGGCC 0.468000 32 76 0 0 1 0 0 FAM214B 80256 broad.mit.edu 37 9 35106373 35106373 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:35106373C>T ENST00000378561.1 - 5 4149 c.1094G>A c.(1093-1095)gGc>gAc p.G365D FAM214B_ENST00000488109.2_Missense_Mutation_p.G365D|FAM214B_ENST00000378566.1_Missense_Mutation_p.G60D|FAM214B_ENST00000603301.1_Missense_Mutation_p.G365D|FAM214B_ENST00000378557.1_Missense_Mutation_p.G365D|FAM214B_ENST00000322813.5_Missense_Mutation_p.G365D|FAM214B_ENST00000605244.1_Missense_Mutation_p.G365D|FAM214B_ENST00000378554.2_Missense_Mutation_p.G365D Q7L5A3 K1539_HUMAN family with sequence similarity 214, member B 365 nucleus CTCAATGTGGCCAGATGGTGC 0.493000 15 66 0 0 1 0 0 IMPACT 55364 broad.mit.edu 37 18 22025367 22025367 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr18:22025367T>C ENST00000284202.4 + 8 746 c.605T>C c.(604-606)gTt>gCt p.V202A NM_018439.3 NP_060909.1 Q9P2X3 IMPCT_HUMAN impact RWD domain protein 202 endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2) 16 all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991) GTGAAAATGGTTCTTTCCAAA 0.313000 17 45 0 0 1 0 0 F13B 2165 broad.mit.edu 37 1 197030932 197030932 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:197030932T>C ENST00000367412.1 - 3 476 c.433A>G c.(433-435)Acc>Gcc p.T145A NM_001994.2 NP_001985.2 P05160 F13B_HUMAN coagulation factor XIII, B polypeptide 145 Sushi 2. blood coagulation extracellular region p.T145A(2) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 66 TTCCTACAGGTTGGTTGAGAA 0.373000 10 46 0 0 1 0 0 ZNF76 7629 broad.mit.edu 37 6 35260407 35260407 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:35260407C>T ENST00000373953.3 + 10 1274 c.1008C>T c.(1006-1008)caC>caT p.H336H ZNF76_ENST00000440666.2_Silent_p.H310H|ZNF76_ENST00000339411.5_Silent_p.H336H NM_003427.3 NP_003418.2 P36508 ZNF76_HUMAN zinc finger protein 76 336 regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1) 16 ATAAGCACCACGTGGTGCACA 0.627000 25 86 0 0 1 0 0 OR4M1 441670 broad.mit.edu 37 14 20248750 20248750 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:20248750A>G ENST00000315957.4 + 1 350 c.269A>G c.(268-270)aAg>aGg p.K90R NM_001005500.1 NP_001005500.1 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, member 1 90 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2) 42 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GTGGAGAGGAAGATAATTTCC 0.443000 9 648 0 0 1 0 0 HP1BP3 50809 broad.mit.edu 37 1 21074117 21074117 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:21074117G>A ENST00000375003.2 - 7 2217 c.717C>T c.(715-717)tgC>tgT p.C239C HP1BP3_ENST00000312239.5_Silent_p.C391C Q5SSJ5 HP1B3_HUMAN heterochromatin protein 1, binding protein 3 391 nucleosome assembly nucleosome|nucleus DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1) 16 all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201) CATTCTTTTCGCATTTCTGCA 0.383000 10 42 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141607801 141607801 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:141607801A>G ENST00000389484.3 - 29 5780 c.4809T>C c.(4807-4809)ccT>ccC p.P1603P NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 1603 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CATCAATATCAGGGACTGTAA 0.348000 TSP Lung(27;0.18) 19 49 0 0 1 0 0 STAG3L4 64940 broad.mit.edu 37 7 66767852 66767852 + RNA SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:66767852C>T ENST00000416602.2 + 0 245 NR_040586.1 Q8TBR4 STG34_HUMAN endometrium(2)|lung(5) 7 Lung NSC(55;0.0839)|all_lung(88;0.181) CGGCCCAGCGCCCGGCGTTGG 0.726000 6 9 0 0 1 0 0 FAM160B1 57700 broad.mit.edu 37 10 116603660 116603660 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:116603660C>T ENST00000369248.4 + 7 1312 c.977C>T c.(976-978)cCg>cTg p.P326L FAM160B1_ENST00000369250.3_Missense_Mutation_p.P326L NM_020940.3 NP_065991.3 Q5W0V3 F16B1_HUMAN family with sequence similarity 160, member B1 326 NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13) 25 TCAGTGGATCCGTTAGATATT 0.458000 26 103 0 0 1 0 0 OR2T6 254879 broad.mit.edu 37 1 248551319 248551319 + Missense_Mutation SNP G G A rs2226010 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:248551319G>A ENST00000355728.2 + 1 410 c.410G>A c.(409-411)aGc>aAc p.S137N NM_001005471.1 NP_001005471.1 Q8NHC8 OR2T6_HUMAN olfactory receptor, family 2, subfamily T, member 6 137 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GTCCTCATCAGCTGGCGGGTC 0.577000 19 64 0 0 1 0 0 SPRED2 200734 broad.mit.edu 37 2 65561814 65561814 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:65561814G>A ENST00000356388.4 - 3 487 c.298C>T c.(298-300)Ctt>Ttt p.L100F SPRED2_ENST00000474228.1_5'UTR|SPRED2_ENST00000443619.2_Missense_Mutation_p.L97F NM_181784.2 NP_861449.2 Q7Z698 SPRE2_HUMAN sprouty-related, EVH1 domain containing 2 100 WH1. inactivation of MAPK activity|multicellular organismal development transport vesicle membrane stem cell factor receptor binding p.L100F(1) breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3) 34 TGGAAAGTAAGTCCAAACTTC 0.448000 47 147 0 0 1 0 0 PLA2G4F 255189 broad.mit.edu 37 15 42436233 42436233 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:42436233A>G ENST00000397272.3 - 18 2182 c.2091T>C c.(2089-2091)ccT>ccC p.P697P PLA2G4F_ENST00000382396.4_Silent_p.P695P NM_213600.3 NP_998765.3 Q68DD2 PA24F_HUMAN phospholipase A2, group IVF 695 PLA2c. phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(94;8.97e-07) CTGCTCTCTGAGGCAGCAGAG 0.602000 25 104 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179429620 179429620 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:179429620A>G ENST00000589042.1 - 326 81463 c.81239T>C c.(81238-81240)tTt>tCt p.F27080S TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.F18015S|TTN_ENST00000342992.6_Missense_Mutation_p.F24512S|TTN_ENST00000591111.1_Missense_Mutation_p.F25439S|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.F18140S|TTN_ENST00000342175.6_Missense_Mutation_p.F18207S|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 25439 Fibronectin type-III 97. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity 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) TGATGTCACAAAAGGAGTTCC 0.403000 16 56 0 0 1 0 0 PCDHGA6 56109 broad.mit.edu 37 5 140754749 140754749 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:140754749G>A ENST00000517434.1 + 1 1099 c.1099G>A c.(1099-1101)Gcc>Acc p.A367T PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron NM_018919.2|NM_032086.1 NP_061742.1|NP_114475.1 breast(1)|large_intestine(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AACAGTAATCGCCCTTTTTCA 0.433000 35 114 0 0 1 0 0 PAN2 9924 broad.mit.edu 37 12 56716461 56716461 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:56716461G>A ENST00000425394.2 - 18 2963 c.2587C>T c.(2587-2589)Cgc>Tgc p.R863C PAN2_ENST00000257931.5_Missense_Mutation_p.R862C|PAN2_ENST00000548043.1_Missense_Mutation_p.R863C|PAN2_ENST00000440411.3_Missense_Mutation_p.R859C NM_001127460.2 NP_001120932.1 Q504Q3 PAN2_HUMAN PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) 863 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process cytosol|nucleus nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 CCCCCTGTGCGTGAGTCCAGG 0.592000 50 86 0 0 1 0 0 SLC16A7 9194 broad.mit.edu 37 12 60173352 60173352 + Missense_Mutation SNP G G C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:60173352G>C ENST00000261187.4 + 5 1493 c.1329G>C c.(1327-1329)caG>caC p.Q443H SLC16A7_ENST00000552432.1_Missense_Mutation_p.Q443H|SLC16A7_ENST00000547379.1_Missense_Mutation_p.Q443H|SLC16A7_ENST00000543448.1_Missense_Mutation_p.Q344H|SLC16A7_ENST00000552024.1_Missense_Mutation_p.Q443H NM_001270622.1|NM_001270623.1|NM_004731.3 NP_001257551.1|NP_001257552.1|NP_004722.2 O60669 MOT2_HUMAN solute carrier family 16 (monocarboxylate transporter), member 7 443 integral to plasma membrane|membrane fraction pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1) 30 GBM - Glioblastoma multiforme(3;0.0303) Pyruvic acid(DB00119) ATGCAAGGCAGAAGACCAGAG 0.433000 15 26 0 0 1 0 0 KIF11 3832 broad.mit.edu 37 10 94353185 94353185 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:94353185A>G ENST00000260731.3 + 1 143 c.53A>G c.(52-54)aAc>aGc p.N18S NM_004523.3 NP_004514.2 P52732 KIF11_HUMAN kinesin family member 11 18 Kinesin-motor. blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole ATP binding|microtubule motor activity|protein kinase binding breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 AAGGGGAAGAACATCCAGGTG 0.637000 7 31 0 0 1 0 0 HDAC3 8841 broad.mit.edu 37 5 141009296 141009296 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:141009296A>G ENST00000305264.3 - 6 510 c.431T>C c.(430-432)tTc>tCc p.F144S NM_003883.3 NP_003874.2 O15379 HDAC3_HUMAN histone deacetylase 3 144 Histone deacetylase. anti-apoptosis|cellular lipid metabolic process|negative regulation of cell cycle|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|spindle assembly|transcription, DNA-dependent cytoplasm|histone deacetylase complex|spindle microtubule|transcriptional repressor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription corepressor activity|transcription factor binding endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 13 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Vorinostat(DB02546) GACATAGCAGAAGCCAGAGGC 0.542000 8 154 0 0 1 0 0 OR52J3 119679 broad.mit.edu 37 11 5067889 5067889 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:5067889C>T ENST00000380370.1 + 1 134 c.134C>T c.(133-135)gCc>gTc p.A45V NM_001001916.2 NP_001001916.2 Q8NH60 O52J3_HUMAN olfactory receptor, family 52, subfamily J, member 3 45 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2) 36 Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204) Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19) CTGGGCAATGCCACCATTCTG 0.493000 19 65 0 0 1 0 0 DDX59 83479 broad.mit.edu 37 1 200635318 200635318 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:200635318T>C ENST00000447706.2 - 2 702 c.551A>G c.(550-552)aAt>aGt p.N184S DDX59_ENST00000331314.6_Missense_Mutation_p.N184S|DDX59_ENST00000367348.3_Missense_Mutation_p.N184S Q5T1V6 DDX59_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 59 184 intracellular ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3) 21 CTGTTTAAGATTTTCAATCTG 0.433000 7 159 0 0 1 0 0 CAMTA1 23261 broad.mit.edu 37 1 7700509 7700509 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:7700509A>G ENST00000303635.7 + 7 767 c.560A>G c.(559-561)gAc>gGc p.D187G CAMTA1_ENST00000439411.2_Missense_Mutation_p.D187G NM_015215.2 NP_056030.1 Q9Y6Y1 CMTA1_HUMAN calmodulin binding transcription activator 1 187 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 85 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) GCCATCGAGGACTGCGGCAAG 0.612000 T WWTR1 epitheliod hemangioendothelioma 4 142 0 0 1 0 0 INPP5D 3635 broad.mit.edu 37 2 233944059 233944059 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:233944059T>C ENST00000359570.5 + 2 149 c.149T>C c.(148-150)gTt>gCt p.V50A INPP5D_ENST00000538935.1_Missense_Mutation_p.V50A Q92835 SHIP1_HUMAN inositol polyphosphate-5-phosphatase, 145kDa 50 SH2. apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway cytosol inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding central_nervous_system(1)|ovary(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) CGGAATTGCGTTTACACTTAC 0.408000 9 63 0 0 1 0 0 RP11-159L20.2 0 broad.mit.edu 37 14 31290756 31290756 + RNA SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:31290756G>A ENST00000554665.1 - 0 208 CGCCCCTACAGCCATGCCCTG 0.498000 27 54 0 0 1 0 0 OSBPL5 114879 broad.mit.edu 37 11 3141689 3141689 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:3141689G>A ENST00000263650.7 - 6 727 c.568C>T c.(568-570)Ctc>Ttc p.L190F OSBPL5_ENST00000348039.5_Intron|OSBPL5_ENST00000542243.1_Intron|OSBPL5_ENST00000525498.1_Intron|OSBPL5_ENST00000389989.3_Intron NM_020896.3 NP_065947.1 Q9H0X9 OSBL5_HUMAN oxysterol binding protein-like 5 190 PH. cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport cytosol oxysterol binding|protein binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 25 all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207) GGGTGGAAGAGCTTGAAGCAG 0.647000 13 56 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92085904 92085904 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:92085904C>T ENST00000298047.6 + 1 643 c.626C>T c.(625-627)aCg>aTg p.T209M FAT3_ENST00000409404.2_Missense_Mutation_p.T209M|FAT3_ENST00000541502.1_Missense_Mutation_p.T209M|FAT3_ENST00000525166.1_Missense_Mutation_p.T59M Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 209 Cadherin 2. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GTTCACCCCACGAGTGGTGTC 0.408000 TCGA Ovarian(4;0.039) 25 57 0 0 1 0 0 DNMBP 23268 broad.mit.edu 37 10 101716889 101716889 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:101716889G>A ENST00000342239.3 - 4 433 c.342C>T c.(340-342)ggC>ggT p.G114G DNMBP-AS1_ENST00000434409.1_RNA|DNMBP_ENST00000324109.4_Silent_p.G114G Q6XZF7 DNMBP_HUMAN dynamin binding protein 114 SH3 2. intracellular signal transduction|regulation of Rho protein signal transduction cell junction|cytoskeleton|Golgi stack|synapse protein binding|Rho guanyl-nucleotide exchange factor activity central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 61 Colorectal(252;0.234) Epithelial(162;2.94e-10)|all cancers(201;3.15e-08) ATGGGAAGAAGCCCCGTGCGC 0.592000 14 56 0 0 1 0 0 TPI1 7167 broad.mit.edu 37 12 6979496 6979496 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:6979496T>C ENST00000229270.4 + 7 1147 c.810T>C c.(808-810)ggT>ggC p.G270G TPI1_ENST00000488464.2_Silent_p.G151G|TPI1_ENST00000535434.1_Silent_p.G151G|TPI1_ENST00000396705.5_Silent_p.G233G NM_001159287.1 NP_001152759.1 P60174 TPIS_HUMAN triosephosphate isomerase 1 233 fatty acid biosynthetic process|gluconeogenesis|glycolysis|pentose-phosphate shunt cytosol triose-phosphate isomerase activity endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|skin(2) 19 TCCTTGTGGGTGGTGCTTCCC 0.577000 OREG0021638 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 32 76 0 0 1 0 0 MGAT1 4245 broad.mit.edu 37 5 180219557 180219557 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:180219557C>T ENST00000446023.2 - 3 1165 c.415G>A c.(415-417)Gtt>Att p.V139I MGAT1_ENST00000393340.3_Missense_Mutation_p.V139I|MGAT1_ENST00000333055.3_Missense_Mutation_p.V139I|MGAT1_ENST00000427865.2_Missense_Mutation_p.V139I|MGAT1_ENST00000307826.4_Missense_Mutation_p.V139I NM_001114617.1|NM_001114618.1 NP_001108089.1|NP_001108090.1 P26572 MGAT1_HUMAN mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase 139 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1) 13 all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TCCTGGCTAACGATGATGGGG 0.652000 16 75 0 0 1 0 0 ASXL2 55252 broad.mit.edu 37 2 25967275 25967275 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:25967275A>G ENST00000435504.4 - 13 2224 c.1931T>C c.(1930-1932)gTc>gCc p.V644A ASXL2_ENST00000272341.4_Missense_Mutation_p.V384A|ASXL2_ENST00000336112.4_Missense_Mutation_p.V616A|ASXL2_ENST00000404843.1_Missense_Mutation_p.V384A Q76L83 ASXL2_HUMAN additional sex combs like 2 (Drosophila) 644 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3) 33 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGTGATGGAGACTGGAAAACG 0.527000 23 61 0 0 1 0 0 PRKAB1 5564 broad.mit.edu 37 12 120112225 120112225 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:120112225A>G ENST00000229328.5 + 4 990 c.498A>G c.(496-498)ttA>ttG p.L166L PRKAB1_ENST00000541640.1_Silent_p.L166L|PRKAB1_ENST00000540121.1_5'UTR NM_006253.4 NP_006244.2 Q9Y478 AAKB1_HUMAN protein kinase, AMP-activated, beta 1 non-catalytic subunit 166 cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid oxidation cytosol endometrium(2)|large_intestine(3)|lung(5) 10 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.166) Adenosine monophosphate(DB00131)|Metformin(DB00331) TTGATGCTTTAATGGTGGATT 0.438000 18 105 0 0 1 0 0 TTYH1 57348 broad.mit.edu 37 19 54930385 54930385 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:54930385C>T ENST00000301194.4 + 2 332 c.210C>T c.(208-210)tgC>tgT p.C70C TTYH1_ENST00000391739.3_Silent_p.C119C|TTYH1_ENST00000376530.3_Silent_p.C70C|TTYH1_ENST00000376531.3_Silent_p.C70C Q9H313 TTYH1_HUMAN tweety family member 1 70 cell adhesion chloride channel complex|plasma membrane chloride channel activity|iron ion transmembrane transporter activity endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0767) TCCGCTTCTGCTGCTGCCGGC 0.682000 19 133 0 0 1 0 0 RPGR 6103 broad.mit.edu 37 X 38129023 38129023 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chrX:38129023C>T ENST00000339363.3 - 18 3086 c.2919G>A c.(2917-2919)ccG>ccA p.P973P RPGR_ENST00000309513.3_Silent_p.P706P|RPGR_ENST00000338898.3_3'UTR|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000318842.7_Silent_p.P768P Q92834 RPGR_HUMAN retinitis pigmentosa GTPase regulator 973 intracellular protein transport|response to stimulus|visual perception Golgi apparatus|photoreceptor outer segment guanyl-nucleotide exchange factor activity|protein binding p.P768P(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 25 TCTCTGGGAGCGGCTCATTGT 0.358000 21 20 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179426382 179426382 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:179426382A>G ENST00000589042.1 - 326 84701 c.84477T>C c.(84475-84477)ggT>ggC p.G28159G TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Silent_p.G19094G|TTN_ENST00000342992.6_Silent_p.G25591G|TTN_ENST00000591111.1_Silent_p.G26518G|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Silent_p.G19219G|TTN_ENST00000342175.6_Silent_p.G19286G|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 26518 Fibronectin type-III 105. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity 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) CTTTAGGAGTACCAGGAGGAC 0.463000 12 28 0 0 1 0 0 BMS1P20 96610 broad.mit.edu 37 22 22664056 22664056 + RNA SNP T T C rs3178309 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr22:22664056T>C ENST00000426066.1 + 0 623 NR_027293.1 ATAAAGTATATGATTTTGTGT 0.348000 15 45 0 0 1 0 0 RSPH4A 345895 broad.mit.edu 37 6 116948931 116948931 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:116948931G>A ENST00000229554.5 + 3 1198 c.1061G>A c.(1060-1062)cGc>cAc p.R354H RSPH4A_ENST00000368581.4_Missense_Mutation_p.R354H|RSPH4A_ENST00000368580.4_Intron NM_001010892.2 NP_001010892.1 Q5TD94 RSH4A_HUMAN radial spoke head 4 homolog A (Chlamydomonas) 354 cilium axoneme assembly|cilium movement cytoplasm|cytoskeleton|radial spoke breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 CAAAGATGCCGCTTCTGGGGA 0.448000 Kartagener syndrome 15 114 0 0 1 0 0 ALPPL2 251 broad.mit.edu 37 2 233274406 233274406 + Missense_Mutation SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:233274406A>T ENST00000295453.3 + 11 1475 c.1423A>T c.(1423-1425)Acc>Tcc p.T475S NM_031313.2 NP_112603.2 P10696 PPBN_HUMAN alkaline phosphatase, placental-like 2 475 phosphorylation anchored to membrane|plasma membrane alkaline phosphatase activity|metal ion binding breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1) 13 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) Amifostine(DB01143)|Levamisole(DB00848) GCAGGAGCAGACCTTCATAGC 0.741000 8 34 0 0 1 0 0 ABLIM1 3983 broad.mit.edu 37 10 116225582 116225582 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:116225582T>C ENST00000533213.2 - 12 1437 c.1136A>G c.(1135-1137)tAc>tGc p.Y379C ABLIM1_ENST00000369253.2_Missense_Mutation_p.Y97C|ABLIM1_ENST00000369266.3_Missense_Mutation_p.Y151C|ABLIM1_ENST00000369252.4_Missense_Mutation_p.Y379C|ABLIM1_ENST00000392952.3_Missense_Mutation_p.Y151C|ABLIM1_ENST00000277895.5_Missense_Mutation_p.Y439C O14639 ABLM1_HUMAN actin binding LIM protein 1 439 axon guidance|cytoskeleton organization|organ morphogenesis|visual perception actin cytoskeleton|cytoplasm actin binding|zinc ion binding breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 30 Colorectal(252;0.0373)|Breast(234;0.231) Epithelial(162;0.0132)|all cancers(201;0.0383) AACATCCTGGTACCCCTGGAA 0.537000 44 136 0 0 1 0 0 SH3PXD2A 9644 broad.mit.edu 37 10 105363403 105363403 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:105363403C>T ENST00000369774.4 - 15 1848 c.1572G>A c.(1570-1572)ccG>ccA p.P524P SH3PXD2A_ENST00000540321.1_Silent_p.P391P|SH3PXD2A_ENST00000538130.1_Silent_p.P359P|SH3PXD2A_ENST00000355946.2_Silent_p.P496P|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000315994.6_5'UTR Q5TCZ1 SPD2A_HUMAN SH3 and PX domains 2A 524 cell communication|superoxide metabolic process cell junction|cell projection|cytoplasm|podosome phosphatidylinositol binding|protein binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1) 38 Colorectal(252;0.0815)|Breast(234;0.131) Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119) GGGGTGCTGGCGGGGGCACCT 0.672000 6 51 0 0 1 0 0 UBR2 23304 broad.mit.edu 37 6 42604929 42604929 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:42604929G>A ENST00000372899.1 + 15 2113 c.1855G>A c.(1855-1857)Gca>Aca p.A619T UBR2_ENST00000372883.3_Missense_Mutation_p.A123T|UBR2_ENST00000372901.1_Missense_Mutation_p.A619T NM_015255.2 NP_056070.1 Q8IWV8 UBR2_HUMAN ubiquitin protein ligase E3 component n-recognin 2 619 cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade nucleus|plasma membrane leucine binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5) 64 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196) TCGCTTACTTGCAGGTAAAGC 0.353000 18 58 0 0 1 0 0 PCDHB14 56122 broad.mit.edu 37 5 140603627 140603627 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:140603627G>A ENST00000239449.4 + 1 550 c.550G>A c.(550-552)Gac>Aac p.D184N PCDHB14_ENST00000515856.2_Missense_Mutation_p.D31N NM_018934.2 NP_061757.1 Q9Y5E9 PCDBE_HUMAN 184 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TAAAATTCCCGACAGTAGTGA 0.418000 27 95 0 0 1 0 0 C4orf27 54969 broad.mit.edu 37 4 170671806 170671806 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:170671806C>T ENST00000393381.2 - 3 354 c.279G>A c.(277-279)acG>acA p.T93T NM_017867.2 NP_060337.2 Q9NWY4 CD027_HUMAN chromosome 4 open reading frame 27 93 nucleus NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1) 12 Prostate(90;0.00601)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.018)|LUSC - Lung squamous cell carcinoma(193;0.116) ATTTTTTCTTCGTTTTATGTT 0.333000 42 152 0 0 1 0 0 ACAD10 80724 broad.mit.edu 37 12 112194271 112194271 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:112194271C>T ENST00000455480.2 + 22 3444 c.3267C>T c.(3265-3267)cgC>cgT p.R1089R ACAD10_ENST00000313698.4_Silent_p.R1058R|RP11-162P23.2_ENST00000546840.2_Intron NM_001136538.1 NP_001130010.1 Q6JQN1 ACD10_HUMAN acyl-CoA dehydrogenase family, member 10 1058 acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5) 47 TGAAGCACCGCATTTAGAGCC 0.622000 11 28 0 0 1 0 0 LUC7L 55692 broad.mit.edu 37 16 249183 249183 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:249183C>T ENST00000337351.4 - 6 688 c.565G>A c.(565-567)Gtc>Atc p.V189I LUC7L_ENST00000397783.1_Missense_Mutation_p.V189I|LUC7L_ENST00000293872.8_Missense_Mutation_p.V189I|LUC7L_ENST00000397780.1_Missense_Mutation_p.V136I NM_018032.3 NP_060502.1 Q9NQ29 LUC7L_HUMAN LUC7-like (S. cerevisiae) 189 metal ion binding NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1) 11 all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306) ACCTCGCAGACACGCAGCTTT 0.478000 40 103 0 0 1 0 0 PTGER4 5734 broad.mit.edu 37 5 40681477 40681477 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:40681477A>G ENST00000302472.3 + 2 1406 c.382A>G c.(382-384)Agc>Ggc p.S128G PTGER4_ENST00000514343.1_3'UTR NM_000958.2 NP_000949.1 P35408 PE2R4_HUMAN prostaglandin E receptor 4 (subtype EP4) 128 G-protein signaling, coupled to cAMP nucleotide second messenger|immune response integral to membrane|plasma membrane prostaglandin E receptor activity breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 CTATTTCTACAGCCACTACGT 0.572000 OREG0016588 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 30 290 0 0 1 0 0 CACNA1C 775 broad.mit.edu 37 12 2797785 2797785 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:2797785G>A ENST00000399655.1 + 46 6222 c.5957G>A c.(5956-5958)aGc>aAc p.S1986N CACNA1C_ENST00000399597.1_Missense_Mutation_p.S1986N|CACNA1C_ENST00000399637.1_Missense_Mutation_p.S2005N|CACNA1C_ENST00000399601.1_Missense_Mutation_p.S1986N|CACNA1C_ENST00000399641.1_Missense_Mutation_p.S1986N|CACNA1C_ENST00000399649.1_Missense_Mutation_p.S1992N|CACNA1C_ENST00000399603.1_Missense_Mutation_p.S1986N|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399617.1_Missense_Mutation_p.S2021N|CACNA1C_ENST00000399606.1_Missense_Mutation_p.S2006N|CACNA1C_ENST00000327702.7_Missense_Mutation_p.S2021N|CACNA1C_ENST00000347598.4_Missense_Mutation_p.S2034N|CACNA1C_ENST00000399638.1_Missense_Mutation_p.S2014N|CACNA1C_ENST00000399634.1_Missense_Mutation_p.S2057N|CACNA1C_ENST00000399621.1_Missense_Mutation_p.S2005N|CACNA1C_ENST00000344100.3_Missense_Mutation_p.S2027N|CACNA1C_ENST00000399595.1_Missense_Mutation_p.S1994N|CACNA1C_ENST00000406454.3_Missense_Mutation_p.S2057N|CACNA1C_ENST00000399629.1_Missense_Mutation_p.S2003N|CACNA1C_ENST00000399591.1_Missense_Mutation_p.S1994N|CACNA1C_ENST00000402845.3_Missense_Mutation_p.S2005N|CACNA1C_ENST00000399644.1_Missense_Mutation_p.S1986N|CACNA1C_ENST00000335762.5_Missense_Mutation_p.S2011N NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 2069 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) CTCAACAGCAGCTTCCCATCC 0.716000 25 120 0 0 1 0 0 KAT6A 7994 broad.mit.edu 37 8 41839364 41839364 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:41839364T>C ENST00000396930.3 - 5 1361 c.818A>G c.(817-819)aAa>aGa p.K273R KAT6A_ENST00000406337.1_Missense_Mutation_p.K273R|KAT6A_ENST00000265713.2_Missense_Mutation_p.K273R|KAT6A_ENST00000485568.1_Missense_Mutation_p.K273R NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 273 histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding CACCGCATTTTTGCCTTGATC 0.423000 9 29 0 0 1 0 0 AMER3 205147 broad.mit.edu 37 2 131520420 131520420 + Missense_Mutation SNP T T A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:131520420T>A ENST00000423981.1 + 2 885 c.775T>A c.(775-777)Tcg>Acg p.S259T AMER3_ENST00000321420.4_Missense_Mutation_p.S259T NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2 NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2 APC membrane recruitment protein 3 AGATGAGAGCTCGGTGCCATC 0.642000 5 113 0 0 1 0 0 AKR1C4 1109 broad.mit.edu 37 10 5242185 5242185 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:5242185A>G ENST00000380448.1 + 4 379 c.126A>G c.(124-126)atA>atG p.I42M AKR1CL1_ENST00000445191.1_Intron|AKR1C4_ENST00000263126.1_Missense_Mutation_p.I42M P17516 AK1C4_HUMAN aldo-keto reductase family 1, member C4 42 androgen metabolic process|bile acid biosynthetic process cytosol aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1) 18 NADH(DB00157) AATTAGCAATAGAAGCTGGCT 0.448000 30 104 0 0 1 0 0 CELA3A 10136 broad.mit.edu 37 1 22336235 22336235 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:22336235A>G ENST00000290122.3 + 7 699 c.680A>G c.(679-681)gAt>gGt p.D227G NM_005747.4 NP_005738.4 chymotrypsin-like elastase family, member 3A endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 CCCACAGAGGATGGTGGCTGG 0.577000 19 63 0 0 1 0 0 GTF2IRD1 9569 broad.mit.edu 37 7 73973362 73973362 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:73973362T>C ENST00000476977.1 + 21 3970 c.2279T>C c.(2278-2280)tTc>tCc p.F760S GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.F760S|GTF2IRD1_ENST00000265755.3_Missense_Mutation_p.F775S|GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.F792S Q9UHL9 GT2D1_HUMAN GTF2I repeat domain containing 1 775 nucleus DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 AAGATCAAGTTCACAGTCACC 0.567000 6 88 0 0 1 0 0 TNR 7143 broad.mit.edu 37 1 175334212 175334212 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:175334212T>C ENST00000367674.1 - 12 3229 c.2521A>G c.(2521-2523)Att>Gtt p.I841V TNR_ENST00000263525.2_Missense_Mutation_p.I841V NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 841 Fibronectin type-III 6. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) AGGTTCACAATATACTCTGTG 0.567000 4 92 0 0 1 0 0 AARS2 57505 broad.mit.edu 37 6 44275104 44275104 + Nonsense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:44275104G>A ENST00000244571.4 - 6 924 c.922C>T c.(922-924)Cga>Tga p.R308* TMEM151B_ENST00000438774.2_3'UTR NM_020745.3 NP_065796.1 Q5JTZ9 SYAM_HUMAN alanyl-tRNA synthetase 2, mitochondrial 308 alanyl-tRNA aminoacylation mitochondrion alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1) 34 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) L-Alanine(DB00160) ACCCCTACTCGGCCCAAGTAA 0.632000 9 6 0 0 1 0 0 TMEM135 65084 broad.mit.edu 37 11 86778844 86778844 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:86778844G>A ENST00000340353.7 + 2 452 c.250G>A c.(250-252)Gct>Act p.A84T TMEM135_ENST00000305494.5_Missense_Mutation_p.A84T|TMEM135_ENST00000532959.1_Intron|TMEM135_ENST00000355734.4_Missense_Mutation_p.A84T|TMEM135_ENST00000535167.1_5'UTR NM_001168724.1 NP_001162195.1 Q86UB9 TM135_HUMAN transmembrane protein 135 84 integral to membrane NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 17 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) CTTGTATATGGCTTTCTTTTG 0.338000 20 32 0 0 1 0 0 IL4R 3566 broad.mit.edu 37 16 27373961 27373961 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:27373961T>C ENST00000395762.2 + 11 1547 c.1288T>C c.(1288-1290)Tca>Cca p.S430P IL4R_ENST00000380922.3_Missense_Mutation_p.S415P|IL4R_ENST00000543915.2_Missense_Mutation_p.S430P|IL4R_ENST00000170630.2_Missense_Mutation_p.S430P NM_000418.3 NP_000409.1 P24394 IL4RA_HUMAN interleukin 4 receptor 430 immune response|production of molecular mediator involved in inflammatory response integral to plasma membrane identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 33 CATGGGGGAGTCATGCCTTCT 0.617000 35 79 0 0 1 0 0 MAP3K6 9064 broad.mit.edu 37 1 27691380 27691380 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:27691380T>C ENST00000493901.1 - 3 603 c.364A>G c.(364-366)Agc>Ggc p.S122G MAP3K6_ENST00000374040.3_Missense_Mutation_p.S122G|MAP3K6_ENST00000357582.2_Missense_Mutation_p.S122G NM_004672.3 NP_004663.3 O95382 M3K6_HUMAN mitogen-activated protein kinase kinase kinase 6 122 activation of JUN kinase activity ATP binding|magnesium ion binding|MAP kinase kinase kinase activity breast(4)|central_nervous_system(2)|lung(3)|ovary(1) 10 all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) ACCAGCGAGCTGCTCACCTCC 0.622000 19 56 0 0 1 0 0 SMG7 9887 broad.mit.edu 37 1 183495741 183495741 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:183495741A>G ENST00000367537.3 + 6 605 c.410A>G c.(409-411)gAa>gGa p.E137G SMG7_ENST00000507469.1_Missense_Mutation_p.E108G|SMG7_ENST00000507406.1_3'UTR|SMG7_ENST00000508461.1_Missense_Mutation_p.E66G|SMG7_ENST00000515829.2_Missense_Mutation_p.E108G|SMG7_ENST00000347615.2_Missense_Mutation_p.E108G|SMG7_ENST00000456731.2_Missense_Mutation_p.E66G Q92540 SMG7_HUMAN SMG7 nonsense mediated mRNA decay factor 108 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|intermediate filament cytoskeleton|nucleus protein phosphatase 2A binding breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 TTATTACAAGAACTGTGTACA 0.343000 15 92 0 0 1 0 0 DFNB31 25861 broad.mit.edu 37 9 117266652 117266652 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:117266652G>A ENST00000362057.3 - 1 598 c.430C>T c.(430-432)Cgg>Tgg p.R144W DFNB31_ENST00000374057.3_Missense_Mutation_p.R144W NM_001173425.1|NM_015404.3 NP_001166896.1|NP_056219.3 Q9P202 WHRN_HUMAN deafness, autosomal recessive 31 144 PDZ 1. inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound cytoplasm|growth cone|stereocilium central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 TTGGCACGCCGCAAACTCACC 0.721000 22 63 0 0 1 0 0 NUMA1 4926 broad.mit.edu 37 11 71723445 71723445 + Splice_Site SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:71723445A>G ENST00000393695.3 - 16 4982 c.e16+1 NUMA1_ENST00000358965.6_Intron|NUMA1_ENST00000351960.6_Intron NM_006185.2 NP_006176.2 Q14980 NUMA1_HUMAN nuclear mitotic apparatus protein 1 G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole protein binding|structural molecule activity central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 65 CTCAGGCATTACCTGCTTAGT 0.547000 T RARA APL 21 101 0 0 1 0 0 PPFIA3 8541 broad.mit.edu 37 19 49631148 49631148 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:49631148G>A ENST00000334186.4 + 2 367 c.18G>A c.(16-18)atG>atA p.M6I PPFIA3_ENST00000602351.1_Missense_Mutation_p.M6I NM_003660.2 NP_003651.1 O75145 LIPA3_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3 6 cell surface|cytoplasm protein binding NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1) 35 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677) GCGAGGTGATGCCCACCATCA 0.706000 8 31 0 0 1 0 0 KCNH3 23416 broad.mit.edu 37 12 49938030 49938030 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:49938030T>C ENST00000257981.6 + 7 1314 c.1054T>C c.(1054-1056)Tac>Cac p.Y352H NM_012284.1 NP_036416.1 Q9ULD8 KCNH3_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 3 352 regulation of transcription, DNA-dependent integral to membrane two-component sensor activity|voltage-gated potassium channel activity NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 36 GCTGGACCGGTACTCGCAGTA 0.672000 5 19 0 0 1 0 0 ZBTB40 9923 broad.mit.edu 37 1 22835204 22835204 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:22835204C>T ENST00000404138.1 + 9 2190 c.1679C>T c.(1678-1680)gCc>gTc p.A560V ZBTB40_ENST00000375647.4_Missense_Mutation_p.A560V|ZBTB40_ENST00000374651.4_Missense_Mutation_p.A448V NM_001083621.1 NP_001077090.1 Q9NUA8 ZBT40_HUMAN zinc finger and BTB domain containing 40 560 bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) GAGCCTGGTGCCGATGCTTTC 0.542000 25 57 0 0 1 0 0 NT5E 4907 broad.mit.edu 37 6 86176945 86176945 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:86176945A>G ENST00000257770.3 + 2 556 c.507A>G c.(505-507)gaA>gaG p.E169E NT5E_ENST00000369646.3_Silent_p.E169E|NT5E_ENST00000369651.3_Silent_p.E169E NM_002526.3 NP_002517.1 P21589 5NTD_HUMAN 5'-nucleotidase, ecto (CD73) 169 DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process anchored to membrane|cytoplasm|membrane fraction|plasma membrane 5'-nucleotidase activity|nucleotide binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427) BRCA - Breast invasive adenocarcinoma(108;0.0417) Pentoxifylline(DB00806) TTGGTGATGAAGTTGTGGGAA 0.378000 4 56 0 0 1 0 0 B3GALT6 126792 broad.mit.edu 37 1 1168029 1168029 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:1168029C>T ENST00000379198.2 + 1 401 c.371C>T c.(370-372)gCg>gTg p.A124V NM_080605.3 NP_542172.2 Q96L58 B3GT6_HUMAN UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6 124 glycosaminoglycan biosynthetic process|protein glycosylation Golgi cisterna membrane|Golgi medial cisterna|integral to membrane galactosylxylosylprotein 3-beta-galactosyltransferase activity lung(3) 3 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.22e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) CTGCTGCCCGCGCTGCGCGAC 0.736000 16 20 0 0 1 0 0 ABCA6 23460 broad.mit.edu 37 17 67080594 67080594 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:67080594T>C ENST00000284425.2 - 33 4413 c.4239A>G c.(4237-4239)ttA>ttG p.L1413L ABCA6_ENST00000446604.2_5'UTR NM_080284.2 NP_525023.2 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A (ABC1), member 6 1413 ABC transporter 2. transport integral to membrane ATP binding|ATPase activity breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 82 Breast(10;5.65e-12) TTCCTGCTGTTAATTTCTGCA 0.443000 10 335 0 0 1 0 0 EFNA1 1942 broad.mit.edu 37 1 155106009 155106009 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:155106009G>A ENST00000368407.3 + 3 937 c.419G>A c.(418-420)tGc>tAc p.C140Y EFNA1_ENST00000469878.1_3'UTR|EFNA1_ENST00000368406.2_Intron NM_004428.2 NP_004419.2 P20827 EFNA1_HUMAN ephrin-A1 140 angiogenesis|aortic valve morphogenesis|cell migration|cell-cell signaling|endocardial cushion to mesenchymal transition involved in heart valve formation|ephrin receptor signaling pathway|mitral valve morphogenesis|negative regulation of epithelial to mesenchymal transition|negative regulation of transcription from RNA polymerase II promoter|positive regulation of peptidyl-tyrosine phosphorylation|regulation of cell adhesion mediated by integrin|substrate adhesion-dependent cell spreading extracellular region|integral to plasma membrane ephrin receptor binding breast(1)|endometrium(1)|kidney(1)|lung(1)|skin(1) 5 all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193) GAAGACCGCTGCTTGAGGTTG 0.502000 31 85 0 0 1 0 0 DVL3 1857 broad.mit.edu 37 3 183884283 183884283 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:183884283T>C ENST00000313143.3 + 9 1201 c.953T>C c.(952-954)gTa>gCa p.V318A DVL3_ENST00000431765.1_Missense_Mutation_p.V318A|EIF2B5_ENST00000444495.1_Intron NM_004423.3 NP_004414.3 Q92997 DVL3_HUMAN dishevelled segment polarity protein 3 318 PDZ. canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent cytoplasm beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1) 35 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22) GCAGTCCGGGTACTGCGGGAG 0.537000 56 138 0 0 1 0 0 NLRP5 126206 broad.mit.edu 37 19 56539284 56539284 + Missense_Mutation SNP G G A rs34175666 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:56539284G>A ENST00000390649.3 + 7 1685 c.1685G>A c.(1684-1686)cGt>cAt p.R562H NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 562 NACHT. mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) TCTGAGCTCCGTGCTCTGTTT 0.542000 8 27 0 0 1 0 0 EXOC6 54536 broad.mit.edu 37 10 94679786 94679786 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:94679786T>C ENST00000371552.4 + 8 881 c.852T>C c.(850-852)tgT>tgC p.C284C EXOC6_ENST00000260762.6_Silent_p.C289C|EXOC6_ENST00000371547.4_Silent_p.C305C|EXOC6_ENST00000443748.2_Intron NM_001013848.2 NP_001013870.1 Q8TAG9 EXOC6_HUMAN exocyst complex component 6 289 protein transport|vesicle docking involved in exocytosis exocyst cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 26 Colorectal(252;0.123) TTTATCGATGTTTGCACATTT 0.264000 8 26 0 0 1 0 0 PCDHGA12 26025 broad.mit.edu 37 5 140811955 140811955 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:140811955C>T ENST00000252085.3 + 1 1771 c.1629C>T c.(1627-1629)agC>agT p.S543S PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron NM_003735.2|NM_032094.1 NP_003726.1|NP_115265.1 breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 58 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCCCCTCAGCAGCAACGTGT 0.622000 88 260 0 0 1 0 0 CNTN2 6900 broad.mit.edu 37 1 205027164 205027164 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:205027164C>T ENST00000331830.4 + 3 470 c.186C>T c.(184-186)cgC>cgT p.R62R NM_005076.3 NP_005067.1 Q02246 CNTN2_HUMAN contactin 2 (axonal) 62 Ig-like C2-type 1. axon guidance|clustering of voltage-gated potassium channels anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part identical protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 54 all_cancers(21;0.144)|Breast(84;0.0437) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) TGGCATGCCGCGCCCGGGCCA 0.637000 9 44 0 0 1 0 0 VCPIP1 80124 broad.mit.edu 37 8 67546882 67546882 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:67546882T>C ENST00000310421.4 - 3 3781 c.3523A>G c.(3523-3525)Act>Gct p.T1175A NM_025054.4 NP_079330.2 Q96JH7 VCIP1_HUMAN valosin containing protein (p97)/p47 complex interacting protein 1 1175 protein ubiquitination endoplasmic reticulum|Golgi stack ubiquitin-specific protease activity breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 Lung NSC(129;0.142)|all_lung(136;0.227) Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149) CAGCCATCAGTTGTTTCTGTA 0.448000 39 156 0 0 1 0 0 TFPI 7035 broad.mit.edu 37 2 188332546 188332546 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:188332546T>C ENST00000233156.3 - 7 1036 c.742A>G c.(742-744)Agt>Ggt p.S248G AC007319.1_ENST00000412276.1_RNA|AC007319.1_ENST00000453517.1_RNA|TFPI_ENST00000392365.1_Missense_Mutation_p.S248G NM_006287.4 NP_006278.1 P10646 TFPI1_HUMAN tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor) 248 BPTI/Kunitz inhibitor 3. blood coagulation, extrinsic pathway extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1) 9 OV - Ovarian serous cystadenocarcinoma(117;0.0554) Coagulation factor VIIa(DB00036) CCACATCCACTGTACTTAAAT 0.408000 27 93 0 0 1 0 0 REPIN1 29803 broad.mit.edu 37 7 150069682 150069682 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:150069682G>A ENST00000397281.2 + 4 1841 c.1352G>A c.(1351-1353)cGc>cAc p.R451H REPIN1_ENST00000489432.2_Missense_Mutation_p.R508H|REPIN1_ENST00000444957.1_Missense_Mutation_p.R451H|REPIN1_ENST00000425389.2_Missense_Mutation_p.R451H|REPIN1_ENST00000540729.1_Missense_Mutation_p.R451H|REPIN1_ENST00000479668.1_3'UTR NM_013400.3 NP_037532.2 Q9BWE0 REPI1_HUMAN replication initiator 1 451 R -> P (in Ref. 1; AAF26712). DNA replication nuclear origin of replication recognition complex DNA binding|zinc ion binding cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 14 Ovarian(565;0.183)|Melanoma(164;0.226) OV - Ovarian serous cystadenocarcinoma(82;0.011) GCGCATCGGCGCGACCACGCC 0.741000 9 43 0 0 1 0 0 ARHGAP17 55114 broad.mit.edu 37 16 24965979 24965979 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:24965979G>A ENST00000289968.6 - 10 866 c.797C>T c.(796-798)gCg>gTg p.A266V ARHGAP17_ENST00000441763.2_3'UTR|ARHGAP17_ENST00000303665.5_Missense_Mutation_p.A266V NM_001006634.1 NP_001006635.1 Q68EM7 RHG17_HUMAN Rho GTPase activating protein 17 266 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|tight junction GTPase activator activity|SH3 domain binding breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2) 30 GBM - Glioblastoma multiforme(48;0.0407) AATGGGCAGCGCAATCTCGCG 0.547000 70 205 0 0 1 0 0 IL20RA 53832 broad.mit.edu 37 6 137338204 137338204 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:137338204T>C ENST00000316649.5 - 2 360 c.125A>G c.(124-126)aAc>aGc p.N42S IL20RA_ENST00000367748.1_5'UTR|IL20RA_ENST00000541547.1_5'UTR|IL20RA_ENST00000468393.1_5'UTR|IL20RA_ENST00000367746.3_Missense_Mutation_p.N42S NM_014432.2 NP_055247.2 Q9UHF4 I20RA_HUMAN interleukin 20 receptor, alpha 42 Fibronectin type-III 1. integral to membrane receptor activity NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459) GAAGGTGATGTTTGCAGGTTT 0.418000 3 59 0 0 1 0 0 LACTB 114294 broad.mit.edu 37 15 63419875 63419875 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:63419875G>A ENST00000413507.2 + 4 978 c.939G>A c.(937-939)ttG>ttA p.L313L LACTB_ENST00000261893.4_Silent_p.L313L|RPS27L_ENST00000559763.1_Intron NM_171846.2 NP_741982.1 P83111 LACTB_HUMAN lactamase, beta 313 mitochondrion hydrolase activity NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1) 12 ATGATCCTTTGTTCTTCAAAC 0.313000 4 26 0 0 1 0 0 NEK10 152110 broad.mit.edu 37 3 27353644 27353644 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:27353644A>G ENST00000429845.2 - 9 876 c.514T>C c.(514-516)Tac>Cac p.Y172H NEK10_ENST00000341435.5_Missense_Mutation_p.Y172H Q6ZWH5 NEK10_HUMAN NIMA-related kinase 10 172 ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 TAGCCGAGGTACTCATTGGCT 0.478000 9 22 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53855702 53855702 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:53855702A>G ENST00000458035.1 + 4 1891 c.1774A>G c.(1774-1776)Aca>Gca p.T592A ZNF845_ENST00000595091.1_Missense_Mutation_p.T592A NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 592 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 TAGTAATGCTACAACCATTGC 0.378000 3 48 0 0 1 0 0 RAD54L 8438 broad.mit.edu 37 1 46726410 46726410 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:46726410C>T ENST00000371975.4 + 7 1163 c.489C>T c.(487-489)ttC>ttT p.F163F RAD54L_ENST00000442598.1_Silent_p.F163F NM_003579.3 NP_003570.2 Q92698 RAD54_HUMAN RAD54-like (S. cerevisiae) 163 meiosis nucleus ATP binding|DNA binding|helicase activity breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 25 Acute lymphoblastic leukemia(166;0.155) Breast(1374;0.0634) KIRC - Kidney renal clear cell carcinoma(1967;0.000896) GAGTGAAATTCCTGTGGGAGT 0.562000 Direct reversal of damage;Homologous recombination 5 97 0 0 1 0 0 KIAA0556 23247 broad.mit.edu 37 16 27709681 27709681 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:27709681G>A ENST00000261588.4 + 9 992 c.973G>A c.(973-975)Gca>Aca p.A325T KIAA0556_ENST00000567894.1_3'UTR|CTD-2049O4.1_ENST00000564893.1_RNA NM_015202.2 NP_056017.2 O60303 K0556_HUMAN KIAA0556 325 breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 76 ACCCCTGTCTGCAACCCGCAA 0.572000 58 207 0 0 1 0 0 SIK2 23235 broad.mit.edu 37 11 111594826 111594826 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:111594826A>G ENST00000304987.3 + 15 2927 c.2754A>G c.(2752-2754)caA>caG p.Q918Q NM_015191.1 NP_056006.1 Q9H0K1 SIK2_HUMAN salt-inducible kinase 2 918 intracellular protein kinase cascade|regulation of insulin receptor signaling pathway Golgi apparatus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 30 TGGATCCACAACACAACGGGT 0.498000 19 55 0 0 1 0 0 RIPK4 54101 broad.mit.edu 37 21 43162146 43162146 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr21:43162146T>C ENST00000352483.2 - 9 1415 c.1351A>G c.(1351-1353)Aca>Gca p.T451A RIPK4_ENST00000332512.3_Missense_Mutation_p.T403A|RIPK4_ENST00000544709.1_Missense_Mutation_p.T340A|RIPK4_ENST00000542057.1_Missense_Mutation_p.T340A Q96T11 Q96T11_HUMAN receptor-interacting serine-threonine kinase 4 403 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 TGGACGTCTGTGGTGCCCAGA 0.617000 8 287 0 0 1 0 0 LIN28A 79727 broad.mit.edu 37 1 26752828 26752828 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:26752828T>C ENST00000326279.6 + 4 623 c.509T>C c.(508-510)aTg>aCg p.M170T LIN28A_ENST00000254231.4_Missense_Mutation_p.M170T NM_024674.4 NP_078950.1 Q9H9Z2 LN28A_HUMAN lin-28 homolog A (C. elegans) 170 miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing|stem cell maintenance cytoplasmic mRNA processing body|nucleolus|stress granule DNA binding|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2) 8 ATCAGCCATATGGTAGCCTCA 0.547000 14 123 0 0 1 0 0 CDH22 64405 broad.mit.edu 37 20 44803673 44803673 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:44803673G>A ENST00000372262.3 - 11 2359 c.1959C>T c.(1957-1959)agC>agT p.S653S CDH22_ENST00000537909.1_Silent_p.S653S NM_021248.1 NP_067071.1 Q9UJ99 CAD22_HUMAN cadherin 22, type 2 653 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 44 Myeloproliferative disorder(115;0.0122) AGCTCAGGTGGCTCTTGTGGT 0.622000 6 69 0 0 1 0 0 FAM86EP 348926 broad.mit.edu 37 4 3948457 3948457 + RNA SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:3948457C>T ENST00000313946.8 - 0 1232 AGGGACAGCTCGGGGACCATG 0.627000 25 80 0 0 1 0 0 OR12D3 81797 broad.mit.edu 37 6 29342679 29342679 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:29342679C>T ENST00000396806.3 - 1 389 c.386G>A c.(385-387)cGc>cAc p.R129H OR5V1_ENST00000377154.1_Intron NM_030959.2 NP_112221.1 Q9UGF7 O12D3_HUMAN olfactory receptor, family 12, subfamily D, member 3 129 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3) 23 GACAGTGTAGCGAAGAGGATT 0.493000 14 61 0 0 1 0 0 BCL9 607 broad.mit.edu 37 1 147096415 147096415 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:147096415C>T ENST00000234739.3 + 10 4676 c.3936C>T c.(3934-3936)ggC>ggT p.G1312G NM_004326.2 NP_004317.2 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 1312 Pro-rich. Wnt receptor signaling pathway nucleus protein binding breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 7 all_hematologic(923;0.115) CCATGCCAGGCCACAACCCCA 0.577000 T """IGH@, IGL@""" B-ALL 23 70 0 0 1 0 0 HERC2P3 283755 broad.mit.edu 37 15 20658921 20658921 + RNA SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:20658921G>A ENST00000428453.1 - 0 1945 central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 ACAAAACATCGCATACGGCAC 0.388000 14 104 0 0 1 0 0 MAPK4 5596 broad.mit.edu 37 18 48252422 48252422 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr18:48252422A>G ENST00000400384.2 + 5 1980 c.944A>G c.(943-945)tAc>tGc p.Y315C MAPK4_ENST00000592595.1_Intron|MAPK4_ENST00000540640.1_Missense_Mutation_p.Y104C NM_002747.3 NP_002738.2 P31152 MK04_HUMAN mitogen-activated protein kinase 4 315 cell cycle ATP binding|MAP kinase activity lung(4)|skin(3)|upper_aerodigestive_tract(1) 8 Colorectal(6;0.0297) Colorectal(21;0.156) ATGAGCCCATACTCGTGCCCT 0.577000 42 116 0 0 1 0 0 OR5B12 390191 broad.mit.edu 37 11 58206860 58206860 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:58206860A>G ENST00000302572.2 - 1 786 c.765T>C c.(763-765)ttT>ttC p.F255F NM_001004733.2 NP_001004733.1 Q96R08 OR5BC_HUMAN olfactory receptor, family 5, subfamily B, member 12 255 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1) 40 Esophageal squamous(5;0.0027) Breast(21;0.0778) GTAAGTACATAAAGATTCCTG 0.458000 28 67 0 0 1 0 0 PCDHA2 56146 broad.mit.edu 37 5 140176132 140176132 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:140176132T>C ENST00000526136.1 + 1 1583 c.1583T>C c.(1582-1584)gTg>gCg p.V528A PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.V528A|PCDHA2_ENST00000520672.2_Missense_Mutation_p.V528A NM_018905.2 NP_061728.1 NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACGAGGAAGTGGAGCTGCTG 0.682000 65 157 0 0 1 0 0 CACHD1 57685 broad.mit.edu 37 1 65138890 65138890 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:65138890A>G ENST00000371073.2 + 18 2560 c.2560A>G c.(2560-2562)Atc>Gtc p.I854V CACHD1_ENST00000290039.5_Missense_Mutation_p.I803V|CACHD1_ENST00000495994.1_3'UTR Q5VU97 CAHD1_HUMAN cache domain containing 1 854 calcium ion transport integral to membrane breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 CCCGACTCTCATCGACCCCAA 0.493000 12 226 0 0 1 0 0 TECPR2 9895 broad.mit.edu 37 14 102963965 102963965 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:102963965C>T ENST00000359520.7 + 19 4216 c.3990C>T c.(3988-3990)aaC>aaT p.N1330N NM_014844.3 NP_055659.2 O15040 TCPR2_HUMAN tectonin beta-propeller repeat containing 2 1330 protein binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 50 GCTGTCCAAACGGAGACCTCG 0.667000 6 22 0 0 1 0 0 AGAP2 116986 broad.mit.edu 37 12 58125404 58125404 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:58125404C>T ENST00000257897.3 - 9 1052 c.967G>A c.(967-969)Gag>Aag p.E323K AGAP2_ENST00000547588.1_Missense_Mutation_p.E659K NM_014770.3 NP_055585.1 Q99490 AGAP2_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 659 Interaction with PLCG1 (By similarity). axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction mitochondrion|nucleolus ARF GTPase activator activity|GTP binding|zinc ion binding p.E659K(1)|p.E323K(1) breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1) 48 CTTCGTTTCTCGGAGTCACTA 0.522000 24 79 0 0 1 0 0 PCDHGA8 9708 broad.mit.edu 37 5 140773130 140773130 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:140773130A>G ENST00000398604.2 + 1 750 c.750A>G c.(748-750)aaA>aaG p.K250K PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron NM_032088.1 NP_114477.1 endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 51 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACCGAGTGAAAGTCCTTGAGA 0.542000 57 139 0 0 1 0 0 POLR3A 11128 broad.mit.edu 37 10 79782066 79782066 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:79782066T>C ENST00000372371.3 - 6 859 c.722A>G c.(721-723)aAc>aGc p.N241S NM_007055.3 NP_008986.2 O14802 RPC1_HUMAN polymerase (RNA) III (DNA directed) polypeptide A, 155kDa 241 innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095) Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646) GGCTTCTGGGTTCATCAGAAG 0.438000 21 45 0 0 1 0 0 ZNF202 7753 broad.mit.edu 37 11 123601221 123601221 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:123601221T>C ENST00000336139.4 - 3 738 c.376A>G c.(376-378)Aaa>Gaa p.K126E ZNF202_ENST00000530393.1_Missense_Mutation_p.K126E|ZNF202_ENST00000529691.1_Missense_Mutation_p.K126E O95125 ZN202_HUMAN zinc finger protein 202 126 SCAN box. lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 30 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03) CTGGGTTGTTTCTGCAAACCC 0.587000 14 188 0 0 1 0 0 CNDP2 55748 broad.mit.edu 37 18 72185802 72185802 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr18:72185802C>T ENST00000324262.4 + 10 1453 c.1137C>T c.(1135-1137)ggC>ggT p.G379G CNDP2_ENST00000579847.1_Silent_p.G379G|CNDP2_ENST00000324301.8_Silent_p.G295G NM_018235.2 NP_060705.2 Q96KP4 CNDP2_HUMAN CNDP dipeptidase 2 (metallopeptidase M20 family) 379 cytoplasm carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3) 24 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.22) TGTACATGGGCCACGGTGGGA 0.502000 31 104 0 0 1 0 0 SPEF2 79925 broad.mit.edu 37 5 35646772 35646772 + Missense_Mutation SNP T T A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:35646772T>A ENST00000440995.2 + 5 589 c.589T>A c.(589-591)Tac>Aac p.Y197N SPEF2_ENST00000356031.3_Missense_Mutation_p.Y197N|SPEF2_ENST00000282469.6_Missense_Mutation_p.Y197N|SPEF2_ENST00000509059.1_Missense_Mutation_p.Y197N Q9C093 SPEF2_HUMAN sperm flagellar 2 197 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TATTCAGCAATACTTAAACAG 0.303000 5 118 0 0 1 0 0 CRYL1 51084 broad.mit.edu 37 13 21006355 21006355 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr13:21006355G>A ENST00000382812.1 - 6 681 c.453C>T c.(451-453)caC>caT p.H151H CRYL1_ENST00000480748.1_5'UTR|CRYL1_ENST00000298248.7_Silent_p.H173H Q9Y2S2 CRYL1_HUMAN crystallin, lambda 1 173 fatty acid metabolic process cytosol 3-hydroxyacyl-CoA dehydrogenase activity|L-gulonate 3-dehydrogenase activity|NAD+ binding|protein homodimerization activity NS(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 14 all_cancers(29;2.27e-23)|all_epithelial(30;1.69e-19)|all_lung(29;8.29e-18)|Lung SC(185;0.0262)|Ovarian(182;0.0827)|Hepatocellular(188;0.244) all cancers(112;6.6e-05)|Epithelial(112;0.00178)|OV - Ovarian serous cystadenocarcinoma(117;0.0169)|Lung(94;0.0215)|GBM - Glioblastoma multiforme(144;0.0402)|LUSC - Lung squamous cell carcinoma(192;0.061) TCATCAGGGCGTGGGTTCTGT 0.582000 30 69 0 0 1 0 0 NAMPT 10135 broad.mit.edu 37 7 105894879 105894879 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:105894879T>C ENST00000222553.3 - 9 1468 c.1161A>G c.(1159-1161)ctA>ctG p.L387L NM_005746.2 NP_005737.1 P43490 NAMPT_HUMAN nicotinamide phosphoribosyltransferase 387 cell-cell signaling|NAD biosynthetic process|nicotinamide metabolic process|positive regulation of cell proliferation|positive regulation of nitric-oxide synthase biosynthetic process|signal transduction|water-soluble vitamin metabolic process cytosol cytokine activity|nicotinamide phosphoribosyltransferase activity|nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 14 TCAACTTCTGTAGCAAACCTC 0.358000 31 76 0 0 1 0 0 PCDHA3 56145 broad.mit.edu 37 5 140182072 140182072 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:140182072G>A ENST00000522353.2 + 1 1290 c.1290G>A c.(1288-1290)ggG>ggA p.G430G PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Silent_p.G430G|PCDHA2_ENST00000520672.2_Intron|PCDHA2_ENST00000526136.1_Intron NM_018906.2 NP_061729.1 NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCGGGACGGGGGCTCGCCTT 0.627000 70 222 0 0 1 0 0 KIAA0196 9897 broad.mit.edu 37 8 126059484 126059484 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:126059484T>C ENST00000318410.7 - 20 2818 c.2469A>G c.(2467-2469)cgA>cgG p.R823R KIAA0196_ENST00000517845.1_Silent_p.R675R NM_014846.3 NP_055661.3 Q12768 STRUM_HUMAN KIAA0196 823 cell death WASH complex NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 42 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) CTCTGCAGAGTCGACCAATAA 0.463000 8 72 0 0 1 0 0 RET 5979 broad.mit.edu 37 10 43596084 43596084 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:43596084A>G ENST00000355710.3 + 2 483 c.251A>G c.(250-252)aAc>aGc p.N84S RET_ENST00000340058.5_Missense_Mutation_p.N84S NM_020975.4 NP_066124.1 P07949 RET_HUMAN ret proto-oncogene 84 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 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) CATGAGAACAACTGGATCTGC 0.637000 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 8 25 0 0 1 0 0 ACSF3 197322 broad.mit.edu 37 16 89187260 89187260 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:89187260A>G ENST00000317447.4 + 7 1555 c.1178A>G c.(1177-1179)aAc>aGc p.N393S ACSF3_ENST00000406948.3_Missense_Mutation_p.N393S|ACSF3_ENST00000378345.4_Missense_Mutation_p.N128S NM_001127214.2|NM_001243279.1|NM_174917.3 NP_001120686.1|NP_001230208.1|NP_777577.2 Q4G176 ACSF3_HUMAN acyl-CoA synthetase family member 3 393 fatty acid metabolic process mitochondrion acid-thiol ligase activity|ATP binding central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1) 15 BRCA - Breast invasive adenocarcinoma(80;0.0281) GTCTCAGAAAACCCACAGAGG 0.602000 33 329 0 0 1 0 0 RALGAPB 57148 broad.mit.edu 37 20 37146167 37146167 + Nonsense_Mutation SNP C C G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:37146167C>G ENST00000262879.6 + 8 1354 c.1070C>G c.(1069-1071)tCa>tGa p.S357* RALGAPB_ENST00000397042.3_Nonsense_Mutation_p.S357*|RALGAPB_ENST00000397038.1_Nonsense_Mutation_p.S135*|RALGAPB_ENST00000537204.1_Nonsense_Mutation_p.S357*|RALGAPB_ENST00000397040.1_Nonsense_Mutation_p.S357* Q86X10 RLGPB_HUMAN Ral GTPase activating protein, beta subunit (non-catalytic) 357 activation of Ral GTPase activity intracellular protein heterodimerization activity|Ral GTPase activator activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 AGACCCCGATCAGACAGTGCT 0.418000 26 93 0 0 1 0 0 KBTBD4 55709 broad.mit.edu 37 11 47595031 47595031 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:47595031A>G ENST00000533290.1 - 3 1797 c.1083T>C c.(1081-1083)ggT>ggC p.G361G KBTBD4_ENST00000395288.2_Silent_p.G336G|NDUFS3_ENST00000533507.1_Intron|KBTBD4_ENST00000526005.1_Silent_p.G336G|KBTBD4_ENST00000430070.2_Silent_p.G352G Q9NVX7 KBTB4_HUMAN kelch repeat and BTB (POZ) domain containing 4 336 NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 24 GTGTCTTGCCACCCAGTGAAT 0.542000 19 56 0 0 1 0 0 MORC1 27136 broad.mit.edu 37 3 108788570 108788570 + Missense_Mutation SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:108788570A>T ENST00000232603.5 - 9 806 c.724T>A c.(724-726)Tct>Act p.S242T MORC1_ENST00000483760.1_Missense_Mutation_p.S242T NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 242 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 TACAGAACAGATGTGTAGGCT 0.378000 17 43 0 0 1 0 0 PROL1 58503 broad.mit.edu 37 4 71275344 71275344 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:71275344C>T ENST00000399575.2 + 3 473 c.299C>T c.(298-300)cCg>cTg p.P100L PROL1_ENST00000514338.1_3'UTR NM_021225.4 NP_067048.4 Q99935 PROL1_HUMAN proline rich, lacrimal 1 100 Pro-rich. regulation of sensory perception of pain extracellular region endopeptidase inhibitor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3) 15 all_hematologic(202;0.196) CGACTCTTTCCGGGTTATCCA 0.408000 58 165 0 0 1 0 0 PDZRN3 23024 broad.mit.edu 37 3 73433507 73433507 + Missense_Mutation SNP C C A rs147152211 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:73433507C>A ENST00000263666.4 - 10 2324 c.2210G>T c.(2209-2211)aGa>aTa p.R737I PDZRN3_ENST00000462146.2_Missense_Mutation_p.R394I|PDZRN3_ENST00000535920.1_Missense_Mutation_p.R459I|PDZRN3_ENST00000479530.1_Missense_Mutation_p.R454I|PDZRN3_ENST00000466780.1_Missense_Mutation_p.R394I NM_015009.1 NP_055824.1 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 737 ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) GAGCTCGTGTCTGCGCACGTC 0.617000 15 39 3.35478e-16 3.52021e-16 1 1 0 PRG4 10216 broad.mit.edu 37 1 186276402 186276402 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:186276402C>T ENST00000445192.2 + 7 1596 c.1551C>T c.(1549-1551)acC>acT p.T517T PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Silent_p.T476T|PRG4_ENST00000367486.3_Silent_p.T474T|PRG4_ENST00000367485.4_Silent_p.T424T NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 517 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CTTCACCCACCACTCCCAAGG 0.642000 5 176 0 0 1 0 0 STON1-GTF2A1L 286749 broad.mit.edu 37 2 48869597 48869597 + Splice_Site SNP G G C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:48869597G>C ENST00000394754.1 + 6 2529 c.e6+1 STON1-GTF2A1L_ENST00000405008.1_Splice_Site|STON1-GTF2A1L_ENST00000402114.2_Splice_Site|STON1-GTF2A1L_ENST00000394751.3_Intron|GTF2A1L_ENST00000468326.1_Splice_Site|GTF2A1L_ENST00000430487.2_Splice_Site|GTF2A1L_ENST00000403751.3_Splice_Site|LHCGR_ENST00000420913.3_Intron|STON1-GTF2A1L_ENST00000309827.2_Splice_Site NM_172311.2 NP_758515.1 B7ZL16 B7ZL16_HUMAN endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter clathrin adaptor complex|transcription factor TFIIA complex NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4) 91 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) AGCAGAACTGGTATGTAGCTT 0.348000 5 20 0 0 1 0 0 SLC25A32 81034 broad.mit.edu 37 8 104419961 104419961 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:104419961A>G ENST00000297578.4 - 2 372 c.206T>C c.(205-207)tTg>tCg p.L69S SLC25A32_ENST00000543107.1_5'UTR NM_030780.3 NP_110407.2 Q9H2D1 MFTC_HUMAN solute carrier family 25 (mitochondrial folate carrier), member 32 69 folic acid metabolic process|mitochondrial transport integral to membrane|mitochondrial inner membrane binding|folic acid transporter activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2) 9 OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197) Folic Acid(DB00158) AATGGTAGTCAAGCAATGTAA 0.413000 34 169 0 0 1 0 0 ZNF629 23361 broad.mit.edu 37 16 30794875 30794875 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:30794875G>A ENST00000262525.4 - 3 981 c.774C>T c.(772-774)ggC>ggT p.G258G NM_001080417.1 NP_001073886.1 Q9UEG4 ZN629_HUMAN zinc finger protein 629 258 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1) 22 Colorectal(24;0.198) AGGGCTTCTCGCCGGTGTGGG 0.622000 37 101 0 0 1 0 0 ZNF48 197407 broad.mit.edu 37 16 30410127 30410127 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:30410127A>G ENST00000320159.2 + 2 1932 c.1556A>G c.(1555-1557)aAc>aGc p.N519S NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2 NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2 Q96MX3 ZNF48_HUMAN zinc finger protein 48 519 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1) 21 CGGCCACATAACCCACCTGGC 0.657000 56 143 0 0 1 0 0 PCDHB16 57717 broad.mit.edu 37 5 140563856 140563856 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:140563856G>A ENST00000361016.2 + 1 2877 c.1722G>A c.(1720-1722)gaG>gaA p.E574E NM_020957.1 NP_066008.1 Q9NRJ7 PCDBG_HUMAN 574 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1) 69 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCTGCACTGAGCTGGTGCCCC 0.697000 5 178 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76430135 76430135 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:76430135T>C ENST00000389840.5 - 75 12306 c.12182A>G c.(12181-12183)tAc>tGc p.Y4061C DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.Y4062C dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) CAGGTAGTTGTAGAGCACGTT 0.612000 51 168 0 0 1 0 0 PACSIN3 29763 broad.mit.edu 37 11 47201009 47201009 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:47201009A>G ENST00000539589.1 - 7 1074 c.732T>C c.(730-732)gaT>gaC p.D244D PACSIN3_ENST00000298838.6_Silent_p.D244D NM_001184975.1 NP_001171904.1 Q9UKS6 PACN3_HUMAN protein kinase C and casein kinase substrate in neurons 3 244 endocytosis|negative regulation of endocytosis|positive regulation of membrane protein ectodomain proteolysis cytoplasm|plasma membrane cytoskeletal protein binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5) 11 TGAGCAGCATATCCTTGAAGA 0.567000 OREG0020952 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 24 50 0 0 1 0 0 KIF13A 63971 broad.mit.edu 37 6 17809131 17809131 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:17809131T>C ENST00000378814.5 - 18 2030 c.2031A>G c.(2029-2031)aaA>aaG p.K677K KIF13A_ENST00000259711.6_Silent_p.K677K|KIF13A_ENST00000378816.5_Silent_p.K677K|KIF13A_ENST00000378826.2_Silent_p.K677K|KIF13A_ENST00000378843.2_Silent_p.K677K NM_001105568.2 NP_001099038.1 Q9H1H9 KI13A_HUMAN kinesin family member 13A 677 cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane ATP binding|microtubule motor activity|protein binding breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) GCTCTCGCAGTTTTGCCAGGC 0.458000 3 26 0 0 1 0 0 AKNAD1 254268 broad.mit.edu 37 1 109369904 109369904 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:109369904T>C ENST00000370001.3 - 11 2127 c.1859A>G c.(1858-1860)aAg>aGg p.K620R AKNAD1_ENST00000357393.4_Missense_Mutation_p.K327R|AKNAD1_ENST00000369995.3_Missense_Mutation_p.K620R|AKNAD1_ENST00000369994.1_Missense_Mutation_p.K590R NM_152763.4 NP_689976.2 Q5T1N1 AKND1_HUMAN AKNA domain containing 1 620 breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2) 32 TCCGTGGCCCTTTTTCTCCAC 0.413000 5 231 0 0 1 0 0 ALG9 79796 broad.mit.edu 37 11 111731283 111731283 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:111731283A>G ENST00000398006.2 - 5 947 c.39T>C c.(37-39)ttT>ttC p.F13F ALG9_ENST00000531154.1_Silent_p.F13F|ALG9_ENST00000527228.1_5'UTR|ALG9_ENST00000524880.1_3'UTR NM_001077690.1|NM_001077691.1|NM_001077692.1 NP_001071158.1|NP_001071159.1|NP_001071160.1 Q9H6U8 ALG9_HUMAN ALG9, alpha-1,2-mannosyltransferase 184 dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|intrinsic to endoplasmic reticulum membrane alpha-1,2-mannosyltransferase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587) ATGATGAGCAAAACATGCCAG 0.463000 15 36 0 0 1 0 0 BPI 671 broad.mit.edu 37 20 36952337 36952337 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:36952337C>T ENST00000262865.4 + 8 923 c.834C>T c.(832-834)ccC>ccT p.P278P BPI_ENST00000489102.1_3'UTR|CTD-2308N23.2_ENST00000437016.1_RNA NM_001725.2 NP_001716.2 P17213 BPI_HUMAN bactericidal/permeability-increasing protein 278 defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production extracellular region|integral to plasma membrane lipid binding|lipopolysaccharide binding kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1) 30 Myeloproliferative disorder(115;0.00878) TGGAGTTTCCCGCTGCCCATG 0.537000 4 72 0 0 1 0 0 CCT4 10575 broad.mit.edu 37 2 62096656 62096656 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:62096656A>G ENST00000394440.3 - 13 1820 c.1524T>C c.(1522-1524)gtT>gtC p.V508V CCT4_ENST00000461540.2_5'UTR|AC107081.5_ENST00000425779.1_RNA|CCT4_ENST00000538252.1_Silent_p.V452V|CCT4_ENST00000544079.1_Silent_p.V478V|CCT4_ENST00000544185.1_Silent_p.V358V NM_006430.3 NP_006421.2 P50991 TCPD_HUMAN chaperonin containing TCP1, subunit 4 (delta) 508 'de novo' posttranslational protein folding melanosome|microtubule organizing center|nucleus ATP binding|unfolded protein binding breast(1)|large_intestine(2)|lung(6)|ovary(2) 11 Lung NSC(7;0.035)|all_lung(7;0.0691) LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221) GAGGCTGGACAACCAGTTCCT 0.438000 11 43 0 0 1 0 0 GNB1L 54584 broad.mit.edu 37 22 19776318 19776318 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr22:19776318A>G ENST00000329517.6 - 8 1134 c.898T>C c.(898-900)Tgc>Cgc p.C300R GNB1L_ENST00000460402.1_5'UTR|GNB1L_ENST00000403325.1_Missense_Mutation_p.C300R|GNB1L_ENST00000405009.1_Intron NM_053004.2 NP_443730.1 Q9BYB4 GNB1L_HUMAN guanine nucleotide binding protein (G protein), beta polypeptide 1-like 300 G-protein coupled receptor protein signaling pathway|intracellular signal transduction internal side of plasma membrane|intracellular breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1) 12 Colorectal(54;0.0993) AAGGCCACGCACTGGACAGCG 0.677000 4 61 0 0 1 0 0 MRPL23 6150 broad.mit.edu 37 11 1977618 1977618 + Missense_Mutation SNP C C T rs144125617 byFrequency TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:1977618C>T ENST00000397298.3 + 5 515 c.430C>T c.(430-432)Cgg>Tgg p.R144W MRPL23_ENST00000381514.3_Intron|MRPL23_ENST00000381519.1_Missense_Mutation_p.R144W|MRPL23_ENST00000397297.3_Intron|MRPL23_ENST00000397294.3_Intron NM_021134.3 NP_066957.3 Q16540 RM23_HUMAN mitochondrial ribosomal protein L23 144 translation mitochondrial large ribosomal subunit nucleotide binding|RNA binding|structural constituent of ribosome large_intestine(2)|lung(1)|ovary(1) 4 all_epithelial(84;6.24e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.0026)|Lung(200;0.0171)|LUSC - Lung squamous cell carcinoma(625;0.0842) CGACCCGCGGCGGGGCGGCGT 0.721000 18 46 0 0 1 0 0 DCHS2 54798 broad.mit.edu 37 4 155253915 155253915 + Missense_Mutation SNP C C G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:155253915C>G ENST00000357232.3 - 9 1947 c.1948G>C c.(1948-1950)Gac>Cac p.D650H DCHS2_ENST00000339452.1_Missense_Mutation_p.D1149H NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 650 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) GATTCATAGTCAAACTGTCGC 0.483000 29 100 0 0 1 0 0 HTR2A 3356 broad.mit.edu 37 13 47466612 47466612 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr13:47466612C>T ENST00000378688.4 - 2 657 c.526G>A c.(526-528)Gcc>Acc p.A176T HTR2A_ENST00000542664.1_Missense_Mutation_p.A176T|HTR2A_ENST00000543956.1_Missense_Mutation_p.A92T P28223 5HT2A_HUMAN 5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled 176 ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission integral to plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity p.A176T(1) breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333) GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224) Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) TTCTGGATGGCGACGTAGCGG 0.527000 113 317 0 0 1 0 0 NKPD1 284353 broad.mit.edu 37 19 45655588 45655588 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:45655588T>C ENST00000317951.4 - 4 2106 c.2107A>G c.(2107-2109)Acc>Gcc p.T703A NKPD1_ENST00000429338.1_Intron|NKPD1_ENST00000589776.1_Missense_Mutation_p.T481A|NKPD1_ENST00000438936.2_Missense_Mutation_p.T481A NM_198478.3 NP_940880.3 NTPase, KAP family P-loop domain containing 1 endometrium(1)|lung(4)|prostate(2)|urinary_tract(1) 8 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231) TTGGTCATGGTGTGCAGCTCG 0.716000 7 28 0 0 1 0 0 ALK 238 broad.mit.edu 37 2 29443576 29443576 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:29443576C>T ENST00000389048.3 - 23 4547 c.3641G>A c.(3640-3642)cGc>cAc p.R1214H ALK_ENST00000431873.1_Intron NM_004304.4 NP_004295.2 Q9UM73 ALK_HUMAN anaplastic lymphoma receptor tyrosine kinase 1214 Protein kinase. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9) NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2) 340 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) ACTCACCGGGCGAGGGCGGGT 0.617000 """T, Mis, A""" """NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22""" """ALCL, NSCLC, Neuroblastoma""" neuroblastoma Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 11 44 0 0 1 0 0 PARP4 143 broad.mit.edu 37 13 25073511 25073511 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr13:25073511A>G ENST00000381989.3 - 5 510 c.405T>C c.(403-405)ttT>ttC p.F135F NM_006437.3 NP_006428.2 Q9UKK3 PARP4_HUMAN poly (ADP-ribose) polymerase family, member 4 135 cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195) TCTGCATACCAAACCTGAAAT 0.269000 9 23 0 0 1 0 0 SLIT3 6586 broad.mit.edu 37 5 168093656 168093656 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:168093656G>A ENST00000519560.1 - 36 4794 c.4375C>T c.(4375-4377)Cgc>Tgc p.R1459C CTC-558O2.2_ENST00000520041.1_RNA|SLIT3_ENST00000332966.8_Missense_Mutation_p.R1466C NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 1459 CTCK. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding p.R1459S(2) endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TTCTGGCGGCGGATCACCTCT 0.607000 22 71 0 0 1 0 0 CLCN2 1181 broad.mit.edu 37 3 184072050 184072050 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:184072050G>A ENST00000265593.4 - 15 1731 c.1560C>T c.(1558-1560)atC>atT p.I520I CLCN2_ENST00000344937.7_Silent_p.I503I|CLCN2_ENST00000434054.2_Silent_p.I476I|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000423355.2_3'UTR|CLCN2_ENST00000457512.1_Silent_p.I520I NM_004366.5 NP_004357.3 P51788 CLCN2_HUMAN chloride channel, voltage-sensitive 2 520 chloride channel complex voltage-gated chloride channel activity breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 27 all_cancers(143;6.66e-11)|Ovarian(172;0.0339) Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) Lubiprostone(DB01046) GCTCGAACACGATCACAGCCG 0.627000 OREG0015949 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 33 0 0 1 0 0 ZNF587B 100293516 broad.mit.edu 37 19 58367483 58367483 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:58367483G>A ENST00000316462.4 + 4 672 c.490G>A c.(490-492)Gac>Aac p.D164N ZNF587_ENST00000423137.1_Silent_p.V14V|ZNF814_ENST00000597832.1_Intron|ZNF587_ENST00000419854.1_5'UTR|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597652.1_Intron|ZNF814_ENST00000596604.1_Intron|CTD-2583A14.10_ENST00000598031.1_Silent_p.V15V|ZNF587_ENST00000339656.5_Silent_p.V15V B4DR41 B4DR41_HUMAN zinc finger protein 587B 0 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding AGGGCACTGTGACCTTTGAAG 0.537000 5 215 0 0 1 0 0 GPR115 221393 broad.mit.edu 37 6 47682009 47682009 + Missense_Mutation SNP G G A rs138156132 byFrequency TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:47682009G>A ENST00000283303.2 + 6 1286 c.1028G>A c.(1027-1029)cGc>cAc p.R343H GPR115_ENST00000327753.3_Missense_Mutation_p.R343H|GPR115_ENST00000371220.1_Missense_Mutation_p.R400H NM_153838.3 NP_722580.3 Q8IZF3 GP115_HUMAN G protein-coupled receptor 115 343 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 52 AATAAAACCCGCAATGCCAGA 0.458000 16 88 0 0 1 0 0 SPG20 23111 broad.mit.edu 37 13 36909285 36909285 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr13:36909285A>G ENST00000451493.1 - 2 900 c.683T>C c.(682-684)gTa>gCa p.V228A SPG20_ENST00000355182.4_Missense_Mutation_p.V228A|SPG20_ENST00000495510.1_5'UTR|SPG20_ENST00000438666.2_Missense_Mutation_p.V228A|SPG20_ENST00000494062.2_Missense_Mutation_p.V228A NM_001142295.1 NP_001135767.1 Q8N0X7 SPG20_HUMAN spastic paraplegia 20 (Troyer syndrome) 228 cell death cytoplasm ubiquitin protein ligase binding breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 27 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026) AAAAATCTGTACTCCATTTGG 0.428000 29 95 0 0 1 0 0 ITGA9 3680 broad.mit.edu 37 3 37574875 37574875 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:37574875T>C ENST00000264741.5 + 14 1700 c.1444T>C c.(1444-1446)Tgt>Cgt p.C482R ITGA9_ENST00000422441.1_Missense_Mutation_p.C482R NM_002207.2 NP_002198.2 Q13797 ITA9_HUMAN integrin, alpha 9 482 axon guidance|cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1) 44 KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197) AGCGCCTCAGTGTCACGACGG 0.552000 20 61 0 0 1 0 0 ENPP3 5169 broad.mit.edu 37 6 132068068 132068068 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:132068068A>G ENST00000414305.1 + 26 2928 c.2600A>G c.(2599-2601)tAt>tGt p.Y867C ENPP3_ENST00000358229.5_3'UTR|ENPP3_ENST00000357639.3_Missense_Mutation_p.Y867C O14638 ENPP3_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 3 867 Nuclease. immune response|nucleoside triphosphate catabolic process|phosphate metabolic process extracellular region|integral to plasma membrane|perinuclear region of cytoplasm metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511) CTAAAGACATATTTACCAACA 0.328000 12 38 0 0 1 0 0 RIMKLB 57494 broad.mit.edu 37 12 8866471 8866471 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:8866471T>C ENST00000357529.3 + 3 1271 c.9T>C c.(7-9)agT>agC p.S3S RIMKLB_ENST00000538135.1_Silent_p.S3S|RIMKLB_ENST00000299673.5_3'UTR|RIMKLB_ENST00000535829.1_Silent_p.S3S NM_020734.2 NP_065785.2 Q9ULI2 RIMKB_HUMAN ribosomal modification protein rimK-like family member B 3 protein modification process cytoplasm acid-amino acid ligase activity|ATP binding|metal ion binding central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 AGATGTGTAGTTCTGTGGCTG 0.408000 16 73 0 0 1 0 0 NBPF18P 441908 broad.mit.edu 37 1 151993729 151993729 + RNA SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:151993729G>A ENST00000432386.1 + 0 2564 NR_103561.1 GATGCCTCCCGCTCATTGAAT 0.552000 24 95 0 0 1 0 0 ZNF765 91661 broad.mit.edu 37 19 53905357 53905357 + Missense_Mutation SNP C C G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:53905357C>G ENST00000396408.3 + 3 172 c.55C>G c.(55-57)Cag>Gag p.Q19E ZNF765_ENST00000594030.1_Missense_Mutation_p.Q19E NM_001040185.1 NP_001035275.1 Q7L2R6 ZN765_HUMAN zinc finger protein 765 19 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|lung(3) 4 GBM - Glioblastoma multiforme(134;0.00379) AGAATTCTCTCAGGAGGAGTG 0.448000 35 150 0 0 1 0 0 FLVCR1 28982 broad.mit.edu 37 1 213062505 213062505 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:213062505C>T ENST00000366971.4 + 8 1629 c.1431C>T c.(1429-1431)ttC>ttT p.F477F FLVCR1_ENST00000483790.1_3'UTR NM_014053.3 NP_054772.1 Q9Y5Y0 FLVC1_HUMAN feline leukemia virus subgroup C cellular receptor 1 477 cell death|cellular iron ion homeostasis|heme export|transmembrane transport integral to plasma membrane heme transporter activity|protein binding|receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2) 12 OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11) GAATTTTGTTCACATTGGCTC 0.303000 19 74 0 0 1 0 0 SND1 27044 broad.mit.edu 37 7 127714648 127714648 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:127714648A>G ENST00000354725.3 + 17 2068 c.1874A>G c.(1873-1875)cAc>cGc p.H625R NM_014390.2 NP_055205.2 Q7KZF4 SND1_HUMAN staphylococcal nuclease and tudor domain containing 1 625 TNase-like 4. gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent melanosome|nucleus|RNA-induced silencing complex nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 41 CTGGTGGAGCACGCGCTCTCC 0.602000 4 38 0 0 1 0 0 PIK3C3 5289 broad.mit.edu 37 18 39647368 39647368 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr18:39647368G>A ENST00000262039.4 + 24 2626 c.2540G>A c.(2539-2541)cGc>cAc p.R847H PIK3C3_ENST00000588156.1_Missense_Mutation_p.R71H|PIK3C3_ENST00000587328.1_Missense_Mutation_p.R25H|PIK3C3_ENST00000593098.1_Missense_Mutation_p.R332H|PIK3C3_ENST00000398870.3_Missense_Mutation_p.R784H NM_002647.2 NP_002638.2 Q8NEB9 PK3C3_HUMAN phosphatidylinositol 3-kinase, catalytic subunit type 3 847 PI3K/PI4K. cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway midbody|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1) 49 GATAAATTCCGCTTAGACCTG 0.413000 TSP Lung(28;0.18) 7 54 0 0 1 0 0 DNASE1L2 1775 broad.mit.edu 37 16 2287441 2287441 + Nonsense_Mutation SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:2287441G>T ENST00000564065.1 + 4 1383 c.382G>T c.(382-384)Gag>Tag p.E128* DNASE1L2_ENST00000567494.1_Nonsense_Mutation_p.E128*|DNASE1L2_ENST00000382437.4_Nonsense_Mutation_p.E128*|DNASE1L2_ENST00000320700.5_Nonsense_Mutation_p.E128* Q92874 DNSL2_HUMAN deoxyribonuclease I-like 2 128 DNA catabolic process extracellular region calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters|protein binding endometrium(1)|prostate(1)|skin(2) 4 CTTCAGCCGCGAGCCCTTCGT 0.711000 4 14 3.59834e-05 3.66827e-05 1 1 0 TP53BP1 7158 broad.mit.edu 37 15 43748260 43748260 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:43748260A>G ENST00000263801.3 - 12 2783 c.2531T>C c.(2530-2532)tTa>tCa p.L844S TP53BP1_ENST00000382044.4_Missense_Mutation_p.L849S|TP53BP1_ENST00000382039.3_Missense_Mutation_p.L849S|TP53BP1_ENST00000605155.1_5'UTR|TP53BP1_ENST00000450115.2_Missense_Mutation_p.L849S NM_005657.2 NP_005648.1 Q12888 TP53B_HUMAN tumor protein p53 binding protein 1 844 double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3) 72 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) GTCAAGTCTTAAAGGATCATC 0.423000 Other conserved DNA damage response genes 61 101 0 0 1 0 0 THRA 7067 broad.mit.edu 37 17 38249565 38249565 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:38249565A>G ENST00000264637.4 + 10 1983 c.1403A>G c.(1402-1404)gAc>gGc p.D468G THRA_ENST00000394121.4_Missense_Mutation_p.D468G|NR1D1_ENST00000246672.3_Intron|THRA_ENST00000584985.1_Missense_Mutation_p.D429G NM_003250.5 NP_003241.2 P10827 THA_HUMAN thyroid hormone receptor, alpha 468 negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter cytosol|nucleoplasm protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1) 11 Colorectal(19;0.000442) Myeloproliferative disorder(1115;0.0255) Levothyroxine(DB00451)|Liothyronine(DB00279) AGTGAGGCGGACTCCCCGAGC 0.657000 13 45 0 0 1 0 0 ZFP91 80829 broad.mit.edu 37 11 58384240 58384240 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:58384240A>G ENST00000316059.6 + 10 1325 c.1154A>G c.(1153-1155)cAc>cGc p.H385R ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.H385R NM_001197051.1|NM_053023.4 NP_001183980.1|NP_444251.1 Q96JP5 ZFP91_HUMAN ZFP91 zinc finger protein 385 activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination nucleus nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 26 Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24) AAGAGTTCCCACAATCTGGCA 0.413000 15 69 0 0 1 0 0 FAM189A2 9413 broad.mit.edu 37 9 71986447 71986447 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:71986447T>C ENST00000257515.8 + 3 465 c.45T>C c.(43-45)tgT>tgC p.C15C FAM189A2_ENST00000303068.7_Intron|FAM189A2_ENST00000455972.1_Silent_p.C15C NM_004816.3 NP_004807.3 Q15884 F1892_HUMAN family with sequence similarity 189, member A2 15 integral to membrane endometrium(3)|large_intestine(5)|liver(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 12 CTGTGGTTTGTGTCCTCTTAA 0.448000 9 156 0 0 1 0 0 KIAA1549L 25758 broad.mit.edu 37 11 33565764 33565764 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:33565764A>G ENST00000321505.4 + 1 1944 c.1764A>G c.(1762-1764)acA>acG p.T588T KIAA1549L_ENST00000265654.5_Silent_p.T588T|KIAA1549L_ENST00000389726.3_Silent_p.T588T KIAA1549-like ATGCTTCCACACCATTCCAGA 0.468000 36 123 0 0 1 0 0 FAT1 2195 broad.mit.edu 37 4 187629423 187629423 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:187629423C>T ENST00000441802.2 - 2 1768 c.1559G>A c.(1558-1560)aGt>aAt p.S520N NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 520 Cadherin 4. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 TTCTGACGTACTCACGGCACC 0.517000 HNSCC(5;0.00058) 5 113 0 0 1 0 0 ARID4A 5926 broad.mit.edu 37 14 58831368 58831368 + Missense_Mutation SNP A A C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:58831368A>C ENST00000355431.3 + 20 2934 c.2561A>C c.(2560-2562)aAg>aCg p.K854T ARID4A_ENST00000431317.2_Missense_Mutation_p.K854T|ARID4A_ENST00000348476.3_Missense_Mutation_p.K854T|ARID4A_ENST00000395168.3_Missense_Mutation_p.K854T NM_002892.3 NP_002883.3 P29374 ARI4A_HUMAN AT rich interactive domain 4A (RBP1-like) 854 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter transcriptional repressor complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 AAAGAAAAGAAGTTGAAACGG 0.333000 14 38 0 0 1 0 0 FRMD4A 55691 broad.mit.edu 37 10 13708105 13708105 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:13708105A>G ENST00000357447.2 - 18 1963 c.1595T>C c.(1594-1596)aTc>aCc p.I532T FRMD4A_ENST00000378503.1_Missense_Mutation_p.I532T|FRMD4A_ENST00000358621.4_Missense_Mutation_p.I517T NM_018027.3 NP_060497.3 Q9P2Q2 FRM4A_HUMAN FERM domain containing 4A 532 cytoplasm|cytoskeleton binding breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 41 ACCGTCTATGATCAGCGAAGC 0.592000 32 123 0 0 1 0 0 SYNE2 23224 broad.mit.edu 37 14 64596825 64596825 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:64596825T>C ENST00000357395.3 + 77 14498 c.3354T>C c.(3352-3354)ccT>ccC p.P1118P SYNE2_ENST00000344113.4_Silent_p.P4733P|SYNE2_ENST00000394768.2_Silent_p.P1118P|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000554584.1_Silent_p.P4650P|SYNE2_ENST00000358025.3_Silent_p.P4733P|SYNE2_ENST00000555002.1_Silent_p.P1367P Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 4733 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) TCAGCAGCCCTTTCGTCACTG 0.473000 18 64 0 0 1 0 0 PHKG1 5260 broad.mit.edu 37 7 56148943 56148943 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:56148943C>T ENST00000452681.2 - 11 1213 c.1064G>A c.(1063-1065)cGc>cAc p.R355H PHKG1_ENST00000537360.1_Missense_Mutation_p.R269H|PHKG1_ENST00000297373.2_Missense_Mutation_p.R323H NM_001258459.1 NP_001245388.1 Q16816 PHKG1_HUMAN phosphorylase kinase, gamma 1 (muscle) 323 Calmodulin-binding (domain-C). glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol ATP binding|calmodulin binding|phosphorylase kinase activity endometrium(1)|large_intestine(1)|lung(5) 7 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) CTTCACCCGGCGGTACTGGTA 0.667000 17 31 0 0 1 0 0 C1orf112 55732 broad.mit.edu 37 1 169796951 169796951 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:169796951C>T ENST00000286031.6 + 12 1797 c.1097C>T c.(1096-1098)aCa>aTa p.T366I C1orf112_ENST00000359326.4_Missense_Mutation_p.T366I|C1orf112_ENST00000413811.2_Intron|C1orf112_ENST00000498289.1_3'UTR NM_018186.2 NP_060656.2 Q9NSG2 CA112_HUMAN chromosome 1 open reading frame 112 366 breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1) 34 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) CTGTGGTGCACAGACAGCCAG 0.463000 107 383 0 0 1 0 0 CDCA4 55038 broad.mit.edu 37 14 105478187 105478187 + Missense_Mutation SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:105478187A>T ENST00000336219.3 - 2 235 c.80T>A c.(79-81)gTg>gAg p.V27E CDCA4_ENST00000392590.3_Missense_Mutation_p.V27E NM_017955.3 NP_060425.2 Q9BXL8 CDCA4_HUMAN cell division cycle associated 4 27 nucleus endometrium(1)|large_intestine(2)|lung(2)|ovary(1) 6 all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183) OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227) Epithelial(152;0.142) GTATGAGGACACTGTCTTCAA 0.572000 37 123 0 0 1 0 0 PRKCB 5579 broad.mit.edu 37 16 23847555 23847555 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:23847555T>C ENST00000303531.7 + 1 211 c.59T>C c.(58-60)tTc>tCc p.F20S PRKCB_ENST00000498058.1_Missense_Mutation_p.F20S|PRKCB_ENST00000321728.7_Missense_Mutation_p.F20S NM_002738.6 NP_002729.2 P05771 KPCB_HUMAN protein kinase C, beta 20 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 central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3) 9 Vitamin E(DB00163) ACCGTGCGCTTCGCCCGCAAA 0.701000 16 82 0 0 1 0 0 COL23A1 91522 broad.mit.edu 37 5 177694329 177694329 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:177694329T>C ENST00000390654.3 - 8 858 c.501A>G c.(499-501)gcA>gcG p.A167A COL23A1_ENST00000407622.1_Silent_p.A131A NM_173465.3 NP_775736.2 Q86Y22 CONA1_HUMAN collagen, type XXIII, alpha 1 167 Collagen-like 1.|Gly-rich. collagen|integral to membrane|plasma membrane protein binding breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 19 all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172) AGTCTCCTGGTGCACCCTGGG 0.527000 8 27 0 0 1 0 0 CHST13 166012 broad.mit.edu 37 3 126260867 126260867 + Missense_Mutation SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:126260867G>T ENST00000319340.2 + 3 522 c.472G>T c.(472-474)Gcc>Tcc p.A158S NM_152889.2 NP_690849.1 Q8NET6 CHSTD_HUMAN carbohydrate (chondroitin 4) sulfotransferase 13 158 chondroitin sulfate biosynthetic process Golgi membrane|integral to membrane chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 11 GBM - Glioblastoma multiforme(114;0.151) CTTCAGCCCCGCCGAGATCAA 0.736000 8 14 0.000157383 0.00015972 1 1 0 GPR174 84636 broad.mit.edu 37 X 78426811 78426811 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chrX:78426811T>C ENST00000276077.1 + 1 343 c.307T>C c.(307-309)Tat>Cat p.Y103H NM_032553.1 NP_115942.1 Q9BXC1 GP174_HUMAN G protein-coupled receptor 174 103 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 38 TGTCAACATGTATGCAAGCAT 0.443000 HNSCC(63;0.18) 32 35 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 38976427 38976427 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:38976427A>G ENST00000355481.4 + 34 5263 c.5132A>G c.(5131-5133)tAt>tGt p.Y1711C RYR1_ENST00000360985.3_Missense_Mutation_p.Y1711C|RYR1_ENST00000359596.3_Missense_Mutation_p.Y1711C NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 1711 6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GCAGGCTACTATGACCTCCTC 0.652000 5 137 0 0 1 0 0 MCCC2 64087 broad.mit.edu 37 5 70927998 70927998 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:70927998T>C ENST00000340941.6 + 8 918 c.789T>C c.(787-789)gcT>gcC p.A263A MCCC2_ENST00000509358.2_Silent_p.A263A|MCCC2_ENST00000510895.2_3'UTR|MCCC2_ENST00000323375.8_Silent_p.A225A NM_022132.4 NP_071415.1 Q9HCC0 MCCB_HUMAN methylcrotonoyl-CoA carboxylase 2 (beta) 263 Carboxyltransferase. leucine catabolic process mitochondrial inner membrane|mitochondrial matrix ATP binding|methylcrotonoyl-CoA carboxylase activity endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1) 30 Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;2.04e-54) Biotin(DB00121) TTGGAGGTGCTGATCTTCATT 0.383000 27 85 0 0 1 0 0 VPS33A 65082 broad.mit.edu 37 12 122735613 122735613 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:122735613A>G ENST00000267199.4 - 5 629 c.517T>C c.(517-519)Tac>Cac p.Y173H VPS33A_ENST00000542310.1_5'UTR|RP11-512M8.5_ENST00000535844.1_Intron NM_022916.4 NP_075067.2 Q96AX1 VP33A_HUMAN vacuolar protein sorting 33 homolog A (S. cerevisiae) 173 lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm protein binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2) 28 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23) GCTGCGTGGTACAGGCTCGTC 0.597000 36 60 0 0 1 0 0 BPTF 2186 broad.mit.edu 37 17 65936555 65936555 + Splice_Site SNP G G T rs148259687 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:65936555G>T ENST00000321892.4 + 21 6699 c.6637_splice c.e21-1 p.G2213_splice BPTF_ENST00000577770.1_3'UTR|BPTF_ENST00000424123.3_Splice_Site_p.G2074_splice|BPTF_ENST00000335221.5_Splice_Site_p.G2213_splice|BPTF_ENST00000306378.6_Splice_Site_p.G2087_splice Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 2213 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) GTTTGGGTAGGTGCTCCTCAG 0.448000 9 21 1.76689e-08 1.82224e-08 1 1 0 HSH2D 84941 broad.mit.edu 37 19 16259620 16259620 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:16259620C>T ENST00000593154.2 + 4 591 c.60C>T c.(58-60)caC>caT p.H20H HSH2D_ENST00000588246.1_Silent_p.H20H|HSH2D_ENST00000397372.4_Intron|HSH2D_ENST00000253680.6_Silent_p.H20H NM_032855.2 NP_116244.1 Q96JZ2 HSH2D_HUMAN hematopoietic SH2 domain containing 20 cytoplasm|nucleus central_nervous_system(1)|kidney(1)|large_intestine(2) 4 GGTTTGTGCACACCCAGATGG 0.637000 37 79 0 0 1 0 0 PLCG2 5336 broad.mit.edu 37 16 81929426 81929426 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:81929426G>A ENST00000359376.3 + 13 1301 c.1087G>A c.(1087-1089)Ggg>Agg p.G363R NM_002661.3 NP_002652.2 P16885 PLCG2_HUMAN phospholipase C, gamma 2 (phosphatidylinositol-specific) 363 PI-PLC X-box. intracellular signal transduction|phospholipid catabolic process|platelet activation plasma membrane phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 58 CTGCTGGGACGGGCCCGATGG 0.597000 31 94 0 0 1 0 0 HIF1AN 55662 broad.mit.edu 37 10 102306312 102306312 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:102306312A>G ENST00000299163.5 + 6 968 c.868A>G c.(868-870)Acc>Gcc p.T290A NM_017902.2 NP_060372.2 Q9NWT6 HIF1N_HUMAN hypoxia inducible factor 1, alpha subunit inhibitor 290 Interaction with HIF1A.|Interaction with VHL.|JmjC. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|protein binding NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1) 10 Colorectal(252;0.234) Epithelial(162;6.75e-10)|all cancers(201;4.88e-08) TGGGGGGATTACCATCACTGT 0.428000 49 160 0 0 1 0 0 ARHGAP29 9411 broad.mit.edu 37 1 94674816 94674816 + Missense_Mutation SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:94674816C>A ENST00000260526.6 - 4 613 c.431G>T c.(430-432)gGa>gTa p.G144V ARHGAP29_ENST00000370217.3_Missense_Mutation_p.G144V NM_004815.3 NP_004806.3 Q52LW3 RHG29_HUMAN Rho GTPase activating protein 29 144 Rho protein signal transduction cytosol metal ion binding|Rho GTPase activator activity p.G144E(1) NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 all_lung(203;0.000732)|Lung NSC(277;0.00328) all cancers(265;0.0187)|Epithelial(280;0.159) TTACATATTTCCAAAGGTAAA 0.353000 3 14 0.115264 0.1157 1 1 0 HNRNPC 3183 broad.mit.edu 37 14 21679385 21679385 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:21679385A>G ENST00000430246.2 - 8 3830 c.879T>C c.(877-879)tcT>tcC p.S293S HNRNPC_ENST00000555914.1_Silent_p.S292S|HNRNPC_ENST00000320084.7_Silent_p.S306S|HNRNPC_ENST00000555883.1_Silent_p.S250S|HNRNPC_ENST00000555309.1_Silent_p.S305S|HNRNPC_ENST00000554969.1_Silent_p.S293S|HNRNPC_ENST00000336053.6_3'UTR|HNRNPC_ENST00000554455.1_Silent_p.S306S|HNRNPC_ENST00000553753.1_3'UTR|HNRNPC_ENST00000556628.1_Silent_p.S226S|HNRNPC_ENST00000449098.1_Silent_p.S293S|HNRNPC_ENST00000553300.1_Silent_p.S293S|HNRNPC_ENST00000420743.2_Silent_p.S306S|HNRNPC_ENST00000557201.1_Silent_p.S306S|HNRNPC_ENST00000556897.1_Silent_p.S293S|HNRNPC_ENST00000556513.1_3'UTR|HNRNPC_ENST00000556142.1_3'UTR P07910 HNRPC_HUMAN heterogeneous nuclear ribonucleoprotein C (C1/C2) 306 Asp/Glu-rich (acidic). catalytic step 2 spliceosome|nucleoplasm identical protein binding|nucleotide binding|RNA binding breast(1)|liver(1)|lung(6)|skin(1) 9 all_cancers(95;0.00176) Epithelial(56;1.08e-06)|all cancers(55;8.95e-06) GBM - Glioblastoma multiforme(265;0.00783) TATGTGCTTAAGAGTCATCCT 0.433000 21 146 0 0 1 0 0 AKAP6 9472 broad.mit.edu 37 14 33292165 33292165 + Missense_Mutation SNP G G C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:33292165G>C ENST00000280979.4 + 13 5316 c.5146G>C c.(5146-5148)Gca>Cca p.A1716P AKAP6_ENST00000557272.1_Intron NM_004274.4 NP_004265.3 Q13023 AKAP6_HUMAN A kinase (PRKA) anchor protein 6 1716 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2) 122 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) GGAATCGAATGCATCGTTCAG 0.468000 6 171 0 0 1 0 0 UBR4 23352 broad.mit.edu 37 1 19401333 19401333 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:19401333A>G ENST00000375267.2 - 107 15611 c.15608T>C c.(15607-15609)gTc>gCc p.V5203A UBR4_ENST00000375254.3_Missense_Mutation_p.V5182A|UBR4_ENST00000543981.1_Missense_Mutation_p.V846A|RP5-1126H10.2_ENST00000606379.1_RNA|UBR4_ENST00000375225.3_Missense_Mutation_p.V257A|UBR4_ENST00000375217.2_Missense_Mutation_p.V5175A|UBR4_ENST00000375224.1_Missense_Mutation_p.V889A|UBR4_ENST00000375226.2_Missense_Mutation_p.V5158A|UBR4_ENST00000429347.2_Missense_Mutation_p.V705A Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 5182 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) TGGTCAGGGGACTGAGTTCAA 0.562000 6 28 0 0 1 0 0 CC2D2A 57545 broad.mit.edu 37 4 15569390 15569390 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:15569390G>A ENST00000424120.1 + 26 3633 c.3379G>A c.(3379-3381)Gaa>Aaa p.E1127K CC2D2A_ENST00000413206.1_Missense_Mutation_p.E1127K|CC2D2A_ENST00000503292.1_Missense_Mutation_p.E1127K|CC2D2A_ENST00000389652.5_Missense_Mutation_p.E1078K Q9P2K1 C2D2A_HUMAN coiled-coil and C2 domain containing 2A 1127 C2. cell projection organization cilium|microtubule basal body NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2) 32 CTGGAATGAAGAACTAGAACT 0.388000 5 26 0 0 1 0 0 SGSM2 9905 broad.mit.edu 37 17 2275762 2275762 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:2275762A>G ENST00000268989.3 + 15 1945 c.1768A>G c.(1768-1770)Aag>Gag p.K590E SGSM2_ENST00000426855.2_Missense_Mutation_p.K545E|SGSM2_ENST00000574563.1_Missense_Mutation_p.K545E NM_014853.2 NP_055668.2 O43147 SGSM2_HUMAN small G protein signaling modulator 2 545 Rab-GAP TBC. intracellular Rab GTPase activator activity biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115) CGTGTGGAGCAAGTATCAGAA 0.657000 13 28 0 0 1 0 0 CLDN25 644672 broad.mit.edu 37 11 113650823 113650823 + Silent SNP T T A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:113650823T>A ENST00000453129.2 + 1 355 c.306T>A c.(304-306)tcT>tcA p.S102S NM_001101389.1 NP_001094859.1 C9JDP6 CLD25_HUMAN claudin 25 102 integral to membrane|tight junction structural molecule activity large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2) 10 GCTTTGGGTCTGAATGCTTCC 0.572000 8 382 0 0 1 0 0 CACTIN 58509 broad.mit.edu 37 19 3612066 3612066 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:3612066T>C ENST00000429344.2 - 10 2184 c.2132A>G c.(2131-2133)cAc>cGc p.H711R CACTIN-AS1_ENST00000592274.1_RNA|CACTIN_ENST00000221899.3_Missense_Mutation_p.H643R|CACTIN_ENST00000248420.5_Missense_Mutation_p.H711R NM_001080543.1 NP_001074012.1 cactin, spliceosome C complex subunit CGGCCCCGCGTGGAAGCGCAG 0.612000 5 249 0 0 1 0 0 BAG5 9529 broad.mit.edu 37 14 104027343 104027343 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:104027343T>C ENST00000445922.2 - 2 405 c.159A>G c.(157-159)atA>atG p.I53M BAG5_ENST00000299204.4_Missense_Mutation_p.I53M|RP11-894P9.2_ENST00000556332.1_RNA|BAG5_ENST00000337322.4_Missense_Mutation_p.I94M NM_004873.3 NP_004864.1 Q9UL15 BAG5_HUMAN BCL2-associated athanogene 5 53 BAG 1. apoptosis|negative regulation of protein refolding|negative regulation of ubiquitin-protein ligase activity|neuron death|protein folding|regulation of inclusion body assembly inclusion body|perinuclear region of cytoplasm chaperone binding|ubiquitin protein ligase binding endometrium(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2) 24 Melanoma(154;0.155) Epithelial(46;0.144) CTACAGAGTCTATTTCAAAAA 0.413000 30 91 0 0 1 0 0 FAM120A 23196 broad.mit.edu 37 9 96326712 96326712 + Missense_Mutation SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:96326712A>T ENST00000277165.6 + 18 3441 c.3247A>T c.(3247-3249)Aat>Tat p.N1083Y FAM120A_ENST00000333936.5_Missense_Mutation_p.N1111Y|FAM120A_ENST00000340893.4_Missense_Mutation_p.N1037Y NM_014612.3 NP_055427.2 Q9NZB2 F120A_HUMAN family with sequence similarity 120A 1083 RNA binding. cytoplasm|plasma membrane RNA binding endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 TGCCTTGAATAATGACTCTAA 0.527000 34 114 0 0 1 0 0 KRT37 8688 broad.mit.edu 37 17 39579038 39579038 + Missense_Mutation SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:39579038G>T ENST00000225550.3 - 3 723 c.724C>A c.(724-726)Cac>Aac p.H242N AC003958.2_ENST00000432258.1_RNA NM_003770.4 NP_003761.3 O76014 KRT37_HUMAN keratin 37 242 Coil 1B.|Rod. intermediate filament structural molecule activity p.H242D(1) NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3) 25 Breast(137;0.000496) ACCTGCTCGTGGTTGCTCTTG 0.687000 6 47 3.59834e-05 3.66827e-05 1 1 0 TMEM136 219902 broad.mit.edu 37 11 120201091 120201091 + Missense_Mutation SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:120201091C>A ENST00000375095.2 + 3 846 c.605C>A c.(604-606)gCt>gAt p.A202D TMEM136_ENST00000531346.1_3'UTR|TMEM136_ENST00000529187.1_Intron|TMEM136_ENST00000314475.2_Missense_Mutation_p.A224D NM_001198671.1|NM_001198672.1|NM_001198673.1|NM_001198674.1|NM_001198675.1 NP_001185600.1|NP_001185601.1|NP_001185602.1|NP_001185603.1|NP_001185604.1 Q6ZRR5 TM136_HUMAN transmembrane protein 136 202 TLC. integral to membrane endometrium(1)|lung(2)|ovary(1) 4 Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Hepatocellular(160;0.206)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;5.07e-06) GCGATGTATGCTGTGTCTTGG 0.527000 4 57 0.00909568 0.00915862 1 1 0 PRDM5 11107 broad.mit.edu 37 4 121706189 121706189 + Missense_Mutation SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:121706189G>T ENST00000264808.3 - 11 1486 c.1246C>A c.(1246-1248)Cca>Aca p.P416T PRDM5_ENST00000515109.1_Missense_Mutation_p.P385T|PRDM5_ENST00000428209.2_Missense_Mutation_p.P385T NM_018699.2 NP_061169.2 Q9NQX1 PRDM5_HUMAN PR domain containing 5 416 histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 AAAGAAAATGGGGTCCGGAAC 0.403000 4 80 0.00024832 0.000251724 1 1 0 KIAA1429 25962 broad.mit.edu 37 8 95500996 95500996 + Silent SNP T T G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:95500996T>G ENST00000297591.5 - 24 5452 c.5377A>C c.(5377-5379)Aga>Cga p.R1793R KIAA1429_ENST00000437199.1_3'UTR NM_015496.4 NP_056311.2 Q69YN4 VIR_HUMAN KIAA1429 1793 mRNA processing|RNA splicing nucleus NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) AACTTTCCTCTTGAGCCTCCA 0.488000 67 290 0 0 1 0 0 TTI2 80185 broad.mit.edu 37 8 33361334 33361334 + Silent SNP G G A rs140275385 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:33361334G>A ENST00000431156.2 - 5 1665 c.1047C>T c.(1045-1047)caC>caT p.H349H TTI2_ENST00000520636.1_Silent_p.H318H|TTI2_ENST00000360742.5_Silent_p.H349H|TTI2_ENST00000519356.1_5'UTR NM_001102401.2 NP_001095871.1 Q6NXR4 CH041_HUMAN TELO2 interacting protein 2 349 binding CTGGCTCCATGTGGGTCAGGA 0.522000 16 37 0 0 1 0 0 FAM3C 10447 broad.mit.edu 37 7 120991304 120991304 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:120991304G>A ENST00000359943.3 - 9 700 c.487C>T c.(487-489)Cgg>Tgg p.R163W NM_001040020.1|NM_014888.2 NP_001035109.1|NP_055703.1 Q92520 FAM3C_HUMAN family with sequence similarity 3, member C 163 multicellular organismal development cytoplasmic membrane-bounded vesicle|extracellular region cytokine activity kidney(1)|lung(8) 9 all_neural(327;0.117) GCAATGAGCCGCCGTGCCTCA 0.423000 10 32 0 0 1 0 0 PEX6 5190 broad.mit.edu 37 6 42933788 42933788 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:42933788G>A ENST00000304611.8 - 12 2425 c.2356C>T c.(2356-2358)Cgg>Tgg p.R786W PEX6_ENST00000244546.4_Intron NM_000287.3 NP_000278.3 Q13608 PEX6_HUMAN peroxisomal biogenesis factor 6 786 protein import into peroxisome matrix, translocation|protein stabilization cytosol|peroxisomal membrane ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3) 15 all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562) TCACCTTCCCGCACATTCTCC 0.577000 45 179 0 0 1 0 0 KCNIP4 80333 broad.mit.edu 37 4 20884321 20884321 + Missense_Mutation SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:20884321C>A ENST00000382152.2 - 2 240 c.73G>T c.(73-75)Gct>Tct p.A25S KCNIP4_ENST00000359001.5_Intron|KCNIP4_ENST00000509207.1_Intron|KCNIP4_ENST00000382149.4_Intron|KCNIP4_ENST00000382148.3_Intron|KCNIP4_ENST00000382150.4_Intron|KCNIP4_ENST00000447367.2_Intron NM_025221.5 NP_079497.2 Q6PIL6 KCIP4_HUMAN Kv channel interacting protein 4 25 KIS (By similarity). plasma membrane calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 13 Breast(46;0.134) CTGTTCTGAGCGTACAGGAAA 0.498000 12 32 1.41608e-15 1.48453e-15 1 1 0 RBPMS 11030 broad.mit.edu 37 8 30402247 30402247 + Missense_Mutation SNP T T A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:30402247T>A ENST00000520191.1 + 6 752 c.322T>A c.(322-324)Tcc>Acc p.S108T RBPMS_ENST00000320203.4_Intron|RBPMS_ENST00000339877.4_Intron|RBPMS_ENST00000287771.5_Intron|RBPMS_ENST00000519647.1_Intron|RBPMS_ENST00000538486.1_Intron|RBPMS_ENST00000517860.1_Missense_Mutation_p.S212T|RBPMS_ENST00000520161.1_Intron|RBPMS_ENST00000397323.4_Intron Q93062 RBPMS_HUMAN RNA binding protein with multiple splicing 0 positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent cytoplasm|nucleus nucleotide binding|poly(A) RNA binding|protein binding|transcription coactivator activity autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 13 KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172) AGCTAACAGATCCACCCTCAA 0.488000 18 56 0 0 1 0 0 PCDHB11 56125 broad.mit.edu 37 5 140580935 140580935 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:140580935C>T ENST00000354757.3 + 1 1588 c.1588C>T c.(1588-1590)Cgc>Tgc p.R530C PCDHB11_ENST00000536699.1_Missense_Mutation_p.R165C NM_018931.2 NP_061754.1 Q9Y5F2 PCDBB_HUMAN 530 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTTCGACTTCCGCGTGGGCGC 0.672000 66 183 0 0 1 0 0 TRIM67 440730 broad.mit.edu 37 1 231337181 231337181 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:231337181T>C ENST00000444294.3 + 5 2310 c.1452T>C c.(1450-1452)tcT>tcC p.S484S TRIM67_ENST00000366652.2_Silent_p.S484S|TRIM67_ENST00000366653.5_Silent_p.S484S|TRIM67_ENST00000449018.3_Silent_p.S422S NM_001004342.3 NP_001004342.3 Q6ZTA4 TRI67_HUMAN tripartite motif containing 67 484 COS. cytoplasm|cytoskeleton zinc ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 Breast(184;0.0871) all_cancers(173;0.189)|Prostate(94;0.167) CGAAAGTGTCTGCGGAGTTTG 0.562000 9 26 0 0 1 0 0 CD3EAP 10849 broad.mit.edu 37 19 45912313 45912313 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:45912313A>G ENST00000309424.3 + 3 1575 c.1087A>G c.(1087-1089)Acc>Gcc p.T363A ERCC1_ENST00000423698.2_3'UTR|ERCC1_ENST00000300853.3_3'UTR|CD3EAP_ENST00000589804.1_Missense_Mutation_p.T365A NM_012099.1 NP_036231.1 O15446 RPA34_HUMAN CD3e molecule, epsilon associated protein 363 rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway chromosome|RNA polymerase I transcription factor complex DNA-directed RNA polymerase activity breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1) 11 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0251) CCCAGGGGGGACCATGGCGCC 0.577000 39 87 0 0 1 0 0 SP4 6671 broad.mit.edu 37 7 21521694 21521694 + Missense_Mutation SNP G G C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:21521694G>C ENST00000222584.3 + 5 2278 c.2060G>C c.(2059-2061)aGa>aCa p.R687T NM_003112.3 NP_003103.2 Q02446 SP4_HUMAN Sp4 transcription factor 687 regulation of transcription from RNA polymerase II promoter nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 35 TGTGGCAAAAGATTCACACGG 0.378000 6 152 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135405143 135405143 + Missense_Mutation SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chrX:135405143G>T ENST00000394143.1 + 5 568 c.277G>T c.(277-279)Gca>Tca p.A93S GPR112_ENST00000394141.1_Intron|GPR112_ENST00000412101.1_Intron|GPR112_ENST00000370652.1_Missense_Mutation_p.A93S|GPR112_ENST00000287534.4_Missense_Mutation_p.A30S NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 93 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) CCTTGGACTTGCAGGAGACCA 0.428000 77 72 8.70839e-23 9.20852e-23 1 1 0 ALX4 60529 broad.mit.edu 37 11 44296905 44296905 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:44296905C>T ENST00000329255.3 - 2 873 c.770G>A c.(769-771)cGc>cAc p.R257H NM_021926.3 NP_068745.2 Q9H161 ALX4_HUMAN ALX homeobox 4 257 R -> T (in dbSNP:rs3824915). hair follicle development central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 16 GACCTGCACGCGGGCCTCAGT 0.622000 24 71 0 0 1 0 0 NPR2 4882 broad.mit.edu 37 9 35806427 35806427 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:35806427G>A ENST00000342694.2 + 16 2666 c.2411G>A c.(2410-2412)cGc>cAc p.R804H NM_003995.3 NP_003986.2 P20594 ANPRB_HUMAN natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) 804 intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure integral to membrane|plasma membrane GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 45 all_epithelial(49;0.161) LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194) Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899) CTCCTGCTGCGCATGGAACAG 0.517000 23 63 0 0 1 0 0 CCDC78 124093 broad.mit.edu 37 16 775077 775077 + Splice_Site SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:775077C>T ENST00000293889.6 - 6 666 c.e6+1 NM_001031737.2 NP_001026907.2 A2IDD5 CCD78_HUMAN coiled-coil domain containing 78 central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(2)|skin(3) 9 Hepatocellular(780;0.0218) TGGCCACTCACACACGCGTCA 0.667000 31 111 0 0 1 0 0 OR2M4 26245 broad.mit.edu 37 1 248403002 248403002 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:248403002A>G ENST00000306687.1 + 1 772 c.772A>G c.(772-774)Atg>Gtg p.M258V NM_017504.1 NP_059974.1 Q96R27 OR2M4_HUMAN olfactory receptor, family 2, subfamily M, member 4 258 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2) 50 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) TGCTATGTTCATGTACATGAG 0.522000 20 73 0 0 1 0 0 APBA2 321 broad.mit.edu 37 15 29346241 29346241 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:29346241C>T ENST00000558402.1 + 5 753 c.154C>T c.(154-156)Cgg>Tgg p.R52W APBA2_ENST00000558330.1_Missense_Mutation_p.R52W|APBA2_ENST00000411764.1_Missense_Mutation_p.R52W|APBA2_ENST00000561069.1_Missense_Mutation_p.R52W|APBA2_ENST00000558259.1_Missense_Mutation_p.R52W Q99767 APBA2_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 2 52 nervous system development|protein transport protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1) 59 all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234) all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24) GGCTGCCCTGCGGCCAGAGAG 0.657000 5 106 0 0 1 0 0 S100B 6285 broad.mit.edu 37 21 48019297 48019297 + Missense_Mutation SNP G G C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr21:48019297G>C ENST00000291700.4 - 3 454 c.258C>G c.(256-258)caC>caG p.H86Q S100B_ENST00000367071.4_3'UTR|S100B_ENST00000397648.1_Missense_Mutation_p.H86Q NM_006272.2 NP_006263.1 P04271 S100B_HUMAN S100 calcium binding protein B 86 axonogenesis|cell proliferation|central nervous system development|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade extracellular region|nucleus|perinuclear region of cytoplasm|ruffle calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|RAGE receptor binding|S100 beta binding|tau protein binding|zinc ion binding endometrium(1)|large_intestine(2)|lung(1)|skin(1) 5 Breast(49;0.247) Lung NSC(3;0.245) OV - Ovarian serous cystadenocarcinoma(3;1.84e-06)|Epithelial(3;4.45e-06)|all cancers(3;2.07e-05)|Colorectal(79;0.241) CAAAGAACTCGTGGCAGGCAG 0.473000 4 125 0 0 1 0 0 KCNT1 57582 broad.mit.edu 37 9 138667192 138667192 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:138667192C>T ENST00000298480.5 + 20 2354 c.2280C>T c.(2278-2280)atC>atT p.I760I KCNT1_ENST00000488444.2_Silent_p.I741I|KCNT1_ENST00000263604.3_Silent_p.I741I|KCNT1_ENST00000486577.2_Silent_p.I719I|KCNT1_ENST00000371757.2_Silent_p.I760I|KCNT1_ENST00000487664.1_Silent_p.I715I|KCNT1_ENST00000490355.2_Silent_p.I739I|KCNT1_ENST00000491806.2_Silent_p.I727I B7ZVY4 B7ZVY4_HUMAN potassium channel, subfamily T, member 1 760 membrane binding|calcium-activated potassium channel activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05) CGCCCTACATCGGCAGCTCCC 0.662000 28 72 0 0 1 0 0 SCAF11 9169 broad.mit.edu 37 12 46328280 46328280 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:46328280A>G ENST00000369367.3 - 7 705 c.472T>C c.(472-474)Tta>Cta p.L158L SCAF11_ENST00000549162.1_5'UTR|SCAF11_ENST00000419565.2_Silent_p.L158L NM_004719.2 NP_004710.2 Q99590 SCAFB_HUMAN SR-related CTD-associated factor 11 158 spliceosome assembly nucleus protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 69 TCACTGTATAAAGAGTTTCCT 0.333000 16 56 0 0 1 0 0 TMEM42 131616 broad.mit.edu 37 3 44903590 44903590 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:44903590G>A ENST00000302392.4 + 1 230 c.174G>A c.(172-174)aaG>aaA p.K58K NM_144638.1 NP_653239.1 Q69YG0 TMM42_HUMAN transmembrane protein 42 58 integral to membrane p.K58K(1) central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1) 8 BRCA - Breast invasive adenocarcinoma(193;0.00839)|KIRC - Kidney renal clear cell carcinoma(197;0.0461)|Kidney(197;0.0576) CCTCCGCCAAGCTGGCCTTCG 0.776000 3 8 0 0 1 0 0 PKN3 29941 broad.mit.edu 37 9 131476394 131476394 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:131476394C>T ENST00000291906.4 + 10 1699 c.1306C>T c.(1306-1308)Cgc>Tgc p.R436C NM_013355.3 NP_037487.2 Q6P5Z2 PKN3_HUMAN protein kinase N3 436 signal transduction Golgi apparatus|nucleus|perinuclear region of cytoplasm ATP binding|protein binding|protein kinase C activity breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 24 CTTCTCTAAACGCAGAGGTGT 0.632000 32 135 0 0 1 0 0 SEPT6 23157 broad.mit.edu 37 X 118771104 118771104 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chrX:118771104A>G ENST00000394610.1 - 7 1106 c.842T>C c.(841-843)gTc>gCc p.V281A SEPT6_ENST00000394617.2_Missense_Mutation_p.V311A|SEPT6_ENST00000360156.7_Missense_Mutation_p.V281A|SEPT6_ENST00000354228.4_Missense_Mutation_p.V281A|SEPT6_ENST00000354416.3_Missense_Mutation_p.V281A|SEPT6_ENST00000489216.1_Missense_Mutation_p.V281A|SEPT6_ENST00000343984.5_Missense_Mutation_p.V281A|SEPT6_ENST00000394616.4_Missense_Mutation_p.V223A NM_145799.3 NP_665798.1 Q14141 SEPT6_HUMAN septin 6 281 cell cycle|cytokinesis|interspecies interaction between organisms cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle GTP binding|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3) 17 CTCCATGTTGACCCGAATCAG 0.547000 T MLL AML 28 45 0 0 1 0 0 ENPP5 59084 broad.mit.edu 37 6 46135786 46135786 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:46135786T>C ENST00000371383.2 - 3 474 c.214A>G c.(214-216)Acc>Gcc p.T72A ENPP5_ENST00000230565.3_Missense_Mutation_p.T72A Q9UJA9 ENPP5_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative) 72 extracellular region|integral to membrane hydrolase activity endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1) 12 TTAGGGTAGGTTTTTGTAATA 0.348000 11 39 0 0 1 0 0 TBC1D12 23232 broad.mit.edu 37 10 96291216 96291216 + Splice_Site SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:96291216A>G ENST00000225235.4 + 12 2368 c.2259_splice c.e12+1 p.Q753_splice TBC1D12_ENST00000485048.1_3'UTR NM_015188.1 NP_056003.1 O60347 TBC12_HUMAN TBC1 domain family, member 12 753 intracellular Rab GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2) 20 Colorectal(252;0.0429) AAATGGACTCAGGTAGAGTGA 0.323000 31 102 0 0 1 0 0 KRT23 25984 broad.mit.edu 37 17 39084610 39084610 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:39084610A>G ENST00000209718.3 - 6 1225 c.801T>C c.(799-801)tcT>tcC p.S267S KRT23_ENST00000436344.3_Silent_p.S130S|AC004231.2_ENST00000418393.1_RNA NM_015515.3 NP_056330.3 Q9C075 K1C23_HUMAN keratin 23 (histone deacetylase inducible) 267 Coil 2.|Rod. intermediate filament structural molecule activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 21 Breast(137;0.000301)|Ovarian(249;0.15) ACATGGCTGCAGACTGTGGGA 0.527000 38 120 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105408303 105408303 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:105408303G>A ENST00000333244.5 - 7 13604 c.13485C>T c.(13483-13485)gcC>gcT p.A4495A AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 4495 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TGCTCATGTCGGCCTCCATCT 0.587000 61 218 0 0 1 0 0 SPATA31D1 389763 broad.mit.edu 37 9 84606125 84606125 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:84606125T>C ENST00000344803.2 + 4 787 c.740T>C c.(739-741)cTt>cCt p.L247P NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 CCCTTTCCCCTTCTCCCACCA 0.542000 89 298 0 0 1 0 0 GGT7 2686 broad.mit.edu 37 20 33451197 33451197 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:33451197C>T ENST00000336431.5 - 2 368 c.324G>A c.(322-324)acG>acA p.T108T NM_178026.2 NP_821158.2 Q9UJ14 GGT7_HUMAN gamma-glutamyltransferase 7 108 glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2) 20 TGACGATGACCGTGAGCCCAT 0.672000 13 36 0 0 1 0 0 BRMS1 25855 broad.mit.edu 37 11 66107675 66107675 + Missense_Mutation SNP T T A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:66107675T>A ENST00000359957.3 - 7 705 c.545A>T c.(544-546)gAt>gTt p.D182V BRMS1_ENST00000425825.2_Missense_Mutation_p.D182V NM_015399.3 NP_056214.1 Q9HCU9 BRMS1_HUMAN breast cancer metastasis suppressor 1 182 apoptosis|negative regulation of anti-apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of anoikis|positive regulation of protein deacetylation|transcription, DNA-dependent cytoplasm|nucleus NF-kappaB binding large_intestine(1)|liver(1)|lung(1)|prostate(1)|skin(1) 5 CAGTTTGTCATCCCACCATTC 0.597000 22 50 0 0 1 0 0 CCNE2 9134 broad.mit.edu 37 8 95893861 95893861 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:95893861T>C ENST00000520509.1 - 12 1466 c.1214A>G c.(1213-1215)tAa>tGa p.*405* CCNE2_ENST00000396133.3_3'UTR|INTS8_ENST00000523731.1_3'UTR|CCNE2_ENST00000308108.4_Silent_p.*405* O96020 CCNE2_HUMAN cyclin E2 0 cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity cytosol|nucleoplasm protein kinase binding cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1) 11 Breast(36;8.75e-07) TTATCTTCTTTAGTGTTTTCC 0.403000 26 146 0 0 1 0 0 KRTAP13-1 140258 broad.mit.edu 37 21 31768625 31768625 + Missense_Mutation SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr21:31768625G>T ENST00000355459.2 + 1 234 c.221G>T c.(220-222)aGc>aTc p.S74I NM_181599.2 NP_853630.2 Q8IUC0 KR131_HUMAN keratin associated protein 13-1 74 5 X 10 AA approximate repeats. intermediate filament endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 GTGGAGTCCAGCCCCTGCCAG 0.607000 17 92 5.01169e-05 5.10218e-05 1 1 0 DOCK5 80005 broad.mit.edu 37 8 25198426 25198426 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:25198426T>C ENST00000276440.7 + 23 2405 c.2361T>C c.(2359-2361)ttT>ttC p.F787F NM_024940.6 NP_079216.4 Q9H7D0 DOCK5_HUMAN dedicator of cytokinesis 5 787 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143) UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828) GAGATGAGTTTAATAATTCAA 0.383000 12 36 0 0 1 0 0 SLF2 55719 broad.mit.edu 37 10 102672977 102672977 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:102672977C>T ENST00000238961.3 + 1 258 c.110C>T c.(109-111)gCg>gTg p.A37V FAM178A_ENST00000370269.3_Missense_Mutation_p.A37V|FAM178A_ENST00000370271.3_Missense_Mutation_p.A37V NM_018121.3 NP_060591.3 Q8IX21 F178A_HUMAN family with sequence similarity 178, member A 37 CATGCTGCAGCGGGAAAGAGA 0.687000 5 21 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7702465 7702465 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:7702465T>C ENST00000572933.1 + 56 10064 c.8604T>C c.(8602-8604)ccT>ccC p.P2868P DNAH2_ENST00000389173.2_Silent_p.P2868P Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 2868 AAA 4 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity 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) AGCAGGTGCCTGAGTCATCGG 0.602000 18 65 0 0 1 0 0 WDFY3 23001 broad.mit.edu 37 4 85617976 85617976 + Splice_Site SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:85617976C>T ENST00000322366.6 - 56 8953 c.8545_splice c.e56-1 p.G2849_splice WDFY3_ENST00000295888.4_Splice_Site_p.G2866_splice Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 2866 BEACH. cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) TTGTTTACAGCCTATGCAATT 0.378000 10 42 0 0 1 0 0 SPHK2 56848 broad.mit.edu 37 19 49132517 49132517 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:49132517A>G ENST00000443164.1 + 5 2343 c.1638A>G c.(1636-1638)tcA>tcG p.S546S SPHK2_ENST00000245222.4_Silent_p.S484S|SPHK2_ENST00000598088.1_Silent_p.S484S|SPHK2_ENST00000600537.1_Silent_p.S425S|SPHK2_ENST00000340932.3_Silent_p.S446S|SPHK2_ENST00000599029.1_Silent_p.S448S|SPHK2_ENST00000599748.1_Silent_p.S448S Q9NRA0 SPHK2_HUMAN sphingosine kinase 2 484 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process cytosol|lysosomal membrane|membrane fraction ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 19 all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158) CTCTACACTCACCCGTCTCCG 0.697000 49 167 0 0 1 0 0 MSLNL 401827 broad.mit.edu 37 16 830419 830419 + Missense_Mutation SNP G G T rs113763422 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:830419G>T ENST00000293892.3 - 3 581 c.582C>A c.(580-582)caC>caA p.H194Q MSLNL_ENST00000442466.1_Intron Q96KJ4 MSLNL_HUMAN mesothelin-like 0 cell adhesion integral to membrane breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 36 GCACGTGTAAGTGACAGTGTG 0.592000 6 159 3.59834e-05 3.66827e-05 1 1 0 PBX4 80714 broad.mit.edu 37 19 19681579 19681579 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:19681579T>C ENST00000251203.8 - 3 543 c.257A>G c.(256-258)aAc>aGc p.N86S NM_025245.2 NP_079521.1 Q9BYU1 PBX4_HUMAN pre-B-cell leukemia homeobox 4 86 sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|lung(4)|ovary(1)|prostate(3) 9 CAGCAGCATGTTATCCAGCCT 0.577000 4 94 0 0 1 0 0 LMNB2 84823 broad.mit.edu 37 19 2435009 2435009 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:2435009T>C ENST00000325327.3 - 5 907 c.845A>G c.(844-846)tAc>tGc p.Y282C LMNB2_ENST00000582871.1_Missense_Mutation_p.Y262C Q03252 LMNB2_HUMAN lamin B2 262 Coil 2.|Rod. nuclear inner membrane structural molecule activity NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 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) CTTGGCCTGGTAGGTCTGCTC 0.716000 18 51 0 0 1 0 0 XKR3 150165 broad.mit.edu 37 22 17265161 17265161 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr22:17265161A>G ENST00000331428.5 - 4 830 c.728T>C c.(727-729)tTt>tCt p.F243S NM_175878.3 NP_787074.2 Q5GH77 XKR3_HUMAN XK, Kell blood group complex subunit-related family, member 3 243 integral to membrane|plasma membrane central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) AACCTCCAAAAAACGCCACAT 0.423000 9 50 0 0 1 0 0 KRT82 3888 broad.mit.edu 37 12 52794339 52794339 + Missense_Mutation SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:52794339A>T ENST00000257974.2 - 4 826 c.749T>A c.(748-750)aTc>aAc p.I250N RP3-416H24.4_ENST00000547174.1_RNA NM_033033.3 NP_149022.3 Q9NSB4 KRT82_HUMAN keratin 82 250 Coil 1B.|Rod. keratin filament protein binding|structural constituent of epidermis endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 29 BRCA - Breast invasive adenocarcinoma(357;0.193) CAGGAAGTCGATCTCCTGCAC 0.597000 31 98 0 0 1 0 0 RPP25L 138716 broad.mit.edu 37 9 34611111 34611111 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:34611111G>A ENST00000297613.4 - 2 463 c.183C>T c.(181-183)ggC>ggT p.G61G RPP25L_ENST00000378959.4_Silent_p.G61G NM_148179.2 NP_680545.1 Q8N5L8 CI023_HUMAN ribonuclease P/MRP 25kDa subunit-like 61 nucleic acid binding CTGCAGCCCTGCCAGAACCTG 0.607000 4 102 0 0 1 0 0 HERC2 8924 broad.mit.edu 37 15 28391388 28391388 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:28391388C>T ENST00000261609.7 - 71 11111 c.11003G>A c.(11002-11004)cGg>cAg p.R3668Q NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 3668 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) CTTACCTGACCGCACGGAGAC 0.557000 19 65 0 0 1 0 0 MTRF1L 54516 broad.mit.edu 37 6 153323624 153323624 + Missense_Mutation SNP G G A rs150895723 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:153323624G>A ENST00000367233.5 - 1 196 c.197C>T c.(196-198)gCg>gTg p.A66V MTRF1L_ENST00000464135.1_5'UTR|MTRF1L_ENST00000367230.1_Missense_Mutation_p.A66V|MTRF1L_ENST00000367231.5_Missense_Mutation_p.A66V NM_019041.5 NP_061914.3 Q9UGC7 RF1ML_HUMAN mitochondrial translational release factor 1-like 66 mitochondrion translation release factor activity, codon specific endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1) 10 Ovarian(120;0.125) OV - Ovarian serous cystadenocarcinoma(155;4.24e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0888) TTTGATCACCGCCAGCAACTC 0.657000 12 30 0 0 1 0 0 GPR133 283383 broad.mit.edu 37 12 131593276 131593276 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:131593276G>A ENST00000261654.5 + 18 2454 c.1895G>A c.(1894-1896)tGc>tAc p.C632Y GPR133_ENST00000376682.4_Missense_Mutation_p.C318Y|GPR133_ENST00000535015.1_Missense_Mutation_p.C664Y|GPR133_ENST00000543617.1_Missense_Mutation_p.C151Y NM_198827.3 NP_942122.2 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 632 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 67 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) TAGACCCCCTGCCAAGTGATG 0.572000 148 266 0 0 1 0 0 LRBA 987 broad.mit.edu 37 4 151770123 151770123 + Missense_Mutation SNP G G C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:151770123G>C ENST00000535741.1 - 26 4659 c.4186C>G c.(4186-4188)Caa>Gaa p.Q1396E LRBA_ENST00000357115.3_Missense_Mutation_p.Q1396E|LRBA_ENST00000510413.1_Missense_Mutation_p.Q1396E|LRBA_ENST00000507224.1_Missense_Mutation_p.Q1396E P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and anchor containing 1396 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 all_hematologic(180;0.151) GAAAGGCCTTGAGTAGGTTCA 0.313000 42 111 0 0 1 0 0 TBC1D31 93594 broad.mit.edu 37 8 124156981 124156981 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:124156981T>C ENST00000287380.1 + 20 2950 c.2860T>C c.(2860-2862)Ttc>Ctc p.F954L TBC1D31_ENST00000309336.3_Missense_Mutation_p.F889L|TBC1D31_ENST00000521676.1_Missense_Mutation_p.F831L|TBC1D31_ENST00000378080.2_3'UTR|TBC1D31_ENST00000518805.1_Missense_Mutation_p.F508L|TBC1D31_ENST00000327098.5_Missense_Mutation_p.F858L|TBC1D31_ENST00000522420.1_Missense_Mutation_p.F849L NM_145647.3 NP_663622.2 TBC1 domain family, member 31 AGGAAAAGAGTTCCGTTTGAG 0.353000 9 48 0 0 1 0 0 MORC3 23515 broad.mit.edu 37 21 37742095 37742095 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr21:37742095A>G ENST00000400485.1 + 15 2505 c.2429A>G c.(2428-2430)gAt>gGt p.D810G MORC3_ENST00000487909.1_3'UTR NM_015358.2 NP_056173.1 Q14149 MORC3_HUMAN MORC family CW-type zinc finger 3 810 cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization aggresome|intermediate filament cytoskeleton|PML body ATP binding|zinc ion binding breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 35 AGTGAAATGGATGAGATGGCT 0.393000 63 139 0 0 1 0 0 FAM63B 54629 broad.mit.edu 37 15 59102491 59102491 + Missense_Mutation SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:59102491A>T ENST00000559228.1 + 4 1108 c.1026A>T c.(1024-1026)agA>agT p.R342S FAM63B_ENST00000450403.2_Missense_Mutation_p.R342S Q8NBR6 FA63B_HUMAN family with sequence similarity 63, member B 342 central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 15 TAAATGTAAGATTCACTGGTG 0.378000 26 77 0 0 1 0 0 AP2B1 163 broad.mit.edu 37 17 33954513 33954513 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:33954513A>G ENST00000262325.7 + 8 1601 c.1048A>G c.(1048-1050)Aac>Gac p.N350D AP2B1_ENST00000592545.1_Missense_Mutation_p.N312D|AP2B1_ENST00000538556.1_Missense_Mutation_p.N293D|AP2B1_ENST00000537622.2_Missense_Mutation_p.N350D|AP2B1_ENST00000312678.8_Missense_Mutation_p.N350D|AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000589344.1_Missense_Mutation_p.N350D NM_001282.2 NP_001273.1 P63010 AP2B1_HUMAN adaptor-related protein complex 2, beta 1 subunit 350 axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane clathrin binding|protein transporter activity NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0227) ATCTCAAGCCAACATTGCTCA 0.398000 14 41 0 0 1 0 0 PTCD1 26024 broad.mit.edu 37 7 99023101 99023101 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:99023101T>C ENST00000292478.4 - 6 1304 c.1054A>G c.(1054-1056)Act>Gct p.T352A ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.T401A|PTCD1_ENST00000555673.1_Missense_Mutation_p.T401A NM_015545.3 NP_056360.2 pentatricopeptide repeat domain 1 endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1) 27 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) TGAAGCACAGTCGCCTCCTCC 0.657000 14 53 0 0 1 0 0 SNCAIP 9627 broad.mit.edu 37 5 121759250 121759250 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:121759250A>G ENST00000261367.7 + 6 2387 c.959A>G c.(958-960)aAg>aGg p.K320R SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000504884.2_Intron|SNCAIP_ENST00000503116.2_Missense_Mutation_p.K320R|SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000261368.8_Missense_Mutation_p.K273R|SNCAIP_ENST00000379536.2_Missense_Mutation_p.K273R|SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000379533.2_Missense_Mutation_p.K320R Q9Y6H5 SNCAP_HUMAN synuclein, alpha interacting protein 273 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 39 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) AAAGTTGAGAAGACAACACCA 0.493000 17 46 0 0 1 0 0 REV3L 5980 broad.mit.edu 37 6 111631164 111631164 + Silent SNP C C G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:111631164C>G ENST00000435970.1 - 32 9516 c.8700G>C c.(8698-8700)ctG>ctC p.L2900L REV3L_ENST00000462119.1_5'UTR|RP5-1112D6.8_ENST00000607434.1_RNA|REV3L_ENST00000368805.1_Silent_p.L2978L|REV3L_ENST00000358835.3_Silent_p.L2978L|REV3L_ENST00000368802.3_Silent_p.L2978L O60673 DPOLZ_HUMAN REV3-like, polymerase (DNA directed), zeta, catalytic subunit 2978 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 88 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) CATTCAGTCTCAGAGTTGGGT 0.473000 DNA polymerases (catalytic subunits) 28 84 0 0 1 0 0 LATS2 26524 broad.mit.edu 37 13 21555623 21555623 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr13:21555623C>T ENST00000382592.4 - 6 3052 c.2647G>A c.(2647-2649)Gag>Aag p.E883K LATS2_ENST00000542899.1_Missense_Mutation_p.E883K NM_014572.2 NP_055387.2 Q9NRM7 LATS2_HUMAN large tumor suppressor kinase 2 883 Protein kinase. cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity microtubule organizing center|nucleus|spindle pole ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2) 45 all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104) AGGAGCACCTCGGGTGCGATG 0.622000 12 60 0 0 1 0 0 DAGLA 747 broad.mit.edu 37 11 61502441 61502441 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:61502441G>A ENST00000257215.5 + 10 1211 c.1095G>A c.(1093-1095)gcG>gcA p.A365A NM_006133.2 NP_006124.1 Q9Y4D2 DGLA_HUMAN diacylglycerol lipase, alpha 365 cell death|lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 43 READ - Rectum adenocarcinoma(4;0.219) ACATGACTGCGGTGGACATCG 0.637000 93 355 0 0 1 0 0 TTC3 7267 broad.mit.edu 37 21 38523186 38523186 + Splice_Site SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr21:38523186T>C ENST00000399017.2 + 25 5023 c.e25+2 TTC3_ENST00000354749.2_Splice_Site|TTC3_ENST00000355666.1_Splice_Site|TTC3_ENST00000540756.1_Splice_Site|TTC3_ENST00000479930.1_Splice_Site NM_003316.3 NP_003307.3 P53804 TTC3_HUMAN tetratricopeptide repeat domain 3 protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5) 75 Myeloproliferative disorder(46;0.0412) ATGTTCTAGGTAAGATTTTTA 0.289000 4 48 0 0 1 0 0 DNAJC13 23317 broad.mit.edu 37 3 132202402 132202402 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:132202402T>C ENST00000260818.6 + 28 3411 c.3163T>C c.(3163-3165)Tgt>Cgt p.C1055R NM_015268.3 NP_056083.3 O75165 DJC13_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 13 1055 heat shock protein binding breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1) 34 GATCACAATGTGTGGATATTT 0.398000 32 78 0 0 1 0 0 SARDH 1757 broad.mit.edu 37 9 136594927 136594927 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:136594927T>C ENST00000371872.4 - 6 1132 c.875A>G c.(874-876)cAc>cGc p.H292R SARDH_ENST00000298628.5_Missense_Mutation_p.H292R|SARDH_ENST00000371867.1_Missense_Mutation_p.H203R|SARDH_ENST00000422262.2_Missense_Mutation_p.H124R|SARDH_ENST00000439388.1_Missense_Mutation_p.H292R NM_007101.3 NP_009032.2 Q9UL12 SARDH_HUMAN sarcosine dehydrogenase 292 glycine catabolic process mitochondrial matrix aminomethyltransferase activity|sarcosine dehydrogenase activity central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 44 OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05) ATAGGCATGGTGCATGGCCAC 0.632000 6 116 0 0 1 0 0 USP1 7398 broad.mit.edu 37 1 62916129 62916129 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:62916129A>G ENST00000339950.4 + 9 2650 c.1835A>G c.(1834-1836)aAt>aGt p.N612S USP1_ENST00000371146.1_Missense_Mutation_p.N612S NM_003368.4 NP_003359.3 O94782 UBP1_HUMAN ubiquitin specific peptidase 1 612 DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process nucleoplasm cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1) 19 all_neural(321;0.0281) BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535) GATAAAGGAAATTTTGTGGTT 0.388000 4 91 0 0 1 0 0 MRGPRX1 259249 broad.mit.edu 37 11 18955628 18955628 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:18955628T>C ENST00000302797.3 - 1 928 c.704A>G c.(703-705)cAg>cGg p.Q235R NM_147199.3 NP_671732.3 Q96LB2 MRGX1_HUMAN MAS-related GPR, member X1 235 acute-phase response integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 TAGGAAAAACTGAATGCCAAA 0.478000 7 45 0 0 1 0 0 NUP88 4927 broad.mit.edu 37 17 5312177 5312177 + Missense_Mutation SNP G G C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:5312177G>C ENST00000573584.1 - 5 1242 c.733C>G c.(733-735)Cca>Gca p.P245A NM_002532.4 NP_002523.2 Q99567 NUP88_HUMAN nucleoporin 88kDa 245 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore transporter activity endometrium(4)|kidney(4)|large_intestine(4)|lung(3) 15 GCTGCCAATGGCCCAAAGTCA 0.408000 23 52 0 0 1 0 0 CHPF2 54480 broad.mit.edu 37 7 150931160 150931160 + Silent SNP T T G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:150931160T>G ENST00000035307.2 + 1 1576 c.63T>G c.(61-63)tcT>tcG p.S21S CHPF2_ENST00000495645.1_Intron NM_019015.1 NP_061888.1 Q9P2E5 CHPF2_HUMAN chondroitin polymerizing factor 2 21 Golgi cisterna membrane|integral to membrane N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3) 17 TAGGGCTGTCTCTGGGGTGCA 0.657000 27 75 0 0 1 0 0 CHD1L 9557 broad.mit.edu 37 1 146765320 146765320 + Missense_Mutation SNP A A C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:146765320A>C ENST00000369258.4 + 21 2440 c.2420A>C c.(2419-2421)gAt>gCt p.D807A CHD1L_ENST00000369259.3_Missense_Mutation_p.D603A|CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000361293.5_Missense_Mutation_p.D526A|CHD1L_ENST00000431239.1_Missense_Mutation_p.D713A NM_001256336.1|NM_004284.4|NM_024568.2 NP_001243265.1|NP_004275.4|NP_078844.2 Q86WJ1 CHD1L_HUMAN chromodomain helicase DNA binding protein 1-like 807 Macro. chromatin remodeling|DNA repair cytoplasm|nucleus|plasma membrane ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(923;0.0487) CAGCATCGTGATCGTTCCAAT 0.473000 31 149 0 0 1 0 0 BCL2L13 23786 broad.mit.edu 37 22 18209480 18209480 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr22:18209480A>G ENST00000355028.3 + 5 550 c.424A>G c.(424-426)Acc>Gcc p.T142A BCL2L13_ENST00000317582.5_Missense_Mutation_p.Y213C|BCL2L13_ENST00000538149.1_Missense_Mutation_p.Y89C|BCL2L13_ENST00000337612.5_Missense_Mutation_p.Y51C|BCL2L13_ENST00000418951.2_3'UTR|BCL2L13_ENST00000543133.1_Missense_Mutation_p.Y51C|BCL2L13_ENST00000485631.1_3'UTR NM_001270733.1|NM_001270734.1 NP_001257662.1|NP_001257663.1 Q9BXK5 B2L13_HUMAN BCL2-like 13 (apoptosis facilitator) 357 induction of apoptosis integral to membrane|mitochondrial membrane|nucleus caspase activator activity breast(2)|central_nervous_system(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(3)|urinary_tract(2) 15 all_epithelial(15;0.123) Lung(27;0.199) GAGGAGGAATACCCTGGAATC 0.438000 21 48 0 0 1 0 0 AFAP1 60312 broad.mit.edu 37 4 7780604 7780604 + Splice_Site SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:7780604C>A ENST00000420658.1 - 14 2055 c.e14-1 AFAP1_ENST00000513842.1_Splice_Site|AFAP1_ENST00000360265.4_Splice_Site|AFAP1_ENST00000358461.2_Splice_Site|AFAP1_ENST00000382543.3_Splice_Site NM_001134647.1 NP_001128119.1 Q8N556 AFAP1_HUMAN actin filament associated protein 1 actin cytoskeleton|cytoplasm|focal adhesion actin binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2) 32 TACCCTTGAGCTGTTGAAATA 0.408000 11 116 0.00136819 0.00138229 1 1 0 A2M 2 broad.mit.edu 37 12 9254095 9254095 + Missense_Mutation SNP A A C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:9254095A>C ENST00000318602.7 - 12 1749 c.1442T>G c.(1441-1443)aTt>aGt p.I481S NM_000014.4 NP_000005.2 P01023 A2MG_HUMAN alpha-2-macroglobulin 481 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 77 Bacitracin(DB00626)|Becaplermin(DB00102) TCCATTCAGAATATAATGTGC 0.493000 11 59 0 0 1 0 0 GSX1 219409 broad.mit.edu 37 13 28368040 28368040 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr13:28368040G>A ENST00000302945.2 + 2 798 c.750G>A c.(748-750)ccG>ccA p.P250P NM_145657.1 NP_663632.1 Q9H4S2 GSX1_HUMAN GS homeobox 1 250 positive regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(1)|lung(1)|ovary(1) 4 Lung SC(185;0.0161) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197) CCATGTCTCCGTCCTCCTCAG 0.657000 23 45 0 0 1 0 0 ALLC 55821 broad.mit.edu 37 2 3750034 3750034 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:3750034G>A ENST00000252505.3 + 12 1219 c.1057G>A c.(1057-1059)Gtc>Atc p.V353I ALLC_ENST00000471711.1_3'UTR NM_018436.3 NP_060906.3 Q8N6M5 ALLC_HUMAN allantoicase 372 allantoicase activity breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 30 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088) all_cancers(51;0.24) OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206) GCTCACCATCGTCCCCGACGG 0.597000 HNSCC(21;0.051) 12 33 0 0 1 0 0 QRSL1 55278 broad.mit.edu 37 6 107090875 107090875 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:107090875T>C ENST00000369046.4 + 4 394 c.290T>C c.(289-291)aTa>aCa p.I97T QRSL1_ENST00000369044.1_Missense_Mutation_p.I97T NM_018292.4 NP_060762.3 Q9H0R6 QRSL1_HUMAN glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1 97 translation ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor endometrium(2)|kidney(1)|large_intestine(4)|lung(4) 11 Breast(9;0.0107)|all_epithelial(6;0.14) all_cancers(87;0.00768)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.248) Epithelial(6;0.000334)|all cancers(7;0.00157)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0152) BRCA - Breast invasive adenocarcinoma(108;0.118)|all cancers(137;0.167)|Epithelial(106;0.176) TCAGGTTATATACCACCTTAT 0.318000 13 42 0 0 1 0 0 RAI1 10743 broad.mit.edu 37 17 17699907 17699907 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:17699907T>C ENST00000353383.1 + 3 4114 c.3645T>C c.(3643-3645)tcT>tcC p.S1215S RAI1_ENST00000261641.6_Silent_p.S1215S NM_030665.3 NP_109590.3 Q7Z5J4 RAI1_HUMAN retinoic acid induced 1 1215 cytoplasm|nucleus zinc ion binding breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7) 48 READ - Rectum adenocarcinoma(1115;0.0276) GCAAGCTCTCTGACCGGCCCC 0.652000 22 77 0 0 1 0 0 SMARCA4 6597 broad.mit.edu 37 19 11107214 11107214 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:11107214T>C ENST00000358026.2 + 11 2090 c.1806T>C c.(1804-1806)gaT>gaC p.D602D SMARCA4_ENST00000541122.2_Silent_p.D602D|SMARCA4_ENST00000344626.4_Silent_p.D602D|SMARCA4_ENST00000450717.3_Silent_p.D602D|SMARCA4_ENST00000590574.1_Silent_p.D602D|SMARCA4_ENST00000589677.1_Silent_p.D602D|SMARCA4_ENST00000444061.3_Silent_p.D602D|SMARCA4_ENST00000413806.3_Silent_p.D602D|SMARCA4_ENST00000429416.3_Silent_p.D602D NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 602 chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) TTGGGCCGGATGGCGAGGTGA 0.507000 """F, N, Mis""" NSCLC 30 117 0 0 1 0 0 MYH6 4624 broad.mit.edu 37 14 23862231 23862231 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:23862231G>A ENST00000405093.3 - 24 3211 c.3141C>T c.(3139-3141)cgC>cgT p.R1047R MYH6_ENST00000356287.3_Silent_p.R1047R NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 1047 adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) CCAGGTCCATGCGCACCTTCT 0.493000 29 80 0 0 1 0 0 ERN2 10595 broad.mit.edu 37 16 23702298 23702298 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:23702298C>T ENST00000256797.4 - 22 2947 c.2779G>A c.(2779-2781)Gtc>Atc p.V927I ERN2_ENST00000457008.2_Missense_Mutation_p.V827I NM_033266.3 NP_150296.3 Q76MJ5 ERN2_HUMAN endoplasmic reticulum to nucleus signaling 2 879 apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|ovary(2) 6 GBM - Glioblastoma multiforme(48;0.0156) AAGTACTGGACGAAGCCATCA 0.617000 5 96 0 0 1 0 0 HRNR 388697 broad.mit.edu 37 1 152188533 152188533 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:152188533T>C ENST00000368801.2 - 3 5647 c.5572A>G c.(5572-5574)Agt>Ggt p.S1858G FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 1858 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGTCGGCCACTGCTGGAAGAC 0.592000 71 1876 0 0 1 0 0 HADH 3033 broad.mit.edu 37 4 108935639 108935639 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:108935639A>G ENST00000505878.1 + 4 599 c.326A>G c.(325-327)gAt>gGt p.D109G HADH_ENST00000403312.1_Missense_Mutation_p.D164G|HADH_ENST00000309522.3_Missense_Mutation_p.D105G|HADH_ENST00000603302.1_Missense_Mutation_p.D105G|HADH_ENST00000454409.2_Missense_Mutation_p.D109G Q16836 HCDH_HUMAN hydroxyacyl-CoA dehydrogenase 105 fatty acid beta-oxidation mitochondrial matrix 3-hydroxyacyl-CoA dehydrogenase activity|NAD+ binding endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 15 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000168) NADH(DB00157) ACCAGCACGGATGCAGCCTCC 0.527000 41 143 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196788388 196788388 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:196788388T>C ENST00000312428.6 - 23 3856 c.3756A>G c.(3754-3756)tcA>tcG p.S1252S NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 1252 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 TTTTTACAAGTGATGAGAGGA 0.408000 10 64 0 0 1 0 0 PBK 55872 broad.mit.edu 37 8 27668686 27668686 + Splice_Site SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:27668686T>C ENST00000522944.1 - 7 988 c.e7-2 PBK_ENST00000301905.4_Intron|ESCO2_ENST00000397418.2_Intron Q96KB5 TOPK_HUMAN PDZ binding kinase mitosis ATP binding|protein binding|protein serine/threonine kinase activity endometrium(1)|large_intestine(2)|lung(1) 4 Ovarian(32;0.000953) UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|KIRC - Kidney renal clear cell carcinoma(542;0.101)|Kidney(114;0.121)|Colorectal(74;0.141) AGGCAGGAGctacaaatcacg 0.443000 9 36 0 0 1 0 0 SDK2 54549 broad.mit.edu 37 17 71348618 71348618 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:71348618C>T ENST00000392650.3 - 41 5752 c.5752G>A c.(5752-5754)Gtg>Atg p.V1918M SDK2_ENST00000410094.1_5'UTR|SDK2_ENST00000388726.3_Missense_Mutation_p.V1899M NM_001144952.1 NP_001138424.1 Q58EX2 SDK2_HUMAN sidekick cell adhesion molecule 2 1918 Fibronectin type-III 13. cell adhesion integral to membrane breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 GTACCTGGCACAGACTGGGAG 0.667000 7 22 0 0 1 0 0 TNPO1 3842 broad.mit.edu 37 5 72192975 72192975 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:72192975A>G ENST00000337273.5 + 20 2761 c.2335A>G c.(2335-2337)Aca>Gca p.T779A TNPO1_ENST00000523768.1_Missense_Mutation_p.T729A|TNPO1_ENST00000454282.1_Missense_Mutation_p.T729A|TNPO1_ENST00000506351.2_Missense_Mutation_p.T771A NM_002270.3 NP_002261.3 Q92973 TNPO1_HUMAN transportin 1 779 interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation cytosol|nucleus nuclear localization sequence binding|protein binding|protein transporter activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 36 Lung NSC(167;0.0053)|Ovarian(174;0.0175) OV - Ovarian serous cystadenocarcinoma(47;6.14e-54) GTTAGAGAATACAGGTACCAT 0.358000 8 63 0 0 1 0 0 SUV420H2 84787 broad.mit.edu 37 19 55854170 55854170 + Missense_Mutation SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:55854170C>A ENST00000255613.3 + 4 585 c.337C>A c.(337-339)Cgc>Agc p.R113S AC020922.1_ENST00000539076.1_Intron|SUV420H2_ENST00000402499.4_Intron NM_032701.3 NP_116090.2 Q86Y97 SV422_HUMAN suppressor of variegation 4-20 homolog 2 (Drosophila) 113 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2) 4 Breast(117;0.191) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.044) GCCCTGCACGCGCTACTCCAT 0.622000 4 75 1 1 1 1 0 PCDHA1 56147 broad.mit.edu 37 5 140166235 140166235 + Missense_Mutation SNP G G C rs138016369 byFrequency TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:140166235G>C ENST00000504120.2 + 1 360 c.360G>C c.(358-360)gaG>gaC p.E120D PCDHA1_ENST00000378133.3_Missense_Mutation_p.E120D|PCDHA1_ENST00000394633.3_Missense_Mutation_p.E120D NM_018900.2 NP_061723.1 breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3) 70 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCATGTGGAGGTGAAGGTGA 0.512000 37 137 0 0 1 0 0 MAT2A 4144 broad.mit.edu 37 2 85769463 85769463 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:85769463G>A ENST00000306434.3 + 6 858 c.735G>A c.(733-735)caG>caA p.Q245Q MAT2A_ENST00000409017.1_Silent_p.Q182Q NM_005911.5 NP_005902.1 P31153 METK2_HUMAN methionine adenosyltransferase II, alpha 245 methylation|xenobiotic metabolic process cytosol ATP binding|metal ion binding|methionine adenosyltransferase activity breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 9 L-Methionine(DB00134)|S-Adenosylmethionine(DB00118) ACCACCTACAGCCAAGTGGCA 0.393000 11 49 0 0 1 0 0 C2CD5 9847 broad.mit.edu 37 12 22625244 22625244 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:22625244T>C ENST00000333957.4 - 18 2400 c.2145A>G c.(2143-2145)atA>atG p.I715M C2CD5_ENST00000396028.2_Missense_Mutation_p.I706M|C2CD5_ENST00000446597.1_Missense_Mutation_p.I715M|C2CD5_ENST00000544930.1_Missense_Mutation_p.I530M|C2CD5_ENST00000545552.1_Missense_Mutation_p.I728M|C2CD5_ENST00000542676.1_Missense_Mutation_p.I715M|C2CD5_ENST00000536386.1_Missense_Mutation_p.I717M NM_014802.1 NP_055617.1 C2 calcium-dependent domain containing 5 TCCAATTATTTATACCGGGCA 0.239000 6 12 0 0 1 0 0 ZSCAN18 65982 broad.mit.edu 37 19 58596148 58596148 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:58596148C>T ENST00000240727.6 - 7 1836 c.1437G>A c.(1435-1437)ccG>ccA p.P479P ZSCAN18_ENST00000600404.1_Silent_p.P535P|ZSCAN18_ENST00000601144.1_Silent_p.P479P|ZSCAN18_ENST00000421612.2_Silent_p.P343P NM_023926.4 NP_076415.3 Q8TBC5 ZSC18_HUMAN zinc finger and SCAN domain containing 18 479 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3) 19 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) CGCGGGTGGACGGTTGGGGGC 0.726000 6 15 0 0 1 0 0 SLC4A9 83697 broad.mit.edu 37 5 139752342 139752342 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:139752342T>C ENST00000230993.6 + 21 2946 c.2911T>C c.(2911-2913)Tat>Cat p.Y971H SLC4A9_ENST00000432095.2_Missense_Mutation_p.Y933H|CTC-329D1.2_ENST00000507521.1_RNA|SLC4A9_ENST00000507527.1_Missense_Mutation_p.Y971H|SLC4A9_ENST00000506757.2_Missense_Mutation_p.Y947H|SLC4A9_ENST00000506545.1_Missense_Mutation_p.Y884H NM_001258428.1 NP_001245357.1 Q96Q91 B3A4_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 9 971 Membrane (anion exchange). integral to membrane|plasma membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGAGCTGATGTATCAGCCAAA 0.463000 OREG0016847 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 5 0 0 1 0 0 RRAGC 64121 broad.mit.edu 37 1 39322560 39322560 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:39322560A>G ENST00000373001.3 - 2 608 c.432T>C c.(430-432)atT>atC p.I144I NM_022157.2 NP_071440.1 Q9HB90 RRAGC_HUMAN Ras-related GTP binding C 144 apoptosis|cell growth|cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|RNA splicing|small GTPase mediated signal transduction|transcription, DNA-dependent lysosome|nucleus GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein heterodimerization activity endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1) 10 Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) CCTGTGCGTCAATGACGTATA 0.403000 36 83 0 0 1 0 0 NR1H4 9971 broad.mit.edu 37 12 100955744 100955744 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:100955744C>T ENST00000548884.1 + 10 1689 c.1148C>T c.(1147-1149)gCt>gTt p.A383V NR1H4_ENST00000549996.1_Missense_Mutation_p.A336V|NR1H4_ENST00000188403.7_Missense_Mutation_p.A393V|NR1H4_ENST00000551379.1_Missense_Mutation_p.A397V|NR1H4_ENST00000392986.3_Missense_Mutation_p.A387V NM_001206977.1|NM_001206979.1|NM_005123.3 NP_001193906.1|NP_001193908.1|NP_005114.1 Q96RI1 NR1H4_HUMAN nuclear receptor subfamily 1, group H, member 4 397 Ligand-binding. bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 44 GAGGAGTATGCTCTGCTTACA 0.323000 4 81 0 0 1 0 0 CHRNG 1146 broad.mit.edu 37 2 233404727 233404727 + Missense_Mutation SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:233404727G>T ENST00000389494.3 + 2 102 c.81G>T c.(79-81)gaG>gaT p.E27D CHRNG_ENST00000389492.3_Missense_Mutation_p.E27D NM_005199.4 NP_005190.4 P07510 ACHG_HUMAN cholinergic receptor, nicotinic, gamma (muscle) 27 muscle contraction cell junction|postsynaptic membrane acetylcholine receptor activity breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1) 22 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086) ACCAGGAGGAGCGCCTGCTCG 0.632000 17 51 1.67942e-08 1.73241e-08 1 1 0 TAF10 6881 broad.mit.edu 37 11 6632999 6632999 + Missense_Mutation SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:6632999C>A ENST00000299424.4 - 2 760 c.283G>T c.(283-285)Ggg>Tgg p.G95W TAF10_ENST00000531760.1_5'UTR NM_006284.3 NP_006275.1 Q12962 TAF10_HUMAN TAF10 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 30kDa 95 histone deubiquitination|histone H3 acetylation|protein homooligomerization|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction PCAF complex|perinuclear region of cytoplasm|STAGA complex|transcription factor TFIID complex|transcription factor TFTC complex estrogen receptor binding|RNA polymerase binding|transcription coactivator activity Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.0481) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.129) ACGTAAACCCCGTTAGATATG 0.647000 8 23 5.18039e-06 5.29904e-06 1 1 0 LUZP1 7798 broad.mit.edu 37 1 23419686 23419686 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:23419686C>T ENST00000302291.4 - 4 1870 c.1069G>A c.(1069-1071)Gag>Aag p.E357K LUZP1_ENST00000374623.3_Missense_Mutation_p.E357K|LUZP1_ENST00000418342.1_Missense_Mutation_p.E357K|LUZP1_ENST00000314174.5_Missense_Mutation_p.E357K Q86V48 LUZP1_HUMAN leucine zipper protein 1 357 nucleus NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2) 31 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199) CCTTCTACCTCTCCATTTTCT 0.418000 29 58 0 0 1 0 0 STK33 65975 broad.mit.edu 37 11 8479020 8479020 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:8479020A>G ENST00000447869.1 - 5 1483 c.565T>C c.(565-567)Tac>Cac p.Y189H STK33_ENST00000396672.1_Missense_Mutation_p.Y189H|STK33_ENST00000534493.1_Missense_Mutation_p.Y148H|STK33_ENST00000396673.1_Missense_Mutation_p.Y189H|STK33_ENST00000315204.1_Missense_Mutation_p.Y189H|STK33_ENST00000358872.3_Missense_Mutation_p.Y2H Q9BYT3 STK33_HUMAN serine/threonine kinase 33 189 Protein kinase. Golgi apparatus|nucleus|perinuclear region of cytoplasm ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3) 23 Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239) ATCACAAGGTACATTTTCTGA 0.338000 16 41 0 0 1 0 0 PPFIA1 8500 broad.mit.edu 37 11 70224303 70224303 + Splice_Site SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:70224303T>C ENST00000253925.7 + 26 3765 c.e26+2 PPFIA1_ENST00000389547.3_Silent_p.G1184G|AP000487.5_ENST00000530690.1_RNA|AP000487.5_ENST00000500185.2_RNA|PPFIA1_ENST00000530548.1_Splice_Site NM_003626.3 NP_003617.1 Q13136 LIPA1_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 cell-matrix adhesion cytoplasm protein binding|signal transducer activity breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 65 BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513) AGATGGACGGTATGTGATGGG 0.463000 21 71 0 0 1 0 0 MYO1D 4642 broad.mit.edu 37 17 30821922 30821922 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:30821922T>C ENST00000318217.5 - 22 3180 c.2876A>G c.(2875-2877)cAc>cGc p.H959R MYO1D_ENST00000394649.4_Missense_Mutation_p.H871R NM_015194.1 NP_056009.1 O94832 MYO1D_HUMAN myosin ID 959 myosin complex actin binding|ATP binding|calmodulin binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 BRCA - Breast invasive adenocarcinoma(9;0.0362) CACTTGAAGGTGGCGCTTCTC 0.622000 17 73 0 0 1 0 0 PCDHGB7 56099 broad.mit.edu 37 5 140799272 140799272 + Missense_Mutation SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:140799272C>A ENST00000398594.2 + 1 1846 c.1846C>A c.(1846-1848)Ctc>Atc p.L616I PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron NM_018927.3 NP_061750.1 central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3) 56 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGAGCCCGGGCTCTTCAGCCT 0.662000 44 124 2.13384e-23 2.25745e-23 1 1 0 NLRP12 91662 broad.mit.edu 37 19 54308536 54308536 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:54308536A>G ENST00000324134.6 - 5 2580 c.2412T>C c.(2410-2412)atT>atC p.I804I NLRP12_ENST00000354278.3_Silent_p.I804I|NLRP12_ENST00000351894.4_Silent_p.I804I|NLRP12_ENST00000345770.5_Silent_p.I805I|NLRP12_ENST00000391772.1_Silent_p.I805I|NLRP12_ENST00000391773.1_Silent_p.I805I|NLRP12_ENST00000535162.1_Silent_p.I804I|NLRP12_ENST00000391775.3_Silent_p.I804I NM_001277126.1|NM_144687.2 NP_001264055.1|NP_653288.1 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 804 negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 80 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) AGACTCACTGAATCATCTGCA 0.507000 24 99 0 0 1 0 0 ZNF70 7621 broad.mit.edu 37 22 24086066 24086066 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr22:24086066C>T ENST00000341976.3 - 2 1722 c.1262G>A c.(1261-1263)tGc>tAc p.C421Y NM_021916.2 NP_068735.1 Q9UC06 ZNF70_HUMAN zinc finger protein 70 421 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1) 21 GCACAGATTGCACACGTAGGG 0.557000 5 232 0 0 1 0 0 ANXA2R 389289 broad.mit.edu 37 5 43039613 43039613 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:43039613A>G ENST00000314890.3 - 2 1955 c.536T>C c.(535-537)gTa>gCa p.V179A NM_001014279.2 NP_001014301.1 Q3ZCQ2 AX2R_HUMAN annexin A2 receptor 179 receptor activity CGCCCAGAGTACAGAGAACGC 0.557000 OREG0016598 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 131 0 0 1 0 0 TCEA1 6917 broad.mit.edu 37 8 54883013 54883013 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:54883013C>T ENST00000521604.2 - 9 1239 c.836G>A c.(835-837)cGt>cAt p.R279H TCEA1_ENST00000521086.2_5'UTR|TCEA1_ENST00000522635.1_Missense_Mutation_p.R95H|TCEA1_ENST00000396401.3_Missense_Mutation_p.R258H NM_006756.2 NP_006747.1 P23193 TCEA1_HUMAN transcription elongation factor A (SII), 1 279 positive regulation of viral transcription|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction nucleoplasm DNA binding|translation elongation factor activity|zinc ion binding breast(1)|large_intestine(1)|lung(1)|skin(1) 4 Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181) OV - Ovarian serous cystadenocarcinoma(7;9.1e-07)|Epithelial(17;9.44e-05)|all cancers(17;0.000699) ATCAGCACTACGGGTTTGTAC 0.303000 T PLAG1 salivary adenoma 11 16 0 0 1 0 0 LRRK1 79705 broad.mit.edu 37 15 101523854 101523854 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:101523854C>T ENST00000284395.5 + 4 702 c.302C>T c.(301-303)gCg>gTg p.A101V LRRK1_ENST00000388948.3_Missense_Mutation_p.A128V|LRRK1_ENST00000532029.2_Missense_Mutation_p.A128V Q38SD2 LRRK1_HUMAN leucine-rich repeat kinase 1 128 small GTPase mediated signal transduction mitochondrion ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1) 72 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) GTGGTGGCAGCGTATTTTGGA 0.567000 15 76 0 0 1 0 0 OR4X1 390113 broad.mit.edu 37 11 48286062 48286062 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:48286062T>C ENST00000320048.1 + 1 650 c.650T>C c.(649-651)cTg>cCg p.L217P NM_001004726.1 NP_001004726.1 Q8NH49 OR4X1_HUMAN olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene) 217 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1) 28 GCTTCCTACCTGATCATCCTG 0.542000 4 84 0 0 1 0 0 PAOX 196743 broad.mit.edu 37 10 135202471 135202471 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:135202471T>C ENST00000278060.5 + 5 1216 c.1133T>C c.(1132-1134)gTt>gCt p.V378A PAOX_ENST00000368539.4_3'UTR|PAOX_ENST00000480071.2_Missense_Mutation_p.F294L|PAOX_ENST00000368535.2_3'UTR|PAOX_ENST00000357296.3_Missense_Mutation_p.V378A NM_152911.2 NP_690875.1 Q6QHF9 PAOX_HUMAN polyamine oxidase (exo-N4-amino) 516 polyamine biosynthetic process|xenobiotic metabolic process peroxisomal matrix polyamine oxidase activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2) 23 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06) TCTGTCCACGTTCTCTGTGGG 0.537000 29 543 0 0 1 0 0 FBN2 2201 broad.mit.edu 37 5 127681179 127681179 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:127681179G>A ENST00000508053.1 - 30 4061 c.3087C>T c.(3085-3087)gtC>gtT p.V1029V FBN2_ENST00000508989.1_Silent_p.V996V|FBN2_ENST00000262464.4_Silent_p.V1029V P35556 FBN2_HUMAN fibrillin 2 1029 TB 5. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) AAGCCGCCCCGACAGCACAGC 0.592000 51 144 0 0 1 0 0 MEFV 4210 broad.mit.edu 37 16 3294277 3294277 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:3294277C>T ENST00000219596.1 - 8 1775 c.1736G>A c.(1735-1737)cGt>cAt p.R579H MEFV_ENST00000536379.1_Missense_Mutation_p.R368H|MEFV_ENST00000339854.4_Missense_Mutation_p.R399H|MEFV_ENST00000541159.1_Missense_Mutation_p.R368H NM_000243.2 NP_000234.1 O15553 MEFV_HUMAN Mediterranean fever 579 inflammatory response cytoplasm|microtubule|microtubule associated complex|nucleus actin binding|zinc ion binding p.R579H(1) NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6) 50 Colchicine(DB01394) CATTTCTGAACGCAGGGTTTC 0.532000 14 32 0 0 1 0 0 HRH2 3274 broad.mit.edu 37 5 175110376 175110376 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:175110376G>A ENST00000231683.2 + 1 1913 c.140G>A c.(139-141)cGc>cAc p.R47H HRH2_ENST00000377291.2_Missense_Mutation_p.R47H NM_022304.2 NP_071640.1 P25021 HRH2_HUMAN histamine receptor H2 47 G-protein signaling, coupled to cyclic nucleotide second messenger|immune response integral to plasma membrane histamine receptor activity breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1) 22 all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711) Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149) Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863) GGCTTGAACCGCCGGCTCCGC 0.587000 65 112 0 0 1 0 0 ADAM28 10863 broad.mit.edu 37 8 24193018 24193018 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:24193018G>A ENST00000265769.4 + 14 1541 c.1431G>A c.(1429-1431)atG>atA p.M477I RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000397649.3_Missense_Mutation_p.M224I|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000437154.2_Missense_Mutation_p.M477I|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000540823.1_Missense_Mutation_p.M244I NM_014265.4 NP_055080.2 Q9UKQ2 ADA28_HUMAN ADAM metallopeptidase domain 28 477 Disintegrin. proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) TGCCTGAAATGTGTAATGGTA 0.453000 10 44 0 0 1 0 0 PCDHB7 56129 broad.mit.edu 37 5 140554771 140554771 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:140554771C>T ENST00000231137.3 + 1 2529 c.2355C>T c.(2353-2355)cgC>cgT p.R785R NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 785 calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AAGAAAATCGCCCATTTCAGA 0.448000 12 413 0 0 1 0 0 ZNF684 127396 broad.mit.edu 37 1 41012511 41012511 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:41012511T>C ENST00000372699.3 + 5 767 c.516T>C c.(514-516)ttT>ttC p.F172F ZNF684_ENST00000493756.1_3'UTR NM_152373.3 NP_689586.3 Q5T5D7 ZN684_HUMAN zinc finger protein 684 172 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|kidney(2)|lung(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 13 Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;5.42e-18) AAAAGAAGTTTCATTTCATTA 0.348000 18 50 0 0 1 0 0 SLMO2 51012 broad.mit.edu 37 20 57613590 57613590 + Missense_Mutation SNP A A C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:57613590A>C ENST00000355937.4 - 2 310 c.132T>G c.(130-132)gaT>gaG p.D44E SLMO2_ENST00000371033.5_Missense_Mutation_p.D44E NM_016045.2 NP_057129.2 Q9Y3B1 SLMO2_HUMAN slowmo homolog 2 (Drosophila) 44 PRELI/MSF1. endometrium(1)|lung(2)|skin(2) 5 all_lung(29;0.00711) Colorectal(105;0.109) TTCCAGAGGGATCTATATGTC 0.483000 14 175 0 0 1 0 0 MISP 126353 broad.mit.edu 37 19 757839 757839 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:757839G>A ENST00000215582.6 + 2 996 c.893G>A c.(892-894)cGt>cAt p.R298H NM_173481.2 NP_775752.1 mitotic spindle positioning CGGGAGATCCGTCTGGCTCAG 0.672000 27 79 0 0 1 0 0 NOSTRIN 115677 broad.mit.edu 37 2 169718498 169718498 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:169718498A>G ENST00000444448.2 + 18 1970 c.1494A>G c.(1492-1494)agA>agG p.R498R NOSTRIN_ENST00000397206.2_Silent_p.R363R|NOSTRIN_ENST00000397209.2_Silent_p.R413R|NOSTRIN_ENST00000317647.7_Silent_p.R441R|NOSTRIN_ENST00000445023.2_Silent_p.R363R|NOSTRIN_ENST00000421711.2_Silent_p.R413R|NOSTRIN_ENST00000458381.2_Silent_p.R498R Q8IVI9 NOSTN_HUMAN nitric oxide synthase trafficking 441 endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane protein binding kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 9 TCAGCAGCAGACTTTGCAAGG 0.408000 9 97 0 0 1 0 0 PEBP4 157310 broad.mit.edu 37 8 22785223 22785223 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:22785223C>T ENST00000256404.6 - 2 96 c.5G>A c.(4-6)gGt>gAt p.G2D PEBP4_ENST00000521284.1_5'UTR NM_144962.2 NP_659399.2 Q96S96 PEBP4_HUMAN phosphatidylethanolamine-binding protein 4 2 lysosome breast(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|stomach(2) 10 Prostate(55;0.0453)|Breast(100;0.103) Colorectal(74;0.0434)|COAD - Colon adenocarcinoma(73;0.124) CATTGTCCAACCCATGGGCAC 0.612000 30 94 0 0 1 0 0 GPR108 56927 broad.mit.edu 37 19 6732499 6732499 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:6732499T>C ENST00000264080.7 - 11 1021 c.995A>G c.(994-996)tAc>tGc p.Y332C GPR108_ENST00000430424.4_Missense_Mutation_p.Y90C NM_001080452.1 NP_001073921.1 Q9NPR9 GP108_HUMAN G protein-coupled receptor 108 332 integral to membrane breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1) 13 GTGTGCGATGTAGTACATGAC 0.627000 21 69 0 0 1 0 0 GIGYF1 64599 broad.mit.edu 37 7 100279806 100279806 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:100279806G>A ENST00000275732.5 - 22 4023 c.2814C>T c.(2812-2814)caC>caT p.H938H NM_022574.4 NP_072096.2 O75420 PERQ1_HUMAN GRB10 interacting GYF protein 1 938 central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) GGATATAATCGTGGACATCAT 0.597000 41 121 0 0 1 0 0 AP4B1 10717 broad.mit.edu 37 1 114440480 114440480 + Missense_Mutation SNP C C G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:114440480C>G ENST00000369569.1 - 7 1564 c.1284G>C c.(1282-1284)gaG>gaC p.E428D AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000256658.4_Missense_Mutation_p.E428D|AP4B1_ENST00000462591.1_5'UTR|AP4B1_ENST00000369567.1_Missense_Mutation_p.E260D NM_001253852.1 NP_001240781.1 Q9Y6B7 AP4B1_HUMAN adaptor-related protein complex 4, beta 1 subunit 428 intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|soluble fraction|trans-Golgi network protein binding|protein transporter activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3) 25 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CTTGAATGTTCTCTTCACAGC 0.468000 30 77 0 0 1 0 0 CCNA2 890 broad.mit.edu 37 4 122739319 122739319 + Missense_Mutation SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:122739319A>T ENST00000274026.5 - 7 1433 c.1130T>A c.(1129-1131)aTa>aAa p.I377K NM_001237.3 NP_001228.1 P20248 CCNA2_HUMAN cyclin A2 377 cell division|mitosis|mitotic cell cycle G2/M transition DNA damage checkpoint|Ras protein signal transduction|regulation of cyclin-dependent protein kinase activity cytoplasm|nucleoplasm protein kinase binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1) 12 AGTCTTTCGTATTAATGATTC 0.408000 4 179 0 0 1 0 0 RBMXL2 27288 broad.mit.edu 37 11 7110662 7110662 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:7110662G>A ENST00000306904.5 + 1 498 c.311G>A c.(310-312)cGc>cAc p.R104H NM_014469.4 NP_055284.3 O75526 HNRGT_HUMAN RNA binding motif protein, X-linked-like 2 104 Arg/Gly/Pro-rich. nucleus|ribonucleoprotein complex nucleotide binding|RNA binding NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) AGCCGCGGTCGCCCGAGGTTC 0.751000 3 5 0 0 1 0 0 HIP1R 9026 broad.mit.edu 37 12 123343659 123343659 + Missense_Mutation SNP G G C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:123343659G>C ENST00000253083.4 + 22 2335 c.2210G>C c.(2209-2211)gGg>gCg p.G737A NM_003959.1 NP_003950.1 O75146 HIP1R_HUMAN huntingtin interacting protein 1 related 737 receptor-mediated endocytosis clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm actin binding|phosphatidylinositol binding breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 26 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2) GAGCTCATGGGGCAGCTGCAG 0.687000 4 17 0 0 1 0 0 CLPX 10845 broad.mit.edu 37 15 65450102 65450102 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:65450102C>T ENST00000300107.3 - 8 1227 c.1039G>A c.(1039-1041)Gtg>Atg p.V347M NM_006660.3 NP_006651.2 O76031 CLPX_HUMAN caseinolytic mitochondrial matrix peptidase chaperone subunit 347 protein folding|proteolysis involved in cellular protein catabolic process mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2) 16 GCTTTTTCCACATTATAATTG 0.358000 48 90 0 0 1 0 0 MLXIP 22877 broad.mit.edu 37 12 122612496 122612496 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:122612496A>G ENST00000319080.6 + 3 719 c.587A>G c.(586-588)gAc>gGc p.D196G Q9HAP2 MLXIP_HUMAN MLX interacting protein 196 Required for cytoplasmic localization. regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial outer membrane|nucleus DNA binding NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3) 20 all_neural(191;0.0837)|Medulloblastoma(191;0.163) Lung NSC(355;0.0659) OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233) GTGGACGTAGACGAGCACCGC 0.607000 10 267 0 0 1 0 0 PLXNA1 5361 broad.mit.edu 37 3 126749132 126749132 + Missense_Mutation SNP G G C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:126749132G>C ENST00000393409.2 + 28 5108 c.5108G>C c.(5107-5109)aGc>aCc p.S1703T PLXNA1_ENST00000251772.4_Missense_Mutation_p.S1680T NM_032242.3 NP_115618.3 Q9UIW2 PLXA1_HUMAN plexin A1 1703 axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 67 GBM - Glioblastoma multiforme(114;0.155) ACCATCTTCAGCACGGCACAC 0.627000 43 127 0 0 1 0 0 IRS2 8660 broad.mit.edu 37 13 110436745 110436745 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr13:110436745A>G ENST00000375856.3 - 1 2170 c.1656T>C c.(1654-1656)tgT>tgC p.C552C NM_003749.2 NP_003740.2 Q9Y4H2 IRS2_HUMAN insulin receptor substrate 2 552 fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus cytosol|plasma membrane insulin receptor binding|signal transducer activity kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 19 all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155) Breast(118;0.159) all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147) AGGAGCGGCCACAGTGGCTCA 0.731000 13 41 0 0 1 0 0 HNRNPD 3184 broad.mit.edu 37 4 83279810 83279810 + Splice_Site SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:83279810A>G ENST00000313899.7 - 4 899 c.e4+1 HNRNPD_ENST00000353341.4_Splice_Site|HNRNPD_ENST00000352301.4_Splice_Site|HNRNPD_ENST00000543098.1_Splice_Site|HNRNPD_ENST00000541060.1_Splice_Site NM_031370.2 NP_112738.1 Q14103 HNRPD_HUMAN heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa) nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|RNA catabolic process|transcription, DNA-dependent cytosol|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding|telomeric DNA binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1) 7 TTTATAACATACCTCACCAAA 0.373000 29 90 0 0 1 0 0 DCK 1633 broad.mit.edu 37 4 71888147 71888147 + Nonsense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:71888147C>T ENST00000286648.5 + 3 668 c.271C>T c.(271-273)Cga>Tga p.R91* DCK_ENST00000504952.1_Nonsense_Mutation_p.R91*|MOB1B_ENST00000511449.1_3'UTR|DCK_ENST00000504730.1_Nonsense_Mutation_p.R91* NM_000788.2 NP_000779.1 P27707 DCK_HUMAN deoxycytidine kinase 91 purine base metabolic process|purine-containing compound salvage|pyrimidine base metabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process cytosol|nucleus ATP binding|deoxycytidine kinase activity|drug binding|phosphotransferase activity, alcohol group as acceptor|protein homodimerization activity endometrium(2)|large_intestine(3)|lung(3)|ovary(1) 9 Lung(101;0.235) Cladribine(DB00242)|Clofarabine(DB00631)|Decitabine(DB01262)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Pemetrexed(DB00642)|Zalcitabine(DB00943) GAAACCTGAACGATGGTCTTT 0.378000 6 107 0 0 1 0 0 SUN1 23353 broad.mit.edu 37 7 905684 905684 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:905684T>C ENST00000456758.2 + 22 2527 c.2527T>C c.(2527-2529)Tcc>Ccc p.S843P SUN1_ENST00000452783.2_Missense_Mutation_p.S551P|SUN1_ENST00000389574.3_Missense_Mutation_p.S571P|SUN1_ENST00000405266.1_Missense_Mutation_p.S691P|SUN1_ENST00000413514.2_Missense_Mutation_p.S452P|SUN1_ENST00000425407.2_Missense_Mutation_p.S571P|SUN1_ENST00000401592.1_Missense_Mutation_p.S654P O94901 SUN1_HUMAN Sad1 and UNC84 domain containing 1 681 cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane integral to membrane|nuclear inner membrane|SUN-KASH complex protein binding NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 CTTCTCGCAGTCCCCGCGCGT 0.577000 25 47 0 0 1 0 0 ALS2 57679 broad.mit.edu 37 2 202626476 202626476 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:202626476T>C ENST00000264276.6 - 4 613 c.241A>G c.(241-243)Agc>Ggc p.S81G ALS2_ENST00000496244.1_5'UTR|ALS2_ENST00000467448.1_Missense_Mutation_p.S81G NM_020919.3 NP_065970.2 Q96Q42 ALS2_HUMAN amyotrophic lateral sclerosis 2 (juvenile) 81 cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 72 AGAATGGGGCTACTTGGACAA 0.433000 19 135 0 0 1 0 0 CDS1 1040 broad.mit.edu 37 4 85530594 85530594 + Nonsense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:85530594G>A ENST00000295887.5 + 3 681 c.258G>A c.(256-258)tgG>tgA p.W86* NM_001263.3 NP_001254.2 Q92903 CDS1_HUMAN CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1 86 signal transduction|visual perception endoplasmic reticulum membrane|integral to membrane diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1) 20 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.00101) GGAAAAACTGGTGGATACGTG 0.333000 21 64 0 0 1 0 0 PPP2R3C 55012 broad.mit.edu 37 14 35568532 35568532 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:35568532T>C ENST00000261475.5 - 7 985 c.632A>G c.(631-633)gAa>gGa p.E211G NM_017917.2 NP_060387.2 Q969Q6 P2R3C_HUMAN protein phosphatase 2, regulatory subunit B'', gamma 211 centrosome|nucleus calcium ion binding central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1) 15 Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184) Lung(238;8.62e-06)|LUAD - Lung adenocarcinoma(48;1.42e-05)|Epithelial(34;0.0177)|all cancers(34;0.0491) GBM - Glioblastoma multiforme(112;0.0803) GAAAGATTTTTCCAGACCATC 0.308000 15 32 0 0 1 0 0 CLASP2 23122 broad.mit.edu 37 3 33644452 33644452 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:33644452G>A ENST00000399362.4 - 18 2269 c.1916C>T c.(1915-1917)gCg>gTg p.A639V CLASP2_ENST00000333778.6_Missense_Mutation_p.A416V|CLASP2_ENST00000487200.1_Missense_Mutation_p.A412V|CLASP2_ENST00000359576.5_Missense_Mutation_p.A639V|CLASP2_ENST00000307312.7_Missense_Mutation_p.A128V|CLASP2_ENST00000539981.1_Missense_Mutation_p.A391V|CLASP2_ENST00000480013.1_Missense_Mutation_p.A406V|CLASP2_ENST00000468888.2_Missense_Mutation_p.A640V|CLASP2_ENST00000313350.6_Missense_Mutation_p.A412V|CLASP2_ENST00000461133.3_Missense_Mutation_p.A406V NM_015097.2 NP_055912.2 B2RTR1 B2RTR1_HUMAN cytoplasmic linker associated protein 2 640 breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 48 ACCTAGTGACGCATAGGAACC 0.468000 8 13 0 0 1 0 0 ABCA1 19 broad.mit.edu 37 9 107594013 107594013 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:107594013A>G ENST00000374736.3 - 13 1999 c.1605T>C c.(1603-1605)ggT>ggC p.G535G NM_005502.3 NP_005493.2 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A (ABC1), member 1 535 Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 115 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) TGAACACAATACCAGCCCAGA 0.463000 27 88 0 0 1 0 0 CDH10 1008 broad.mit.edu 37 5 24537624 24537624 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:24537624C>T ENST00000264463.4 - 3 898 c.391G>A c.(391-393)Gct>Act p.A131T NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 131 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) CTGTTAATAGCTTGTGCGCGT 0.398000 HNSCC(23;0.051) 50 115 0 0 1 0 0 MFI2 4241 broad.mit.edu 37 3 196735731 196735731 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:196735731T>C ENST00000296350.5 - 12 1744 c.1631A>G c.(1630-1632)aAg>aGg p.K544R NM_005929.5 NP_005920.2 P08582 TRFM_HUMAN antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5 544 Transferrin-like 2. cellular iron ion homeostasis|iron ion transport anchored to membrane|extracellular region|integral to plasma membrane ferric iron binding|protein binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1) 20 all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838) Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00536) GCCCACACACTTGTTGCGGCC 0.647000 10 129 0 0 1 0 0 ZNF667 63934 broad.mit.edu 37 19 56953025 56953025 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:56953025T>C ENST00000504904.3 - 7 2058 c.1339A>G c.(1339-1341)Aaa>Gaa p.K447E ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000342634.3_Missense_Mutation_p.K575E|ZNF667_ENST00000292069.6_Missense_Mutation_p.K447E Q5HYK9 ZN667_HUMAN zinc finger protein 667 447 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 38 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0615) TTACTACATTTATTGCATTTG 0.353000 5 47 0 0 1 0 0 HNRNPC 3183 broad.mit.edu 37 14 21681250 21681250 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:21681250G>A ENST00000430246.2 - 5 3343 c.392C>T c.(391-393)cCt>cTt p.P131L HNRNPC_ENST00000555914.1_Missense_Mutation_p.P131L|HNRNPC_ENST00000320084.7_Missense_Mutation_p.P144L|HNRNPC_ENST00000555883.1_Missense_Mutation_p.P131L|HNRNPC_ENST00000555309.1_Missense_Mutation_p.P144L|HNRNPC_ENST00000554969.1_Missense_Mutation_p.P131L|HNRNPC_ENST00000336053.6_Missense_Mutation_p.P131L|HNRNPC_ENST00000554455.1_Missense_Mutation_p.P144L|HNRNPC_ENST00000553753.1_Missense_Mutation_p.P131L|HNRNPC_ENST00000556628.1_Missense_Mutation_p.P64L|HNRNPC_ENST00000449098.1_Missense_Mutation_p.P131L|HNRNPC_ENST00000553300.1_Missense_Mutation_p.P131L|HNRNPC_ENST00000420743.2_Missense_Mutation_p.P144L|HNRNPC_ENST00000557201.1_Missense_Mutation_p.P144L|HNRNPC_ENST00000556897.1_Missense_Mutation_p.P131L|HNRNPC_ENST00000556513.1_Missense_Mutation_p.P144L|HNRNPC_ENST00000556142.1_Missense_Mutation_p.P144L P07910 HNRPC_HUMAN heterogeneous nuclear ribonucleoprotein C (C1/C2) 144 catalytic step 2 spliceosome|nucleoplasm identical protein binding|nucleotide binding|RNA binding breast(1)|liver(1)|lung(6)|skin(1) 9 all_cancers(95;0.00176) Epithelial(56;1.08e-06)|all cancers(55;8.95e-06) GBM - Glioblastoma multiforme(265;0.00783) AGGAGGAGGAGGTACACGTGC 0.443000 45 75 0 0 1 0 0 SLC8A2 6543 broad.mit.edu 37 19 47969130 47969130 + Silent SNP G G A rs118059830 by1000genomes TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:47969130G>A ENST00000236877.6 - 2 926 c.531C>T c.(529-531)atC>atT p.I177I SLC8A2_ENST00000539381.1_Intron|SLC8A2_ENST00000542837.1_Intron NM_015063.2 NP_055878.1 Q9UPR5 NAC2_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 2 177 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1) 31 all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173) OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457) TGCACACGGCGATGACCACAA 0.582000 18 46 0 0 1 0 0 RCL1 10171 broad.mit.edu 37 9 4826916 4826916 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:4826916T>C ENST00000381750.4 + 3 490 c.267T>C c.(265-267)tgT>tgC p.C89C RCL1_ENST00000381732.3_Silent_p.C89C NM_005772.3 NP_005763.3 Q9Y2P8 RCL1_HUMAN RNA terminal phosphate cyclase-like 1 89 ribosome biogenesis|RNA processing nucleolus RNA-3'-phosphate cyclase activity breast(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 9 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.0206)|Breast(48;0.147) GBM - Glioblastoma multiforme(50;0.0244) AACATGACTGTAGCGTCCTTC 0.438000 26 252 0 0 1 0 0 TBX22 50945 broad.mit.edu 37 X 79286155 79286155 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chrX:79286155C>T ENST00000442340.1 + 9 1238 c.748C>T c.(748-750)Cct>Tct p.P250S TBX22_ENST00000373291.1_Missense_Mutation_p.P250S|TBX22_ENST00000373294.5_Missense_Mutation_p.P370S|TBX22_ENST00000373296.3_Missense_Mutation_p.P370S NM_001109878.1|NM_001109879.1 NP_001103348.1|NP_001103349.1 Q9Y458 TBX22_HUMAN T-box 22 370 multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 TGTCAACCTGCCTCTATGCTA 0.448000 41 64 0 0 1 0 0 ACE 1636 broad.mit.edu 37 17 61574234 61574234 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:61574234C>T ENST00000577647.1 + 13 1902 c.1857C>T c.(1855-1857)agC>agT p.S619S ACE_ENST00000290866.4_Silent_p.S1193S|ACE_ENST00000428043.1_Intron|ACE_ENST00000421982.2_Silent_p.S398S|ACE_ENST00000290863.6_Silent_p.S619S|ACE_ENST00000413513.3_Silent_p.S578S|ACE_ENST00000490216.2_Silent_p.S619S P12821 ACE_HUMAN angiotensin I converting enzyme 1193 Peptidase M2 1. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) CCAACATGAGCGCCTCGGCCA 0.642000 15 40 0 0 1 0 0 PCDHGB4 8641 broad.mit.edu 37 5 140768737 140768737 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:140768737C>T ENST00000519479.1 + 1 1286 c.1286C>T c.(1285-1287)cCc>cTc p.P429L PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron NM_003736.2|NM_018925.2|NM_032098.1 NP_003727.1|NP_061748.1|NP_115269.1 endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2) 37 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGCAAGCCTCCCCTCTCCTCC 0.488000 5 228 0 0 1 0 0 CHST5 23563 broad.mit.edu 37 16 75563688 75563688 + Missense_Mutation SNP G G A rs147059773 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:75563688G>A ENST00000336257.3 - 3 1989 c.595C>T c.(595-597)Cgc>Tgc p.R199C RP11-77K12.7_ENST00000460606.1_3'UTR|CHST5_ENST00000541075.1_Missense_Mutation_p.R205C NM_024533.4 NP_078809.2 Q9GZS9 CHST5_HUMAN carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 199 N-acetylglucosamine metabolic process|protein sulfation integral to membrane|intrinsic to Golgi membrane N-acetylglucosamine 6-O-sulfotransferase activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2) 24 TTGAAGAAGCGCACCTCCTTG 0.677000 65 192 0 0 1 0 0 CLEC4G 339390 broad.mit.edu 37 19 7795312 7795312 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:7795312C>T ENST00000328853.5 - 6 471 c.403G>A c.(403-405)Gct>Act p.A135T NM_001244856.1|NM_198492.3 NP_001231785.1|NP_940894.1 Q6UXB4 CLC4G_HUMAN C-type lectin domain family 4, member G 135 integral to membrane protein binding|sugar binding breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(1) 6 CCGGCTTCAGCCAAGCCCTGG 0.677000 11 43 0 0 1 0 0 NPDC1 56654 broad.mit.edu 37 9 139935003 139935003 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:139935003G>A ENST00000371600.3 - 5 1577 c.905C>T c.(904-906)gCg>gTg p.A302V NPDC1_ENST00000371601.4_Missense_Mutation_p.A224V Q9NQX5 NPDC1_HUMAN neural proliferation, differentiation and control, 1 224 integral to membrane NS(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1) 5 all_cancers(76;0.0926) Myeloproliferative disorder(178;0.0821) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486) AGGGGCCTTCGCAGTGGCGTA 0.687000 4 13 0 0 1 0 0 LENG8 114823 broad.mit.edu 37 19 54967630 54967630 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:54967630G>A ENST00000326764.5 + 10 1910 c.1431G>A c.(1429-1431)gcG>gcA p.A477A LENG8_ENST00000376514.2_Intron NM_052925.2 NP_443157.1 Q96PV6 LENG8_HUMAN leukocyte receptor cluster (LRC) member 8 440 protein binding breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 30 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.139) GAGGCAGGGCGCAGCGTGGGA 0.687000 4 21 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140500208 140500208 + Missense_Mutation SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:140500208G>T ENST00000288602.6 - 7 994 c.934C>A c.(934-936)Cta>Ata p.L312I NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 312 activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) CCAGATGTTAGGGCAGTCTCT 0.488000 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 25 88 4.47668e-21 4.72492e-21 1 1 0 FARP1 10160 broad.mit.edu 37 13 99047677 99047677 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr13:99047677T>C ENST00000376586.2 + 13 1697 c.1361T>C c.(1360-1362)gTc>gCc p.V454A FARP1_ENST00000319562.6_Missense_Mutation_p.V454A|FARP1_ENST00000595437.1_Missense_Mutation_p.V454A Q9Y4F1 FARP1_HUMAN FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) 454 regulation of Rho protein signal transduction cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1) 49 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) GAGGAGGAGGTCGTTAAGGAT 0.667000 23 109 0 0 1 0 0 CLEC4F 165530 broad.mit.edu 37 2 71043570 71043570 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:71043570C>T ENST00000272367.2 - 4 1019 c.943G>A c.(943-945)Gct>Act p.A315T CLEC4F_ENST00000426626.1_Missense_Mutation_p.A315T NM_001258027.1|NM_173535.2 NP_001244956.1|NP_775806.2 Q8N1N0 CLC4F_HUMAN C-type lectin domain family 4, member F 315 endocytosis integral to membrane receptor activity|sugar binding endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2) 37 TGGATCTCAGCACTAGTGTTG 0.413000 30 119 0 0 1 0 0 ARHGEF9 23229 broad.mit.edu 37 X 62885895 62885895 + Silent SNP G G A rs141158169 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chrX:62885895G>A ENST00000253401.6 - 7 1727 c.927C>T c.(925-927)ggC>ggT p.G309G ARHGEF9_ENST00000374878.1_Silent_p.G307G|ARHGEF9_ENST00000437457.2_Silent_p.G256G|ARHGEF9_ENST00000433323.2_Intron|ARHGEF9_ENST00000374870.4_Silent_p.G207G|ARHGEF9_ENST00000374872.1_Silent_p.G288G|ARHGEF9_ENST00000495564.1_Intron NM_015185.2 NP_056000.1 O43307 ARHG9_HUMAN Cdc42 guanine nucleotide exchange factor (GEF) 9 309 apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol Rho guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1) 35 GGATGTCCTCGCCCTGGGAAG 0.597000 22 23 0 0 1 0 0 EPHX2 2053 broad.mit.edu 37 8 27348771 27348771 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:27348771C>T ENST00000521400.1 + 1 476 c.46C>T c.(46-48)Ctg>Ttg p.L16L EPHX2_ENST00000520666.1_3'UTR|EPHX2_ENST00000521780.1_5'UTR|EPHX2_ENST00000518379.1_Silent_p.L16L|EPHX2_ENST00000517536.1_Silent_p.L16L|EPHX2_ENST00000380476.3_5'UTR NM_001979.5 NP_001970.2 P34913 HYES_HUMAN epoxide hydrolase 2, cytoplasmic 16 Phosphatase. aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction epoxide hydrolase activity|metal ion binding|protein homodimerization activity cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1) 27 Ovarian(32;2.61e-05)|all_epithelial(46;0.207) UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157) Tamoxifen(DB00675) GGTGCTGGCGCTGCCAGCGGT 0.746000 4 25 0 0 1 0 0 RAB10 10890 broad.mit.edu 37 2 26357811 26357811 + Missense_Mutation SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:26357811C>A ENST00000264710.4 + 6 1023 c.524C>A c.(523-525)cCt>cAt p.P175H RAB10_ENST00000462003.1_3'UTR NM_016131.4 NP_057215.3 P61026 RAB10_HUMAN RAB10, member RAS oncogene family 175 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding|protein binding lung(2)|ovary(1) 3 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TTGCAGACCCCTGTAAAAGAG 0.413000 10 35 3.86212e-05 3.93362e-05 1 1 0 NEB 4703 broad.mit.edu 37 2 152536301 152536301 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:152536301T>C ENST00000397345.3 - 32 3391 c.3189A>G c.(3187-3189)ggA>ggG p.G1063G NEB_ENST00000409198.1_Silent_p.G1063G|NEB_ENST00000172853.10_Silent_p.G1063G|NEB_ENST00000427231.2_Silent_p.G1063G|NEB_ENST00000603639.1_Silent_p.G1063G|NEB_ENST00000604864.1_Silent_p.G1063G NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 1063 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) TCAGGTCATATCCCTTCTTGC 0.448000 29 95 0 0 1 0 0 SCN4A 6329 broad.mit.edu 37 17 62036778 62036778 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:62036778T>C ENST00000435607.1 - 12 1942 c.1866A>G c.(1864-1866)acA>acG p.T622T SCN4A_ENST00000578147.1_Silent_p.T622T NM_000334.4 NP_000325.4 P35499 SCN4A_HUMAN sodium channel, voltage-gated, type IV, alpha subunit 622 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 101 Lamotrigine(DB00555) CCATCTCTGCTGTGAAGATGC 0.582000 10 32 0 0 1 0 0 SRRM2 23524 broad.mit.edu 37 16 2812213 2812213 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:2812213T>C ENST00000301740.8 + 11 2233 c.1684T>C c.(1684-1686)Tcc>Ccc p.S562P NM_016333.3 NP_057417.3 Q9UQ35 SRRM2_HUMAN serine/arginine repetitive matrix 2 562 Arg-rich.|Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 GCGAGGGAGGTCCCACTCTAG 0.622000 4 63 0 0 1 0 0 LRRK2 120892 broad.mit.edu 37 12 40692915 40692915 + Nonsense_Mutation SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:40692915A>T ENST00000298910.7 + 25 3410 c.3352A>T c.(3352-3354)Aaa>Taa p.K1118* LRRK2_ENST00000343742.2_Nonsense_Mutation_p.K1118* NM_198578.3 NP_940980.3 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 1118 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2) 181 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) GACTAGAAATAAAATATCAGG 0.323000 19 79 0 0 1 0 0 PQLC2 54896 broad.mit.edu 37 1 19651169 19651169 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:19651169G>A ENST00000375153.3 + 3 847 c.207G>A c.(205-207)gcG>gcA p.A69A PQLC2_ENST00000375155.3_Silent_p.A69A|PQLC2_ENST00000400548.2_Silent_p.A4A NM_001040125.1 NP_001035214.1 Q6ZP29 PQLC2_HUMAN PQ loop repeat containing 2 69 PQ-loop 1. integral to membrane haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1) 10 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) TGGACCAGGCGCTGTCCCTGT 0.617000 24 90 0 0 1 0 0 TBX20 57057 broad.mit.edu 37 7 35280609 35280609 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:35280609T>C ENST00000408931.3 - 5 1221 c.695A>G c.(694-696)cAc>cGc p.H232R NM_001077653.2|NM_001166220.1 NP_001071121.1|NP_001159692.1 Q9UMR3 TBX20_HUMAN T-box 20 232 nucleus DNA binding central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1) 18 CTTAATGATGTGCACCCTTGG 0.373000 14 39 0 0 1 0 0 ST18 9705 broad.mit.edu 37 8 53073971 53073971 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:53073971T>C ENST00000276480.7 - 14 2241 c.1558A>G c.(1558-1560)Aca>Gca p.T520A NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 520 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) CCTTGCACTGTTTGTATGAGA 0.423000 27 154 0 0 1 0 0 GJD2 57369 broad.mit.edu 37 15 35045150 35045150 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:35045150C>T ENST00000290374.4 - 2 971 c.495G>A c.(493-495)gaG>gaA p.E165E NM_020660.2 NP_065711.1 Q9UKL4 CXD2_HUMAN gap junction protein, delta 2, 36kDa 165 synaptic transmission connexon complex|integral to membrane gap junction channel activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1) 19 all_lung(180;9.67e-07) all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156) AACAATCTGGCTCTGTCTCCT 0.507000 32 272 0 0 1 0 0 TRABD 80305 broad.mit.edu 37 22 50636360 50636360 + Silent SNP C C T rs139842330 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr22:50636360C>T ENST00000303434.4 + 8 899 c.780C>T c.(778-780)gaC>gaT p.D260D TRABD_ENST00000395827.1_Silent_p.D260D|TRABD_ENST00000395829.1_Silent_p.D260D|TRABD_ENST00000380909.4_Silent_p.D260D NM_025204.2 NP_079480.2 Q9H4I3 TRABD_HUMAN TraB domain containing 260 breast(1)|central_nervous_system(1)|large_intestine(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1) 7 all_cancers(38;1.07e-07)|all_epithelial(38;9.6e-07)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162) LUAD - Lung adenocarcinoma(64;0.105) CGGAGCGCGACGTCTACCTAA 0.667000 38 115 0 0 1 0 0 POU3F3 5455 broad.mit.edu 37 2 105473172 105473172 + Missense_Mutation SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:105473172G>T ENST00000361360.2 + 1 1204 c.1204G>T c.(1204-1206)Gcg>Tcg p.A402S RP11-13J10.1_ENST00000598623.1_RNA NM_006236.1 NP_006227.1 P20264 PO3F3_HUMAN POU class 3 homeobox 3 402 metanephric ascending thin limb development|metanephric DCT cell differentiation|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation nucleus sequence-specific DNA binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 12 CAAGATCGCGGCGCAGGGCCG 0.632000 16 46 4.7546e-09 4.90914e-09 1 1 0 LRP1 4035 broad.mit.edu 37 12 57573223 57573223 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:57573223T>C ENST00000243077.3 + 29 5316 c.4850T>C c.(4849-4851)gTc>gCc p.V1617A NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 1617 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) ATCGACAACGTCACAGTGCTA 0.582000 5 96 0 0 1 0 0 PLXNA2 5362 broad.mit.edu 37 1 208206837 208206837 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:208206837T>C ENST00000367033.3 - 28 5639 c.4882A>G c.(4882-4884)Acg>Gcg p.T1628A NM_025179.3 NP_079455.3 O75051 PLXA2_HUMAN plexin A2 1628 axon guidance integral to membrane|intracellular|plasma membrane NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3) 80 OV - Ovarian serous cystadenocarcinoma(81;0.199) GGGCTGCCCGTATACCTGAAG 0.602000 6 33 0 0 1 0 0 IKZF1 10320 broad.mit.edu 37 7 50450322 50450322 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:50450322G>A ENST00000331340.3 + 5 661 c.506G>A c.(505-507)gGg>gAg p.G169E IKZF1_ENST00000359197.5_Missense_Mutation_p.G169E|IKZF1_ENST00000343574.5_Missense_Mutation_p.G82E|IKZF1_ENST00000438033.1_Missense_Mutation_p.G82E|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000439701.1_Missense_Mutation_p.G169E|IKZF1_ENST00000440768.2_Missense_Mutation_p.G169E|IKZF1_ENST00000349824.4_Intron|IKZF1_ENST00000357364.4_Missense_Mutation_p.G169E NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4 NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1 Q13422 IKZF1_HUMAN IKAROS family zinc finger 1 (Ikaros) 169 cell cycle|chromatin modification|mesoderm development cytoplasm|nucleus zinc ion binding p.?(131) haematopoietic_and_lymphoid_tissue(275)|lung(1) 276 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07) CTGCATTCCGGGGAGAAGCCC 0.642000 """D,T""" BCL6 """ALL, DLBCL""" 6 14 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158637817 158637817 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:158637817C>T ENST00000368148.3 - 15 2049 c.1869G>A c.(1867-1869)caG>caA p.Q623Q SPTA1_ENST00000368147.3_Silent_p.Q623Q NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 623 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) CAAAGACTTGCTGCTTTTGAA 0.393000 42 147 0 0 1 0 0 CD34 947 broad.mit.edu 37 1 208061250 208061250 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:208061250T>C ENST00000310833.7 - 8 1312 c.991A>G c.(991-993)Acg>Gcg p.T331A CD34_ENST00000485761.1_Intron|CD34_ENST00000367036.3_Missense_Mutation_p.T173A|CD34_ENST00000537704.1_Missense_Mutation_p.T196A|CD34_ENST00000356522.4_3'UTR NM_001025109.1 NP_001020280.1 P28906 CD34_HUMAN CD34 molecule 331 cell-cell adhesion|leukocyte migration|regulation of immune response integral to membrane carbohydrate binding kidney(2)|large_intestine(2)|lung(8)|ovary(1) 13 CCGTTTTCCGTGTAATAAGGG 0.552000 5 29 0 0 1 0 0 KLF1 10661 broad.mit.edu 37 19 12995742 12995742 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:12995742G>A ENST00000264834.4 - 3 1086 c.1046C>T c.(1045-1047)tCg>tTg p.S349L NM_006563.3 NP_006554.1 Q13351 KLF1_HUMAN Kruppel-like factor 1 (erythroid) 349 erythrocyte differentiation|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(3)|large_intestine(1)|skin(1) 5 Hepatocellular(1079;0.137) GBM - Glioblastoma multiforme(1328;0.00016)|Lung(535;0.171)|STAD - Stomach adenocarcinoma(1328;0.18) GTCAGAGCGCGAAAAAGCACG 0.637000 36 69 0 0 1 0 0 DNAAF1 123872 broad.mit.edu 37 16 84203766 84203766 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:84203766T>C ENST00000378553.5 + 8 1456 c.1332T>C c.(1330-1332)gcT>gcC p.A444A DNAAF1_ENST00000334315.5_Intron|DNAAF1_ENST00000563818.1_3'UTR NM_178452.4 NP_848547.4 Q8NEP3 DAAF1_HUMAN dynein, axonemal, assembly factor 1 444 Pro-rich. axonemal dynein complex assembly|cilium morphogenesis cilium axoneme|cytoplasm|spindle pole dynein binding NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1) 41 CCCTCCCAGCTGAGGCCCCAC 0.632000 11 97 0 0 1 0 0 FZD10 11211 broad.mit.edu 37 12 130648984 130648984 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:130648984C>T ENST00000229030.4 + 1 1981 c.1497C>T c.(1495-1497)ccC>ccT p.P499P FZD10_ENST00000539839.1_3'UTR Q9ULW2 FZD10_HUMAN frizzled family receptor 10 499 brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development cell projection|cell surface|cytoplasm|integral to plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1) 35 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05) CCTCCATCCCCGCCGTGGAGA 0.557000 28 47 0 0 1 0 0 TNNT3 7140 broad.mit.edu 37 11 1957456 1957456 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:1957456C>T ENST00000360603.3 + 14 888 c.676C>T c.(676-678)Cgg>Tgg p.R226W TNNT3_ENST00000278317.6_Intron|TNNT3_ENST00000381561.4_Intron|TNNT3_ENST00000381549.3_Intron|TNNT3_ENST00000381579.3_Missense_Mutation_p.R224W|TNNT3_ENST00000397301.1_Intron|TNNT3_ENST00000381589.3_Intron|TNNT3_ENST00000381548.3_Intron|TNNT3_ENST00000446240.1_Missense_Mutation_p.R213W|TNNT3_ENST00000381558.1_Intron|TNNT3_ENST00000397304.2_Intron P45378 TNNT3_HUMAN troponin T type 3 (skeletal, fast) 243 muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction cytosol|troponin complex calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1) 19 all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826) CATGAATGTCCGGGCCAGAGT 0.627000 21 58 0 0 1 0 0 RYK 6259 broad.mit.edu 37 3 133878201 133878201 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:133878201G>A ENST00000427044.2 - 15 1635 c.1025C>T c.(1024-1026)aCg>aTg p.T342M RYK_ENST00000296084.4_Missense_Mutation_p.T532M P34925 RYK_HUMAN receptor-like tyrosine kinase 528 Protein kinase. corpus callosum development|positive regulation of MAPKKK cascade|Wnt receptor signaling pathway cytoplasm|integral to plasma membrane|nucleus ATP binding|transmembrane receptor protein tyrosine kinase activity lung(1)|ovary(3) 4 TTCCCACAGCGTCACTCCAAA 0.537000 10 35 0 0 1 0 0 DENND4C 55667 broad.mit.edu 37 9 19346377 19346377 + Missense_Mutation SNP A A G rs142943763 by1000genomes TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:19346377A>G ENST00000307015.9 + 19 2926 c.1174A>G c.(1174-1176)Aca>Gca p.T392A DENND4C_ENST00000380432.2_Missense_Mutation_p.T919A|DENND4C_ENST00000602925.1_Missense_Mutation_p.T1155A|DENND4C_ENST00000434457.2_Missense_Mutation_p.T1204A|DENND4C_ENST00000540671.1_Missense_Mutation_p.T249A Q5VZ89 DEN4C_HUMAN DENN/MADD domain containing 4C 919 dDENN. integral to membrane breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 AACAGTAGATACATATGAGAG 0.408000 12 64 0 0 1 0 0 CLCC1 23155 broad.mit.edu 37 1 109479734 109479734 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:109479734C>T ENST00000369971.2 - 10 1477 c.1348G>A c.(1348-1350)Gca>Aca p.A450T CLCC1_ENST00000369968.2_Missense_Mutation_p.A265T|CLCC1_ENST00000415331.1_Missense_Mutation_p.A400T|CLCC1_ENST00000369969.2_Missense_Mutation_p.A329T|CLCC1_ENST00000348264.2_Missense_Mutation_p.A265T|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000302500.4_Missense_Mutation_p.A329T|CLCC1_ENST00000369970.3_Missense_Mutation_p.A400T|CLCC1_ENST00000369976.1_Intron|CLCC1_ENST00000356970.2_Missense_Mutation_p.A450T|CLCC1_ENST00000482889.1_Intron NM_001048210.1 NP_001041675.1 Q96S66 CLCC1_HUMAN chloride channel CLIC-like 1 450 endoplasmic reticulum|Golgi apparatus|integral to membrane|nucleus autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1) 14 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626) Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231) CGTGCCTCTGCGTCTGGTACA 0.483000 25 69 0 0 1 0 0 DCAF7 10238 broad.mit.edu 37 17 61628097 61628097 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:61628097A>G ENST00000310827.4 + 1 276 c.59A>G c.(58-60)tAc>tGc p.Y20C DCAF7_ENST00000577702.1_3'UTR|DCAF7_ENST00000415273.2_Missense_Mutation_p.Y20C|DCAF7_ENST00000431926.1_Missense_Mutation_p.Y20C NM_005828.3 NP_005819.3 P61962 DCAF7_HUMAN DDB1 and CUL4 associated factor 7 20 multicellular organismal development CUL4 RING ubiquitin ligase complex|cytoplasm|nucleus protein binding endometrium(6)|kidney(2)|large_intestine(4)|lung(5)|ovary(1) 18 TGGACAGTCTACGCGATGAAC 0.637000 4 117 0 0 1 0 0 EIF3C 8663 broad.mit.edu 37 16 28734556 28734556 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:28734556A>G ENST00000331666.6 + 9 1034 c.848A>G c.(847-849)gAc>gGc p.D283G EIF3C_ENST00000566866.1_Missense_Mutation_p.D283G|EIF3C_ENST00000564243.1_Missense_Mutation_p.D273G|EIF3C_ENST00000395587.1_Missense_Mutation_p.D283G|EIF3C_ENST00000566501.1_Missense_Mutation_p.D283G Q99613 EIF3C_HUMAN eukaryotic translation initiation factor 3, subunit C 283 cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity lung(5)|skin(1) 6 AAGAAGCACGACAGGAAATCC 0.572000 12 626 0 0 1 0 0 RUSC2 9853 broad.mit.edu 37 9 35548395 35548395 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:35548395A>G ENST00000455600.1 + 2 2446 c.1877A>G c.(1876-1878)cAc>cGc p.H626R NM_001135999.1 NP_001129471.1 Q8N2Y8 RUSC2_HUMAN RUN and SH3 domain containing 2 626 cytosol NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194) CAGGGACCCCACTCCAGTGAG 0.647000 20 67 0 0 1 0 0 FAM211A 388341 broad.mit.edu 37 17 16365661 16365661 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:16365661A>G ENST00000409083.3 - 2 448 c.286T>C c.(286-288)Tat>Cat p.Y96H C17orf76-AS1_ENST00000579473.1_RNA|FAM211A_ENST00000470794.1_Missense_Mutation_p.Y96H|C17orf76-AS1_ENST00000478103.2_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000580770.1_RNA NM_207387.3 NP_997270.2 Q8NAA5 CQ076_HUMAN family with sequence similarity 211, member A 96 lung(1) 1 GCGTAGCGATACAGAACGTCG 0.622000 17 49 0 0 1 0 0 CORO1B 57175 broad.mit.edu 37 11 67208934 67208934 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:67208934T>C ENST00000393893.1 - 6 609 c.506A>G c.(505-507)tAc>tGc p.Y169C CORO1B_ENST00000453768.2_Missense_Mutation_p.Y169C|CORO1B_ENST00000545016.1_3'UTR|CORO1B_ENST00000341356.5_Missense_Mutation_p.Y169C NM_001018070.2 NP_001018080.1 Q9BR76 COR1B_HUMAN coronin, actin binding protein, 1B 169 actin cytoskeleton organization actin cytoskeleton|cytoplasm actin filament binding cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1) 13 BRCA - Breast invasive adenocarcinoma(15;3.26e-06) GTCCAGGCGGTACAGCTCCTC 0.607000 20 43 0 0 1 0 0 CMAS 55907 broad.mit.edu 37 12 22218161 22218161 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:22218161T>C ENST00000229329.2 + 8 1351 c.1221T>C c.(1219-1221)tgT>tgC p.C407C NM_018686.4 NP_061156.1 Q8NFW8 NEUA_HUMAN cytidine monophosphate N-acetylneuraminic acid synthetase 407 lipopolysaccharide biosynthetic process nucleus N-acylneuraminate cytidylyltransferase activity autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 24 TTTGCAAATGTAATGGTGGCC 0.438000 45 156 0 0 1 0 0 CDH12 1010 broad.mit.edu 37 5 21751992 21751992 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:21751992C>T ENST00000382254.1 - 15 3325 c.2239G>A c.(2239-2241)Gtg>Atg p.V747M CDH12_ENST00000522262.1_Missense_Mutation_p.V707M|CDH12_ENST00000504376.2_Missense_Mutation_p.V747M|CDH12_ENST00000521384.1_5'UTR|RP11-804N13.1_ENST00000522350.1_RNA NM_004061.3 NP_004052.2 P55289 CAD12_HUMAN cadherin 12, type 2 (N-cadherin 2) 747 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 GACTCTGCCACGGACCCACTC 0.512000 HNSCC(59;0.17) 14 104 0 0 1 0 0 KANSL1 284058 broad.mit.edu 37 17 44111533 44111533 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:44111533G>A ENST00000262419.6 - 11 3130 c.2660C>T c.(2659-2661)aCg>aTg p.T887M KANSL1_ENST00000574590.1_Missense_Mutation_p.T887M|KANSL1_ENST00000575318.1_Missense_Mutation_p.T823M|KANSL1_ENST00000432791.1_Missense_Mutation_p.T887M|KANSL1_ENST00000393476.3_Missense_Mutation_p.T181M|KANSL1_ENST00000572904.1_Missense_Mutation_p.T887M NM_001193466.1 NP_001180395.1 Q7Z3B3 K1267_HUMAN KAT8 regulatory NSL complex subunit 1 887 MLL1 complex protein binding CTACCTGGGCGTAAGGATTTC 0.463000 9 30 0 0 1 0 0 HIAT1 64645 broad.mit.edu 37 1 100527484 100527484 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:100527484A>G ENST00000370152.3 + 5 601 c.465A>G c.(463-465)gaA>gaG p.E155E RP4-714D9.2_ENST00000432294.1_RNA NM_033055.2 NP_149044.2 Q96MC6 HIAT1_HUMAN hippocampus abundant transcript 1 155 transmembrane transport integral to membrane|plasma membrane transporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1) 16 all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131) Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195) AAGAGCATGAAAGAAGTATGG 0.358000 12 66 0 0 1 0 0 HDAC4 9759 broad.mit.edu 37 2 240111605 240111605 + Missense_Mutation SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:240111605A>T ENST00000345617.3 - 4 1054 c.263T>A c.(262-264)aTc>aAc p.I88N HDAC4_ENST00000541256.1_Missense_Mutation_p.I57N NM_006037.3 NP_006028.2 P56524 HDAC4_HUMAN histone deacetylase 4 88 B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent histone deacetylase complex|transcriptional repressor complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5) 62 all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159) Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04) AGCGATGAGGATCTGCCTCTG 0.667000 18 36 0 0 1 0 0 SIK2 23235 broad.mit.edu 37 11 111583056 111583056 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:111583056C>T ENST00000304987.3 + 9 1396 c.1223C>T c.(1222-1224)gCg>gTg p.A408V NM_015191.1 NP_056006.1 Q9H0K1 SIK2_HUMAN salt-inducible kinase 2 408 intracellular protein kinase cascade|regulation of insulin receptor signaling pathway Golgi apparatus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 30 GGCTGTCAGGCGGAAGCTGCA 0.532000 10 59 0 0 1 0 0 RASGRP3 25780 broad.mit.edu 37 2 33745628 33745628 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:33745628T>C ENST00000403687.3 + 6 985 c.245T>C c.(244-246)aTt>aCt p.I82T RASGRP3_ENST00000402538.3_Missense_Mutation_p.I82T|RASGRP3_ENST00000407811.1_Missense_Mutation_p.I82T NM_001139488.1 NP_001132960.1 Q8IV61 GRP3_HUMAN RAS guanyl releasing protein 3 (calcium and DAG-regulated) 82 N-terminal Ras-GEF. MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2) 11 all_hematologic(175;0.115) AGGTACTGGATTCTGAAGTTT 0.383000 31 310 0 0 1 0 0 STEAP2 261729 broad.mit.edu 37 7 89856547 89856547 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:89856547T>C ENST00000287908.3 + 3 1148 c.755T>C c.(754-756)aTa>aCa p.I252T STEAP2_ENST00000394621.2_Missense_Mutation_p.I252T|STEAP2_ENST00000394626.1_Missense_Mutation_p.I252T|STEAP2_ENST00000394632.1_Missense_Mutation_p.I252T|STEAP2_ENST00000394629.2_Missense_Mutation_p.I252T|STEAP2_ENST00000394622.2_Missense_Mutation_p.I252T|STEAP2_ENST00000402625.2_Missense_Mutation_p.I252T NM_001244944.1|NM_152999.3 NP_001231873.1|NP_694544.2 Q8NFT2 STEA2_HUMAN STEAP family member 2, metalloreductase 252 electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1) 15 all_hematologic(106;0.112) AAAATTCCTATAGAGATTGTG 0.383000 15 70 0 0 1 0 0 BLVRB 645 broad.mit.edu 37 19 40953925 40953925 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:40953925T>C ENST00000263368.4 - 5 643 c.492A>G c.(490-492)acA>acG p.T164T BLVRB_ENST00000595483.1_Silent_p.T121T NM_000713.2 NP_000704.1 P30043 BLVRB_HUMAN biliverdin reductase B (flavin reductase (NADPH)) 164 heme catabolic process cytosol biliverdin reductase activity|binding|flavin reductase activity large_intestine(3)|lung(3) 6 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) NADH(DB00157)|Riboflavin(DB00140) CCAGGGTCACTGTGTACGCCC 0.552000 21 59 0 0 1 0 0 ZNFX1 57169 broad.mit.edu 37 20 47887207 47887207 + Missense_Mutation SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:47887207A>T ENST00000396105.1 - 3 1388 c.1142T>A c.(1141-1143)gTc>gAc p.V381D ZNFX1_ENST00000371754.4_Missense_Mutation_p.V381D|ZNFX1_ENST00000371752.1_Missense_Mutation_p.V381D NM_021035.2 NP_066363.1 Q9P2E3 ZNFX1_HUMAN zinc finger, NFX1-type containing 1 381 metal ion binding cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 60 BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) TAAAGGTCTGACGAAATCTTC 0.473000 31 87 0 0 1 0 0 CILP 8483 broad.mit.edu 37 15 65490345 65490345 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:65490345C>T ENST00000261883.4 - 9 2445 c.2279G>A c.(2278-2280)cGg>cAg p.R760Q NM_003613.3 NP_003604.3 O75339 CILP1_HUMAN cartilage intermediate layer protein, nucleotide pyrophosphohydrolase 760 negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 55 CCTCTCACTCCGGTAGGCCCT 0.547000 61 161 0 0 1 0 0 STXBP3 6814 broad.mit.edu 37 1 109318958 109318958 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:109318958A>G ENST00000370008.3 + 8 647 c.597A>G c.(595-597)aaA>aaG p.K199K STXBP3_ENST00000485167.1_3'UTR NM_007269.2 NP_009200.2 O00186 STXB3_HUMAN syntaxin binding protein 3 199 Mediates interaction with DOC2B (By similarity). negative regulation of calcium ion-dependent exocytosis|neutrophil degranulation|platelet aggregation|protein transport|vesicle docking involved in exocytosis cytosol|nucleus|platelet alpha granule|specific granule|tertiary granule syntaxin-2 binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1) 13 all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508) Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231) TTTCTAGTAAACCTCTAGATA 0.279000 4 21 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168105300 168105300 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:168105300A>G ENST00000409195.1 + 9 7487 c.7398A>G c.(7396-7398)gtA>gtG p.V2466V XIRP2_ENST00000409273.1_Silent_p.V2244V|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Silent_p.V2466V|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 2291 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 AGAAAAAAGTAATGGTGATGA 0.368000 10 90 0 0 1 0 0 TLL2 7093 broad.mit.edu 37 10 98127953 98127953 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:98127953A>G ENST00000357947.3 - 21 3165 c.2940T>C c.(2938-2940)ggT>ggC p.G980G NM_012465.3 NP_036597.1 Q9Y6L7 TLL2_HUMAN tolloid-like 2 980 CUB 5. cell differentiation|multicellular organismal development|proteolysis extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 58 Colorectal(252;0.0846) Epithelial(162;1.51e-07)|all cancers(201;7.59e-06) TCAGGGAATCACCTGCAGAGT 0.478000 10 80 0 0 1 0 0 UTP14A 10813 broad.mit.edu 37 X 129059902 129059902 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chrX:129059902A>G ENST00000394422.3 + 13 1785 c.1757A>G c.(1756-1758)gAa>gGa p.E586G RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000371042.3_Missense_Mutation_p.E418G|UTP14A_ENST00000425117.2_Missense_Mutation_p.E534G|UTP14A_ENST00000371051.5_Missense_Mutation_p.E532G NM_006649.3 NP_006640.2 Q9BVJ6 UT14A_HUMAN UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast) 586 rRNA processing nucleolus|small-subunit processome protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1) 32 CAGGAAGATGAAGAGGAGAGA 0.483000 OREG0019920 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 6 0 0 1 0 0 ZNF662 389114 broad.mit.edu 37 3 42950329 42950329 + Nonsense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:42950329C>T ENST00000541208.1 + 3 448 c.79C>T c.(79-81)Cga>Tga p.R27* ZNF662_ENST00000440367.2_Nonsense_Mutation_p.R27*|ZNF662_ENST00000328199.6_Nonsense_Mutation_p.R87*|KRBOX1_ENST00000426937.1_5'UTR|ZNF662_ENST00000422021.1_Nonsense_Mutation_p.R27*|ZNF662_ENST00000430067.2_3'UTR Q6ZS27 ZN662_HUMAN zinc finger protein 662 27 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1) 15 KIRC - Kidney renal clear cell carcinoma(284;0.217) CCAGCTGGAGCGAGGGGAAAC 0.577000 57 146 0 0 1 0 0 LRRC4B 94030 broad.mit.edu 37 19 51021586 51021586 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:51021586C>T ENST00000599957.1 - 3 1581 c.1384G>A c.(1384-1386)Ggg>Agg p.G462R LRRC4B_ENST00000389201.3_Missense_Mutation_p.G462R Q9NT99 LRC4B_HUMAN leucine rich repeat containing 4B 462 Gly-rich. cell junction|integral to membrane|presynaptic membrane breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1) 30 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188) ccggtgcccccggccgccacG 0.716000 15 35 0 0 1 0 0 DCAF15 90379 broad.mit.edu 37 19 14071164 14071164 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:14071164T>C ENST00000254337.6 + 11 1613 c.1592T>C c.(1591-1593)gTc>gCc p.V531A NM_138353.2 NP_612362.2 Q66K64 DCA15_HUMAN DDB1 and CUL4 associated factor 15 531 breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1) 11 TTCGAGACAGTCAGTGTAGGC 0.612000 OREG0025301 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 38 88 0 0 1 0 0 CLEC3A 10143 broad.mit.edu 37 16 78064610 78064610 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:78064610C>T ENST00000299642.4 + 3 578 c.493C>T c.(493-495)Cgt>Tgt p.R165C RP11-281J9.2_ENST00000563114.1_RNA|CLEC3A_ENST00000575655.1_Missense_Mutation_p.R156C|CLEC3A_ENST00000565808.1_3'UTR NM_001244755.1 NP_001231684.1 O75596 CLC3A_HUMAN C-type lectin domain family 3, member A 156 C-type lectin. skeletal system development extracellular region sugar binding NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2) 18 CAACTGGGACCGTGCACAGCC 0.532000 35 73 0 0 1 0 0 MIR99AHG 388815 broad.mit.edu 37 21 17443617 17443617 + RNA SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr21:17443617G>T ENST00000458468.1 + 0 211 NR_027790.1 GAAAGTATCTGGTTCAACCGC 0.537000 34 126 6.90743e-12 7.18621e-12 1 1 0 FLG 2312 broad.mit.edu 37 1 152283287 152283287 + Missense_Mutation SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:152283287A>T ENST00000368799.1 - 3 4110 c.4075T>A c.(4075-4077)Tcc>Acc p.S1359T FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1359 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGGTGGCGGGATCCATGTCTT 0.547000 Ichthyosis 193 591 0 0 1 0 0 LAMP1 3916 broad.mit.edu 37 13 113975727 113975727 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr13:113975727T>C ENST00000332556.4 + 7 1079 c.885T>C c.(883-885)agT>agC p.S295S LAMP1_ENST00000397181.3_Silent_p.S242S NM_005561.3 NP_005552.3 P11279 LAMP1_HUMAN lysosomal-associated membrane protein 1 295 Second lumenal domain. endosome membrane|integral to plasma membrane|lysosomal membrane|membrane fraction NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|skin(1)|stomach(2) 16 Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188) all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246) AGAATGCAAGTTCTAGCCGGT 0.448000 22 62 0 0 1 0 0 ENTPD3 956 broad.mit.edu 37 3 40433581 40433581 + Silent SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:40433581A>T ENST00000301825.3 + 3 226 c.108A>T c.(106-108)gtA>gtT p.V36V ENTPD3_ENST00000445129.1_Silent_p.V36V|ENTPD3-AS1_ENST00000452768.1_RNA|ENTPD3-AS1_ENST00000425156.1_RNA|ENTPD3_ENST00000456402.1_Silent_p.V36V|ENTPD3-AS1_ENST00000439293.1_RNA NM_001248.2 NP_001239.2 O75355 ENTP3_HUMAN ectonucleoside triphosphate diphosphohydrolase 3 36 integral to membrane ATP binding|hydrolase activity endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758) GTATTGTGGTACTTGTGAGTA 0.498000 29 110 0 0 1 0 0 DOCK7 85440 broad.mit.edu 37 1 62971474 62971474 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:62971474G>A ENST00000251157.5 - 36 4496 c.4463C>T c.(4462-4464)aCg>aTg p.T1488M DOCK7_ENST00000340370.5_Missense_Mutation_p.T1466M NM_001271999.1 NP_001258928.1 Q96N67 DOCK7_HUMAN dedicator of cytokinesis 7 1497 activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation axon|basal part of cell|growth cone GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 92 TTTGGATTCCGTTACAGAAAC 0.368000 15 46 0 0 1 0 0 ITSN1 6453 broad.mit.edu 37 21 35257786 35257786 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr21:35257786C>T ENST00000381318.3 + 38 5091 c.4803C>T c.(4801-4803)aaC>aaT p.N1601N ITSN1_ENST00000437442.2_Silent_p.N1540N|ITSN1_ENST00000381285.4_Silent_p.N1601N|ITSN1_ENST00000399367.3_Silent_p.N1596N|ITSN1_ENST00000399326.3_3'UTR|AP000304.12_ENST00000429238.1_Intron NM_003024.2 NP_003015.2 Q15811 ITSN1_HUMAN intersectin 1 (SH3 domain protein) 1601 C2. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 67 TGATGGTGAACGTGGTTGAAG 0.547000 32 98 0 0 1 0 0 SH2D3C 10044 broad.mit.edu 37 9 130511746 130511746 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:130511746C>T ENST00000314830.8 - 5 996 c.883G>A c.(883-885)Gcc>Acc p.A295T SH2D3C_ENST00000471939.1_Intron|SH2D3C_ENST00000373277.4_Missense_Mutation_p.A138T|SH2D3C_ENST00000420366.1_Missense_Mutation_p.A137T|SH2D3C_ENST00000373276.3_Missense_Mutation_p.A227T|SH2D3C_ENST00000373274.3_Missense_Mutation_p.A135T|SH2D3C_ENST00000429553.1_5'UTR NM_170600.2 NP_733745.1 Q8N5H7 SH2D3_HUMAN SH2 domain containing 3C 295 SH2. JNK cascade|small GTPase mediated signal transduction cytoplasm|membrane guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 CGCACGAGGGCGGGCACGTGG 0.587000 15 58 0 0 1 0 0 MAP6 4135 broad.mit.edu 37 11 75298324 75298324 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:75298324A>G ENST00000304771.3 - 4 2972 c.2222T>C c.(2221-2223)aTa>aCa p.I741T CTD-2530H12.4_ENST00000527803.1_RNA|MAP6_ENST00000526740.1_Missense_Mutation_p.I412T NM_033063.1 NP_149052.1 Q96JE9 MAP6_HUMAN microtubule-associated protein 6 741 Pro-rich. Golgi apparatus|microtubule|perinuclear region of cytoplasm calmodulin binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1) 19 Ovarian(111;0.11) TTCAGGGACTATACGACCTTG 0.512000 72 197 0 0 1 0 0 KRT12 3859 broad.mit.edu 37 17 39021207 39021207 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:39021207T>C ENST00000251643.4 - 3 681 c.658A>G c.(658-660)Aat>Gat p.N220D NM_000223.3 NP_000214.1 Q99456 K1C12_HUMAN keratin 12 220 Coil 1B.|Rod. visual perception intermediate filament structural molecule activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2) 15 Breast(137;0.000301) GCCAGTTCATTCTCATACCTG 0.537000 6 94 0 0 1 0 0 GTF3C1 2975 broad.mit.edu 37 16 27472687 27472687 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:27472687T>C ENST00000356183.4 - 37 6329 c.6314A>G c.(6313-6315)aAg>aGg p.K2105R GTF3C1_ENST00000561623.1_Missense_Mutation_p.K2080R NM_001520.3 NP_001511.2 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1, alpha 220kDa 2105 transcription factor TFIIIC complex DNA binding|protein binding breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 80 GTGGATCCACTTGTTCCAGTT 0.662000 18 75 0 0 1 0 0 WDR59 79726 broad.mit.edu 37 16 74985406 74985406 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:74985406G>A ENST00000262144.6 - 4 406 c.276C>T c.(274-276)gaC>gaT p.D92D WDR59_ENST00000562331.1_5'UTR NM_030581.3 NP_085058.3 Q6PJI9 WDR59_HUMAN WD repeat domain 59 92 breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1) 27 CCCCACTGCCGTCTTTCCACT 0.502000 4 10 0 0 1 0 0 KRTAP4-6 81871 broad.mit.edu 37 17 39296500 39296500 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:39296500G>A ENST00000345847.4 - 1 239 c.240C>T c.(238-240)tgC>tgT p.C80C NM_030976.1 NP_112238.1 Q9BYQ5 KRA46_HUMAN keratin associated protein 4-6 76 29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP]. keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1) 9 AGCTAGGGCGGCAGCAGGTGG 0.657000 9 130 0 0 1 0 0 CATSPERG 57828 broad.mit.edu 37 19 38853038 38853038 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:38853038G>A ENST00000409235.3 + 19 2295 c.2180G>A c.(2179-2181)aGc>aAc p.S727N AC005625.1_ENST00000590304.1_RNA|CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Missense_Mutation_p.S687N NM_021185.4 NP_067008.3 Q6ZRH7 CTSRG_HUMAN catsper channel auxiliary subunit gamma 727 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2) 40 TTCTTGGCGAGCAATTGGCGA 0.632000 6 194 0 0 1 0 0 DNAAF2 55172 broad.mit.edu 37 14 50092624 50092624 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:50092624A>G ENST00000298292.8 - 3 2230 c.2150T>C c.(2149-2151)cTa>cCa p.L717P DNAAF2_ENST00000406043.3_Missense_Mutation_p.L669P NM_018139.2 NP_060609.2 Q9NVR5 KTU_HUMAN dynein, axonemal, assembly factor 2 717 axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility cytoplasm kidney(1)|lung(4) 5 ATCTATTTGTAGTGCTTTAAC 0.333000 13 17 0 0 1 0 0 DLGAP4 22839 broad.mit.edu 37 20 35128968 35128968 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:35128968C>T ENST00000373913.3 + 10 2937 c.2457C>T c.(2455-2457)tgC>tgT p.C819C DLGAP4_ENST00000475894.1_3'UTR|DLGAP4_ENST00000340491.4_Silent_p.C283C|DLGAP4_ENST00000339266.5_Silent_p.C822C|DLGAP4_ENST00000401952.2_Silent_p.C819C|DLGAP4_ENST00000373907.2_Silent_p.C822C Q9Y2H0 DLGP4_HUMAN discs, large (Drosophila) homolog-associated protein 4 822 cell-cell signaling membrane protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 37 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) AAGGCTGGTGCTGCCAGATGG 0.602000 29 95 0 0 1 0 0 DTX1 1840 broad.mit.edu 37 12 113534672 113534672 + Silent SNP C C T rs142267522 byFrequency TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:113534672C>T ENST00000257600.3 + 9 2294 c.1791C>T c.(1789-1791)gaC>gaT p.D597D DTX1_ENST00000547974.1_3'UTR NM_004416.2 NP_004407.2 Q86Y01 DTX1_HUMAN deltex homolog 1 (Drosophila) 597 negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter cytoplasm|nucleus Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding p.D597D(1) central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 32 GCTACCCGGACGCTAGCTACC 0.637000 16 59 0 0 1 0 0 NPTN 27020 broad.mit.edu 37 15 73889513 73889513 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:73889513C>T ENST00000345330.4 - 2 486 c.289G>A c.(289-291)Ggc>Agc p.G97S NPTN_ENST00000562924.1_Intron|NPTN_ENST00000287226.8_Missense_Mutation_p.G97S|NPTN_ENST00000545878.1_Missense_Mutation_p.G97S|NPTN_ENST00000564551.1_Intron|NPTN_ENST00000542234.1_Intron|NPTN_ENST00000563691.1_Missense_Mutation_p.G97S|NPTN_ENST00000351217.6_Intron NM_001161363.1|NM_012428.3 NP_001154835.1|NP_036560.1 Q9Y639 NPTN_HUMAN neuroplastin 97 Ig-like 1. elevation of cytosolic calcium ion concentration|homophilic cell adhesion|long-term synaptic potentiation|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of long-term neuronal synaptic plasticity|positive regulation of neuron projection development|positive regulation of protein phosphorylation integral to membrane|plasma membrane|presynaptic membrane cell adhesion molecule binding|type 1 fibroblast growth factor receptor binding p.G97S(1) breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 13 ACACTCACGCCGTTTGACCCG 0.582000 17 82 0 0 1 0 0 ZNF324 25799 broad.mit.edu 37 19 58980561 58980561 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:58980561T>C ENST00000536459.2 + 2 718 c.9T>C c.(7-9)ttT>ttC p.F3F ZNF324_ENST00000196482.3_Silent_p.F3F O75467 Z324A_HUMAN zinc finger protein 324 3 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2) 16 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179) AGATGGCCTTTGAGGATGTGG 0.562000 4 106 0 0 1 0 0 PIK3R6 146850 broad.mit.edu 37 17 8722450 8722450 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:8722450T>C ENST00000311434.9 - 19 2182 c.1943A>G c.(1942-1944)aAc>aGc p.N648S PIK3R6_ENST00000434064.2_5'UTR NM_001010855.2 NP_001010855.1 Q5UE93 PI3R6_HUMAN phosphoinositide-3-kinase, regulatory subunit 6 649 platelet activation cytosol CTCTGTCACGTTGACATTCAG 0.532000 5 13 0 0 1 0 0 CYP2B7P 1556 broad.mit.edu 37 19 41450647 41450647 + RNA SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:41450647C>T ENST00000599198.1 + 0 1238 NR_001278.1 NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1) 12 CTGAGCACTGCTCTCCGTGAC 0.478000 8 168 0 0 1 0 0 PRPF40B 25766 broad.mit.edu 37 12 50037668 50037668 + Missense_Mutation SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:50037668C>A ENST00000261897.1 + 24 2916 c.2365C>A c.(2365-2367)Cct>Act p.P789T FMNL3_ENST00000335154.5_3'UTR|PRPF40B_ENST00000548825.2_Missense_Mutation_p.P823T|PRPF40B_ENST00000380281.1_Missense_Mutation_p.P802T Q6NWY9 PR40B_HUMAN PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) 802 mRNA processing|RNA splicing nuclear speck breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 TGAGACAGACCCTGAGGAGAA 0.527000 20 96 8.28177e-16 8.68412e-16 1 1 0 ABHD16B 140701 broad.mit.edu 37 20 62493327 62493327 + Missense_Mutation SNP T T A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:62493327T>A ENST00000369916.3 + 1 762 c.434T>A c.(433-435)cTg>cAg p.L145Q NM_080622.3 NP_542189.1 Q9H3Z7 ABHGB_HUMAN abhydrolase domain containing 16B 145 hydrolase activity endometrium(2)|kidney(1)|lung(3) 6 CGCGCCAAGCTGGTGGCCTGT 0.701000 16 61 0 0 1 0 0 CHIT1 1118 broad.mit.edu 37 1 203186872 203186872 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:203186872T>C ENST00000367229.1 - 10 1185 c.1151A>G c.(1150-1152)gAa>gGa p.E384G CHIT1_ENST00000255427.3_Missense_Mutation_p.E365G|CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000535569.1_Missense_Mutation_p.E375G NM_001270509.1|NM_003465.2 NP_001257438.1|NP_003456.1 Q13231 CHIT1_HUMAN chitinase 1 (chitotriosidase) 384 chitin catabolic process|immune response|response to bacterium extracellular space|lysosome cation binding|chitin binding|endochitinase activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2) 27 CTTACTCAGTTCCTGCCGTAG 0.592000 5 51 0 0 1 0 0 ZNF423 23090 broad.mit.edu 37 16 49670391 49670391 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:49670391C>T ENST00000561648.1 - 4 2725 c.2672G>A c.(2671-2673)tGt>tAt p.C891Y ZNF423_ENST00000563137.2_Missense_Mutation_p.C831Y|ZNF423_ENST00000567169.1_Missense_Mutation_p.C774Y|ZNF423_ENST00000562520.1_Missense_Mutation_p.C831Y|ZNF423_ENST00000535559.1_Missense_Mutation_p.C774Y|ZNF423_ENST00000262383.2_Missense_Mutation_p.C891Y|ZNF423_ENST00000562871.1_Missense_Mutation_p.C831Y NM_001271620.1 NP_001258549.1 Q2M1K9 ZN423_HUMAN zinc finger protein 423 891 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 89 all_cancers(37;0.0155) GGCCGCCCCACAGATGTCACA 0.622000 30 99 0 0 1 0 0 ARHGAP32 9743 broad.mit.edu 37 11 128848689 128848689 + Missense_Mutation SNP C C G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:128848689C>G ENST00000310343.9 - 18 2055 c.2056G>C c.(2056-2058)Gag>Cag p.E686Q ARHGAP32_ENST00000527272.1_Missense_Mutation_p.E337Q|ARHGAP32_ENST00000524655.1_Missense_Mutation_p.E612Q|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.E337Q NM_001142685.1 NP_001136157.1 A7KAX9 RHG32_HUMAN Rho GTPase activating protein 32 686 cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3) 60 GCTTTCATCTCTGAAGGCTCA 0.478000 18 44 0 0 1 0 0 RPS6KA1 6195 broad.mit.edu 37 1 26878180 26878180 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:26878180G>A ENST00000374168.2 + 6 588 c.434G>A c.(433-435)cGt>cAt p.R145H RPS6KA1_ENST00000374166.4_Missense_Mutation_p.R145H|RPS6KA1_ENST00000530003.1_Missense_Mutation_p.R129H|RPS6KA1_ENST00000531382.1_Missense_Mutation_p.R154H|RPS6KA1_ENST00000526792.1_Missense_Mutation_p.R53H|RPS6KA1_ENST00000374162.2_Missense_Mutation_p.R53H NM_002953.3 NP_002944.2 Q15418 KS6A1_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 1 145 Protein kinase 1. axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|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|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity lung(1) 1 all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234) GACTTCCTGCGTGGTGGGGAC 0.592000 24 71 0 0 1 0 0 TNKS1BP1 85456 broad.mit.edu 37 11 57076249 57076249 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:57076249A>G ENST00000532437.1 - 5 4247 c.3936T>C c.(3934-3936)ggT>ggC p.G1312G TNKS1BP1_ENST00000358252.3_Silent_p.G1312G Q9C0C2 TB182_HUMAN tankyrase 1 binding protein 1, 182kDa 1312 Acidic.|Gly-rich. nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_epithelial(135;0.21) CCAGATTGTTACCCCAGTCCA 0.607000 25 317 0 0 1 0 0 TRIM27 5987 broad.mit.edu 37 6 28887838 28887838 + Missense_Mutation SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:28887838A>T ENST00000377199.3 - 3 1054 c.698T>A c.(697-699)aTc>aAc p.I233N TRIM27_ENST00000377194.3_Missense_Mutation_p.I233N|TRIM27_ENST00000498117.1_5'UTR NM_006510.4 NP_006501.1 P14373 TRI27_HUMAN tripartite motif containing 27 233 cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding endometrium(1)|large_intestine(2)|lung(6)|ovary(1) 10 TAGCTGAGCGATCAGGCTGCT 0.567000 T RET papillary thyroid 44 128 0 0 1 0 0 MICAL2 9645 broad.mit.edu 37 11 12241954 12241954 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:12241954G>A ENST00000256194.4 + 9 1443 c.1155G>A c.(1153-1155)gaG>gaA p.E385E MICAL2_ENST00000527546.1_Silent_p.E385E|MICAL2_ENST00000342902.5_Silent_p.E385E|MICAL2_ENST00000537344.1_Silent_p.E385E|MICAL2_ENST00000379612.3_Silent_p.E385E NM_014632.2 NP_055447.1 O94851 MICA2_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 2 385 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 47 Epithelial(150;0.00552) TGGTGCGGGAGCGGCAGGCGC 0.587000 31 79 0 0 1 0 0 CLPTM1L 81037 broad.mit.edu 37 5 1330449 1330449 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:1330449G>A ENST00000320895.5 - 9 1283 c.1026C>T c.(1024-1026)gaC>gaT p.D342D CLPTM1L_ENST00000507807.1_Intron|CLPTM1L_ENST00000320927.6_Intron NM_030782.3 NP_110409.2 Q96KA5 CLP1L_HUMAN CLPTM1-like 342 apoptosis integral to membrane breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 24 Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09) Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181) KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208) TCGTCTGCTCGTCCAGCAGGA 0.647000 32 82 0 0 1 0 0 RSF1 51773 broad.mit.edu 37 11 77451921 77451921 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:77451921C>T ENST00000308488.6 - 4 735 c.433G>A c.(433-435)Gat>Aat p.D145N RSF1_ENST00000360355.2_Missense_Mutation_p.D114N Q96T23 RSF1_HUMAN remodeling and spacing factor 1 145 CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent RSF complex histone binding|protein binding|zinc ion binding breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152) Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31) GTATCGGCATCCTCCTCATTA 0.378000 13 47 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179498221 179498221 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:179498221T>C ENST00000589042.1 - 232 43089 c.42865A>G c.(42865-42867)Aaa>Gaa p.K14289E TTN_ENST00000460472.2_Missense_Mutation_p.K5224E|TTN_ENST00000342992.6_Missense_Mutation_p.K11721E|TTN_ENST00000591111.1_Missense_Mutation_p.K12648E|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K5349E|TTN_ENST00000342175.6_Missense_Mutation_p.K5416E|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 12648 Fibronectin type-III 3. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity 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) TCCGCCTTTTTGATTTTTAAG 0.433000 22 56 0 0 1 0 0 PCED1B 91523 broad.mit.edu 37 12 47629745 47629745 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:47629745G>A ENST00000546455.1 + 4 1630 c.899G>A c.(898-900)cGc>cAc p.R300H PCED1B_ENST00000432328.1_Missense_Mutation_p.R300H PC-esterase domain containing 1B cccacataccgccccctgctt 0.637000 16 77 0 0 1 0 0 SERPINB8 5271 broad.mit.edu 37 18 61654293 61654293 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr18:61654293G>A ENST00000397985.2 + 7 1162 c.906G>A c.(904-906)atG>atA p.M302I SERPINB8_ENST00000353706.2_Missense_Mutation_p.M302I|SERPINB8_ENST00000542677.1_Missense_Mutation_p.M120I|SERPINB8_ENST00000493661.1_Intron NM_001276490.1 NP_001263419.1 P50452 SPB8_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 8 302 regulation of proteolysis cytosol protein binding|serine-type endopeptidase inhibitor activity breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1) 17 Esophageal squamous(42;0.129) TTTCTGGAATGTCAACTGAGA 0.502000 16 59 0 0 1 0 0 WARS2 10352 broad.mit.edu 37 1 119575854 119575854 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:119575854C>T ENST00000235521.4 - 6 789 c.763G>A c.(763-765)Gtg>Atg p.V255M WARS2_ENST00000369426.5_3'UTR|WARS2_ENST00000537870.1_Missense_Mutation_p.V161M NM_015836.3|NM_201263.2 NP_056651.1|NP_957715.1 Q9UGM6 SYWM_HUMAN tryptophanyl tRNA synthetase 2, mitochondrial 255 tryptophanyl-tRNA aminoacylation mitochondrial matrix ATP binding|tryptophan-tRNA ligase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2) 15 all_neural(166;0.187) all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564) Lung(183;0.0629) L-Tryptophan(DB00150) AAGTCTGTCACAGCCTTGCGG 0.582000 13 113 0 0 1 0 0 SZT2 23334 broad.mit.edu 37 1 43900072 43900072 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:43900072G>A ENST00000562955.1 + 40 5649 c.5649G>A c.(5647-5649)gaG>gaA p.E1883E SZT2_ENST00000372442.1_Silent_p.E1041E NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 1940 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 TGATTCGGGAGGATGGGGGGC 0.557000 4 9 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152722363 152722363 + Missense_Mutation SNP A A C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:152722363A>C ENST00000367255.5 - 47 7540 c.6939T>G c.(6937-6939)atT>atG p.I2313M SYNE1_ENST00000423061.1_Missense_Mutation_p.I2320M|SYNE1_ENST00000448038.1_Missense_Mutation_p.I2320M|SYNE1_ENST00000265368.4_Missense_Mutation_p.I2313M|SYNE1_ENST00000341594.5_Missense_Mutation_p.I2350M NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 2313 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TTATGTCATTAATAAACTTCT 0.378000 HNSCC(10;0.0054) 24 60 0 0 1 0 0 CYP2A13 1553 broad.mit.edu 37 19 41597687 41597687 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:41597687A>G ENST00000330436.3 + 5 705 c.705A>G c.(703-705)caA>caG p.Q235Q NM_000766.4 NP_000757.2 Q16696 CP2AD_HUMAN cytochrome P450, family 2, subfamily A, polypeptide 13 235 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2) 42 Clomipramine(DB01242)|Nicotine(DB00184) GACCACAGCAACAGGCCTTTA 0.572000 4 89 0 0 1 0 0 TAS2R8 50836 broad.mit.edu 37 12 10959184 10959184 + Nonsense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:10959184C>T ENST00000240615.2 - 1 708 c.396G>A c.(394-396)tgG>tgA p.W132* NM_023918.1 NP_076407.1 Q9NYW2 TA2R8_HUMAN taste receptor, type 2, member 8 132 sensory perception of taste integral to membrane taste receptor activity endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 CCAGCAGGATCCAGTGCACCA 0.413000 17 72 0 0 1 0 0 CADM1 23705 broad.mit.edu 37 11 115102132 115102132 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:115102132G>A ENST00000542447.2 - 4 631 c.503C>T c.(502-504)gCt>gTt p.A168V CADM1_ENST00000331581.6_Missense_Mutation_p.A168V|CADM1_ENST00000537058.1_Missense_Mutation_p.A168V|CADM1_ENST00000536727.1_Missense_Mutation_p.A168V|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000452722.2_Missense_Mutation_p.A168V NM_001098517.1 NP_001091987.1 Q9BY67 CADM1_HUMAN cell adhesion molecule 1 168 Ig-like C2-type 1. adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity basolateral plasma membrane|cell-cell junction|integral to membrane PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1) 32 all_hematologic(175;0.0628) all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237) BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303) GCTGGCCATAGCAGTGCAGTT 0.463000 30 76 0 0 1 0 0 GMIP 51291 broad.mit.edu 37 19 19751335 19751335 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:19751335T>C ENST00000203556.4 - 5 421 c.284A>G c.(283-285)gAc>gGc p.D95G GMIP_ENST00000445806.2_Missense_Mutation_p.D95G|GMIP_ENST00000587238.1_Missense_Mutation_p.D95G NM_016573.2 NP_057657.2 Q9P107 GMIP_HUMAN GEM interacting protein 95 negative regulation of Rho GTPase activity|small GTPase mediated signal transduction cytosol metal ion binding|protein binding|Rho GTPase activator activity breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 CAGGGCTGCGTCCACACCCCC 0.572000 31 77 0 0 1 0 0 EXT2 2132 broad.mit.edu 37 11 44129281 44129281 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:44129281T>C ENST00000395673.3 + 2 174 c.118T>C c.(118-120)Tat>Cat p.Y40H EXT2_ENST00000533608.1_Missense_Mutation_p.Y7H|EXT2_ENST00000358681.4_Missense_Mutation_p.Y7H|EXT2_ENST00000343631.3_Missense_Mutation_p.Y7H NM_000401.3 NP_000392.3 Q93063 EXT2_HUMAN exostosin glycosyltransferase 2 7 glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 32 GTCGGTCAAGTATAATATCCG 0.483000 """Mis, N, F, S""" """exostoses, osteosarcoma""" Hereditary Multiple Exostoses 18 69 0 0 1 0 0 KIF2B 84643 broad.mit.edu 37 17 51900745 51900745 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:51900745G>A ENST00000268919.4 + 1 507 c.351G>A c.(349-351)gcG>gcA p.A117A NM_032559.4 NP_115948.4 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 117 blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 AATGGGTTGCGATGATCCCCC 0.597000 48 118 0 0 1 0 0 KMT2B 9757 broad.mit.edu 37 19 36210697 36210697 + Nonsense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:36210697C>T ENST00000420124.1 + 3 448 c.448C>T c.(448-450)Cga>Tga p.R150* WBP7_ENST00000341701.1_Nonsense_Mutation_p.R150*|KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000222270.7_Nonsense_Mutation_p.R150* TCGAGCGCCCCGAGGTCGGGG 0.612000 39 145 0 0 1 0 0 SP4 6671 broad.mit.edu 37 7 21521703 21521703 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:21521703G>A ENST00000222584.3 + 5 2287 c.2069G>A c.(2068-2070)cGg>cAg p.R690Q NM_003112.3 NP_003103.2 Q02446 SP4_HUMAN Sp4 transcription factor 690 regulation of transcription from RNA polymerase II promoter nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 35 AGATTCACACGGAGTGATGAG 0.363000 6 149 0 0 1 0 0 ZRANB3 84083 broad.mit.edu 37 2 135988280 135988280 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:135988280T>C ENST00000401392.1 - 13 1969 c.1757A>G c.(1756-1758)cAc>cGc p.H586R ZRANB3_ENST00000264159.6_Missense_Mutation_p.H586R|ZRANB3_ENST00000412849.1_5'UTR|ZRANB3_ENST00000536680.1_Missense_Mutation_p.H586R Q5FWF4 ZRAB3_HUMAN zinc finger, RAN-binding domain containing 3 586 intracellular ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.135) CGGACTGCAGTGGTCTTCCGA 0.493000 39 127 0 0 1 0 0 CASK 8573 broad.mit.edu 37 X 41390337 41390337 + Missense_Mutation SNP T T G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chrX:41390337T>G ENST00000318588.9 - 25 2473 c.2428A>C c.(2428-2430)Atg>Ctg p.M810L CASK_ENST00000361962.4_Missense_Mutation_p.M798L|CASK_ENST00000442742.2_Missense_Mutation_p.M787L|CASK_ENST00000378158.1_Missense_Mutation_p.M798L|CASK_ENST00000421587.2_Missense_Mutation_p.M786L|CASK_ENST00000378163.1_Missense_Mutation_p.M815L|CASK_ENST00000378166.4_Missense_Mutation_p.M810L O14936 CSKP_HUMAN calcium/calmodulin-dependent serine protein kinase (MAGUK family) 815 Guanylate kinase-like. cell adhesion actin cytoskeleton|cytoplasm|nucleus|plasma membrane ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1) 32 GTCCCATACATCGCATCCTCG 0.483000 11 64 0 0 1 0 0 SLC35D1 23169 broad.mit.edu 37 1 67507985 67507985 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:67507985A>G ENST00000235345.5 - 8 748 c.663T>C c.(661-663)taT>taC p.Y221Y SLC35D1_ENST00000506472.2_Silent_p.Y142Y NM_015139.2 NP_055954.1 Q9NTN3 S35D1_HUMAN solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1 221 chondroitin sulfate biosynthetic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process integral to endoplasmic reticulum membrane UDP-glucuronic acid transmembrane transporter activity|UDP-N-acetylgalactosamine transmembrane transporter activity endometrium(2)|kidney(1)|large_intestine(3)|lung(4) 10 Lorazepam(DB00186) GTGCATTGTAATAGAGCAGTC 0.413000 6 186 0 0 1 0 0 ACBD3 64746 broad.mit.edu 37 1 226340106 226340106 + Missense_Mutation SNP C C G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:226340106C>G ENST00000366812.5 - 7 1359 c.1305G>C c.(1303-1305)tgG>tgC p.W435C RP11-275I14.4_ENST00000440540.1_RNA NM_022735.3 NP_073572.2 Q9H3P7 GCP60_HUMAN acyl-CoA binding domain containing 3 435 GOLD. steroid biosynthetic process|transport Golgi membrane|integral to membrane|mitochondrion fatty-acyl-CoA binding|protein binding breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2) 20 Breast(184;0.158) GBM - Glioblastoma multiforme(131;0.121) GAGAGTCTGTCCATTCAAAAT 0.473000 48 148 0 0 1 0 0 SS18L1 26039 broad.mit.edu 37 20 60749635 60749635 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:60749635G>A ENST00000331758.3 + 10 1125 c.1099G>A c.(1099-1101)Gga>Aga p.G367R SS18L1_ENST00000421564.1_Missense_Mutation_p.G367R|SS18L1_ENST00000370848.4_Missense_Mutation_p.G370R NM_198935.1 NP_945173.1 O75177 CREST_HUMAN synovial sarcoma translocation gene on chromosome 18-like 1 367 Gln-rich.|Necessary for nuclear localization (By similarity). chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent condensed chromosome kinetochore SS18L1/SSX1(2) ovary(2)|skin(1) 3 Breast(26;3.97e-09) BRCA - Breast invasive adenocarcinoma(19;1.92e-08) CCAGCAGTACGGAAGCTACCG 0.632000 T SSX1 synovial sarcoma 56 189 0 0 1 0 0 CCDC13 152206 broad.mit.edu 37 3 42793489 42793489 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:42793489G>A ENST00000310232.6 - 5 625 c.542C>T c.(541-543)gCc>gTc p.A181V CCDC13_ENST00000435327.2_5'UTR NM_144719.3 NP_653320.3 Q8IYE1 CCD13_HUMAN coiled-coil domain containing 13 181 endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1) 25 GGCCCCCTTGGCTGACAGCCT 0.572000 23 93 0 0 1 0 0 RPL6 6128 broad.mit.edu 37 12 112843724 112843724 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:112843724T>C ENST00000424576.2 - 6 832 c.647A>G c.(646-648)tAc>tGc p.Y216C RPL6_ENST00000202773.9_Missense_Mutation_p.Y216C NM_001024662.1 NP_001019833.1 Q02878 RL6_HUMAN ribosomal protein L6 216 endocrine pancreas development|regulation of transcription, DNA-dependent|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit DNA binding|RNA binding|structural constituent of ribosome cervix(1)|large_intestine(6)|lung(3) 10 CTTCTTGAAGTAAGCATCAGT 0.418000 31 51 0 0 1 0 0 PRKDC 5591 broad.mit.edu 37 8 48736553 48736553 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:48736553A>G ENST00000314191.2 - 65 8841 c.8785T>C c.(8785-8787)Tat>Cat p.Y2929H PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.Y2929H NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 2930 FAT.|KIP-binding. cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) ATTGATCTATACAGCCTACAA 0.358000 Non-homologous end-joining 6 60 0 0 1 0 0 HIST1H4F 8361 broad.mit.edu 37 6 26240672 26240672 + Missense_Mutation SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:26240672G>T ENST00000377745.2 + 1 112 c.19G>T c.(19-21)Ggt>Tgt p.G7C NM_003540.3 NP_003531.1 P62805 H4_HUMAN histone cluster 1, H4f 7 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1) 5 all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167) TAGAGGCAAAGGTGGTAAAGG 0.498000 5 52 1 1 1 1 0 KRT25 147183 broad.mit.edu 37 17 38907488 38907488 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:38907488T>C ENST00000312150.4 - 4 820 c.760A>G c.(760-762)Aac>Gac p.N254D NM_181534.3 NP_853512.1 Q7Z3Z0 K1C25_HUMAN keratin 25 254 Coil 2.|Rod. cytoplasm|intermediate filament structural molecule activity endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4) 16 Breast(137;0.00526) GCTCGCATGTTGTTCAGCAGA 0.582000 21 64 0 0 1 0 0 EARS2 124454 broad.mit.edu 37 16 23546581 23546581 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:23546581G>A ENST00000449606.1 - 4 617 c.586C>T c.(586-588)Cca>Tca p.P196S EARS2_ENST00000564987.1_5'UTR|EARS2_ENST00000564501.1_Missense_Mutation_p.P196S|EARS2_ENST00000563459.1_Missense_Mutation_p.P196S|EARS2_ENST00000563232.1_Missense_Mutation_p.P196S NM_001083614.1 NP_001077083.1 Q5JPH6 SYEM_HUMAN glutamyl-tRNA synthetase 2, mitochondrial 196 glutamyl-tRNA aminoacylation mitochondrial matrix ATP binding|glutamate-tRNA ligase activity|RNA binding central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 GBM - Glioblastoma multiforme(48;0.0353) L-Glutamic Acid(DB00142) TGGAAGGCTGGCACCACCTGC 0.607000 5 79 0 0 1 0 0 ABCA13 154664 broad.mit.edu 37 7 48467465 48467465 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:48467465T>C ENST00000435803.1 + 42 12586 c.12562T>C c.(12562-12564)Tac>Cac p.Y4188H NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 4188 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 TCTGTCTGGCTACTGTAAGTA 0.448000 5 25 0 0 1 0 0 FNDC3A 22862 broad.mit.edu 37 13 49772646 49772646 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr13:49772646A>G ENST00000492622.2 + 23 3228 c.2923A>G c.(2923-2925)Act>Gct p.T975A FNDC3A_ENST00000398316.3_Missense_Mutation_p.T919A|FNDC3A_ENST00000541916.1_Missense_Mutation_p.T975A NM_001079673.1 NP_001073141.1 Q9Y2H6 FND3A_HUMAN fibronectin type III domain containing 3A 975 Fibronectin type-III 8. Golgi membrane|integral to membrane endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1) 41 all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;2.94e-09) GGGAGAAGGAACTCCAAAGAC 0.398000 23 102 0 0 1 0 0 ATP5B 506 broad.mit.edu 37 12 57037293 57037293 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:57037293C>T ENST00000262030.3 - 5 736 c.686G>A c.(685-687)gGt>gAt p.G229D ATP5B_ENST00000552919.1_Missense_Mutation_p.G229D NM_001686.3 NP_001677.2 P06576 ATPB_HUMAN ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide 229 angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 CACAGAGTAACCACCATGGGC 0.433000 32 116 0 0 1 0 0 ENTPD4 9583 broad.mit.edu 37 8 23305363 23305363 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:23305363T>C ENST00000358689.4 - 4 477 c.242A>G c.(241-243)gAc>gGc p.D81G ENTPD4_ENST00000356206.6_Missense_Mutation_p.D81G|ENTPD4_ENST00000417069.2_Missense_Mutation_p.D81G NM_001128930.2|NM_004901.4 NP_001122402.1|NP_004892.1 Q9Y227 ENTP4_HUMAN ectonucleoside triphosphate diphosphohydrolase 4 81 UDP catabolic process autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane uridine-diphosphatase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 25 Prostate(55;0.114) Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649) GTTATTGGTGTCTGTAGCTTC 0.443000 4 184 0 0 1 0 0 P2RX4 5025 broad.mit.edu 37 12 121659765 121659765 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:121659765A>G ENST00000337233.4 + 3 640 c.332A>G c.(331-333)cAg>cGg p.Q111R P2RX4_ENST00000543171.1_Missense_Mutation_p.Q10R|P2RX4_ENST00000541532.1_Missense_Mutation_p.Q111R|P2RX4_ENST00000540930.1_3'UTR|P2RX4_ENST00000359949.7_Missense_Mutation_p.Q127R NM_001261397.1|NM_001261398.1|NM_002560.2 NP_001248326.1|NP_001248327.1|NP_002551.2 Q99571 P2RX4_HUMAN purinergic receptor P2X, ligand-gated ion channel, 4 111 endothelial cell activation|negative regulation of cardiac muscle hypertrophy|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|regulation of apoptosis|regulation of blood pressure|regulation of sodium ion transport|relaxation of cardiac muscle|response to ATP|response to fluid shear stress|sensory perception of pain|tissue homeostasis cell junction|perinuclear region of cytoplasm cadherin binding|copper ion binding|extracellular ATP-gated cation channel activity|protein homodimerization activity|purinergic nucleotide receptor activity|receptor binding|zinc ion binding breast(1)|kidney(4)|large_intestine(4)|lung(7)|prostate(1) 17 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) ACCATGAACCAGACACAGGGC 0.657000 155 258 0 0 1 0 0 TBC1D31 93594 broad.mit.edu 37 8 124121584 124121584 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:124121584A>G ENST00000287380.1 + 9 1327 c.1237A>G c.(1237-1239)Aag>Gag p.K413E TBC1D31_ENST00000518805.1_Missense_Mutation_p.K46E|TBC1D31_ENST00000309336.3_Missense_Mutation_p.K413E|TBC1D31_ENST00000521676.1_Missense_Mutation_p.K308E|TBC1D31_ENST00000522420.1_Missense_Mutation_p.K308E|TBC1D31_ENST00000327098.5_Missense_Mutation_p.K413E|TBC1D31_ENST00000378080.2_Missense_Mutation_p.K308E NM_145647.3 NP_663622.2 TBC1 domain family, member 31 ATTAAACAAAAAGCGTTTACA 0.264000 4 76 0 0 1 0 0 TACR2 6865 broad.mit.edu 37 10 71164842 71164842 + Splice_Site SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:71164842T>C ENST00000373306.4 - 5 1482 c.e5-2 TACR2_ENST00000373307.1_Splice_Site NM_001057.2 NP_001048.2 P21452 NK2R_HUMAN tachykinin receptor 2 excretion|muscle contraction integral to plasma membrane tachykinin receptor activity endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 11 Clonidine(DB00575)|Octreotide(DB00104) GAGCGAAACCTGGGGGAGCGA 0.617000 16 54 0 0 1 0 0 C10orf12 26148 broad.mit.edu 37 10 98741199 98741199 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:98741199G>A ENST00000286067.2 + 1 159 c.52G>A c.(52-54)Gag>Aag p.E18K NM_015652.2 NP_056467.2 Q8N655 CJ012_HUMAN chromosome 10 open reading frame 12 18 NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4) 45 Colorectal(252;0.172) Epithelial(162;6.35e-09)|all cancers(201;3.21e-07) AATGGCAGCTGAGAATAGTGA 0.383000 15 66 0 0 1 0 0 PWP2 5822 broad.mit.edu 37 21 45540617 45540617 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr21:45540617T>C ENST00000291576.7 + 12 1570 c.1443T>C c.(1441-1443)ttT>ttC p.F481F NM_005049.2 NP_005040.2 Q15269 PWP2_HUMAN PWP2 periodic tryptophan protein homolog (yeast) 481 cytoplasm|nucleolus signal transducer activity cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1) 21 STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2) AGGACTCCTTTGAGATTTTCG 0.627000 9 101 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61815451 61815451 + Missense_Mutation SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:61815451G>T ENST00000280772.1 - 42 13221 c.13030C>A c.(13030-13032)Cat>Aat p.H4344N ANK3_ENST00000373827.2_Missense_Mutation_p.H1828N|ANK3_ENST00000503366.1_Missense_Mutation_p.H1835N|ANK3_ENST00000355288.2_Missense_Mutation_p.H968N NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 4344 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 TCTTCTTCATGGAGGCTAAGC 0.468000 81 252 1.72036e-36 1.82387e-36 1 1 0 GRXCR1 389207 broad.mit.edu 37 4 43032386 43032386 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:43032386G>A ENST00000399770.2 + 4 702 c.702G>A c.(700-702)caG>caA p.Q234Q NM_001080476.2 NP_001073945.1 A8MXD5 GRCR1_HUMAN glutaredoxin, cysteine rich 1 234 Glutaredoxin. cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development kinocilium|stereocilium electron carrier activity|protein disulfide oxidoreductase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1) 32 AGAGAGTACAGCATCCACATG 0.493000 19 90 0 0 1 0 0 WNT5A 7474 broad.mit.edu 37 3 55513547 55513547 + Silent SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:55513547A>T ENST00000474267.1 - 4 707 c.186T>A c.(184-186)atT>atA p.I62I WNT5A_ENST00000264634.4_Silent_p.I62I|WNT5A_ENST00000497027.1_Silent_p.I47I P41221 WNT5A_HUMAN wingless-type MMTV integration site family, member 5A 62 activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1) 13 KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204) GTGCTCCTATAATATATACTT 0.488000 51 125 0 0 1 0 0 SRCAP 10847 broad.mit.edu 37 16 30735661 30735661 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:30735661G>A ENST00000262518.4 + 25 5301 c.4916G>A c.(4915-4917)gGa>gAa p.G1639E SRCAP_ENST00000395059.2_Missense_Mutation_p.G1577E|SRCAP_ENST00000344771.4_Missense_Mutation_p.G1481E NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 1639 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) TCTACTCCAGGAACCTCTTTA 0.577000 39 134 0 0 1 0 0 DCAF4L1 285429 broad.mit.edu 37 4 41984194 41984194 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:41984194T>C ENST00000333141.5 + 1 482 c.385T>C c.(385-387)Tcc>Ccc p.S129P NM_001029955.3 NP_001025126.2 Q3SXM0 DC4L1_HUMAN DDB1 and CUL4 associated factor 4-like 1 129 breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1) 37 GAAGGTGAAGTCCCTGTGCTG 0.572000 44 129 0 0 1 0 0 PLCE1 51196 broad.mit.edu 37 10 95993879 95993879 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:95993879A>G ENST00000260766.3 + 6 2658 c.2024A>G c.(2023-2025)aAg>aGg p.K675R PLCE1_ENST00000371375.1_Missense_Mutation_p.K367R|PLCE1_ENST00000371385.3_Missense_Mutation_p.K367R|PLCE1_ENST00000371380.2_Missense_Mutation_p.K675R NM_016341.3 NP_057425.3 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 675 Ras-GEF. activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) AGGAGCCTGAAGGATGCTATG 0.468000 17 78 0 0 1 0 0 CEP120 153241 broad.mit.edu 37 5 122725654 122725654 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:122725654A>G ENST00000306467.5 - 8 1523 c.1219T>C c.(1219-1221)Tta>Cta p.L407L CEP120_ENST00000328236.5_Silent_p.L407L|CEP120_ENST00000306481.6_Silent_p.L381L Q8N960 CE120_HUMAN centrosomal protein 120kDa 407 centrosome breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 29 TCATACTGTAAACTTTCCACT 0.388000 4 82 0 0 1 0 0 FOXM1 2305 broad.mit.edu 37 12 2968215 2968215 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:2968215C>T ENST00000342628.2 - 10 2108 c.1995G>A c.(1993-1995)acG>acA p.T665T ITFG2_ENST00000545509.1_Intron|FOXM1_ENST00000361953.3_Silent_p.T612T|FOXM1_ENST00000359843.3_Silent_p.T627T NM_202002.2 NP_973731.1 Q08050 FOXM1_HUMAN forkhead box M1 627 cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis cytoplasm|transcription factor complex DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3) 24 OV - Ovarian serous cystadenocarcinoma(31;0.000622) TGGCTGGGGGCGTGAGCCTCC 0.592000 6 200 0 0 1 0 0 CLCNKA 1187 broad.mit.edu 37 1 16353263 16353263 + Silent SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:16353263C>A ENST00000375692.1 + 8 776 c.648C>A c.(646-648)ccC>ccA p.P216P CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000420078.1_Silent_p.P216P|CLCNKA_ENST00000331433.4_Silent_p.P216P|CLCNKA_ENST00000439316.2_Silent_p.P173P P51800 CLCKA_HUMAN chloride channel, voltage-sensitive Ka 216 excretion chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1) 19 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) Niflumic Acid(DB04552) TTGCAGCTCCCTTCAGCGGTG 0.662000 28 78 5.45727e-16 5.72372e-16 1 1 0 TCHH 7062 broad.mit.edu 37 1 152083774 152083774 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:152083774T>C ENST00000368804.1 - 2 1918 c.1919A>G c.(1918-1920)gAg>gGg p.E640G NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 640 9 X 28 AA approximate tandem repeats. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GCGCCTCTCCTCCTGCTCCTC 0.672000 55 139 0 0 1 0 0 HNRNPA1 3178 broad.mit.edu 37 12 54677727 54677727 + Missense_Mutation SNP T T A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:54677727T>A ENST00000546500.1 + 8 1498 c.883T>A c.(883-885)Tac>Aac p.Y295N RP11-968A15.8_ENST00000553061.1_RNA|HNRNPA1_ENST00000547276.1_Missense_Mutation_p.Y242N|HNRNPA1_ENST00000330752.8_Missense_Mutation_p.Y282N|HNRNPA1_ENST00000340913.6_Missense_Mutation_p.Y347N P09651 ROA1_HUMAN heterogeneous nuclear ribonucleoprotein A1 347 Gly-rich. interspecies interaction between organisms|mRNA transport|nuclear import catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm nucleotide binding|protein binding|single-stranded DNA binding endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 20 TGGAGGCCAATACTTTGCAAA 0.428000 49 91 0 0 1 0 0 OR51S1 119692 broad.mit.edu 37 11 4870327 4870327 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:4870327G>A ENST00000322101.2 - 1 187 c.112C>T c.(112-114)Ccc>Tcc p.P38S MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001004758.1 NP_001004758.1 Q8NGJ8 O51S1_HUMAN olfactory receptor, family 51, subfamily S, member 1 38 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) GCAATGAGGGGCAATGTCCAC 0.582000 26 96 0 0 1 0 0 PNRC1 10957 broad.mit.edu 37 6 89793537 89793537 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:89793537T>C ENST00000336032.3 + 2 723 c.606T>C c.(604-606)ggT>ggC p.G202G PNRC1_ENST00000369472.1_Silent_p.G17G|PNRC1_ENST00000354922.3_Silent_p.G17G NM_006813.2 NP_006804.1 Q12796 PNRC1_HUMAN proline-rich nuclear receptor coactivator 1 202 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding endometrium(1)|large_intestine(2)|lung(3) 6 all_cancers(76;3.64e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527) BRCA - Breast invasive adenocarcinoma(108;0.102) TTGTTCATGGTATACACTTGT 0.348000 Multiple Myeloma(7;0.094) 10 42 0 0 1 0 0 BIRC6 57448 broad.mit.edu 37 2 32640742 32640742 + Missense_Mutation SNP A A C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:32640742A>C ENST00000421745.2 + 10 2517 c.2383A>C c.(2383-2385)Aat>Cat p.N795H NM_016252.3 NP_057336.3 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 795 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) GAATGGTGCAAATATTAGTGT 0.363000 58 70 0 0 1 0 0 WNK1 65125 broad.mit.edu 37 12 994688 994688 + Missense_Mutation SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:994688C>A ENST00000537687.1 + 19 6141 c.5498C>A c.(5497-5499)cCa>cAa p.P1833Q WNK1_ENST00000530271.2_Missense_Mutation_p.P2071Q|WNK1_ENST00000340908.4_Missense_Mutation_p.P1166Q|WNK1_ENST00000535572.1_Missense_Mutation_p.P1326Q|WNK1_ENST00000315939.6_Missense_Mutation_p.P1573Q NM_001184985.1|NM_213655.4 NP_001171914.1|NP_998820.3 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 1573 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 104 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) TTGGTCATTCCATCAGTGATA 0.493000 234 406 7.40589e-125 7.8644e-125 1 1 0 UGT2A1 10941 broad.mit.edu 37 4 70455168 70455168 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:70455168A>G ENST00000503640.1 - 6 1561 c.1506T>C c.(1504-1506)gcT>gcC p.A502A UGT2A1_ENST00000514019.1_Silent_p.A668A|UGT2A2_ENST00000457664.2_Silent_p.A511A|UGT2A1_ENST00000512704.1_Silent_p.A458A|UGT2A1_ENST00000286604.4_Silent_p.A502A NM_006798.3 NP_006789.2 Q9Y4X1 UD2A1_HUMAN UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus 502 detection of chemical stimulus|sensory perception of smell integral to membrane glucuronosyltransferase activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2) 30 CCAAAAATATAGCCGTTGTCA 0.403000 4 91 0 0 1 0 0 TEX264 51368 broad.mit.edu 37 3 51708450 51708450 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:51708450C>T ENST00000415259.1 + 2 1211 c.130C>T c.(130-132)Cgc>Tgc p.R44C TEX264_ENST00000395057.1_Missense_Mutation_p.R44C|TEX264_ENST00000341333.5_Missense_Mutation_p.R44C|TEX264_ENST00000416589.1_Missense_Mutation_p.R44C|TEX264_ENST00000457573.1_Missense_Mutation_p.R44C Q9Y6I9 TX264_HUMAN testis expressed 264 44 extracellular region NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2) 7 BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759) ACCCCCCATCCGCAACGTCAC 0.607000 26 102 0 0 1 0 0 AREL1 9870 broad.mit.edu 37 14 75142422 75142422 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:75142422A>G ENST00000356357.4 - 8 1575 c.1060T>C c.(1060-1062)Tac>Cac p.Y354H AREL1_ENST00000557401.1_5'UTR NM_001039479.1 NP_001034568.1 apoptosis resistant E3 ubiquitin protein ligase 1 ACATAGCAGTACACCTTCTTC 0.507000 33 690 0 0 1 0 0 POGLUT1 56983 broad.mit.edu 37 3 119205681 119205681 + Splice_Site SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:119205681A>G ENST00000295588.4 + 7 724 c.638_splice c.e7-1 p.T214_splice NM_152305.2 NP_689518.1 Q8NBL1 PGLT1_HUMAN protein O-glucosyltransferase 1 214 endoplasmic reticulum lumen UDP-glucosyltransferase activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1) 16 CTTTTATAGGACAAGTCCAGA 0.423000 4 221 0 0 1 0 0 SOGA2 23255 broad.mit.edu 37 18 8720430 8720430 + Missense_Mutation SNP A A G rs115239581 by1000genomes TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr18:8720430A>G ENST00000359865.3 + 4 435 c.293A>G c.(292-294)cAg>cGg p.Q98R SOGA2_ENST00000400050.3_Missense_Mutation_p.Q98R|SOGA2_ENST00000306329.11_Missense_Mutation_p.Q458R|SOGA2_ENST00000517570.1_Missense_Mutation_p.Q98R|SOGA2_ENST00000306285.7_5'UTR NM_015210.3 NP_056025.2 Q9Y4B5 CC165_HUMAN SOGA family member 2 449 ACTCTCCGACAGCAGATGATT 0.488000 10 86 0 0 1 0 0 CNST 163882 broad.mit.edu 37 1 246784753 246784753 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:246784753A>G ENST00000366513.4 + 3 671 c.402A>G c.(400-402)gcA>gcG p.A134A CNST_ENST00000366512.3_Silent_p.A134A|CNST_ENST00000483271.1_3'UTR NM_152609.2 NP_689822.2 Q6PJW8 CNST_HUMAN consortin, connexin sorting protein 134 positive regulation of Golgi to plasma membrane protein transport integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle connexin binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2) 28 GAGATATTGCACCTTTAATGC 0.373000 81 224 0 0 1 0 0 FAM83H 286077 broad.mit.edu 37 8 144810789 144810789 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:144810789G>A ENST00000388913.3 - 5 967 c.842C>T c.(841-843)tCc>tTc p.S281F NM_198488.3 NP_940890.3 Q6ZRV2 FA83H_HUMAN family with sequence similarity 83, member H 281 biomineral tissue development central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1) 21 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) AAGCGGCTCGGACTGCGCGAA 0.682000 10 45 0 0 1 0 0 AFG3L2 10939 broad.mit.edu 37 18 12340360 12340360 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr18:12340360T>C ENST00000269143.3 - 15 2051 c.1820A>G c.(1819-1821)cAg>cGg p.Q607R NM_006796.2 NP_006787.2 Q9Y4W6 AFG32_HUMAN AFG3-like AAA ATPase 2 607 cell death|protein catabolic process|proteolysis integral to membrane ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1) 27 Adenosine triphosphate(DB00171) TGGTAAATACTGAGCATAACC 0.403000 12 134 0 0 1 0 0 IQGAP3 128239 broad.mit.edu 37 1 156513971 156513971 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:156513971C>T ENST00000361170.2 - 21 2443 c.2433G>A c.(2431-2433)ctG>ctA p.L811L NM_178229.4 NP_839943.2 Q86VI3 IQGA3_HUMAN IQ motif containing GTPase activating protein 3 811 IQ 3. small GTPase mediated signal transduction intracellular calmodulin binding|Ras GTPase activator activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3) 75 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GCAGACGCCTCAGGTATTGCC 0.587000 56 136 0 0 1 0 0 TXNRD2 10587 broad.mit.edu 37 22 19864630 19864630 + Nonstop_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr22:19864630A>G ENST00000400519.1 - 17 1569 c.1570T>C c.(1570-1572)Taa>Caa p.*524Q TXNRD2_ENST00000400518.1_Nonstop_Mutation_p.*495Q|TXNRD2_ENST00000400525.1_Nonstop_Mutation_p.*502Q|TXNRD2_ENST00000535882.1_3'UTR|TXNRD2_ENST00000542719.1_3'UTR|TXNRD2_ENST00000400521.1_Nonstop_Mutation_p.*525Q Q9NNW7 TRXR2_HUMAN thioredoxin reductase 2 0 cell redox homeostasis|response to oxygen radical mitochondrion flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2) 30 Colorectal(54;0.0993) GATGGCGCTTACCCTCAGCAG 0.662000 3 33 0 0 1 0 0 ZNF92 168374 broad.mit.edu 37 7 64853808 64853808 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:64853808A>G ENST00000328747.7 + 3 419 c.220A>G c.(220-222)Acc>Gcc p.T74A ZNF92_ENST00000450302.2_Missense_Mutation_p.T5A|ZNF92_ENST00000357512.2_Intron|ZNF92_ENST00000431504.1_Intron NM_152626.2 NP_689839.1 Q03936 ZNF92_HUMAN zinc finger protein 92 74 KRAB. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1) 13 Lung NSC(55;0.159) GGTAGACAAAACCCCAGGTAG 0.438000 5 132 0 0 1 0 0 KDM8 79831 broad.mit.edu 37 16 27221930 27221930 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:27221930A>G ENST00000286096.4 + 2 659 c.486A>G c.(484-486)caA>caG p.Q162Q KDM8_ENST00000380948.2_Silent_p.Q162Q|KDM8_ENST00000441782.2_Silent_p.Q200Q|KDM8_ENST00000568965.1_Silent_p.Q162Q NM_024773.2 NP_079049.2 Q8N371 KDM8_HUMAN lysine (K)-specific demethylase 8 162 G2/M transition of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus chromatin binding|histone demethylase activity (H3-K36 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen TCCCAGAGCAACCCTGCACAA 0.582000 10 46 0 0 1 0 0 DNAH1 25981 broad.mit.edu 37 3 52425582 52425582 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:52425582A>G ENST00000420323.2 + 63 10276 c.10015A>G c.(10015-10017)Acc>Gcc p.T3339A NM_015512.4 NP_056327.4 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 3404 AAA 5 (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CGAGATCTCCACCAAACTCAC 0.607000 21 49 0 0 1 0 0 FMNL1 752 broad.mit.edu 37 17 43322408 43322408 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:43322408T>C ENST00000331495.3 + 21 2997 c.2661T>C c.(2659-2661)atT>atC p.I887I FMNL1_ENST00000328118.3_Silent_p.I887I|FMNL1_ENST00000587489.1_Silent_p.I465I NM_005892.3 NP_005883.2 O95466 FMNL_HUMAN formin-like 1 887 FH2. actin cytoskeleton organization actin binding|Rho GTPase binding biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2) 33 TGAAGGTCATTGCTGAGAAGT 0.577000 8 103 0 0 1 0 0 RBM4B 83759 broad.mit.edu 37 11 66436573 66436573 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:66436573T>C ENST00000525754.1 - 2 1270 c.602A>G c.(601-603)tAc>tGc p.Y201C RBM4B_ENST00000524637.1_3'UTR|RBM4B_ENST00000310046.4_Missense_Mutation_p.Y201C|RBM4B_ENST00000531969.1_Intron Q9BQ04 RBM4B_HUMAN RNA binding motif protein 4B 201 Interaction with TNPO3 (By similarity). circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|RNA splicing nucleolus nucleotide binding|RNA binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(4)|lung(1)|urinary_tract(2) 10 GCCCATGGTGTAAGGTGTTCG 0.502000 4 84 0 0 1 0 0 MIB1 57534 broad.mit.edu 37 18 19359503 19359503 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr18:19359503T>C ENST00000261537.6 + 6 1029 c.765T>C c.(763-765)gaT>gaC p.D255D MIB1_ENST00000578646.1_3'UTR NM_020774.2 NP_065825.1 Q86YT6 MIB1_HUMAN mindbomb E3 ubiquitin protein ligase 1 255 Notch signaling pathway centrosome|nuclear membrane|plasma membrane ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5) 27 STAD - Stomach adenocarcinoma(5;0.212) TAAATATAGATCTCGACCTCG 0.418000 4 196 0 0 1 0 0 MSH6 2956 broad.mit.edu 37 2 48026783 48026783 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:48026783G>A ENST00000234420.4 + 4 1813 c.1661G>A c.(1660-1662)cGt>cAt p.R554H MSH6_ENST00000538136.1_Missense_Mutation_p.R252H|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Missense_Mutation_p.R424H NM_000179.2 NP_000170.1 P52701 MSH6_HUMAN mutS homolog 6 554 determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes MutSalpha complex ATP binding|DNA-dependent ATPase activity|protein binding p.0?(2) breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 229 Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) GGCCATACTCGTGCATATGGT 0.423000 """Mis, N, F, S""" colorectal """colorectal, endometrial, ovarian""" Mismatch excision repair (MMR) Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 46 93 0 0 1 0 0 GRIA1 2890 broad.mit.edu 37 5 153085393 153085393 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:153085393C>T ENST00000285900.5 + 11 1932 c.1589C>T c.(1588-1590)tCc>tTc p.S530F GRIA1_ENST00000521843.2_Missense_Mutation_p.S461F|GRIA1_ENST00000518783.1_Missense_Mutation_p.S540F|GRIA1_ENST00000448073.4_Missense_Mutation_p.S540F|GRIA1_ENST00000340592.5_Missense_Mutation_p.S530F|GRIA1_ENST00000518142.1_Missense_Mutation_p.S450F NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 530 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) GGTGTCTTCTCCTTCCTTGAT 0.438000 49 134 0 0 1 0 0 MUC3A 4584 broad.mit.edu 37 7 100609603 100609603 + Missense_Mutation SNP G G C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:100609603G>C ENST00000319509.7 + 8 2335 c.2335G>C c.(2335-2337)Gcg>Ccg p.A779P RP11-395B7.2_ENST00000420080.1_RNA mucin 3A, cell surface associated breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 CCACTGGAGGGCGCTGGTCGG 0.741000 3 14 0 0 1 0 0 ZNF385D 79750 broad.mit.edu 37 3 21478595 21478595 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:21478595G>A ENST00000281523.2 - 5 1058 c.540C>T c.(538-540)agC>agT p.S180S ZNF385D_ENST00000494118.1_5'UTR NM_024697.2 NP_078973.1 Q9H6B1 Z385D_HUMAN zinc finger protein 385D 180 Thr-rich. nucleus nucleic acid binding|zinc ion binding NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4) 46 CTGTCGTTGGGCTTTTTTCCA 0.473000 26 121 0 0 1 0 0 CIR1 9541 broad.mit.edu 37 2 175213789 175213789 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:175213789G>A ENST00000342016.3 - 10 881 c.789C>T c.(787-789)tcC>tcT p.S263S CIR1_ENST00000362053.5_3'UTR NM_004882.3 NP_004873.3 Q86X95 CIR1_HUMAN corepressor interacting with RBPJ, 1 263 Lys/Ser-rich. mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing nuclear speck protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1) 15 aggaggaggaggaagatgagg 0.338000 4 14 0 0 1 0 0 ANKIB1 54467 broad.mit.edu 37 7 91948721 91948721 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:91948721A>G ENST00000265742.3 + 4 940 c.564A>G c.(562-564)caA>caG p.Q188Q NM_019004.1 NP_061877.1 Q9P2G1 AKIB1_HUMAN ankyrin repeat and IBR domain containing 1 188 protein binding|zinc ion binding cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1) 41 all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692) STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) CTGAAAAGCAACACCACAAAG 0.368000 3 75 0 0 1 0 0 MBNL3 55796 broad.mit.edu 37 X 131526279 131526279 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chrX:131526279G>A ENST00000538204.1 - 3 341 c.276C>T c.(274-276)ctC>ctT p.L92L MBNL3_ENST00000370844.1_Silent_p.L46L|MBNL3_ENST00000394311.2_Silent_p.L46L|MBNL3_ENST00000370857.3_Silent_p.L142L|RP5-842K24.2_ENST00000421483.1_RNA|MBNL3_ENST00000473364.1_5'UTR|MBNL3_ENST00000370839.3_Silent_p.L142L|MBNL3_ENST00000370849.3_Silent_p.L92L|RP5-842K24.2_ENST00000441399.1_RNA|MBNL3_ENST00000370853.3_Silent_p.L142L NM_001170702.1 NP_001164173.1 Q9NUK0 MBNL3_HUMAN muscleblind-like splicing regulator 3 142 mRNA processing|multicellular organismal development|regulation of RNA splicing|RNA splicing Golgi apparatus|nucleus nucleic acid binding|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|prostate(2) 16 Acute lymphoblastic leukemia(192;0.000127) CTGCAGGAACGAGGCCCATCC 0.463000 28 29 0 0 1 0 0 NEURL1 9148 broad.mit.edu 37 10 105330708 105330708 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:105330708C>T ENST00000369780.4 + 2 574 c.165C>T c.(163-165)agC>agT p.S55S NEURL_ENST00000369777.2_Silent_p.S38S NM_004210.4 NP_004201.3 O76050 NEU1A_HUMAN 55 nervous system development perinuclear region of cytoplasm zinc ion binding p.S55S(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 17 Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125) TGCTGCCCAGCGGGGGGCTCC 0.652000 74 234 0 0 1 0 0 PCDHB6 56130 broad.mit.edu 37 5 140531261 140531261 + Missense_Mutation SNP G G A rs17844436 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:140531261G>A ENST00000231136.1 + 1 1423 c.1423G>A c.(1423-1425)Gac>Aac p.D475N PCDHB6_ENST00000543635.1_Missense_Mutation_p.D339N NM_018939.2 NP_061762.1 Q9Y5E3 PCDB6_HUMAN 475 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 84 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CAGCGCCACAGACAGAGACTC 0.637000 30 333 0 0 1 0 0 HNRNPH1 3187 broad.mit.edu 37 5 179044053 179044053 + Splice_Site SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:179044053G>A ENST00000356731.5 - 9 2651 c.1117_splice c.e9+1 p.Y372_splice HNRNPH1_ENST00000511300.2_Silent_p.Y102Y|HNRNPH1_ENST00000510411.1_Silent_p.Y372Y|HNRNPH1_ENST00000442819.2_Splice_Site_p.Y372_splice|HNRNPH1_ENST00000393432.4_Splice_Site_p.Y372_splice|HNRNPH1_ENST00000329433.6_Splice_Site_p.Y372_splice P31943 HNRH1_HUMAN heterogeneous nuclear ribonucleoprotein H1 (H) 372 2 X 16 AA Gly-rich approximate repeats.|2 X 19 AA perfect repeats. regulation of RNA splicing actin cytoskeleton|catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|poly(U) RNA binding|protein binding breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1) 14 TTTGGCTACCGTAAGCACCAC 0.373000 4 128 0 0 1 0 0 KCTD11 147040 broad.mit.edu 37 17 7256424 7256424 + Missense_Mutation SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:7256424G>T ENST00000333751.3 + 1 1217 c.163G>T c.(163-165)Gcg>Tcg p.A55S RP11-542C16.1_ENST00000572417.1_RNA NM_001002914.2 NP_001002914.1 Q693B1 KCD11_HUMAN potassium channel tetramerization domain containing 11 55 cell cycle|regulation of growth voltage-gated potassium channel complex voltage-gated potassium channel activity kidney(1)|large_intestine(2)|lung(1) 4 Prostate(122;0.157) CGGAGAGACAGCGCTGCTCAG 0.667000 13 44 4.36969e-10 4.52622e-10 1 1 0 MGAM 8972 broad.mit.edu 37 7 141736759 141736759 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:141736759C>T ENST00000475668.2 + 18 2267 c.2213C>T c.(2212-2214)gCc>gTc p.A738V MGAM_ENST00000549489.2_Missense_Mutation_p.A738V O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 738 Maltase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) GACACGGTGGCCAGGCCCCTT 0.443000 64 219 0 0 1 0 0 COL6A2 1292 broad.mit.edu 37 21 47552155 47552155 + Missense_Mutation SNP G G A rs145381639 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr21:47552155G>A ENST00000300527.4 + 28 2853 c.2749G>A c.(2749-2751)Gtg>Atg p.V917M NM_001849.3 NP_001840.3 P12110 CO6A2_HUMAN collagen, type VI, alpha 2 917 Nonhelical region.|VWFA 3. axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 43 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) CTTCTCGCACGTGGGCGCAGG 0.682000 6 10 0 0 1 0 0 TLX2 3196 broad.mit.edu 37 2 74742952 74742952 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:74742952A>G ENST00000233638.7 + 2 916 c.593A>G c.(592-594)gAc>gGc p.D198G NM_016170.4 NP_057254.1 O43763 TLX2_HUMAN T-cell leukemia homeobox 2 198 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|ovary(1) 2 CGCATGACCGACGCACAGGTC 0.692000 10 39 0 0 1 0 0 NAV3 89795 broad.mit.edu 37 12 78362385 78362385 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:78362385T>C ENST00000397909.2 + 5 747 c.574T>C c.(574-576)Tac>Cac p.Y192H NAV3_ENST00000536525.2_Missense_Mutation_p.Y192H|NAV3_ENST00000228327.6_Missense_Mutation_p.Y192H|NAV3_ENST00000266692.7_Missense_Mutation_p.Y192H Q8IVL0 NAV3_HUMAN neuron navigator 3 192 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 TCAACAACAGTACTATCAGTC 0.448000 HNSCC(70;0.22) 6 85 0 0 1 0 0 ZNF777 27153 broad.mit.edu 37 7 149129494 149129494 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:149129494T>C ENST00000247930.4 - 6 2192 c.1869A>G c.(1867-1869)tcA>tcG p.S623S NM_015694.2 NP_056509.2 Q9ULD5 ZN777_HUMAN zinc finger protein 777 623 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1) 26 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) CAGAGCTGGGTGACTTGGGAC 0.667000 9 271 0 0 1 0 0 KIAA0319L 79932 broad.mit.edu 37 1 35920007 35920007 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:35920007A>G ENST00000325722.3 - 11 1970 c.1736T>C c.(1735-1737)aTa>aCa p.I579T KIAA0319L_ENST00000373266.4_Missense_Mutation_p.I16T|KIAA0319L_ENST00000485551.1_5'UTR NM_024874.4 NP_079150.3 Q8IZA0 K319L_HUMAN KIAA0319-like 579 PKD 3. cytoplasmic vesicle part|integral to membrane protein binding breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1) 34 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) CTGCTGTCCTATTGTGTCAGT 0.473000 20 63 0 0 1 0 0 MRGPRX3 117195 broad.mit.edu 37 11 18159410 18159410 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:18159410A>G ENST00000396275.2 + 3 1022 c.661A>G c.(661-663)Aca>Gca p.T221A NM_054031.3 NP_473372.3 Q96LB0 MRGX3_HUMAN MAS-related GPR, member X3 221 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 CATCCTCCTCACAGTGCTGGT 0.552000 27 77 0 0 1 0 0 UGT2B28 54490 broad.mit.edu 37 4 70156348 70156348 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:70156348G>A ENST00000335568.5 + 5 1131 c.1129G>A c.(1129-1131)Gcc>Acc p.A377T UGT2B28_ENST00000511240.1_Intron NM_053039.1 NP_444267.1 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B28 377 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 Flunitrazepam(DB01544) TCATGGTGGAGCCAATGGCAT 0.398000 7 180 0 0 1 0 0 POLR1A 25885 broad.mit.edu 37 2 86305002 86305002 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:86305002T>C ENST00000263857.6 - 11 1738 c.1360A>G c.(1360-1362)Aac>Gac p.N454D POLR1A_ENST00000409681.1_Missense_Mutation_p.N454D O95602 RPA1_HUMAN polymerase (RNA) I polypeptide A, 194kDa 454 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 63 CCAATTTCGTTGGTGTTGATG 0.542000 44 130 0 0 1 0 0 NF1 4763 broad.mit.edu 37 17 29527540 29527540 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:29527540C>T ENST00000358273.4 + 9 1372 c.989C>T c.(988-990)gCa>gTa p.A330V NF1_ENST00000356175.3_Missense_Mutation_p.A330V|NF1_ENST00000431387.4_Missense_Mutation_p.A330V NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 330 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(6) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) CTGTGTAAAGCAAGTACTTAC 0.413000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 20 74 0 0 1 0 0 IL17RC 84818 broad.mit.edu 37 3 9972629 9972629 + Splice_Site SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:9972629T>C ENST00000295981.3 + 16 1818 c.e16+2 IL17RC_ENST00000498214.1_Splice_Site|IL17RC_ENST00000383812.4_Splice_Site|IL17RC_ENST00000455057.1_Splice_Site|IL17RC_ENST00000416074.2_Splice_Site|IL17RC_ENST00000403601.3_Splice_Site|IL17RC_ENST00000413608.1_Splice_Site NM_153461.3 NP_703191.1 Q8NAC3 I17RC_HUMAN interleukin 17 receptor C integral to membrane|plasma membrane receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 TGGACAAATGTGAGTATTGTA 0.522000 55 147 0 0 1 0 0 SIK3 23387 broad.mit.edu 37 11 116719879 116719879 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:116719879G>A ENST00000375300.1 - 21 3637 c.3632C>T c.(3631-3633)gCc>gTc p.A1211V SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000542607.1_Missense_Mutation_p.A1093V|SIK3_ENST00000375288.1_Missense_Mutation_p.A488V|SIK3_ENST00000446921.2_Missense_Mutation_p.A1151V|SIK3_ENST00000292055.4_Missense_Mutation_p.A1153V|SIK3_ENST00000434315.2_Missense_Mutation_p.A992V|AP006216.12_ENST00000444200.1_RNA Q9Y2K2 SIK3_HUMAN SIK family kinase 3 1153 cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 57 TCTCTGGAGGGCCCGGGGCCT 0.597000 44 97 0 0 1 0 0 KHDC3L 154288 broad.mit.edu 37 6 74073402 74073402 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:74073402G>A ENST00000370367.3 + 3 526 c.473G>A c.(472-474)cGt>cAt p.R158H NM_001017361.2 NP_001017361.1 KH domain containing 3-like, subcortical maternal complex member GGGACCCAGCGTTCGGTGGAA 0.672000 31 70 0 0 1 0 0 CHD6 84181 broad.mit.edu 37 20 40065975 40065975 + Splice_Site SNP C C G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:40065975C>G ENST00000373233.3 - 27 4185 c.e27-1 CHD6_ENST00000309279.7_Intron NM_032221.3 NP_115597.3 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding p.?(1) breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) TGTGTTGCCTCTAAATAAAAG 0.398000 16 40 0 0 1 0 0 SH2B1 25970 broad.mit.edu 37 16 28880417 28880417 + Splice_Site SNP G G C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:28880417G>C ENST00000337120.5 + 3 4423 c.1133_splice c.e3+1 p.G378_splice SH2B1_ENST00000545570.1_Splice_Site_p.G68_splice|SH2B1_ENST00000538342.1_Splice_Site_p.G42_splice|SH2B1_ENST00000359285.5_Splice_Site_p.G378_splice|SH2B1_ENST00000322610.8_Splice_Site_p.G378_splice|SH2B1_ENST00000395532.4_Splice_Site_p.G378_splice|SH2B1_ENST00000563674.1_Intron NM_001145812.1|NM_015503.2 NP_001139284.1|NP_056318.2 Q9NRF2 SH2B1_HUMAN SH2B adaptor protein 1 378 Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity). blood coagulation|intracellular signal transduction cytosol|membrane|nucleus signal transducer activity p.G378*(2) endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 CCTGAGCCCAGGGTGAGAAGC 0.562000 6 120 0 0 1 0 0 HLA-F 3134 broad.mit.edu 37 6 29693278 29693278 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:29693278T>C ENST00000440587.2 + 5 946 c.587T>C c.(586-588)gTc>gCc p.V196A HLA-F_ENST00000376861.1_Missense_Mutation_p.V314A|HLA-F_ENST00000259951.7_Missense_Mutation_p.V314A|HLA-F_ENST00000334668.4_Missense_Mutation_p.V314A|HLA-F_ENST00000475996.1_3'UTR|HLA-F_ENST00000434407.2_Missense_Mutation_p.V222A P30511 HLAF_HUMAN major histocompatibility complex, class I, F 314 Alpha-2. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex MHC class I receptor activity cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 8 GGCCTTGTTGTCCTTGGAGCT 0.587000 56 179 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77618583 77618583 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:77618583G>A ENST00000521891.2 + 2 2708 c.2260G>A c.(2260-2262)Gga>Aga p.G754R ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.G754R|ZFHX4_ENST00000455469.2_Missense_Mutation_p.G754R|ZFHX4_ENST00000050961.6_Missense_Mutation_p.G754R NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 754 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) CAGTGGCTGCGGAACACCCTC 0.527000 HNSCC(33;0.089) 20 36 0 0 1 0 0 COPB2 9276 broad.mit.edu 37 3 139077983 139077983 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:139077983T>C ENST00000333188.5 - 19 2522 c.2341A>G c.(2341-2343)Aat>Gat p.N781D COPB2_ENST00000507777.1_Missense_Mutation_p.N752D NM_004766.2 NP_004757.1 P35606 COPB2_HUMAN coatomer protein complex, subunit beta 2 (beta prime) 781 COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol protein binding|structural molecule activity breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 24 GCTTTCTGATTGACTTTTGAG 0.398000 21 83 0 0 1 0 0 MIOS 54468 broad.mit.edu 37 7 7612634 7612634 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:7612634A>G ENST00000340080.4 + 4 949 c.528A>G c.(526-528)aaA>aaG p.K176K MIOS_ENST00000405785.1_Silent_p.K176K NM_019005.3 NP_061878.3 Q9NXC5 MIO_HUMAN missing oocyte, meiosis regulator, homolog (Drosophila) 176 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 TAGTAACAAAACCACTTTATG 0.388000 13 40 0 0 1 0 0 MAP3K4 4216 broad.mit.edu 37 6 161519378 161519378 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:161519378C>T ENST00000392142.4 + 17 3741 c.3593C>T c.(3592-3594)gCt>gTt p.A1198V MAP3K4_ENST00000348824.7_Intron|MAP3K4_ENST00000366920.2_Missense_Mutation_p.A1194V|MAP3K4_ENST00000366919.2_Intron NM_005922.2 NP_005913.2 Q9Y6R4 M3K4_HUMAN mitogen-activated protein kinase kinase kinase 4 1198 Poly-Ala. activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1) 77 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) gctgctgctgctgctgttgct 0.597000 83 210 0 0 1 0 0 SCUBE1 80274 broad.mit.edu 37 22 43687081 43687081 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr22:43687081T>C ENST00000360835.3 - 4 581 c.455A>G c.(454-456)aAc>aGc p.N152S SCUBE1_ENST00000290460.7_Missense_Mutation_p.N152S NM_173050.3 NP_766638.2 Q8IWY4 SCUB1_HUMAN signal peptide, CUB domain, EGF-like 1 152 EGF-like 3; calcium-binding (Potential). adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization external side of plasma membrane|extracellular space|extrinsic to plasma membrane calcium ion binding|identical protein binding|protein heterodimerization activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_neural(38;0.0414)|Ovarian(80;0.07) GGTATGCTGGTTGTCACTAAG 0.582000 6 15 0 0 1 0 0 TRBV7-4 28594 broad.mit.edu 37 7 142176399 142176399 + RNA SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:142176399C>T ENST00000390369.2 - 0 276 AGAGTGGAGACGGATCTCTCA 0.582000 21 68 0 0 1 0 0 OR5D13 390142 broad.mit.edu 37 11 55541364 55541364 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:55541364T>C ENST00000361760.1 + 1 451 c.451T>C c.(451-453)Tat>Cat p.Y151H NM_001001967.1 NP_001001967.1 Q8NGL4 OR5DD_HUMAN olfactory receptor, family 5, subfamily D, member 13 151 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1) 40 all_epithelial(135;0.196) GGCTGGGTCCTATACATGGGG 0.423000 63 163 0 0 1 0 0 KIAA1430 57587 broad.mit.edu 37 4 186111712 186111712 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:186111712A>G ENST00000458385.2 - 2 758 c.639T>C c.(637-639)ggT>ggC p.G213G KIAA1430_ENST00000514798.1_Silent_p.G213G|KIAA1430_ENST00000296775.6_Silent_p.G213G NM_020827.1 NP_065878.1 Q9P2B7 K1430_HUMAN KIAA1430 213 Ser-rich. endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1) 11 all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243) all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165) GGAGGGTTATACCAGATACAT 0.418000 6 33 0 0 1 0 0 TEKT1 83659 broad.mit.edu 37 17 6703349 6703349 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:6703349G>A ENST00000338694.2 - 8 1383 c.1254C>T c.(1252-1254)tgC>tgT p.C418C TEKT1_ENST00000535086.1_Silent_p.C272C NM_053285.1 NP_444515.1 Q969V4 TEKT1_HUMAN tektin 1 418 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1) 20 Myeloproliferative disorder(207;0.0255) CCTACTATTAGCAGACAGCAT 0.527000 43 137 0 0 1 0 0 SLC4A11 83959 broad.mit.edu 37 20 3210407 3210407 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:3210407T>C ENST00000380059.3 - 14 1735 c.1634A>G c.(1633-1635)tAc>tGc p.Y545C SLC4A11_ENST00000474451.1_Intron|SLC4A11_ENST00000380056.3_Missense_Mutation_p.Y518C|SLC4A11_ENST00000539553.1_Missense_Mutation_p.Y502C NM_001174090.1 NP_001167561.1 Q8NBS3 S4A11_HUMAN solute carrier family 4, sodium borate transporter, member 11 518 Membrane (bicarbonate transporter). cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system basolateral plasma membrane|integral to membrane bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity p.Y518C(1)|p.Y545C(1) breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1) 40 ATGCCCATAGTAGTACTTCCA 0.597000 26 96 0 0 1 0 0 IRS2 8660 broad.mit.edu 37 13 110434506 110434506 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr13:110434506C>T ENST00000375856.3 - 1 4409 c.3895G>A c.(3895-3897)Gtc>Atc p.V1299I NM_003749.2 NP_003740.2 Q9Y4H2 IRS2_HUMAN insulin receptor substrate 2 1299 fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus cytosol|plasma membrane insulin receptor binding|signal transducer activity kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 19 all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155) Breast(118;0.159) all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147) GTGCTGCCGACGCCCACAGCG 0.726000 11 18 0 0 1 0 0 CDCA2 157313 broad.mit.edu 37 8 25365243 25365243 + Silent SNP A A C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:25365243A>C ENST00000330560.3 + 15 3538 c.3061A>C c.(3061-3063)Aga>Cga p.R1021R CDCA2_ENST00000521098.2_3'UTR|CDCA2_ENST00000380665.3_Silent_p.R1006R NM_152562.2 NP_689775.2 Q69YH5 CDCA2_HUMAN cell division cycle associated 2 1021 cell division|mitosis cytoplasm|nucleus breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3) 35 all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191) UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443) TAATGGAGAAAGAAAGCAGTA 0.453000 26 114 0 0 1 0 0 SLC44A3 126969 broad.mit.edu 37 1 95322958 95322958 + Missense_Mutation SNP G G C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:95322958G>C ENST00000271227.6 + 10 1242 c.1140G>C c.(1138-1140)tgG>tgC p.W380C SLC44A3_ENST00000529450.1_Missense_Mutation_p.W348C|SLC44A3_ENST00000446120.2_Missense_Mutation_p.W344C|SLC44A3_ENST00000532427.1_Missense_Mutation_p.W300C|SLC44A3_ENST00000527077.1_Missense_Mutation_p.W312C|SLC44A3_ENST00000467909.1_Missense_Mutation_p.W332C|SLC44A3_ENST00000530397.1_3'UTR NM_001114106.2|NM_001258340.1|NM_001258341.1 NP_001107578.1|NP_001245269.1|NP_001245270.1 Q8N4M1 CTL3_HUMAN solute carrier family 44, member 3 380 integral to membrane|plasma membrane choline transmembrane transporter activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1) 23 all_lung(203;0.000712)|Lung NSC(277;0.00316) all cancers(265;0.039)|Epithelial(280;0.124) Choline(DB00122) GGTACATGTGGTCGTACCATT 0.463000 32 68 0 0 1 0 0 BRWD1 54014 broad.mit.edu 37 21 40630422 40630422 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr21:40630422G>A ENST00000342449.3 - 18 2140 c.2062C>T c.(2062-2064)Ccc>Tcc p.P688S BRWD1_ENST00000380800.3_Missense_Mutation_p.P688S|BRWD1_ENST00000333229.2_Missense_Mutation_p.P688S NM_033656.3 NP_387505.1 Q9NSI6 BRWD1_HUMAN bromodomain and WD repeat domain containing 1 688 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2) 58 Prostate(19;8.44e-08)|all_epithelial(19;0.223) CCTCTCCGGGGTGTTTCTTCA 0.388000 58 161 0 0 1 0 0 RB1CC1 9821 broad.mit.edu 37 8 53586550 53586550 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:53586550A>G ENST00000025008.5 - 7 1380 c.857T>C c.(856-858)gTt>gCt p.V286A RB1CC1_ENST00000539297.1_Missense_Mutation_p.V286A|RB1CC1_ENST00000435644.2_Missense_Mutation_p.V286A|RB1CC1_ENST00000521611.1_Intron NM_014781.4 NP_055596.3 Q8TDY2 RBCC1_HUMAN RB1-inducible coiled-coil 1 286 autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex protein binding NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 60 all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023) TTGCTGATGAACAGTACTTTG 0.388000 55 172 0 0 1 0 0 SPINT1 6692 broad.mit.edu 37 15 41146652 41146652 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:41146652A>G ENST00000344051.4 + 7 1280 c.1046A>G c.(1045-1047)gAc>gGc p.D349G SPINT1_ENST00000431806.1_Missense_Mutation_p.D333G|SPINT1_ENST00000562057.1_Missense_Mutation_p.D333G O43278 SPIT1_HUMAN serine peptidase inhibitor, Kunitz type 1 349 LDL-receptor class A. extracellular region|membrane fraction protein binding|serine-type endopeptidase inhibitor activity central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 16 all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166) TGCTGCATCGACAGTTTCCTG 0.612000 14 91 0 0 1 0 0 CPEB2 132864 broad.mit.edu 37 4 15054114 15054114 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:15054114A>G ENST00000538197.1 + 7 2277 c.2277A>G c.(2275-2277)tcA>tcG p.S759S CPEB2_ENST00000345451.3_Silent_p.S284S|CPEB2_ENST00000259997.5_Silent_p.S322S|CPEB2_ENST00000382395.3_Silent_p.S292S|CPEB2_ENST00000382401.3_Silent_p.S287S|CPEB2_ENST00000442003.2_Silent_p.S732S|CPEB2_ENST00000507071.1_Silent_p.S314S|RP11-665G4.1_ENST00000502344.1_RNA|CPEB2_ENST00000541112.1_Silent_p.S751S|RP11-665G4.1_ENST00000513384.1_RNA NM_001177382.1 NP_001170853.1 Q7Z5Q1 CPEB2_HUMAN cytoplasmic polyadenylation element binding protein 2 314 regulation of translation cytoplasm nucleotide binding|RNA binding autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3) 14 TTTTAAATTCACCCACCTGTT 0.393000 23 86 0 0 1 0 0 PPP1R13L 10848 broad.mit.edu 37 19 45899945 45899945 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:45899945C>T ENST00000418234.2 - 4 648 c.570G>A c.(568-570)gcG>gcA p.A190A PPP1R13L_ENST00000360957.5_Silent_p.A190A NM_001142502.1 NP_001135974.1 Q8WUF5 IASPP_HUMAN protein phosphatase 1, regulatory subunit 13 like 190 Pro-rich. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus transcription corepressor activity|transcription factor binding breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0182) GGGGCCCCTCCGCCAGGGGGC 0.786000 4 11 0 0 1 0 0 KSR2 283455 broad.mit.edu 37 12 118198900 118198900 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:118198900A>G ENST00000425217.1 - 4 869 c.815T>C c.(814-816)tTg>tCg p.L272S KSR2_ENST00000339824.5_Missense_Mutation_p.L301S NM_173598.4 NP_775869.3 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 301 Pro-rich. intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TCCCGGGATCAAGTGTATCAG 0.657000 29 362 0 0 1 0 0 CPSF7 79869 broad.mit.edu 37 11 61183875 61183875 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:61183875G>A ENST00000340437.4 - 6 876 c.796C>T c.(796-798)Ccc>Tcc p.P266S CPSF7_ENST00000394888.4_Missense_Mutation_p.P223S|CPSF7_ENST00000439958.3_Missense_Mutation_p.P214S|CPSF7_ENST00000448745.1_Missense_Mutation_p.P214S NM_024811.3 NP_079087.3 Q8N684 CPSF7_HUMAN cleavage and polyadenylation specific factor 7, 59kDa 223 Pro-rich. mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription mRNA cleavage factor complex nucleotide binding|protein binding|RNA binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1) 22 TTGAAGTAGGGCAGCACACTG 0.592000 5 218 0 0 1 0 0 GSG2 83903 broad.mit.edu 37 17 3629072 3629072 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:3629072A>G ENST00000325418.4 + 1 1862 c.1843A>G c.(1843-1845)Atg>Gtg p.M615V ITGAE_ENST00000571185.1_Intron|ITGAE_ENST00000263087.4_Intron NM_031965.2 NP_114171.2 Q8TF76 HASP_HUMAN germ cell associated 2 (haspin) 615 Protein kinase. cell cycle|chromatin modification|intracellular protein kinase cascade nucleus ATP binding|protein serine/threonine kinase activity CTTAGAGCAAATGCGAACCAA 0.493000 9 141 0 0 1 0 0 ADI1 55256 broad.mit.edu 37 2 3502803 3502803 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:3502803C>T ENST00000382093.5 - 4 3290 c.453G>A c.(451-453)gcG>gcA p.A151A ADI1_ENST00000327435.6_Silent_p.A157A Q9BV57 MTND_HUMAN acireductone dioxygenase 1 157 L-methionine salvage from methylthioadenosine cytoplasm|nucleus|plasma membrane acireductone dioxygenase (Ni2+-requiring) activity|metal ion binding|protein binding breast(2)|large_intestine(2)|lung(4)|ovary(1)|stomach(1) 10 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) OV - Ovarian serous cystadenocarcinoma(76;0.0729)|Epithelial(75;0.173)|all cancers(51;0.228) GCCGGTTGTACGCTGTCCACA 0.567000 19 50 0 0 1 0 0 ANKS1B 56899 broad.mit.edu 37 12 99640329 99640329 + Missense_Mutation SNP T T A rs144139453 by1000genomes TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:99640329T>A ENST00000547776.2 - 13 2069 c.2070A>T c.(2068-2070)agA>agT p.R690S ANKS1B_ENST00000550833.1_5'UTR|ANKS1B_ENST00000547010.1_Missense_Mutation_p.R270S|ANKS1B_ENST00000329257.7_Missense_Mutation_p.R690S NM_152788.4 NP_690001.3 Q7Z6G8 ANS1B_HUMAN ankyrin repeat and sterile alpha motif domain containing 1B 690 Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1) 70 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) TCCTGGTTGATCTTGTGCCAA 0.443000 13 52 0 0 1 0 0 CAPN15 6650 broad.mit.edu 37 16 599378 599378 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:599378C>T ENST00000219611.2 + 6 2112 c.1749C>T c.(1747-1749)taC>taT p.Y583Y LA16c-366D1.3_ENST00000565879.1_RNA NM_005632.2 NP_005623.1 calpain 15 AGGGCGCCTACCAGGTGCGGC 0.697000 6 14 0 0 1 0 0 SLC39A5 283375 broad.mit.edu 37 12 56629464 56629464 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:56629464C>T ENST00000266980.4 + 6 1218 c.925C>T c.(925-927)Cgg>Tgg p.R309W SLC39A5_ENST00000454355.2_Missense_Mutation_p.R309W NM_001135195.1 NP_001128667.1 Q6ZMH5 S39A5_HUMAN solute carrier family 39 (zinc transporter), member 5 309 zinc ion transport basolateral plasma membrane|integral to membrane metal ion transmembrane transporter activity p.R308W(1) NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 GGGGCTTTTGCGGCACCGAGG 0.632000 5 421 0 0 1 0 0 PDLIM3 27295 broad.mit.edu 37 4 186423556 186423556 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:186423556T>C ENST00000284770.5 - 8 1060 c.987A>G c.(985-987)caA>caG p.Q329Q PDLIM3_ENST00000284767.5_3'UTR|PDLIM3_ENST00000284771.6_Silent_p.Q281Q NM_014476.5 NP_055291.2 Q53GG5 PDLI3_HUMAN PDZ and LIM domain 3 329 LIM zinc-binding. sarcomere zinc ion binding breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171) AGTAGCCCTTTTGCTTGAGGT 0.567000 46 133 0 0 1 0 0 PTPRS 5802 broad.mit.edu 37 19 5219973 5219973 + Missense_Mutation SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:5219973C>A ENST00000372412.4 - 22 3978 c.3745G>T c.(3745-3747)Gcc>Tcc p.A1249S PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000353284.2_Missense_Mutation_p.A817S|PTPRS_ENST00000588012.1_Missense_Mutation_p.A1226S|PTPRS_ENST00000357368.4_Missense_Mutation_p.A1248S|PTPRS_ENST00000587303.1_Missense_Mutation_p.A1248S|PTPRS_ENST00000348075.2_Missense_Mutation_p.A1226S|PTPRS_ENST00000262963.6_Missense_Mutation_p.A1244S|PTPRS_ENST00000592099.1_Missense_Mutation_p.A817S Q13332 PTPRS_HUMAN protein tyrosine phosphatase, receptor type, S 1248 cell adhesion integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1) 61 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182) TGAAGCACGGCAAGCACGAAG 0.622000 6 270 0.00198382 0.00200201 1 1 0 SIPA1 6494 broad.mit.edu 37 11 65413733 65413733 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:65413733C>T ENST00000394224.3 + 7 1601 c.1305C>T c.(1303-1305)atC>atT p.I435I SIPA1_ENST00000527525.1_Silent_p.I435I|SIPA1_ENST00000394227.3_Silent_p.I435I|SIPA1_ENST00000534313.1_Silent_p.I435I NM_153253.29 NP_694985.29 Q96FS4 SIPA1_HUMAN signal-induced proliferation-associated 1 435 Rap-GAP. cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth cytosol|endomembrane system|membrane|perinuclear region of cytoplasm Rap GTPase activator activity cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1) 10 TTGTGACCATCGTGTTCCAGG 0.612000 47 159 0 0 1 0 0 ZBTB49 166793 broad.mit.edu 37 4 4317368 4317368 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:4317368C>T ENST00000337872.4 + 6 1503 c.1382C>T c.(1381-1383)gCa>gTa p.A461V ZBTB49_ENST00000538529.1_5'UTR|ZBTB49_ENST00000355834.3_Intron NM_145291.3 NP_660334.3 Q6ZSB9 ZBT49_HUMAN zinc finger and BTB domain containing 49 461 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 28 TCTAGGTTTGCAGCCTCTGGC 0.438000 7 16 0 0 1 0 0 SEC14L4 284904 broad.mit.edu 37 22 30887920 30887920 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr22:30887920C>T ENST00000392772.2 - 10 927 c.650G>A c.(649-651)tGc>tAc p.C217Y RP4-539M6.14_ENST00000442126.1_RNA|SEC14L4_ENST00000540456.1_Missense_Mutation_p.C256Y|SEC14L4_ENST00000381982.3_Missense_Mutation_p.C271Y|SEC14L4_ENST00000255858.7_Missense_Mutation_p.C271Y Q9UDX3 S14L4_HUMAN SEC14-like 4 (S. cerevisiae) 271 CRAL-TRIO. integral to membrane|intracellular lipid binding|transporter activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1) 21 Vitamin E(DB00163) CACCTGCTCGCACAGGTAGTA 0.617000 6 28 0 0 1 0 0 CLC 1178 broad.mit.edu 37 19 40225074 40225074 + Missense_Mutation SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:40225074A>T ENST00000221804.4 - 3 227 c.152T>A c.(151-153)gTc>gAc p.V51D NM_001828.5 NP_001819.2 Q05315 LPPL_HUMAN Charcot-Leyden crystal galectin 51 Galectin. lipid catabolic process|multicellular organismal development carboxylesterase activity|lysophospholipase activity|sugar binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)|stomach(1) 12 all_cancers(60;2.99e-06)|all_lung(34;4.7e-08)|Lung NSC(34;5.46e-08)|Ovarian(47;0.06) Renal(1328;0.000147)|Hepatocellular(1079;0.0202)|Myeloproliferative disorder(2;0.0255) Epithelial(26;6.43e-25)|OV - Ovarian serous cystadenocarcinoma(5;1.07e-24)|all cancers(26;8.38e-23) GBM - Glioblastoma multiforme(1328;4.97e-06)|STAD - Stomach adenocarcinoma(1328;0.00655) GAAATGGAAGACAATGTCTGA 0.502000 47 169 0 0 1 0 0 PCDHA10 56139 broad.mit.edu 37 5 140237074 140237074 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:140237074G>A ENST00000307360.5 + 1 1441 c.1441G>A c.(1441-1443)Gcg>Acg p.A481T PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.A481T|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron NM_018901.2|NM_031859.1 NP_061724.1|NP_114065.1 p.A481S(2) NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 79 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCGTGGGACGCGGACGCGCA 0.662000 48 201 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144940741 144940741 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:144940741C>T ENST00000525985.1 - 2 6752 c.6681G>A c.(6679-6681)gcG>gcA p.A2227A P58107 EPIPL_HUMAN epiplakin 1 2227 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CCAGGACGCCCGCGATGCAGC 0.677000 5 203 0 0 1 0 0 ZNF792 126375 broad.mit.edu 37 19 35449854 35449854 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:35449854T>C ENST00000404801.1 - 4 1291 c.905A>G c.(904-906)aAa>aGa p.K302R ZNF792_ENST00000605484.1_Missense_Mutation_p.K235R NM_175872.4 NP_787068.3 Q3KQV3 ZN792_HUMAN zinc finger protein 792 302 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5) 12 all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) ATTGTGAACTTTCTGGTGTTG 0.468000 4 39 0 0 1 0 0 FOLH1 2346 broad.mit.edu 37 11 49207285 49207285 + Missense_Mutation SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:49207285C>A ENST00000340334.7 - 7 1085 c.717G>T c.(715-717)caG>caT p.Q239H FOLH1_ENST00000343844.4_Intron|FOLH1_ENST00000533034.1_Missense_Mutation_p.Q239H|FOLH1_ENST00000356696.3_Missense_Mutation_p.Q254H|FOLH1_ENST00000256999.2_Missense_Mutation_p.Q254H NM_001193471.1|NM_001193472.1 NP_001180400.1|NP_001180401.1 Q04609 FOLH1_HUMAN folate hydrolase (prostate-specific membrane antigen) 1 254 proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 60 Capromab(DB00089)|L-Glutamic Acid(DB00142) TATTTCCACGCTGGACACCAC 0.483000 16 59 4.96729e-08 5.11586e-08 1 1 0 SLC5A9 200010 broad.mit.edu 37 1 48694628 48694628 + Splice_Site SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:48694628T>C ENST00000236495.5 + 3 389 c.e3+2 SLC5A9_ENST00000438567.2_Splice_Site|SLC5A9_ENST00000420136.2_Splice_Site|SLC5A9_ENST00000533824.1_Splice_Site|RP5-1024N4.4_ENST00000606809.1_RNA NM_001135181.1 NP_001128653.1 Q2M3M2 SC5A9_HUMAN solute carrier family 5 (sodium/sugar cotransporter), member 9 integral to membrane|plasma membrane low-affinity glucose:sodium symporter activity breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1) 26 GAGTGGAACGTAAGGAAGCTG 0.582000 26 76 0 0 1 0 0 HERPUD2 64224 broad.mit.edu 37 7 35709871 35709871 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:35709871C>T ENST00000396081.1 - 3 1097 c.293G>A c.(292-294)aGc>aAc p.S98N HERPUD2_ENST00000311350.3_Missense_Mutation_p.S98N NM_022373.4 NP_071768.3 Q9BSE4 HERP2_HUMAN HERPUD family member 2 98 Ser-rich. response to unfolded protein integral to membrane kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1) 18 TCTATTGGTGCTGGATTTTGG 0.383000 19 70 0 0 1 0 0 ANGPT1 284 broad.mit.edu 37 8 108315570 108315570 + Missense_Mutation SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:108315570C>A ENST00000520734.1 - 4 519 c.234G>T c.(232-234)gaG>gaT p.E78D ANGPT1_ENST00000520052.1_Missense_Mutation_p.E77D|ANGPT1_ENST00000518386.1_Intron Q15389 ANGP1_HUMAN angiopoietin 1 278 activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway extracellular space|membrane raft|microvillus|plasma membrane receptor tyrosine kinase binding NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 43 Breast(1;5.06e-08) OV - Ovarian serous cystadenocarcinoma(57;5.53e-09) GTTTCTCTTCCTCTCTTTTTC 0.313000 23 89 1.10923e-09 1.14765e-09 1 1 0 PCDHB13 56123 broad.mit.edu 37 5 140595076 140595076 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:140595076C>T ENST00000341948.4 + 1 1568 c.1381C>T c.(1381-1383)Cgc>Tgc p.R461C NM_018933.2 NP_061756.1 Q9Y5F0 PCDBD_HUMAN 461 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 66 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCTGTTCGTCCGCGAGAACAA 0.602000 6 359 0 0 1 0 0 ITGAL 3683 broad.mit.edu 37 16 30495265 30495265 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:30495265C>T ENST00000356798.6 + 8 1020 c.840C>T c.(838-840)atC>atT p.I280I RP11-297C4.2_ENST00000569459.1_RNA|ITGAL_ENST00000454514.2_3'UTR|ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Silent_p.I197I NM_002209.2 NP_002200.2 P20701 ITAL_HUMAN integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) 280 VWFA. blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell integrin complex cell adhesion molecule binding|receptor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 76 Efalizumab(DB00095) AAGACATCATCCGCTACATCA 0.582000 84 215 0 0 1 0 0 SGCE 8910 broad.mit.edu 37 7 94252690 94252690 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:94252690C>T ENST00000415788.2 - 5 605 c.518G>A c.(517-519)cGc>cAc p.R173H SGCE_ENST00000265735.7_Missense_Mutation_p.R137H|SGCE_ENST00000445866.2_Missense_Mutation_p.R137H|SGCE_ENST00000428696.2_Missense_Mutation_p.R137H|SGCE_ENST00000437425.2_Missense_Mutation_p.R96H|SGCE_ENST00000447873.1_Missense_Mutation_p.R137H O43556 SGCE_HUMAN sarcoglycan, epsilon 137 cell-matrix adhesion|muscle organ development cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma calcium ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1) 14 all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215) STAD - Stomach adenocarcinoma(171;0.0031) CTCAAAGGTGCGCCTGTTGTA 0.274000 9 34 0 0 1 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140869557 140869557 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:140869557A>G ENST00000252087.1 + 1 750 c.750A>G c.(748-750)ggA>ggG p.G250G PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA6_ENST00000517434.1_Intron NM_018929.2|NM_032403.2|NM_032407.1 NP_061752.1|NP_115779.1|NP_115783.1 Q9Y5F6 PCDGM_HUMAN 250 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TACGTGTGGGAATCCCAGAGA 0.547000 6 304 0 0 1 0 0 OR2T1 26696 broad.mit.edu 37 1 248570264 248570264 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:248570264C>T ENST00000366474.1 + 1 969 c.969C>T c.(967-969)gtC>gtT p.V323V NM_030904.1 NP_112166.1 O43869 OR2T1_HUMAN olfactory receptor, family 2, subfamily T, member 1 323 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 39 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) AGGACAAAGTCCTCTCTGTGT 0.522000 37 132 0 0 1 0 0 PRKD1 5587 broad.mit.edu 37 14 30108090 30108090 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:30108090C>T ENST00000331968.5 - 5 946 c.717G>A c.(715-717)tcG>tcA p.S239S PRKD1_ENST00000415220.2_Silent_p.S247S|PRKD1_ENST00000551644.1_5'UTR NM_002742.2 NP_002733.2 Q15139 KPCD1_HUMAN protein kinase D1 239 cell proliferation|intracellular signal transduction|sphingolipid metabolic process cytosol|integral to plasma membrane ATP binding|metal ion binding|protein binding|protein kinase C activity NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 78 Hepatocellular(127;0.0604) LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252) GBM - Glioblastoma multiforme(265;0.00888) GACCAATAAACGACTCTGATG 0.338000 16 51 0 0 1 0 0 PRPF8 10594 broad.mit.edu 37 17 1579861 1579861 + Missense_Mutation SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:1579861G>T ENST00000572621.1 - 15 2591 c.2326C>A c.(2326-2328)Ctg>Atg p.L776M PRPF8_ENST00000304992.6_Missense_Mutation_p.L776M Q6P2Q9 PRP8_HUMAN pre-mRNA processing factor 8 776 catalytic step 2 spliceosome|nuclear speck|U5 snRNP protein binding|RNA binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 77 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) AGGCGGCCCAGATTCTTTTTA 0.592000 6 450 0.217242 0.217435 1 1 0 PRSS22 64063 broad.mit.edu 37 16 2906204 2906204 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:2906204C>T ENST00000161006.3 - 3 225 c.160G>A c.(160-162)Gag>Aag p.E54K PRSS22_ENST00000574768.1_5'UTR|PRSS22_ENST00000571228.1_Missense_Mutation_p.E54K NM_022119.3 NP_071402.1 Q9GZN4 BSSP4_HUMAN protease, serine, 22 54 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2) 10 GTGCTGTCCTCGCCGCCCACA 0.607000 19 68 0 0 1 0 0 CCDC180 100499483 broad.mit.edu 37 9 100074394 100074394 + Splice_Site SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:100074394G>T ENST00000375202.2 + 18 1744 c.e18-1 RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000395220.1_Splice_Site|CCDC180_ENST00000357054.1_Splice_Site|CCDC180_ENST00000411667.2_Splice_Site|CCDC180_ENST00000460482.2_Splice_Site|CCDC180_ENST00000529487.1_Splice_Site coiled-coil domain containing 180 TTGTGTCTCAGGGAAAAGGAA 0.552000 14 169 7.93312e-07 8.13695e-07 1 1 0 CCDC37 348807 broad.mit.edu 37 3 126138545 126138545 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:126138545T>C ENST00000393425.1 + 9 899 c.800T>C c.(799-801)cTg>cCg p.L267P CCDC37_ENST00000505024.1_Missense_Mutation_p.L267P|CCDC37_ENST00000352312.1_Missense_Mutation_p.L266P Q494V2 CCD37_HUMAN coiled-coil domain containing 37 266 NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3) 23 GBM - Glioblastoma multiforme(114;0.166) CTATACAAGCTGTCGCCCAAG 0.493000 4 110 0 0 1 0 0 HIVEP3 59269 broad.mit.edu 37 1 41976694 41976694 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:41976694G>A ENST00000372584.1 - 8 7660 c.6646C>T c.(6646-6648)Ccc>Tcc p.P2216S HIVEP3_ENST00000372583.1_Missense_Mutation_p.P2217S|HIVEP3_ENST00000429157.2_Missense_Mutation_p.P2216S|HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000247584.5_Missense_Mutation_p.P2217S NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 2217 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) GCTGCGGTGGGCCCTGGCAGC 0.706000 37 82 0 0 1 0 0 SKIV2L 6499 broad.mit.edu 37 6 31937436 31937436 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:31937436G>A ENST00000375394.2 + 28 3798 c.3685G>A c.(3685-3687)Gcg>Acg p.A1229T SKIV2L_ENST00000544581.1_Missense_Mutation_p.A1036T NM_006929.4 NP_008860.4 Q15477 SKIV2_HUMAN superkiller viralicidic activity 2-like (S. cerevisiae) 1229 nucleus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1) 4 GATGGAGACAGCGGCTACCTT 0.582000 8 115 0 0 1 0 0 COMMD2 51122 broad.mit.edu 37 3 149470050 149470050 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:149470050G>A ENST00000473414.1 - 2 146 c.92C>T c.(91-93)gCt>gTt p.A31V NM_016094.3 NP_057178.2 Q86X83 COMD2_HUMAN COMM domain containing 2 31 protein binding NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|urinary_tract(1) 9 LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048) GAATTCCACAGCAATCCGCCC 0.602000 9 168 0 0 1 0 0 CNNM3 26505 broad.mit.edu 37 2 97490844 97490844 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:97490844C>T ENST00000305510.3 + 2 1303 c.1275C>T c.(1273-1275)ggC>ggT p.G425G CNNM3_ENST00000377060.3_Intron|ANKRD23_ENST00000476975.1_Intron NM_017623.4 NP_060093.3 Q8NE01 CNNM3_HUMAN cyclin M3 425 CBS 2. ion transport integral to membrane|plasma membrane protein binding NS(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)|skin(1)|urinary_tract(2) 13 AGGGTGAAGGCGACCCCTTCT 0.607000 14 51 0 0 1 0 0 LONRF1 91694 broad.mit.edu 37 8 12595535 12595535 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:12595535G>A ENST00000398246.3 - 4 1151 c.1082C>T c.(1081-1083)tCt>tTt p.S361F LONRF1_ENST00000533751.1_Missense_Mutation_p.S4F NM_152271.3 NP_689484.3 Q17RB8 LONF1_HUMAN LON peptidase N-terminal domain and ring finger 1 361 proteolysis ATP-dependent peptidase activity|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2) 19 READ - Rectum adenocarcinoma(644;0.236) GAGAGACTGAGACTCTTCCAT 0.398000 28 92 0 0 1 0 0 LUZP2 338645 broad.mit.edu 37 11 25004699 25004699 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:25004699A>G ENST00000533227.1 + 9 654 c.367A>G c.(367-369)Act>Gct p.T123A LUZP2_ENST00000336930.6_Missense_Mutation_p.T209A NM_001009909.3|NM_001252008.1 NP_001009909.2|NP_001238937.1 Q86TE4 LUZP2_HUMAN leucine zipper protein 2 209 extracellular region central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 32 AATGAAAGAGACTGTGCAGCT 0.418000 29 98 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11049553 11049553 + RNA SNP T T G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr21:11049553T>G ENST00000470054.1 - 0 555 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) TGACCACAAGTAGTACAAAAG 0.448000 6 179 0 0 1 0 0 JUP 3728 broad.mit.edu 37 17 39914749 39914749 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:39914749T>C ENST00000393931.3 - 10 1793 c.1675A>G c.(1675-1677)Att>Gtt p.I559V JUP_ENST00000540235.1_Intron|JUP_ENST00000393930.1_Missense_Mutation_p.I559V|JUP_ENST00000310706.5_Missense_Mutation_p.I559V NM_002230.2 NP_002221.1 P14923 PLAK_HUMAN junction plakoglobin 559 adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1) 23 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.233) BRCA - Breast invasive adenocarcinoma(366;0.15) CCCTCCACAATCTCCTCCATC 0.602000 14 42 0 0 1 0 0 IRX2 153572 broad.mit.edu 37 5 2749790 2749790 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:2749790C>T ENST00000382611.6 - 2 609 c.361G>A c.(361-363)Gcc>Acc p.A121T IRX2_ENST00000302057.5_Missense_Mutation_p.A121T|IRX2_ENST00000502957.1_5'UTR NM_001134222.1 NP_001127694.1 Q9BZI1 IRX2_HUMAN iroquois homeobox 2 121 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2) 26 GBM - Glioblastoma multiforme(108;0.204) TCCCGCGTGGCGTTCTTGCGG 0.662000 28 75 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238274458 238274458 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:238274458C>T ENST00000295550.4 - 12 6173 c.5721G>A c.(5719-5721)caG>caA p.Q1907Q COL6A3_ENST00000472056.1_Silent_p.Q1300Q|COL6A3_ENST00000353578.4_Silent_p.Q1701Q|COL6A3_ENST00000346358.4_Silent_p.Q1707Q|COL6A3_ENST00000409809.1_Silent_p.Q1701Q|COL6A3_ENST00000347401.3_Silent_p.Q1706Q NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 1907 Nonhelical region.|VWFA 10. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) GCATCTCTGGCTGGTACTCGT 0.627000 36 120 0 0 1 0 0 CFAP54 144535 broad.mit.edu 37 12 97084908 97084908 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:97084908T>C ENST00000524981.3 + 11 1437 c.1437T>C c.(1435-1437)ggT>ggC p.G479G Q6ZTY8 CL063_HUMAN 453 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2) 54 ATTTTCAGGGTTTGCTTAGAA 0.323000 9 44 0 0 1 0 0 ATP4A 495 broad.mit.edu 37 19 36050968 36050968 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:36050968C>T ENST00000262623.3 - 7 823 c.795G>A c.(793-795)gtG>gtA p.V265V NM_000704.2 NP_000695.2 P20648 ATP4A_HUMAN ATPase, H+/K+ exchanging, alpha polypeptide 265 V -> A (in dbSNP:rs2733743). ATP biosynthetic process|ATP hydrolysis coupled proton transport integral to plasma membrane ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 53 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831) CCAGGCCCTGCACGGTGCCTG 0.657000 24 58 0 0 1 0 0 BRDT 676 broad.mit.edu 37 1 92430262 92430262 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:92430262G>A ENST00000370389.2 + 3 976 c.52G>A c.(52-54)Gct>Act p.A18T BRDT_ENST00000362005.3_Missense_Mutation_p.A91T|BRDT_ENST00000402388.1_Missense_Mutation_p.A91T|BRDT_ENST00000394530.3_Intron|BRDT_ENST00000399546.2_Missense_Mutation_p.A91T NM_001242810.1 NP_001229739.1 Q58F21 BRDT_HUMAN bromodomain, testis-specific 91 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein serine/threonine kinase activity|transcription coactivator activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2) 56 all_lung(203;0.00531)|Lung NSC(277;0.0194) all cancers(265;0.0228)|Epithelial(280;0.133) TTATGCGAAGGCTTCAGAATG 0.279000 13 26 0 0 1 0 0 SLC19A1 6573 broad.mit.edu 37 21 46950805 46950805 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr21:46950805C>T ENST00000311124.4 - 4 1182 c.1030G>A c.(1030-1032)Gcc>Acc p.A344T SLC19A1_ENST00000567670.1_Missense_Mutation_p.A344T|SLC19A1_ENST00000485649.2_Missense_Mutation_p.A304T|SLC19A1_ENST00000380010.4_Missense_Mutation_p.A344T NM_194255.2 NP_919231.1 P41440 S19A1_HUMAN solute carrier family 19 (folate transporter), member 1 344 folic acid metabolic process integral to plasma membrane|membrane fraction folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 10 Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172) GCCTGCGTGGCCGTGACGCCC 0.692000 3 14 0 0 1 0 0 NSRP1 84081 broad.mit.edu 37 17 28445178 28445178 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:28445178A>G ENST00000247026.5 + 2 164 c.101A>G c.(100-102)gAt>gGt p.D34G NSRP1_ENST00000479218.2_3'UTR|NSRP1_ENST00000540900.3_Intron|NSRP1_ENST00000584423.1_Missense_Mutation_p.D34G NM_001261467.1|NM_032141.3 NP_001248396.1|NP_115517.1 Q9H0G5 NSRP1_HUMAN nuclear speckle splicing regulatory protein 1 34 Poly-Asp. developmental process|nucleocytoplasmic transport|regulation of alternative nuclear mRNA splicing, via spliceosome nuclear speck|ribonucleoprotein complex mRNA binding|protein binding autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1) 14 AATGATTCTGATGATGATGAT 0.353000 35 114 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216462747 216462747 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:216462747T>C ENST00000366943.2 - 11 2232 c.1846A>G c.(1846-1848)Aac>Gac p.N616D USH2A_ENST00000307340.3_Missense_Mutation_p.N616D|USH2A_ENST00000366942.3_Missense_Mutation_p.N616D O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 616 Laminin EGF-like 2. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) AGCTCACAGTTCCTTCCTGCA 0.403000 HNSCC(13;0.011) 7 90 0 0 1 0 0 SYCP2 10388 broad.mit.edu 37 20 58475270 58475270 + Missense_Mutation SNP A A G rs148122576 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:58475270A>G ENST00000357552.3 - 18 1552 c.1327T>C c.(1327-1329)Tcc>Ccc p.S443P SYCP2_ENST00000371001.2_Missense_Mutation_p.S443P Q9BX26 SYCP2_HUMAN synaptonemal complex protein 2 443 cell division|meiotic prophase I|synaptonemal complex assembly DNA binding NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;1.19e-09) TCCTTTGGGGACTTTGATTTT 0.338000 14 51 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593000 96593000 + Missense_Mutation SNP A A G rs111976783 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:96593000A>G ENST00000456556.1 - 28 1985 c.1901T>C c.(1900-1902)aTa>aCa p.I634T ankyrin repeat domain 36C p.I634T(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 TTCTGTGGCTATATTTGAAAC 0.338000 4 71 0 0 1 0 0 LOC100294341 100294341 broad.mit.edu 37 17 43587708 43587708 + RNA SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:43587708A>G ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA AACAACCACCATCTCCAAATC 0.348000 4 106 0 0 1 0 0 KIAA2026 158358 broad.mit.edu 37 9 5920253 5920253 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:5920253T>C ENST00000399933.3 - 8 5742 c.5743A>G c.(5743-5745)Act>Gct p.T1915A KIAA2026_ENST00000381461.2_Missense_Mutation_p.T1885A NM_001017969.2 NP_001017969.2 Q5HYC2 K2026_HUMAN KIAA2026 1915 breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1) 46 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124) TTTGGATTAGTAGATATAAGG 0.438000 10 237 0 0 1 0 0 TMCC3 57458 broad.mit.edu 37 12 94975823 94975823 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:94975823C>T ENST00000261226.4 - 2 701 c.570G>A c.(568-570)ggG>ggA p.G190G TMCC3_ENST00000551457.1_Silent_p.G159G NM_020698.2 NP_065749.2 Q9ULS5 TMCC3_HUMAN transmembrane and coiled-coil domain family 3 190 integral to membrane NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 29 TAAGTGAGACCCCTGGCATGC 0.498000 43 158 0 0 1 0 0 KANK2 25959 broad.mit.edu 37 19 11304261 11304261 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:11304261T>C ENST00000432929.2 - 4 855 c.495A>G c.(493-495)ccA>ccG p.P165P KANK2_ENST00000586659.1_Silent_p.P165P|KANK2_ENST00000589894.1_Silent_p.P165P|KANK2_ENST00000355150.5_Silent_p.P165P|KANK2_ENST00000589359.1_Silent_p.P165P NM_001136191.2 NP_001129663.1 Q63ZY3 KANK2_HUMAN KN motif and ankyrin repeat domains 2 165 endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 GTGTCGGGGGTGGCAACCCCA 0.736000 12 22 0 0 1 0 0 SACS 26278 broad.mit.edu 37 13 23932595 23932595 + Translation_Start_Site SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr13:23932595G>A ENST00000402364.1 - 0 566 SACS_ENST00000382298.3_Silent_p.N161N|SACS_ENST00000382292.3_Silent_p.N161N NM_001278055.1 NP_001264984.1 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding p.N14N(1)|p.N161N(1) NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) TGAAAACCGCGTTGTTGTACA 0.458000 32 140 0 0 1 0 0 SLC35G1 159371 broad.mit.edu 37 10 95658362 95658362 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:95658362C>T ENST00000371408.3 + 2 271 c.210C>T c.(208-210)ggC>ggT p.G70G SLC35G1_ENST00000427197.1_Silent_p.G71G Q2M3R5 TMM20_HUMAN solute carrier family 35, member G1 71 integral to membrane CTGGACTTGGCTTGTTTTACA 0.388000 5 72 0 0 1 0 0 PPRC1 23082 broad.mit.edu 37 10 103899296 103899296 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:103899296T>C ENST00000278070.2 + 5 1070 c.1031T>C c.(1030-1032)gTa>gCa p.V344A PPRC1_ENST00000413464.2_Missense_Mutation_p.V344A NM_015062.3 NP_055877.3 Q5VV67 PPRC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator-related 1 344 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 56 Colorectal(252;0.122) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) GAGGGCTGCGTAGTGCTGGAG 0.612000 6 273 0 0 1 0 0 SLC37A4 2542 broad.mit.edu 37 11 118898461 118898461 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:118898461G>A ENST00000545985.1 - 5 1259 c.503C>T c.(502-504)aCg>aTg p.T168M SLC37A4_ENST00000525102.1_5'UTR|SLC37A4_ENST00000538950.1_Missense_Mutation_p.T95M|SLC37A4_ENST00000357590.5_Missense_Mutation_p.T168M|SLC37A4_ENST00000330775.7_Missense_Mutation_p.T168M NM_001164277.1|NM_001467.5 NP_001157749.1|NP_001458.1 O43826 G6PT1_HUMAN solute carrier family 37 (glucose-6-phosphate transporter), member 4 168 glucose homeostasis|glucose metabolic process endoplasmic reticulum membrane|integral to endoplasmic reticulum membrane|integral to membrane glucose-6-phosphate transmembrane transporter activity endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|prostate(1) 6 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207) BRCA - Breast invasive adenocarcinoma(274;7.58e-05) TAGGGCCAGCGTGCTGCGCCA 0.607000 13 34 0 0 1 0 0 C12orf56 115749 broad.mit.edu 37 12 64784234 64784234 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:64784234G>A ENST00000543942.2 - 1 738 c.112C>T c.(112-114)Cca>Tca p.P38S RPS11P6_ENST00000535684.1_RNA|C12orf56_ENST00000333722.5_Missense_Mutation_p.P38S NM_001170633.1 NP_001164104.1 Q8IXR9 CL056_HUMAN chromosome 12 open reading frame 56 38 NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1) 15 GBM - Glioblastoma multiforme(3;0.000582) GBM - Glioblastoma multiforme(28;0.0259) ACGATGCATGGCTCGTAGGCG 0.642000 5 148 0 0 1 0 0 DPP9 91039 broad.mit.edu 37 19 4682811 4682811 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:4682811A>G ENST00000262960.9 - 20 2648 c.2371T>C c.(2371-2373)Tac>Cac p.Y791H DPP9_ENST00000598800.1_Missense_Mutation_p.Y762H|AC005594.3_ENST00000381796.1_RNA|DPP9_ENST00000594671.1_Missense_Mutation_p.Y762H NM_139159.4 NP_631898.3 Q86TI2 DPP9_HUMAN dipeptidyl-peptidase 9 762 proteolysis cytosol|membrane aminopeptidase activity|serine-type peptidase activity cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884) CCTGTGTCGTAGGCCATCCAG 0.627000 4 7 0 0 1 0 0 MORC1 27136 broad.mit.edu 37 3 108725919 108725919 + Missense_Mutation SNP T T A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:108725919T>A ENST00000232603.5 - 18 1806 c.1724A>T c.(1723-1725)gAc>gTc p.D575V MORC1_ENST00000483760.1_Intron NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 575 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 AGTGATTTCGTCCACTGGTAT 0.368000 15 56 0 0 1 0 0 HPSE 10855 broad.mit.edu 37 4 84223312 84223312 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:84223312T>C ENST00000405413.2 - 11 1452 c.1316A>G c.(1315-1317)aAc>aGc p.N439S HPSE_ENST00000311412.5_Missense_Mutation_p.N439S|HPSE_ENST00000512196.1_Missense_Mutation_p.N365S|HPSE_ENST00000513463.1_Missense_Mutation_p.N381S NM_006665.5 NP_006656.2 Q9Y251 HPSE_HUMAN heparanase 439 carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process extracellular region|lysosomal membrane|nucleus beta-glucuronidase activity|cation binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 20 Hepatocellular(203;0.114) COAD - Colon adenocarcinoma(81;0.141) Heparin(DB01109) CTTGTCAGTGTTTGTGCAATG 0.413000 21 68 0 0 1 0 0 MAGEB6 158809 broad.mit.edu 37 X 26212473 26212473 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chrX:26212473C>T ENST00000379034.1 + 2 659 c.510C>T c.(508-510)gcC>gcT p.A170A NM_173523.2 NP_775794.2 Q8N7X4 MAGB6_HUMAN melanoma antigen family B, 6 170 breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2) 33 ATGTGGCTGCCGAGGGTGAAG 0.517000 27 32 0 0 1 0 0 ECE1 1889 broad.mit.edu 37 1 21551831 21551831 + Missense_Mutation SNP T T A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:21551831T>A ENST00000415912.2 - 17 2029 c.1904A>T c.(1903-1905)aAc>aTc p.N635I ECE1_ENST00000436918.2_Missense_Mutation_p.N651I|ECE1_ENST00000264205.6_Missense_Mutation_p.N648I|ECE1_ENST00000374893.6_Missense_Mutation_p.N651I|ECE1_ENST00000357071.4_Missense_Mutation_p.N639I NM_001113348.1 NP_001106819.1 P42892 ECE1_HUMAN endothelin converting enzyme 1 651 bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body metal ion binding|metalloendopeptidase activity|protein homodimerization activity endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1) 25 Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206) CACGCTGTAGTTGCTGTACTG 0.632000 18 65 0 0 1 0 0 GTF2IRD2P1 401375 broad.mit.edu 37 7 72657959 72657959 + RNA SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:72657959T>C ENST00000425256.1 - 0 1952 NR_002164.1 catgaaggagtcgatttcttc 0.507000 26 76 0 0 1 0 0 PLEKHG6 55200 broad.mit.edu 37 12 6427516 6427516 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:6427516T>C ENST00000449001.2 + 10 1603 c.1109T>C c.(1108-1110)gTt>gCt p.V370A PLEKHG6_ENST00000536531.1_Missense_Mutation_p.V402A|PLEKHG6_ENST00000396988.3_Missense_Mutation_p.V402A|PLEKHG6_ENST00000011684.7_Missense_Mutation_p.V402A NM_001144857.1 NP_001138329.1 Q3KR16 PKHG6_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 6 402 regulation of Rho protein signal transduction cleavage furrow|cytoplasm|spindle pole GTPase activator activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4) 23 ATGCTGGGGGTTGCATCTGAG 0.652000 19 97 0 0 1 0 0 CCNA1 8900 broad.mit.edu 37 13 37012300 37012300 + Missense_Mutation SNP A A C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr13:37012300A>C ENST00000418263.1 + 4 988 c.638A>C c.(637-639)gAa>gCa p.E213A CCNA1_ENST00000449823.1_Missense_Mutation_p.E170A|CCNA1_ENST00000255465.4_Missense_Mutation_p.E214A|CCNA1_ENST00000440264.1_Missense_Mutation_p.E170A NM_001111045.1|NM_003914.3 NP_001104515.1|NP_003905.1 P78396 CCNA1_HUMAN cyclin A1 214 cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis cytosol|microtubule cytoskeleton|nucleoplasm protein kinase binding breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1) 35 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242) TATGCTGAAGAAATTTATCAG 0.393000 34 100 0 0 1 0 0 BCL6 604 broad.mit.edu 37 3 187447147 187447147 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:187447147C>T ENST00000406870.2 - 5 1412 c.1046G>A c.(1045-1047)aGc>aAc p.S349N RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000450123.2_Missense_Mutation_p.S349N|RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000232014.4_Missense_Mutation_p.S349N NM_001706.4 NP_001697.2 P41182 BCL6_HUMAN B-cell CLL/lymphoma 6 349 negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 40 all_cancers(143;9.45e-12)|Ovarian(172;0.0418) OV - Ovarian serous cystadenocarcinoma(80;1.76e-18) GBM - Glioblastoma multiforme(93;0.0141) ATTCTTACTGCTGCAGGACTC 0.582000 """T, Mis""" """IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R, POU2AF1, ARHH, EIF4A2, SFRS3""" """NHL, CLL""" 64 280 0 0 1 0 0 STX18 53407 broad.mit.edu 37 4 4422626 4422626 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:4422626C>T ENST00000306200.2 - 10 940 c.877G>A c.(877-879)Gaa>Aaa p.E293K STX18_ENST00000505286.1_Missense_Mutation_p.E293K NM_016930.2 NP_058626.1 Q9P2W9 STX18_HUMAN syntaxin 18 293 t-SNARE coiled-coil homology. ER to Golgi vesicle-mediated transport|intracellular protein transport endoplasmic reticulum membrane|Golgi membrane|integral to membrane SNAP receptor activity large_intestine(1)|lung(3)|upper_aerodigestive_tract(1) 5 UCEC - Uterine corpus endometrioid carcinoma (64;0.0534) TTGATATTTTCAGTTGCCCCC 0.468000 29 155 0 0 1 0 0 DBP 1628 broad.mit.edu 37 19 49134122 49134122 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:49134122C>T ENST00000222122.5 - 4 1393 c.950G>A c.(949-951)cGa>cAa p.R317Q DBP_ENST00000593500.1_Missense_Mutation_p.R115Q|DBP_ENST00000599385.1_Missense_Mutation_p.R115Q NM_001352.3 NP_001343.2 Q10586 DBP_HUMAN D site of albumin promoter (albumin D-box) binding protein 317 regulation of transcription from RNA polymerase II promoter|rhythmic process nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1) 5 all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155) GGCCTGGTATCGGGACAGCAC 0.687000 5 8 0 0 1 0 0 SHANK1 50944 broad.mit.edu 37 19 51191246 51191246 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:51191246T>C ENST00000293441.1 - 17 2260 c.2242A>G c.(2242-2244)Acg>Gcg p.T748A SHANK1_ENST00000391814.1_Missense_Mutation_p.T748A|SHANK1_ENST00000391813.1_Missense_Mutation_p.T135A|SHANK1_ENST00000359082.3_Missense_Mutation_p.T739A NM_016148.2 NP_057232.2 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 748 PDZ. cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 64 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) ACCATCAGCGTGTTGCCCCCT 0.607000 32 65 0 0 1 0 0 HEY2 23493 broad.mit.edu 37 6 126080822 126080822 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:126080822A>G ENST00000368364.3 + 5 1085 c.888A>G c.(886-888)gcA>gcG p.A296A HEY2_ENST00000368365.1_Silent_p.A250A NM_012259.2 NP_036391.1 Q9UBP5 HEY2_HUMAN hes-related family bHLH transcription factor with YRPW motif 2 296 Ala-rich. negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent transcriptional repressor complex histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding breast(1)|large_intestine(7)|lung(5)|prostate(1) 14 UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193) CAGCAGCAGCAGTGGCCGCGG 0.642000 14 239 0 0 1 0 0 GMPS 8833 broad.mit.edu 37 3 155632272 155632272 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:155632272A>G ENST00000496455.1 + 8 1286 c.951A>G c.(949-951)agA>agG p.R317R GMPS_ENST00000295920.7_Silent_p.R218R NM_003875.2 NP_003866.1 P49915 GUAA_HUMAN guanine monphosphate synthase 317 glutamine metabolic process|purine base biosynthetic process cytosol ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) ATGAAGATAGAACCCCACGGA 0.363000 T MLL AML 31 73 0 0 1 0 0 SLC5A5 6528 broad.mit.edu 37 19 17994513 17994513 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:17994513C>T ENST00000222248.3 + 11 1613 c.1266C>T c.(1264-1266)gtC>gtT p.V422V NM_000453.2 NP_000444.1 Q92911 SC5A5_HUMAN solute carrier family 5 (sodium/iodide cotransporter), member 5 422 cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process integral to membrane|nucleus|plasma membrane iodide transmembrane transporter activity|sodium:iodide symporter activity NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3) 31 TCATGGGAGTCATCAGCGGCC 0.682000 35 120 0 0 1 0 0 ZNF195 7748 broad.mit.edu 37 11 3392921 3392921 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:3392921A>G ENST00000354599.6 - 2 120 c.16T>C c.(16-18)Ttc>Ctc p.F6L ZNF195_ENST00000429541.2_Missense_Mutation_p.F10L|ZNF195_ENST00000399602.4_Missense_Mutation_p.F6L|ZNF195_ENST00000528796.1_Missense_Mutation_p.F6L|ZNF195_ENST00000343338.7_Missense_Mutation_p.F10L|ZNF195_ENST00000527386.1_5'UTR|ZNF195_ENST00000526601.1_Missense_Mutation_p.F10L|ZNF195_ENST00000438262.2_Missense_Mutation_p.F10L|ZNF195_ENST00000005082.9_Missense_Mutation_p.F6L NM_001242843.1|NM_001256825.1|NM_007152.4 NP_001229772.1|NP_001243754.1|NP_009083.2 O14628 ZN195_HUMAN zinc finger protein 195 0 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1) 17 Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965) BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2) ACATCCCTGAACGTCAACAGA 0.443000 4 124 0 0 1 0 0 SAR1A 56681 broad.mit.edu 37 10 71912253 71912253 + Nonsense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:71912253C>T ENST00000373238.1 - 7 933 c.576G>A c.(574-576)tgG>tgA p.W192* SAR1A_ENST00000458634.2_Nonsense_Mutation_p.W149*|SAR1A_ENST00000373242.1_Nonsense_Mutation_p.W192*|SAR1A_ENST00000373241.4_Nonsense_Mutation_p.W192*|SAR1A_ENST00000431664.2_Nonsense_Mutation_p.W192* Q9NR31 SAR1A_HUMAN SAR1 homolog A (S. cerevisiae) 192 ER to Golgi vesicle-mediated transport|intracellular protein transport Golgi apparatus GTP binding|GTPase activity NS(1)|endometrium(1)|large_intestine(1)|lung(3) 6 ACTGGGAGAGCCAGCGGAAAC 0.463000 15 61 0 0 1 0 0 RIPK4 54101 broad.mit.edu 37 21 43165917 43165917 + Splice_Site SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr21:43165917A>G ENST00000352483.2 - 7 1145 c.e7+1 RIPK4_ENST00000332512.3_Splice_Site|RIPK4_ENST00000544709.1_Splice_Site|RIPK4_ENST00000542057.1_Splice_Site Q96T11 Q96T11_HUMAN receptor-interacting serine-threonine kinase 4 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 AGGACTCGTTACCTCGCTCCT 0.567000 41 91 0 0 1 0 0 EHMT1 79813 broad.mit.edu 37 9 140729234 140729234 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:140729234T>C ENST00000460843.1 + 27 3753 c.3726T>C c.(3724-3726)taT>taC p.Y1242Y NM_024757.4 NP_079033.4 Q9H9B1 EHMT1_HUMAN euchromatic histone-lysine N-methyltransferase 1 1242 Interaction with histone H3.|SET. DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 all_cancers(76;0.164) OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728) GGTTTGACTATGGAGAGCGCT 0.607000 17 45 0 0 1 0 0 MFN1 55669 broad.mit.edu 37 3 179080157 179080157 + Silent SNP A A G rs149335403 byFrequency TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:179080157A>G ENST00000471841.1 + 5 549 c.423A>G c.(421-423)caA>caG p.Q141Q MFN1_ENST00000280653.7_Silent_p.Q141Q|MFN1_ENST00000263969.5_Silent_p.Q141Q NM_033540.2 NP_284941.2 Q8IWA4 MFN1_HUMAN mitofusin 1 141 mitochondrial fusion integral to membrane|mitochondrial outer membrane GTP binding|GTPase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1) 31 all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923) CAGTTAATCAACTGGCCCATG 0.363000 17 69 0 0 1 0 0 AGRN 375790 broad.mit.edu 37 1 983025 983025 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:983025G>A ENST00000379370.2 + 21 3639 c.3589G>A c.(3589-3591)Ggc>Agc p.G1197S NM_198576.3 NP_940978.2 O00468 AGRIN_HUMAN agrin 1197 SEA. axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering basal lamina laminin binding|structural constituent of cytoskeleton breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 42 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201) CCTGGGGCCCGGCAAATCCGT 0.617000 4 110 0 0 1 0 0 MAP3K4 4216 broad.mit.edu 37 6 161512474 161512474 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:161512474A>G ENST00000392142.4 + 12 3185 c.3037A>G c.(3037-3039)Aca>Gca p.T1013A MAP3K4_ENST00000348824.7_Missense_Mutation_p.T1013A|MAP3K4_ENST00000366920.2_Missense_Mutation_p.T1013A|MAP3K4_ENST00000366919.2_Missense_Mutation_p.T1013A NM_005922.2 NP_005913.2 Q9Y6R4 M3K4_HUMAN mitogen-activated protein kinase kinase kinase 4 1013 activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1) 77 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) CCACATGTTCACATCAGAATT 0.423000 54 158 0 0 1 0 0 FSD2 123722 broad.mit.edu 37 15 83455722 83455722 + Missense_Mutation SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:83455722C>A ENST00000334574.8 - 2 602 c.421G>T c.(421-423)Ggc>Tgc p.G141C FSD2_ENST00000541889.1_Missense_Mutation_p.G141C A1L4K1 FSD2_HUMAN fibronectin type III and SPRY domain containing 2 141 breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10) 18 TGGCACTGGCCTGCTGAGCCC 0.602000 22 92 1.55469e-16 1.63288e-16 1 1 0 CHST2 9435 broad.mit.edu 37 3 142840276 142840276 + Silent SNP G G C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:142840276G>C ENST00000309575.3 + 2 2002 c.618G>C c.(616-618)ccG>ccC p.P206P NM_004267.4 NP_004258.2 Q9Y4C5 CHST2_HUMAN carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2 206 inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process integral to membrane|intrinsic to Golgi membrane|trans-Golgi network N-acetylglucosamine 6-O-sulfotransferase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2) 22 AACTGTATCCGGGGGACGCCG 0.602000 50 126 0 0 1 0 0 IL7 3574 broad.mit.edu 37 8 79646036 79646036 + Missense_Mutation SNP T T G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:79646036T>G ENST00000263851.4 - 6 1046 c.446A>C c.(445-447)aAa>aCa p.K149T IL7_ENST00000520269.1_Missense_Mutation_p.K105T|IL7_ENST00000519833.1_Intron|IL7_ENST00000541183.1_Missense_Mutation_p.K36T NM_000880.3|NM_001199886.1|NM_001199887.1 NP_000871.1|NP_001186815.1|NP_001186816.1 P13232 IL7_HUMAN interleukin 7 149 bone resorption|cell-cell signaling|humoral immune response|organ morphogenesis|positive regulation of B cell proliferation|positive regulation of T cell differentiation extracellular space cytokine activity|growth factor activity|interleukin-7 receptor binding endometrium(2)|large_intestine(2)|lung(1) 5 GTCATTCAGTTTTTTCTGTTC 0.244000 10 76 0 0 1 0 0 ABCE1 6059 broad.mit.edu 37 4 146031549 146031549 + Missense_Mutation SNP A A C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:146031549A>C ENST00000296577.4 + 7 1081 c.566A>C c.(565-567)gAc>gCc p.D189A ABCE1_ENST00000502803.1_Intron NM_001040876.1|NM_002940.2 NP_001035809.1|NP_002931.2 P61221 ABCE1_HUMAN ATP-binding cassette, sub-family E (OABP), member 1 189 ABC transporter 1. interspecies interaction between organisms|response to virus|RNA catabolic process mitochondrion ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3) 18 all_hematologic(180;0.151) TCTATTTTGGACCGAAAAGAT 0.299000 40 102 0 0 1 0 0 LSM14A 26065 broad.mit.edu 37 19 34687588 34687588 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:34687588G>A ENST00000544216.3 + 3 412 c.335G>A c.(334-336)gGa>gAa p.G112E LSM14A_ENST00000540746.2_Missense_Mutation_p.G112E|LSM14A_ENST00000433627.5_Missense_Mutation_p.G112E NM_015578.2 NP_056393.2 Q8ND56 LS14A_HUMAN LSM14A, SCD6 homolog A (S. cerevisiae) 112 cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1) 22 Esophageal squamous(110;0.162) GGTTCTTATGGACCTTTCGGC 0.433000 47 126 0 0 1 0 0 LPHN2 23266 broad.mit.edu 37 1 82372869 82372869 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:82372869A>G ENST00000370728.1 + 6 886 c.241A>G c.(241-243)Aat>Gat p.N81D LPHN2_ENST00000370713.1_Missense_Mutation_p.N81D|LPHN2_ENST00000319517.6_Missense_Mutation_p.N81D|LPHN2_ENST00000370730.1_Missense_Mutation_p.N81D|LPHN2_ENST00000370725.1_Missense_Mutation_p.N81D|LPHN2_ENST00000370721.1_Missense_Mutation_p.N81D|LPHN2_ENST00000370727.1_Missense_Mutation_p.N81D|LPHN2_ENST00000271029.4_Missense_Mutation_p.N81D|LPHN2_ENST00000370715.1_Missense_Mutation_p.N81D|LPHN2_ENST00000394879.1_Missense_Mutation_p.N81D|LPHN2_ENST00000359929.3_Missense_Mutation_p.N81D|LPHN2_ENST00000370717.2_Missense_Mutation_p.N81D|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000370723.1_Missense_Mutation_p.N81D|LPHN2_ENST00000335786.5_Missense_Mutation_p.N81D O95490 LPHN2_HUMAN latrophilin 2 81 SUEL-type lectin. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) TCAGATGGAGAATACAGACTG 0.423000 4 147 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9024886 9024886 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:9024886T>C ENST00000397910.4 - 16 37179 c.36976A>G c.(36976-36978)Acc>Gcc p.T12326A NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 12328 SEA 2. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 ATGTCATTGGTCAGTTTGCTT 0.557000 68 212 0 0 1 0 0 OR56B4 196335 broad.mit.edu 37 11 6129910 6129910 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:6129910A>G ENST00000316529.3 + 1 997 c.902A>G c.(901-903)cAc>cGc p.H301R RP11-290F24.3_ENST00000529961.1_RNA NM_001005181.1 NP_001005181.1 Q8NH76 O56B4_HUMAN olfactory receptor, family 56, subfamily B, member 4 301 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2) 21 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTCAGGATGCACAAACTCAGA 0.493000 54 118 0 0 1 0 0 TADA2A 6871 broad.mit.edu 37 17 35830624 35830624 + Missense_Mutation SNP G G A rs149845906 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:35830624G>A ENST00000394395.2 + 13 1189 c.1016G>A c.(1015-1017)cGg>cAg p.R339Q TADA2A_ENST00000591992.1_3'UTR|TADA2A_ENST00000225396.6_Missense_Mutation_p.R339Q NM_001166105.1 NP_001159577.1 O75478 TAD2A_HUMAN transcriptional adaptor 2A 339 histone H3 acetylation|transcription from RNA polymerase II promoter chromosome|PCAF complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding p.R339Q(2) breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1) 13 TGGCTCCGCCGGCAAGCTGAC 0.512000 4 119 0 0 1 0 0 EIF4E 1977 broad.mit.edu 37 4 99809056 99809056 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:99809056T>C ENST00000450253.2 - 4 1793 c.269A>G c.(268-270)gAc>gGc p.D90G EIF4E_ENST00000280892.6_Missense_Mutation_p.D110G|EIF4E_ENST00000505992.1_Missense_Mutation_p.D90G|EIF4E_ENST00000504432.1_Missense_Mutation_p.D118G NM_001968.3 NP_001959.1 P06730 IF4E_HUMAN eukaryotic translation initiation factor 4E 90 G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|interspecies interaction between organisms|mRNA export from nucleus|nuclear-transcribed mRNA poly(A) tail shortening|positive regulation of mitotic cell cycle|regulation of translation cytoplasmic mRNA processing body|cytosol|eukaryotic translation initiation factor 4F complex|mRNA cap binding complex|RNA-induced silencing complex protein binding|RNA cap binding|translation initiation factor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1) 13 OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)|LUSC - Lung squamous cell carcinoma(721;0.00227) AAGTGAGTAGTCACAGCCAGG 0.294000 8 20 0 0 1 0 0 PCDHB14 56122 broad.mit.edu 37 5 140605320 140605320 + Missense_Mutation SNP G G C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:140605320G>C ENST00000239449.4 + 1 2243 c.2243G>C c.(2242-2244)aGc>aCc p.S748T PCDHB14_ENST00000515856.2_Missense_Mutation_p.S595T NM_018934.2 NP_061757.1 Q9Y5E9 PCDBE_HUMAN 748 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTGTCCCAGAGCTACCAATAC 0.582000 54 214 0 0 1 0 0 GSDMD 79792 broad.mit.edu 37 8 144644191 144644191 + Missense_Mutation SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:144644191A>T ENST00000526406.1 + 11 1769 c.886A>T c.(886-888)Acc>Tcc p.T296S GSDMD_ENST00000262580.4_Missense_Mutation_p.T296S|GSDMD_ENST00000533063.1_Missense_Mutation_p.T344S NM_001166237.1 NP_001159709.1 P57764 GSDMD_HUMAN gasdermin D 296 breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 12 AGAGGTGGAGACCATCTCCAA 0.642000 18 88 0 0 1 0 0 ZNF268 10795 broad.mit.edu 37 12 133779106 133779106 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:133779106C>T ENST00000536435.2 + 6 1164 c.834C>T c.(832-834)tgC>tgT p.C278C ZNF268_ENST00000228289.5_Silent_p.C278C|ZNF268_ENST00000536899.2_3'UTR|ZNF268_ENST00000537565.1_Silent_p.C117C|ZNF268_ENST00000542711.2_3'UTR|ZNF268_ENST00000541009.2_3'UTR|ZNF268_ENST00000542986.2_3'UTR NM_001165885.1|NM_003415.2 NP_001159357.1|NP_003406.1 Q14587 ZN268_HUMAN zinc finger protein 268 278 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1) 24 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;0.000215)|all_epithelial(31;0.096) OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05) CCTTTGGATGCAGCTGTTGTG 0.403000 5 12 0 0 1 0 0 RAG1 5896 broad.mit.edu 37 11 36594923 36594923 + Missense_Mutation SNP T T G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:36594923T>G ENST00000299440.5 + 2 181 c.69T>G c.(67-69)atT>atG p.I23M NM_000448.2 NP_000439.1 P15918 RAG1_HUMAN recombination activating gene 1 23 Interaction with importin alpha-1. histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 65 all_lung(20;0.226) all_hematologic(20;0.107) ACCCACATATTAAATTTTCAG 0.448000 Familial Hemophagocytic Lymphohistiocytosis 4 106 0 0 1 0 0 BHLHE22 27319 broad.mit.edu 37 8 65493811 65493811 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:65493811G>A ENST00000321870.1 + 1 998 c.464G>A c.(463-465)cGc>cAc p.R155H RP11-21C4.1_ENST00000517909.1_RNA NM_152414.4 NP_689627.1 Q8NFJ8 BHE22_HUMAN basic helix-loop-helix family, member e22 155 Gly-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1) 5 AGCGACGGTCGCTGCGAGCTC 0.751000 8 10 0 0 1 0 0 DAGLB 221955 broad.mit.edu 37 7 6476142 6476142 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:6476142C>T ENST00000297056.6 - 3 439 c.270G>A c.(268-270)ccG>ccA p.P90P DAGLB_ENST00000436575.1_Silent_p.P49P|DAGLB_ENST00000425398.2_Silent_p.P90P|DAGLB_ENST00000428902.2_Intron|DAGLB_ENST00000421761.2_Intron|DAGLB_ENST00000479922.2_5'UTR NM_139179.3 NP_631918.3 Q8NCG7 DGLB_HUMAN diacylglycerol lipase, beta 90 lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2) 26 Ovarian(82;0.232) UCEC - Uterine corpus endometrioid carcinoma (126;0.102) TAGACTTCCGCGGTCCAGGGT 0.498000 43 127 0 0 1 0 0 CPXM1 56265 broad.mit.edu 37 20 2776744 2776744 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:2776744T>C ENST00000380605.2 - 10 1370 c.1306A>G c.(1306-1308)Aat>Gat p.N436D NM_001184699.1|NM_019609.4 NP_001171628.1|NP_062555.1 Q96SM3 CPXM1_HUMAN carboxypeptidase X (M14 family), member 1 436 cell adhesion|proteolysis metallocarboxypeptidase activity|zinc ion binding endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 TCAGCAAAATTATGGTTAAGA 0.577000 24 95 0 0 1 0 0 P4HA1 5033 broad.mit.edu 37 10 74770751 74770751 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:74770751A>G ENST00000412021.2 - 14 1746 c.1413T>C c.(1411-1413)gtT>gtC p.V471V P4HA1_ENST00000307116.2_Silent_p.V471V|P4HA1_ENST00000440381.1_Silent_p.V453V|P4HA1_ENST00000394890.2_Silent_p.V471V|P4HA1_ENST00000263556.3_Silent_p.V471V|P4HA1_ENST00000373008.2_Silent_p.V471V NM_001142595.1 NP_001136067.1 P13674 P4HA1_HUMAN prolyl 4-hydroxylase, alpha polypeptide I 471 Fe2OG dioxygenase. endoplasmic reticulum lumen|mitochondrion iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1) 15 Prostate(51;0.0198) Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) CACTAGCTCCAACTTCAGGAA 0.373000 21 70 0 0 1 0 0 HAUS6 54801 broad.mit.edu 37 9 19076689 19076689 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:19076689A>G ENST00000380502.3 - 11 1672 c.1205T>C c.(1204-1206)tTa>tCa p.L402S HAUS6_ENST00000380496.1_Missense_Mutation_p.L266S NM_017645.3 NP_060115.3 Q7Z4H7 HAUS6_HUMAN HAUS augmin-like complex, subunit 6 402 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|nucleus|spindle autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 CATTGGTGGTAAAAGATCTAC 0.338000 15 55 0 0 1 0 0 SLC39A5 283375 broad.mit.edu 37 12 56629106 56629106 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:56629106C>T ENST00000266980.4 + 5 1093 c.800C>T c.(799-801)cCg>cTg p.P267L SLC39A5_ENST00000454355.2_Missense_Mutation_p.P267L NM_001135195.1 NP_001128667.1 Q6ZMH5 S39A5_HUMAN solute carrier family 39 (zinc transporter), member 5 267 zinc ion transport basolateral plasma membrane|integral to membrane metal ion transmembrane transporter activity NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 CATCTGCTACCGCATGTATGT 0.607000 56 150 0 0 1 0 0 PDCD10 11235 broad.mit.edu 37 3 167405034 167405034 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:167405034A>G ENST00000392750.2 - 8 962 c.545T>C c.(544-546)tTt>tCt p.F182S PDCD10_ENST00000473645.2_Missense_Mutation_p.F182S|PDCD10_ENST00000471885.1_Missense_Mutation_p.F182S|PDCD10_ENST00000497056.2_Missense_Mutation_p.F182S|PDCD10_ENST00000461494.1_Missense_Mutation_p.F182S|PDCD10_ENST00000470131.1_Missense_Mutation_p.F182S|PDCD10_ENST00000492396.1_Missense_Mutation_p.F119S|PDCD10_ENST00000487947.2_Missense_Mutation_p.F182S NM_007217.3 NP_009148.2 Q9BUL8 PDC10_HUMAN programmed cell death 10 182 angiogenesis|apoptosis|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of MAP kinase activity cytosol|Golgi membrane|plasma membrane protein homodimerization activity|protein N-terminus binding central_nervous_system(1)|kidney(1)|lung(8)|urinary_tract(2) 12 GCCATCTTTAAAATACGTTTT 0.264000 16 35 0 0 1 0 0 MDH1B 130752 broad.mit.edu 37 2 207619851 207619851 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:207619851C>T ENST00000374412.3 - 5 1067 c.792G>A c.(790-792)aaG>aaA p.K264K MDH1B_ENST00000449792.1_Silent_p.K166K|MDH1B_ENST00000454776.2_Silent_p.K264K|MDH1B_ENST00000392214.2_Intron NM_001039845.1 NP_001034934.1 Q5I0G3 MDH1B_HUMAN malate dehydrogenase 1B, NAD (soluble) 264 carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle binding|malate dehydrogenase activity NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1) 34 LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145) GTAAAACTGTCTTCAGGTTTA 0.502000 33 106 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72821729 72821729 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:72821729G>A ENST00000268489.5 - 10 11118 c.10446C>T c.(10444-10446)agC>agT p.S3482S ZFHX3_ENST00000397992.5_Silent_p.S2568S NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 3482 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) ACTTCAGGTGGCTCCTCGCTG 0.642000 24 88 0 0 1 0 0 MZF1 7593 broad.mit.edu 37 19 59074233 59074233 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:59074233T>C ENST00000215057.2 - 6 1971 c.1411A>G c.(1411-1413)Aag>Gag p.K471E MZF1_ENST00000599369.1_Missense_Mutation_p.K471E|AC016629.8_ENST00000593642.1_RNA|MZF1_ENST00000594234.1_3'UTR|AC016629.8_ENST00000600534.1_RNA|AC016629.8_ENST00000600726.1_RNA NM_001267033.1|NM_198055.1 NP_001253962.1|NP_932172.1 P28698 MZF1_HUMAN myeloid zinc finger 1 471 Gly/Pro-rich. viral reproduction nucleus protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182) GCCGGGGGCTTAGCGCCAGGG 0.726000 5 9 0 0 1 0 0 IGF1R 3480 broad.mit.edu 37 15 99472871 99472871 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:99472871A>G ENST00000268035.6 + 14 3478 c.2867A>G c.(2866-2868)tAc>tGc p.Y956C IGF1R_ENST00000558762.1_Missense_Mutation_p.Y955C NM_000875.3 NP_000866.1 P08069 IGF1R_HUMAN insulin-like growth factor 1 receptor 956 anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization microsome ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277) ATTATGCTGTACGTCTTCCAT 0.448000 18 75 0 0 1 0 0 IFT122 55764 broad.mit.edu 37 3 129236439 129236439 + Splice_Site SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:129236439T>C ENST00000296266.3 + 28 3736 c.e28+2 IFT122_ENST00000440957.2_Splice_Site|IFT122_ENST00000348417.2_Splice_Site|IFT122_ENST00000431818.2_Splice_Site|IFT122_ENST00000347300.2_Splice_Site|IFT122_ENST00000349441.2_Splice_Site|IFT122_ENST00000507564.1_Splice_Site|IFT122_ENST00000504021.1_Splice_Site NM_052985.2 NP_443711.2 Q9HBG6 IF122_HUMAN intraflagellar transport 122 homolog (Chlamydomonas) camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure microtubule basal body|photoreceptor connecting cilium breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 CAAACAACAGTATCCATGCCC 0.602000 44 119 0 0 1 0 0 EHD1 10938 broad.mit.edu 37 11 64622229 64622229 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:64622229A>G ENST00000320631.3 - 5 1435 c.1181T>C c.(1180-1182)aTg>aCg p.M394T EHD1_ENST00000488711.1_5'UTR|EHD1_ENST00000359393.2_Missense_Mutation_p.M394T NM_006795.2 NP_006786.2 Q9H4M9 EHD1_HUMAN EH-domain containing 1 394 blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1) 12 CACCATCACCATCAGCCGCGC 0.642000 107 304 0 0 1 0 0 GRIK5 2901 broad.mit.edu 37 19 42510946 42510946 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:42510946T>C ENST00000262895.3 - 15 1887 c.1888A>G c.(1888-1890)Atc>Gtc p.I630V GRIK5_ENST00000593562.1_Missense_Mutation_p.I630V|GRIK5_ENST00000301218.4_Missense_Mutation_p.I630V NM_002088.4 NP_002079.3 Q16478 GRIK5_HUMAN glutamate receptor, ionotropic, kainate 5 630 cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 35 Prostate(69;0.059) L-Glutamic Acid(DB00142) GAGATGATGATCAAGGTGAAG 0.652000 6 39 0 0 1 0 0 SRRM2 23524 broad.mit.edu 37 16 2816806 2816806 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:2816806C>T ENST00000301740.8 + 11 6826 c.6277C>T c.(6277-6279)Cct>Tct p.P2093S NM_016333.3 NP_057417.3 Q9UQ35 SRRM2_HUMAN serine/arginine repetitive matrix 2 2093 Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 ATCTGCTACTCCTCCAGCAAC 0.517000 31 241 0 0 1 0 0 PENK 5179 broad.mit.edu 37 8 57358360 57358360 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:57358360G>A ENST00000518770.1 - 3 306 c.153C>T c.(151-153)cgC>cgT p.R51R PENK_ENST00000451791.2_Intron|PENK_ENST00000523051.1_Intron|PENK_ENST00000314922.3_Intron P01210 PENK_HUMAN proenkephalin 47 neuropeptide signaling pathway extracellular region neuropeptide hormone activity|opioid peptide activity central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 21 all_lung(136;0.229) Epithelial(17;0.000873)|all cancers(17;0.0069) AACACTCGCCGCGCGCAACAC 0.677000 84 123 0 0 1 0 0 MAP3K3 4215 broad.mit.edu 37 17 61769157 61769157 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:61769157C>T ENST00000361357.3 + 15 1820 c.1502C>T c.(1501-1503)aCg>aTg p.T501M MAP3K3_ENST00000579585.1_Missense_Mutation_p.T501M|MAP3K3_ENST00000577395.1_Missense_Mutation_p.T466M|MAP3K3_ENST00000361733.3_Missense_Mutation_p.T470M|MAP3K3_ENST00000584573.1_Missense_Mutation_p.T497M NM_203351.1 NP_976226.1 Q99759 M3K3_HUMAN mitogen-activated protein kinase kinase kinase 3 470 Protein kinase. MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation cytosol ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 28 CGAAAGTACACGCGGCAGATC 0.577000 78 215 0 0 1 0 0 WWP1 11059 broad.mit.edu 37 8 87474017 87474017 + Missense_Mutation SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:87474017C>A ENST00000517970.1 + 24 2918 c.2611C>A c.(2611-2613)Caa>Aaa p.Q871K WWP1_ENST00000265428.4_Missense_Mutation_p.Q871K|WWP1_ENST00000341922.2_Missense_Mutation_p.Q741K|WWP1_ENST00000349423.2_Missense_Mutation_p.Q653K NM_007013.3 NP_008944.1 Q9H0M0 WWP1_HUMAN WW domain containing E3 ubiquitin protein ligase 1 871 HECT. central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1) 31 TAATGGGCCTCAAAAGTTTTG 0.363000 48 101 2.43468e-25 2.57753e-25 1 1 0 FCRL5 83416 broad.mit.edu 37 1 157509085 157509085 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:157509085G>A ENST00000361835.3 - 7 1350 c.1193C>T c.(1192-1194)aCa>aTa p.T398I FCRL5_ENST00000356953.4_Missense_Mutation_p.T398I|FCRL5_ENST00000368190.3_Missense_Mutation_p.T398I|FCRL5_ENST00000368191.3_Missense_Mutation_p.T313I|FCRL5_ENST00000368189.3_Missense_Mutation_p.T398I NM_001195388.1|NM_031281.2 NP_001182317.1|NP_112571.2 Q96RD9 FCRL5_HUMAN Fc receptor-like 5 398 Ig-like C2-type 4. integral to membrane|plasma membrane receptor activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 85 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) ACAGTGAAGTGTCACCTTGGC 0.522000 17 60 0 0 1 0 0 BMPER 168667 broad.mit.edu 37 7 34125525 34125525 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:34125525T>C ENST00000297161.2 + 14 1940 c.1566T>C c.(1564-1566)ttT>ttC p.F522F BMPER_ENST00000426693.1_Silent_p.F522F NM_133468.4 NP_597725.1 Q8N8U9 BMPER_HUMAN BMP binding endothelial regulator 522 VWFD. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 TGGATGACTTTGCTGAATCTT 0.473000 26 74 0 0 1 0 0 TXNRD1 7296 broad.mit.edu 37 12 104705131 104705131 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:104705131T>C ENST00000526691.1 + 3 640 c.184T>C c.(184-186)Tcc>Ccc p.S62P TXNRD1_ENST00000503506.2_Missense_Mutation_p.S10P|TXNRD1_ENST00000354940.6_Missense_Mutation_p.S10P|TXNRD1_ENST00000378070.4_Missense_Mutation_p.S109P|TXNRD1_ENST00000427956.1_Missense_Mutation_p.S125P|TXNRD1_ENST00000429002.2_Missense_Mutation_p.S160P|TXNRD1_ENST00000525566.1_Missense_Mutation_p.S160P|TXNRD1_ENST00000388854.3_Missense_Mutation_p.S62P|TXNRD1_ENST00000397736.2_Missense_Mutation_p.S54P|TXNRD1_ENST00000524698.1_Missense_Mutation_p.S10P|TXNRD1_ENST00000526390.1_Missense_Mutation_p.S54P|TXNRD1_ENST00000542918.1_Missense_Mutation_p.S60P|TXNRD1_ENST00000540716.1_Intron|TXNRD1_ENST00000526950.1_Missense_Mutation_p.S79P|TXNRD1_ENST00000529546.1_Intron NM_001261445.1|NM_003330.3 NP_001248374.1|NP_003321.3 Q16881 TRXR1_HUMAN thioredoxin reductase 1 160 Glutaredoxin. cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport cytosol|nucleolus electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1) 16 TCTTCCCAAGTCCTATGACTA 0.438000 8 24 0 0 1 0 0 PRAMEF4 400735 broad.mit.edu 37 1 12939533 12939533 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:12939533A>G ENST00000235349.5 - 4 1339 c.1269T>C c.(1267-1269)ggT>ggC p.G423G NM_001009611.2 NP_001009611.1 O60810 PRAM4_HUMAN PRAME family member 4 423 breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1) 24 Ovarian(185;0.249) Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TACCATCAGCACCATAACTCT 0.512000 20 871 0 0 1 0 0 ZNF16 7564 broad.mit.edu 37 8 146157440 146157440 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:146157440T>C ENST00000276816.4 - 4 919 c.733A>G c.(733-735)Acc>Gcc p.T245A ZNF16_ENST00000394909.2_Missense_Mutation_p.T245A NM_001029976.2 NP_001025147.2 P17020 ZNF16_HUMAN zinc finger protein 16 245 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1) 29 all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;0.136) Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486) TGGCTGAAGGTTTTCCCACAA 0.463000 55 261 0 0 1 0 0 RBAK 57786 broad.mit.edu 37 7 5104851 5104851 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:5104851A>G ENST00000396912.1 + 5 2283 c.1764A>G c.(1762-1764)gtA>gtG p.V588V RBAK_ENST00000353796.3_Silent_p.V588V|RBAK_ENST00000407184.1_Intron|RBAK_ENST00000396904.2_Intron NM_021163.3 NP_066986.1 Q9NYW8 RBAK_HUMAN RB-associated KRAB zinc finger 588 Interaction with AR. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1) 10 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14) ATCAAAGAGTACACACAGGCG 0.378000 5 49 0 0 1 0 0 ZNF354B 117608 broad.mit.edu 37 5 178310089 178310089 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:178310089A>G ENST00000322434.3 + 5 862 c.636A>G c.(634-636)aaA>aaG p.K212K NM_058230.2 NP_478137.1 Q96LW1 Z354B_HUMAN zinc finger protein 354B 212 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1) 21 all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CAGCAGAGAAACGCTATAAAT 0.299000 29 102 0 0 1 0 0 PRKDC 5591 broad.mit.edu 37 8 48842449 48842449 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:48842449A>G ENST00000314191.2 - 18 2072 c.2016T>C c.(2014-2016)atT>atC p.I672I PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Silent_p.I672I NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 672 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) TTCTTACTGTAATAGAAAGCA 0.323000 Non-homologous end-joining 3 68 0 0 1 0 0 WDR4 10785 broad.mit.edu 37 21 44274700 44274700 + Missense_Mutation SNP C C G rs111539710 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr21:44274700C>G ENST00000398208.2 - 8 822 c.763G>C c.(763-765)Gag>Cag p.E255Q WDR4_ENST00000492742.1_5'UTR|WDR4_ENST00000330317.2_Missense_Mutation_p.E255Q NM_001260474.1|NM_001260475.1|NM_001260476.1|NM_018669.5 NP_001247403.1|NP_001247404.1|NP_001247405.1|NP_061139.2 P57081 WDR4_HUMAN WD repeat domain 4 255 tRNA modification cytoplasm|nucleoplasm protein binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|ovary(2) 11 Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244) ACGCAGTTCTCCTGGCACCAG 0.622000 10 34 0 0 1 0 0 ZCCHC3 85364 broad.mit.edu 37 20 279084 279084 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:279084A>G ENST00000382352.3 + 1 1348 c.857A>G c.(856-858)aAa>aGa p.K286R NM_033089.6 NP_149080.2 Q9NUD5 ZCHC3_HUMAN zinc finger, CCHC domain containing 3 286 nucleic acid binding|zinc ion binding endometrium(2)|large_intestine(1)|lung(3)|prostate(2) 8 all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.149) GTGCCGGTGAAAGTGACCGAC 0.617000 9 152 0 0 1 0 0 PARL 55486 broad.mit.edu 37 3 183584466 183584466 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:183584466C>T ENST00000317096.4 - 3 469 c.409G>A c.(409-411)Gct>Act p.A137T PARL_ENST00000435888.1_Missense_Mutation_p.A137T|PARL_ENST00000311101.5_Missense_Mutation_p.A137T NM_018622.5 NP_061092.3 Q9H300 PARL_HUMAN presenilin associated, rhomboid-like 137 A -> G (in dbSNP:rs4912470). proteolysis integral to membrane|mitochondrial inner membrane|nucleus serine-type endopeptidase activity endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1) 17 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) AACCAATCAGCTTTTATACCA 0.353000 17 75 0 0 1 0 0 ERBB2 2064 broad.mit.edu 37 17 37866346 37866346 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:37866346C>T ENST00000406381.2 + 8 1071 c.561C>T c.(559-561)cgC>cgT p.R187R ERBB2_ENST00000540147.1_Silent_p.R187R|ERBB2_ENST00000541774.1_Silent_p.R202R|ERBB2_ENST00000445658.2_Intron|ERBB2_ENST00000584601.1_Silent_p.R187R|ERBB2_ENST00000584450.1_Silent_p.R217R|ERBB2_ENST00000540042.1_Silent_p.R187R|ERBB2_ENST00000269571.5_Silent_p.R217R|ERBB2_ENST00000578199.1_Silent_p.R187R NM_001005862.1 NP_001005862.1 P04626 ERBB2_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 217 cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4) 247 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) CAGTGACGCGCACTGTCTGTG 0.662000 1 """A, Mis, O""" """breast, ovarian, other tumour types, NSCLC, gastric""" TCGA GBM(5;<1E-08) 61 116 0 0 1 0 0 OR13F1 138805 broad.mit.edu 37 9 107267222 107267222 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:107267222A>G ENST00000334726.2 + 1 768 c.679A>G c.(679-681)Aga>Gga p.R227G NM_001004485.1 NP_001004485.1 Q8NGS4 O13F1_HUMAN olfactory receptor, family 13, subfamily F, member 1 227 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 31 CAGTATCCTGAGAATCAGCTC 0.478000 4 186 0 0 1 0 0 TRHDE 29953 broad.mit.edu 37 12 72866908 72866908 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:72866908C>T ENST00000261180.4 + 5 1493 c.1397C>T c.(1396-1398)gCt>gTt p.A466V NM_013381.2 NP_037513.1 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 466 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 GAAGGGTTTGCTCACTACTTT 0.408000 6 227 0 0 1 0 0 RIMS4 140730 broad.mit.edu 37 20 43438825 43438825 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:43438825C>T ENST00000372851.3 - 1 154 c.88G>A c.(88-90)Gag>Aag p.E30K RIMS4_ENST00000541604.2_Missense_Mutation_p.E30K NM_001205317.1|NM_182970.3 NP_001192246.1|NP_892015.1 Q9H426 RIMS4_HUMAN regulating synaptic membrane exocytosis 4 30 exocytosis|neurotransmitter transport cell junction|synapse central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1) 29 Myeloproliferative disorder(115;0.0122) CCTGCGTCCTCGTCGTCGAAG 0.731000 6 18 0 0 1 0 0 PUM2 23369 broad.mit.edu 37 2 20497357 20497357 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:20497357A>G ENST00000361078.2 - 7 988 c.966T>C c.(964-966)gaT>gaC p.D322D PUM2_ENST00000403432.1_Silent_p.D322D|PUM2_ENST00000319801.5_Silent_p.D322D|PUM2_ENST00000536417.1_Silent_p.D266D|PUM2_ENST00000338086.5_Silent_p.D322D Q8TB72 PUM2_HUMAN pumilio RNA-binding family member 2 322 Ala-rich. regulation of translation perinuclear region of cytoplasm|stress granule protein binding|RNA binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3) 42 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CAGTATACGGATCGGTCCCTG 0.418000 9 27 0 0 1 0 0 RIMBP3 85376 broad.mit.edu 37 22 20458649 20458649 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr22:20458649G>A ENST00000426804.1 - 1 3137 c.2653C>T c.(2653-2655)Cgg>Tgg p.R885W NM_015672.1 NP_056487.1 RIMS binding protein 3 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 13 Colorectal(54;0.0993)|Melanoma(16;0.165) LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224) AGCCCCCGCCGGCCATCCTCA 0.597000 9 45 0 0 1 0 0 SDAD1 55153 broad.mit.edu 37 4 76891490 76891490 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:76891490T>C ENST00000356260.5 - 10 973 c.855A>G c.(853-855)tcA>tcG p.S285S SDAD1_ENST00000395711.4_Silent_p.S248S|SDAD1_ENST00000513089.1_5'UTR NM_018115.2 NP_060585.2 Q9NVU7 SDA1_HUMAN SDA1 domain containing 1 285 protein transport|ribosomal large subunit biogenesis nucleolus protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 19 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) AGTGAATGGCTGAAAAGTTAA 0.388000 14 57 0 0 1 0 0 CAPN7 23473 broad.mit.edu 37 3 15274052 15274052 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:15274052T>C ENST00000253693.2 + 10 1312 c.1059T>C c.(1057-1059)gtT>gtC p.V353V NM_014296.2 NP_055111.1 Q9Y6W3 CAN7_HUMAN calpain 7 353 Calpain catalytic. proteolysis nucleus calcium-dependent cysteine-type endopeptidase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2) 22 AGTTACCTGTTGATCACAAGG 0.343000 16 54 0 0 1 0 0 AHRR 57491 broad.mit.edu 37 5 427785 427785 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:427785T>C ENST00000316418.5 + 8 798 c.754T>C c.(754-756)Tgc>Cgc p.C252R AHRR_ENST00000505113.1_Intron|AHRR_ENST00000512529.1_Intron|AHRR_ENST00000506456.1_Intron NM_020731.4 NP_065782.2 A9YTQ3 AHRR_HUMAN aryl-hydrocarbon receptor repressor 240 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1) 20 Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863) GCTGCGGCTCTGCTGTCCCGA 0.607000 33 97 0 0 1 0 0 DNM2 1785 broad.mit.edu 37 19 10906067 10906067 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:10906067A>G ENST00000314646.5 + 9 1312 c.1148A>G c.(1147-1149)gAc>gGc p.D383G DNM2_ENST00000389253.4_Missense_Mutation_p.D383G|DNM2_ENST00000359692.6_Missense_Mutation_p.D383G|DNM2_ENST00000355667.6_Missense_Mutation_p.D383G|DNM2_ENST00000585892.1_Missense_Mutation_p.D383G|DNM2_ENST00000408974.4_Missense_Mutation_p.D383G P50570 DYN2_HUMAN dynamin 2 383 G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane GTP binding|GTPase activity|microtubule binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 42 Epithelial(33;4.17e-05)|all cancers(31;8.48e-05) GACGAGAAGGACTTACGACGG 0.567000 """F, N, Splice, Mis, O""" ETP ALL 33 96 0 0 1 0 0 ZNF335 63925 broad.mit.edu 37 20 44589503 44589503 + Splice_Site SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:44589503C>A ENST00000322927.2 - 11 1765 c.1665_splice c.e11+1 p.P555_splice ZNF335_ENST00000426788.1_Splice_Site_p.P400_splice NM_022095.3 NP_071378.1 Q9H4Z2 ZN335_HUMAN zinc finger protein 335 555 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Myeloproliferative disorder(115;0.0122) CCAGACTCACCGGATCTGGCC 0.582000 9 12 3.09899e-07 3.1815e-07 1 1 0 UBR5 51366 broad.mit.edu 37 8 103293654 103293654 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:103293654A>G ENST00000520539.1 - 41 6396 c.5790T>C c.(5788-5790)gaT>gaC p.D1930D UBR5_ENST00000521922.1_Silent_p.D1924D|UBR5_ENST00000220959.4_Silent_p.D1930D NM_015902.5 NP_056986.2 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 5 1930 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) CAGAATGCTCATCATTATGAG 0.423000 14 163 0 0 1 0 0 ZNF217 7764 broad.mit.edu 37 20 52198633 52198633 + Missense_Mutation SNP C C T rs150961799 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:52198633C>T ENST00000371471.2 - 2 1158 c.733G>A c.(733-735)Ggt>Agt p.G245S ZNF217_ENST00000302342.3_Missense_Mutation_p.G245S O75362 ZN217_HUMAN zinc finger protein 217 245 negative regulation of transcription, DNA-dependent histone deacetylase complex protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398) BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198) CTGCTGGTACCGAAAGCAGTT 0.483000 46 124 0 0 1 0 0 SIPA1L2 57568 broad.mit.edu 37 1 232601047 232601047 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:232601047C>T ENST00000366630.1 - 8 2717 c.2359G>A c.(2359-2361)Gca>Aca p.A787T SIPA1L2_ENST00000262861.4_Missense_Mutation_p.A787T Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 2 787 Rap-GAP. regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 103 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) GCATTTTCTGCATTGATTACT 0.468000 43 122 0 0 1 0 0 CHRNA3 1136 broad.mit.edu 37 15 78893979 78893979 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:78893979T>C ENST00000326828.5 - 5 1389 c.1005A>G c.(1003-1005)acA>acG p.T335T CHRNA3_ENST00000348639.3_Silent_p.T335T NM_000743.4 NP_000734.2 P32297 ACHA3_HUMAN cholinergic receptor, nicotinic, alpha 3 (neuronal) 335 activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 GCATTGTGTGTGTCGTCGGGG 0.522000 43 112 0 0 1 0 0 APC 324 broad.mit.edu 37 5 112174922 112174922 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:112174922A>G ENST00000457016.1 + 16 4011 c.3631A>G c.(3631-3633)Atg>Gtg p.M1211V APC_ENST00000508376.2_Missense_Mutation_p.M1211V|APC_ENST00000257430.4_Missense_Mutation_p.M1211V|CTC-554D6.1_ENST00000520401.1_Intron P25054 APC_HUMAN adenomatous polyposis coli 1211 Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.M1211fs*6(1)|p.K1192fs*3(1)|p.?(1) NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20) 3261 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) AACCGAACATATGTCTTCAAG 0.403000 12 """D, Mis, N, F, S""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis TSP Lung(16;0.13) 17 87 0 0 1 0 0 LAMA1 284217 broad.mit.edu 37 18 7032981 7032981 + Splice_Site SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr18:7032981A>G ENST00000389658.3 - 15 2257 c.e15+1 NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GAGAAGCGTCACCTCACAGGA 0.502000 7 14 0 0 1 0 0 SAFB2 9667 broad.mit.edu 37 19 5593976 5593976 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:5593976C>T ENST00000252542.4 - 15 2397 c.2133G>A c.(2131-2133)gaG>gaA p.E711E NM_014649.2 NP_055464.1 Q14151 SAFB2_HUMAN scaffold attachment factor B2 711 Arg-rich.|Glu-rich.|Interacts with SAFB1. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|nucleotide binding|protein binding|RNA binding endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 UCEC - Uterine corpus endometrioid carcinoma (162;0.000228) GGCGCCGCAGCTCCTCGCGCT 0.741000 4 9 0 0 1 0 0 MDN1 23195 broad.mit.edu 37 6 90432762 90432762 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:90432762A>G ENST00000369393.3 - 40 5994 c.5879T>C c.(5878-5880)gTt>gCt p.V1960A MDN1_ENST00000428876.1_Missense_Mutation_p.V1960A Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 1960 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) GGACTGGTCAACCAGCATCAA 0.473000 6 276 0 0 1 0 0 EXOC4 60412 broad.mit.edu 37 7 132973733 132973733 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:132973733C>T ENST00000253861.4 + 3 363 c.334C>T c.(334-336)Cgg>Tgg p.R112W EXOC4_ENST00000393161.2_Missense_Mutation_p.R112W|EXOC4_ENST00000539845.1_Missense_Mutation_p.R11W NM_021807.3 NP_068579.3 Q96A65 EXOC4_HUMAN exocyst complex component 4 112 vesicle docking involved in exocytosis exocyst protein N-terminus binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 50 Esophageal squamous(399;0.129) GGATGAGCTTCGGAAACTGTG 0.433000 24 77 0 0 1 0 0 ZNF788 388507 broad.mit.edu 37 19 12223763 12223763 + Silent SNP T T G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:12223763T>G ENST00000339302.4 + 3 2038 c.1401T>G c.(1399-1401)acT>acG p.T467T ZNF788_ENST00000430298.2_3'UTR|ZNF788_ENST00000397759.3_Silent_p.T86T|ZNF20_ENST00000600335.1_Intron zinc finger family member 788 endometrium(1)|haematopoietic_and_lymphoid_tissue(1) 2 ATGAAATGACTCACACTGGAG 0.448000 4 33 0 0 1 0 0 SEPT7 989 broad.mit.edu 37 7 35913282 35913282 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:35913282A>G ENST00000494488.2 + 5 367 c.367A>G c.(367-369)Aaa>Gaa p.K123E SEPT7_ENST00000399034.2_Missense_Mutation_p.K138E|SEPT7_ENST00000435235.1_Missense_Mutation_p.K84E|SEPT7_ENST00000399035.3_Missense_Mutation_p.K136E|SEPT7_ENST00000469679.2_Missense_Mutation_p.K136E|SEPT7_ENST00000350320.6_Missense_Mutation_p.K136E|SEPT7_ENST00000475109.1_3'UTR Q16181 SEPT7_HUMAN septin 7 137 cilium morphogenesis|cytokinesis|mitosis|protein heterooligomerization|regulation of embryonic cell shape cilium axoneme|cleavage furrow|condensed chromosome kinetochore|midbody|nucleus|septin complex|spindle|stress fiber GTP binding|protein binding|structural molecule activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1) 14 CATTGATAGTAAATTTGAGGA 0.393000 5 24 0 0 1 0 0 DGKD 8527 broad.mit.edu 37 2 234378054 234378054 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:234378054T>C ENST00000264057.2 + 30 3605 c.3593T>C c.(3592-3594)aTc>aCc p.I1198T DGKD_ENST00000409813.3_Missense_Mutation_p.I1154T NM_152879.2 NP_690618.2 Q16760 DGKD_HUMAN diacylglycerol kinase, delta 130kDa 1198 SAM. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1) 38 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538) Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655) Phosphatidylserine(DB00144) ATGAAGAGGATCCTGTGTGGC 0.662000 3 16 0 0 1 0 0 C9orf9 11092 broad.mit.edu 37 9 135759426 135759426 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:135759426A>G ENST00000372136.3 + 2 539 c.92A>G c.(91-93)cAc>cGc p.H31R C9orf9_ENST00000356311.5_Missense_Mutation_p.H31R|C9orf9_ENST00000350499.6_Missense_Mutation_p.H31R Q96E40 CI009_HUMAN chromosome 9 open reading frame 9 31 p.?(1) cervix(1)|large_intestine(1)|lung(1)|prostate(1) 4 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|GBM - Glioblastoma multiforme(294;4.84e-07)|Epithelial(140;1.28e-06) GCTCTGGAGCACTGCAGGGAG 0.612000 19 69 0 0 1 0 0 GYS2 2998 broad.mit.edu 37 12 21721940 21721940 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:21721940T>C ENST00000261195.2 - 5 936 c.682A>G c.(682-684)Aac>Gac p.N228D NM_021957.3 NP_068776.2 P54840 GYS2_HUMAN glycogen synthase 2 (liver) 228 glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction glycogen (starch) synthase activity|protein homodimerization activity NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 TTGTCAATGTTAAACTGTTAG 0.433000 31 81 0 0 1 0 0 CNDP1 84735 broad.mit.edu 37 18 72238438 72238438 + Missense_Mutation SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr18:72238438G>T ENST00000582365.1 + 6 711 c.645G>T c.(643-645)caG>caT p.Q215H CNDP1_ENST00000358821.3_Missense_Mutation_p.Q258H Q96KN2 CNDP1_HUMAN carnosine dipeptidase 1 (metallopeptidase M20 family) 258 proteolysis extracellular region carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211) BRCA - Breast invasive adenocarcinoma(31;0.109) GCAGAGACCAGGATTTTCACT 0.403000 22 84 2.41591e-17 2.54096e-17 1 1 0 MRE11A 4361 broad.mit.edu 37 11 94224061 94224061 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:94224061C>T ENST00000323929.3 - 3 313 c.91G>A c.(91-93)Gtc>Atc p.V31I MRE11A_ENST00000536144.1_5'UTR|MRE11A_ENST00000407439.3_Missense_Mutation_p.V34I|MRE11A_ENST00000540013.1_Missense_Mutation_p.V31I|MRE11A_ENST00000323977.3_Missense_Mutation_p.V31I|MRE11A_ENST00000393241.4_Missense_Mutation_p.V31I NM_005591.3 NP_005582.1 P49959 MRE11_HUMAN MRE11 meiotic recombination 11 homolog A (S. cerevisiae) 31 V -> A (in Ref. 1; AAC78721). DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase Mre11 complex|nucleoplasm 3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 29 Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824) TTTCCTCTGACTGCATCTTTC 0.313000 Homologous recombination Ataxia-Telangiectasia-Like Disorder 19 54 0 0 1 0 0 DCHS2 54798 broad.mit.edu 37 4 155219642 155219642 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:155219642C>T ENST00000357232.3 - 18 4458 c.4459G>A c.(4459-4461)Gtg>Atg p.V1487M NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 1487 Cadherin 13. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) TCTTCTCTCACAGAGGACTGG 0.463000 50 145 0 0 1 0 0 TEKT1 83659 broad.mit.edu 37 17 6704170 6704170 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:6704170C>T ENST00000338694.2 - 7 1074 c.945G>A c.(943-945)acG>acA p.T315T TEKT1_ENST00000535086.1_Silent_p.T169T NM_053285.1 NP_444515.1 Q969V4 TEKT1_HUMAN tektin 1 315 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1) 20 Myeloproliferative disorder(207;0.0255) TCTCCAAGCGCGTATGAGCCA 0.502000 OREG0024124 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 57 179 0 0 1 0 0 FBXO38 81545 broad.mit.edu 37 5 147781675 147781675 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:147781675C>T ENST00000340253.5 + 4 561 c.393C>T c.(391-393)gtC>gtT p.V131V FBXO38_ENST00000394370.3_Silent_p.V131V|FBXO38_ENST00000509699.2_3'UTR|FBXO38_ENST00000513826.1_Silent_p.V131V|FBXO38_ENST00000296701.6_Silent_p.V131V Q6PIJ6 FBX38_HUMAN F-box protein 38 131 cytoplasm|nucleus ATG4C/FBXO38(2) NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1) 51 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTCCAGGAGTCCTAGAAGCTT 0.443000 13 168 0 0 1 0 0 DGKG 1608 broad.mit.edu 37 3 185986616 185986616 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:185986616G>A ENST00000265022.3 - 12 1629 c.1090C>T c.(1090-1092)Cgg>Tgg p.R364W DGKG_ENST00000544847.1_Intron|DGKG_ENST00000382164.4_Intron|DGKG_ENST00000344484.4_Missense_Mutation_p.R364W NM_001080744.1|NM_001080745.1|NM_001346.2 NP_001074213.1|NP_001074214.1|NP_001337.2 P49619 DGKG_HUMAN diacylglycerol kinase, gamma 90kDa 364 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 42 all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) GBM - Glioblastoma multiforme(93;0.0657) Phosphatidylserine(DB00144) ACGCAGTGCCGCGCGGTGACA 0.607000 6 33 0 0 1 0 0 SH3BP5L 80851 broad.mit.edu 37 1 249106318 249106318 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:249106318G>A ENST00000366472.5 - 7 2192 c.963C>T c.(961-963)agC>agT p.S321S SH3BP5L_ENST00000475978.1_5'UTR|SH3BP5L_ENST00000411742.2_Silent_p.S289S NM_030645.1 NP_085148.1 Q7L8J4 3BP5L_HUMAN SH3-binding domain protein 5-like 321 endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.19) OV - Ovarian serous cystadenocarcinoma(106;0.00805) CGGGCCCCAGGCTGCTGCCCT 0.716000 4 52 0 0 1 0 0 KIF18A 81930 broad.mit.edu 37 11 28104410 28104410 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:28104410T>C ENST00000263181.6 - 9 1545 c.1255A>G c.(1255-1257)Atc>Gtc p.I419V NM_031217.3 NP_112494.3 Q8NI77 KI18A_HUMAN kinesin family member 18A 419 blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2) 36 TACCTTTCGATTTCTTTTTCC 0.249000 11 29 0 0 1 0 0 IGFBPL1 347252 broad.mit.edu 37 9 38411462 38411462 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:38411462C>T ENST00000377694.1 - 4 794 c.772G>A c.(772-774)Gtg>Atg p.V258M NM_001007563.1 NP_001007564.1 Q8WX77 IBPL1_HUMAN insulin-like growth factor binding protein-like 1 258 Ig-like C2-type. regulation of cell growth extracellular region insulin-like growth factor binding endometrium(1)|lung(2)|upper_aerodigestive_tract(1) 4 GBM - Glioblastoma multiforme(29;0.0437)|Lung(182;0.116) AGAACCGTCACTGTGCTGTGG 0.498000 15 61 0 0 1 0 0 SUPT16H 11198 broad.mit.edu 37 14 21829058 21829058 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:21829058C>T ENST00000216297.2 - 17 2341 c.2003G>A c.(2002-2004)cGc>cAc p.R668H NM_007192.3 NP_009123.1 Q9Y5B9 SP16H_HUMAN suppressor of Ty 16 homolog (S. cerevisiae) 668 DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|nucleoplasm GTP binding breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_cancers(95;0.00115) Epithelial(56;1.62e-06)|all cancers(55;1.49e-05) GBM - Glioblastoma multiforme(265;0.0159) AATATTTGGGCGAATGTATAG 0.423000 28 64 0 0 1 0 0 DNAJC5B 85479 broad.mit.edu 37 8 66988980 66988980 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:66988980G>A ENST00000276570.5 + 4 492 c.205G>A c.(205-207)Gca>Aca p.A69T DNAJC5B_ENST00000519330.1_3'UTR NM_033105.4 NP_149096.2 Q9UF47 DNJ5B_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 5 beta 69 J. protein folding membrane heat shock protein binding|unfolded protein binding endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3) 20 Lung NSC(129;0.114)|all_lung(136;0.188) Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112) CAACGCCCACGCAATACTTAC 0.428000 5 340 0 0 1 0 0 PTHLH 5744 broad.mit.edu 37 12 28122739 28122739 + Translation_Start_Site SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:28122739T>C ENST00000395868.3 - 0 241 PTHLH_ENST00000545234.1_Intron|PTHLH_ENST00000535992.1_Intron|PTHLH_ENST00000201015.4_Intron|RP11-993B23.3_ENST00000538113.1_RNA|PTHLH_ENST00000395872.1_Intron|PTHLH_ENST00000354417.3_Intron NM_198964.1 NP_945315.1 P12272 PTHR_HUMAN parathyroid hormone-like hormone activation of adenylate cyclase activity by G-protein signaling pathway|cAMP metabolic process|cell-cell signaling|epidermis development|female pregnancy|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation cytoplasm|extracellular space|nucleus hormone activity|peptide hormone receptor binding breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1) 10 Lung SC(9;0.184) AAAATGGTTTTATATATGCAT 0.403000 30 124 0 0 1 0 0 FCER1A 2205 broad.mit.edu 37 1 159275912 159275912 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:159275912T>C ENST00000368115.1 + 5 565 c.466T>C c.(466-468)Tat>Cat p.Y156H FCER1A_ENST00000368114.1_Missense_Mutation_p.Y123H NM_002001.3 NP_001992.1 P12319 FCERA_HUMAN Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide 156 Ig-like 2. integral to plasma membrane autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 all_hematologic(112;0.0429) Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043) CAAGTACTGGTATGAGAACCA 0.498000 33 84 0 0 1 0 0 PHC2 1912 broad.mit.edu 37 1 33841032 33841032 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:33841032T>C ENST00000257118.5 - 1 162 c.109A>G c.(109-111)Agt>Ggt p.S37G PHC2_ENST00000419414.2_Missense_Mutation_p.S37G|PHC2_ENST00000431992.1_Missense_Mutation_p.S37G|PHC2_ENST00000373416.1_5'UTR NM_198040.2 NP_932157.1 Q8IXK0 PHC2_HUMAN polyhomeotic homolog 2 (Drosophila) 37 Ser-rich. multicellular organismal development PcG protein complex DNA binding|identical protein binding|zinc ion binding autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) GGgcggccacttccaccactg 0.567000 31 81 0 0 1 0 0 ADAM20 8748 broad.mit.edu 37 14 70991509 70991509 + Missense_Mutation SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:70991509G>T ENST00000256389.3 - 2 360 c.116C>A c.(115-117)gCt>gAt p.A39D RP11-486O13.4_ENST00000556646.1_lincRNA NM_003814.4 NP_003805.3 O43506 ADA20_HUMAN ADAM metallopeptidase domain 20 0 proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2) 27 KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188) all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344) TCTGTCTAGAGCAGAAGAGAA 0.542000 8 186 1.06961e-07 1.09985e-07 1 1 0 ASH1L 55870 broad.mit.edu 37 1 155313465 155313465 + Nonsense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:155313465G>A ENST00000368346.3 - 23 8704 c.8065C>T c.(8065-8067)Cga>Tga p.R2689* ASH1L_ENST00000392403.3_Nonsense_Mutation_p.R2684* Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) 2689 BAH. cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) GATAACAGTCGATAGGACTGA 0.473000 18 55 0 0 1 0 0 ATP2C2 9914 broad.mit.edu 37 16 84495409 84495409 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:84495409C>T ENST00000416219.2 + 26 2747 c.2658C>T c.(2656-2658)tgC>tgT p.C886C RP11-517C16.2_ENST00000565700.1_RNA|ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000262429.4_Silent_p.C857C O75185 AT2C2_HUMAN ATPase, Ca++ transporting, type 2C, member 2 857 ATP biosynthetic process Golgi membrane|integral to membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1) 33 CCTTGACCTGCCGCTCTCAGG 0.597000 56 137 0 0 1 0 0 MAP2 4133 broad.mit.edu 37 2 210558304 210558304 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:210558304A>G ENST00000360351.4 + 7 1916 c.1410A>G c.(1408-1410)atA>atG p.I470M MAP2_ENST00000199940.6_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.I466M NM_002374.3 NP_002365.3 P11137 MAP2_HUMAN microtubule-associated protein 2 470 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 124 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) ATGAAGAAATAGGCATAATTC 0.428000 26 65 0 0 1 0 0 SLC16A5 9121 broad.mit.edu 37 17 73096565 73096565 + Silent SNP C C T rs61750012 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:73096565C>T ENST00000450736.2 + 4 1222 c.807C>T c.(805-807)gaC>gaT p.D269D SLC16A5_ENST00000580123.1_Silent_p.D269D|SLC16A5_ENST00000329783.4_Silent_p.D269D|SLC16A5_ENST00000538213.2_Silent_p.D309D O15375 MOT6_HUMAN solute carrier family 16 (monocarboxylate transporter), member 5 269 organic anion transport integral to plasma membrane|membrane fraction secondary active monocarboxylate transmembrane transporter activity|symporter activity central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 22 all_lung(278;0.226) LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235) Pyruvic acid(DB00119) ACAGCGTGGACGAGCAGCAGG 0.612000 8 49 0 0 1 0 0 C20orf195 79025 broad.mit.edu 37 20 62187126 62187126 + Missense_Mutation SNP C C T rs148340283 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:62187126C>T ENST00000370098.3 + 2 202 c.110C>T c.(109-111)gCg>gTg p.A37V C20orf195_ENST00000370097.1_Missense_Mutation_p.A37V NM_024059.2 NP_076964.1 Q9BVV2 CT195_HUMAN chromosome 20 open reading frame 195 37 large_intestine(3)|lung(4) 7 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06) GAACCAGAGGCGTGGAAGACC 0.642000 12 58 0 0 1 0 0 ABCB11 8647 broad.mit.edu 37 2 169847374 169847374 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:169847374T>C ENST00000263817.6 - 9 969 c.845A>G c.(844-846)gAt>gGt p.D282G NM_003742.2 NP_003733.2 O95342 ABCBB_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 11 282 ABC transmembrane type-1 1. bile acid biosynthetic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1) 57 Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016) AATGACTTCATCAGCCACCAC 0.398000 29 285 0 0 1 0 0 MTMR14 64419 broad.mit.edu 37 3 9703965 9703965 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:9703965T>C ENST00000296003.4 + 3 445 c.323T>C c.(322-324)gTa>gCa p.V108A MTMR14_ENST00000353332.5_Missense_Mutation_p.V108A|MTMR14_ENST00000420925.1_Intron|MTMR14_ENST00000351233.5_Missense_Mutation_p.V108A NM_001077525.2 NP_001070993.1 Q8NCE2 MTMRE_HUMAN myotubularin related protein 14 108 perinuclear region of cytoplasm|ruffle phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2) 21 Medulloblastoma(99;0.227) GAGAGTACCGTACAGGTGAGC 0.507000 22 56 0 0 1 0 0 NOTCH1 4851 broad.mit.edu 37 9 139395187 139395187 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:139395187G>A ENST00000277541.6 - 31 5826 c.5751C>T c.(5749-5751)ggC>ggT p.G1917G NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 1917 aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) GCAGGCTGGCGCCCTGGTAGA 0.692000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 51 152 0 0 1 0 0 MB21D2 151963 broad.mit.edu 37 3 192516295 192516295 + Missense_Mutation SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:192516295G>T ENST00000392452.2 - 2 1676 c.1356C>A c.(1354-1356)gaC>gaA p.D452E NM_178496.3 NP_848591.2 Q8IYB1 M21D2_HUMAN Mab-21 domain containing 2 452 endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 31 TTGCCAAACGGTCATCAGGCT 0.552000 46 139 6.68952e-21 7.05551e-21 1 1 0 FAM24B 196792 broad.mit.edu 37 10 124608784 124608784 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:124608784G>A ENST00000368898.3 - 4 554 c.264C>T c.(262-264)tgC>tgT p.C88C FAM24B_ENST00000462859.1_5'UTR|CUZD1_ENST00000368904.1_5'UTR|CUZD1_ENST00000545804.1_Intron|FAM24B_ENST00000368896.1_Silent_p.C88C NM_152644.2 NP_689857.2 Q8N5W8 FA24B_HUMAN family with sequence similarity 24, member B 88 extracellular region endometrium(1)|kidney(1)|large_intestine(1)|lung(1) 4 all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205) Colorectal(40;0.136)|COAD - Colon adenocarcinoma(40;0.141) CATTTATGTCGCAACAGCAAG 0.448000 28 73 0 0 1 0 0 MYT1L 23040 broad.mit.edu 37 2 1893175 1893175 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:1893175G>A ENST00000399161.2 - 16 3105 c.2358C>T c.(2356-2358)tgC>tgT p.C786C MYT1L_ENST00000428368.2_Silent_p.C784C NM_015025.2 NP_055840.2 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 786 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) GGATGGGGCAGCAGCTGTCCC 0.612000 26 82 0 0 1 0 0 CENPU 79682 broad.mit.edu 37 4 185650087 185650087 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:185650087T>C ENST00000281453.5 - 3 269 c.199A>G c.(199-201)Act>Gct p.T67A MLF1IP_ENST00000541971.1_Missense_Mutation_p.T67A NM_024629.3 NP_078905.2 Q71F23 CENPU_HUMAN 67 CenH3-containing nucleosome assembly at centromere|interspecies interaction between organisms|mitotic prometaphase|regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|condensed chromosome kinetochore|cytosol|nucleoplasm endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|stomach(1) 13 all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Hepatocellular(41;0.000519)|Colorectal(36;0.00172)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.0299)|all_hematologic(60;0.0592)|Medulloblastoma(177;0.146) all cancers(43;7.83e-28)|Epithelial(43;2.56e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-11)|Colorectal(24;3.27e-06)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.16e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000252)|COAD - Colon adenocarcinoma(29;0.000512)|LUSC - Lung squamous cell carcinoma(40;0.01)|READ - Rectum adenocarcinoma(43;0.0419) GTCTCATAAGTTTCTTCATCT 0.353000 13 72 0 0 1 0 0 ACSS1 84532 broad.mit.edu 37 20 25004174 25004174 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:25004174C>T ENST00000537502.1 - 2 2017 c.486G>A c.(484-486)gtG>gtA p.V162V ACSS1_ENST00000323482.4_Silent_p.V245V|ACSS1_ENST00000542618.1_Silent_p.V124V|ACSS1_ENST00000432802.2_Silent_p.V245V Q9NUB1 ACS2L_HUMAN acyl-CoA synthetase short-chain family member 1 245 acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process mitochondrial matrix acetate-CoA ligase activity|AMP binding|ATP binding|protein binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 26 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) GGACATGCTGCACGGTGGGGC 0.577000 8 35 0 0 1 0 0 CDH26 60437 broad.mit.edu 37 20 58569540 58569540 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:58569540T>C ENST00000348616.4 + 11 1962 c.1662T>C c.(1660-1662)aaT>aaC p.N554N CDH26_ENST00000244047.5_Silent_p.N554N|CDH26_ENST00000497614.1_3'UTR NM_177980.2 NP_817089.1 Q8IXH8 CAD26_HUMAN cadherin 26 554 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 44 all_lung(29;0.00963) BRCA - Breast invasive adenocarcinoma(7;5.58e-09) TGGGGAGAAATTGGGGTGAGT 0.428000 14 51 0 0 1 0 0 MED24 9862 broad.mit.edu 37 17 38209791 38209791 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:38209791A>G ENST00000394126.1 - 1 554 c.136T>C c.(136-138)Tac>Cac p.Y46H MED24_ENST00000394127.2_Missense_Mutation_p.Y21H|MED24_ENST00000356271.3_Missense_Mutation_p.Y21H|MED24_ENST00000501516.3_Missense_Mutation_p.Y21H|MED24_ENST00000479829.1_5'UTR|MED24_ENST00000394128.2_Missense_Mutation_p.Y21H O75448 MED24_HUMAN mediator complex subunit 24 21 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 41 Colorectal(19;0.000442) GCCCATTGGTAGTCACTCCAG 0.502000 69 203 0 0 1 0 0 CTNNA1 1495 broad.mit.edu 37 5 138160345 138160345 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:138160345G>A ENST00000302763.7 + 6 805 c.715G>A c.(715-717)Gcc>Acc p.A239T CTNNA1_ENST00000355078.5_Missense_Mutation_p.A136T|CTNNA1_ENST00000518825.1_Missense_Mutation_p.A239T NM_001903.2 NP_001894.2 P35221 CTNA1_HUMAN catenin (cadherin-associated protein), alpha 1, 102kDa 239 adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation actin cytoskeleton|catenin complex|cytosol beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 52 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) AGCCTATAAGGCCAACAGGGA 0.567000 4 102 0 0 1 0 0 ATP1B2 482 broad.mit.edu 37 17 7558890 7558890 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:7558890G>A ENST00000250111.4 + 6 1062 c.655G>A c.(655-657)Gcc>Acc p.A219T NM_001678.3 NP_001669.3 P14415 AT1B2_HUMAN ATPase, Na+/K+ transporting, beta 2 polypeptide 219 ATP biosynthetic process|blood coagulation|leukocyte migration integral to membrane|plasma membrane protein binding|sodium:potassium-exchanging ATPase activity p.0?(2)|p.?(1) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|pancreas(1) 10 all_cancers(10;0.000178)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168) CATGTTCCCCGCCAACGGCAA 0.587000 29 68 0 0 1 0 0 DMD 1756 broad.mit.edu 37 X 32235180 32235180 + Splice_Site SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chrX:32235180C>T ENST00000357033.4 - 44 6497 c.6290_splice c.e44-1 p.G2097_splice DMD_ENST00000378677.2_Splice_Site_p.G2093_splice NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 2097 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) TGTCAAATCGCCTGCAGGTAA 0.333000 9 7 0 0 1 0 0 DDX10 1662 broad.mit.edu 37 11 108562670 108562670 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:108562670G>A ENST00000526794.1 + 8 1075 c.1043G>A c.(1042-1044)cGa>cAa p.R348Q DDX10_ENST00000322536.3_Missense_Mutation_p.R348Q Q13206 DDX10_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 348 Helicase C-terminal. ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2) 27 all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729) BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133) CTCCATGGTCGACAGCAGCAA 0.468000 T NUP98 AML* 37 90 0 0 1 0 0 ASH1L 55870 broad.mit.edu 37 1 155448901 155448901 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:155448901G>A ENST00000368346.3 - 3 4399 c.3760C>T c.(3760-3762)Cgc>Tgc p.R1254C ASH1L_ENST00000392403.3_Missense_Mutation_p.R1254C Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) 1254 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) TGATTCCTGCGCTTACATTTG 0.393000 55 171 0 0 1 0 0 STK4 6789 broad.mit.edu 37 20 43623734 43623734 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:43623734A>G ENST00000372806.3 + 6 624 c.529A>G c.(529-531)Acc>Gcc p.T177A STK4_ENST00000499879.2_Missense_Mutation_p.T122A|STK4_ENST00000396731.4_Missense_Mutation_p.T177A|STK4_ENST00000372801.1_Missense_Mutation_p.T177A NM_006282.2 NP_006273.1 Q13043 STK4_HUMAN serine/threonine kinase 4 177 Protein kinase. apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation cytoplasm|nucleus ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2) 20 Myeloproliferative disorder(115;0.0122) ATTTTAGGATACCATGGCCAA 0.398000 40 116 0 0 1 0 0 TEX15 56154 broad.mit.edu 37 8 30700428 30700428 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:30700428T>C ENST00000256246.2 - 1 6180 c.6106A>G c.(6106-6108)Aca>Gca p.T2036A NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 2036 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) TTTTCTTCTGTGATAAAAATA 0.313000 7 26 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 21042591 21042591 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:21042591A>G ENST00000261383.3 - 37 5214 c.5215T>C c.(5215-5217)Ttt>Ctt p.F1739L DNAH3_ENST00000415178.1_Missense_Mutation_p.F1739L NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1739 AAA 2 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) TCCACAGCAAACTCCTCCATC 0.493000 5 77 0 0 1 0 0 TEX15 56154 broad.mit.edu 37 8 30694437 30694437 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:30694437A>G ENST00000256246.2 - 3 8288 c.8214T>C c.(8212-8214)ccT>ccC p.P2738P NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 2738 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) AATTAGAAGCAGGTATTTGAG 0.398000 29 135 0 0 1 0 0 RAD51D 5892 broad.mit.edu 37 17 33430517 33430517 + Missense_Mutation SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:33430517A>T ENST00000345365.6 - 7 878 c.623T>A c.(622-624)gTc>gAc p.V208D RAD51D_ENST00000460118.2_Missense_Mutation_p.V89D|RAD51D_ENST00000360276.3_Missense_Mutation_p.V163D|RAD51D_ENST00000394589.4_Missense_Mutation_p.V208D|RAD51D_ENST00000590380.1_5'UTR|RAD51D_ENST00000590016.1_Missense_Mutation_p.V228D|RAD51L3-RFFL_ENST00000593039.1_Missense_Mutation_p.V49D|RAD51D_ENST00000335858.7_Missense_Mutation_p.V96D NM_002878.3 NP_002869.3 O75771 RA51D_HUMAN RAD51 paralog D 208 DNA repair|reciprocal meiotic recombination nucleus ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 CACCGCAGTGACCGAGTCCAC 0.567000 Direct reversal of damage 15 59 0 0 1 0 0 DDX21 9188 broad.mit.edu 37 10 70741317 70741317 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:70741317G>A ENST00000354185.4 + 14 2160 c.2062G>A c.(2062-2064)Gca>Aca p.A688T NM_001256910.1|NM_004728.3 NP_001243839.1|NP_004719.2 Q9NR30 DDX21_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 21 688 nucleolus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 20 TGTACCTACCGCATCAGTAAC 0.318000 14 51 0 0 1 0 0 CACNA2D4 93589 broad.mit.edu 37 12 2019090 2019090 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:2019090T>C ENST00000382722.5 - 4 830 c.468A>G c.(466-468)gaA>gaG p.E156E CACNA2D4_ENST00000585708.1_Silent_p.E92E|CACNA2D4_ENST00000588077.1_Silent_p.E92E|CACNA2D4_ENST00000585732.1_Silent_p.E156E|CACNA2D4_ENST00000586184.1_Silent_p.E156E|CACNA2D4_ENST00000587995.1_Silent_p.E156E NM_172364.4 NP_758952.4 Q7Z3S7 CA2D4_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 4 156 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 39 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451) ATTCATTGAATTCGTGGTTCA 0.587000 5 37 0 0 1 0 0 TNFAIP3 7128 broad.mit.edu 37 6 138196092 138196092 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:138196092C>T ENST00000237289.4 + 3 472 c.406C>T c.(406-408)Cgc>Tgc p.R136C NM_001270507.1|NM_001270508.1|NM_006290.3 NP_001257436.1|NP_001257437.1|NP_006281.1 P21580 TNAP3_HUMAN tumor necrosis factor, alpha-induced protein 3 136 OTU.|TRAF-binding. anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide centrosome|cytosol|nucleus caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding p.0?(25)|p.R136fs*3(2)|p.R136fs*4(1)|p.W113_F140del(1) breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 225 Breast(32;0.135)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468) AACAGACACACGCAACTTTAA 0.488000 """D, N, F""" """marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma""" 28 106 0 0 1 0 0 TMPRSS15 5651 broad.mit.edu 37 21 19666640 19666640 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr21:19666640G>A ENST00000284885.3 - 21 2466 c.2433C>T c.(2431-2433)ggC>ggT p.G811G NM_002772.2 NP_002763.2 P98073 ENTK_HUMAN transmembrane protease, serine 15 811 Peptidase S1. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 85 CGAGAGATGCGCCGCAGAGCA 0.567000 33 113 0 0 1 0 0 GBA2 57704 broad.mit.edu 37 9 35737315 35737315 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:35737315G>A ENST00000378103.3 - 17 3158 c.2635C>T c.(2635-2637)Cgg>Tgg p.R879W GBA2_ENST00000378088.1_3'UTR|GBA2_ENST00000378094.4_3'UTR|GBA2_ENST00000545786.1_Missense_Mutation_p.R885W NM_020944.2 NP_065995.1 Q9HCG7 GBA2_HUMAN glucosidase, beta (bile acid) 2 879 bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum beta-glucosidase activity|glucosylceramidase activity NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3) 21 all_epithelial(49;0.167) Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) CTCAGTGGCCGCATGTAGGCC 0.602000 19 73 0 0 1 0 0 PNMA3 29944 broad.mit.edu 37 X 152226134 152226134 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chrX:152226134G>A ENST00000447306.1 + 2 1058 c.722G>A c.(721-723)gGa>gAa p.G241E PNMA3_ENST00000370265.4_Missense_Mutation_p.G241E|PNMA3_ENST00000370264.4_Missense_Mutation_p.G241E NM_013364.4 NP_037496.3 Q9UL41 PNMA3_HUMAN paraneoplastic Ma antigen 3 241 apoptosis nucleolus nucleic acid binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2) 16 Acute lymphoblastic leukemia(192;6.56e-05) caggtgttcggacctgtggag 0.552000 80 87 0 0 1 0 0 ZNF440 126070 broad.mit.edu 37 19 11942804 11942804 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:11942804T>C ENST00000304060.5 + 4 977 c.813T>C c.(811-813)taT>taC p.Y271Y NM_152357.2 NP_689570.2 Q8IYI8 ZN440_HUMAN zinc finger protein 440 271 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 CCAGATCCTATCGTAGACATG 0.403000 4 81 0 0 1 0 0 CUL9 23113 broad.mit.edu 37 6 43154058 43154058 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:43154058T>C ENST00000252050.4 + 4 1200 c.1116T>C c.(1114-1116)cgT>cgC p.R372R CUL9_ENST00000372647.2_Silent_p.R372R|CUL9_ENST00000354495.3_Silent_p.R372R NM_015089.2 NP_055904.1 Q8IWT3 CUL9_HUMAN cullin 9 372 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4) 92 TCTCCAGCCGTAGTGGCTATG 0.572000 35 112 0 0 1 0 0 PCDHA10 56139 broad.mit.edu 37 5 140236622 140236622 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:140236622T>C ENST00000307360.5 + 1 989 c.989T>C c.(988-990)gTt>gCt p.V330A PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.V330A|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron NM_018901.2|NM_031859.1 NP_061724.1|NP_114065.1 NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 79 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCACCTATGGTTGGTCACTGC 0.408000 25 117 0 0 1 0 0 FTO 79068 broad.mit.edu 37 16 53907751 53907751 + Missense_Mutation SNP T T A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:53907751T>A ENST00000471389.1 + 5 1171 c.949T>A c.(949-951)Ttt>Att p.F317I FTO_ENST00000394647.3_Missense_Mutation_p.F21I NM_001080432.2 NP_001073901.1 Q9C0B1 FTO_HUMAN fat mass and obesity associated 317 Alpha-ketoglutarate binding.|Fe2OG dioxygenase domain. DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair nucleus DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 ACAACCTCGGTTTAGTTCCAC 0.403000 6 89 0 0 1 0 0 CHD9 80205 broad.mit.edu 37 16 53331006 53331006 + Missense_Mutation SNP G G C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:53331006G>C ENST00000566029.1 + 30 5858 c.5649G>C c.(5647-5649)ttG>ttC p.L1883F CHD9_ENST00000564845.1_Missense_Mutation_p.L1883F|CHD9_ENST00000447540.1_Missense_Mutation_p.L1883F|CHD9_ENST00000398510.3_Missense_Mutation_p.L1883F Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 1883 cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 78 all_cancers(37;0.0212) ATGATAGTTTGGAAAAATATT 0.378000 32 113 0 0 1 0 0 OR52R1 119695 broad.mit.edu 37 11 4825605 4825605 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:4825605C>T ENST00000380382.1 - 1 242 c.243G>A c.(241-243)gtG>gtA p.V81V OR52R1_ENST00000356069.2_Silent_p.V2V|MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron Q8NGF1 O52R1_HUMAN olfactory receptor, family 52, subfamily R, member 1 2 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3) 29 Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) CTGAAGCCAGCACCATGGACT 0.458000 12 74 0 0 1 0 0 DLC1 10395 broad.mit.edu 37 8 12957371 12957371 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:12957371G>A ENST00000276297.4 - 9 2884 c.2475C>T c.(2473-2475)ggC>ggT p.G825G DLC1_ENST00000512044.2_Silent_p.G422G|DLC1_ENST00000520226.1_Silent_p.G314G|DLC1_ENST00000358919.2_Silent_p.G388G NM_182643.2 NP_872584.2 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 825 actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 GGGAGAAACTGCCATTGGTGA 0.557000 13 243 0 0 1 0 0 ALAS2 212 broad.mit.edu 37 X 55041391 55041391 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chrX:55041391A>G ENST00000330807.5 - 9 1363 c.1226T>C c.(1225-1227)aTg>aCg p.M409T ALAS2_ENST00000396198.3_Missense_Mutation_p.M396T|ALAS2_ENST00000335854.4_Missense_Mutation_p.M372T|ALAS2_ENST00000498636.1_5'UTR NM_000032.4 NP_000023.2 P22557 HEM0_HUMAN aminolevulinate, delta-, synthase 2 409 cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia mitochondrial inner membrane|mitochondrial matrix 5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1) 17 Glycine(DB00145) GGAGCGCACCATGTCCACCAA 0.542000 10 14 0 0 1 0 0 PLEKHM2 23207 broad.mit.edu 37 1 16053852 16053852 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:16053852C>T ENST00000375799.3 + 9 1512 c.1285C>T c.(1285-1287)Cgt>Tgt p.R429C RP11-288I21.1_ENST00000453804.1_RNA|PLEKHM2_ENST00000375793.2_Missense_Mutation_p.R409C NM_015164.2 NP_055979.2 Q8IWE5 PKHM2_HUMAN pleckstrin homology domain containing, family M (with RUN domain) member 2 429 Golgi organization cytoplasm kinesin binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 12 Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657) CTGGTGCTCCCGTGCTGAGCC 0.652000 6 13 0 0 1 0 0 ENTPD7 57089 broad.mit.edu 37 10 101455822 101455822 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:101455822A>G ENST00000370489.4 + 9 1131 c.953A>G c.(952-954)aAc>aGc p.N318S NM_020354.3 NP_065087.1 Q9NQZ7 ENTP7_HUMAN ectonucleoside triphosphate diphosphohydrolase 7 318 cytoplasmic vesicle membrane|integral to membrane hydrolase activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1) 18 Colorectal(252;0.234) Epithelial(162;4.72e-10)|all cancers(201;3.75e-08) TTCGGAGGCAACTTTGCCCGG 0.453000 7 101 0 0 1 0 0 PBXIP1 57326 broad.mit.edu 37 1 154924305 154924305 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:154924305A>G ENST00000368463.3 - 3 215 c.144T>C c.(142-144)gaT>gaC p.D48D PBXIP1_ENST00000368460.3_Silent_p.D48D|PBXIP1_ENST00000539880.1_Intron|PBXIP1_ENST00000368465.1_Silent_p.D19D|PBXIP1_ENST00000542459.1_Intron|PBXIP1_ENST00000498553.1_Intron NM_020524.2 NP_065385.2 Q96AQ6 PBIP1_HUMAN pre-B-cell leukemia homeobox interacting protein 1 48 cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent cytosol|microtubule|nucleus protein binding|transcription corepressor activity breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1) 24 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) ATTCTTTCCCATCTGTCTTGG 0.562000 82 210 0 0 1 0 0 CNBD2 140894 broad.mit.edu 37 20 34611575 34611575 + Missense_Mutation SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:34611575A>T ENST00000373973.3 + 11 1494 c.1321A>T c.(1321-1323)Atc>Ttc p.I441F CNBD2_ENST00000538900.1_Intron|CNBD2_ENST00000349339.1_Missense_Mutation_p.I437F cyclic nucleotide binding domain containing 2 ACGACCCTTGATCCTGATGAG 0.458000 13 108 0 0 1 0 0 ATP2A2 488 broad.mit.edu 37 12 110783052 110783052 + Splice_Site SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:110783052A>G ENST00000395494.2 + 17 3089 c.e17-1 ATP2A2_ENST00000308664.6_Splice_Site|ATP2A2_ENST00000539276.2_Splice_Site P16615 AT2A2_HUMAN ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 38 ATTTTCTTGCAGAGTCATTTC 0.483000 51 200 0 0 1 0 0 KIAA1199 57214 broad.mit.edu 37 15 81201475 81201475 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:81201475C>T ENST00000394685.3 + 14 2044 c.1625C>T c.(1624-1626)aCg>aTg p.T542M RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000220244.3_Missense_Mutation_p.T542M|RP11-351M8.1_ENST00000560560.1_Intron|KIAA1199_ENST00000356249.5_Missense_Mutation_p.T542M Q8WUJ3 K1199_HUMAN KIAA1199 542 breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 TTGGAGGGCACGGAGCTGAAG 0.552000 10 46 0 0 1 0 0 SIVA1 10572 broad.mit.edu 37 14 105222045 105222045 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:105222045A>G ENST00000329967.6 + 2 299 c.197A>G c.(196-198)cAc>cGc p.H66R SIVA1_ENST00000347067.5_Intron NM_006427.3 NP_006418.2 O15304 SIVA_HUMAN SIVA1, apoptosis-inducing factor 66 activation of caspase activity by cytochrome c|activation-induced cell death of T cells|apoptosis|induction of apoptosis|interspecies interaction between organisms|negative regulation of anti-apoptosis|negative regulation of NF-kappaB transcription factor activity cytoplasm|mitochondrion|nucleoplasm|nucleus caspase activator activity|CD27 receptor binding|metal ion binding|viral receptor activity|zinc ion binding large_intestine(1)|lung(1)|prostate(1) 3 all_cancers(154;0.14)|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;0.173) GCCGTCGTTCACCTGCCAGAG 0.627000 27 70 0 0 1 0 0 DUOXA1 90527 broad.mit.edu 37 15 45412817 45412817 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:45412817G>A ENST00000558996.1 - 4 446 c.392C>T c.(391-393)gCg>gTg p.A131V DUOXA1_ENST00000559014.1_Missense_Mutation_p.A176V|DUOXA1_ENST00000560572.1_Missense_Mutation_p.A176V|DUOXA1_ENST00000558422.1_Missense_Mutation_p.A131V|DUOXA1_ENST00000267803.4_Missense_Mutation_p.A176V|DUOXA1_ENST00000430224.2_Missense_Mutation_p.A131V NM_001276267.1|NM_001276268.1 NP_001263196.1|NP_001263197.1 Q1HG43 DOXA1_HUMAN dual oxidase maturation factor 1 176 protein transport endoplasmic reticulum membrane|integral to membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 16 all_cancers(109;6.02e-08)|all_epithelial(112;1.83e-06)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;3.82e-18)|GBM - Glioblastoma multiforme(94;4.39e-07)|COAD - Colon adenocarcinoma(120;0.0676)|Colorectal(133;0.0686) GTAGTGTCCCGCCAGGCGGTA 0.577000 59 98 0 0 1 0 0 LRFN5 145581 broad.mit.edu 37 14 42357119 42357119 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:42357119G>A ENST00000554171.1 + 5 3723 c.1291G>A c.(1291-1293)Gca>Aca p.A431T LRFN5_ENST00000554120.1_Missense_Mutation_p.A431T|LRFN5_ENST00000298119.4_Missense_Mutation_p.A431T Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III domain containing 5 431 Fibronectin type-III. integral to membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2) 120 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) ATCATCAACGGCACTACTTAA 0.353000 HNSCC(30;0.082) 18 41 0 0 1 0 0 WASL 8976 broad.mit.edu 37 7 123346845 123346845 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:123346845A>G ENST00000223023.4 - 3 620 c.288T>C c.(286-288)aaT>aaC p.N96N NM_003941.2 NP_003932.3 O00401 WASL_HUMAN Wiskott-Aldrich syndrome-like 96 WH1. actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent actin cytoskeleton|cytosol|nucleolus|plasma membrane actin binding|small GTPase regulator activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 ATACAAAGTTATTGTATAGCT 0.289000 14 41 0 0 1 0 0 ANKMY2 57037 broad.mit.edu 37 7 16640449 16640449 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:16640449T>C ENST00000306999.2 - 10 1506 c.1263A>G c.(1261-1263)gaA>gaG p.E421E NM_020319.2 NP_064715.1 Q8IV38 ANKY2_HUMAN ankyrin repeat and MYND domain containing 2 421 cilium zinc ion binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1) 23 Lung NSC(10;0.103)|all_lung(11;0.204) UCEC - Uterine corpus endometrioid carcinoma (126;0.195) CAGCTTCGCTTTCAAGAGATT 0.488000 25 54 0 0 1 0 0 BTBD16 118663 broad.mit.edu 37 10 124094399 124094399 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:124094399A>G ENST00000368994.2 + 14 1422 c.1171A>G c.(1171-1173)Aat>Gat p.N391D BTBD16_ENST00000260723.4_Missense_Mutation_p.N390D|BTBD16_ENST00000495370.2_3'UTR Q32M84 BTBDG_HUMAN BTB (POZ) domain containing 16 390 breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1) 15 all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238) AATTTAGGAGAATACAACTTA 0.383000 4 87 0 0 1 0 0 NEUROG3 50674 broad.mit.edu 37 10 71332448 71332448 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:71332448T>C ENST00000242462.4 - 2 381 c.352A>G c.(352-354)Aag>Gag p.K118E NM_020999.3 NP_066279.2 Q9Y4Z2 NGN3_HUMAN neurogenin 3 118 Helix-loop-helix motif. central nervous system development|endocrine pancreas development|peripheral nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity nucleus transcription coactivator activity endometrium(4)|large_intestine(2)|lung(6)|prostate(1) 13 TTGGTGAGCTTCGCGTCGTCT 0.627000 19 63 0 0 1 0 0 MKRN1 23608 broad.mit.edu 37 7 140171758 140171758 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:140171758T>C ENST00000255977.2 - 2 463 c.239A>G c.(238-240)gAc>gGc p.D80G MKRN1_ENST00000437223.2_5'UTR|MKRN1_ENST00000443720.2_Missense_Mutation_p.D80G|MKRN1_ENST00000480552.1_Missense_Mutation_p.D16G|MKRN1_ENST00000481705.1_5'UTR|MKRN1_ENST00000474576.1_Missense_Mutation_p.D16G NM_013446.3 NP_038474.2 Q9UHC7 MKRN1_HUMAN makorin ring finger protein 1 80 ligase activity|nucleic acid binding|protein binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 16 Melanoma(164;0.00956) GTCAGAGAGGTCATGCGAGTA 0.408000 23 80 0 0 1 0 0 KIAA1217 56243 broad.mit.edu 37 10 24722076 24722076 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:24722076A>G ENST00000376454.3 + 4 736 c.706A>G c.(706-708)Atc>Gtc p.I236V KIAA1217_ENST00000458595.1_Missense_Mutation_p.I236V|KIAA1217_ENST00000376452.3_Missense_Mutation_p.I236V|KIAA1217_ENST00000430453.2_Missense_Mutation_p.I157V|KIAA1217_ENST00000376462.1_Missense_Mutation_p.I156V NM_019590.3 NP_062536.2 Q5T5P2 SKT_HUMAN KIAA1217 236 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 CGCCATTTACATCAAAGATGA 0.393000 24 53 0 0 1 0 0 POTEA 340441 broad.mit.edu 37 8 43157155 43157155 + RNA SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:43157155T>C ENST00000522175.2 + 0 697 Q6S8J7 POTEA_HUMAN POTE ankyrin domain family, member A breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 GATCAGCAAGTATAGTTAGTC 0.328000 6 88 0 0 1 0 0 RBM46 166863 broad.mit.edu 37 4 155720164 155720164 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:155720164G>A ENST00000510397.1 + 4 1029 c.850G>A c.(850-852)Gca>Aca p.A284T RBM46_ENST00000281722.3_Missense_Mutation_p.A284T|RBM46_ENST00000514866.1_Missense_Mutation_p.A284T NM_001277173.1 NP_001264102.1 Q8TBY0 RBM46_HUMAN RNA binding motif protein 46 284 RRM 3. nucleotide binding|RNA binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2) 26 all_hematologic(180;0.24) Renal(120;0.0854) CCGAGAAGATGCAGTGGCTGC 0.363000 12 55 0 0 1 0 0 TMEM259 91304 broad.mit.edu 37 19 1012124 1012124 + Missense_Mutation SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:1012124C>A ENST00000356663.3 - 5 903 c.782G>T c.(781-783)gGc>gTc p.G261V TMEM259_ENST00000333175.5_Missense_Mutation_p.G261V NM_001033026.1 NP_001028198.1 transmembrane protein 259 GTCATCGTAGCCCAGGAACTC 0.692000 6 18 0.0215528 0.0216729 1 1 0 IRF2BPL 64207 broad.mit.edu 37 14 77494128 77494128 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:77494128G>A ENST00000238647.3 - 1 906 c.8C>T c.(7-9)gCg>gTg p.A3V NM_024496.3 NP_078772.1 Q9H1B7 I2BPL_HUMAN interferon regulatory factor 2 binding protein-like 3 nucleus endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 11 CACCTGCGCCGCCGACATGAT 0.697000 15 22 0 0 1 0 0 PCYT2 5833 broad.mit.edu 37 17 79862964 79862964 + Missense_Mutation SNP C C T rs142625466 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:79862964C>T ENST00000538936.2 - 12 1144 c.1036G>A c.(1036-1038)Gtc>Atc p.V346I PCYT2_ENST00000571105.1_Missense_Mutation_p.V324I|PCYT2_ENST00000570388.1_Missense_Mutation_p.V268I|PCYT2_ENST00000570391.1_Missense_Mutation_p.V314I|PCYT2_ENST00000331285.3_Missense_Mutation_p.V268I|PCYT2_ENST00000538721.2_Missense_Mutation_p.V364I NM_001256435.1|NM_002861.3 NP_001243364.1|NP_002852.1 Q99447 PCY2_HUMAN phosphate cytidylyltransferase 2, ethanolamine 346 Catalytic 2 (Potential). phospholipid biosynthetic process ethanolamine-phosphate cytidylyltransferase activity breast(2)|endometrium(1)|lung(4)|ovary(1) 8 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) ATCCGCTGGACGATGAGGTCT 0.632000 9 21 0 0 1 0 0 LENG8 114823 broad.mit.edu 37 19 54965653 54965653 + Silent SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:54965653C>A ENST00000326764.5 + 6 950 c.471C>A c.(469-471)ccC>ccA p.P157P LENG8_ENST00000376514.2_Intron NM_052925.2 NP_443157.1 Q96PV6 LENG8_HUMAN leukocyte receptor cluster (LRC) member 8 120 protein binding breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 30 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.139) ACCAGGCTCCCCCTCAGCAGC 0.667000 22 53 2.79863e-10 2.90221e-10 1 1 0 KIFC1 3833 broad.mit.edu 37 6 33371120 33371120 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:33371120C>T ENST00000428849.2 + 4 730 c.280C>T c.(280-282)Cgg>Tgg p.R94W KIFC1_ENST00000486695.1_3'UTR NM_002263.3 NP_002254.2 Q9BW19 KIFC1_HUMAN kinesin family member C1 94 blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle ATP binding|microtubule motor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1) 13 GACAGGACCCCGGTGTTCCAC 0.493000 37 107 0 0 1 0 0 FERD3L 222894 broad.mit.edu 37 7 19184834 19184834 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:19184834G>A ENST00000275461.3 - 1 210 c.152C>T c.(151-153)cCc>cTc p.P51L AC003986.5_ENST00000452700.1_RNA NM_152898.2 NP_690862.1 Q96RJ6 FER3L_HUMAN Fer3-like bHLH transcription factor 51 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 35 CATCCTCCTGGGTCTTCCCTC 0.662000 16 46 0 0 1 0 0 ALG6 29929 broad.mit.edu 37 1 63836712 63836712 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:63836712T>C ENST00000371108.4 + 2 369 c.64T>C c.(64-66)Tct>Cct p.S22P ALG6_ENST00000263440.4_Missense_Mutation_p.S22P NM_013339.3 NP_037471.2 Q9Y672 ALG6_HUMAN ALG6, alpha-1,3-glucosyltransferase 22 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 ATGGACAGTGTCTCTTAATTC 0.333000 36 87 0 0 1 0 0 SCAP 22937 broad.mit.edu 37 3 47456400 47456400 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:47456400G>A ENST00000265565.5 - 20 3635 c.3223C>T c.(3223-3225)Ccc>Tcc p.P1075S SCAP_ENST00000545718.1_Missense_Mutation_p.P682S|SCAP_ENST00000441517.2_Missense_Mutation_p.P819S NM_012235.2 NP_036367.2 Q12770 SCAP_HUMAN SREBF chaperone 1075 Interaction with SREBF2 (By similarity). cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane unfolded protein binding endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 26 BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679) TGTGCACAGGGCACTGTGTGG 0.602000 28 84 0 0 1 0 0 CDCA2 157313 broad.mit.edu 37 8 25325857 25325857 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:25325857A>G ENST00000330560.3 + 6 1140 c.663A>G c.(661-663)gtA>gtG p.V221V CDCA2_ENST00000380665.3_Silent_p.V206V NM_152562.2 NP_689775.2 Q69YH5 CDCA2_HUMAN cell division cycle associated 2 221 cell division|mitosis cytoplasm|nucleus breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3) 35 all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191) UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443) AAGGAAAAGTAATTGGTCTCC 0.423000 41 91 0 0 1 0 0 C5orf66 100996485 broad.mit.edu 37 5 134679129 134679129 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:134679129T>C ENST00000432382.3 + 6 1233 c.411T>C c.(409-411)agT>agC p.S137S CTC-203F4.1_ENST00000555438.1_Intron|H2AFY_ENST00000511689.1_Intron|H2AFY_ENST00000423969.2_Intron|H2AFY_ENST00000512507.1_Intron|H2AFY_ENST00000510038.1_Intron|H2AFY_ENST00000304332.4_Intron|H2AFY_ENST00000312469.4_Intron NM_001277348.1 NP_001264277.1 CAGCAGCTAGTGGTGCGGGGA 0.532000 8 169 0 0 1 0 0 ZBTB47 92999 broad.mit.edu 37 3 42703044 42703044 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:42703044G>A ENST00000457842.3 + 3 1822 c.413G>A c.(412-414)gGc>gAc p.G138D ZBTB47_ENST00000232974.6_Missense_Mutation_p.G514D|ZBTB47_ENST00000505904.1_Missense_Mutation_p.G60D NM_145166.3 NP_660149.2 Q9UFB7 ZBT47_HUMAN zinc finger and BTB domain containing 47 138 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1) 13 KIRC - Kidney renal clear cell carcinoma(284;0.216) ATTGTGCACGGCTACGCAGAG 0.517000 17 58 0 0 1 0 0 B4GALNT2 124872 broad.mit.edu 37 17 47243541 47243541 + Silent SNP C C T rs142560351 by1000genomes TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:47243541C>T ENST00000300404.2 + 9 1259 c.1200C>T c.(1198-1200)gaC>gaT p.D400D B4GALNT2_ENST00000393354.2_Silent_p.D340D|B4GALNT2_ENST00000504681.1_Silent_p.D314D NM_153446.2 NP_703147.2 Q8NHY0 B4GN2_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 2 400 lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process integral to Golgi membrane acetylgalactosaminyltransferase activity endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 24 all cancers(6;0.000316) TCTGGGTGGACGATGATTTTC 0.498000 21 60 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179604505 179604505 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:179604505T>C ENST00000589042.1 - 48 13679 c.13455A>G c.(13453-13455)atA>atG p.I4485M TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I4122M|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.I4168M|TTN_ENST00000359218.5_Missense_Mutation_p.I4247M|TTN_ENST00000342175.6_Missense_Mutation_p.I4314M|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 4168 Ig-like 25. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity 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) TTAGGATGTCTATTTCCTCAT 0.388000 62 218 0 0 1 0 0 DLG1 1739 broad.mit.edu 37 3 196792280 196792280 + Missense_Mutation SNP C C G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:196792280C>G ENST00000346964.2 - 23 2528 c.2339G>C c.(2338-2340)aGa>aCa p.R780T DLG1_ENST00000314062.3_Missense_Mutation_p.R707T|DLG1_ENST00000448528.2_Missense_Mutation_p.R758T|DLG1_ENST00000452595.1_Missense_Mutation_p.R642T|DLG1_ENST00000450955.1_Missense_Mutation_p.R747T|DLG1_ENST00000419354.1_Missense_Mutation_p.R758T|DLG1_ENST00000422288.1_Missense_Mutation_p.R707T|DLG1_ENST00000443183.1_Missense_Mutation_p.R654T|DLG1_ENST00000392382.2_Missense_Mutation_p.R725T|DLG1_ENST00000357674.4_Missense_Mutation_p.R747T NM_004087.2 NP_004078.2 Q12959 DLG1_HUMAN discs, large homolog 1 (Drosophila) 758 Guanylate kinase-like. actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 26 all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589) Lung NSC(153;0.133) Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.0148) ATGATAATCTCTTCCATCTAC 0.313000 29 60 0 0 1 0 0 AATF 26574 broad.mit.edu 37 17 35388942 35388942 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:35388942A>G ENST00000225402.5 + 11 1830 c.1579A>G c.(1579-1581)Atg>Gtg p.M527V NM_012138.3 NP_036270.1 Q9NY61 AATF_HUMAN apoptosis antagonizing transcription factor 527 anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus centrosome|focal adhesion|nucleolus leucine zipper domain binding|sequence-specific DNA binding transcription factor activity cervix(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2) 18 Breast(25;0.00607) ACTGAGTTTCATGGCACCTAT 0.398000 36 111 0 0 1 0 0 CADM3 57863 broad.mit.edu 37 1 159162460 159162460 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:159162460T>C ENST00000368125.4 + 3 479 c.322T>C c.(322-324)Tac>Cac p.Y108H CADM3_ENST00000368124.4_Missense_Mutation_p.Y142H NM_001127173.1 NP_001120645.1 Q8N126 CADM3_HUMAN cell adhesion molecule 3 108 Ig-like V-type. adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane protein homodimerization activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 all_hematologic(112;0.0429) CGAGGGCGAGTACACCTGCTC 0.557000 37 104 0 0 1 0 0 SECISBP2L 9728 broad.mit.edu 37 15 49327791 49327791 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:49327791A>G ENST00000559471.1 - 3 531 c.268T>C c.(268-270)Tac>Cac p.Y90H SECISBP2L_ENST00000261847.3_Missense_Mutation_p.Y90H NM_001193489.1 NP_001180418.1 Q93073 SBP2L_HUMAN SECIS binding protein 2-like 90 breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1) 46 TAGGCAAAGTATGGTCCAGTA 0.403000 37 117 0 0 1 0 0 RPS23 6228 broad.mit.edu 37 5 81571973 81571973 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:81571973A>G ENST00000296674.8 - 4 640 c.387T>C c.(385-387)tcT>tcC p.S129S RPS23_ENST00000512493.1_Intron|RPS23_ENST00000510019.1_Intron|RPS23_ENST00000507980.1_3'UTR|RPS23_ENST00000503605.1_Intron|RPS23_ENST00000510210.1_Intron|ATG10_ENST00000514253.2_3'UTR NM_001025.4 NP_001016.1 P62266 RS23_HUMAN ribosomal protein S23 129 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit protein binding|structural constituent of ribosome prostate(1) 1 Lung NSC(167;0.0025)|all_lung(232;0.00278)|Ovarian(174;0.0336) OV - Ovarian serous cystadenocarcinoma(54;1.94e-42)|Epithelial(54;8.38e-37)|all cancers(79;1.42e-31) GGGCCAAAAGAGAAACATTGG 0.368000 15 49 0 0 1 0 0 DNMT1 1786 broad.mit.edu 37 19 10247831 10247831 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:10247831A>G ENST00000340748.4 - 36 4606 c.4371T>C c.(4369-4371)taT>taC p.Y1457Y DNMT1_ENST00000359526.4_Silent_p.Y1473Y|DNMT1_ENST00000540357.1_Silent_p.Y1457Y P26358 DNMT1_HUMAN DNA (cytosine-5-)-methyltransferase 1 1457 Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity). chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035) CATGGTGGGTATACCGCAGCT 0.652000 4 12 0 0 1 0 0 PLXNB1 5364 broad.mit.edu 37 3 48456740 48456740 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:48456740A>G ENST00000358536.4 - 20 4080 c.3811T>C c.(3811-3813)Tgc>Cgc p.C1271R PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000465117.1_5'UTR|PLXNB1_ENST00000358459.4_Missense_Mutation_p.C1088R|PLXNB1_ENST00000296440.6_Missense_Mutation_p.C1271R|PLXNB1_ENST00000456774.1_Missense_Mutation_p.C1088R NM_002673.4 NP_002664.2 O43157 PLXB1_HUMAN plexin B1 1271 IPT/TIG 3. axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) CCACGGACGCATATCTCACGT 0.582000 9 37 0 0 1 0 0 ABHD8 79575 broad.mit.edu 37 19 17412082 17412082 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:17412082G>A ENST00000247706.3 - 2 583 c.344C>T c.(343-345)gCc>gTc p.A115V MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000600434.1_Intron NM_024527.4 NP_078803.4 Q96I13 ABHD8_HUMAN abhydrolase domain containing 8 115 hydrolase activity central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1) 9 CTCCAGGGCGGCCGGCGGCTC 0.726000 12 47 0 0 1 0 0 PAPPA 5069 broad.mit.edu 37 9 118949746 118949746 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:118949746T>C ENST00000328252.3 + 2 1098 c.729T>C c.(727-729)agT>agC p.S243S NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 243 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 TAGGGGGCAGTGCCCTGAATC 0.562000 4 149 0 0 1 0 0 ERBB2 2064 broad.mit.edu 37 17 37883982 37883982 + Silent SNP G G A rs144501267 byFrequency TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:37883982G>A ENST00000406381.2 + 29 3873 c.3363G>A c.(3361-3363)tcG>tcA p.S1121S ERBB2_ENST00000540147.1_Silent_p.S1121S|ERBB2_ENST00000541774.1_Silent_p.S1136S|ERBB2_ENST00000445658.2_Silent_p.S875S|ERBB2_ENST00000584601.1_Silent_p.S1121S|ERBB2_ENST00000584450.1_3'UTR|ERBB2_ENST00000269571.5_Silent_p.S1151S NM_001005862.1 NP_001005862.1 P04626 ERBB2_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 1151 cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4) 247 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) AGCCCCCTTCGCCCCGAGAGG 0.602000 1 """A, Mis, O""" """breast, ovarian, other tumour types, NSCLC, gastric""" TCGA GBM(5;<1E-08) 21 51 0 0 1 0 0 ELMO2 63916 broad.mit.edu 37 20 45022181 45022181 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:45022181T>C ENST00000290246.6 - 5 373 c.179A>G c.(178-180)tAc>tGc p.Y60C ELMO2_ENST00000372176.1_5'UTR|ELMO2_ENST00000488853.1_5'UTR|ELMO2_ENST00000352077.2_Missense_Mutation_p.Y60C|ELMO2_ENST00000396391.1_Missense_Mutation_p.Y60C|ELMO2_ENST00000445496.2_5'UTR|ELMO2_ENST00000439931.2_Missense_Mutation_p.Y60C NM_133171.3 NP_573403.1 Q96JJ3 ELMO2_HUMAN engulfment and cell motility 2 60 apoptosis|cell chemotaxis|phagocytosis cytoskeleton|cytosol|membrane lyase activity|receptor tyrosine kinase binding|SH3 domain binding breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1) 16 Myeloproliferative disorder(115;0.0122) TTCGGTGATGTACAGCTGAGG 0.468000 24 371 0 0 1 0 0 VWF 7450 broad.mit.edu 37 12 6167200 6167200 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:6167200A>G ENST00000261405.5 - 14 1798 c.1544T>C c.(1543-1545)gTc>gCc p.V515A NM_000552.3 NP_000543.2 P04275 VWF_HUMAN von Willebrand factor 515 VWFD 2. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) CCCGGCATAGACGGGGGACAG 0.577000 17 103 0 0 1 0 0 KDM5B 10765 broad.mit.edu 37 1 202722136 202722136 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:202722136A>G ENST00000367265.3 - 12 2762 c.1598T>C c.(1597-1599)gTa>gCa p.V533A KDM5B_ENST00000367264.2_Missense_Mutation_p.V569A NM_006618.3 NP_006609.3 Q9UGL1 KDM5B_HUMAN lysine (K)-specific demethylase 5B 533 JmjC. negative regulation of transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(2)|ovary(2)|skin(1)|urinary_tract(1) 6 TTTCTTCATTACATTTTCTAG 0.448000 29 58 0 0 1 0 0 DSCC1 79075 broad.mit.edu 37 8 120855895 120855895 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:120855895C>T ENST00000313655.4 - 5 884 c.670G>A c.(670-672)Gtt>Att p.V224I NM_024094.2 NP_076999.2 Q9BVC3 DCC1_HUMAN DNA replication and sister chromatid cohesion 1 224 DNA replication|maintenance of mitotic sister chromatid cohesion|post-translational protein acetylation|regulation of DNA replication chromatin|chromosome, centromeric region|nucleoplasm DNA binding|protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|pancreas(1) 9 Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) TTCAAAGGAACTTTACCAAAA 0.378000 5 278 0 0 1 0 0 SLC39A3 29985 broad.mit.edu 37 19 2732884 2732884 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:2732884G>A ENST00000269740.4 - 3 1139 c.810C>T c.(808-810)ggC>ggT p.G270G SLC39A3_ENST00000545664.1_Silent_p.G270G|AC006538.4_ENST00000586572.1_Intron NM_144564.4 NP_653165.2 Q9BRY0 S39A3_HUMAN solute carrier family 39 (zinc transporter), member 3 270 integral to membrane|plasma membrane zinc ion transmembrane transporter activity endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 10 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) GGAAGGTGCCGCCCGCCAGGC 0.672000 22 81 0 0 1 0 0 SLC25A31 83447 broad.mit.edu 37 4 128688369 128688369 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:128688369A>G ENST00000281154.4 + 4 795 c.627A>G c.(625-627)acA>acG p.T209T NM_031291.2 NP_112581.1 Q9H0C2 ADT4_HUMAN solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31 209 transmembrane transport cilium|flagellum|integral to membrane|mitochondrial inner membrane binding|transporter activity NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2) 22 CTTATGACACAGTTAAGGTAA 0.338000 12 142 0 0 1 0 0 EIF2A 83939 broad.mit.edu 37 3 150290239 150290239 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:150290239C>T ENST00000460851.1 + 10 1415 c.1306C>T c.(1306-1308)Ccc>Tcc p.P436S EIF2A_ENST00000273435.5_Missense_Mutation_p.P431S|SERP1_ENST00000490945.1_Intron|EIF2A_ENST00000487799.1_Missense_Mutation_p.P411S|SERP1_ENST00000479209.1_Intron|EIF2A_ENST00000406576.3_Missense_Mutation_p.P375S|EIF2A_ENST00000383043.3_Missense_Mutation_p.P222S Q9BY44 EIF2A_HUMAN eukaryotic translation initiation factor 2A, 65kDa 436 regulation of translation|ribosome assembly eukaryotic translation initiation factor 2 complex ribosome binding|translation initiation factor activity|tRNA binding cervix(1)|endometrium(2)|kidney(1)|lung(3) 7 Melanoma(1037;0.0575) LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) AAGTGAAGTACCCAATGAGGA 0.373000 9 150 0 0 1 0 0 MYH7 4625 broad.mit.edu 37 14 23900121 23900121 + Missense_Mutation SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:23900121G>T ENST00000355349.3 - 10 1046 c.884C>A c.(883-885)cCt>cAt p.P295H NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 295 Myosin head-like. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) CAGCAGCTCAGGCTTTTTGTT 0.498000 18 217 2.35188e-11 2.44398e-11 1 1 0 RD3 343035 broad.mit.edu 37 1 211652549 211652549 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:211652549C>T ENST00000367002.4 - 3 1580 c.417G>A c.(415-417)acG>acA p.T139T RD3_ENST00000484910.1_5'UTR NM_001164688.1|NM_183059.2 NP_001158160.1|NP_898882.1 Q7Z3Z2 RD3_HUMAN retinal degeneration 3 139 response to stimulus|visual perception central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 10 OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689) TCCACTGGCGCGTCAGCTTGT 0.682000 7 14 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38905911 38905911 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:38905911T>C ENST00000359357.3 + 76 11328 c.11074T>C c.(11074-11076)Tac>Cac p.Y3692H DNAH8_ENST00000449981.2_Missense_Mutation_p.Y3909H|DNAH8_ENST00000441566.1_Missense_Mutation_p.Y3656H|RP1-207H1.3_ENST00000416948.1_RNA dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 AAGCATCCTCTACTTCCTCAT 0.517000 21 77 0 0 1 0 0 FAM19A2 338811 broad.mit.edu 37 12 62148730 62148730 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:62148730C>T ENST00000416284.3 - 3 1766 c.182G>A c.(181-183)cGg>cAg p.R61Q FAM19A2_ENST00000551619.1_Missense_Mutation_p.R61Q|FAM19A2_ENST00000551449.1_Intron|FAM19A2_ENST00000550003.1_5'UTR NM_178539.4 NP_848634.1 Q8N3H0 F19A2_HUMAN family with sequence similarity 19 (chemokine (C-C motif)-like), member A2 61 cytoplasm endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1) 15 GBM - Glioblastoma multiforme(1;0.00484) GBM - Glioblastoma multiforme(3;0.02) TGTTTGTGACCGTTCTTCTAT 0.483000 28 74 0 0 1 0 0 FAM65B 9750 broad.mit.edu 37 6 24843275 24843275 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:24843275C>T ENST00000259698.4 - 14 1910 c.1735G>A c.(1735-1737)Gcc>Acc p.A579T FAM65B_ENST00000510784.2_Missense_Mutation_p.A563T|FAM65B_ENST00000473070.1_5'UTR|FAM65B_ENST00000378023.4_Missense_Mutation_p.A529T|FAM65B_ENST00000540914.1_Missense_Mutation_p.A529T|FAM65B_ENST00000538035.1_Missense_Mutation_p.A558T NM_014722.2 NP_055537.2 Q9Y4F9 FA65B_HUMAN family with sequence similarity 65, member B 579 cell differentiation|muscle organ development cytoskeleton|filopodium|mitochondrion binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 25 CTGTCTGTGGCCATTGGCACC 0.512000 10 287 0 0 1 0 0 PNMA5 114824 broad.mit.edu 37 X 152159713 152159713 + Missense_Mutation SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chrX:152159713A>T ENST00000439251.1 - 2 868 c.430T>A c.(430-432)Tcc>Acc p.S144T PNMA5_ENST00000535214.1_Missense_Mutation_p.S144T|PNMA5_ENST00000452693.1_Missense_Mutation_p.S144T|PNMA5_ENST00000361887.5_Missense_Mutation_p.S144T NM_001103150.1 NP_001096620.1 Q96PV4 PNMA5_HUMAN paraneoplastic Ma antigen family member 5 144 apoptosis breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 Acute lymphoblastic leukemia(192;6.56e-05) AAAGGTGGGGATCTAACTTGG 0.537000 25 160 0 0 1 0 0 ZNF432 9668 broad.mit.edu 37 19 52537581 52537581 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:52537581G>A ENST00000594154.1 - 5 1563 c.1351C>T c.(1351-1353)Cat>Tat p.H451Y ZNF432_ENST00000221315.5_Missense_Mutation_p.H451Y O94892 ZN432_HUMAN zinc finger protein 432 451 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 29 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182) TCTCCTGTATGAGTTCGCTGA 0.428000 15 66 0 0 1 0 0 SUOX 6821 broad.mit.edu 37 12 56397410 56397410 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:56397410G>A ENST00000394109.3 + 3 961 c.237G>A c.(235-237)caG>caA p.Q79Q SUOX_ENST00000266971.3_Silent_p.Q79Q|SUOX_ENST00000356124.4_Silent_p.Q79Q|SUOX_ENST00000551841.2_Silent_p.Q79Q|SUOX_ENST00000548274.1_Silent_p.Q79Q|SUOX_ENST00000550478.1_3'UTR|SUOX_ENST00000394115.2_Silent_p.Q79Q P51687 SUOX_HUMAN sulfite oxidase 79 mitochondrial intermembrane space electron carrier activity|molybdenum ion binding|sulfite oxidase activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6) 15 UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119) AGGCTGCTCAGGAGTCAACAC 0.498000 4 151 0 0 1 0 0 BAHCC1 57597 broad.mit.edu 37 17 79426610 79426610 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:79426610A>G ENST00000307745.7 + 27 5885 c.5885A>G c.(5884-5886)tAc>tGc p.Y1962C CGATGTCTGTACCCGGGCAAC 0.657000 9 91 0 0 1 0 0 MFSD7 84179 broad.mit.edu 37 4 680338 680338 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:680338C>T ENST00000322224.4 - 2 590 c.277G>A c.(277-279)Gtc>Atc p.V93I MFSD7_ENST00000404286.2_Missense_Mutation_p.V93I|MFSD7_ENST00000515118.1_Missense_Mutation_p.V93I|MFSD7_ENST00000347950.5_Missense_Mutation_p.V71I|MFSD7_ENST00000513740.1_5'UTR|MFSD7_ENST00000503156.1_Missense_Mutation_p.V29I Q6UXD7 MFSD7_HUMAN major facilitator superfamily domain containing 7 93 transmembrane transport integral to membrane cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 11 CGGAGCCCGACGGAGTCCAGG 0.647000 42 112 0 0 1 0 0 PRDM14 63978 broad.mit.edu 37 8 70981504 70981504 + Missense_Mutation SNP T T A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:70981504T>A ENST00000276594.2 - 2 793 c.592A>T c.(592-594)Acg>Tcg p.T198S NM_024504.3 NP_078780.1 Q9GZV8 PRD14_HUMAN PR domain containing 14 198 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Breast(64;0.193) Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405) TCCTCCTCCGTGAACTGGAAC 0.602000 4 118 0 0 1 0 0 SBNO1 55206 broad.mit.edu 37 12 123782699 123782699 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:123782699C>T ENST00000420886.2 - 30 3864 c.3865G>A c.(3865-3867)Gca>Aca p.A1289T SBNO1_ENST00000267176.4_Missense_Mutation_p.A1288T|SBNO1_ENST00000602398.1_Missense_Mutation_p.A1289T|SBNO1_ENST00000602750.1_Missense_Mutation_p.A1288T NM_001167856.1 NP_001161328.1 A3KN83 SBNO1_HUMAN strawberry notch homolog 1 (Drosophila) 1289 ATP binding|DNA binding|hydrolase activity NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2) 62 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) CCCAAGCTTGCTTTTTTGCAA 0.393000 4 129 0 0 1 0 0 CCDC66 285331 broad.mit.edu 37 3 56653450 56653450 + Missense_Mutation SNP T T A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:56653450T>A ENST00000394672.3 + 16 2600 c.2530T>A c.(2530-2532)Tcc>Acc p.S844T CCDC66_ENST00000326595.7_Missense_Mutation_p.S810T|CCDC66_ENST00000436465.2_Missense_Mutation_p.S844T NM_001012506.4|NM_001141947.1 NP_001012524.4|NP_001135419.1 A2RUB6 CCD66_HUMAN coiled-coil domain containing 66 844 breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1) 12 KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233) TTCTGAATCATCCCATTTTAT 0.378000 25 69 0 0 1 0 0 FOXN3 1112 broad.mit.edu 37 14 89647123 89647123 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:89647123G>A ENST00000345097.4 - 6 955 c.839C>T c.(838-840)gCg>gTg p.A280V FOXN3_ENST00000261302.5_Missense_Mutation_p.A280V|FOXN3_ENST00000557258.1_Missense_Mutation_p.A258V|FOXN3_ENST00000555353.1_Missense_Mutation_p.A258V NM_001085471.1 NP_001078940.1 O00409 FOXN3_HUMAN forkhead box N3 280 DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 CAGGACCCGCGCTCCATTTTG 0.562000 10 20 0 0 1 0 0 BCKDHB 594 broad.mit.edu 37 6 80838882 80838882 + Silent SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:80838882A>T ENST00000545529.1 + 3 307 c.279A>T c.(277-279)atA>atT p.I93I BCKDHB_ENST00000369760.4_Silent_p.I93I|BCKDHB_ENST00000356489.5_Silent_p.I93I|BCKDHB_ENST00000320393.6_Silent_p.I93I|BCKDHB_ENST00000486968.1_3'UTR P21953 ODBB_HUMAN branched chain keto acid dehydrogenase E1, beta polypeptide 93 branched chain family amino acid catabolic process mitochondrial alpha-ketoglutarate dehydrogenase complex 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1) 15 all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149) BRCA - Breast invasive adenocarcinoma(397;0.0291) TTTCAGTAATATTTGGTGAAG 0.259000 20 71 0 0 1 0 0 FEM1B 10116 broad.mit.edu 37 15 68582120 68582120 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:68582120G>A ENST00000306917.4 + 2 1039 c.424G>A c.(424-426)Gaa>Aaa p.E142K NM_015322.3 NP_056137.1 Q9UK73 FEM1B_HUMAN fem-1 homolog b (C. elegans) 142 apoptosis|induction of apoptosis|regulation of DNA damage checkpoint|regulation of ubiquitin-protein ligase activity cytoplasm|nucleus death receptor binding|ubiquitin-protein ligase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1) 9 ATACTTGGTTGAAAATAATGC 0.453000 12 55 0 0 1 0 0 SLC5A8 160728 broad.mit.edu 37 12 101560442 101560442 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:101560442A>G ENST00000536262.2 - 12 1914 c.1356T>C c.(1354-1356)atT>atC p.I452I NM_145913.3 NP_666018.3 Q8N695 SC5A8_HUMAN solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8 452 apoptosis|sodium ion transport apical plasma membrane|integral to membrane monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 CCCATAGAGAAATGGCAAATC 0.378000 26 29 0 0 1 0 0 FAM135B 51059 broad.mit.edu 37 8 139164668 139164668 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:139164668A>G ENST00000395297.1 - 13 2220 c.2050T>C c.(2050-2052)Tct>Cct p.S684P NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 684 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) CCTGAATCAGATATGATGGAT 0.532000 HNSCC(54;0.14) 49 73 0 0 1 0 0 GALNT10 55568 broad.mit.edu 37 5 153677561 153677561 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:153677561A>G ENST00000297107.6 + 3 460 c.323A>G c.(322-324)tAc>tGc p.Y108C GALNT10_ENST00000425427.2_Missense_Mutation_p.Y108C|GALNT10_ENST00000377661.2_Missense_Mutation_p.Y108C NM_198321.3 NP_938080.1 Q86SR1 GLT10_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10) 108 Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 32 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21) Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577) GATCAGGCATACCGAGAAAAT 0.428000 40 123 0 0 1 0 0 MED26 9441 broad.mit.edu 37 19 16687460 16687460 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:16687460T>C ENST00000263390.3 - 3 1443 c.1181A>G c.(1180-1182)aAg>aGg p.K394R CTD-3222D19.2_ENST00000409035.1_Missense_Mutation_p.K402R NM_004831.3 NP_004822.2 O95402 MED26_HUMAN mediator complex subunit 26 394 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1) 8 GTACCTCTTCTTCTTTTTACT 0.602000 3 46 0 0 1 0 0 UCKL1 54963 broad.mit.edu 37 20 62577008 62577008 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:62577008A>G ENST00000369908.5 - 5 904 c.605T>C c.(604-606)tTg>tCg p.L202S UCKL1_ENST00000369892.3_Missense_Mutation_p.L217S|UCKL1_ENST00000358711.3_Missense_Mutation_p.L217S|UCKL1_ENST00000354216.6_Missense_Mutation_p.L217S NM_001193379.1 NP_001180308.1 Q9NWZ5 UCKL1_HUMAN uridine-cytidine kinase 1-like 1 217 interspecies interaction between organisms endoplasmic reticulum|nucleus ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08) GCTTACCTCCAACAGTGTCTT 0.587000 6 69 0 0 1 0 0 PLEKHF1 79156 broad.mit.edu 37 19 30164827 30164827 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:30164827G>A ENST00000436066.3 + 2 547 c.81G>A c.(79-81)caG>caA p.Q27Q PLEKHF1_ENST00000592810.1_Silent_p.Q27Q NM_024310.4 NP_077286.3 Q96S99 PKHF1_HUMAN pleckstrin homology domain containing, family F (with FYVE domain) member 1 27 apoptosis lysosome|nucleus|perinuclear region of cytoplasm metal ion binding breast(1)|lung(3)|ovary(1)|prostate(1) 6 Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239) UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225) CCTCGGGGCAGCCGCTGGCGC 0.657000 17 81 0 0 1 0 0 WDR70 55100 broad.mit.edu 37 5 37725149 37725149 + Missense_Mutation SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:37725149C>A ENST00000265107.4 + 16 1867 c.1711C>A c.(1711-1713)Cca>Aca p.P571T NM_018034.2 NP_060504.1 Q9NW82 WDR70_HUMAN WD repeat domain 70 571 central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 all_lung(31;0.000285) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TGTAGCAGGCCCAGGTGACTG 0.537000 23 83 7.87624e-14 8.22829e-14 1 1 0 ABCC4 10257 broad.mit.edu 37 13 95815404 95815404 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr13:95815404A>G ENST00000376887.4 - 18 2394 c.2280T>C c.(2278-2280)gaT>gaC p.D760D ABCC4_ENST00000536256.1_Silent_p.D685D|ABCC4_ENST00000431522.1_Silent_p.D760D|ABCC4_ENST00000412704.1_Silent_p.D713D NM_005845.3 NP_005836.2 O15439 MRP4_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 4 760 ABC transmembrane type-1 2. platelet activation|platelet degranulation integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 all_neural(89;0.0878)|Medulloblastoma(90;0.163) Cefazolin(DB01327) ACCAGTTAAGATCTAGCTTCT 0.373000 5 146 0 0 1 0 0 AXIN1 8312 broad.mit.edu 37 16 396838 396838 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:396838C>T ENST00000262320.3 - 2 559 c.188G>A c.(187-189)cGc>cAc p.R63H AXIN1_ENST00000481769.1_Intron|AXIN1_ENST00000354866.3_Missense_Mutation_p.R63H NM_003502.3 NP_003493.1 O15169 AXIN1_HUMAN axin 1 63 activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2) 221 all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187) CAGATCCGAGCGCCTCGGAGT 0.602000 OREG0003698 type=REGULATORY REGION|Gene=AXIN1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 19 33 0 0 1 0 0 PLD6 201164 broad.mit.edu 37 17 17106358 17106358 + Missense_Mutation SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:17106358A>T ENST00000321560.3 - 2 510 c.482T>A c.(481-483)aTc>aAc p.I161N RP11-45M22.4_ENST00000427497.3_3'UTR NM_178836.3 NP_849158.2 Q8N2A8 PLD6_HUMAN phospholipase D family, member 6 161 PLD phosphodiesterase. DNA methylation involved in gamete generation|lipid catabolic process|meiosis|mitochondrial fusion|P granule organization|piRNA metabolic process|spermatid development integral to membrane|mitochondrial outer membrane cardiolipin hydrolase activity|protein homodimerization activity endometrium(1)|lung(1) 2 CTTGTCCACGATGGCAAACTT 0.552000 16 71 0 0 1 0 0 ZNF718 255403 broad.mit.edu 37 4 155776 155776 + RNA SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:155776A>G ENST00000510175.1 + 0 1211 Q3SXZ3 ZN718_HUMAN zinc finger protein 718 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18) GCCTTTAAACAGTCCTCACAC 0.363000 11 26 0 0 1 0 0 SNX21 90203 broad.mit.edu 37 20 44463689 44463689 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:44463689A>G ENST00000372542.1 + 2 666 c.354A>G c.(352-354)gcA>gcG p.A118A SNX21_ENST00000344780.4_3'UTR|SNX21_ENST00000342644.5_Silent_p.A127A|SNX21_ENST00000462307.1_Silent_p.A127A|SNX21_ENST00000491381.1_Silent_p.A127A|SNX21_ENST00000372541.1_Silent_p.A118A Q969T3 SNX21_HUMAN sorting nexin family member 21 127 cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding breast(1)|endometrium(2)|large_intestine(1)|lung(2)|pancreas(1) 7 Myeloproliferative disorder(115;0.0122) ACACCTTGGCACCCCAGCGGC 0.622000 15 103 0 0 1 0 0 DOCK5 80005 broad.mit.edu 37 8 25258486 25258486 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:25258486A>G ENST00000276440.7 + 47 4874 c.4830A>G c.(4828-4830)aaA>aaG p.K1610K NM_024940.6 NP_079216.4 Q9H7D0 DOCK5_HUMAN dedicator of cytokinesis 5 1610 DHR-2. cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143) UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828) ATGGGGAGAAACTCACAGAGC 0.488000 27 367 0 0 1 0 0 GJA5 2702 broad.mit.edu 37 1 147230337 147230337 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:147230337T>C ENST00000271348.2 - 2 1171 c.1010A>G c.(1009-1011)tAt>tGt p.Y337C GJA5_ENST00000369237.1_Missense_Mutation_p.Y337C|RP11-433J22.2_ENST00000428911.1_RNA NM_005266.5|NM_181703.2 NP_005257.2|NP_859054.1 P36382 CXA5_HUMAN gap junction protein, alpha 5, 40kDa 337 angiogenesis|cell-cell junction assembly|muscle contraction integral to membrane breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 20 all_hematologic(923;0.0276) LUSC - Lung squamous cell carcinoma(543;0.202) GTCACTATGATAGCCATGGGG 0.557000 4 109 0 0 1 0 0 HIST1H4F 8361 broad.mit.edu 37 6 26240866 26240866 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:26240866A>G ENST00000377745.2 + 1 306 c.213A>G c.(211-213)gtA>gtG p.V71V NM_003540.3 NP_003531.1 P62805 H4_HUMAN histone cluster 1, H4f 71 V -> A (in Ref. 14; AAH67496). CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1) 5 all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167) GGGACGCCGTAACCTACACGG 0.582000 10 63 0 0 1 0 0 DCDC2B 149069 broad.mit.edu 37 1 32674856 32674856 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:32674856T>C ENST00000409358.1 + 1 162 c.162T>C c.(160-162)cgT>cgC p.R54R NM_001099434.1 NP_001092904.1 A2VCK2 DCD2B_HUMAN doublecortin domain containing 2B 54 Doublecortin 1. intracellular signal transduction breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1) 11 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) TGGCTGTGCGTGCCCTCTACA 0.602000 25 74 0 0 1 0 0 LANCL2 55915 broad.mit.edu 37 7 55467744 55467744 + Missense_Mutation SNP T T A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:55467744T>A ENST00000254770.2 + 4 1203 c.625T>A c.(625-627)Tac>Aac p.Y209N LANCL2_ENST00000486376.1_3'UTR NM_018697.3 NP_061167.1 Q9NS86 LANC2_HUMAN LanC lantibiotic synthetase component C-like 2 (bacterial) 209 negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway cortical actin cytoskeleton|cytosol|nucleus|plasma membrane ATP binding|catalytic activity|GTP binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1) 25 Breast(14;0.0379) Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706) TGCCTTACTGTACCTGAACAC 0.483000 36 104 0 0 1 0 0 CTD-3074O7.11 0 broad.mit.edu 37 11 66297301 66297301 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:66297301G>A ENST00000419755.3 + 14 1540 c.1462G>A c.(1462-1464)Gcc>Acc p.A488T ZDHHC24_ENST00000526986.1_Intron|BBS1_ENST00000455748.2_Missense_Mutation_p.A354T|BBS1_ENST00000393994.2_Missense_Mutation_p.A322T|BBS1_ENST00000318312.7_Missense_Mutation_p.A451T CATGCACCGGGCCTTCCAGAC 0.677000 37 85 0 0 1 0 0 LIM2 3982 broad.mit.edu 37 19 51883888 51883888 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:51883888A>G ENST00000221973.3 - 4 499 c.457T>C c.(457-459)Ttc>Ctc p.F153L LIM2_ENST00000596399.1_Missense_Mutation_p.F111L NM_030657.3 NP_085915.2 P55344 LMIP_HUMAN lens intrinsic membrane protein 2, 19kDa 111 cell-cell junction assembly cell junction|integral to membrane structural constituent of eye lens endometrium(1)|large_intestine(3)|lung(2)|skin(1) 7 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985) AACACGACGAAAAGGGCTGgg 0.602000 31 78 0 0 1 0 0 RUNX2 860 broad.mit.edu 37 6 45390430 45390430 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:45390430A>G ENST00000371438.1 + 2 517 c.159A>G c.(157-159)caA>caG p.Q53Q RUNX2_ENST00000541979.1_Silent_p.Q121Q|RUNX2_ENST00000371436.6_Silent_p.Q53Q|RUNX2_ENST00000465038.2_Silent_p.Q53Q|RUNX2_ENST00000359524.5_Silent_p.Q39Q|RUNX2_ENST00000576263.1_Silent_p.Q53Q|RUNX2_ENST00000371432.3_Silent_p.Q39Q|RUNX2_ENST00000352853.5_Silent_p.Q121Q NM_001024630.3 NP_001019801.3 Q13950 RUNX2_HUMAN runt-related transcription factor 2 53 Poly-Gln. Q -> L (in CLCD). negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 agcagcagcaacagcagcagc 0.726000 25 72 0 0 1 0 0 KIAA1958 158405 broad.mit.edu 37 9 115422041 115422041 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:115422041G>A ENST00000337530.6 + 4 2139 c.1843G>A c.(1843-1845)Ggg>Agg p.G615R KIAA1958_ENST00000536272.1_Missense_Mutation_p.G643R NM_133465.2 NP_597722.1 Q8N8K9 K1958_HUMAN KIAA1958 615 endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3) 25 AGTGTGTCACGGGAAGATCTA 0.587000 15 41 0 0 1 0 0 ADAMTS1 9510 broad.mit.edu 37 21 28210880 28210880 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr21:28210880T>C ENST00000284984.2 - 8 2536 c.2082A>G c.(2080-2082)ggA>ggG p.G694G NM_006988.3 NP_008919.3 Q9UHI8 ATS1_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 1 694 Cys-rich. integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis heparin binding|zinc ion binding central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 42 Breast(209;0.000962) Lung(58;0.215) TTACACACTGTCCTTGCACAC 0.408000 12 33 0 0 1 0 0 MBD3L1 85509 broad.mit.edu 37 19 8953875 8953875 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:8953875C>T ENST00000595891.1 + 3 752 c.521C>T c.(520-522)gCg>gTg p.A174V MBD3L1_ENST00000305625.2_Missense_Mutation_p.A174V Q8WWY6 MB3L1_HUMAN methyl-CpG binding domain protein 3-like 1 174 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|cervix(1)|large_intestine(5)|liver(1)|lung(2)|skin(2) 12 GCACTGATTGCGGATGGACTC 0.448000 7 25 0 0 1 0 0 USP43 124739 broad.mit.edu 37 17 9631546 9631546 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:9631546G>A ENST00000570827.2 + 15 2752 c.1678G>A c.(1678-1680)Gcc>Acc p.A560T USP43_ENST00000285199.6_Missense_Mutation_p.A871T|USP43_ENST00000570475.1_Missense_Mutation_p.A866T Q70EL4 UBP43_HUMAN ubiquitin specific peptidase 43 871 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 26 GTCCAACGTCGCCCTTCCTGC 0.627000 14 28 0 0 1 0 0 ASB4 51666 broad.mit.edu 37 7 95115461 95115461 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:95115461T>C ENST00000325885.5 + 1 249 c.178T>C c.(178-180)Tat>Cat p.Y60H ASB4_ENST00000428113.1_Missense_Mutation_p.Y60H|ASB4_ENST00000257621.4_Intron NM_016116.2 NP_057200.1 Q9Y574 ASB4_HUMAN ankyrin repeat and SOCS box containing 4 60 intracellular signal transduction central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2) 20 all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246) STAD - Stomach adenocarcinoma(171;0.0151) TTTGGCATCTTATAAACAAGG 0.323000 19 83 0 0 1 0 0 PIGS 94005 broad.mit.edu 37 17 26897899 26897899 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:26897899A>G ENST00000308360.7 - 3 632 c.257T>C c.(256-258)gTt>gCt p.V86A PIGS_ENST00000543734.1_Missense_Mutation_p.V25A|PIGS_ENST00000395346.2_Missense_Mutation_p.V78A NM_033198.3 NP_149975.1 Q96S52 PIGS_HUMAN phosphatidylinositol glycan anchor biosynthesis, class S 86 attachment of GPI anchor to protein|C-terminal protein lipidation GPI-anchor transamidase complex protein binding breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Lung NSC(42;0.00431) TTCATGCACAACGGTGAAGGG 0.562000 35 113 0 0 1 0 0 UGT2B10 7365 broad.mit.edu 37 4 69693187 69693187 + Missense_Mutation SNP G G A rs71615102 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:69693187G>A ENST00000265403.7 + 5 1255 c.1228G>A c.(1228-1230)Gca>Aca p.A410T UGT2B10_ENST00000458688.2_Missense_Mutation_p.A326T NM_001075.4 NP_001066.1 P36537 UDB10_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B10 410 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 29 GGCCAAGGGAGCAGCTGTTAG 0.423000 7 191 0 0 1 0 0 C11orf68 83638 broad.mit.edu 37 11 65685199 65685199 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:65685199G>A ENST00000438576.2 - 2 698 c.613C>T c.(613-615)Cgt>Tgt p.R205C C11orf68_ENST00000449692.3_Missense_Mutation_p.R204C|C11orf68_ENST00000530188.1_Missense_Mutation_p.R163C Q9H3H3 CK068_HUMAN chromosome 11 open reading frame 68 163 large_intestine(1)|lung(3) 4 READ - Rectum adenocarcinoma(159;0.166) TCCTTGGCACGTGGGCTCACC 0.642000 19 25 0 0 1 0 0 SRRM2 23524 broad.mit.edu 37 16 2816519 2816519 + Missense_Mutation SNP G G A rs138447860 byFrequency TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:2816519G>A ENST00000301740.8 + 11 6539 c.5990G>A c.(5989-5991)cGc>cAc p.R1997H NM_016333.3 NP_057417.3 Q9UQ35 SRRM2_HUMAN serine/arginine repetitive matrix 2 1997 Arg-rich.|Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 TCTCGATCTCGCACATCTCCA 0.577000 4 103 0 0 1 0 0 STXBP2 6813 broad.mit.edu 37 19 7709636 7709636 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:7709636A>G ENST00000441779.2 + 14 1314 c.1277A>G c.(1276-1278)aAt>aGt p.N426S STXBP2_ENST00000414284.2_Missense_Mutation_p.N412S|STXBP2_ENST00000221283.5_Missense_Mutation_p.N415S NM_001272034.1 NP_001258963.1 Q15833 STXB2_HUMAN syntaxin binding protein 2 415 leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule syntaxin-3 binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 23 CTCCTTCGGAATGGTGGGTGG 0.607000 22 62 0 0 1 0 0 KNDC1 85442 broad.mit.edu 37 10 135012647 135012647 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:135012647G>A ENST00000304613.3 + 14 2656 c.2635G>A c.(2635-2637)Gtg>Atg p.V879M KNDC1_ENST00000368571.2_Missense_Mutation_p.V814M|KNDC1_ENST00000368572.2_Missense_Mutation_p.V879M Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) containing 1 879 Pro-rich. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 60 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) TCTGCCCTGCGTGGATGCCTC 0.692000 3 10 0 0 1 0 0 NFATC3 4775 broad.mit.edu 37 16 68200872 68200872 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:68200872T>C ENST00000349223.5 + 5 1952 c.1728T>C c.(1726-1728)agT>agC p.S576S NFATC3_ENST00000329524.4_Silent_p.S576S|NFATC3_ENST00000575270.1_Silent_p.S576S|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000346183.3_Silent_p.S576S NM_173163.2 NP_775186.1 Q12968 NFAC3_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3 576 RHD. inflammatory response|transcription from RNA polymerase II promoter nucleolus|plasma membrane DNA binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 44 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24) CACAGCCCAGTGGAAAAGTCC 0.398000 29 110 0 0 1 0 0 RAD18 56852 broad.mit.edu 37 3 8990250 8990250 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:8990250G>A ENST00000264926.2 - 3 254 c.138C>T c.(136-138)tgC>tgT p.C46C RAD18_ENST00000495087.1_5'UTR NM_020165.3 NP_064550.3 Q9NS91 RAD18_HUMAN RAD18 homolog (S. cerevisiae) 46 DNA repair nucleus|replication fork damaged DNA binding|ligase activity|ubiquitin protein ligase binding|Y-form DNA binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3) 15 OV - Ovarian serous cystadenocarcinoma(96;0.0552) TACAGAGAGAGCAGTCTGCAA 0.333000 Rad6 pathway 17 138 0 0 1 0 0 RBM12B 389677 broad.mit.edu 37 8 94746046 94746046 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:94746046A>G ENST00000399300.2 - 3 2806 c.2593T>C c.(2593-2595)Ttt>Ctt p.F865L RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000517700.1_Missense_Mutation_p.F745L|RBM12B_ENST00000520961.1_Intron NM_203390.2 NP_976324.2 Q8IXT5 RB12B_HUMAN RNA binding motif protein 12B 865 nucleotide binding|RNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 30 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.0168) GGAGGTCTAAAATTGTCAGGA 0.498000 17 267 0 0 1 0 0 MKNK2 2872 broad.mit.edu 37 19 2043156 2043156 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:2043156G>A ENST00000250896.3 - 7 704 c.460C>T c.(460-462)Cgc>Tgc p.R154C MKNK2_ENST00000541165.1_Missense_Mutation_p.R23C|MKNK2_ENST00000309340.7_Missense_Mutation_p.R154C|MKNK2_ENST00000591601.1_Missense_Mutation_p.R154C NM_199054.2 NP_951009.1 Q9HBH9 MKNK2_HUMAN MAP kinase interacting serine/threonine kinase 2 154 Protein kinase. cell surface receptor linked signaling pathway|intracellular protein kinase cascade|regulation of translation ATP binding|metal ion binding|protein serine/threonine kinase activity breast(1)|kidney(3)|large_intestine(3)|lung(3) 10 Ovarian(11;2.11e-07)|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) AGGTAGAAGCGGTCCTCCTCC 0.632000 72 205 0 0 1 0 0 C19orf59 199675 broad.mit.edu 37 19 7743445 7743445 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:7743445A>G ENST00000333598.3 + 5 896 c.442A>G c.(442-444)Acc>Gcc p.T148A CTD-3214H19.16_ENST00000597959.1_Missense_Mutation_p.H20R|C19orf59_ENST00000597445.1_Missense_Mutation_p.T105A NM_174918.2 NP_777578.2 Q8IX19 MCEM1_HUMAN chromosome 19 open reading frame 59 148 integral to membrane endometrium(1)|lung(2)|skin(1)|stomach(1) 5 GCAGAGCATCACCATGGTCAG 0.512000 OREG0025208 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 58 0 0 1 0 0 PAQR9 344838 broad.mit.edu 37 3 142681980 142681980 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:142681980G>A ENST00000340634.3 - 1 198 c.199C>T c.(199-201)Ccg>Tcg p.P67S RP11-372E1.6_ENST00000594095.1_RNA NM_198504.2 NP_940906.1 Q6ZVX9 PAQR9_HUMAN progestin and adipoQ receptor family member IX 67 integral to membrane receptor activity endometrium(2)|large_intestine(7)|lung(12)|prostate(1) 22 GCCGTGCACGGCAGACGCCGG 0.657000 12 21 0 0 1 0 0 EBF1 1879 broad.mit.edu 37 5 158139231 158139231 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:158139231C>T ENST00000313708.6 - 14 1762 c.1480G>A c.(1480-1482)Gcc>Acc p.A494T EBF1_ENST00000380654.4_Missense_Mutation_p.A463T|EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000517373.1_Intron NM_024007.3 NP_076870.1 Q9UH73 COE1_HUMAN early B-cell factor 1 494 Pro/Ser/Thr-rich. multicellular organismal development nucleus DNA binding|metal ion binding HMGA2/EBF1(2) breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 42 Renal(175;0.00196) Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GACATTGCGGCAGAGCCGTAT 0.577000 T HMGA2 lipoma 7 38 0 0 1 0 0 LRIG2 9860 broad.mit.edu 37 1 113655205 113655205 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:113655205T>C ENST00000361127.4 + 14 2101 c.1903T>C c.(1903-1905)Tgg>Cgg p.W635R LRIG2_ENST00000492207.1_3'UTR NM_014813.1 NP_055628.1 O94898 LRIG2_HUMAN leucine-rich repeats and immunoglobulin-like domains 2 635 Ig-like C2-type 2. cytoplasm|integral to membrane|plasma membrane breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1) 31 Lung SC(450;0.246) all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986) Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15) TCAGATTTCCTGGCAGAAAGA 0.498000 38 125 0 0 1 0 0 TMEM33 55161 broad.mit.edu 37 4 41946932 41946932 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:41946932T>C ENST00000504986.1 + 5 884 c.519T>C c.(517-519)ttT>ttC p.F173F TMEM33_ENST00000325094.5_Silent_p.F173F|TMEM33_ENST00000513702.1_Silent_p.F173F NM_018126.2 NP_060596.2 P57088 TMM33_HUMAN transmembrane protein 33 173 integral to membrane|melanosome protein binding endometrium(1)|large_intestine(3)|lung(4)|ovary(1) 9 CGACAGTTTTTATGCTTTTTA 0.323000 15 59 0 0 1 0 0 TJP1 7082 broad.mit.edu 37 15 30058575 30058575 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:30058575T>C ENST00000346128.6 - 5 957 c.483A>G c.(481-483)gcA>gcG p.A161A TJP1_ENST00000545208.2_Silent_p.A161A|TJP1_ENST00000356107.6_Silent_p.A161A|TJP1_ENST00000495972.2_Silent_p.A161A|TJP1_ENST00000400011.2_Silent_p.A165A NM_003257.3|NM_175610.2 NP_003248.3|NP_783297.2 Q07157 ZO1_HUMAN tight junction protein 1 161 cell-cell junction assembly|cellular component disassembly involved in apoptosis basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1) 68 all_lung(180;7.48e-11)|Breast(32;0.000153) all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186) TCTCTCTACTTGCACTTCTAT 0.498000 20 121 0 0 1 0 0 EPAS1 2034 broad.mit.edu 37 2 46587855 46587855 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:46587855A>G ENST00000263734.3 + 5 1043 c.533A>G c.(532-534)aAc>aGc p.N178S NM_001430.4 NP_001421.2 Q99814 EPAS1_HUMAN endothelial PAS domain protein 1 178 angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia transcription factor complex histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) LUSC - Lung squamous cell carcinoma(58;0.151) ACGGTCACCAACAGAGGCCGT 0.552000 19 65 0 0 1 0 0 TAS2R41 259287 broad.mit.edu 37 7 143175750 143175750 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:143175750A>G ENST00000408916.1 + 1 785 c.785A>G c.(784-786)aAc>aGc p.N262S EPHA1-AS1_ENST00000429289.1_RNA NM_176883.2 NP_795364.2 P59536 T2R41_HUMAN taste receptor, type 2, member 41 262 sensory perception of taste integral to membrane G-protein coupled receptor activity endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1) 18 Melanoma(164;0.15) TCCATGCAGAACGACTTTTAC 0.473000 29 89 0 0 1 0 0 ATXN7L3 56970 broad.mit.edu 37 17 42271917 42271917 + Missense_Mutation SNP G G C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:42271917G>C ENST00000389384.4 - 11 1171 c.863C>G c.(862-864)tCc>tGc p.S288C ATXN7L3_ENST00000593073.1_5'UTR|ATXN7L3_ENST00000454077.2_Missense_Mutation_p.S295C NM_001098833.1 NP_001092303.1 Q14CW9 AT7L3_HUMAN ataxin 7-like 3 288 histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent SAGA complex ligand-dependent nuclear receptor transcription coactivator activity|metal ion binding|protein binding kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2) 12 Breast(137;0.00765)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.113) ACTCGTCTTGGAGGAGCCTGA 0.582000 11 34 0 0 1 0 0 MSH5-SAPCD1 100532732 broad.mit.edu 37 6 31729604 31729604 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:31729604A>G ENST00000493662.2 + 23 2298 c.2242A>G c.(2242-2244)Acc>Gcc p.T748A MSH5_ENST00000375755.3_Missense_Mutation_p.T731A|MSH5-SAPCD1_ENST00000491552.1_3'UTR|MSH5_ENST00000431848.2_Missense_Mutation_p.T430A|MSH5_ENST00000375703.3_Missense_Mutation_p.T732A|MSH5_ENST00000534153.4_Missense_Mutation_p.T748A|MSH5_ENST00000375740.3_Missense_Mutation_p.T749A|MSH5_ENST00000375742.3_Missense_Mutation_p.T748A|MSH5_ENST00000375750.3_Missense_Mutation_p.T731A|MSH5_ENST00000395853.1_Missense_Mutation_p.T405A GACCATGGAGACCTGTGAGGA 0.517000 78 213 0 0 1 0 0 GRTP1 79774 broad.mit.edu 37 13 113980283 113980283 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr13:113980283A>G ENST00000375430.4 - 6 732 c.686T>C c.(685-687)cTg>cCg p.L229P GRTP1_ENST00000326039.3_Missense_Mutation_p.L151P|GRTP1_ENST00000375431.4_Missense_Mutation_p.L229P Q5TC63 GRTP1_HUMAN growth hormone regulated TBC protein 1 229 Rab-GAP TBC. intracellular Rab GTPase activator activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1) 14 Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0314)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0978)|Breast(118;0.188) all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246) GCGGGACACCAGCAGCGTCCA 0.697000 27 88 0 0 1 0 0 NEU4 129807 broad.mit.edu 37 2 242757535 242757535 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:242757535G>A ENST00000391969.2 + 5 1327 c.616G>A c.(616-618)Ggc>Agc p.G206S NEU4_ENST00000405370.1_Missense_Mutation_p.G206S|NEU4_ENST00000325935.6_Missense_Mutation_p.G219S|NEU4_ENST00000404257.1_Missense_Mutation_p.G218S|NEU4_ENST00000407683.1_Missense_Mutation_p.G206S NM_001167602.1 NP_001161074.1 Q8WWR8 NEUR4_HUMAN sialidase 4 206 lysosomal lumen|organelle inner membrane exo-alpha-sialidase activity|protein binding breast(1)|lung(10)|prostate(2)|skin(2) 15 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825) CGATGACCACGGCCGCACCTG 0.677000 18 21 0 0 1 0 0 HPS5 11234 broad.mit.edu 37 11 18332378 18332378 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:18332378G>A ENST00000396253.3 - 4 507 c.45C>T c.(43-45)ctC>ctT p.L15L HPS5_ENST00000438420.2_Silent_p.L15L|HPS5_ENST00000531848.1_Silent_p.L15L|HPS5_ENST00000349215.3_Silent_p.L129L NM_007216.3 NP_009147.3 Q9UPZ3 HPS5_HUMAN Hermansky-Pudlak syndrome 5 129 cytosol breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 TATCCCAGCAGAGAGCTGTGA 0.428000 Hermansky-Pudlak syndrome 21 61 0 0 1 0 0 ATG2B 55102 broad.mit.edu 37 14 96752283 96752283 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:96752283C>T ENST00000359933.4 - 42 6939 c.6046G>A c.(6046-6048)Gct>Act p.A2016T NM_018036.5 NP_060506.5 Q96BY7 ATG2B_HUMAN autophagy related 2B 2016 breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7) 64 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) TGTTCTCGAGCCGCAGTTTCA 0.567000 8 21 0 0 1 0 0 METTL13 51603 broad.mit.edu 37 1 171753286 171753286 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:171753286C>T ENST00000361735.3 + 2 826 c.560C>T c.(559-561)gCc>gTc p.A187V METTL13_ENST00000458517.1_Missense_Mutation_p.A186V|METTL13_ENST00000367737.5_Intron|METTL13_ENST00000362019.3_Missense_Mutation_p.A101V NM_015935.4 NP_057019.3 Q8N6R0 MTL13_HUMAN methyltransferase like 13 187 methyltransferase activity|protein binding breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3) 41 CACCAAGTGGCCAACAGCCAG 0.587000 31 84 0 0 1 0 0 OR6T1 219874 broad.mit.edu 37 11 123814022 123814022 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:123814022T>C ENST00000321252.2 - 1 558 c.524A>G c.(523-525)gAc>gGc p.D175G NM_001005187.1 NP_001005187.1 Q8NGN1 OR6T1_HUMAN olfactory receptor, family 6, subfamily T, member 1 175 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) AAAGAAGTGGTCAATACCATT 0.557000 25 71 0 0 1 0 0 HDAC9 9734 broad.mit.edu 37 7 18833006 18833006 + Silent SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:18833006C>A ENST00000406451.3 + 17 2394 c.2244C>A c.(2242-2244)tcC>tcA p.S748S HDAC9_ENST00000441542.2_Silent_p.S751S|HDAC9_ENST00000432645.2_Silent_p.S748S|HDAC9_ENST00000401921.1_Silent_p.S707S NM_178423.1|NM_178425.2 NP_848510.1|NP_848512.1 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 748 Histone deacetylase. B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) TACACTCGTCCGGTGCTGCAC 0.527000 4 6 3.59834e-05 3.66827e-05 1 1 0 TRIM16 10626 broad.mit.edu 37 17 15554474 15554474 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:15554474G>A ENST00000455584.2 - 1 493 c.450C>T c.(448-450)tgC>tgT p.C150C TRIM16_ENST00000336708.7_Silent_p.C150C|TRIM16_ENST00000416464.2_Intron|TRIM16_ENST00000578237.1_Silent_p.C150C|TRIM16_ENST00000581224.1_Intron AACAGTCCTGGCAGATGCACT 0.602000 16 89 0 0 1 0 0 ANO2 57101 broad.mit.edu 37 12 6030501 6030501 + Missense_Mutation SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:6030501G>T ENST00000546188.1 - 3 298 c.227C>A c.(226-228)cCt>cAt p.P76H ANO2_ENST00000356134.5_Missense_Mutation_p.P76H|ANO2_ENST00000327087.8_Missense_Mutation_p.P76H Q9NQ90 ANO2_HUMAN anoctamin 2 80 chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1) 58 CAAGGACACAGGCTCATTGGC 0.557000 19 81 1.00905e-13 1.05366e-13 1 1 0 RNF111 54778 broad.mit.edu 37 15 59323315 59323315 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:59323315G>A ENST00000348370.4 + 2 727 c.294G>A c.(292-294)caG>caA p.Q98Q RNF111_ENST00000434298.1_Silent_p.Q98Q|RNF111_ENST00000559209.1_Silent_p.Q98Q|RNF111_ENST00000561186.1_Silent_p.Q98Q|RNF111_ENST00000557998.1_Silent_p.Q98Q NM_001270528.1|NM_001270529.1|NM_017610.7 NP_001257457.1|NP_001257458.1|NP_060080.6 Q6ZNA4 RN111_HUMAN ring finger protein 111 98 multicellular organismal development|positive regulation of transcription, DNA-dependent cytoplasm|nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all cancers(107;0.194) GCAAAAGCCAGCAGGCTGGCC 0.423000 22 85 0 0 1 0 0 TRIM42 287015 broad.mit.edu 37 3 140407245 140407245 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:140407245A>G ENST00000286349.3 + 3 1912 c.1721A>G c.(1720-1722)tAc>tGc p.Y574C NM_152616.4 NP_689829.3 Q8IWZ5 TRI42_HUMAN tripartite motif containing 42 574 intracellular zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 CTCTACACCTACTGGAGTGCT 0.577000 8 167 0 0 1 0 0 AKAP9 10142 broad.mit.edu 37 7 91603150 91603150 + Missense_Mutation SNP T T A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:91603150T>A ENST00000359028.2 + 3 435 c.210T>A c.(208-210)gaT>gaA p.D70E AKAP9_ENST00000394564.1_Missense_Mutation_p.D58E|AKAP9_ENST00000358100.2_Missense_Mutation_p.D70E|AKAP9_ENST00000356239.3_Missense_Mutation_p.D58E Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 70 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) TGAATATTGATCAATCACAGT 0.368000 T BRAF papillary thyroid 16 51 0 0 1 0 0 IRX2 153572 broad.mit.edu 37 5 2749646 2749646 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:2749646G>A ENST00000382611.6 - 2 753 c.505C>T c.(505-507)Cgc>Tgc p.R169C IRX2_ENST00000302057.5_Missense_Mutation_p.R169C|IRX2_ENST00000502957.1_5'UTR NM_001134222.1 NP_001127694.1 Q9BZI1 IRX2_HUMAN iroquois homeobox 2 169 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.R169C(1) breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2) 26 GBM - Glioblastoma multiforme(108;0.204) AGGCGCCGGCGCGCGTTGGCG 0.597000 34 127 0 0 1 0 0 FGF12 2257 broad.mit.edu 37 3 192078265 192078265 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:192078265G>A ENST00000454309.2 - 2 1087 c.262C>T c.(262-264)Cac>Tac p.H88Y FGF12_ENST00000430714.1_Intron|FGF12_ENST00000264730.3_Missense_Mutation_p.H26Y|FGF12_ENST00000450716.1_Missense_Mutation_p.H26Y|FGF12_ENST00000445105.1_Missense_Mutation_p.H26Y NM_021032.4 NP_066360.1 P61328 FGF12_HUMAN fibroblast growth factor 12 88 cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction extracellular space|nucleus growth factor activity|heparin binding endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 30 all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247) Lung NSC(153;0.21) LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06) GBM - Glioblastoma multiforme(46;0.00032) CCATCTGGGTGCATCTGCAGG 0.408000 6 91 0 0 1 0 0 AGXT2 64902 broad.mit.edu 37 5 35035325 35035325 + Splice_Site SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:35035325A>G ENST00000231420.6 - 5 782 c.e5+1 NM_031900.3 NP_114106.1 Q9BYV1 AGT2_HUMAN alanine--glyoxylate aminotransferase 2 glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process mitochondrial matrix (R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 41 all_lung(31;4.52e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) GBM - Glioblastoma multiforme(108;0.181) Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119) AGTTGTGATTACCTGAAAGAA 0.443000 26 116 0 0 1 0 0 ZC3H12C 85463 broad.mit.edu 37 11 110023726 110023726 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:110023726A>G ENST00000453089.2 + 2 1644 c.763A>G c.(763-765)Aca>Gca p.T255A ZC3H12C_ENST00000528673.1_Missense_Mutation_p.T287A|ZC3H12C_ENST00000278590.3_Missense_Mutation_p.T286A Q9C0D7 ZC12C_HUMAN zinc finger CCCH-type containing 12C 286 endonuclease activity|nucleic acid binding|zinc ion binding endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279) CAAAGACATTACAGTTTTTGT 0.428000 9 27 0 0 1 0 0 AGRN 375790 broad.mit.edu 37 1 983037 983037 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:983037C>T ENST00000379370.2 + 21 3651 c.3601C>T c.(3601-3603)Cgc>Tgc p.R1201C NM_198576.3 NP_940978.2 O00468 AGRIN_HUMAN agrin 1201 SEA. axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering basal lamina laminin binding|structural constituent of cytoskeleton breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 42 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201) CAAATCCGTCCGCGCCATTGT 0.617000 22 82 0 0 1 0 0 MBD6 114785 broad.mit.edu 37 12 57920551 57920551 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:57920551G>A ENST00000355673.3 + 7 1979 c.1623G>A c.(1621-1623)ttG>ttA p.L541L MBD6_ENST00000431731.2_Silent_p.L541L NM_052897.3 NP_443129.3 Q96DN6 MBD6_HUMAN methyl-CpG binding domain protein 6 541 Pro-rich. chromosome|nucleus chromatin binding|DNA binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1) 31 TTGGGGCCTTGCCTCTCCCTC 0.627000 27 86 0 0 1 0 0 G3BP1 10146 broad.mit.edu 37 5 151179896 151179896 + Missense_Mutation SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:151179896A>T ENST00000394123.3 + 10 1218 c.1073A>T c.(1072-1074)gAt>gTt p.D358V G3BP1_ENST00000356245.3_Missense_Mutation_p.D358V|G3BP1_ENST00000543466.1_Missense_Mutation_p.D176V Q13283 G3BP1_HUMAN GTPase activating protein (SH3 domain) binding protein 1 358 RRM. Ras protein signal transduction|transport cytosol|nucleus|plasma membrane ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2) 29 all_hematologic(541;0.0338)|Medulloblastoma(196;0.091) Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) GAGCTTAAAGATTTCTTTCAA 0.403000 19 52 0 0 1 0 0 OLFM3 118427 broad.mit.edu 37 1 102270375 102270375 + Missense_Mutation SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:102270375G>T ENST00000370103.4 - 6 1009 c.796C>A c.(796-798)Ctt>Att p.L266I OLFM3_ENST00000338858.5_Missense_Mutation_p.L286I|OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000536598.1_3'UTR NM_058170.2 NP_477518.2 Q96PB7 NOE3_HUMAN olfactomedin 3 286 Olfactomedin-like. extracellular region breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2) 43 all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189) all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145) TTGAAAGGAAGGTTGTATGTC 0.368000 31 76 3.69857e-22 3.90823e-22 1 1 0 ZNF396 252884 broad.mit.edu 37 18 32949530 32949530 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr18:32949530A>G ENST00000306346.1 - 4 788 c.657T>C c.(655-657)caT>caC p.H219H ZNF396_ENST00000589332.1_Silent_p.H219H NM_145756.2 NP_665699.1 Q96N95 ZN396_HUMAN zinc finger protein 396 219 viral reproduction cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1) 7 AGCCATTCATATGAAGGATAT 0.368000 37 101 0 0 1 0 0 CCDC97 90324 broad.mit.edu 37 19 41828524 41828524 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:41828524C>T ENST00000269967.3 + 5 1058 c.936C>T c.(934-936)ttC>ttT p.F312F NM_052848.1 NP_443080.1 Q96F63 CCD97_HUMAN coiled-coil domain containing 97 312 biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6) 17 ACCCCGACTTCGACAACCTCG 0.617000 55 122 0 0 1 0 0 TGS1 96764 broad.mit.edu 37 8 56711540 56711540 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:56711540A>G ENST00000260129.5 + 8 2087 c.1610A>G c.(1609-1611)cAt>cGt p.H537R NM_024831.6 NP_079107.6 Q96RS0 TGS1_HUMAN trimethylguanosine synthase 1 537 cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent Cajal body|cytosol RNA trimethylguanosine synthase activity breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147) Epithelial(17;0.00027)|all cancers(17;0.00251) TCATCTTCTCATGACAATGTG 0.383000 25 72 0 0 1 0 0 CEPT1 10390 broad.mit.edu 37 1 111702064 111702064 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:111702064T>C ENST00000545121.1 + 3 610 c.402T>C c.(400-402)gcT>gcC p.A134A CEPT1_ENST00000357172.4_Silent_p.A134A NM_001007794.1 NP_001007795.1 Q9Y6K0 CEPT1_HUMAN choline/ethanolamine phosphotransferase 1 134 endoplasmic reticulum membrane|integral to membrane|nuclear membrane diacylglycerol cholinephosphotransferase activity|ethanolaminephosphotransferase activity|metal ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1) 8 all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359) Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141) Choline(DB00122) CTTTGGATGCTATTGATGGGA 0.398000 23 112 0 0 1 0 0 DCAF4 26094 broad.mit.edu 37 14 73412598 73412598 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:73412598A>G ENST00000553457.1 + 6 531 c.241A>G c.(241-243)Acc>Gcc p.T81A DCAF4_ENST00000394234.2_Missense_Mutation_p.T81A|DCAF4_ENST00000509153.1_Missense_Mutation_p.T120A|DCAF4_ENST00000358377.2_Missense_Mutation_p.T181A|DCAF4_ENST00000353777.3_Missense_Mutation_p.T120A|DCAF4_ENST00000555042.1_Missense_Mutation_p.T181A Q8WV16 DCAF4_HUMAN DDB1 and CUL4 associated factor 4 181 CUL4 RING ubiquitin ligase complex NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1) 22 CCAGGCAGATACCAACAGTGA 0.577000 109 413 0 0 1 0 0 CACNA1G 8913 broad.mit.edu 37 17 48692731 48692731 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:48692731G>A ENST00000352832.5 + 25 5039 c.4667G>A c.(4666-4668)tGc>tAc p.C1556Y CACNA1G_ENST00000503485.1_Missense_Mutation_p.C1556Y|CACNA1G_ENST00000354983.4_Missense_Mutation_p.C1556Y|CACNA1G_ENST00000359106.5_Missense_Mutation_p.C1590Y|CACNA1G_ENST00000515411.1_Missense_Mutation_p.C1572Y|CACNA1G_ENST00000514181.1_Missense_Mutation_p.C1572Y|CACNA1G_ENST00000505165.1_Missense_Mutation_p.C1590Y|CACNA1G_ENST00000514079.1_Missense_Mutation_p.C1597Y|CACNA1G_ENST00000510366.1_Missense_Mutation_p.C1538Y|CACNA1G_ENST00000513964.1_Missense_Mutation_p.C1545Y|CACNA1G_ENST00000515165.1_Missense_Mutation_p.C1590Y|CACNA1G_ENST00000515765.1_Missense_Mutation_p.C1579Y|CACNA1G_ENST00000514717.1_Missense_Mutation_p.C1533Y|CACNA1G_ENST00000442258.2_Missense_Mutation_p.C1549Y|CACNA1G_ENST00000507510.2_Missense_Mutation_p.C1590Y|CACNA1G_ENST00000502264.1_Missense_Mutation_p.C1567Y|CACNA1G_ENST00000507609.1_Missense_Mutation_p.C1590Y|CACNA1G_ENST00000507336.1_Missense_Mutation_p.C1579Y|CACNA1G_ENST00000510115.1_Missense_Mutation_p.C1556Y|CACNA1G_ENST00000507896.1_Missense_Mutation_p.C1579Y|CACNA1G_ENST00000358244.5_Missense_Mutation_p.C1556Y|CACNA1G_ENST00000513689.2_Missense_Mutation_p.C1545Y|CACNA1G_ENST00000429973.2_Missense_Mutation_p.C1572Y|CACNA1G_ENST00000512389.1_Missense_Mutation_p.C1579Y|CACNA1G_ENST00000360761.4_Missense_Mutation_p.C1567Y NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2 NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1 O43497 CAC1G_HUMAN calcium channel, voltage-dependent, T type, alpha 1G subunit 1590 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) GAAGCCCAGTGCAAACCTTAC 0.632000 18 53 0 0 1 0 0 LYST 1130 broad.mit.edu 37 1 235866193 235866193 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:235866193T>C ENST00000389794.3 - 45 10402 c.10228A>G c.(10228-10230)Act>Gct p.T3410A LYST_ENST00000389793.2_Missense_Mutation_p.T3410A|LYST_ENST00000473037.1_5'UTR Q99698 LYST_HUMAN lysosomal trafficking regulator 3410 BEACH. defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) TGACGGGGAGTCTGCCCGTAG 0.502000 60 220 0 0 1 0 0 LARP6 55323 broad.mit.edu 37 15 71125077 71125077 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:71125077C>T ENST00000299213.8 - 3 860 c.790G>A c.(790-792)Gag>Aag p.E264K NM_018357.2 NP_060827.2 Q9BRS8 LARP6_HUMAN La ribonucleoprotein domain family, member 6 264 RNA processing Golgi apparatus|nucleus|ribonucleoprotein complex nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 19 TCCACCTCCTCGAACTCCACG 0.562000 17 56 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11872631 11872631 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:11872631A>G ENST00000262442.3 + 69 13316 c.13248A>G c.(13246-13248)acA>acG p.T4416T DNAH9_ENST00000454412.2_Silent_p.T4340T|RP11-1096G20.5_ENST00000580270.1_RNA|DNAH9_ENST00000396001.2_Silent_p.T728T NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 4416 cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) GGATCATTACAGAGGCAAAGC 0.522000 29 96 0 0 1 0 0 CKAP5 9793 broad.mit.edu 37 11 46837797 46837797 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:46837797T>C ENST00000529230.1 - 4 456 c.410A>G c.(409-411)aAt>aGt p.N137S CKAP5_ENST00000312055.5_Missense_Mutation_p.N137S|CKAP5_ENST00000415402.1_Missense_Mutation_p.N137S|CKAP5_ENST00000354558.3_Missense_Mutation_p.N137S Q14008 CKAP5_HUMAN cytoskeleton associated protein 5 137 cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization centrosome|cytosol protein binding breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 43 GATCTTGGGATTCTTATTGTC 0.428000 9 157 0 0 1 0 0 LRRC8E 80131 broad.mit.edu 37 19 7964151 7964151 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:7964151C>T ENST00000306708.6 + 3 845 c.744C>T c.(742-744)ggC>ggT p.G248G AC010336.1_ENST00000539278.1_3'UTR NM_001268284.1|NM_001268285.1|NM_025061.4 NP_001255213.1|NP_001255214.1|NP_079337.2 Q6NSJ5 LRC8E_HUMAN leucine rich repeat containing 8 family, member E 248 integral to membrane breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10) 35 TGGAAGAGGGCGACATCCTGT 0.527000 19 47 0 0 1 0 0 DICER1 23405 broad.mit.edu 37 14 95595892 95595892 + Missense_Mutation SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:95595892C>A ENST00000526495.1 - 8 942 c.651G>T c.(649-651)gaG>gaT p.E217D DICER1_ENST00000343455.3_Missense_Mutation_p.E217D|DICER1_ENST00000541352.1_Missense_Mutation_p.E217D|DICER1_ENST00000393063.1_Missense_Mutation_p.E217D|DICER1_ENST00000527414.1_Missense_Mutation_p.E217D Q9UPY3 DICER_HUMAN dicer 1, ribonuclease type III 217 Helicase ATP-binding. negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference cytosol|RNA-induced silencing complex ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3) 75 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) CTTCCAATTCCTCTGGATCAC 0.378000 """Mis F, N""" """sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma""" pleuropulmonary blastoma Familial Multinodular Goiter ;DICER 1 syndrome 18 38 4.75885e-15 4.98425e-15 1 1 0 MSANTD2 79684 broad.mit.edu 37 11 124637135 124637135 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:124637135G>A ENST00000526629.1 - 3 2374 c.927C>T c.(925-927)tcC>tcT p.S309S MSANTD2_ENST00000374979.3_Silent_p.S539S|MSANTD2_ENST00000239614.4_Silent_p.S487S Q6P1R3 CK061_HUMAN Myb/SANT-like DNA-binding domain containing 2 539 AAGAGCCTGCGGAAAGAAAAT 0.413000 41 105 0 0 1 0 0 GRM8 2918 broad.mit.edu 37 7 126173817 126173817 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:126173817C>T ENST00000339582.2 - 9 2427 c.1619G>A c.(1618-1620)cGc>cAc p.R540H GRM8_ENST00000358373.3_Missense_Mutation_p.R540H|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Missense_Mutation_p.R540H O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 540 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) ACCTTCACAGCGTTCACAGTG 0.562000 HNSCC(24;0.065) 23 103 0 0 1 0 0 ATE1 11101 broad.mit.edu 37 10 123658396 123658396 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:123658396G>A ENST00000369043.3 - 7 988 c.902C>T c.(901-903)gCc>gTc p.A301V ATE1_ENST00000543447.1_Intron|ATE1_ENST00000369040.3_Missense_Mutation_p.A205V|ATE1_ENST00000481784.1_Intron|ATE1_ENST00000224652.6_Intron|ATE1_ENST00000540606.1_Missense_Mutation_p.A294V|ATE1_ENST00000535655.1_Intron NM_007041.2 NP_008972.2 O95260 ATE1_HUMAN arginyltransferase 1 301 protein arginylation cytoplasm|nucleus acyltransferase activity|arginyltransferase activity endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212) CTGGTGTATGGCCACTTGATA 0.428000 25 81 0 0 1 0 0 DICER1 23405 broad.mit.edu 37 14 95590933 95590933 + Missense_Mutation SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:95590933C>A ENST00000526495.1 - 10 1267 c.976G>T c.(976-978)Gta>Tta p.V326L DICER1_ENST00000343455.3_Missense_Mutation_p.V326L|DICER1_ENST00000541352.1_Missense_Mutation_p.V326L|DICER1_ENST00000393063.1_Missense_Mutation_p.V326L|DICER1_ENST00000527414.1_Missense_Mutation_p.V326L Q9UPY3 DICER_HUMAN dicer 1, ribonuclease type III 326 Required for interaction with PRKRA and TARBP2. negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference cytosol|RNA-induced silencing complex ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3) 75 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) AGTTCTCTTACCATCATTCCA 0.378000 """Mis F, N""" """sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma""" pleuropulmonary blastoma Familial Multinodular Goiter ;DICER 1 syndrome 9 101 4.68919e-08 4.83164e-08 1 1 0 TLN2 83660 broad.mit.edu 37 15 63125774 63125774 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:63125774C>T ENST00000561311.1 + 54 7304 c.7074C>T c.(7072-7074)agC>agT p.S2358S RP11-1069G10.1_ENST00000558888.1_RNA|TLN2_ENST00000306829.6_Silent_p.S2358S Q9Y4G6 TLN2_HUMAN talin 2 2358 I/LWEQ. cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5) 99 CTGCCACAAGCGCCCTGGTCA 0.537000 31 125 0 0 1 0 0 IL4R 3566 broad.mit.edu 37 16 27367196 27367196 + Silent SNP C C T rs140725309 byFrequency TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:27367196C>T ENST00000395762.2 + 8 997 c.738C>T c.(736-738)gcC>gcT p.A246A IL4R_ENST00000380922.3_Silent_p.A231A|IL4R_ENST00000543915.2_Silent_p.A246A|IL4R_ENST00000565915.1_3'UTR|IL4R_ENST00000170630.2_Silent_p.A246A NM_000418.3 NP_000409.1 P24394 IL4RA_HUMAN interleukin 4 receptor 246 immune response|production of molecular mediator involved in inflammatory response integral to plasma membrane identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity p.A246A(1) breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 33 TCATCCTGGCCGTCTGCCTGT 0.622000 27 109 0 0 1 0 0 ISL2 64843 broad.mit.edu 37 15 76632620 76632620 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:76632620C>T ENST00000290759.4 + 4 675 c.515C>T c.(514-516)gCt>gTt p.A172V RP11-685G9.2_ENST00000559539.1_RNA NM_145805.1 NP_665804.1 Q96A47 ISL2_HUMAN ISL LIM homeobox 2 172 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|kidney(1)|lung(2)|ovary(1)|skin(1) 6 CTGGCAGACGCTGGGTCGGGC 0.716000 5 17 0 0 1 0 0 TMPO 7112 broad.mit.edu 37 12 98941405 98941405 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:98941405T>C ENST00000556029.1 + 9 1490 c.1134T>C c.(1132-1134)agT>agC p.S378S TMPO_ENST00000343315.5_Silent_p.S338S|TMPO_ENST00000393053.2_Silent_p.S269S|TMPO_ENST00000548223.1_3'UTR NM_001032283.2 NP_001027454.1 P42167 LAP2B_HUMAN thymopoietin 378 Nucleoplasmic (Potential). integral to membrane|nuclear inner membrane DNA binding|lamin binding breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 TAGAACTCAGTGATTTCAGGA 0.428000 9 93 0 0 1 0 0 FBXO11 80204 broad.mit.edu 37 2 48040949 48040949 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:48040949T>C ENST00000403359.3 - 17 2136 c.2064A>G c.(2062-2064)ggA>ggG p.G688G FBXO11_ENST00000434523.2_Silent_p.G112G|FBXO11_ENST00000402508.1_Silent_p.G604G|FBXO11_ENST00000316377.4_Silent_p.G604G NM_001190274.1 NP_001177203.1 Q86XK2 FBX11_HUMAN F-box protein 11 688 ubiquitin-dependent protein catabolic process cytoplasm|nucleolus|ubiquitin ligase complex protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding p.0?(2) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 26 Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) AAACTAGAATTCCACCATTCT 0.393000 """Mis, F, D""" DLBCL 4 56 0 0 1 0 0 OR2M5 127059 broad.mit.edu 37 1 248308700 248308700 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:248308700A>G ENST00000366476.1 + 1 251 c.251A>G c.(250-252)aAc>aGc p.N84S NM_001004690.1 NP_001004690.1 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, member 5 84 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 49 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0388) ATGGCCTTCAACTACTTGTCT 0.498000 10 413 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110457746 110457746 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:110457746G>A ENST00000378402.5 + 38 5752 c.5648G>A c.(5647-5649)cGc>cAc p.R1883H NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 1883 IPT/TIG 11. immune response cytosol|extracellular space|integral to membrane receptor activity p.R1883H(1)|p.R1885H(1) NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) GTCTACTGCCGCACTCCCGCT 0.438000 HNSCC(38;0.096) 5 26 0 0 1 0 0 EIF1AD 84285 broad.mit.edu 37 11 65766125 65766125 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:65766125T>C ENST00000312234.2 - 6 777 c.443A>G c.(442-444)aAc>aGc p.N148S EIF1AD_ENST00000525767.1_Missense_Mutation_p.N96S|EIF1AD_ENST00000527249.1_Missense_Mutation_p.N148S|EIF1AD_ENST00000533544.1_Missense_Mutation_p.N148S|EIF1AD_ENST00000526451.1_Missense_Mutation_p.N148S NM_001242481.1|NM_001242482.1|NM_001242483.1|NM_032325.3 NP_001229410.1|NP_001229411.1|NP_001229412.1|NP_115701.2 Q8N9N8 EIF1A_HUMAN eukaryotic translation initiation factor 1A domain containing 148 nucleus translation initiation factor activity lung(5) 5 CTGTCTGCGGTTTGTGTTAAC 0.532000 5 281 0 0 1 0 0 PCDH7 5099 broad.mit.edu 37 4 30921832 30921832 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:30921832T>C ENST00000543491.1 + 2 3232 c.3232T>C c.(3232-3234)Tca>Cca p.S1078P PCDH7_ENST00000509925.1_3'UTR O60245 PCDH7_HUMAN protocadherin 7 0 homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 55 ACATCAGGGGTCACTGCAGAG 0.502000 8 86 0 0 1 0 0 GOT2 2806 broad.mit.edu 37 16 58752199 58752199 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:58752199T>C ENST00000245206.5 - 6 731 c.603A>G c.(601-603)atA>atG p.I201M GOT2_ENST00000564400.1_5'UTR|GOT2_ENST00000434819.2_Missense_Mutation_p.I158M NM_002080.2 NP_002071.2 P00505 AATM_HUMAN glutamic-oxaloacetic transaminase 2, mitochondrial 201 aspartate catabolic process|fatty acid transport|gluconeogenesis|response to ethanol mitochondrial matrix|plasma membrane L-aspartate:2-oxoglutarate aminotransferase activity|protein binding|pyridoxal phosphate binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1) 22 L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) TCTGCTCTGGTATTTTCTAAA 0.463000 11 80 0 0 1 0 0 IGKV2D-24 28885 broad.mit.edu 37 2 90044343 90044343 + RNA SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:90044343T>C ENST00000462693.1 + 0 294 ACAGATTCAGTGGCAGTGGGG 0.507000 7 302 0 0 1 0 0 SCG2 7857 broad.mit.edu 37 2 224462507 224462507 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:224462507G>A ENST00000305409.2 - 2 1726 c.1494C>T c.(1492-1494)aaC>aaT p.N498N NM_003469.4 NP_003460.2 P13521 SCG2_HUMAN secretogranin II 498 angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion extracellular space|stored secretory granule chemoattractant activity|cytokine activity NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 44 Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271) Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008) GATCCTTGTCGTTCAGGTTTT 0.453000 31 121 0 0 1 0 0 TLN1 7094 broad.mit.edu 37 9 35706785 35706785 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:35706785G>A ENST00000314888.9 - 38 5421 c.5068C>T c.(5068-5070)Cgt>Tgt p.R1690C TLN1_ENST00000464379.1_Intron|TLN1_ENST00000540444.1_Splice_Site_p.L1690_splice NM_006289.3 NP_006280.3 Q9Y490 TLN1_HUMAN talin 1 1690 Interaction with SYNM. axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding p.R1690S(1) NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6) 85 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) ATTCCCTCACGGGGAGCAAGC 0.532000 44 123 0 0 1 0 0 ZNF764 92595 broad.mit.edu 37 16 30566842 30566842 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:30566842C>T ENST00000395091.2 - 3 1212 c.897G>A c.(895-897)tcG>tcA p.S299S ZNF764_ENST00000252797.2_Silent_p.S300S|AC002310.13_ENST00000568114.1_Intron Q96H86 ZN764_HUMAN zinc finger protein 764 300 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1) 7 GCCGCAGGTCCGAGGGGTAGG 0.726000 9 21 0 0 1 0 0 TAS2R50 259296 broad.mit.edu 37 12 11138911 11138911 + Nonsense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:11138911C>T ENST00000506868.1 - 1 600 c.549G>A c.(547-549)tgG>tgA p.W183* PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron NM_176890.2 NP_795371.2 P59544 T2R50_HUMAN taste receptor, type 2, member 50 183 sensory perception of taste integral to membrane G-protein coupled receptor activity haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1) 17 GTATGAAGCTCCATAGGGTAG 0.403000 42 152 0 0 1 0 0 NLE1 54475 broad.mit.edu 37 17 33460199 33460199 + Missense_Mutation SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:33460199C>A ENST00000586869.1 - 11 1579 c.560G>T c.(559-561)tGc>tTc p.C187F NLE1_ENST00000442241.4_Missense_Mutation_p.C479F|NLE1_ENST00000360831.5_Missense_Mutation_p.C437F Q9NVX2 NLE1_HUMAN notchless homolog 1 (Drosophila) 479 nucleolus NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2) 22 Ovarian(249;0.17) CATCCGGAGGCATTTGTCCTT 0.552000 4 124 0.00116845 0.00118101 1 1 0 MAPKAPK3 7867 broad.mit.edu 37 3 50677902 50677902 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:50677902C>T ENST00000446044.1 + 5 921 c.325C>T c.(325-327)Cat>Tat p.H109Y MAPKAPK3_ENST00000357955.2_Missense_Mutation_p.H109Y NM_001243926.1 NP_001230855.1 Q16644 MAPK3_HUMAN mitogen-activated protein kinase-activated protein kinase 3 109 Protein kinase. activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|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 serine/threonine kinase activity central_nervous_system(1)|ovary(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223) GAACATGCACCATGGCAAGCG 0.607000 5 295 0 0 1 0 0 AIF1 199 broad.mit.edu 37 6 31584617 31584617 + Silent SNP G G A rs148972430 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:31584617G>A ENST00000376059.3 + 6 530 c.384G>A c.(382-384)gcG>gcA p.A128A AIF1_ENST00000376049.4_Silent_p.A74A NM_001623.3 NP_001614.3 P55008 AIF1_HUMAN allograft inflammatory factor 1 128 actin filament bundle assembly|cell cycle arrest|inflammatory response|negative regulation of cell proliferation nucleus|ruffle membrane actin filament binding|calcium ion binding lung(2)|ovary(1) 3 AGGAAAAAGCGAGAGAAAAGG 0.488000 15 69 0 0 1 0 0 PCDHB16 57717 broad.mit.edu 37 5 140563545 140563545 + Missense_Mutation SNP G G A rs143024827 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:140563545G>A ENST00000361016.2 + 1 2566 c.1411G>A c.(1411-1413)Ggc>Agc p.G471S NM_020957.1 NP_066008.1 Q9NRJ7 PCDBG_HUMAN 471 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1) 69 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCTGCACATCGGCAGCGTCAG 0.622000 4 144 0 0 1 0 0 C20orf141 128653 broad.mit.edu 37 20 2796271 2796271 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:2796271T>C ENST00000380589.4 + 2 522 c.348T>C c.(346-348)gcT>gcC p.A116A C20orf141_ENST00000603872.1_Silent_p.A116A|TMEM239_ENST00000554164.1_Intron|TMEM239_ENST00000380593.4_Intron NM_080739.2 NP_542777.1 Q9NUB4 CT141_HUMAN chromosome 20 open reading frame 141 116 Leu-rich. integral to membrane endometrium(4)|kidney(1)|large_intestine(1)|lung(3)|prostate(1) 10 AGCAGGAGGCTCTACTCCTGC 0.627000 12 43 0 0 1 0 0 RARA 5914 broad.mit.edu 37 17 38511548 38511548 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:38511548A>G ENST00000254066.5 + 8 1501 c.1046A>G c.(1045-1047)gAc>gGc p.D349G RARA_ENST00000394089.2_Missense_Mutation_p.D349G|RARA_ENST00000394081.3_Missense_Mutation_p.D344G|RARA_ENST00000394086.3_Missense_Mutation_p.D365G|RARA_ENST00000425707.3_Missense_Mutation_p.D252G|RARA_ENST00000420042.1_3'UTR NM_000964.3 NP_000955.1 P10276 RARA_HUMAN retinoic acid receptor, alpha 349 Ligand-binding. apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus cytoplasm|nucleoplasm chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2) 16 Breast(137;0.00328) STAD - Stomach adenocarcinoma(5;0.00143) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799) GACCGGGTGGACATGCTGCAG 0.652000 T """PML, ZNF145, TIF1, NUMA1, NPM1""" APL OREG0024394 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 10 0 0 1 0 0 MAST4 375449 broad.mit.edu 37 5 66255090 66255090 + Silent SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:66255090G>T ENST00000405643.1 + 1 393 c.15G>T c.(13-15)cgG>cgT p.R5R MAST4_ENST00000403625.2_Intron|MAST4_ENST00000406039.1_Intron|MAST4_ENST00000407621.1_Silent_p.R5R|MAST4_ENST00000490016.2_Intron|MAST4_ENST00000404260.3_Intron|MAST4_ENST00000406374.1_Intron|MAST4_ENST00000403666.1_Intron O15021 MAST4_HUMAN microtubule associated serine/threonine kinase family member 4 1094 cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) AAGCCCAGCGGGAAAGGCTAC 0.483000 15 56 6.31663e-08 6.50258e-08 1 1 0 OSBPL11 114885 broad.mit.edu 37 3 125249420 125249420 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:125249420T>C ENST00000296220.5 - 13 2472 c.2183A>G c.(2182-2184)gAt>gGt p.D728G NM_022776.4 NP_073613.2 Q9BXB4 OSB11_HUMAN oxysterol binding protein-like 11 728 lipid transport lipid binding NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1) 27 AACCCAGCCATCTCCCTGAAA 0.348000 9 19 0 0 1 0 0 ADAMDEC1 27299 broad.mit.edu 37 8 24254870 24254870 + Missense_Mutation SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:24254870C>A ENST00000538205.1 + 7 838 c.291C>A c.(289-291)aaC>aaA p.N97K RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.N97K|RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000256412.4_Missense_Mutation_p.N176K NM_001145271.1 NP_001138743.1 O15204 ADEC1_HUMAN ADAM-like, decysin 1 176 integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis extracellular region|integral to membrane integrin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1) 9 Prostate(55;0.0181) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168) TTACATCTAACCAGGAGGAAC 0.458000 8 348 0.000157383 0.00015972 1 1 0 C1QTNF4 114900 broad.mit.edu 37 11 47612220 47612220 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:47612220A>G ENST00000302514.3 - 2 659 c.143T>C c.(142-144)gTg>gCg p.V48A NM_031909.2 NP_114115.2 Q9BXJ3 C1QT4_HUMAN C1q and tumor necrosis factor related protein 4 48 C1q 1. extracellular region breast(2)|endometrium(1)|kidney(1)|lung(2) 6 GTCGAAGGTCACCGCCATCTC 0.697000 8 24 0 0 1 0 0 TRIO 7204 broad.mit.edu 37 5 14369559 14369559 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:14369559G>A ENST00000344204.4 + 18 3167 c.3143G>A c.(3142-3144)gGc>gAc p.G1048D TRIO_ENST00000509967.2_Missense_Mutation_p.G999D|TRIO_ENST00000537187.1_Missense_Mutation_p.G1048D NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor 1048 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) GATAAGCTGGGCCCAAACTCT 0.592000 22 73 0 0 1 0 0 SOX9 6662 broad.mit.edu 37 17 70120498 70120498 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:70120498A>G ENST00000245479.2 + 3 1872 c.1500A>G c.(1498-1500)caA>caG p.Q500Q NM_000346.3 NP_000337.1 P48436 SOX9_HUMAN SRY (sex determining region Y)-box 9 500 cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction nucleus|protein complex core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2) 26 Colorectal(1115;0.245) STAD - Stomach adenocarcinoma(260;0.119) ACTGGGAACAACCCGTCTACA 0.597000 28 86 0 0 1 0 0 ZNF761 388561 broad.mit.edu 37 19 53958820 53958820 + RNA SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:53958820T>C ENST00000454407.1 + 0 1512 Q86XN6 ZN761_HUMAN zinc finger protein 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(134;0.00786) GAGAGAAACCTTACAAGTGTA 0.408000 7 271 0 0 1 0 0 CACNA1B 774 broad.mit.edu 37 9 140901252 140901252 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:140901252T>C ENST00000371372.1 + 16 2153 c.2008T>C c.(2008-2010)Tat>Cat p.Y670H CACNA1B_ENST00000371357.1_Missense_Mutation_p.Y671H|CACNA1B_ENST00000277551.2_Missense_Mutation_p.Y670H|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371363.1_Missense_Mutation_p.Y670H|CACNA1B_ENST00000371355.4_Missense_Mutation_p.Y671H NM_000718.3|NM_001243812.1 NP_000709.1|NP_001230741.1 Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 670 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) TGCAGTGATGTATCACGGGAT 0.567000 4 24 0 0 1 0 0 FER 2241 broad.mit.edu 37 5 108523240 108523240 + Missense_Mutation SNP G G C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:108523240G>C ENST00000281092.4 + 20 2817 c.2433G>C c.(2431-2433)caG>caC p.Q811H FER_ENST00000438717.2_Missense_Mutation_p.Q636H NM_005246.2 NP_005237.2 P16591 FER_HUMAN fer (fps/fes related) tyrosine kinase 811 Protein kinase. intracellular signal transduction|peptidyl-tyrosine phosphorylation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2) 32 all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152) OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174) GTGAACTTCAGAAAGAGCTCA 0.443000 21 67 0 0 1 0 0 ASNSD1 54529 broad.mit.edu 37 2 190531561 190531561 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:190531561C>T ENST00000260952.4 + 4 1116 c.703C>T c.(703-705)Ctg>Ttg p.L235L ASNSD1_ENST00000607062.1_Intron NM_019048.2 NP_061921.1 Q9NWL6 ASND1_HUMAN asparagine synthetase domain containing 1 235 asparagine biosynthetic process|glutamine metabolic process asparagine synthase (glutamine-hydrolyzing) activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3) 25 OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118) TGAAGCCAAACTGTATCTTGA 0.363000 25 104 0 0 1 0 0 PLEC 5339 broad.mit.edu 37 8 145007143 145007143 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:145007143C>T ENST00000322810.4 - 14 2135 c.1966G>A c.(1966-1968)Gac>Aac p.D656N PLEC_ENST00000527096.1_Missense_Mutation_p.D542N|PLEC_ENST00000356346.3_Missense_Mutation_p.D505N|PLEC_ENST00000436759.2_Missense_Mutation_p.D546N|PLEC_ENST00000357649.2_Missense_Mutation_p.D523N|PLEC_ENST00000354589.3_Missense_Mutation_p.D519N|PLEC_ENST00000398774.2_Missense_Mutation_p.D487N|PLEC_ENST00000345136.3_Missense_Mutation_p.D519N|PLEC_ENST00000354958.2_Missense_Mutation_p.D497N NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 656 Globular 1. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 AGAGTGGAGTCCTCCAGCTCG 0.672000 12 33 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32041536 32041536 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:32041536G>A ENST00000375244.3 - 12 4770 c.4569C>T c.(4567-4569)gaC>gaT p.D1523D TNXB_ENST00000375247.2_Silent_p.D1523D P22105 TENX_HUMAN tenascin XB 1610 Fibronectin type-III 7. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 CCTCTCGCTGGTCTGCCGCCA 0.577000 13 24 0 0 1 0 0 NUP43 348995 broad.mit.edu 37 6 150063646 150063646 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:150063646A>G ENST00000340413.2 - 4 458 c.382T>C c.(382-384)Tcc>Ccc p.S128P NUP43_ENST00000460354.2_Missense_Mutation_p.S128P|NUP43_ENST00000367404.4_Missense_Mutation_p.S128P|NUP43_ENST00000367403.3_Missense_Mutation_p.S189P NM_198887.1 NP_942590.1 Q8NFH3 NUP43_HUMAN nucleoporin 43kDa 128 carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex protein binding breast(1)|large_intestine(2)|lung(8)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 18 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101) CTGCTATAGGAAGGACTGCCA 0.463000 26 122 0 0 1 0 0 DSG1 1828 broad.mit.edu 37 18 28935124 28935124 + Missense_Mutation SNP G G A rs145472309 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr18:28935124G>A ENST00000257192.4 + 15 3177 c.2965G>A c.(2965-2967)Ggt>Agt p.G989S DSG1_ENST00000462981.2_Missense_Mutation_p.G348S|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA NM_001942.2 NP_001933.2 Q02413 DSG1_HUMAN desmoglein 1 989 Gly/Ser-rich. calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 76 OV - Ovarian serous cystadenocarcinoma(10;0.00559) TGCTGGGAGCGGTGCCCTGAG 0.597000 9 118 0 0 1 0 0 SEZ6L 23544 broad.mit.edu 37 22 26688852 26688852 + Missense_Mutation SNP C C T rs138721720 byFrequency TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr22:26688852C>T ENST00000529632.2 + 2 771 c.575C>T c.(574-576)gCg>gTg p.A192V SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000360929.3_Missense_Mutation_p.A192V|SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000404234.3_Missense_Mutation_p.A192V|SEZ6L_ENST00000248933.6_Missense_Mutation_p.A192V|SEZ6L_ENST00000343706.4_Missense_Mutation_p.A192V NM_001184774.1|NM_001184775.1|NM_001184777.1 NP_001171703.1|NP_001171704.1|NP_001171706.1 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 192 endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 AAGGAGAGTGCGGTCCCTACA 0.667000 30 138 0 0 1 0 0 MORF4L1 10933 broad.mit.edu 37 15 79186493 79186493 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:79186493G>A ENST00000331268.5 + 11 1044 c.840G>A c.(838-840)caG>caA p.Q280Q MORF4L1_ENST00000558746.1_Silent_p.Q214Q|MORF4L1_ENST00000561171.1_Intron|MORF4L1_ENST00000559345.1_Silent_p.Q153Q|MORF4L1_ENST00000558502.1_Silent_p.Q153Q|MORF4L1_ENST00000426013.2_Silent_p.Q241Q|MORF4L1_ENST00000379535.4_Silent_p.Q266Q NM_206839.2 NP_996670.1 Q9UBU8 MO4L1_HUMAN mortality factor 4 like 1 280 Sufficient for interaction with PHF12. double-strand break repair via homologous recombination|histone deacetylation|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|Sin3 complex protein N-terminus binding breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1) 10 AGAGACCACAGTATGCTGAAA 0.418000 59 124 0 0 1 0 0 ZKSCAN2 342357 broad.mit.edu 37 16 25251415 25251415 + Missense_Mutation SNP C C T rs146263630 byFrequency TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:25251415C>T ENST00000328086.7 - 7 3429 c.2626G>A c.(2626-2628)Gcc>Acc p.A876T NM_001012981.4 NP_001012999.3 Q63HK3 ZKSC2_HUMAN zinc finger with KRAB and SCAN domains 2 876 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 36 GBM - Glioblastoma multiforme(48;0.0378) CTCCGGTGGGCGCTGAAATGA 0.453000 26 73 0 0 1 0 0 PRDM10 56980 broad.mit.edu 37 11 129787023 129787023 + Splice_Site SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:129787023T>C ENST00000358825.5 - 16 2567 c.2337_splice c.e16+1 p.K779_splice PRDM10_ENST00000528746.1_Splice_Site_p.K749_splice|PRDM10_ENST00000360871.3_Splice_Site_p.K775_splice|PRDM10_ENST00000423662.2_Splice_Site_p.K693_splice|PRDM10_ENST00000526082.1_Splice_Site_p.K693_splice|PRDM10_ENST00000304538.6_Splice_Site_p.K689_splice NM_020228.2 NP_064613.2 Q9NQV6 PRD10_HUMAN PR domain containing 10 779 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2) 48 all_hematologic(175;0.0537) Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185) CCCTTTTACCTTATCGCAATA 0.378000 3 40 0 0 1 0 0 NAGPA 51172 broad.mit.edu 37 16 5083689 5083689 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:5083689C>T ENST00000312251.3 - 2 146 c.127G>A c.(127-129)Gcg>Acg p.A43T RP11-165E7.1_ENST00000588778.1_RNA|NAGPA_ENST00000381955.3_Missense_Mutation_p.A43T|NAGPA_ENST00000564922.1_5'UTR NM_016256.3 NP_057340.2 Q9UK23 NAGPA_HUMAN N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase 43 carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome Golgi cisterna membrane|integral to membrane N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1) 12 N-Acetyl-D-glucosamine(DB00141) CGCGCGCGCGCGCGTGGATAG 0.761000 8 22 0 0 1 0 0 MYLK2 85366 broad.mit.edu 37 20 30411359 30411359 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:30411359T>C ENST00000375994.2 + 4 1125 c.852T>C c.(850-852)agT>agC p.S284S MYLK2_ENST00000375985.4_Silent_p.S284S Q9H1R3 MYLK2_HUMAN myosin light chain kinase 2 284 cardiac muscle tissue morphogenesis|regulation of muscle filament sliding ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 33 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) GTGAATTCAGTATGAACTCCA 0.617000 OREG0025856 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 58 152 0 0 1 0 0 UGT1A9 54600 broad.mit.edu 37 2 234580711 234580711 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:234580711T>C ENST00000354728.4 + 1 213 c.131T>C c.(130-132)gTg>gCg p.V44A UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron NM_021027.2 NP_066307.1 breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 37 Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128) Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757) ATGAGGTCGGTGGTGGAGAAA 0.537000 4 122 0 0 1 0 0 STAU1 6780 broad.mit.edu 37 20 47741121 47741121 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:47741121C>T ENST00000371828.3 - 7 875 c.388G>A c.(388-390)Gcc>Acc p.A130T STAU1_ENST00000340954.7_Missense_Mutation_p.A124T|STAU1_ENST00000371856.2_Missense_Mutation_p.A205T|STAU1_ENST00000347458.5_Missense_Mutation_p.A124T|STAU1_ENST00000360426.4_Missense_Mutation_p.A124T|STAU1_ENST00000371802.1_Missense_Mutation_p.A130T|STAU1_ENST00000371792.1_Missense_Mutation_p.A124T NM_001037328.1|NM_004602.2 NP_001032405.1|NP_004593.2 O95793 STAU1_HUMAN staufen double-stranded RNA binding protein 1 205 DRBM 1. microtubule associated complex|rough endoplasmic reticulum|stress granule double-stranded RNA binding breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198) CTCTCCCGGGCCACCTGTTTC 0.517000 24 88 0 0 1 0 0 TEP1 7011 broad.mit.edu 37 14 20876530 20876530 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:20876530A>G ENST00000262715.5 - 2 109 c.69T>C c.(67-69)gcT>gcC p.A23A TEP1_ENST00000556935.1_Silent_p.A23A NM_007110.4 NP_009041.2 Q99973 TEP1_HUMAN telomerase-associated protein 1 23 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) CAGGGAGCATAGCCAGGCACC 0.512000 5 118 0 0 1 0 0 ACY1 95 broad.mit.edu 37 3 52022837 52022837 + Missense_Mutation SNP C C T rs121912698 byFrequency TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:52022837C>T ENST00000458031.2 + 16 1558 c.1327C>T c.(1327-1329)Cgc>Tgc p.R443C ACY1_ENST00000494103.1_Missense_Mutation_p.R281C|ACY1_ENST00000404366.2_Missense_Mutation_p.R353C|ABHD14A-ACY1_ENST00000463937.1_Missense_Mutation_p.R454C|ACY1_ENST00000476854.1_Missense_Mutation_p.R288C|ACY1_ENST00000476351.1_Missense_Mutation_p.R318C Q03154 ACY1_HUMAN aminoacylase 1 353 cellular amino acid metabolic process|proteolysis cytosol aminoacylase activity|metal ion binding|metallopeptidase activity breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1) 11 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) L-Aspartic Acid(DB00128) CCGCTATATCCGCGCGGTGAG 0.587000 91 254 0 0 1 0 0 ATN1 1822 broad.mit.edu 37 12 7044749 7044749 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:7044749A>G ENST00000356654.4 + 5 556 c.319A>G c.(319-321)Agc>Ggc p.S107G ATN1_ENST00000396684.2_Missense_Mutation_p.S107G NM_001007026.1 NP_001007027.1 P54259 ATN1_HUMAN atrophin 1 107 cell death|central nervous system development cytoplasm|nucleus protein domain specific binding breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 CGATCTGGATAGCTTGGACGG 0.542000 17 64 0 0 1 0 0 HSF4 3299 broad.mit.edu 37 16 67200484 67200484 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:67200484A>G ENST00000264009.8 + 8 1550 c.585A>G c.(583-585)ccA>ccG p.P195P HSF4_ENST00000584272.1_Silent_p.P195P|HSF4_ENST00000421453.1_Silent_p.P195P|HSF4_ENST00000517867.1_3'UTR|HSF4_ENST00000521374.1_Silent_p.P195P NM_001040667.2 NP_001035757.1 Q9ULV5 HSF4_HUMAN heat shock transcription factor 4 195 Hydrophobic repeat HR-A/B. response to stress nucleus sequence-specific DNA binding transcription factor activity|transcription corepressor activity central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1) 12 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184) TCTTTGGGCCACTTCAGGCGG 0.562000 13 49 0 0 1 0 0 CD97 976 broad.mit.edu 37 19 14515304 14515304 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:14515304A>G ENST00000242786.5 + 13 1639 c.1559A>G c.(1558-1560)aAc>aGc p.N520S CTC-548K16.5_ENST00000590626.1_RNA|CD97_ENST00000357355.3_Missense_Mutation_p.N471S|CD97_ENST00000358600.3_Missense_Mutation_p.N427S NM_078481.3 NP_510966.1 P48960 CD97_HUMAN CD97 molecule 520 GPS. cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway extracellular space|integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 GGCAGCAAGAACGGCAGCACC 0.622000 20 90 0 0 1 0 0 INF2 64423 broad.mit.edu 37 14 105185138 105185138 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:105185138G>A ENST00000330634.7 + 22 3844 c.3701G>A c.(3700-3702)aGg>aAg p.R1234K INF2_ENST00000392634.4_3'UTR|INF2_ENST00000481338.1_3'UTR NM_001031714.3 NP_001026884.3 Q27J81 INF2_HUMAN inverted formin, FH2 and WH2 domain containing 1234 actin cytoskeleton organization endoplasmic reticulum|nucleus|perinuclear region of cytoplasm actin binding|Rho GTPase binding large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172) all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.176) ACAGGCCTCAGGCCCAGGCCC 0.592000 10 22 0 0 1 0 0 PGK2 5232 broad.mit.edu 37 6 49754868 49754868 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:49754868T>C ENST00000304801.3 - 1 185 c.33A>G c.(31-33)aaA>aaG p.K11K NM_138733.4 NP_620061.2 P07205 PGK2_HUMAN phosphoglycerate kinase 2 11 glycolysis cytosol ATP binding|phosphoglycerate kinase activity autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 47 Lung NSC(77;0.0402) TAACATCCAGTTTGTCTAAAG 0.418000 23 70 0 0 1 0 0 FAM186B 84070 broad.mit.edu 37 12 49993649 49993649 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:49993649G>A ENST00000544141.1 - 4 2103 c.1504C>T c.(1504-1506)Cca>Tca p.P502S FAM186B_ENST00000257894.2_Missense_Mutation_p.P592S|FAM186B_ENST00000551047.1_Intron|PRPF40B_ENST00000508736.1_3'UTR Q8IYM0 F186B_HUMAN family with sequence similarity 186, member B 592 protein complex breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 GGCAAGTGTGGCCTCCTGCTT 0.572000 23 79 0 0 1 0 0 SMC2 10592 broad.mit.edu 37 9 106876294 106876294 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:106876294T>C ENST00000286398.7 + 12 1752 c.1464T>C c.(1462-1464)gaT>gaC p.D488D SMC2_ENST00000374787.3_Silent_p.D488D|SMC2_ENST00000374793.3_Silent_p.D488D|SMC2_ENST00000303219.8_Silent_p.D488D NM_001042551.1|NM_001265602.1|NM_006444.2 NP_001036016.1|NP_001252531.1|NP_006435.2 O95347 SMC2_HUMAN structural maintenance of chromosomes 2 488 cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism condensin complex|cytoplasm|nuclear chromosome ATP binding|protein heterodimerization activity breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 48 TGTCTCGTGATATTGGTAGAT 0.338000 4 229 0 0 1 0 0 PANK1 53354 broad.mit.edu 37 10 91404753 91404753 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:91404753T>C ENST00000307534.4 - 1 462 c.307A>G c.(307-309)Aat>Gat p.N103D NM_148977.2 NP_683878.1 Q8TE04 PANK1_HUMAN pantothenate kinase 1 103 coenzyme A biosynthetic process|pantothenate metabolic process cytosol|nucleus ATP binding|pantothenate kinase activity cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2) 11 Bezafibrate(DB01393) GGCTTCCGATTCAGCAGCCGC 0.746000 14 43 0 0 1 0 0 SPRED2 200734 broad.mit.edu 37 2 65561892 65561892 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:65561892A>G ENST00000356388.4 - 3 409 c.220T>C c.(220-222)Tat>Cat p.Y74H SPRED2_ENST00000474228.1_5'UTR|SPRED2_ENST00000443619.2_Missense_Mutation_p.Y71H NM_181784.2 NP_861449.2 Q7Z698 SPRE2_HUMAN sprouty-related, EVH1 domain containing 2 74 WH1. inactivation of MAPK activity|multicellular organismal development transport vesicle membrane stem cell factor receptor binding breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3) 34 TTTCTTACATAGCATTCCAAT 0.438000 4 148 0 0 1 0 0 CEP164 22897 broad.mit.edu 37 11 117280361 117280361 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:117280361G>A ENST00000278935.3 + 30 3923 c.3776G>A c.(3775-3777)cGc>cAc p.R1259H CEP164_ENST00000533706.1_3'UTR NM_014956.4 NP_055771.4 Q9UPV0 CE164_HUMAN centrosomal protein 164kDa 1259 cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis centriole|cytosol|nucleus breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3) 47 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008) CTCACCTCCCGCAAGATCCAC 0.612000 81 219 0 0 1 0 0 PRKRIR 5612 broad.mit.edu 37 11 76063224 76063224 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:76063224A>G ENST00000260045.3 - 5 1075 c.970T>C c.(970-972)Tat>Cat p.Y324H NM_004705.2 NP_004696.2 O43422 P52K_HUMAN protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) 324 negative regulation of cell proliferation|response to stress|signal transduction DNA binding|metal ion binding|protein dimerization activity cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 25 CCACGACAATACTCCATATTT 0.388000 41 114 0 0 1 0 0 SUPT16H 11198 broad.mit.edu 37 14 21826538 21826538 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:21826538T>C ENST00000216297.2 - 20 2688 c.2350A>G c.(2350-2352)Att>Gtt p.I784V NM_007192.3 NP_009123.1 Q9Y5B9 SP16H_HUMAN suppressor of Ty 16 homolog (S. cerevisiae) 784 DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|nucleoplasm GTP binding breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_cancers(95;0.00115) Epithelial(56;1.62e-06)|all cancers(55;1.49e-05) GBM - Glioblastoma multiforme(265;0.0159) ACTTTCTCAATGAAATTTTTA 0.368000 6 72 0 0 1 0 0 PKD2L1 9033 broad.mit.edu 37 10 102054309 102054309 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:102054309C>T ENST00000318222.3 - 9 2024 c.1642G>A c.(1642-1644)Gtc>Atc p.V548I PKD2L1_ENST00000338519.3_Missense_Mutation_p.V473I|PKD2L1_ENST00000353274.3_Missense_Mutation_p.V548I NM_001253837.1|NM_016112.2 NP_001240766.1|NP_057196.2 Q9P0L9 PK2L1_HUMAN polycystic kidney disease 2-like 1 548 signal transduction integral to membrane calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 43 Colorectal(252;0.117) Epithelial(162;6.15e-10)|all cancers(201;5.14e-08) ACGAAGAAGACGAAGAAGACA 0.532000 28 86 0 0 1 0 0 UBAP2 55833 broad.mit.edu 37 9 33933540 33933540 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:33933540T>C ENST00000379238.1 - 18 2173 c.2056A>G c.(2056-2058)Aca>Gca p.T686A UBAP2_ENST00000418786.2_Missense_Mutation_p.T633A|UBAP2_ENST00000360802.1_Missense_Mutation_p.T686A|UBAP2_ENST00000379239.4_Missense_Mutation_p.T419A|UBAP2_ENST00000449054.1_Missense_Mutation_p.T686A|UBAP2_ENST00000539807.1_Missense_Mutation_p.T441A Q5T6F2 UBAP2_HUMAN ubiquitin associated protein 2 686 endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1) 32 LUSC - Lung squamous cell carcinoma(29;0.00575) GBM - Glioblastoma multiforme(74;0.168) TGCTGGGATGTGGACGGCAGA 0.597000 17 47 0 0 1 0 0 CSNK2A2 1459 broad.mit.edu 37 16 58220736 58220736 + Nonsense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:58220736G>A ENST00000262506.3 - 3 424 c.241C>T c.(241-243)Cga>Tga p.R81* CSNK2A2_ENST00000566813.1_5'UTR NM_001896.2 NP_001887.1 P19784 CSK22_HUMAN casein kinase 2, alpha prime polypeptide 81 Protein kinase. axon guidance|Wnt receptor signaling pathway cytosol|nucleus ATP binding|protein N-terminus binding|protein serine/threonine kinase activity central_nervous_system(1) 1 TTAACCTCTCGTTTTATCTTC 0.378000 23 79 0 0 1 0 0 ZNF613 79898 broad.mit.edu 37 19 52448704 52448704 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:52448704A>G ENST00000293471.6 + 6 2247 c.1568A>G c.(1567-1569)cAc>cGc p.H523R ZNF613_ENST00000601794.1_3'UTR|ZNF613_ENST00000391794.4_Missense_Mutation_p.H487R NM_001031721.3 NP_001026891.2 Q6PF04 ZN613_HUMAN zinc finger protein 613 523 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 19 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183) GCTTTCTCCCACTTGTCATGC 0.433000 26 63 0 0 1 0 0 FHOD1 29109 broad.mit.edu 37 16 67263713 67263713 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:67263713C>T ENST00000258201.4 - 21 3642 c.3395G>A c.(3394-3396)cGc>cAc p.R1132H FHOD1_ENST00000567687.1_Missense_Mutation_p.R711H NM_013241.2 NP_037373.2 Q9Y613 FHOD1_HUMAN formin homology 2 domain containing 1 1132 actin cytoskeleton organization cytoplasm|cytoskeleton|nucleus actin binding breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 34 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434) GCGGTTGCCGCGGGAACGCTT 0.562000 49 153 0 0 1 0 0 NLRP6 171389 broad.mit.edu 37 11 285213 285213 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:285213C>T ENST00000534750.1 + 8 2790 c.2585C>T c.(2584-2586)gCt>gTt p.A862V NLRP6_ENST00000312165.5_Missense_Mutation_p.A863V NM_001276700.1 NP_001263629.1 P59044 NALP6_HUMAN NLR family, pyrin domain containing 6 863 cytoplasm ATP binding breast(1)|skin(1)|upper_aerodigestive_tract(2) 4 all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122) GAGCTTCAGGCTGTGAAGAGA 0.612000 3 12 0 0 1 0 0 ETF1 2107 broad.mit.edu 37 5 137848560 137848560 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:137848560C>T ENST00000499810.2 - 6 974 c.526G>A c.(526-528)Gct>Act p.A176T ETF1_ENST00000503014.1_Missense_Mutation_p.A195T|ETF1_ENST00000360541.5_Missense_Mutation_p.A209T P62495 ERF1_HUMAN eukaryotic translation termination factor 1 209 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation|regulation of translational termination cytoplasm protein binding|ribosome binding|translation release factor activity, codon specific breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|urinary_tract(1) 18 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) AGCTGCACAGCAGTCTCTGCT 0.428000 35 90 0 0 1 0 0 TRIP6 7205 broad.mit.edu 37 7 100468203 100468203 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:100468203T>C ENST00000200457.4 + 6 1197 c.837T>C c.(835-837)tgT>tgC p.C279C NM_003302.2 NP_003293.2 Q15654 TRIP6_HUMAN thyroid hormone receptor interactor 6 279 LIM zinc-binding 1. focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent cytoplasm|cytoskeleton|focal adhesion|nucleus identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5) 14 Lung NSC(181;0.041)|all_lung(186;0.0581) CAGGCCAGTGTGGTGGCTGCG 0.612000 7 94 0 0 1 0 0 EPB42 2038 broad.mit.edu 37 15 43502557 43502557 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:43502557G>A ENST00000300215.3 - 5 1177 c.720C>T c.(718-720)caC>caT p.H240H EPB42_ENST00000540029.1_Silent_p.H132H|EPB42_ENST00000441366.2_Silent_p.H210H P16452 EPB42_HUMAN erythrocyte membrane protein band 4.2 210 erythrocyte maturation|peptide cross-linking|regulation of cell shape cytoplasm|cytoskeleton|plasma membrane ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.7e-07) CACGGGCCACGTGCACCGGCT 0.597000 54 120 0 0 1 0 0 TAB2 23118 broad.mit.edu 37 6 149691182 149691182 + Nonsense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:149691182C>T ENST00000367456.1 + 3 626 c.49C>T c.(49-51)Cga>Tga p.R17* TAB2_ENST00000536230.1_Intron|TAB2_ENST00000538427.1_Nonsense_Mutation_p.R17*|TAB2_ENST00000392282.1_Nonsense_Mutation_p.R17*|TAB2_ENST00000286332.5_Nonsense_Mutation_p.R17* Q9NYJ8 TAB2_HUMAN TGF-beta activated kinase 1/MAP3K7 binding protein 2 17 CUE. activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|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|endosome membrane|plasma membrane K63-linked polyubiquitin binding|zinc ion binding breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1) 22 ACATGACCTGCGACAAAAATT 0.393000 8 71 0 0 1 0 0 C16orf45 89927 broad.mit.edu 37 16 15609245 15609245 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:15609245C>T ENST00000300006.4 + 2 549 c.190C>T c.(190-192)Cgg>Tgg p.R64W C16orf45_ENST00000452191.2_Missense_Mutation_p.R47W|C16orf45_ENST00000561692.1_Missense_Mutation_p.R16W|C16orf45_ENST00000566490.1_Missense_Mutation_p.R64W NM_033201.2 NP_149978.1 Q96MC5 CP045_HUMAN chromosome 16 open reading frame 45 64 p.R64fs*6(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1) 11 TCAGCGTCTCCGGGAAGTCTT 0.527000 13 41 0 0 1 0 0 SERPINB5 5268 broad.mit.edu 37 18 61154286 61154286 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr18:61154286C>T ENST00000382771.4 + 3 568 c.276C>T c.(274-276)ctC>ctT p.L92L SERPINB5_ENST00000489441.1_Silent_p.L92L NM_002639.4 NP_002630.2 P36952 SPB5_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 5 92 cellular component movement|regulation of proteolysis cytoplasm|extracellular space protein binding|serine-type endopeptidase inhibitor activity kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1) 12 TCAAGCGGCTCTACGTAGACA 0.348000 16 56 0 0 1 0 0 ZMIZ1 57178 broad.mit.edu 37 10 81053160 81053160 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:81053160A>G ENST00000334512.5 + 12 1552 c.980A>G c.(979-981)aAc>aGc p.N327S ZMIZ1_ENST00000478357.1_3'UTR NM_020338.3 NP_065071.1 Q9ULJ6 ZMIZ1_HUMAN zinc finger, MIZ-type containing 1 327 transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1) 30 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) CAGGCGTATAACAGCCAATTC 0.577000 6 315 0 0 1 0 0 NDUFA1 4694 broad.mit.edu 37 X 119007336 119007336 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chrX:119007336G>A ENST00000371437.4 + 2 597 c.172G>A c.(172-174)Gat>Aat p.D58N NM_004541.3 NP_004532.1 O15239 NDUA1_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa 58 mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity endometrium(1)|kidney(1)|large_intestine(2)|stomach(1) 5 NADH(DB00157) CTCTGGAGTTGATCGTTACTA 0.453000 4 62 0 0 1 0 0 TAP1 6890 broad.mit.edu 37 6 32819972 32819972 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:32819972A>G ENST00000354258.4 - 3 1099 c.938T>C c.(937-939)aTg>aCg p.M313T TAP1_ENST00000425148.2_Missense_Mutation_p.M52T|PSMB9_ENST00000395330.1_Intron NM_000593.5 NP_000584.2 Q03518 TAP1_HUMAN transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) 313 ABC transmembrane type-1. antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity cytosol|plasma membrane|TAP complex ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1) 21 CACGTGGCCCATGGTGTTGTT 0.532000 11 99 0 0 1 0 0 RADIL 55698 broad.mit.edu 37 7 4874654 4874654 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:4874654G>A ENST00000399583.3 - 4 1187 c.1000C>T c.(1000-1002)Cac>Tac p.H334Y RADIL_ENST00000536091.1_Missense_Mutation_p.H334Y|RADIL_ENST00000538469.1_Missense_Mutation_p.H94Y NM_018059.4 NP_060529.4 Q96JH8 RADIL_HUMAN Ras association and DIL domains 334 FHA. cell adhesion|multicellular organismal development|signal transduction protein binding NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15) ACGGTCCTGTGCCCCACCTCG 0.726000 11 22 0 0 1 0 0 RBM12B 389677 broad.mit.edu 37 8 94745947 94745947 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:94745947A>G ENST00000399300.2 - 3 2905 c.2692T>C c.(2692-2694)Ttt>Ctt p.F898L RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000517700.1_Missense_Mutation_p.F778L|RBM12B_ENST00000520961.1_Intron NM_203390.2 NP_976324.2 Q8IXT5 RB12B_HUMAN RNA binding motif protein 12B 898 nucleotide binding|RNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 30 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.0168) TGCTTTCCAAAATCAAACTTG 0.408000 79 375 0 0 1 0 0 CUX1 1523 broad.mit.edu 37 7 101921271 101921271 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:101921271A>G ENST00000437600.4 + 18 1961 c.1609A>G c.(1609-1611)Agc>Ggc p.S537G CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000425244.2_Missense_Mutation_p.S493G|CUX1_ENST00000393824.3_Missense_Mutation_p.S500G|CUX1_ENST00000547394.2_Missense_Mutation_p.S523G|CUX1_ENST00000292538.4_Missense_Mutation_p.S539G NM_181500.2 NP_852477.1 P39880 CUX1_HUMAN cut-like homeobox 1 347 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5) 70 TGAGCTGGACAGCCTGCGCGC 0.667000 5 17 0 0 1 0 0 KLHL34 257240 broad.mit.edu 37 X 21674052 21674052 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chrX:21674052C>T ENST00000379499.2 - 1 2396 c.1855G>A c.(1855-1857)Gca>Aca p.A619T NM_153270.1 NP_695002.1 Q8N239 KLH34_HUMAN kelch-like family member 34 619 cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1) 26 TGCAGCACTGCGCACCGCAGG 0.667000 20 10 0 0 1 0 0 RBM44 375316 broad.mit.edu 37 2 238728941 238728941 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:238728941C>T ENST00000316997.4 + 5 1995 c.1863C>T c.(1861-1863)cgC>cgT p.R621R RBM44_ENST00000409864.1_Silent_p.R621R|RBM44_ENST00000444524.2_3'UTR NM_001080504.2 NP_001073973.2 Q6ZP01 RBM44_HUMAN RNA binding motif protein 44 620 nucleotide binding|RNA binding breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266) TGTGTCGTCGCCATTGTTGTG 0.353000 4 22 0 0 1 0 0 ZBTB39 9880 broad.mit.edu 37 12 57397891 57397891 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:57397891T>C ENST00000300101.2 - 2 896 c.811A>G c.(811-813)Act>Gct p.T271A NM_014830.2 NP_055645.1 O15060 ZBT39_HUMAN zinc finger and BTB domain containing 39 271 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1) 16 TTGGTCCCAGTGGTAATGTCT 0.517000 39 132 0 0 1 0 0 ZBTB24 9841 broad.mit.edu 37 6 109787184 109787184 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:109787184G>A ENST00000230122.3 - 7 2131 c.1964C>T c.(1963-1965)aCa>aTa p.T655I NM_001164313.1|NM_014797.2 NP_001157785.1|NP_055612.2 O43167 ZBT24_HUMAN zinc finger and BTB domain containing 24 655 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 22 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059) GAGCTCCTCTGTTTGCTCTTG 0.542000 21 71 0 0 1 0 0 SPG7 6687 broad.mit.edu 37 16 89603315 89603315 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:89603315C>T ENST00000341316.2 + 10 1474 c.1467C>T c.(1465-1467)caC>caT p.H489H SPG7_ENST00000268704.2_Intron NM_199367.1 NP_955399.1 Q9UQ90 SPG7_HUMAN spastic paraplegia 7 (pure and complicated autosomal recessive) 0 cell death|nervous system development|protein catabolic process|proteolysis integral to membrane|mitochondrial membrane ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1) 20 all_hematologic(23;0.00824)|Colorectal(91;0.102) all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015) GCCTTTTGCACTGAAGATAGA 0.527000 58 213 0 0 1 0 0 MORC2 22880 broad.mit.edu 37 22 31338232 31338232 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr22:31338232A>G ENST00000215862.4 - 8 1630 c.267T>C c.(265-267)aaT>aaC p.N89N MORC2_ENST00000469915.1_5'UTR|MORC2_ENST00000397641.2_Silent_p.N151N NM_014941.1 NP_055756.1 Q9Y6X9 MORC2_HUMAN MORC family CW-type zinc finger 2 151 ATP binding|zinc ion binding breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 21 GGGTCCGAGCATTCCAGGTGG 0.498000 8 213 0 0 1 0 0 GABRR3 200959 broad.mit.edu 37 3 97731363 97731363 + RNA SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:97731363G>A ENST00000472788.1 - 0 356 NM_001105580.2 NP_001099050.1 A8MPY1 GBRR3_HUMAN gamma-aminobutyric acid (GABA) A receptor, rho 3 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity large_intestine(2)|lung(1) 3 GGAAAGGAGAGCCTCTCGTCT 0.393000 28 48 0 0 1 0 0 DIDO1 11083 broad.mit.edu 37 20 61525511 61525511 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:61525511T>C ENST00000266070.4 - 12 2933 c.2608A>G c.(2608-2610)Aaa>Gaa p.K870E DIDO1_ENST00000395335.2_Missense_Mutation_p.K870E|DIDO1_ENST00000395343.1_Missense_Mutation_p.K870E|DIDO1_ENST00000395340.1_Missense_Mutation_p.K870E NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 870 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) TTTTGTTTTTTCGGAGCTGGC 0.493000 61 182 0 0 1 0 0 ARHGEF12 23365 broad.mit.edu 37 11 120300189 120300189 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:120300189T>C ENST00000397843.2 + 9 792 c.626T>C c.(625-627)cTg>cCg p.L209P ARHGEF12_ENST00000356641.3_Missense_Mutation_p.L190P|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.L106P NM_015313.2 NP_056128.1 Q9NZN5 ARHGC_HUMAN Rho guanine nucleotide exchange factor (GEF) 12 209 apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2) 61 Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231) GTAGAAATTCTGAGAAAAATG 0.343000 T MLL AML 20 62 0 0 1 0 0 RFX4 5992 broad.mit.edu 37 12 107155231 107155231 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:107155231C>T ENST00000392842.1 + 18 2606 c.2192C>T c.(2191-2193)aCa>aTa p.T731I RFX4_ENST00000229387.5_Missense_Mutation_p.T637I|RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000357881.4_Missense_Mutation_p.T740I NM_213594.2 NP_998759.1 Q33E94 RFX4_HUMAN regulatory factor X, 4 (influences HLA class II expression) 731 transcription, DNA-dependent nucleus DNA binding NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1) 35 GAGGCCTCTACAGGATGGGCT 0.388000 12 40 0 0 1 0 0 LIG1 3978 broad.mit.edu 37 19 48654515 48654515 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:48654515G>A ENST00000263274.7 - 7 967 c.548C>T c.(547-549)aCg>aTg p.T183M LIG1_ENST00000536218.1_Intron|LIG1_ENST00000427526.2_Missense_Mutation_p.T152M|LIG1_ENST00000599165.1_5'UTR NM_000234.1 NP_000225.1 P18858 DNLI1_HUMAN ligase I, DNA, ATP-dependent 183 anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1) 44 all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329) Bleomycin(DB00290) CTTGGGAGGCGTGGTGGGCTG 0.567000 Nucleotide excision repair (NER) 52 167 0 0 1 0 0 ZMYM3 9203 broad.mit.edu 37 X 70464697 70464697 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chrX:70464697G>A ENST00000373998.1 - 19 3715 c.3018C>T c.(3016-3018)ggC>ggT p.G1006G ZMYM3_ENST00000314425.5_Silent_p.G1018G|ZMYM3_ENST00000373988.1_Silent_p.G1020G|ZMYM3_ENST00000353904.2_Silent_p.G1018G|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373984.3_Silent_p.G1020G NM_001171162.1 NP_001164633.1 Q14202 ZMYM3_HUMAN zinc finger, MYM-type 3 1018 multicellular organismal development nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(35;0.156) GCCCTACCAGGCCACAATCAA 0.458000 6 3 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179439851 179439851 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:179439851C>T ENST00000589042.1 - 326 71232 c.71008G>A c.(71008-71010)Gga>Aga p.G23670R TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G14605R|TTN_ENST00000342992.6_Missense_Mutation_p.G21102R|TTN_ENST00000591111.1_Missense_Mutation_p.G22029R|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G14730R|TTN_ENST00000342175.6_Missense_Mutation_p.G14797R|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 22029 Fibronectin type-III 72. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity 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) ATTTGGTCTCCTTTTTTCCAT 0.423000 10 18 0 0 1 0 0 DOCK4 9732 broad.mit.edu 37 7 111580270 111580270 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:111580270T>C ENST00000428084.1 - 11 1144 c.872A>G c.(871-873)aAt>aGt p.N291S DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000437633.1_Missense_Mutation_p.N291S Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 291 cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4) 72 Acute lymphoblastic leukemia(1;0.0441) ACTACAGGCATTCTTTTTTTC 0.443000 48 142 0 0 1 0 0 PLEKHH2 130271 broad.mit.edu 37 2 43980807 43980807 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:43980807C>T ENST00000282406.4 + 25 3813 c.3703C>T c.(3703-3705)Ctg>Ttg p.L1235L NM_172069.3 NP_742066.2 Q8IVE3 PKHH2_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 1235 FERM. cytoplasm|cytoskeleton|integral to membrane binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) AGAAAAGTTGCTGTTAATGTA 0.323000 4 118 0 0 1 0 0 CREB3L1 90993 broad.mit.edu 37 11 46332639 46332639 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:46332639G>A ENST00000529193.1 + 5 1103 c.652G>A c.(652-654)Ggc>Agc p.G218S CREB3L1_ENST00000288400.3_Missense_Mutation_p.G218S Q96BA8 CR3L1_HUMAN cAMP responsive element binding protein 3-like 1 218 response to unfolded protein endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity FUS/CREB3L1(6) NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3) 12 GBM - Glioblastoma multiforme(35;0.0285) TGACAGCGACGGCTCCCAGAG 0.672000 T FUS myxofibrosarcoma 37 74 0 0 1 0 0 SPTBN5 51332 broad.mit.edu 37 15 42147810 42147810 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:42147810C>T ENST00000320955.6 - 54 9382 c.9155G>A c.(9154-9156)aGc>aAc p.S3052N NM_016642.2 NP_057726.4 Q9NRC6 SPTN5_HUMAN spectrin, beta, non-erythrocytic 5 3052 actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 62 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) GATGCGTGGGCTGAACGCTTC 0.637000 4 30 0 0 1 0 0 AP1S1 1174 broad.mit.edu 37 7 100799968 100799968 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:100799968C>T ENST00000337619.5 + 2 215 c.97C>T c.(97-99)Cgc>Tgc p.R33C NM_001283.3 NP_001274.1 P61966 AP1S1_HUMAN adaptor-related protein complex 1, sigma 1 subunit 33 intracellular protein transport|post-Golgi vesicle-mediated transport|receptor-mediated endocytosis|regulation of defense response to virus by virus|response to virus|viral reproduction AP-1 adaptor complex|coated pit|cytosol|lysosomal membrane protein binding|protein transporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2) 8 Lung NSC(181;0.168)|all_lung(186;0.215) GAAGATGGTGCGCGAGCTCAT 0.542000 9 20 0 0 1 0 0 TRPM3 80036 broad.mit.edu 37 9 73442894 73442894 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:73442894T>C ENST00000377110.2 - 6 1085 c.842A>G c.(841-843)aAg>aGg p.K281R TRPM3_ENST00000357533.2_Missense_Mutation_p.K283R|TRPM3_ENST00000396292.4_Missense_Mutation_p.K128R|TRPM3_ENST00000396285.1_Missense_Mutation_p.K128R|TRPM3_ENST00000396283.1_Missense_Mutation_p.K128R|TRPM3_ENST00000396280.5_Missense_Mutation_p.K128R|TRPM3_ENST00000360823.2_Missense_Mutation_p.K128R|TRPM3_ENST00000408909.2_Missense_Mutation_p.K128R|TRPM3_ENST00000377101.1_Missense_Mutation_p.K128R|TRPM3_ENST00000423814.3_Missense_Mutation_p.K283R|TRPM3_ENST00000377111.2_Missense_Mutation_p.K281R|TRPM3_ENST00000377106.1_Missense_Mutation_p.K128R|TRPM3_ENST00000358082.3_Missense_Mutation_p.K128R|TRPM3_ENST00000361823.5_Missense_Mutation_p.K128R|TRPM3_ENST00000377105.1_Missense_Mutation_p.K128R NM_001007471.2 NP_001007472.2 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, subfamily M, member 3 281 integral to membrane calcium channel activity NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 AACAGTGAGCTTGCTCATGGG 0.463000 8 184 0 0 1 0 0 IFNGR2 3460 broad.mit.edu 37 21 34793935 34793935 + Missense_Mutation SNP C C G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr21:34793935C>G ENST00000290219.6 + 3 1003 c.355C>G c.(355-357)Ctg>Gtg p.L119V IFNGR2_ENST00000405436.1_Missense_Mutation_p.L40V|IFNGR2_ENST00000381995.1_Missense_Mutation_p.L138V NM_005534.3 NP_005525.2 P38484 INGR2_HUMAN interferon gamma receptor 2 (interferon gamma transducer 1) 119 Fibronectin type-III 1. regulation of interferon-gamma-mediated signaling pathway|response to virus endoplasmic reticulum|integral to plasma membrane interferon-gamma receptor activity NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1) 13 Interferon gamma-1b(DB00033) TCGAGCTGAGCTGGGAGCACT 0.483000 43 149 0 0 1 0 0 ZNF341 84905 broad.mit.edu 37 20 32328785 32328785 + Missense_Mutation SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:32328785A>T ENST00000375200.1 + 2 474 c.109A>T c.(109-111)Agt>Tgt p.S37C ZNF341_ENST00000342427.2_Missense_Mutation_p.S37C Q9BYN7 ZN341_HUMAN zinc finger protein 341 37 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3) 31 GACAGGCCAGAGTGTCAATGC 0.552000 6 104 0 0 1 0 0 SLC30A6 55676 broad.mit.edu 37 2 32400414 32400414 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:32400414A>G ENST00000282587.5 + 4 239 c.202A>G c.(202-204)Att>Gtt p.I68V SLC30A6_ENST00000406369.1_Intron|SLC30A6_ENST00000379343.2_Missense_Mutation_p.I68V|SLC30A6_ENST00000357055.3_Intron|SLC30A6_ENST00000538303.1_Missense_Mutation_p.I39V|SLC30A6_ENST00000435660.1_Missense_Mutation_p.I68V NM_017964.3 NP_060434.2 Q6NXT4 ZNT6_HUMAN solute carrier family 30 (zinc transporter), member 6 68 Golgi membrane|integral to membrane zinc ion transmembrane transporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) TTACCTGACCATTTTTGATCT 0.299000 17 18 0 0 1 0 0 GCN1L1 10985 broad.mit.edu 37 12 120585045 120585045 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:120585045C>T ENST00000300648.6 - 38 4770 c.4758G>A c.(4756-4758)acG>acA p.T1586T NM_006836.1 NP_006827.1 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1-like 1 (yeast) 1586 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TGGAGGGATCCGTCAGGGCAT 0.567000 26 47 0 0 1 0 0 ATP8B3 148229 broad.mit.edu 37 19 1802636 1802636 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:1802636T>C ENST00000539485.1 - 11 1146 c.913A>G c.(913-915)Acg>Gcg p.T305A ATP8B3_ENST00000526092.1_Missense_Mutation_p.T252A|ATP8B3_ENST00000525591.1_Missense_Mutation_p.T252A|ATP8B3_ENST00000310127.6_Missense_Mutation_p.T305A O60423 AT8B3_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 3 305 ATP biosynthetic process ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 23 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCCTCACACGTCACTGTGCCT 0.617000 6 26 0 0 1 0 0 BPIFB4 149954 broad.mit.edu 37 20 31676817 31676817 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:31676817C>T ENST00000375483.3 + 6 972 c.972C>T c.(970-972)gcC>gcT p.A324A NM_182519.2 NP_872325.2 P59827 LPLC4_HUMAN BPI fold containing family B, member 4 324 cytoplasm|extracellular region lipid binding GAGTCCTGGCCGACGTCCTCC 0.597000 41 164 0 0 1 0 0 GNAS 2778 broad.mit.edu 37 20 57415854 57415854 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:57415854G>A ENST00000313949.7 + 1 1082 c.693G>A c.(691-693)ccG>ccA p.P231P GNAS_ENST00000371075.3_Silent_p.P231P|GNAS-AS1_ENST00000424094.2_RNA|GNAS_ENST00000371098.2_Silent_p.P231P|GNAS-AS1_ENST00000443966.1_RNA|GNAS-AS1_ENST00000598163.1_RNA P63092 GNAS2_HUMAN GNAS complex locus 326 R -> H (in AHO; impairs the ability to mediate hormonal stimulation). activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1) 441 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) ACGCGTCCCCGGAGTCCCCTT 0.592000 Mis pituitary adenoma """McCune-Albright syndrome; pseudohypoparathyroidism, type IA""" TSP Lung(22;0.16) 9 31 0 0 1 0 0 LCT 3938 broad.mit.edu 37 2 136575315 136575315 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:136575315T>C ENST00000264162.2 - 6 1313 c.1303A>G c.(1303-1305)Aag>Gag p.K435E NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 435 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) GAGGCTACCTTGTGGTAACTG 0.652000 40 109 0 0 1 0 0 CABIN1 23523 broad.mit.edu 37 22 24563208 24563208 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr22:24563208G>A ENST00000398319.2 + 32 5994 c.5609G>A c.(5608-5610)gGc>gAc p.G1870D CABIN1_ENST00000337989.7_Missense_Mutation_p.G295D|CABIN1_ENST00000485008.1_3'UTR|CABIN1_ENST00000263119.5_Missense_Mutation_p.G1870D|CABIN1_ENST00000405822.2_Missense_Mutation_p.G1791D NM_001199281.1 NP_001186210.1 Q9Y6J0 CABIN_HUMAN calcineurin binding protein 1 1870 cell surface receptor linked signaling pathway|chromatin modification nucleus protein phosphatase inhibitor activity breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 TGGCAGCAGGGCCAGAAGGGT 0.627000 10 34 0 0 1 0 0 ARHGAP39 80728 broad.mit.edu 37 8 145758541 145758541 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:145758541G>A ENST00000276826.5 - 7 2965 c.2764C>T c.(2764-2766)Ctc>Ttc p.L922F ARHGAP39_ENST00000377307.2_Missense_Mutation_p.L953F|ARHGAP39_ENST00000540274.1_Missense_Mutation_p.L922F Q9C0H5 RHG39_HUMAN Rho GTPase activating protein 39 922 Rho-GAP. axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|nucleus GTPase activator activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 TCACCGTTGAGCGCCAGCACC 0.672000 5 181 0 0 1 0 0 TOX4 9878 broad.mit.edu 37 14 21960674 21960674 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:21960674T>C ENST00000405508.1 + 8 1175 c.899T>C c.(898-900)gTg>gCg p.V300A TOX4_ENST00000262709.3_Missense_Mutation_p.V300A|TOX4_ENST00000448790.2_Missense_Mutation_p.V277A O94842 TOX4_HUMAN TOX high mobility group box family member 4 300 chromatin|nucleus|PTW/PP1 phosphatase complex DNA binding|protein binding large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(95;0.000465) Epithelial(56;6.61e-06)|all cancers(55;5.15e-05) GBM - Glioblastoma multiforme(265;0.0149) TAGGCCACTGTGGAAACAGTG 0.408000 10 195 0 0 1 0 0 ZCCHC2 54877 broad.mit.edu 37 18 60241692 60241692 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr18:60241692T>C ENST00000269499.5 + 13 2796 c.2378T>C c.(2377-2379)tTa>tCa p.L793S ZCCHC2_ENST00000586834.1_Missense_Mutation_p.L472S NM_017742.4 NP_060212.4 Q9C0B9 ZCHC2_HUMAN zinc finger, CCHC domain containing 2 793 cell communication cytoplasm nucleic acid binding|phosphatidylinositol binding|zinc ion binding breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 25 GCTTCCCCTTTACCTATTCCA 0.488000 9 89 0 0 1 0 0 CLSTN3 9746 broad.mit.edu 37 12 7288935 7288935 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:7288935C>T ENST00000537408.1 + 5 1450 c.912C>T c.(910-912)gcC>gcT p.A304A CLSTN3_ENST00000266546.6_Silent_p.A292A Q9BQT9 CSTN3_HUMAN calsyntenin 3 292 homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1) 33 GCCATGTGGCCAAGGGCTGTG 0.587000 14 63 0 0 1 0 0 ATP1B3 483 broad.mit.edu 37 3 141622465 141622465 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:141622465T>C ENST00000539728.1 + 3 364 c.71T>C c.(70-72)tTg>tCg p.L24S ATP1B3_ENST00000286371.3_Missense_Mutation_p.L38S|ATP1B3_ENST00000462082.1_5'UTR P54709 AT1B3_HUMAN ATPase, Na+/K+ transporting, beta 3 polypeptide 38 ATP biosynthetic process|blood coagulation|leukocyte migration melanosome|sodium:potassium-exchanging ATPase complex protein binding|sodium:potassium-exchanging ATPase activity cervix(1)|endometrium(1)|lung(2) 4 TTTACAGGTTTGATCTTGCTC 0.408000 15 49 0 0 1 0 0 AKNA 80709 broad.mit.edu 37 9 117124719 117124719 + Missense_Mutation SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:117124719G>T ENST00000307564.4 - 8 2044 c.1883C>A c.(1882-1884)tCc>tAc p.S628Y AKNA_ENST00000223791.3_Missense_Mutation_p.S88Y|AKNA_ENST00000374088.3_Missense_Mutation_p.S628Y|AKNA_ENST00000312033.3_Missense_Mutation_p.S628Y|AKNA_ENST00000374075.5_Missense_Mutation_p.S547Y NM_030767.4 NP_110394.3 Q7Z591 AKNA_HUMAN AT-hook transcription factor 628 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2) 51 CGTCCCCTTGGAGCCGGCAAG 0.647000 8 23 0.000274275 0.00027791 1 1 0 OBSCN 84033 broad.mit.edu 37 1 228400338 228400338 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:228400338T>C ENST00000570156.2 + 2 928 c.854T>C c.(853-855)gTg>gCg p.V285A OBSCN_ENST00000422127.1_Missense_Mutation_p.V285A|C1orf145_ENST00000295012.5_Intron|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.V285A NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 285 Ig-like 3. 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) CGGCGCCACGTGGTGTACGAG 0.672000 26 104 0 0 1 0 0 FZD8 8325 broad.mit.edu 37 10 35929076 35929076 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:35929076T>C ENST00000374694.1 - 1 1286 c.1282A>G c.(1282-1284)Aag>Gag p.K428E NM_031866.2 NP_114072.1 Q9H461 FZD8_HUMAN frizzled family receptor 8 428 axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development cell projection|Golgi apparatus|integral to membrane|plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1) 11 TTGCCCCACTTCATACCGGCC 0.622000 13 23 0 0 1 0 0 CUX1 1523 broad.mit.edu 37 7 101840288 101840288 + Missense_Mutation SNP G G C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:101840288G>C ENST00000360264.3 + 15 1650 c.1630G>C c.(1630-1632)Gcc>Ccc p.A544P CUX1_ENST00000556210.1_Missense_Mutation_p.A431P|CUX1_ENST00000549414.2_Missense_Mutation_p.A533P|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000550008.2_Missense_Mutation_p.A533P|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.A431P|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000292535.7_Missense_Mutation_p.A533P NM_001202543.1 NP_001189472.1 P39880 CUX1_HUMAN cut-like homeobox 1 533 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5) 70 CAATGGCATGGCCCCATCCCC 0.522000 7 157 0 0 1 0 0 SCGB3A2 117156 broad.mit.edu 37 5 147261109 147261109 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:147261109T>C ENST00000296694.4 + 2 249 c.156T>C c.(154-156)ctT>ctC p.L52L SCGB3A2_ENST00000504320.1_Silent_p.L7L|C5orf46_ENST00000510432.1_Intron|SCGB3A2_ENST00000514688.1_3'UTR NM_054023.4 NP_473364.1 Q96PL1 SG3A2_HUMAN secretoglobin, family 3A, member 2 52 extracellular region binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TAAAGCTTCTTCTGAAAACTC 0.473000 38 111 0 0 1 0 0 MCM3AP 8888 broad.mit.edu 37 21 47704204 47704204 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr21:47704204G>A ENST00000397708.1 - 2 1251 c.997C>T c.(997-999)Cgg>Tgg p.R333W MCM3AP_ENST00000291688.1_Missense_Mutation_p.R333W O60318 MCM3A_HUMAN minichromosome maintenance complex component 3 associated protein 333 R -> L (in dbSNP:rs17182552). DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 72 Breast(49;0.112) GTACCTCCCCGGGGTCGATTC 0.537000 42 160 0 0 1 0 0 LMLN 89782 broad.mit.edu 37 3 197687215 197687215 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:197687215A>G ENST00000330198.4 + 1 145 c.123A>G c.(121-123)ttA>ttG p.L41L LMLN_ENST00000482695.1_Intron|LMLN_ENST00000420910.2_Silent_p.L41L|LMLN_ENST00000332636.5_Intron NM_033029.3 NP_149018.2 Q96KR4 LMLN_HUMAN leishmanolysin-like (metallopeptidase M8 family) 41 cell adhesion|cell division|mitosis|proteolysis cytoplasm|membrane metalloendopeptidase activity|zinc ion binding endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Lung NSC(153;0.132) Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.111) GAAGCGTTTTACTCCTGTTGG 0.687000 4 158 0 0 1 0 0 RAG1 5896 broad.mit.edu 37 11 36597387 36597387 + Missense_Mutation SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:36597387A>T ENST00000299440.5 + 2 2645 c.2533A>T c.(2533-2535)Aac>Tac p.N845Y NM_000448.2 NP_000439.1 P15918 RAG1_HUMAN recombination activating gene 1 845 histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 65 all_lung(20;0.226) all_hematologic(20;0.107) GAAGAAGATGAACCTCAAACC 0.473000 Familial Hemophagocytic Lymphohistiocytosis 17 59 0 0 1 0 0 FAM135B 51059 broad.mit.edu 37 8 139165179 139165179 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:139165179C>T ENST00000395297.1 - 13 1709 c.1539G>A c.(1537-1539)gtG>gtA p.V513V NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 513 p.V513V(2) NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) CATCTTCAGGCACACCTGCTT 0.458000 HNSCC(54;0.14) 9 150 0 0 1 0 0 CROCC 9696 broad.mit.edu 37 1 17275411 17275411 + Missense_Mutation SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:17275411G>T ENST00000375541.5 + 19 2895 c.2826G>T c.(2824-2826)gaG>gaT p.E942D CROCC_ENST00000467938.1_Intron NM_014675.3 NP_055490.3 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil, rootletin 942 cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1) 62 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) TGGCCAAGGAGACCCTGACTG 0.667000 13 53 6.72482e-11 6.97693e-11 1 1 0 DLX5 1749 broad.mit.edu 37 7 96650052 96650052 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:96650052T>C ENST00000222598.4 - 3 1339 c.866A>G c.(865-867)tAt>tGt p.Y289C DLX5_ENST00000493764.1_5'UTR NM_005221.5 NP_005212.1 P56178 DLX5_HUMAN distal-less homeobox 5 289 cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1) 20 all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858) GCCCATCTAATAGAGTGTCCC 0.507000 12 63 0 0 1 0 0 LST3 0 broad.mit.edu 37 12 21242847 21242847 + Missense_Mutation SNP C C G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:21242847C>G ENST00000540229.1 + 16 2119 c.2054C>G c.(2053-2055)gCc>gGc p.A685G LST3_ENST00000381541.3_Missense_Mutation_p.A624G|SLCO1B7_ENST00000421593.2_Missense_Mutation_p.A577G|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.A624G|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.A685G|RP11-125O5.2_ENST00000590779.1_Intron CACAGAAGAGCCTTCTTCGGC 0.294000 6 36 0 0 1 0 0 ABCA2 20 broad.mit.edu 37 9 139905674 139905674 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:139905674A>G ENST00000265662.5 - 38 6034 c.5887T>C c.(5887-5889)Tac>Cac p.Y1963H ABCA2_ENST00000341511.6_Missense_Mutation_p.Y1963H|ABCA2_ENST00000371605.3_Missense_Mutation_p.Y1962H Q9BZC7 ABCA2_HUMAN ATP-binding cassette, sub-family A (ABC1), member 2 1962 cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center ATP binding|ATPase activity, coupled to transmembrane movement of substances central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 41 all_cancers(76;0.16) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) TACTCGTTGTAGGCCATCTCC 0.617000 4 91 0 0 1 0 0 POMGNT1 55624 broad.mit.edu 37 1 46662488 46662488 + Missense_Mutation SNP C C T rs139701867 byFrequency TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:46662488C>T ENST00000396420.3 - 4 905 c.269G>A c.(268-270)cGc>cAc p.R90H POMGNT1_ENST00000371986.3_Missense_Mutation_p.R90H|POMGNT1_ENST00000371992.1_Missense_Mutation_p.R90H|POMGNT1_ENST00000371984.3_Missense_Mutation_p.R90H|POMGNT1_ENST00000535522.1_Missense_Mutation_p.R68H Q8WZA1 PMGT1_HUMAN protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 90 protein N-linked glycosylation|protein O-linked glycosylation Golgi membrane|integral to membrane|microsome alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 20 Acute lymphoblastic leukemia(166;0.155) ACTGCCTCTGCGCCGTGGGGG 0.622000 38 125 0 0 1 0 0 C16orf58 64755 broad.mit.edu 37 16 31508199 31508199 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:31508199C>T ENST00000327237.2 - 6 712 c.673G>A c.(673-675)Gct>Act p.A225T C16orf58_ENST00000567994.1_Missense_Mutation_p.A180T|C16orf58_ENST00000570164.1_Missense_Mutation_p.A225T|C16orf58_ENST00000430477.2_Missense_Mutation_p.A83T Q96GQ5 CP058_HUMAN chromosome 16 open reading frame 58 225 integral to membrane breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1) 14 GACACGTCAGCCATGTTGTTC 0.642000 3 26 0 0 1 0 0 THBS3 7059 broad.mit.edu 37 1 155172668 155172668 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:155172668A>G ENST00000368378.3 - 8 912 c.892T>C c.(892-894)Tac>Cac p.Y298H RP11-263K19.4_ENST00000422665.1_RNA|THBS3_ENST00000428962.2_Missense_Mutation_p.Y148H|RP11-263K19.4_ENST00000430312.1_RNA|THBS3_ENST00000541990.1_5'UTR|RP11-263K19.4_ENST00000453136.1_RNA|THBS3_ENST00000457183.2_Missense_Mutation_p.Y178H|THBS3_ENST00000487250.1_5'UTR NM_001252607.1|NM_007112.4 NP_001239536.1|NP_009043.1 P49746 TSP3_HUMAN thrombospondin 3 298 EGF-like 1. cell-matrix adhesion extracellular region|perinuclear region of cytoplasm calcium ion binding|heparin binding|structural molecule activity breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3) 48 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) CCACAGCGGTAGCCTGGGTAC 0.617000 19 77 0 0 1 0 0 SERPINF2 5345 broad.mit.edu 37 17 1648678 1648678 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:1648678T>C ENST00000324015.3 + 4 231 c.154T>C c.(154-156)Ttg>Ctg p.L52L SERPINF2_ENST00000450523.2_Silent_p.L52L|SERPINF2_ENST00000382061.4_Silent_p.L52L NM_000934.3 NP_000925.2 P08697 A2AP_HUMAN serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2 52 acute-phase response|fibrinolysis|platelet activation|platelet degranulation|regulation of proteolysis extracellular space|platelet alpha granule lumen protease binding|serine-type endopeptidase inhibitor activity breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) Streptokinase(DB00086) CCTCCTCAAGTTGGGCAACCA 0.672000 25 63 0 0 1 0 0 NUP153 9972 broad.mit.edu 37 6 17629211 17629211 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:17629211T>C ENST00000262077.2 - 18 3218 c.3219A>G c.(3217-3219)gaA>gaG p.E1073E NUP153_ENST00000537253.1_Silent_p.E1104E NM_005124.2 NP_005115.2 P49790 NU153_HUMAN nucleoporin 153kDa 1073 carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm DNA binding|protein binding|transporter activity|zinc ion binding NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2) 53 Breast(50;0.0259)|Ovarian(93;0.0584) all_hematologic(90;0.125) all cancers(50;0.0981)|Epithelial(50;0.112) CAGGCATTTCTTCTTTTTTAG 0.468000 30 88 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179498630 179498630 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:179498630T>C ENST00000589042.1 - 231 42820 c.42596A>G c.(42595-42597)gAa>gGa p.E14199G TTN_ENST00000460472.2_Missense_Mutation_p.E5134G|TTN_ENST00000342992.6_Missense_Mutation_p.E11631G|TTN_ENST00000591111.1_Missense_Mutation_p.E12558G|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E5259G|TTN_ENST00000342175.6_Missense_Mutation_p.E5326G|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 12558 Fibronectin type-III 2. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity 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) TTCTTTCATTTCCAATTTGTG 0.398000 9 236 0 0 1 0 0 TXN 7295 broad.mit.edu 37 9 113006438 113006438 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:113006438T>C ENST00000374517.5 - 5 521 c.317A>G c.(316-318)tAa>tGa p.*106* TXN_ENST00000374515.5_Silent_p.*86*|TXN_ENST00000487892.1_5'UTR NM_003329.3 NP_003320.2 P10599 THIO_HUMAN thioredoxin 0 cell proliferation|cell-cell signaling|cellular component movement|electron transport chain|glycerol ether metabolic process|nucleobase, nucleoside and nucleotide interconversion|positive regulation of DNA binding|regulation of protein import into nucleus, translocation|response to radiation|signal transduction|transcription, DNA-dependent|transport cytosol|extracellular region|nucleoplasm electron carrier activity|protein binding|protein disulfide oxidoreductase activity kidney(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(323;7.36e-07) AAAACATGATTAGACTAATTC 0.308000 4 19 0 0 1 0 0 BAG1 573 broad.mit.edu 37 9 33255240 33255240 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:33255240T>C ENST00000472232.3 - 7 1101 c.1015A>G c.(1015-1017)Aca>Gca p.T339A BAG1_ENST00000467389.2_5'UTR|BAG1_ENST00000379704.2_Missense_Mutation_p.T224A NM_001172415.1|NM_004323.5 NP_001165886.1|NP_004314.5 Q99933 BAG1_HUMAN BCL2-associated athanogene 339 Interaction with PPP1R15A. anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|chaperone cofactor-dependent protein refolding cytoplasm|intermediate filament cytoskeleton|nucleus protein binding|receptor signaling protein activity endometrium(1)|large_intestine(3)|lung(3)|ovary(1) 8 LUSC - Lung squamous cell carcinoma(29;0.00506) GCAAAGTTTGTAGACTGCAGC 0.562000 39 111 0 0 1 0 0 POU6F2 11281 broad.mit.edu 37 7 39500223 39500223 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:39500223C>T ENST00000518318.2 + 9 1522 c.1480C>T c.(1480-1482)Cgg>Tgg p.R494W POU6F2_ENST00000559001.1_Missense_Mutation_p.R439W|POU6F2_ENST00000403058.1_Missense_Mutation_p.R494W P78424 PO6F2_HUMAN POU class 6 homeobox 2 494 POU-specific. central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 TTTTAAAATCCGGCGCCTGTC 0.552000 3 19 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152683313 152683313 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:152683313T>C ENST00000367255.5 - 64 10892 c.10291A>G c.(10291-10293)Aaa>Gaa p.K3431E SYNE1_ENST00000423061.1_Missense_Mutation_p.K3438E|SYNE1_ENST00000448038.1_Missense_Mutation_p.K3438E|SYNE1_ENST00000265368.4_Missense_Mutation_p.K3431E|SYNE1_ENST00000341594.5_Missense_Mutation_p.K3450E NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 3431 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) ACCTTGGCTTTTCCGAGCATC 0.478000 HNSCC(10;0.0054) 5 79 0 0 1 0 0 KCTD4 386618 broad.mit.edu 37 13 45768564 45768564 + Missense_Mutation SNP G G C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr13:45768564G>C ENST00000405872.1 - 2 542 c.139C>G c.(139-141)Caa>Gaa p.Q47E KCTD4_ENST00000379108.1_Missense_Mutation_p.Q47E|GTF2F2_ENST00000340473.6_Intron NM_198404.2 NP_940686.2 Q8WVF5 KCTD4_HUMAN potassium channel tetramerization domain containing 4 47 BTB. voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|endometrium(1)|large_intestine(2)|lung(4) 8 Lung NSC(96;6.55e-05)|Breast(139;0.00378)|Prostate(109;0.00438)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000249)|BRCA - Breast invasive adenocarcinoma(63;0.207) GTTTGTTTTTGAGTAATGTAT 0.398000 60 179 0 0 1 0 0 KNTC1 9735 broad.mit.edu 37 12 123089855 123089855 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:123089855A>G ENST00000333479.7 + 51 5566 c.5389A>G c.(5389-5391)Att>Gtt p.I1797V KNTC1_ENST00000436959.3_5'UTR|KNTC1_ENST00000537348.1_Missense_Mutation_p.I222V|KNTC1_ENST00000450485.2_Intron NM_014708.4 NP_055523.1 P50748 KNTC1_HUMAN kinetochore associated 1 1797 cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole protein binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 72 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217) TATCTTAGATATTCATGCAGC 0.289000 5 15 0 0 1 0 0 HP 3240 broad.mit.edu 37 16 72093018 72093018 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:72093018T>C ENST00000355906.5 + 6 431 c.373T>C c.(373-375)Tac>Cac p.Y125H HP_ENST00000570083.1_Missense_Mutation_p.Y66H|HP_ENST00000569639.1_Missense_Mutation_p.Y66H|HPR_ENST00000356967.5_Intron|HP_ENST00000398131.2_Missense_Mutation_p.Y66H|HP_ENST00000565574.1_Intron|HP_ENST00000562526.1_Missense_Mutation_p.Y66H NM_005143.3 NP_005134.1 P00738 HPT_HUMAN haptoglobin 125 Sushi 2. cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide extracellular region|haptoglobin-hemoglobin complex hemoglobin binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1) 7 Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114) BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529) TTCAGGAGTGTACACCTTAAA 0.443000 16 63 0 0 1 0 0 AC226119.5 0 broad.mit.edu 37 4 3949808 3949808 + RNA SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:3949808C>T ENST00000281228.8 - 0 475 FAM86EP_ENST00000313946.8_RNA CCCTGCGCCCCGAGGTCACCT 0.637000 14 59 0 0 1 0 0 ZNF524 147807 broad.mit.edu 37 19 56113819 56113819 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:56113819A>G ENST00000591046.1 + 1 575 c.341A>G c.(340-342)cAc>cGc p.H114R ZNF524_ENST00000301073.3_Missense_Mutation_p.H114R Q96C55 ZN524_HUMAN zinc finger protein 524 114 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|large_intestine(2)|lung(6)|prostate(1) 10 BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.105) AAGGCCCCACACTTCTGCCCG 0.647000 7 17 0 0 1 0 0 SLC22A15 55356 broad.mit.edu 37 1 116574133 116574133 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:116574133C>T ENST00000369503.4 + 6 1005 c.875C>T c.(874-876)aCt>aTt p.T292I SLC22A15_ENST00000369502.1_3'UTR NM_018420.2 NP_060890.2 Q8IZD6 S22AF_HUMAN solute carrier family 22, member 15 292 ion transport integral to membrane transmembrane transporter activity endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1) 17 Lung SC(450;0.184) all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05) Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12) TGCAGGGAGACTGGAAGTTTC 0.498000 4 128 0 0 1 0 0 POLR2M 81488 broad.mit.edu 37 15 58004192 58004192 + Nonsense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:58004192C>T ENST00000299638.3 + 3 983 c.769C>T c.(769-771)Cga>Tga p.R257* GCOM1_ENST00000484300.1_3'UTR|POLR2M_ENST00000380557.4_Nonsense_Mutation_p.R100*|POLR2M_ENST00000380563.2_Nonsense_Mutation_p.R257*|GCOM1_ENST00000587652.1_Nonsense_Mutation_p.R654*|GCOM1_ENST00000380568.3_Intron|GCOM1_ENST00000380569.2_Nonsense_Mutation_p.R439* NM_015532.3 NP_056347.1 polymerase (RNA) II (DNA directed) polypeptide M GTTACCTTTTCGACAAAATGA 0.398000 16 50 0 0 1 0 0 EXPH5 23086 broad.mit.edu 37 11 108381121 108381121 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:108381121T>C ENST00000265843.4 - 6 5223 c.5113A>G c.(5113-5115)Aac>Gac p.N1705D EXPH5_ENST00000428840.1_Missense_Mutation_p.N1629D|EXPH5_ENST00000443411.1_Missense_Mutation_p.N1517D|EXPH5_ENST00000525344.1_Missense_Mutation_p.N1698D NM_015065.2 NP_055880.2 Q149M6 Q149M6_HUMAN exophilin 5 1705 intracellular protein transport Rab GTPase binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1) 91 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) TCTGAGACGTTTTTAAACTCA 0.433000 20 183 0 0 1 0 0 PCDHB10 56126 broad.mit.edu 37 5 140573530 140573530 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:140573530C>T ENST00000239446.4 + 1 1589 c.1405C>T c.(1405-1407)Cac>Tac p.H469Y NM_018930.3 NP_061753.1 Q9UN67 PCDBA_HUMAN 469 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 76 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCCCGCCCTGCACATCGGCAG 0.652000 71 349 0 0 1 0 0 MTMR3 8897 broad.mit.edu 37 22 30408420 30408420 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr22:30408420G>A ENST00000333027.3 + 13 1513 c.1185G>A c.(1183-1185)gcG>gcA p.A395A MTMR3_ENST00000323630.5_Silent_p.A259A|MTMR3_ENST00000406629.1_Silent_p.A395A|MTMR3_ENST00000401950.2_Silent_p.A395A|MTMR3_ENST00000351488.3_Silent_p.A395A|CTA-85E5.10_ENST00000429350.1_RNA NM_153050.2|NM_153051.2 NP_694690.1|NP_694691.1 Q13615 MTMR3_HUMAN myotubularin related protein 3 395 Myotubularin phosphatase. phosphatidylinositol dephosphorylation cytoplasm|membrane|membrane fraction|nucleus metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1) 17 OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107) TGAAATCAGCGCTTCTGGTAG 0.493000 94 239 0 0 1 0 0 HERC3 8916 broad.mit.edu 37 4 89589132 89589132 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:89589132T>C ENST00000402738.1 + 14 1772 c.1533T>C c.(1531-1533)ccT>ccC p.P511P HERC3_ENST00000543130.1_Intron|HERC3_ENST00000264345.3_Silent_p.P511P NM_001271602.1|NM_014606.1 NP_001258531.1|NP_055421.1 Q15034 HERC3_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 3 511 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasmic membrane-bounded vesicle ubiquitin-protein ligase activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2) 45 OV - Ovarian serous cystadenocarcinoma(123;0.000319) TAATACTACCTGAGTTTCCCC 0.418000 39 116 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9088668 9088668 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:9088668T>C ENST00000397910.4 - 1 3350 c.3147A>G c.(3145-3147)gaA>gaG p.E1049E NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 1049 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CCAATCTTCCTTCAGTAATGT 0.468000 28 105 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144940348 144940348 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:144940348G>A ENST00000525985.1 - 2 7145 c.7074C>T c.(7072-7074)ccC>ccT p.P2358P P58107 EPIPL_HUMAN epiplakin 1 2358 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CCACGTCCACGGGCACGCGGT 0.692000 35 767 0 0 1 0 0 SLC12A5 57468 broad.mit.edu 37 20 44673611 44673611 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:44673611C>T ENST00000454036.1 + 12 1546 c.1470C>T c.(1468-1470)ggC>ggT p.G490G SLC12A5_ENST00000539566.1_Intron|SLC12A5_ENST00000243964.3_Silent_p.G467G NM_001134771.1 NP_001128243.1 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium/chloride transporter), member 5 490 potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity p.G467G(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 80 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) CCAGGTTTGGCGAAGCTGTGA 0.567000 45 167 0 0 1 0 0 USP54 159195 broad.mit.edu 37 10 75277428 75277428 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:75277428G>A ENST00000339859.4 - 19 2856 c.2756C>T c.(2755-2757)gCc>gTc p.A919V USP54_ENST00000497106.1_5'UTR|RP11-137L10.6_ENST00000597958.1_RNA|RP11-137L10.6_ENST00000600206.1_RNA|RP11-137L10.6_ENST00000593790.1_RNA|USP54_ENST00000428547.1_Missense_Mutation_p.A769V|USP54_ENST00000422491.2_Missense_Mutation_p.A101V|USP54_ENST00000408019.1_Missense_Mutation_p.A919V|USP54_ENST00000394811.2_Missense_Mutation_p.A7V|RP11-137L10.6_ENST00000595069.1_RNA Q70EL1 UBP54_HUMAN ubiquitin specific peptidase 54 919 ubiquitin-dependent protein catabolic process protein binding|ubiquitin thiolesterase activity breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1) 30 Prostate(51;0.0112) GAAAGAACTGGCCCCAAACTC 0.517000 24 54 0 0 1 0 0 ABAT 18 broad.mit.edu 37 16 8829566 8829566 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:8829566C>T ENST00000567812.1 + 2 277 c.15C>T c.(13-15)caC>caT p.H5H ABAT_ENST00000268251.8_5'UTR|ABAT_ENST00000396600.2_5'UTR|ABAT_ENST00000425191.2_5'UTR|ABAT_ENST00000569156.1_5'UTR P80404 GABT_HUMAN 4-aminobutyrate aminotransferase 0 behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion 4-aminobutyrate transaminase complex|mitochondrial matrix (S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2) 26 Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080) GGTGGCAGCACGCAAAGGGTG 0.597000 3 5 0 0 1 0 0 CD5L 922 broad.mit.edu 37 1 157804402 157804402 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:157804402G>A ENST00000368174.4 - 4 609 c.513C>T c.(511-513)gcC>gcT p.A171A NM_005894.2 NP_005885.1 O43866 CD5L_HUMAN CD5 molecule-like 171 SRCR 2. apoptosis|cellular defense response extracellular space|membrane scavenger receptor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 52 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) CCACCTTTGCGGCCCGGAGGC 0.612000 35 133 0 0 1 0 0 CSGALNACT1 55790 broad.mit.edu 37 8 19316155 19316155 + Splice_Site SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:19316155T>C ENST00000454498.2 - 5 1648 c.e5-2 CSGALNACT1_ENST00000332246.6_Splice_Site|CSGALNACT1_ENST00000311540.4_Splice_Site|CSGALNACT1_ENST00000518542.1_Splice_Site|CSGALNACT1_ENST00000522854.1_Splice_Site|CSGALNACT1_ENST00000544602.1_Splice_Site NM_001130518.1 NP_001123990.1 Q8TDX6 CGAT1_HUMAN chondroitin sulfate N-acetylgalactosaminyltransferase 1 anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process Golgi cisterna membrane|integral to Golgi membrane|soluble fraction glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Colorectal(111;0.182) GGTAGATCCCTGTTAAGAGAA 0.398000 50 148 0 0 1 0 0 KIAA1244 57221 broad.mit.edu 37 6 138584602 138584602 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:138584602A>G ENST00000251691.4 + 12 2148 c.1982A>G c.(1981-1983)aAa>aGa p.K661R NM_020340.4 NP_065073.3 Q5TH69 BIG3_HUMAN KIAA1244 661 SEC7. regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2) 44 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) CTGTCTCTAAAACTGCTGAAG 0.592000 20 80 0 0 1 0 0 IGHV1-69 28461 broad.mit.edu 37 14 107170193 107170193 + RNA SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:107170193A>G ENST00000390633.2 - 0 149 AGGCTTCTTCACCTCAGCCCC 0.577000 14 215 0 0 1 0 0 ZCCHC7 84186 broad.mit.edu 37 9 37126525 37126525 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:37126525A>G ENST00000336755.5 + 2 302 c.196A>G c.(196-198)Agt>Ggt p.S66G ZCCHC7_ENST00000461038.1_3'UTR|ZCCHC7_ENST00000322831.6_Missense_Mutation_p.S65G|ZCCHC7_ENST00000534928.1_Intron NM_032226.2 NP_115602.2 Q8N3Z6 ZCHC7_HUMAN zinc finger, CCHC domain containing 7 66 nucleic acid binding|zinc ion binding central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 30 GBM - Glioblastoma multiforme(29;0.0137) GGAATCTTCGAGTAGTAAACC 0.418000 7 239 0 0 1 0 0 ZNF2 7549 broad.mit.edu 37 2 95847619 95847619 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:95847619A>G ENST00000398107.2 + 4 1442 c.920A>G c.(919-921)aAa>aGa p.K307R ZNF2_ENST00000295210.6_Missense_Mutation_p.K311R|ZNF2_ENST00000425369.1_Missense_Mutation_p.K269R|ZNF2_ENST00000340539.5_Missense_Mutation_p.K349R|ZNF2_ENST00000453539.2_Missense_Mutation_p.K362R NM_001017396.1 NP_001017396.1 Q9BSG1 ZNF2_HUMAN zinc finger protein 2 348 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1) 12 Ovarian(717;0.00768) READ - Rectum adenocarcinoma(193;0.0222) GAGTGTGGCAAAGCTTTCTTT 0.502000 4 145 0 0 1 0 0 EPS15L1 58513 broad.mit.edu 37 19 16515513 16515513 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:16515513G>A ENST00000602009.1 - 8 1747 c.852C>T c.(850-852)ctC>ctT p.L284L EPS15L1_ENST00000594975.1_Silent_p.L438L|EPS15L1_ENST00000597937.1_Silent_p.L438L|EPS15L1_ENST00000535753.2_Silent_p.L438L|EPS15L1_ENST00000455140.2_Silent_p.L438L|EPS15L1_ENST00000248070.6_Silent_p.L438L Q9UBC2 EP15R_HUMAN epidermal growth factor receptor pathway substrate 15-like 1 438 EH 3. endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|nucleus|plasma membrane calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2) 30 TCTGAGCCTCGAGCTCCTGCA 0.547000 21 54 0 0 1 0 0 PCM1 5108 broad.mit.edu 37 8 17804848 17804848 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:17804848G>A ENST00000325083.8 + 7 1376 c.937G>A c.(937-939)Gct>Act p.A313T PCM1_ENST00000518537.1_Missense_Mutation_p.A352T|PCM1_ENST00000519253.1_Missense_Mutation_p.A313T|PCM1_ENST00000524226.1_Missense_Mutation_p.A313T NM_006197.3 NP_006188.3 Q15154 PCM1_HUMAN pericentriolar material 1 313 centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome centriolar satellite|cytosol|nuclear membrane|pericentriolar material identical protein binding PCM1/JAK2(30) breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 48 Colorectal(111;0.0789) AGCAGAGCAAGCTATTGCAGT 0.403000 T """RET, JAK2""" """papillary thyroid, CML, MPD""" 53 150 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228462511 228462511 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:228462511C>T ENST00000570156.2 + 24 7121 c.7047C>T c.(7045-7047)ggC>ggT p.G2349G RP5-1139B12.3_ENST00000602529.1_RNA|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.G1974G|OBSCN_ENST00000359599.6_Silent_p.G821G|OBSCN_ENST00000422127.1_Silent_p.G1974G|OBSCN_ENST00000366709.4_5'UTR NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 1334 Ig-like 23. 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) AGGCTGAGGGCGCCTCATCCT 0.657000 5 17 0 0 1 0 0 COL5A1 1289 broad.mit.edu 37 9 137593114 137593114 + Missense_Mutation SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:137593114C>A ENST00000371817.3 + 4 1003 c.589C>A c.(589-591)Ccc>Acc p.P197T COL5A1_ENST00000464187.1_3'UTR NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 197 Laminin G-like.|TSP N-terminal. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) CAGCGACCACCCCATGATCGA 0.542000 12 24 6.40141e-05 6.51258e-05 1 1 0 FOXF1 2294 broad.mit.edu 37 16 86544993 86544993 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:86544993C>T ENST00000262426.4 + 1 861 c.818C>T c.(817-819)tCg>tTg p.S273L NM_001451.2 NP_001442.2 Q12946 FOXF1_HUMAN forkhead box F1 273 branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1) 12 TGGCCGCCCTCGGCGTCCGCG 0.746000 7 13 0 0 1 0 0 KCNMB4 27345 broad.mit.edu 37 12 70760631 70760631 + Missense_Mutation SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:70760631G>T ENST00000258111.4 + 1 576 c.117G>T c.(115-117)tgG>tgT p.W39C NM_014505.5 NP_055320.4 Q86W47 KCMB4_HUMAN potassium large conductance calcium-activated channel, subfamily M, beta member 4 39 detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of neurotransmitter secretion|regulation of vasoconstriction|synaptic transmission voltage-gated potassium channel complex calcium-activated potassium channel activity|protein binding kidney(1)|large_intestine(4)|lung(5) 10 Renal(347;0.236) Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118) GCTTCTGCTGGCTGAGTCCCG 0.602000 9 78 1.12685e-05 1.15187e-05 1 1 0 MARK2 2011 broad.mit.edu 37 11 63662752 63662752 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:63662752T>C ENST00000402010.2 + 2 755 c.176T>C c.(175-177)aTt>aCt p.I59T MARK2_ENST00000513765.2_Missense_Mutation_p.I26T|MARK2_ENST00000508192.1_Missense_Mutation_p.I59T|MARK2_ENST00000350490.7_Missense_Mutation_p.I59T|MARK2_ENST00000413835.2_Missense_Mutation_p.I59T|MARK2_ENST00000315032.8_Missense_Mutation_p.I59T|MARK2_ENST00000361128.5_Missense_Mutation_p.I59T|MARK2_ENST00000377809.4_Missense_Mutation_p.I59T|MARK2_ENST00000509502.2_Missense_Mutation_p.I26T|MARK2_ENST00000425897.2_Missense_Mutation_p.I26T|MARK2_ENST00000377810.3_Missense_Mutation_p.I26T|MARK2_ENST00000408948.3_Missense_Mutation_p.I26T|MARK2_ENST00000502399.3_Missense_Mutation_p.I59T NM_001039469.2 NP_001034558.2 Q7KZI7 MARK2_HUMAN MAP/microtubule affinity-regulating kinase 2 59 Protein kinase. cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress plasma membrane ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 CTCAAGACCATTGGCAAGGGT 0.572000 26 83 0 0 1 0 0 CACYBP 27101 broad.mit.edu 37 1 174976282 174976282 + Missense_Mutation SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:174976282G>T ENST00000367681.2 + 4 892 c.252G>T c.(250-252)atG>atT p.M84I CACYBP_ENST00000405362.1_Missense_Mutation_p.M84I|CACYBP_ENST00000367679.2_Missense_Mutation_p.M127I NM_001007214.1 NP_001007215.1 Q9HB71 CYBP_HUMAN calcyclin binding protein 127 CS.|Interaction with SKP1. beta-catenin destruction complex protein homodimerization activity p.M127I(1) NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|prostate(1) 11 GTTACTCCATGATTGTGAACA 0.353000 23 71 2.21704e-12 2.30811e-12 1 1 0 PPP1R15A 23645 broad.mit.edu 37 19 49377372 49377372 + Silent SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:49377372C>A ENST00000200453.5 + 2 1151 c.882C>A c.(880-882)gcC>gcA p.A294A NM_014330.3 NP_055145.3 O75807 PR15A_HUMAN protein phosphatase 1, regulatory subunit 15A 294 Glu-rich. apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus endoplasmic reticulum protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1) 23 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033) CAGCCCCAGCCCAGAGGCCCC 0.587000 34 68 1.836e-18 1.93239e-18 1 1 0 ATP6V0D1 9114 broad.mit.edu 37 16 67472484 67472484 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:67472484A>G ENST00000290949.3 - 8 1153 c.1003T>C c.(1003-1005)Tgt>Cgt p.C335R ATP6V0D1_ENST00000602876.1_Missense_Mutation_p.C258R|ATP6V0D1_ENST00000567694.1_5'UTR|ATP6V0D1_ENST00000540149.1_Missense_Mutation_p.C376R NM_004691.4 NP_004682.2 P61421 VA0D1_HUMAN ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1 335 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex large_intestine(3)|lung(3)|urinary_tract(2) 8 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101) TGGGCGATACATTCAGCGATC 0.522000 30 65 0 0 1 0 0 FAN1 22909 broad.mit.edu 37 15 31210385 31210385 + Silent SNP C C T rs144494434 by1000genomes TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:31210385C>T ENST00000362065.4 + 6 2121 c.1830C>T c.(1828-1830)caC>caT p.H610H NM_014967.4 NP_055782.3 Q9Y2M0 FAN1_HUMAN FANCD2/FANCI-associated nuclease 1 610 double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision nucleus 5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1) 29 CAGCCACGCACATGCTGAGTG 0.473000 Direct reversal of damage 4 106 0 0 1 0 0 POC1A 25886 broad.mit.edu 37 3 52185030 52185030 + Splice_Site SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:52185030A>G ENST00000394970.2 - 2 421 c.e2+1 POC1A_ENST00000296484.2_Splice_Site|POC1A_ENST00000474012.1_Splice_Site NM_001161580.1 NP_001155052.1 Q8NBT0 POC1A_HUMAN POC1 centriolar protein A centriole|microtubule basal body endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1) 14 GCCTCTTCTTACCCAGCTGCT 0.542000 49 145 0 0 1 0 0 GALNTL6 442117 broad.mit.edu 37 4 172735823 172735823 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:172735823A>G ENST00000506823.1 + 2 749 c.92A>G c.(91-93)tAc>tGc p.Y31C GALNTL6_ENST00000511251.1_Missense_Mutation_p.Y31C NM_001034845.2 NP_001030017.2 Q49A17 GLTL6_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6 31 Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding p.Y31C(1) breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 45 TGGTCTCTGTACAAGGATAAG 0.493000 13 53 0 0 1 0 0 DGKK 139189 broad.mit.edu 37 X 50122668 50122668 + RNA SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chrX:50122668T>C ENST00000376025.2 - 0 2878 Q5KSL6 DGKK_HUMAN diacylglycerol kinase, kappa activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(276;0.236) ACCTCCAGCATAGCTGGTAAT 0.468000 23 35 0 0 1 0 0 COL3A1 1281 broad.mit.edu 37 2 189873756 189873756 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:189873756A>G ENST00000304636.3 + 48 3802 c.3632A>G c.(3631-3633)gAa>gGa p.E1211G COL3A1_ENST00000317840.5_Missense_Mutation_p.E908G NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 1211 axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) ATTGGAGGTGAAAAAGCTGGC 0.532000 32 107 0 0 1 0 0 EFNA2 1943 broad.mit.edu 37 19 1299893 1299893 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:1299893C>T ENST00000215368.2 + 4 606 c.591C>T c.(589-591)tgC>tgT p.C197C MUM1_ENST00000344663.3_Intron NM_001405.3 NP_001396.2 O43921 EFNA2_HUMAN ephrin-A2 197 cell-cell signaling anchored to membrane|plasma membrane ephrin receptor binding lung(2) 2 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) CGGGCGGCTGCCGCCTCTTCC 0.682000 4 14 0 0 1 0 0 OR5D16 390144 broad.mit.edu 37 11 55606662 55606662 + Missense_Mutation SNP G G C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:55606662G>C ENST00000378396.1 + 1 435 c.435G>C c.(433-435)atG>atC p.M145I NM_001005496.1 NP_001005496.1 Q8NGK9 OR5DG_HUMAN olfactory receptor, family 5, subfamily D, member 16 145 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 44 all_epithelial(135;0.208) TCTGTGCCATGCTGGTGGTTG 0.448000 31 76 0 0 1 0 0 TNFRSF1A 7132 broad.mit.edu 37 12 6439184 6439184 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:6439184A>G ENST00000162749.2 - 9 1116 c.817T>C c.(817-819)Ttc>Ctc p.F273L TNFRSF1A_ENST00000540022.1_Missense_Mutation_p.F230L NM_001065.3 NP_001056.1 P19438 TNR1A_HUMAN tumor necrosis factor receptor superfamily, member 1A 273 apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process extracellular region|integral to plasma membrane|membrane raft tumor necrosis factor receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 19 gtgggactgaagcttgggttt 0.602000 3 21 0 0 1 0 0 BMP8B 656 broad.mit.edu 37 1 40230438 40230438 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:40230438C>T ENST00000372827.3 - 4 1100 c.725G>A c.(724-726)cGc>cAc p.R242H BMP8B_ENST00000397360.2_Intron NM_001720.3 NP_001711.2 P34820 BMP8B_HUMAN bone morphogenetic protein 8b 242 cartilage development|cell differentiation|growth|ossification extracellular space cytokine activity|growth factor activity endometrium(1)|liver(1)|ovary(1)|urinary_tract(1) 4 all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) CTGTTGGGAGCGTGGGGCCCG 0.657000 17 115 0 0 1 0 0 PALLD 23022 broad.mit.edu 37 4 169632741 169632741 + Missense_Mutation SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:169632741A>T ENST00000335742.7 + 10 1842 c.485A>T c.(484-486)gAa>gTa p.E162V PALLD_ENST00000505667.1_Missense_Mutation_p.E544V|PALLD_ENST00000512127.1_Missense_Mutation_p.E162V|PALLD_ENST00000261509.6_Missense_Mutation_p.E544V Q8WX93 PALLD_HUMAN palladin, cytoskeletal associated protein 544 cytoskeleton organization actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere actin binding|muscle alpha-actinin binding breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4) 48 Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144) GBM - Glioblastoma multiforme(119;0.204) GCCAACACTGAAAACTGTAGT 0.448000 Pancreatic Cancer, Familial Clustering of 14 46 0 0 1 0 0 KRTAP10-10 353333 broad.mit.edu 37 21 46057661 46057661 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr21:46057661T>C ENST00000380095.1 + 1 389 c.327T>C c.(325-327)tgT>tgC p.C109C TSPEAR_ENST00000323084.4_Intron NM_181688.1 NP_859016.1 P60014 KR10A_HUMAN keratin associated protein 10-10 109 15 X 5 AA repeats of C-C-X(3). keratin filament NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2) 13 tgcccgtctgtaacaagcctg 0.632000 59 195 0 0 1 0 0 SLC25A21 89874 broad.mit.edu 37 14 37153064 37153064 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:37153064G>A ENST00000331299.5 - 9 1322 c.807C>T c.(805-807)ggC>ggT p.G269G SLC25A21_ENST00000555449.1_Silent_p.G269G NM_030631.3 NP_085134.1 Q9BQT8 ODC_HUMAN solute carrier family 25 (mitochondrial oxoadipate carrier), member 21 269 lysine catabolic process integral to membrane|mitochondrial inner membrane alpha-ketoglutarate transmembrane transporter activity|binding NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1) 9 Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213) Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149) GBM - Glioblastoma multiforme(112;0.00204) TGGGAAGCAGGCCTTTGTACA 0.343000 6 28 0 0 1 0 0 GLCE 26035 broad.mit.edu 37 15 69548582 69548582 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:69548582A>G ENST00000261858.2 + 3 665 c.437A>G c.(436-438)tAt>tGt p.Y146C GLCE_ENST00000559420.2_Missense_Mutation_p.Y82C NM_015554.1 NP_056369.1 O94923 GLCE_HUMAN glucuronic acid epimerase 146 heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process Golgi membrane|integral to membrane UDP-glucuronate 5'-epimerase activity NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 18 GTGGTTCAGTATGATGGCTAT 0.423000 76 230 0 0 1 0 0 ASB10 136371 broad.mit.edu 37 7 150878067 150878067 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:150878067T>C ENST00000422024.1 - 3 1323 c.1198A>G c.(1198-1200)Aac>Gac p.N400D ASB10_ENST00000420175.2_Missense_Mutation_p.N355D|ASB10_ENST00000275838.1_Missense_Mutation_p.N355D|ASB10_ENST00000377867.3_Missense_Mutation_p.N340D|ASB10_ENST00000434669.1_Missense_Mutation_p.N400D NM_001142459.1 NP_001135931.2 Q8WXI3 ASB10_HUMAN ankyrin repeat and SOCS box containing 10 355 intracellular signal transduction NS(1)|endometrium(2)|lung(7)|skin(2) 12 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GCGCCATGGTTGAGCAGAGCC 0.697000 7 25 0 0 1 0 0 PRDM13 59336 broad.mit.edu 37 6 100062519 100062519 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:100062519C>T ENST00000369214.1 + 4 2299 c.2038C>T c.(2038-2040)Ccc>Tcc p.P680S PRDM13_ENST00000369215.4_Missense_Mutation_p.P670S NM_021620.3 NP_067633.2 Q9H4Q3 PRD13_HUMAN PR domain containing 13 670 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1) 17 all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186) BRCA - Breast invasive adenocarcinoma(108;0.0598) GGGTGCCGAGCCCGGCTATCC 0.697000 18 55 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110437463 110437463 + Splice_Site SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:110437463T>C ENST00000378402.5 + 24 2949 c.e24+2 NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TTCTTAAAGGTATATGAAAAA 0.313000 HNSCC(38;0.096) 4 36 0 0 1 0 0 NOS1 4842 broad.mit.edu 37 12 117655920 117655920 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:117655920T>C ENST00000317775.6 - 28 4905 c.4220A>G c.(4219-4221)tAc>tGc p.Y1407C NOS1_ENST00000338101.4_Missense_Mutation_p.Y1441C|NOS1_ENST00000344089.3_3'UTR NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 1407 Y -> I (in Ref. 3; AAA36376). multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) GGTCACTTCGTACGTTCGCAG 0.483000 11 648 0 0 1 0 0 G6PC2 57818 broad.mit.edu 37 2 169764399 169764399 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:169764399G>A ENST00000375363.3 + 5 970 c.878G>A c.(877-879)cGg>cAg p.R293Q SPC25_ENST00000472216.2_Intron|G6PC2_ENST00000461586.1_3'UTR NM_021176.2 NP_066999.1 Q9NQR9 G6PC2_HUMAN glucose-6-phosphatase, catalytic, 2 293 gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport endoplasmic reticulum membrane|integral to membrane glucose-6-phosphatase activity breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2) 13 CTGAGCTTCCGGTTGCTCTGT 0.483000 8 204 0 0 1 0 0 EPHA1 2041 broad.mit.edu 37 7 143088755 143088755 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:143088755G>A ENST00000275815.3 - 17 2896 c.2810C>T c.(2809-2811)gCt>gTt p.A937V NM_005232.4 NP_005223.4 P21709 EPHA1_HUMAN EPH receptor A1 937 SAM. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3) 51 Melanoma(164;0.205) Myeloproliferative disorder(862;0.0255) GTCCAGCCCAGCCGAGTGGAA 0.622000 17 56 0 0 1 0 0 FHDC1 85462 broad.mit.edu 37 4 153897502 153897502 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:153897502C>T ENST00000511601.1 + 12 3247 c.3059C>T c.(3058-3060)cCg>cTg p.P1020L FHDC1_ENST00000260008.3_Missense_Mutation_p.P1020L Q9C0D6 FHDC1_HUMAN FH2 domain containing 1 1020 actin cytoskeleton organization actin binding ARFIP1/FHDC1(2) NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 43 all_hematologic(180;0.093) CCCAAGACCCCGTCAGTGCCC 0.607000 28 112 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124311303 124311303 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:124311303G>A ENST00000409039.3 + 24 3920 c.3895G>A c.(3895-3897)Gaa>Aaa p.E1299K NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 1299 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) GGAAGGAATTGAAGGTTTTCT 0.468000 31 189 0 0 1 0 0 BTBD2 55643 broad.mit.edu 37 19 1986864 1986864 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:1986864G>A ENST00000255608.4 - 8 1397 c.1381C>T c.(1381-1383)Ccc>Tcc p.P461S NM_017797.3 NP_060267.2 Q9BX70 BTBD2_HUMAN BTB (POZ) domain containing 2 461 cytoplasmic mRNA processing body protein binding endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1) 12 Ovarian(11;2.11e-07)|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) TTGACGTTGGGCAGCACCTCC 0.662000 32 70 0 0 1 0 0 MMP16 4325 broad.mit.edu 37 8 89053770 89053770 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:89053770A>G ENST00000286614.6 - 10 2024 c.1743T>C c.(1741-1743)gtT>gtC p.V581V NM_005941.4 NP_005932.2 P51512 MMP16_HUMAN matrix metallopeptidase 16 (membrane-inserted) 581 collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 81 ACACAGTGTAAACCAATACAA 0.448000 35 131 0 0 1 0 0 RS1 6247 broad.mit.edu 37 X 18660262 18660262 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chrX:18660262G>A ENST00000379984.3 - 6 577 c.537C>T c.(535-537)aaC>aaT p.N179N RS1_ENST00000476595.1_5'UTR|CDKL5_ENST00000379989.3_Intron|CDKL5_ENST00000379996.3_Intron NM_000330.3 NP_000321.1 O15537 XLRS1_HUMAN retinoschisin 1 179 F5/8 type C. cell adhesion|multicellular organismal development|response to stimulus|visual perception extracellular space cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1) 15 Hepatocellular(33;0.183) TGCGGTCCGAGTTGCCATAGA 0.577000 7 63 0 0 1 0 0 ZNF594 84622 broad.mit.edu 37 17 5087489 5087489 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:5087489G>A ENST00000399604.4 - 1 203 c.63C>T c.(61-63)tcC>tcT p.S21S ZNF594_ENST00000575779.1_Silent_p.S21S Q96JF6 ZN594_HUMAN zinc finger protein 594 21 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 GGAGTTTTTCGGATGCAGCCC 0.383000 25 57 0 0 1 0 0 TM9SF3 56889 broad.mit.edu 37 10 98282044 98282044 + Missense_Mutation SNP G G C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:98282044G>C ENST00000371142.4 - 15 1962 c.1746C>G c.(1744-1746)atC>atG p.I582M NM_020123.3 NP_064508.3 Q9HD45 TM9S3_HUMAN transmembrane 9 superfamily member 3 582 integral to membrane binding breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1) 15 Colorectal(252;0.158) Epithelial(162;1.84e-09)|all cancers(201;2.84e-08) CATTAGTATAGATTTTTCGGA 0.358000 12 61 0 0 1 0 0 CLEC1B 51266 broad.mit.edu 37 12 10151636 10151636 + Splice_Site SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:10151636C>T ENST00000428126.2 - 3 333 c.64_splice c.e3+1 p.A22_splice CLEC1B_ENST00000348658.4_Splice_Site_p.A22_splice|CLEC1B_ENST00000298527.6_Splice_Site_p.V22_splice Q9P126 CLC1B_HUMAN C-type lectin domain family 1, member B 55 cell surface receptor linked signaling pathway|defense response integral to plasma membrane protein binding|sugar binding|transmembrane receptor activity NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(12)|stomach(1)|urinary_tract(1) 19 GCATTCTTACCGGAGATGAGA 0.333000 5 230 0 0 1 0 0 GPR176 11245 broad.mit.edu 37 15 40094085 40094085 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:40094085C>T ENST00000299092.3 - 4 991 c.793G>A c.(793-795)Gcc>Acc p.A265T GPR176_ENST00000543580.1_Missense_Mutation_p.A221T|GPR176_ENST00000561100.1_Missense_Mutation_p.A266T|GPR176_ENST00000560729.1_5'UTR NM_001271854.1|NM_001271855.1 NP_001258783.1|NP_001258784.1 Q14439 GP176_HUMAN G protein-coupled receptor 176 266 synaptic transmission integral to plasma membrane G-protein coupled receptor activity central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2) 23 all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123) AGCAGGGTGGCGTGCAGCTCG 0.582000 OREG0023053 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 110 0 0 1 0 0 ASPH 444 broad.mit.edu 37 8 62546280 62546280 + Missense_Mutation SNP C C T rs111708484 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:62546280C>T ENST00000541428.1 - 13 969 c.809G>A c.(808-810)aGc>aAc p.S270N ASPH_ENST00000522919.1_Missense_Mutation_p.S112N|ASPH_ENST00000517847.2_Missense_Mutation_p.S285N|ASPH_ENST00000517903.1_Missense_Mutation_p.S284N|ASPH_ENST00000522835.1_Missense_Mutation_p.S242N|ASPH_ENST00000518068.1_Missense_Mutation_p.S256N|ASPH_ENST00000356457.5_Missense_Mutation_p.S299N|ASPH_ENST00000445642.3_Missense_Mutation_p.S285N|ASPH_ENST00000523897.1_5'UTR|ASPH_ENST00000379454.4_Missense_Mutation_p.S299N NM_001164750.1 NP_001158222.1 Q12797 ASPH_HUMAN aspartate beta-hydroxylase 299 Glu-rich. muscle contraction integral to endoplasmic reticulum membrane calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 Lung SC(2;0.153) Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101) L-Aspartic Acid(DB00128)|Succinic acid(DB00139) AGGAAAAATGCTTACTTCTAA 0.289000 5 43 0 0 1 0 0 FAM71F2 346653 broad.mit.edu 37 7 128315777 128315777 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:128315777G>A ENST00000480462.1 + 2 335 c.229G>A c.(229-231)Gtg>Atg p.V77M FAM71F2_ENST00000477515.1_Missense_Mutation_p.V77M|FAM71F2_ENST00000378704.3_Missense_Mutation_p.V68M|FAM71F2_ENST00000460349.1_3'UTR Q6NXP2 F71F2_HUMAN family with sequence similarity 71, member F2 77 NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(2) 7 GTCTGCCACCGTGATCCTCGG 0.582000 18 39 0 0 1 0 0 LDHAL6B 92483 broad.mit.edu 37 15 59499756 59499756 + Missense_Mutation SNP G G A rs151212931 byFrequency TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:59499756G>A ENST00000307144.4 + 1 715 c.617G>A c.(616-618)cGt>cAt p.R206H MYO1E_ENST00000288235.4_Intron NM_033195.2 NP_149972.1 Q9BYZ2 LDH6B_HUMAN lactate dehydrogenase A-like 6B 206 glycolysis cytoplasm L-lactate dehydrogenase activity|protein binding endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1) 10 NADH(DB00157) CCCAAAAACCGTATTATTGGA 0.423000 66 131 0 0 1 0 0 SLC27A5 10998 broad.mit.edu 37 19 59022657 59022657 + Silent SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:59022657G>T ENST00000263093.2 - 1 775 c.666C>A c.(664-666)gcC>gcA p.A222A SLC27A5_ENST00000601355.1_Intron NM_012254.2 NP_036386.1 Q9Y2P5 S27A5_HUMAN solute carrier family 27 (fatty acid transporter), member 5 222 bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process endoplasmic reticulum membrane|integral to membrane ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 19 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181) CCAGCACCCGGGCCCCAGAGC 0.672000 21 37 3.6726e-16 3.85282e-16 1 1 0 A2ML1 144568 broad.mit.edu 37 12 8975929 8975929 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:8975929A>G ENST00000299698.7 + 2 394 c.214A>G c.(214-216)Aag>Gag p.K72E A2ML1-AS1_ENST00000537288.1_RNA NM_144670.4 NP_653271.2 B3KVV6 B3KVV6_HUMAN alpha-2-macroglobulin-like 1 0 extracellular space endopeptidase inhibitor activity NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 80 CTCTGGACTGAAGAAGAGGCA 0.463000 19 89 0 0 1 0 0 PIWIL3 440822 broad.mit.edu 37 22 25130079 25130079 + Missense_Mutation SNP C C T rs149915066 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr22:25130079C>T ENST00000332271.5 - 14 2095 c.1679G>A c.(1678-1680)cGg>cAg p.R560Q PIWIL3_ENST00000533313.1_Missense_Mutation_p.R451Q|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Missense_Mutation_p.R451Q NM_001008496.3|NM_001255975.1 NP_001008496.2|NP_001242904.1 Q7Z3Z3 PIWL3_HUMAN piwi-like RNA-mediated gene silencing 3 560 cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis cytoplasm RNA binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 AGTATATTTCCGTAATGTGTC 0.328000 12 32 0 0 1 0 0 RGS22 26166 broad.mit.edu 37 8 101084391 101084391 + Missense_Mutation SNP T T A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:101084391T>A ENST00000360863.6 - 5 601 c.407A>T c.(406-408)gAt>gTt p.D136V RGS22_ENST00000523437.1_Missense_Mutation_p.D136V|RGS22_ENST00000523287.1_Intron NM_015668.3 NP_056483.3 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 136 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity RGS22/SYCP1(2) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) AAAGTAACAATCACTTTCCAG 0.338000 14 73 0 0 1 0 0 SLC43A2 124935 broad.mit.edu 37 17 1518310 1518310 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:1518310G>A ENST00000571650.1 - 4 693 c.387C>T c.(385-387)tcC>tcT p.S129S SLC43A2_ENST00000301335.4_Silent_p.S129S|SLC43A2_ENST00000382147.4_Silent_p.S129S Q8N370 LAT4_HUMAN solute carrier family 43 (amino acid system L transporter), member 2 129 cellular nitrogen compound metabolic process|ion transport integral to membrane|plasma membrane endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1) 12 UCEC - Uterine corpus endometrioid carcinoma (25;0.0883) TCAGCAAGCAGGAAACCGCGA 0.468000 9 42 0 0 1 0 0 ARHGAP39 80728 broad.mit.edu 37 8 145773100 145773100 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:145773100C>T ENST00000276826.5 - 4 1571 c.1370G>A c.(1369-1371)cGg>cAg p.R457Q ARHGAP39_ENST00000377307.2_Missense_Mutation_p.R457Q|ARHGAP39_ENST00000540274.1_Missense_Mutation_p.R457Q Q9C0H5 RHG39_HUMAN Rho GTPase activating protein 39 457 axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|nucleus GTPase activator activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 CTGGCTGTGCCGCAGCTCAGG 0.687000 7 22 0 0 1 0 0 FBN2 2201 broad.mit.edu 37 5 127647003 127647003 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:127647003C>T ENST00000508053.1 - 45 6037 c.5063G>A c.(5062-5064)cGc>cAc p.R1688H FBN2_ENST00000262464.4_Missense_Mutation_p.R1688H P35556 FBN2_HUMAN fibrillin 2 1688 EGF-like 27; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) TTCACAGATGCGGGTATCCTC 0.502000 8 44 0 0 1 0 0 DIDO1 11083 broad.mit.edu 37 20 61513014 61513014 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:61513014T>C ENST00000266070.4 - 16 4619 c.4294A>G c.(4294-4296)Acc>Gcc p.T1432A DIDO1_ENST00000395343.1_Missense_Mutation_p.T1432A NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 1432 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) TCTAAGATGGTCTCATCCTCG 0.617000 8 269 0 0 1 0 0 ANKH 56172 broad.mit.edu 37 5 14756037 14756037 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:14756037C>T ENST00000284268.6 - 4 779 c.449G>A c.(448-450)gGc>gAc p.G150D NM_054027.4 NP_473368.1 Q9HCJ1 ANKH_HUMAN ANKH inorganic pyrophosphate transport regulator 150 locomotory behavior|regulation of bone mineralization|skeletal system development integral to plasma membrane|outer membrane inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 29 TAAGAGAATGCCAGCATGGGT 0.438000 4 76 0 0 1 0 0 KIAA1109 84162 broad.mit.edu 37 4 123195575 123195575 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:123195575A>G ENST00000264501.4 + 49 8897 c.8524A>G c.(8524-8526)Att>Gtt p.I2842V KIAA1109_ENST00000455637.1_Missense_Mutation_p.I2842V|KIAA1109_ENST00000388738.3_Missense_Mutation_p.I2842V Q2LD37 K1109_HUMAN KIAA1109 2842 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 GCTTGAAGGGATTACACCAAA 0.299000 14 62 0 0 1 0 0 IFNA2 3440 broad.mit.edu 37 9 21385105 21385105 + Missense_Mutation SNP G G C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:21385105G>C ENST00000380206.2 - 1 291 c.224C>G c.(223-225)aCc>aGc p.T75S NM_000605.3 NP_000596.2 P01563 IFNA2_HUMAN interferon, alpha 2 75 blood coagulation|cell-cell signaling|induction of apoptosis|inflammatory response|negative regulation of interleukin-13 secretion|negative regulation of interleukin-5 secretion|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of transcription, DNA-dependent|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding breast(2)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1) 13 Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173) Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022) GACAGGGATGGTTTCAGCCTT 0.478000 6 211 0 0 1 0 0 CLUAP1 23059 broad.mit.edu 37 16 3554830 3554830 + Splice_Site SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:3554830A>G ENST00000571025.1 + 2 183 c.134_splice c.e2+1 p.R45_splice LA16c-306E5.3_ENST00000574423.2_RNA|CLUAP1_ENST00000417763.2_5'UTR|CLUAP1_ENST00000341633.5_Splice_Site_p.R45_splice|CLUAP1_ENST00000576634.1_Splice_Site_p.R45_splice Q96AJ1 CLUA1_HUMAN clusterin associated protein 1 45 nucleus protein binding breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(2) 16 GCTTGTGAAAAGGTTCGAACG 0.408000 10 43 0 0 1 0 0 IL17RA 23765 broad.mit.edu 37 22 17589746 17589746 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr22:17589746G>A ENST00000319363.6 + 13 1770 c.1637G>A c.(1636-1638)cGc>cAc p.R546H NM_014339.5 NP_055154.3 Q96F46 I17RA_HUMAN interleukin 17 receptor A 546 fibroblast activation|positive regulation of interleukin-23 production integral to plasma membrane interleukin-17 receptor activity endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1) 30 all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132) Colorectal(9;0.241) CAGCCGGGCCGCATGCACCGC 0.706000 4 10 0 0 1 0 0 CCND2 894 broad.mit.edu 37 12 4398027 4398027 + Nonsense_Mutation SNP C C G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:4398027C>G ENST00000261254.3 + 4 860 c.591C>G c.(589-591)taC>taG p.Y197* NM_001759.3 NP_001750.1 P30279 CCND2_HUMAN cyclin D2 197 cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus protein kinase binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 17 all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206) TTGCCATGTACCCACCGTCGA 0.542000 T IGL@ """NHL,CLL""" 49 201 0 0 1 0 0 AGO4 192670 broad.mit.edu 37 1 36316458 36316458 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:36316458A>G ENST00000373210.3 + 17 2526 c.2281A>G c.(2281-2283)Acc>Gcc p.T761A AGO4_ENST00000488778.1_3'UTR NM_017629.3 NP_060099.2 argonaute RISC catalytic component 4 TCCTCAGGGAACCAGCCGTCC 0.403000 29 72 0 0 1 0 0 JPH1 56704 broad.mit.edu 37 8 75227813 75227813 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:75227813T>C ENST00000342232.4 - 2 462 c.422A>G c.(421-423)tAc>tGc p.Y141C NM_020647.2 NP_065698.1 Q9HDC5 JPH1_HUMAN junctophilin 1 141 Gly-rich. calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 24 Breast(64;0.00576) BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176) GCGCACGCCGTAGCCATGCCG 0.682000 12 52 0 0 1 0 0 OR4K14 122740 broad.mit.edu 37 14 20482639 20482639 + Silent SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:20482639G>T ENST00000305045.2 - 1 713 c.714C>A c.(712-714)ctC>ctA p.L238L NM_001004712.1 NP_001004712.1 Q8NGD5 OR4KE_HUMAN olfactory receptor, family 4, subfamily K, member 14 238 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6) 37 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2e-06) GBM - Glioblastoma multiforme(265;0.00124) AGCAAGTGGAGAGTGCTTTGG 0.512000 13 49 5.50884e-06 5.63245e-06 1 1 0 PLK1 5347 broad.mit.edu 37 16 23701352 23701352 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:23701352C>T ENST00000300093.4 + 10 1891 c.1780C>T c.(1780-1782)Cgc>Tgc p.R594C NM_005030.3 NP_005021.2 P53350 PLK1_HUMAN polo-like kinase 1 594 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 GBM - Glioblastoma multiforme(48;0.0156) GCTGAGCTCACGCTCGGCCAG 0.647000 22 59 0 0 1 0 0 NFATC2 4773 broad.mit.edu 37 20 50139950 50139950 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:50139950G>A ENST00000371564.3 - 2 1049 c.830C>T c.(829-831)cCg>cTg p.P277L NFATC2_ENST00000396009.3_Missense_Mutation_p.P277L|NFATC2_ENST00000414705.1_Missense_Mutation_p.P257L NM_001258296.1|NM_012340.4 NP_001245225.1|NP_036472.2 Q13469 NFAC2_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 277 3 X approximate SP repeats. B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity EWSR1/NFATC2(9) breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 53 Hepatocellular(150;0.248) TGAGGGCTGCGGCGAGGGGCT 0.711000 7 27 0 0 1 0 0 BTBD8 284697 broad.mit.edu 37 1 92568216 92568216 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:92568216C>T ENST00000370382.3 + 3 801 c.534C>T c.(532-534)ttC>ttT p.F178F BTBD8_ENST00000540648.1_Silent_p.F178F|BTBD8_ENST00000342818.3_Silent_p.F178F Q5XKL5 BTBD8_HUMAN BTB (POZ) domain containing 8 178 nucleus breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1) 16 all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222) all cancers(265;0.0153)|Epithelial(280;0.0982) ATGATGATTTCATTTCCAATG 0.323000 12 49 0 0 1 0 0 HSPA9 3313 broad.mit.edu 37 5 137902705 137902705 + Missense_Mutation SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:137902705C>A ENST00000297185.3 - 8 989 c.864G>T c.(862-864)aaG>aaT p.K288N NM_004134.6 NP_004125.3 P38646 GRP75_HUMAN heat shock 70kDa protein 9 (mortalin) 288 anti-apoptosis|protein folding cell surface|mitochondrial nucleoid ATP binding|unfolded protein binding breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1) 28 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) TCTTGAACTCCTTCACAATGT 0.413000 47 168 1.83081e-24 1.93732e-24 1 1 0 RAB11FIP3 9727 broad.mit.edu 37 16 570491 570491 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:570491G>A ENST00000262305.4 + 13 2437 c.2049G>A c.(2047-2049)gaG>gaA p.E683E RAB11FIP3_ENST00000457159.1_Silent_p.E728E|RAB11FIP3_ENST00000450428.1_Silent_p.E387E NM_014700.3 NP_055515.1 O75154 RFIP3_HUMAN RAB11 family interacting protein 3 (class II) 683 cell cycle|cytokinesis|endocytic recycling|protein transport centrosome|cleavage furrow|midbody|recycling endosome membrane ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1) 12 Hepatocellular(16;0.0218) AGAACGAGGAGCTGAACGGGC 0.602000 5 115 0 0 1 0 0 EML5 161436 broad.mit.edu 37 14 89087643 89087643 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:89087643G>A ENST00000554922.1 - 38 5264 c.5016C>T c.(5014-5016)ggC>ggT p.G1672G EML5_ENST00000553320.1_5'UTR|EML5_ENST00000380664.5_Silent_p.G1664G|EML5_ENST00000352093.5_Silent_p.G1626G NM_183387.2 NP_899243.1 Q05BV3 EMAL5_HUMAN echinoderm microtubule associated protein like 5 1664 cytoplasm|microtubule breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 CAAGGATCTTGCCCTGAAACA 0.388000 49 140 0 0 1 0 0 ARHGAP33 115703 broad.mit.edu 37 19 36271695 36271695 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:36271695A>G ENST00000007510.4 + 10 950 c.806A>G c.(805-807)cAg>cGg p.Q269R ARHGAP33_ENST00000378944.5_Missense_Mutation_p.Q133R|ARHGAP33_ENST00000314737.5_Missense_Mutation_p.Q269R O14559 RHG33_HUMAN Rho GTPase activating protein 33 269 cell communication|protein transport|signal transduction intracellular GTPase activator activity|phosphatidylinositol binding|protein binding endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 37 CCGGCTCCCCAGGGTATCTCG 0.627000 31 115 0 0 1 0 0 DET1 55070 broad.mit.edu 37 15 89073994 89073994 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:89073994C>T ENST00000564406.1 - 3 1136 c.976G>A c.(976-978)Gcc>Acc p.A326T DET1_ENST00000268148.8_Missense_Mutation_p.A315T|DET1_ENST00000444300.1_Missense_Mutation_p.A326T NM_017996.3 NP_060466.2 Q7L5Y6 DET1_HUMAN de-etiolated homolog 1 (Arabidopsis) 315 nucleus endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Lung NSC(78;0.105)|all_lung(78;0.182) BRCA - Breast invasive adenocarcinoma(143;0.188) CGCCTCTTGGCCATTGCACTA 0.493000 6 27 0 0 1 0 0 ELMO2 63916 broad.mit.edu 37 20 45022217 45022217 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:45022217T>C ENST00000290246.6 - 5 337 c.143A>G c.(142-144)tAt>tGt p.Y48C ELMO2_ENST00000372176.1_5'UTR|ELMO2_ENST00000488853.1_5'UTR|ELMO2_ENST00000352077.2_Missense_Mutation_p.Y48C|ELMO2_ENST00000396391.1_Missense_Mutation_p.Y48C|ELMO2_ENST00000445496.2_5'UTR|ELMO2_ENST00000439931.2_Missense_Mutation_p.Y48C NM_133171.3 NP_573403.1 Q96JJ3 ELMO2_HUMAN engulfment and cell motility 2 48 apoptosis|cell chemotaxis|phagocytosis cytoskeleton|cytosol|membrane lyase activity|receptor tyrosine kinase binding|SH3 domain binding breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1) 16 Myeloproliferative disorder(115;0.0122) GAGGGTATAATACTCTGGGTT 0.438000 86 237 0 0 1 0 0 GALNT18 374378 broad.mit.edu 37 11 11398738 11398738 + Missense_Mutation SNP G G A rs146816102 byFrequency TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:11398738G>A ENST00000227756.4 - 5 1379 c.968C>T c.(967-969)gCg>gTg p.A323V NM_198516.2 NP_940918.2 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18 CCTGATTGGCGCTGTGGAGTT 0.567000 25 61 0 0 1 0 0 PDXK 8566 broad.mit.edu 37 21 45168916 45168916 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr21:45168916T>C ENST00000291565.4 + 6 602 c.419T>C c.(418-420)gTg>gCg p.V140A PDXK_ENST00000468090.1_Missense_Mutation_p.V112A|PDXK_ENST00000467908.1_Missense_Mutation_p.V100A NM_003681.4 NP_003672.1 O00764 PDXK_HUMAN pyridoxal (pyridoxine, vitamin B6) kinase 140 cell proliferation|pyridoxal 5'-phosphate salvage cytosol ATP binding|lithium ion binding|magnesium ion binding|potassium ion binding|protein homodimerization activity|pyridoxal kinase activity|pyridoxal phosphate binding|sodium ion binding|zinc ion binding endometrium(1)|lung(2)|ovary(1)|urinary_tract(1) 5 Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18) Pyridoxal(DB00147)|Pyridoxine(DB00165) AAAGAAAAAGTGGTGCCGCTT 0.483000 9 99 0 0 1 0 0 DIS3L2 129563 broad.mit.edu 37 2 233001426 233001426 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:233001426T>C ENST00000325385.7 + 8 1223 c.947T>C c.(946-948)cTg>cCg p.L316P DIS3L2_ENST00000273009.6_Missense_Mutation_p.L316P|DIS3L2_ENST00000409307.1_Missense_Mutation_p.L316P|DIS3L2_ENST00000360410.4_Missense_Mutation_p.W336R NM_152383.4 NP_689596.4 Q8IYB7 DI3L2_HUMAN DIS3 mitotic control homolog (S. cerevisiae)-like 2 316 exonuclease activity|ribonuclease activity|RNA binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1) 40 all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136) Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149) AATTTTGCCCTGGGGTAGGTG 0.448000 25 87 0 0 1 0 0 C16orf62 57020 broad.mit.edu 37 16 19576215 19576215 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:19576215C>T ENST00000438132.3 + 2 375 c.327C>T c.(325-327)tgC>tgT p.C109C C16orf62_ENST00000417362.2_Silent_p.C20C|C16orf62_ENST00000538853.1_Silent_p.C109C|C16orf62_ENST00000251143.5_Silent_p.C20C|C16orf62_ENST00000542263.1_Silent_p.C109C NM_020314.5 NP_064710.4 Q7Z3J2 CP062_HUMAN chromosome 16 open reading frame 62 20 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 36 TTGCATCATGCCGACTGGAGG 0.428000 17 48 0 0 1 0 0 NEGR1 257194 broad.mit.edu 37 1 72163772 72163772 + Missense_Mutation SNP C C T rs148707586 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:72163772C>T ENST00000357731.4 - 4 825 c.586G>A c.(586-588)Gac>Aac p.D196N NEGR1_ENST00000306821.3_Missense_Mutation_p.D68N|NEGR1_ENST00000467479.1_5'UTR|NEGR1_ENST00000434200.1_Intron NM_173808.2 NP_776169.2 Q7Z3B1 NEGR1_HUMAN neuronal growth regulator 1 196 Ig-like C2-type 2. cell adhesion anchored to membrane|plasma membrane endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117) KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242) CCAGCCTGGTCCCTTGTAATT 0.378000 7 37 0 0 1 0 0 CEP57 9702 broad.mit.edu 37 11 95546694 95546694 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:95546694T>C ENST00000325542.5 + 4 683 c.445T>C c.(445-447)Tac>Cac p.Y149H CEP57_ENST00000541150.1_Missense_Mutation_p.Y140H|CEP57_ENST00000537677.1_Missense_Mutation_p.Y122H|CEP57_ENST00000325486.5_Missense_Mutation_p.Y149H|CEP57_ENST00000536587.1_3'UTR|CEP57_ENST00000538658.1_Missense_Mutation_p.Y149H NM_001243776.1|NM_014679.4 NP_001230705.1|NP_055494.2 Q86XR8 CEP57_HUMAN centrosomal protein 57kDa 149 centrosome localization domain (CLD) (By similarity). fibroblast growth factor receptor signaling pathway|G2/M transition of mitotic cell cycle|protein import into nucleus, translocation|spermatid development centrosome|cytosol|Golgi apparatus|microtubule|nucleus fibroblast growth factor binding|protein homodimerization activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 13 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) ACAATTGGAATACATGCGAAA 0.338000 Mosaic Variegated Aneuploidy Syndrome 10 41 0 0 1 0 0 TXNDC9 10190 broad.mit.edu 37 2 99949571 99949571 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:99949571T>C ENST00000264255.3 - 2 358 c.103A>G c.(103-105)Aaa>Gaa p.K35E TXNDC9_ENST00000409434.1_Missense_Mutation_p.K35E NM_005783.3 NP_005774.2 O14530 TXND9_HUMAN thioredoxin domain containing 9 35 cell redox homeostasis protein binding lung(1) 1 TGATCCAGTTTTTGAATTTCA 0.438000 9 88 0 0 1 0 0 GUCY2C 2984 broad.mit.edu 37 12 14781658 14781658 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:14781658A>G ENST00000261170.3 - 20 2307 c.2171T>C c.(2170-2172)gTa>gCa p.V724A NM_004963.3 NP_004954.2 P25092 GUC2C_HUMAN guanylate cyclase 2C (heat stable enterotoxin receptor) 724 Protein kinase. intracellular signal transduction|receptor guanylyl cyclase signaling pathway integral to membrane ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1) 51 ACAGTTTTTTACAAGTAGGTA 0.348000 25 77 0 0 1 0 0 CMYA5 202333 broad.mit.edu 37 5 79054654 79054654 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:79054654A>G ENST00000446378.2 + 7 11220 c.11189A>G c.(11188-11190)aAc>aGc p.N3730S CMYA5_ENST00000505466.1_3'UTR NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 3730 Fibronectin type-III 1. perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) TGGAGCATGAACAAGGAAGAT 0.393000 26 77 0 0 1 0 0 CACNA1I 8911 broad.mit.edu 37 22 40080370 40080370 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr22:40080370T>C ENST00000336649.4 + 39 5912 c.5912T>C c.(5911-5913)tTc>tCc p.F1971S CACNA1I_ENST00000402142.3_Missense_Mutation_p.F1965S|CACNA1I_ENST00000401624.1_Missense_Mutation_p.F1965S|CACNA1I_ENST00000400164.3_Missense_Mutation_p.F1930S|CACNA1I_ENST00000404898.1_Missense_Mutation_p.F1930S|CACNA1I_ENST00000407673.1_Missense_Mutation_p.F1930S Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, alpha 1I subunit 1965 axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) GCCGAGTTCTTCCACCCTGCA 0.637000 9 31 0 0 1 0 0 OR52A1 23538 broad.mit.edu 37 11 5172715 5172715 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:5172715A>G ENST00000380367.1 - 2 1302 c.885T>C c.(883-885)taT>taC p.Y295Y OR52A1_ENST00000328942.1_Silent_p.Y295Y Q9UKL2 O52A1_HUMAN olfactory receptor, family 52, subfamily A, member 1 295 sensory perception of smell integral to plasma membrane olfactory receptor activity breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 19 Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCTTTGCACCATAGACAAGTG 0.383000 44 138 0 0 1 0 0 CEACAM5 1048 broad.mit.edu 37 19 42221417 42221417 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:42221417C>T ENST00000221992.6 + 5 1116 c.1002C>T c.(1000-1002)ccC>ccT p.P334P CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000398599.4_Silent_p.P333P|CEACAM5_ENST00000405816.1_Silent_p.P334P NM_004363.2 NP_004354.2 P06731 CEAM5_HUMAN carcinoembryonic antigen-related cell adhesion molecule 5 334 Ig-like 4. anchored to membrane|basolateral plasma membrane|integral to plasma membrane p.P334P(1) breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 34 OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142) ACTCCAACCCCGTGGAGGATG 0.532000 48 141 0 0 1 0 0 MED12 9968 broad.mit.edu 37 X 70349193 70349193 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chrX:70349193C>T ENST00000333646.6 + 26 3804 c.3605C>T c.(3604-3606)tCc>tTc p.S1202F MED12_ENST00000374080.3_Missense_Mutation_p.S1202F|MED12_ENST00000374102.1_Missense_Mutation_p.S1202F NM_005120.2 NP_005111.2 Q93074 MED12_HUMAN mediator complex subunit 12 1202 androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3) 420 Renal(35;0.156) ATCCGCTCCTCCTGCGACCGC 0.567000 """M, S""" uterine leiomyoma Opitz-Kaveggia Syndrome OREG0019857 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 20 0 0 1 0 0 SAMD9L 219285 broad.mit.edu 37 7 92761081 92761081 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:92761081G>A ENST00000318238.4 - 5 5420 c.4204C>T c.(4204-4206)Cca>Tca p.P1402S SAMD9L_ENST00000411955.1_Missense_Mutation_p.P1402S|SAMD9L_ENST00000437805.1_Missense_Mutation_p.P1402S NM_152703.2 NP_689916.2 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 1402 central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 88 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) GTGGTAAGTGGTTGAATTAAC 0.403000 44 185 0 0 1 0 0 PLA2G5 5322 broad.mit.edu 37 1 20416375 20416375 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:20416375C>T ENST00000375108.3 + 4 547 c.279C>T c.(277-279)ggC>ggT p.G93G PLA2G5_ENST00000486277.1_3'UTR NM_000929.2 NP_000920.1 P39877 PA2G5_HUMAN phospholipase A2, group V 93 lipid catabolic process extracellular region calcium ion binding|calcium-dependent phospholipase A2 activity p.G93G(2) NS(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 14 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000249)|Lung NSC(340;0.000287)|Breast(348;0.000812)|Ovarian(437;0.00328)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;8.15e-05)|Kidney(64;0.000184)|GBM - Glioblastoma multiforme(114;0.00089)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0652) TCGCGTGGGGCGTGGTCACCT 0.582000 16 30 0 0 1 0 0 KRT74 121391 broad.mit.edu 37 12 52962046 52962046 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:52962046A>G ENST00000549343.1 - 8 1342 c.1304T>C c.(1303-1305)aTg>aCg p.M435T KRT74_ENST00000305620.2_Missense_Mutation_p.M421T Q7RTS7 K2C74_HUMAN keratin 74 421 Coil 2.|Rod. keratin filament structural molecule activity kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 BRCA - Breast invasive adenocarcinoma(357;0.191) CTCGCGCAGCATCCGCGCCAG 0.647000 31 139 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124285853 124285853 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:124285853T>C ENST00000409039.3 + 15 2159 c.2134T>C c.(2134-2136)Ttg>Ctg p.L712L NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 712 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) ACAGCGCATGTTGGATCATTA 0.463000 58 255 0 0 1 0 0 FOXQ1 94234 broad.mit.edu 37 6 1313290 1313290 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:1313290G>A ENST00000296839.2 + 1 616 c.351G>A c.(349-351)cgG>cgA p.R117R NM_033260.3 NP_150285.3 Q9C009 FOXQ1_HUMAN forkhead box Q1 117 DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding lung(1)|urinary_tract(1) 2 Ovarian(93;0.0733) Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18) ATACGCGGCGGCCCAAGCCCC 0.746000 17 34 0 0 1 0 0 AGBL2 79841 broad.mit.edu 37 11 47732033 47732033 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:47732033G>A ENST00000525123.1 - 4 413 c.128C>T c.(127-129)aCg>aTg p.T43M AGBL2_ENST00000357610.3_Missense_Mutation_p.T43M|AGBL2_ENST00000298861.4_Missense_Mutation_p.T43M|AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000528244.1_Missense_Mutation_p.T43M NM_024783.3 NP_079059.2 Q5U5Z8 CBPC2_HUMAN ATP/GTP binding protein-like 2 43 proteolysis cytosol metallocarboxypeptidase activity|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1) 34 ATGCTGATGCGTAGCAGAGTT 0.433000 25 80 0 0 1 0 0 KLHL42 57542 broad.mit.edu 37 12 27950995 27950995 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:27950995T>C ENST00000381271.2 + 3 1725 c.1414T>C c.(1414-1416)Tac>Cac p.Y472H NM_020782.1 NP_065833.1 kelch-like family member 42 GTTCCTCAAGTACAACATCTT 0.463000 24 80 0 0 1 0 0 PPP2R2A 5520 broad.mit.edu 37 8 26220330 26220330 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:26220330G>A ENST00000380737.3 + 7 1097 c.768G>A c.(766-768)atG>atA p.M256I PPP2R2A_ENST00000315985.7_Missense_Mutation_p.M266I NM_002717.3 NP_002708.1 protein phosphatase 2, regulatory subunit B, alpha p.M256I(2) kidney(1)|large_intestine(2)|ovary(1) 4 all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155) TATGTGACATGAGGGCATCTG 0.373000 8 44 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7586071 7586071 + Missense_Mutation SNP C C G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:7586071C>G ENST00000379802.3 + 24 8917 c.8576C>G c.(8575-8577)tCt>tGt p.S2859C DSP_ENST00000418664.2_Missense_Mutation_p.S2260C NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 2859 Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) TCTTCCTACTCTTATTCCTAC 0.507000 41 128 0 0 1 0 0 MOV10L1 54456 broad.mit.edu 37 22 50599150 50599150 + Nonsense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr22:50599150C>T ENST00000262794.5 + 25 3441 c.3358C>T c.(3358-3360)Cga>Tga p.R1120* MOV10L1_ENST00000545383.1_Nonsense_Mutation_p.R1120*|MOV10L1_ENST00000540615.1_Nonsense_Mutation_p.R1100*|MOV10L1_ENST00000395852.1_Nonsense_Mutation_p.R247*|MOV10L1_ENST00000395858.3_Intron NM_018995.2 NP_061868.1 Q9BXT6 M10L1_HUMAN Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) 1120 germ cell development|multicellular organismal development|spermatogenesis ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3) 67 all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114) LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24) TGAAGATGATCGATATTTTTT 0.393000 19 54 0 0 1 0 0 GTF2F2 2963 broad.mit.edu 37 13 45710869 45710869 + Splice_Site SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr13:45710869T>C ENST00000340473.6 + 2 209 c.66_splice c.e2-1 p.V23_splice NM_004128.2 NP_004119.1 P13984 T2FB_HUMAN general transcription factor IIF, polypeptide 2, 30kDa 23 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction microtubule cytoskeleton|transcription factor TFIIF complex ATP binding|ATP-dependent helicase activity|DNA binding|protein binding breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|prostate(1)|upper_aerodigestive_tract(1) 10 Lung NSC(96;0.00115)|Prostate(109;0.00578)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000647) TTGTTTTAGGTTCCTAAATAT 0.313000 9 39 0 0 1 0 0 ELAC2 60528 broad.mit.edu 37 17 12905677 12905677 + Splice_Site SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:12905677C>T ENST00000338034.4 - 14 1458 c.e14-1 ELAC2_ENST00000395962.2_Splice_Site|ELAC2_ENST00000426905.3_Splice_Site NM_018127.6|NM_173717.1 NP_060597.4|NP_776065.1 Q9BQ52 RNZ2_HUMAN elaC ribonuclease Z 2 tRNA processing nucleus endonuclease activity|metal ion binding|protein binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1) 23 GGCCCTCCTTCTGAAAGAGAC 0.572000 17 44 0 0 1 0 0 APPBP2 10513 broad.mit.edu 37 17 58571911 58571911 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:58571911A>G ENST00000083182.3 - 3 582 c.295T>C c.(295-297)Tac>Cac p.Y99H NM_006380.2 NP_006371.2 Q92624 APBP2_HUMAN amyloid beta precursor protein (cytoplasmic tail) binding protein 2 99 intracellular protein transport cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus microtubule motor activity|protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1) 25 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01) CTGAATGAGTAGGCCAAGACT 0.373000 12 99 0 0 1 0 0 MIR602 693187 broad.mit.edu 37 9 140732933 140732933 + RNA SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:140732933G>A ENST00000384960.1 + 0 63 NR_030333.1 GGCCGAGTGCGTCTCCTGTCA 0.622000 4 163 0 0 1 0 0 LIG3 3980 broad.mit.edu 37 17 33321416 33321416 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:33321416T>C ENST00000378526.4 + 9 1710 c.1577T>C c.(1576-1578)tTc>tCc p.F526S LIG3_ENST00000262327.5_Missense_Mutation_p.F526S NM_013975.3 NP_039269.2 P49916 DNLI3_HUMAN ligase III, DNA, ATP-dependent 526 base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1) 31 Ovarian(249;0.17) Bleomycin(DB00290) TTCAGCTACTTCAGCCGCAGT 0.512000 Other BER factors 6 130 0 0 1 0 0 PLEC 5339 broad.mit.edu 37 8 145001841 145001841 + Nonsense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:145001841G>A ENST00000322810.4 - 27 4073 c.3904C>T c.(3904-3906)Cag>Tag p.Q1302* PLEC_ENST00000527096.1_Nonsense_Mutation_p.Q1188*|PLEC_ENST00000356346.3_Nonsense_Mutation_p.Q1151*|PLEC_ENST00000436759.2_Nonsense_Mutation_p.Q1192*|PLEC_ENST00000357649.2_Nonsense_Mutation_p.Q1169*|PLEC_ENST00000354589.3_Nonsense_Mutation_p.Q1165*|PLEC_ENST00000398774.2_Nonsense_Mutation_p.Q1133*|PLEC_ENST00000345136.3_Nonsense_Mutation_p.Q1165*|PLEC_ENST00000354958.2_Nonsense_Mutation_p.Q1143* NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 1302 Globular 1. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 CCGTGCCGCTGCTGCAGTCGC 0.731000 6 14 0 0 1 0 0 GNA11 2767 broad.mit.edu 37 19 3119235 3119235 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:3119235G>A ENST00000078429.4 + 6 1009 c.767G>A c.(766-768)cGg>cAg p.R256Q AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR NM_002067.2 NP_002058.2 P29992 GNA11_HUMAN guanine nucleotide binding protein (G protein), alpha 11 (Gq class) 256 activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential cytoplasm|heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16) 161 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181) GCCCTGTTCCGGACCATCATC 0.607000 Mis uveal melanoma 58 151 0 0 1 0 0 AKAP6 9472 broad.mit.edu 37 14 33014698 33014698 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:33014698A>G ENST00000280979.4 + 4 1009 c.839A>G c.(838-840)gAc>gGc p.D280G AKAP6_ENST00000557272.1_Missense_Mutation_p.D280G|AKAP6_ENST00000557354.1_Missense_Mutation_p.D280G NM_004274.4 NP_004265.3 Q13023 AKAP6_HUMAN A kinase (PRKA) anchor protein 6 280 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2) 122 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) GTAGCTGCTGACTCTATCTCT 0.448000 47 145 0 0 1 0 0 EMP1 2012 broad.mit.edu 37 12 13364476 13364476 + Missense_Mutation SNP T T C rs147282605 byFrequency TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:13364476T>C ENST00000256951.5 + 2 231 c.32T>C c.(31-33)gTc>gCc p.V11A EMP1_ENST00000542289.1_Splice_Site|EMP1_ENST00000537612.1_Missense_Mutation_p.V11A|EMP1_ENST00000396301.3_Missense_Mutation_p.V11A|EMP1_ENST00000544053.1_Intron|EMP1_ENST00000431267.2_Intron NM_001423.2 NP_001414.1 P54849 EMP1_HUMAN epithelial membrane protein 1 11 cell growth|cell proliferation|epidermis development integral to membrane|membrane fraction Prostate(47;0.194) BRCA - Breast invasive adenocarcinoma(232;0.153) ATCTTTGTGGTCCACATCGCT 0.348000 4 206 0 0 1 0 0 SLC5A2 6524 broad.mit.edu 37 16 31500266 31500266 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:31500266G>A ENST00000330498.3 + 11 1365 c.1346G>A c.(1345-1347)gGc>gAc p.G449D NM_003041.3 NP_003032.1 P31639 SC5A2_HUMAN solute carrier family 5 (sodium/glucose cotransporter), member 2 449 carbohydrate metabolic process integral to membrane low-affinity glucose:sodium symporter activity endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 25 GCGGCACAGGGCGGGCAGCTC 0.662000 7 81 0 0 1 0 0 FRMPD2 143162 broad.mit.edu 37 10 49444587 49444587 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:49444587G>A ENST00000374201.3 - 9 1233 c.931C>T c.(931-933)Cca>Tca p.P311S FRMPD2_ENST00000407470.4_Missense_Mutation_p.P280S|FRMPD2_ENST00000305531.3_Missense_Mutation_p.P287S NM_001018071.3 NP_001018081.3 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 311 tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 66 Kidney(211;0.201) ATGAACTCTGGCCTGGAAAAC 0.562000 23 63 0 0 1 0 0 CLIC1 1192 broad.mit.edu 37 6 31700051 31700051 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:31700051A>G ENST00000375780.2 - 6 1079 c.507T>C c.(505-507)gaT>gaC p.D169D CLIC1_ENST00000375784.3_Silent_p.D169D|CLIC1_ENST00000395892.1_Silent_p.D169D|CLIC1_ENST00000375779.2_Silent_p.D169D O00299 CLIC1_HUMAN chloride intracellular channel 1 169 GST C-terminal. signal transduction brush border|chloride channel complex|cytoplasm|membrane fraction|nuclear membrane|plasma membrane|soluble fraction protein binding|voltage-gated chloride channel activity p.D169E(1) central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)|skin(1) 7 GCTCGTTGCCATCCAAAAACT 0.498000 31 77 0 0 1 0 0 IGSF3 3321 broad.mit.edu 37 1 117150895 117150895 + Silent SNP C C T rs61730485 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:117150895C>T ENST00000369486.3 - 5 1656 c.891G>A c.(889-891)ccG>ccA p.P297P IGSF3_ENST00000318837.6_Silent_p.P297P|IGSF3_ENST00000369483.1_Silent_p.P297P NM_001007237.1 NP_001007238.1 O75054 IGSF3_HUMAN immunoglobulin superfamily, member 3 297 Ig-like C2-type 3. integral to membrane NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 62 Lung SC(450;0.225) all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05) Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166) TGAACTCCACCGGCTCGCCCA 0.542000 7 26 0 0 1 0 0 PGM5 5239 broad.mit.edu 37 9 70993145 70993145 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:70993145A>G ENST00000396396.1 + 2 521 c.292A>G c.(292-294)Atc>Gtc p.I98V PGM5_ENST00000396392.1_Missense_Mutation_p.I98V|PGM5_ENST00000604870.2_3'UTR NM_021965.3 NP_068800.2 Q15124 PGM5_HUMAN phosphoglucomutase 5 98 cell adhesion|cellular calcium ion homeostasis|glucose metabolic process costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity p.I98V(3) endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1) 34 ACAGAATGGCATCTTGTCGAC 0.478000 12 99 0 0 1 0 0 TRPC7 57113 broad.mit.edu 37 5 135692879 135692879 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:135692879G>A ENST00000513104.1 - 2 479 c.197C>T c.(196-198)tCc>tTc p.S66F TRPC7_ENST00000355180.3_Missense_Mutation_p.S66F|TRPC7_ENST00000426057.2_Missense_Mutation_p.S66F NM_020389.2 NP_065122.1 Q9HCX4 TRPC7_HUMAN transient receptor potential cation channel, subfamily C, member 7 66 axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3) 46 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) AAGGGTCTTGGACTCCTCCAG 0.592000 5 205 0 0 1 0 0 IGFALS 3483 broad.mit.edu 37 16 1841424 1841424 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:1841424C>T ENST00000415638.3 - 2 1188 c.1109G>A c.(1108-1110)cGc>cAc p.R370H IGFALS_ENST00000215539.3_Missense_Mutation_p.R332H NM_001146006.1|NM_004970.2 NP_001139478.1|NP_004961.1 P35858 ALS_HUMAN insulin-like growth factor binding protein, acid labile subunit 332 cell adhesion|signal transduction soluble fraction insulin-like growth factor binding endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 8 CTCAAAGCTGCGCTCAGCCAG 0.667000 9 25 0 0 1 0 0 CLASRP 11129 broad.mit.edu 37 19 45567447 45567447 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:45567447G>A ENST00000544944.2 + 11 1775 c.1083G>A c.(1081-1083)caG>caA p.Q361Q CLASRP_ENST00000391953.4_Silent_p.Q299Q|CLASRP_ENST00000221455.3_Silent_p.Q361Q Q8N2M8 CLASR_HUMAN CLK4-associating serine/arginine rich protein 361 mRNA processing|RNA splicing nucleus breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1) 16 CACCTCCCCAGCCTGGCGGCC 0.721000 7 29 0 0 1 0 0 ITPR1 3708 broad.mit.edu 37 3 4715983 4715983 + Silent SNP A A C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:4715983A>C ENST00000302640.8 + 21 2859 c.2509A>C c.(2509-2511)Agg>Cgg p.R837R ITPR1_ENST00000456211.2_Silent_p.R837R|ITPR1_ENST00000423119.2_Silent_p.R852R|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000443694.2_Silent_p.R837R|ITPR1_ENST00000354582.6_Silent_p.R852R|ITPR1_ENST00000357086.4_Silent_p.R852R NM_001168272.1 NP_001161744.1 Q14643 ITPR1_HUMAN inositol 1,4,5-trisphosphate receptor, type 1 852 activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2) 106 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) GGTTTGTCAGAGGTTCCCTTT 0.388000 4 7 0 0 1 0 0 PALLD 23022 broad.mit.edu 37 4 169845472 169845472 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:169845472A>G ENST00000335742.7 + 19 3957 c.2600A>G c.(2599-2601)tAc>tGc p.Y867C CBR4_ENST00000509108.1_Intron|PALLD_ENST00000505667.1_Missense_Mutation_p.Y1042C|PALLD_ENST00000507735.1_Missense_Mutation_p.Y538C|PALLD_ENST00000512127.1_Missense_Mutation_p.Y643C|PALLD_ENST00000261509.6_Missense_Mutation_p.Y1025C Q8WX93 PALLD_HUMAN palladin, cytoskeletal associated protein 1249 Interaction with ACTN. cytoskeleton organization actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere actin binding|muscle alpha-actinin binding breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4) 48 Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144) GBM - Glioblastoma multiforme(119;0.204) GCTGATGGGTACCCAGTGCGG 0.448000 Pancreatic Cancer, Familial Clustering of 22 45 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7726882 7726882 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:7726882G>A ENST00000572933.1 + 74 12725 c.11265G>A c.(11263-11265)gaG>gaA p.E3755E DNAH2_ENST00000389173.2_Silent_p.E3755E Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 3755 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity 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) ACTCCTTTGAGCAGTACCCTC 0.532000 4 99 0 0 1 0 0 C9orf41 138199 broad.mit.edu 37 9 77599851 77599851 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:77599851A>G ENST00000376834.3 - 7 1252 c.1100T>C c.(1099-1101)gTt>gCt p.V367A RP11-197P3.4_ENST00000455609.1_RNA|C9orf41_ENST00000376837.3_3'UTR NM_152420.1 NP_689633.1 Q8N4J0 CI041_HUMAN chromosome 9 open reading frame 41 367 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|urinary_tract(2) 17 CTGCAGAACAACGTTTTTTAT 0.358000 9 61 0 0 1 0 0 ARVCF 421 broad.mit.edu 37 22 19967712 19967712 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr22:19967712G>A ENST00000263207.3 - 6 1241 c.950C>T c.(949-951)gCg>gTg p.A317V ARVCF_ENST00000401994.1_Missense_Mutation_p.A254V|ARVCF_ENST00000344269.3_Missense_Mutation_p.A254V|ARVCF_ENST00000406522.1_Missense_Mutation_p.A254V|ARVCF_ENST00000406259.1_Missense_Mutation_p.A317V NM_001670.2 NP_001661.1 O00192 ARVC_HUMAN armadillo repeat gene deleted in velocardiofacial syndrome 317 cell adhesion|multicellular organismal development protein binding NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2) 13 Colorectal(54;0.0993) CATTGGGAACGCAGGCCGCTC 0.711000 17 44 0 0 1 0 0 DCBLD2 131566 broad.mit.edu 37 3 98538090 98538090 + Missense_Mutation SNP T T A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:98538090T>A ENST00000326840.6 - 8 1405 c.1043A>T c.(1042-1044)tAc>tTc p.Y348F DCBLD2_ENST00000326857.9_Missense_Mutation_p.Y348F NM_080927.3 NP_563615.3 Q96PD2 DCBD2_HUMAN discoidin, CUB and LCCL domain containing 2 348 F5/8 type C. cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing cell surface|integral to plasma membrane breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2) 25 TAACCACTGGTATTCATCAGT 0.378000 4 10 0 0 1 0 0 KLHDC8A 55220 broad.mit.edu 37 1 205312508 205312508 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:205312508G>A ENST00000367156.3 - 5 1041 c.225C>T c.(223-225)acC>acT p.T75T KLHDC8A_ENST00000460687.1_Intron|KLHDC8A_ENST00000537168.1_Intron|KLHDC8A_ENST00000367155.3_Silent_p.T75T|KLHDC8A_ENST00000539253.1_Silent_p.T75T NM_001271863.1 NP_001258792.1 Q8IYD2 KLD8A_HUMAN kelch domain containing 8A 75 breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 14 Breast(84;0.23) BRCA - Breast invasive adenocarcinoma(75;0.117) TCCCCAGGGCGGTGACGGCCA 0.667000 56 173 0 0 1 0 0 PRPH 5630 broad.mit.edu 37 12 49689166 49689166 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:49689166T>C ENST00000257860.4 + 1 1682 c.183T>C c.(181-183)cgT>cgC p.R61R RP11-161H23.9_ENST00000553259.1_RNA NM_006262.3 NP_006253.2 P41219 PERI_HUMAN peripherin 61 Head. structural molecule activity p.R61R(1) kidney(1)|large_intestine(2)|lung(8)|skin(1) 12 GCAGCTTCCGTAGCCCCCGAG 0.736000 7 27 0 0 1 0 0 TRAV12-3 28672 broad.mit.edu 37 14 22434142 22434142 + RNA SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:22434142C>T ENST00000390442.3 + 0 251 CCAGAAAAGGCCCTGAGTTGC 0.433000 8 244 0 0 1 0 0 NLN 57486 broad.mit.edu 37 5 65105442 65105442 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:65105442G>A ENST00000380985.5 + 10 1806 c.1628G>A c.(1627-1629)cGa>cAa p.R543Q NLN_ENST00000502464.1_Missense_Mutation_p.R439Q NM_020726.4 NP_065777.1 Q9BYT8 NEUL_HUMAN neurolysin (metallopeptidase M3 family) 543 proteolysis mitochondrial intermembrane space metal ion binding|metalloendopeptidase activity central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 26 Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186) UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616) GATTCCCTCCGAAGATTGTCA 0.423000 19 71 0 0 1 0 0 COPB2 9276 broad.mit.edu 37 3 139096923 139096923 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:139096923T>C ENST00000333188.5 - 5 645 c.464A>G c.(463-465)aAc>aGc p.N155S COPB2_ENST00000507777.1_Missense_Mutation_p.N126S NM_004766.2 NP_004757.1 P35606 COPB2_HUMAN coatomer protein complex, subunit beta 2 (beta prime) 155 COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol protein binding|structural molecule activity breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 24 AAACTGATTGTTATCTTTGGG 0.408000 51 149 0 0 1 0 0 SLC39A4 55630 broad.mit.edu 37 8 145638731 145638731 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:145638731A>G ENST00000276833.5 - 9 1745 c.1442T>C c.(1441-1443)gTg>gCg p.V481A SLC39A4_ENST00000531013.1_5'UTR|SLC39A4_ENST00000301305.3_Missense_Mutation_p.V506A NM_017767.2 NP_060237.2 Q6P5W5 S39A4_HUMAN solute carrier family 39 (zinc transporter), member 4 506 cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane zinc ion transmembrane transporter activity endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 14 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055) GAAGTTGTGCACGGCGTCGCC 0.687000 7 34 0 0 1 0 0 MMP14 4323 broad.mit.edu 37 14 23313942 23313942 + Silent SNP T T G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:23313942T>G ENST00000311852.6 + 8 1515 c.1254T>G c.(1252-1254)gcT>gcG p.A418A MMP14_ENST00000548162.1_3'UTR NM_004995.2 NP_004986.1 P50281 MMP14_HUMAN matrix metallopeptidase 14 (membrane-inserted) 418 Hemopexin-like 3. extracellular matrix|integral to plasma membrane|melanosome calcium ion binding|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1) 20 all_cancers(95;9.47e-05) GBM - Glioblastoma multiforme(265;0.00551) TTGATGCTGCTCTCTTCTGGA 0.552000 13 141 0 0 1 0 0 CPT1C 126129 broad.mit.edu 37 19 50208489 50208489 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:50208489C>T ENST00000392518.4 + 10 1270 c.898C>T c.(898-900)Cgc>Tgc p.R300C CPT1C_ENST00000323446.5_Missense_Mutation_p.R300C|CPT1C_ENST00000405931.2_Missense_Mutation_p.R289C|CPT1C_ENST00000354199.5_Missense_Mutation_p.R300C|CPT1C_ENST00000598293.1_Missense_Mutation_p.R300C NM_001199752.1 NP_001186681.1 Q8TCG5 CPT1C_HUMAN carnitine palmitoyltransferase 1C 300 fatty acid metabolic process integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786) GATGGGAATGCGCCCCTTATG 0.587000 52 151 0 0 1 0 0 COLGALT2 23127 broad.mit.edu 37 1 183944273 183944273 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:183944273T>C ENST00000361927.4 - 3 821 c.450A>G c.(448-450)gcA>gcG p.A150A COLGALT2_ENST00000546159.1_Silent_p.A150A NM_015101.2 NP_055916.1 collagen beta(1-O)galactosyltransferase 2 TTCGAAGGGCTGCCTGTCGTA 0.428000 6 82 0 0 1 0 0 CACNA2D1 781 broad.mit.edu 37 7 81978944 81978944 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:81978944C>T ENST00000356860.3 - 2 455 c.117G>A c.(115-117)aaG>aaA p.K39K CACNA2D1_ENST00000423588.1_Silent_p.K39K|CACNA2D1_ENST00000356253.5_Silent_p.K39K NM_000722.2 NP_000713.2 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 1 39 voltage-gated calcium channel complex metal ion binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) CTTCTTGCATCTTATCCACCC 0.363000 15 85 0 0 1 0 0 IL23R 149233 broad.mit.edu 37 1 67724679 67724679 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:67724679A>G ENST00000347310.5 + 11 1929 c.1758A>G c.(1756-1758)gaA>gaG p.E586E IL23R_ENST00000473881.1_3'UTR|IL23R_ENST00000371002.1_3'UTR|IL23R_ENST00000395227.1_Silent_p.E331E NM_144701.2 NP_653302.2 Q5VWK5 IL23R_HUMAN interleukin 23 receptor 586 inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide interleukin-23 receptor complex receptor activity breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 21 CTATTCCAGAACAGACCCTGC 0.398000 21 110 0 0 1 0 0 DLG5 9231 broad.mit.edu 37 10 79581222 79581222 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:79581222G>A ENST00000372391.2 - 15 3025 c.3020C>T c.(3019-3021)gCg>gTg p.A1007V DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Intron NM_004747.3 NP_004738.3 Q8TDM6 DLG5_HUMAN discs, large homolog 5 (Drosophila) 1007 Pro-rich. cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) CAGAGGCCCCGCCCTCTTGGA 0.592000 42 102 0 0 1 0 0 TCERG1L 256536 broad.mit.edu 37 10 132891465 132891465 + Missense_Mutation SNP C C T rs139123582 byFrequency TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:132891465C>T ENST00000368642.4 - 12 1806 c.1721G>A c.(1720-1722)cGg>cAg p.R574Q NM_174937.3 NP_777597.2 Q5VWI1 TCRGL_HUMAN transcription elongation regulator 1-like 574 cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 31 all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09) all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276) TTCCTTGTCCCGTTTCTTAAG 0.478000 13 53 0 0 1 0 0 C6orf10 10665 broad.mit.edu 37 6 32260981 32260981 + Missense_Mutation SNP T T G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:32260981T>G ENST00000375015.4 - 26 1666 c.1466A>C c.(1465-1467)aAg>aCg p.K489T C6orf10_ENST00000527965.1_Missense_Mutation_p.K474T|C6orf10_ENST00000447241.2_Missense_Mutation_p.K490T|C6orf10_ENST00000375007.4_Missense_Mutation_p.K488T|C6orf10_ENST00000533191.1_Missense_Mutation_p.K488T|C6orf10_ENST00000442822.2_Intron Q5SRN2 CF010_HUMAN chromosome 6 open reading frame 10 490 Lys-rich. integral to membrane cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1) 25 AAAACTCTCCTTCTTTTCTTG 0.373000 10 180 0 0 1 0 0 HCLS1 3059 broad.mit.edu 37 3 121351340 121351340 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:121351340T>C ENST00000314583.3 - 12 1170 c.1079A>G c.(1078-1080)tAc>tGc p.Y360C HCLS1_ENST00000473883.1_5'UTR|HCLS1_ENST00000428394.2_Missense_Mutation_p.Y323C NM_005335.4 NP_005326.2 P14317 HCLS1_HUMAN hematopoietic cell-specific Lyn substrate 1 360 erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus mitochondrion|nucleus|plasma membrane DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 GBM - Glioblastoma multiforme(114;0.0912) ctcTGCTTCGTACACTGGCTC 0.592000 60 168 0 0 1 0 0 TUFM 7284 broad.mit.edu 37 16 28856724 28856724 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:28856724T>C ENST00000313511.3 - 3 463 c.325A>G c.(325-327)Atc>Gtc p.I109V NM_003321.4 NP_003312.3 P49411 EFTU_HUMAN Tu translation elongation factor, mitochondrial 106 mitochondrial nucleoid GTP binding|GTPase activity|protein binding|translation elongation factor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 13 TTGATGGTGATACCCCGAGCT 0.552000 53 160 0 0 1 0 0 OAZ1 4946 broad.mit.edu 37 19 2273081 2273081 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:2273081G>A ENST00000583542.3 + 6 764 c.685G>A c.(685-687)Gag>Aag p.E229K OAZ1_ENST00000322297.4_Missense_Mutation_p.E220K|OAZ1_ENST00000582888.3_Missense_Mutation_p.E219K|OAZ1_ENST00000602676.1_Missense_Mutation_p.E221K|OAZ1_ENST00000592727.1_3'UTR P54368 OAZ1_HUMAN ornithine decarboxylase antizyme 1 221 polyamine biosynthetic process|regulation of cellular amino acid metabolic process cytosol ornithine decarboxylase inhibitor activity endometrium(1)|lung(2) 3 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) L-Ornithine(DB00129) GTTCGAGAGAGAGTCTTCGGG 0.632000 5 19 0 0 1 0 0 AKAP8 10270 broad.mit.edu 37 19 15472959 15472959 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:15472959T>C ENST00000269701.2 - 10 1324 c.1264A>G c.(1264-1266)Agc>Ggc p.S422G NM_005858.3 NP_005849.1 O43823 AKAP8_HUMAN A kinase (PRKA) anchor protein 8 422 signal transduction nuclear matrix breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2) 26 AGCTTGGTGCTTATGAACCGC 0.537000 3 50 0 0 1 0 0 KIAA1161 57462 broad.mit.edu 37 9 34371428 34371428 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:34371428A>G ENST00000297625.7 - 2 1637 c.1412T>C c.(1411-1413)gTa>gCa p.V471A NM_020702.3 NP_065753.2 Q6NSJ0 K1161_HUMAN KIAA1161 505 carbohydrate metabolic process integral to membrane hydrolase activity, hydrolyzing O-glycosyl compounds breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1) 12 LUSC - Lung squamous cell carcinoma(29;0.0107) GBM - Glioblastoma multiforme(74;0.126) CTGGTAGCCTACGCGCACCTC 0.662000 16 41 0 0 1 0 0 ABHD1 84696 broad.mit.edu 37 2 27351946 27351946 + Missense_Mutation SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:27351946G>T ENST00000316470.4 + 3 523 c.409G>T c.(409-411)Gat>Tat p.D137Y NM_032604.3 NP_115993.3 Q96SE0 ABHD1_HUMAN abhydrolase domain containing 1 137 D -> E (in dbSNP:rs6715286). integral to membrane carboxylesterase activity endometrium(1)|kidney(1)|lung(3) 5 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CAGTAGCCAGGATACATACGT 0.557000 31 94 3.69857e-22 3.90823e-22 1 1 0 MAPKBP1 23005 broad.mit.edu 37 15 42107539 42107539 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:42107539G>A ENST00000457542.2 + 11 1539 c.1253G>A c.(1252-1254)cGc>cAc p.R418H MAPKBP1_ENST00000514566.1_Missense_Mutation_p.R418H|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.R424H|MAPKBP1_ENST00000260357.7_Intron|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.R301H NM_014994.2 NP_055809.2 O60336 MABP1_HUMAN mitogen-activated protein kinase binding protein 1 424 breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225) AACACCATCCGCCTGTGGAAC 0.612000 5 83 0 0 1 0 0 SBF1 6305 broad.mit.edu 37 22 50903743 50903743 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr22:50903743G>A ENST00000380817.2 - 11 1287 c.1104C>T c.(1102-1104)cgC>cgT p.R368R SBF1_ENST00000348911.6_Silent_p.R369R|SBF1_ENST00000390679.3_Silent_p.R368R NM_002972.2 NP_002963.2 O95248 MTMR5_HUMAN SET binding factor 1 368 dDENN. protein dephosphorylation integral to membrane|nucleus protein tyrosine/serine/threonine phosphatase activity breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 43 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247) GGAAGACCGCGCGCAGCTCCT 0.647000 5 11 0 0 1 0 0 NNT 23530 broad.mit.edu 37 5 43650623 43650623 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:43650623T>C ENST00000264663.5 + 12 1872 c.1651T>C c.(1651-1653)Tat>Cat p.Y551H NNT_ENST00000344920.4_Missense_Mutation_p.Y551H|NNT_ENST00000512996.2_Missense_Mutation_p.Y420H NM_012343.3 NP_036475.3 Q13423 NNTM_HUMAN nicotinamide nucleotide transhydrogenase 551 tricarboxylic acid cycle integral to membrane|mitochondrial respiratory chain NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(6;2.58e-06) NADH(DB00157) AGGACATTTGTATCCTTCCAC 0.433000 8 77 0 0 1 0 0 ASAP2 8853 broad.mit.edu 37 2 9528450 9528450 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:9528450C>T ENST00000281419.3 + 22 2498 c.2158C>T c.(2158-2160)Ccc>Tcc p.P720S ASAP2_ENST00000315273.4_Missense_Mutation_p.P720S|ASAP2_ENST00000491413.1_3'UTR NM_003887.2 NP_003878.1 O43150 ASAP2_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 720 regulation of ARF GTPase activity Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|protein binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 36 GGAAGACCGGCCCATCAGCTT 0.547000 27 73 0 0 1 0 0 ITGA11 22801 broad.mit.edu 37 15 68605148 68605148 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:68605148T>C ENST00000423218.2 - 24 3031 c.2936A>G c.(2935-2937)tAc>tGc p.Y979C ITGA11_ENST00000315757.7_Missense_Mutation_p.Y979C Q9UKX5 ITA11_HUMAN integrin, alpha 11 979 cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development integrin complex collagen binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 52 Tirofiban(DB00775) GATACCATCGTATCTCTCCAG 0.637000 3 43 0 0 1 0 0 RAD50 10111 broad.mit.edu 37 5 131931411 131931411 + Nonsense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:131931411C>T ENST00000378823.3 + 13 2517 c.1699C>T c.(1699-1701)Cga>Tga p.R567* RAD50_ENST00000265335.6_Nonsense_Mutation_p.R706* NM_005732.3 NP_005723.2 Q92878 RAD50_HUMAN RAD50 homolog (S. cerevisiae) 706 DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding p.R706G(1)|p.R567G(1) breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 all_cancers(142;0.0368)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GTCTAAACTGCGACTTGCTCC 0.438000 Homologous recombination 30 118 0 0 1 0 0 PLXNA1 5361 broad.mit.edu 37 3 126748859 126748859 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:126748859C>T ENST00000393409.2 + 27 5013 c.5013C>T c.(5011-5013)ggC>ggT p.G1671G PLXNA1_ENST00000251772.4_Silent_p.G1648G NM_032242.3 NP_115618.3 Q9UIW2 PLXA1_HUMAN plexin A1 1671 axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 67 GBM - Glioblastoma multiforme(114;0.155) GTGACCGCGGCAGCAAGATGG 0.657000 5 154 0 0 1 0 0 NCOA7 135112 broad.mit.edu 37 6 126199426 126199426 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:126199426C>T ENST00000368357.3 + 6 721 c.369C>T c.(367-369)acC>acT p.T123T NCOA7_ENST00000229634.9_Silent_p.T19T|NCOA7_ENST00000392477.2_Silent_p.T123T NM_001199619.1|NM_001199620.1 NP_001186548.1|NP_001186549.1 Q8NI08 NCOA7_HUMAN nuclear receptor coactivator 7 123 cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2) 39 UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237) ACCAGGACACCCTAAACTCCA 0.318000 11 29 0 0 1 0 0 TFRC 7037 broad.mit.edu 37 3 195798888 195798888 + Silent SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:195798888A>T ENST00000360110.4 - 5 739 c.570T>A c.(568-570)atT>atA p.I190I TFRC_ENST00000420415.1_Silent_p.I109I|TFRC_ENST00000392396.3_Silent_p.I190I|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000535031.1_5'UTR NM_001128148.1 NP_001121620.1 P02786 TFR1_HUMAN transferrin receptor 190 cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport coated pit|endosome|integral to plasma membrane|melanosome peptidase activity|transferrin receptor activity NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00233) CTTTGACCTGAATCTTAACAA 0.323000 T BCL6 NHL 5 62 0 0 1 0 0 SLC5A2 6524 broad.mit.edu 37 16 31497177 31497177 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:31497177T>C ENST00000330498.3 + 4 450 c.431T>C c.(430-432)gTg>gCg p.V144A NM_003041.3 NP_003032.1 P31639 SC5A2_HUMAN solute carrier family 5 (sodium/glucose cotransporter), member 2 144 carbohydrate metabolic process integral to membrane low-affinity glucose:sodium symporter activity endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 25 TACCTGTCTGTGCTCTCCCTT 0.597000 16 57 0 0 1 0 0 FYN 2534 broad.mit.edu 37 6 112024217 112024217 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:112024217G>A ENST00000354650.3 - 8 1174 c.568C>T c.(568-570)Cgt>Tgt p.R190C FYN_ENST00000476769.2_5'UTR|FYN_ENST00000538466.1_Missense_Mutation_p.R190C|FYN_ENST00000229470.5_Missense_Mutation_p.R141C|FYN_ENST00000356013.2_Missense_Mutation_p.R190C|FYN_ENST00000368682.3_Missense_Mutation_p.R190C|FYN_ENST00000368678.4_Missense_Mutation_p.R190C|FYN_ENST00000229471.4_Missense_Mutation_p.R190C|FYN_ENST00000368667.2_Missense_Mutation_p.R190C NM_002037.5 NP_002028.1 P06241 FYN_HUMAN FYN oncogene related to SRC, FGR, YES 190 SH2. axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction cytosol|endosome|plasma membrane ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 30 all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211) all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102) Dasatinib(DB01254) TCCCAATCACGGATAGAAAGT 0.413000 19 64 0 0 1 0 0 KIAA1407 57577 broad.mit.edu 37 3 113684127 113684127 + Nonsense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:113684127G>A ENST00000295878.3 - 17 2832 c.2686C>T c.(2686-2688)Cga>Tga p.R896* NM_020817.1 NP_065868.1 Q8NCU4 K1407_HUMAN KIAA1407 896 endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1) 40 AGTTGCTGTCGCCTTTCTTCT 0.413000 39 84 0 0 1 0 0 PCDHAC1 56135 broad.mit.edu 37 5 140308431 140308431 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:140308431C>T ENST00000253807.2 + 1 1954 c.1954C>T c.(1954-1956)Ctg>Ttg p.L652L PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHAC1_ENST00000409700.3_Silent_p.L652L|PCDHA5_ENST00000529619.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron NM_018898.3 NP_061721.2 NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 65 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCTGTCACTCTGGGTGTGCT 0.522000 33 92 0 0 1 0 0 OR6N2 81442 broad.mit.edu 37 1 158747317 158747317 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:158747317A>G ENST00000339258.1 - 1 108 c.109T>C c.(109-111)Ttc>Ctc p.F37L NM_001005278.1 NP_001005278.1 Q8NGY6 OR6N2_HUMAN olfactory receptor, family 6, subfamily N, member 2 37 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_hematologic(112;0.0378) CAGATGGTGAACAGGTATGCC 0.483000 40 117 0 0 1 0 0 LRRC16B 90668 broad.mit.edu 37 14 24534907 24534907 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:24534907C>T ENST00000342740.5 + 34 3627 c.3473C>T c.(3472-3474)gCc>gTc p.A1158V LRRC16B_ENST00000334420.7_Intron NM_138360.3 NP_612369.3 Q8ND23 LR16B_HUMAN leucine rich repeat containing 16B 1158 breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 52 GBM - Glioblastoma multiforme(265;0.019) CACGGTGTTGCCCTTCCCGGG 0.587000 41 124 0 0 1 0 0 CYP7A1 1581 broad.mit.edu 37 8 59410844 59410844 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:59410844A>G ENST00000301645.3 - 2 402 c.265T>C c.(265-267)Ttg>Ctg p.L89L NM_000780.3 NP_000771.2 P22680 CP7A1_HUMAN cytochrome P450, family 7, subfamily A, polypeptide 1 89 bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1) 34 all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554) CCGTGGCACAACACCTTATGG 0.358000 Neonatal Giant Cell Hepatitis 15 190 0 0 1 0 0 FILIP1 27145 broad.mit.edu 37 6 76023544 76023544 + Missense_Mutation SNP T T A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:76023544T>A ENST00000393004.2 - 5 2225 c.2004A>T c.(2002-2004)agA>agT p.R668S FILIP1_ENST00000370020.1_Missense_Mutation_p.R569S|FILIP1_ENST00000237172.7_Missense_Mutation_p.R668S|FILIP1_ENST00000498523.1_5'UTR Q7Z7B0 FLIP1_HUMAN filamin A interacting protein 1 668 breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4) 80 CCTGCTCAGTTCTAAATTTCT 0.423000 6 320 0 0 1 0 0 FOCAD 54914 broad.mit.edu 37 9 20781876 20781876 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:20781876T>C ENST00000380249.1 + 12 1509 c.1145T>C c.(1144-1146)cTa>cCa p.L382P FOCAD_ENST00000338382.6_Missense_Mutation_p.L382P NM_017794.3 NP_060264.3 Q5VW36 K1797_HUMAN focadhesin 382 integral to membrane binding CAGTTGGCTCTAAACCTTTTG 0.418000 27 59 0 0 1 0 0 FAM83E 54854 broad.mit.edu 37 19 49106822 49106822 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:49106822G>A ENST00000263266.3 - 4 1294 c.1105C>T c.(1105-1107)Cgg>Tgg p.R369W NM_017708.3 NP_060178.2 Q2M2I3 FA83E_HUMAN family with sequence similarity 83, member E 369 NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2) 10 all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158) CGGCTgggccgggccgggggg 0.697000 3 21 0 0 1 0 0 TRPA1 8989 broad.mit.edu 37 8 72977772 72977772 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:72977772T>C ENST00000262209.4 - 4 673 c.466A>G c.(466-468)Att>Gtt p.I156V NM_007332.2 NP_015628.2 O75762 TRPA1_HUMAN transient receptor potential cation channel, subfamily A, member 1 156 integral to plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1) 98 Epithelial(68;0.223) Menthol(DB00825) TTAACATCAATAGTTCTATGC 0.348000 14 48 0 0 1 0 0 OLFML3 56944 broad.mit.edu 37 1 114523793 114523793 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:114523793T>C ENST00000369551.1 + 4 851 c.563T>C c.(562-564)gTa>gCa p.V188A OLFML3_ENST00000320334.4_Missense_Mutation_p.V208A|OLFML3_ENST00000491700.1_3'UTR|OLFML3_ENST00000393300.2_Missense_Mutation_p.V188A Q9NRN5 OLFL3_HUMAN olfactomedin-like 3 208 Olfactomedin-like. multicellular organismal development extracellular region breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1) 14 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TTCCCCTGGGTAGGCACAGGG 0.567000 19 62 0 0 1 0 0 ABL1 25 broad.mit.edu 37 9 133748417 133748417 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:133748417A>G ENST00000318560.5 + 6 1459 c.1078A>G c.(1078-1080)Atc>Gtc p.I360V NM_005157.4 NP_005148.2 P00519 ABL1_HUMAN c-abl oncogene 1, non-receptor tyrosine kinase 360 Protein kinase. actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 1195 all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.4e-05) Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619) GAAAAACTTCATCCACAGGTA 0.607000 """T, Mis""" """BCR, ETV6, NUP214""" """CML, ALL, T-ALL""" 12 32 0 0 1 0 0 FBN2 2201 broad.mit.edu 37 5 127623000 127623000 + Splice_Site SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:127623000C>T ENST00000508053.1 - 60 7854 c.6880_splice c.e60+1 p.D2294_splice FBN2_ENST00000262464.4_Splice_Site_p.D2294_splice P35556 FBN2_HUMAN fibrillin 2 2294 EGF-like 39; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) GAGGCCTTACCTTTGCACATC 0.438000 4 150 0 0 1 0 0 HSPA4L 22824 broad.mit.edu 37 4 128724902 128724902 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:128724902G>A ENST00000296464.3 + 7 1193 c.782G>A c.(781-783)cGg>cAg p.R261Q HSPA4L_ENST00000508776.1_Missense_Mutation_p.R261Q|HSPA4L_ENST00000439123.2_Missense_Mutation_p.R292Q|HSPA4L_ENST00000505726.1_Missense_Mutation_p.R235Q NM_014278.2 NP_055093.2 O95757 HS74L_HUMAN heat shock 70kDa protein 4-like 261 protein folding|response to unfolded protein cytoplasm|nucleus ATP binding|protein binding central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 31 GAAAACTCTCGGGCCTTGTTG 0.373000 19 55 0 0 1 0 0 NPAT 4863 broad.mit.edu 37 11 108031919 108031919 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:108031919G>A ENST00000278612.8 - 17 3999 c.3894C>T c.(3892-3894)gaC>gaT p.D1298D NM_002519.2 NP_002510.2 Q14207 NPAT_HUMAN nuclear protein, ataxia-telangiectasia locus 1298 positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle Cajal body protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5) 46 all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116) ATGTACTACTGTCTTCACTGA 0.498000 25 99 0 0 1 0 0 FLT1 2321 broad.mit.edu 37 13 29041235 29041235 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr13:29041235C>T ENST00000282397.4 - 3 444 c.193G>A c.(193-195)Gaa>Aaa p.E65K FLT1_ENST00000539099.1_Missense_Mutation_p.E65K|FLT1_ENST00000541932.1_Missense_Mutation_p.E65K NM_002019.4 NP_002010.2 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 65 Ig-like C2-type 1. cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 115 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) CTCACCATTTCAGGCAAAGAC 0.453000 12 139 0 0 1 0 0 RSPH9 221421 broad.mit.edu 37 6 43638530 43638530 + Missense_Mutation SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:43638530C>A ENST00000372165.4 + 6 780 c.727C>A c.(727-729)Ctg>Atg p.L243M RSPH9_ENST00000372163.4_Silent_p.S225S NM_001193341.1 NP_001180270.1 Q9H1X1 RSPH9_HUMAN radial spoke head 9 homolog (Chlamydomonas) 0 cilium axoneme assembly|cilium movement cytoplasm|cytoskeleton NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 TCTCAGGGTCCTGGAGCATCC 0.647000 Kartagener syndrome 22 59 3.10358e-05 3.16963e-05 1 1 0 ATP6V1A 523 broad.mit.edu 37 3 113507640 113507640 + Missense_Mutation SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:113507640A>T ENST00000273398.3 + 7 905 c.797A>T c.(796-798)tAt>tTt p.Y266F ATP6V1A_ENST00000538620.1_Missense_Mutation_p.Y233F NM_001690.3 NP_001681.2 P38606 VATA_HUMAN ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A 266 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 CTATCCAAGTATTCTAACAGT 0.433000 39 89 0 0 1 0 0 PHF2 5253 broad.mit.edu 37 9 96339120 96339120 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:96339120A>G ENST00000359246.4 + 1 432 c.65A>G c.(64-66)gAg>gGg p.E22G PHF2_ENST00000375376.4_Missense_Mutation_p.E22G NM_005392.3 NP_005383.3 O75151 PHF2_HUMAN PHD finger protein 2 22 FMIECDACKDWFHGSCVGVEEEE -> PRAARPPARPGPTR AAQRRGRAT (in Ref. 2; BAA31637). liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;9.11e-28) TTCATGATCGAGTGCGACGCC 0.756000 8 14 0 0 1 0 0 ROCK1 6093 broad.mit.edu 37 18 18548731 18548731 + Splice_Site SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr18:18548731A>G ENST00000399799.1 - 25 3944 c.e25+1 NM_005406.2 NP_005397.1 Q13464 ROCK1_HUMAN Rho-associated, coiled-coil containing protein kinase 1 actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction centriole|cytosol|Golgi membrane ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2) 16 Melanoma(1;0.165) AAGCATGTATACCTGTGTTTT 0.358000 11 47 0 0 1 0 0 IGLV3-10 28803 broad.mit.edu 37 22 23154644 23154644 + RNA SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr22:23154644A>G ENST00000390315.2 + 0 248 AGGACAGCAAACGACCCTCCG 0.542000 5 89 0 0 1 0 0 TM7SF3 51768 broad.mit.edu 37 12 27143527 27143527 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:27143527C>T ENST00000343028.4 - 6 949 c.724G>A c.(724-726)Gtt>Att p.V242I TM7SF3_ENST00000542667.1_Intron NM_016551.2 NP_057635.1 Q9NS93 TM7S3_HUMAN transmembrane 7 superfamily member 3 242 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) GAGAAGGAAACACTTGTCTTA 0.408000 55 95 0 0 1 0 0 NSUN5P1 155400 broad.mit.edu 37 7 75045945 75045945 + RNA SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:75045945C>A ENST00000393633.2 + 0 4672 large_intestine(1)|lung(1) 2 GTGGAGGACCCTGGGCCCTCA 0.582000 26 106 1.2476e-16 1.31095e-16 1 1 0 ROCK1 6093 broad.mit.edu 37 18 18608856 18608856 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr18:18608856A>G ENST00000399799.1 - 10 2032 c.1092T>C c.(1090-1092)gaT>gaC p.D364D NM_005406.2 NP_005397.1 Q13464 ROCK1_HUMAN Rho-associated, coiled-coil containing protein kinase 1 364 AGC-kinase C-terminal. actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction centriole|cytosol|Golgi membrane ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2) 16 Melanoma(1;0.165) AATTACTAGTATCAATGTCAC 0.338000 31 100 0 0 1 0 0 KANK1 23189 broad.mit.edu 37 9 712027 712027 + Missense_Mutation SNP T T A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:712027T>A ENST00000382303.1 + 7 1913 c.1261T>A c.(1261-1263)Tcc>Acc p.S421T KANK1_ENST00000382293.3_Missense_Mutation_p.S263T|KANK1_ENST00000382297.2_Missense_Mutation_p.S421T|KANK1_ENST00000489369.1_3'UTR NM_001256876.1 NP_001243805.1 Q14678 KANK1_HUMAN KN motif and ankyrin repeat domains 1 421 negative regulation of actin filament polymerization cytoplasm autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1) 43 Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128) Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222) AGGCTCCAGGTCCTGTAAGGA 0.552000 28 79 0 0 1 0 0 FNDC1 84624 broad.mit.edu 37 6 159653369 159653369 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:159653369C>T ENST00000297267.9 + 11 2025 c.1825C>T c.(1825-1827)Cgc>Tgc p.R609C FNDC1_ENST00000340366.6_Missense_Mutation_p.R546C NM_032532.2 NP_115921.2 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 609 extracellular region NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3) 93 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) CACGCAGCCCCGCCCAGGGGC 0.687000 13 48 0 0 1 0 0 ATXN2L 11273 broad.mit.edu 37 16 28845883 28845883 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:28845883A>G ENST00000336783.4 + 18 2469 c.2302A>G c.(2302-2304)Atg>Gtg p.M768V ATXN2L_ENST00000395547.2_Missense_Mutation_p.M768V|ATXN2L_ENST00000340394.8_Missense_Mutation_p.M768V|ATXN2L_ENST00000565845.1_3'UTR|ATXN2L_ENST00000325215.6_Missense_Mutation_p.M768V|ATXN2L_ENST00000570200.1_Missense_Mutation_p.M768V|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000564304.1_Missense_Mutation_p.M774V|ATXN2L_ENST00000382686.4_Missense_Mutation_p.M768V NM_007245.3 NP_009176.2 Q8WWM7 ATX2L_HUMAN ataxin 2-like 768 membrane breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 CCCGCCGATGATGCAGGCCGC 0.667000 59 179 0 0 1 0 0 MFSD11 79157 broad.mit.edu 37 17 74774350 74774350 + Silent SNP G G T rs143254714 byFrequency TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:74774350G>T ENST00000588460.1 + 13 3308 c.1266G>T c.(1264-1266)ggG>ggT p.G422G MFSD11_ENST00000590070.1_3'UTR|MFSD11_ENST00000586622.1_Silent_p.G422G|MFSD11_ENST00000336509.4_Silent_p.G422G|MFSD11_ENST00000593181.1_Silent_p.G370G|MFSD11_ENST00000355954.3_Silent_p.G370G|MFSD11_ENST00000590514.1_Silent_p.G422G NM_001242534.1 NP_001229463.1 O43934 MFS11_HUMAN major facilitator superfamily domain containing 11 422 integral to membrane endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1) 17 TGATATTTGGGTTTTTTGGAA 0.468000 4 106 0.00024832 0.000251724 1 1 0 ATP6V0A2 23545 broad.mit.edu 37 12 124233282 124233282 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:124233282A>G ENST00000330342.3 + 15 2133 c.1885A>G c.(1885-1887)Aac>Gac p.N629D NM_012463.3 NP_036595.2 Q9Y487 VPP2_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a2 629 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain hydrogen ion transmembrane transporter activity|protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775) TGAATTTATTAACATGTTTTT 0.398000 6 150 0 0 1 0 0 PLB1 151056 broad.mit.edu 37 2 28763274 28763274 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:28763274G>A ENST00000422425.2 + 12 817 c.773G>A c.(772-774)cGg>cAg p.R258Q PLB1_ENST00000327757.5_Missense_Mutation_p.R247Q NM_001170585.1 NP_001164056.1 Q6P1J6 PLB1_HUMAN phospholipase B1 247 4 X 308-326 AA approximate repeats. lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2) 69 Acute lymphoblastic leukemia(172;0.155) GAGACCACCCGGCTGGCCAAG 0.612000 9 39 0 0 1 0 0 PLA2G2A 5320 broad.mit.edu 37 1 20305005 20305005 + Missense_Mutation SNP G G A rs143609918 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:20305005G>A ENST00000375111.3 - 4 324 c.53C>T c.(52-54)gCc>gTc p.A18V PLA2G2A_ENST00000496748.1_5'UTR|PLA2G2A_ENST00000400520.3_Missense_Mutation_p.A18V NM_000300.3|NM_001161727.1 NP_000291.1|NP_001155199.1 P14555 PA2GA_HUMAN phospholipase A2, group IIA (platelets, synovial fluid) 18 defense response to Gram-positive bacterium|lipid catabolic process|low-density lipoprotein particle remodeling|phosphatidic acid metabolic process|positive regulation of inflammatory response|positive regulation of macrophage derived foam cell differentiation endoplasmic reticulum|extracellular space|membrane calcium ion binding|calcium-dependent phospholipase A2 activity|phospholipid binding central_nervous_system(1)|lung(6)|prostate(1)|stomach(1) 9 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000138)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.00032)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) ATTCCCATGGGCCTGCAGTAG 0.557000 7 52 0 0 1 0 0 CBX6 23466 broad.mit.edu 37 22 39262377 39262377 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr22:39262377C>T ENST00000407418.3 - 5 1199 c.1076G>A c.(1075-1077)cGc>cAc p.R359H CBX6_ENST00000216083.6_Missense_Mutation_p.R341H O95503 CBX6_HUMAN chromobox homolog 6 359 chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent PcG protein complex large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 6 Melanoma(58;0.04) CATCTCGGGGCGCCAGTCCCC 0.662000 16 53 0 0 1 0 0 IKZF2 22807 broad.mit.edu 37 2 213872491 213872491 + Nonsense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:213872491G>A ENST00000457361.1 - 8 1342 c.1174C>T c.(1174-1176)Cga>Tga p.R392* IKZF2_ENST00000374319.4_Nonsense_Mutation_p.R366*|IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000342002.2_Nonsense_Mutation_p.R398*|IKZF2_ENST00000451136.2_Nonsense_Mutation_p.R320*|IKZF2_ENST00000421754.2_Nonsense_Mutation_p.R318*|IKZF2_ENST00000434687.1_Nonsense_Mutation_p.R392*|IKZF2_ENST00000374327.4_Nonsense_Mutation_p.R247* NM_016260.2 NP_057344.2 Q9UKS7 IKZF2_HUMAN IKAROS family zinc finger 2 (Helios) 392 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R392*(1) NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Esophageal squamous(248;0.0559)|Renal(323;0.218) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792) TCCTGGGGTCGACTCTTTGGT 0.502000 44 130 0 0 1 0 0 EIF2B2 8892 broad.mit.edu 37 14 75475827 75475827 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:75475827A>G ENST00000266126.5 + 8 1072 c.992A>G c.(991-993)aAt>aGt p.N331S NM_014239.3 NP_055054.1 P49770 EI2BB_HUMAN eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa 331 cellular response to stimulus|myelination|oligodendrocyte development|ovarian follicle development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus cytosol|eukaryotic translation initiation factor 2B complex ATP binding|GTP binding|protein binding|translation initiation factor activity endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1) 11 BRCA - Breast invasive adenocarcinoma(234;0.00661) ATTGGTGGGAATGCACCTTCC 0.493000 68 224 0 0 1 0 0 ZNF699 374879 broad.mit.edu 37 19 9406700 9406700 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:9406700C>T ENST00000591998.1 - 6 1608 c.1380G>A c.(1378-1380)tcG>tcA p.S460S ZNF699_ENST00000308650.3_Silent_p.S460S Q32M78 ZN699_HUMAN zinc finger protein 699 460 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 CTCTAAAGGACGAGGGACAAC 0.448000 10 43 0 0 1 0 0 UGT1A3 54659 broad.mit.edu 37 2 234638394 234638394 + Missense_Mutation SNP A A C rs140766748 byFrequency TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:234638394A>C ENST00000482026.1 + 1 641 c.622A>C c.(622-624)Atg>Ctg p.M208L UGT1A5_ENST00000373414.3_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000480628.1_Intron NM_019093.2 NP_061966.1 p.M208L(5) breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 46 Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128) Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599) CATGACATTCATGCAAAGGGT 0.443000 5 318 0 0 1 0 0 PROSC 11212 broad.mit.edu 37 8 37632908 37632908 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:37632908A>G ENST00000328195.3 + 6 573 c.506A>G c.(505-507)aAc>aGc p.N169S NM_007198.3 NP_009129.1 O94903 PROSC_HUMAN proline synthetase co-transcribed homolog (bacterial) 169 pyridoxal phosphate binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1) 7 Lung NSC(58;0.174) BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) L-Proline(DB00172)|Pyridoxal Phosphate(DB00114) GAGCACATAAACGCCAAGTGT 0.478000 67 285 0 0 1 0 0 SPAG16 79582 broad.mit.edu 37 2 214239796 214239796 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:214239796G>A ENST00000331683.5 + 9 990 c.895G>A c.(895-897)Gcc>Acc p.A299T SPAG16_ENST00000447990.1_Missense_Mutation_p.A299T|SPAG16_ENST00000374309.3_Missense_Mutation_p.A205T|SPAG16_ENST00000272898.7_Missense_Mutation_p.A299T NM_024532.4 NP_078808.3 Q8N0X2 SPG16_HUMAN sperm associated antigen 16 299 cilium assembly cilium axoneme|flagellar axoneme endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 56 Renal(323;0.00461) UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599) TCTTCGTGAAGCCAGGGAACA 0.318000 14 51 0 0 1 0 0 PITPNM1 9600 broad.mit.edu 37 11 67264864 67264864 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:67264864G>A ENST00000356404.3 - 14 2209 c.1984C>T c.(1984-1986)Cgg>Tgg p.R662W PITPNM1_ENST00000436757.2_Missense_Mutation_p.R662W|PITPNM1_ENST00000534749.1_Missense_Mutation_p.R662W NM_001130848.1|NM_004910.2 NP_001124320.1|NP_004901.2 O00562 PITM1_HUMAN phosphatidylinositol transfer protein, membrane-associated 1 662 brain development|lipid metabolic process|phototransduction|protein transport cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody metal ion binding|phosphatidylinositol transporter activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3) 18 GTGCTTGCCCGCCGGGGCTCC 0.672000 20 52 0 0 1 0 0 BIRC6 57448 broad.mit.edu 37 2 32750697 32750697 + Splice_Site SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:32750697T>C ENST00000421745.2 + 59 12054 c.e59+2 NM_016252.3 NP_057336.3 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) TCTTGGCAGGTAATATTCCTC 0.373000 13 64 0 0 1 0 0 EDC3 80153 broad.mit.edu 37 15 74963875 74963875 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:74963875T>C ENST00000315127.4 - 3 586 c.405A>G c.(403-405)caA>caG p.Q135Q EDC3_ENST00000426797.3_Silent_p.Q135Q|EDC3_ENST00000568176.1_Silent_p.Q135Q NM_001142444.1|NM_025083.3 NP_001135916.1|NP_079359.2 Q96F86 EDC3_HUMAN enhancer of mRNA decapping 3 135 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol protein binding|RNA binding breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 16 TTGAGCACTGTTGCTGCTGCG 0.507000 22 103 0 0 1 0 0 SLC45A4 57210 broad.mit.edu 37 8 142228901 142228901 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:142228901C>T ENST00000519067.1 - 4 988 c.685G>A c.(685-687)Gtc>Atc p.V229I SLC45A4_ENST00000024061.3_Missense_Mutation_p.V229I|SLC45A4_ENST00000433583.2_Missense_Mutation_p.V222I|SLC45A4_ENST00000517878.1_Missense_Mutation_p.V280I Q5BKX6 S45A4_HUMAN solute carrier family 45, member 4 280 transport integral to membrane breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0493) AAGGCAGGGACGCCGTGCGGC 0.677000 84 200 0 0 1 0 0 OR1L6 392390 broad.mit.edu 37 9 125512809 125512809 + Missense_Mutation SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:125512809G>T ENST00000373684.1 + 1 791 c.791G>T c.(790-792)aGa>aTa p.R264I OR1L6_ENST00000304720.2_Missense_Mutation_p.R228I Q8NGR2 OR1L6_HUMAN olfactory receptor, family 1, subfamily L, member 6 264 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1) 12 ACTGTGCTCAGAATCCCCTCT 0.502000 16 30 6.44725e-10 6.67513e-10 1 1 0 DNAH1 25981 broad.mit.edu 37 3 52422520 52422520 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:52422520C>T ENST00000420323.2 + 58 9519 c.9258C>T c.(9256-9258)gaC>gaT p.D3086D NM_015512.4 NP_056327.4 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 3086 Stalk (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) AGGTGGAGGACGGCATCGCCA 0.617000 6 26 0 0 1 0 0 PLIN2 123 broad.mit.edu 37 9 19118342 19118342 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:19118342T>C ENST00000276914.2 - 7 1068 c.889A>G c.(889-891)Act>Gct p.T297A PLIN2_ENST00000411567.1_Missense_Mutation_p.T216A NM_001122.3 NP_001113.2 Q99541 PLIN2_HUMAN perilipin 2 297 cellular lipid metabolic process endoplasmic reticulum|extracellular region|lipid particle breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 19 GACTCATCAGTATCATCATAT 0.413000 21 62 0 0 1 0 0 BOD1L1 259282 broad.mit.edu 37 4 13605598 13605598 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:13605598T>C ENST00000040738.5 - 10 3061 c.2926A>G c.(2926-2928)Act>Gct p.T976A NM_148894.2 NP_683692.2 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1-like 1 976 Lys-rich. DNA binding GAAGAAGCAGTCTCTAATACA 0.378000 16 210 0 0 1 0 0 E4F1 1877 broad.mit.edu 37 16 2285271 2285271 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:2285271G>A ENST00000301727.4 + 14 2101 c.2053G>A c.(2053-2055)Ggc>Agc p.G685S E4F1_ENST00000564139.1_3'UTR|E4F1_ENST00000565090.1_Missense_Mutation_p.G508S NM_004424.3 NP_004415.2 Q66K89 E4F1_HUMAN E4F transcription factor 1 685 cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth cytoplasm|nucleoplasm DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(1) 1 GGCTAGCGCCGGCCACCAGAT 0.672000 35 108 0 0 1 0 0 TDRD6 221400 broad.mit.edu 37 6 46659508 46659508 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:46659508C>T ENST00000544460.1 + 1 3897 c.3643C>T c.(3643-3645)Cct>Tct p.P1215S TDRD6_ENST00000316081.6_Missense_Mutation_p.P1215S NM_001168359.1 NP_001161831.1 O60522 TDRD6_HUMAN tudor domain containing 6 1215 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 Lung(136;0.192) GTCATATAAACCTCAGATCAA 0.299000 14 53 0 0 1 0 0 TRIM31 11074 broad.mit.edu 37 6 30076801 30076801 + Splice_Site SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:30076801A>G ENST00000376734.3 - 5 893 c.e5+1 TRIM31-AS1_ENST00000440874.1_RNA|TRIM31_ENST00000485864.1_Splice_Site|TRIM31_ENST00000540829.1_Splice_Site NM_007028.3 NP_008959.3 Q9BZY9 TRI31_HUMAN tripartite motif containing 31 mitochondrion ligase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2) 15 GGCCCATCATACCTGCACAAG 0.468000 5 134 0 0 1 0 0 PARP10 84875 broad.mit.edu 37 8 145057500 145057500 + Missense_Mutation SNP G G A rs139166854 byFrequency TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:145057500G>A ENST00000313028.7 - 8 2351 c.2257C>T c.(2257-2259)Cgc>Tgc p.R753C PARP10_ENST00000524918.1_Missense_Mutation_p.R744C|PARP10_ENST00000525773.1_Missense_Mutation_p.R765C NM_032789.3 NP_116178.2 Q53GL7 PAR10_HUMAN poly (ADP-ribose) polymerase family, member 10 753 Myc binding. Golgi apparatus|nucleolus NAD+ ADP-ribosyltransferase activity|nucleotide binding NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2) 27 all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CGCTCCAGGCGAGCACGCAGC 0.706000 9 32 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9020058 9020058 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:9020058C>T ENST00000397910.4 - 21 37640 c.37437G>A c.(37435-37437)gaG>gaA p.E12479E NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 12481 SEA 3. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GTTGGCTCAGCTCCCAGTACA 0.552000 7 338 0 0 1 0 0 SEMA4D 10507 broad.mit.edu 37 9 92002325 92002325 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:92002325A>G ENST00000450295.1 - 12 2082 c.1306T>C c.(1306-1308)Tat>Cat p.Y436H SEMA4D_ENST00000343780.4_Missense_Mutation_p.Y436H|SEMA4D_ENST00000339861.4_Missense_Mutation_p.Y436H|SEMA4D_ENST00000420987.1_Missense_Mutation_p.Y436H|SEMA4D_ENST00000455551.2_Missense_Mutation_p.Y436H|SEMA4D_ENST00000356444.2_Missense_Mutation_p.Y436H|SEMA4D_ENST00000438547.2_Missense_Mutation_p.Y436H|SEMA4D_ENST00000422704.2_Missense_Mutation_p.Y436H Q92854 SEM4D_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D 436 Sema. anti-apoptosis|axon guidance|cell adhesion|immune response integral to membrane|plasma membrane receptor activity|receptor binding NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 34 ATGACATCATAGACAGTCCCA 0.527000 17 67 0 0 1 0 0 NRCAM 4897 broad.mit.edu 37 7 107816895 107816895 + Missense_Mutation SNP G G A rs147348539 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:107816895G>A ENST00000379028.3 - 27 3601 c.3131C>T c.(3130-3132)gCa>gTa p.A1044V NRCAM_ENST00000379024.4_Missense_Mutation_p.A1025V|NRCAM_ENST00000425651.2_Missense_Mutation_p.A1044V|NRCAM_ENST00000379022.4_Missense_Mutation_p.A1044V|NRCAM_ENST00000351718.4_Missense_Mutation_p.A1028V|NRCAM_ENST00000413765.2_Missense_Mutation_p.A1025V Q92823 NRCAM_HUMAN neuronal cell adhesion molecule 1044 Fibronectin type-III 4. angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly external side of plasma membrane|integral to plasma membrane ankyrin binding breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 65 AGTTGTTACTGCTTCCTCTGT 0.308000 32 110 0 0 1 0 0 NOS1 4842 broad.mit.edu 37 12 117660540 117660540 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:117660540G>A ENST00000317775.6 - 26 4640 c.3955C>T c.(3955-3957)Cgg>Tgg p.R1319W NOS1_ENST00000338101.4_Missense_Mutation_p.R1353W|NOS1_ENST00000344089.3_3'UTR NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 1319 multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) TCTGGCTCCCGGGAGTAAGCC 0.567000 104 168 0 0 1 0 0 GRWD1 83743 broad.mit.edu 37 19 48956004 48956004 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:48956004C>T ENST00000253237.5 + 7 1296 c.1063C>T c.(1063-1065)Ccc>Tcc p.P355S NM_031485.3 NP_113673.3 Q9BQ67 GRWD1_HUMAN glutamate-rich WD repeat containing 1 355 nucleolus endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1) 19 all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222) GCACGTGGCCCCCGTGACCTC 0.652000 33 112 0 0 1 0 0 PPP1R9A 55607 broad.mit.edu 37 7 94539456 94539456 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:94539456A>G ENST00000289495.5 + 1 247 c.31A>G c.(31-33)Acc>Gcc p.T11A PPP1R9A_ENST00000456331.2_Missense_Mutation_p.T11A|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.T11A|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.T11A|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.T11A|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.T11A NM_001166161.1 NP_001159633.1 Q9ULJ8 NEB1_HUMAN protein phosphatase 1, regulatory subunit 9A 11 Actin-binding. cell junction|synapse|synaptosome actin binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5) 71 all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09) STAD - Stomach adenocarcinoma(171;0.0031) AGGTGAACGAACCACTCTCAG 0.408000 HNSCC(28;0.073) 6 37 0 0 1 0 0 AHCTF1 25909 broad.mit.edu 37 1 247025261 247025261 + Splice_Site SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:247025261C>A ENST00000366508.1 - 28 3976 c.3840_splice c.e28+1 p.G1280_splice AHCTF1_ENST00000326225.3_Splice_Site_p.G1254_splice|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000391829.2_Splice_Site_p.G1245_splice Q8WYP5 ELYS_HUMAN AT hook containing transcription factor 1 1245 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 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) TCAAACTTACCCCAGGAATCC 0.343000 6 39 8.12818e-05 8.26188e-05 1 1 0 CNTN5 53942 broad.mit.edu 37 11 100170002 100170002 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:100170002T>C ENST00000524871.1 + 20 2784 c.2494T>C c.(2494-2496)Tcc>Ccc p.S832P CNTN5_ENST00000279463.3_Missense_Mutation_p.S832P|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000528682.1_Missense_Mutation_p.S832P|CNTN5_ENST00000418526.2_Missense_Mutation_p.S758P|CNTN5_ENST00000527185.1_Missense_Mutation_p.S832P NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 832 Fibronectin type-III 2. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) CTCTGAAGCTTCCAAATTCAT 0.423000 8 51 0 0 1 0 0 MAPKBP1 23005 broad.mit.edu 37 15 42113858 42113858 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:42113858A>G ENST00000457542.2 + 24 3081 c.2795A>G c.(2794-2796)gAa>gGa p.E932G MAPKBP1_ENST00000514566.1_Missense_Mutation_p.E932G|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.E938G|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.E771G|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.E815G NM_014994.2 NP_055809.2 O60336 MABP1_HUMAN mitogen-activated protein kinase binding protein 1 938 breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225) TCACAAGAGGAAGGGGTCTTT 0.512000 24 142 0 0 1 0 0 GJA8 2703 broad.mit.edu 37 1 147380141 147380141 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:147380141T>C ENST00000240986.4 + 2 112 c.59T>C c.(58-60)gTc>gCc p.V20A GJA8_ENST00000369235.1_Missense_Mutation_p.V20A NM_005267.4 NP_005258.2 P48165 CXA8_HUMAN gap junction protein, alpha 8, 50kDa 20 cell communication|visual perception connexon complex|integral to plasma membrane channel activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1) 37 all_hematologic(923;0.0276) CACTCCACCGTCATCGGCAGA 0.562000 5 157 0 0 1 0 0 CRTAC1 55118 broad.mit.edu 37 10 99695980 99695980 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:99695980T>C ENST00000370597.3 - 3 723 c.368A>G c.(367-369)gAc>gGc p.D123G CRTAC1_ENST00000370591.2_Missense_Mutation_p.D123G|CRTAC1_ENST00000298819.4_Missense_Mutation_p.D123G NM_018058.6 NP_060528.3 Q9NQ79 CRAC1_HUMAN cartilage acidic protein 1 123 proteinaceous extracellular matrix calcium ion binding autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 35 Colorectal(252;0.24) Epithelial(162;2.18e-10)|all cancers(201;3.27e-09) GCCGTCCCCGTCGATGTCGCA 0.632000 20 78 0 0 1 0 0 CTCF 10664 broad.mit.edu 37 16 67645477 67645477 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:67645477A>G ENST00000264010.4 + 3 1186 c.742A>G c.(742-744)Aat>Gat p.N248D CTCF_ENST00000401394.1_Intron NM_006565.3 NP_006556.1 P49711 CTCF_HUMAN CCCTC-binding factor (zinc finger protein) 248 chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 79 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577) AGTGGTTGGTAATATGAAGCC 0.393000 31 96 0 0 1 0 0 TTC18 118491 broad.mit.edu 37 10 75058827 75058827 + Missense_Mutation SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:75058827A>T ENST00000310715.3 - 15 1680 c.1560T>A c.(1558-1560)aaT>aaA p.N520K TTC18_ENST00000340329.3_Intron|TTC18_ENST00000401621.2_Missense_Mutation_p.N520K|TTC18_ENST00000394865.1_Missense_Mutation_p.N520K|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000493787.1_5'UTR NM_145170.3 NP_660153.3 Q5T0N1 TTC18_HUMAN tetratricopeptide repeat domain 18 520 binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Prostate(51;0.0119) CTCTAGAAATATTCTTGATCT 0.413000 22 50 0 0 1 0 0 SMC1B 27127 broad.mit.edu 37 22 45802679 45802679 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr22:45802679T>C ENST00000357450.4 - 3 365 c.366A>G c.(364-366)gaA>gaG p.E122E SMC1B_ENST00000404354.3_Silent_p.E122E NM_148674.3 NP_683515.3 Q8NDV3 SMC1B_HUMAN structural maintenance of chromosomes 1B 122 chromosome organization|meiosis chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus ATP binding breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 37 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) TGCCTATCTTTTCCAACTCTG 0.299000 23 69 0 0 1 0 0 BRF2 55290 broad.mit.edu 37 8 37704452 37704452 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:37704452A>G ENST00000220659.6 - 3 576 c.456T>C c.(454-456)acT>acC p.T152T BRF2_ENST00000520601.1_Silent_p.T152T NM_018310.3 NP_060780.2 Q9HAW0 BRF2_HUMAN BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit 152 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent nucleoplasm protein binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1) 12 Lung NSC(58;0.118)|all_lung(54;0.195) BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10) TCTGCATGTAAGTGCTAGAAA 0.527000 123 390 0 0 1 0 0 MUC6 4588 broad.mit.edu 37 11 1017983 1017983 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:1017983T>C ENST00000421673.2 - 31 4868 c.4818A>G c.(4816-4818)tcA>tcG p.S1606S NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 1606 Pro-rich.|Thr-rich. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) TCTGAGGGTGTGATGGGGTTG 0.547000 23 465 0 0 1 0 0 CHD2 1106 broad.mit.edu 37 15 93521521 93521521 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:93521521G>A ENST00000394196.4 + 21 3703 c.2635G>A c.(2635-2637)Gcg>Acg p.A879T CHD2_ENST00000557381.1_Missense_Mutation_p.A879T NM_001271.3 NP_001262.3 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 879 Helicase C-terminal. regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 47 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) TTTGGCTTCAGCGGACACAGT 0.493000 25 75 0 0 1 0 0 LPPR4 9890 broad.mit.edu 37 1 99771297 99771297 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:99771297A>G ENST00000370185.3 + 7 1520 c.1023A>G c.(1021-1023)agA>agG p.R341R LPPR4_ENST00000370184.1_Silent_p.R183R|LPPR4_ENST00000457765.1_Silent_p.R283R NM_014839.4 NP_055654.2 Q7Z2D5 LPPR4_HUMAN 341 phosphatidate phosphatase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 72 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) TTCAGCACAGAGACGCCCTCA 0.448000 39 105 0 0 1 0 0 RAP1GAP2 23108 broad.mit.edu 37 17 2898720 2898720 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:2898720T>C ENST00000254695.8 + 13 1094 c.1004T>C c.(1003-1005)gTt>gCt p.V335A RAP1GAP2_ENST00000540393.2_Missense_Mutation_p.V316A|RAP1GAP2_ENST00000542807.1_Missense_Mutation_p.V335A|RAP1GAP2_ENST00000366401.4_Missense_Mutation_p.V320A NM_015085.4 NP_055900.4 Q684P5 RPGP2_HUMAN RAP1 GTPase activating protein 2 335 Rap-GAP. regulation of small GTPase mediated signal transduction centrosome|cytosol|perinuclear region of cytoplasm GTPase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 11 ATGTTTCACGTTTCCACAAAG 0.587000 41 136 0 0 1 0 0 FOXJ2 55810 broad.mit.edu 37 12 8201971 8201971 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:8201971T>C ENST00000162391.3 + 9 2486 c.1341T>C c.(1339-1341)agT>agC p.S447S FOXJ2_ENST00000428177.2_Silent_p.S447S NM_018416.2 NP_060886.1 Q9P0K8 FOXJ2_HUMAN forkhead box J2 447 embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development nucleolus|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 16 Kidney(36;0.0944) TGATGGAGAGTCTACGACAGG 0.522000 51 194 0 0 1 0 0 LRIG2 9860 broad.mit.edu 37 1 113638610 113638610 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:113638610A>G ENST00000361127.4 + 7 1116 c.918A>G c.(916-918)gcA>gcG p.A306A NM_014813.1 NP_055628.1 O94898 LRIG2_HUMAN leucine-rich repeats and immunoglobulin-like domains 2 306 cytoplasm|integral to membrane|plasma membrane breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1) 31 Lung SC(450;0.246) all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986) Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15) GCCCTGATGCATGGGAGTTCT 0.448000 10 46 0 0 1 0 0 OSBPL5 114879 broad.mit.edu 37 11 3128514 3128514 + Missense_Mutation SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:3128514C>A ENST00000263650.7 - 9 1197 c.1038G>T c.(1036-1038)caG>caT p.Q346H OSBPL5_ENST00000348039.5_Missense_Mutation_p.Q278H|OSBPL5_ENST00000542243.1_Intron|OSBPL5_ENST00000525498.1_Missense_Mutation_p.Q257H|OSBPL5_ENST00000389989.3_Missense_Mutation_p.Q278H NM_020896.3 NP_065947.1 Q9H0X9 OSBL5_HUMAN oxysterol binding protein-like 5 346 cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport cytosol oxysterol binding|protein binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 25 all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207) CCTCCTGGACCTGCTCCACAT 0.672000 32 117 3.03874e-20 3.202e-20 1 1 0 MROH2B 133558 broad.mit.edu 37 5 41018457 41018457 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:41018457T>C ENST00000399564.4 - 27 3199 c.2749A>G c.(2749-2751)Aca>Gca p.T917A MROH2B_ENST00000506092.2_Missense_Mutation_p.T472A NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B ATATCATTTGTCAGCACTTTC 0.408000 7 21 0 0 1 0 0 LDLRAD3 143458 broad.mit.edu 37 11 36103271 36103271 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:36103271C>T ENST00000315571.5 + 3 283 c.262C>T c.(262-264)Cgc>Tgc p.R88C LDLRAD3_ENST00000528989.1_Missense_Mutation_p.R39C|LDLRAD3_ENST00000524419.1_Missense_Mutation_p.R39C NM_174902.2 NP_777562.1 Q86YD5 LRAD3_HUMAN low density lipoprotein receptor class A domain containing 3 88 LDL-receptor class A 2. integral to membrane receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1) 28 all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177) all_hematologic(20;0.124) CATCATTGGTCGCTTCCGGTG 0.517000 37 94 0 0 1 0 0 TENM1 10178 broad.mit.edu 37 X 124029909 124029909 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chrX:124029909A>G ENST00000422452.2 - 2 462 c.399T>C c.(397-399)agT>agC p.S133S TENM1_ENST00000371130.3_Silent_p.S133S NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 ACAAACAGGAACTATGCTCTG 0.458000 73 102 0 0 1 0 0 PPFIA4 8497 broad.mit.edu 37 1 203026055 203026055 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:203026055G>A ENST00000367240.2 + 18 2848 c.2321G>A c.(2320-2322)aGt>aAt p.S774N PPFIA4_ENST00000599966.1_Missense_Mutation_p.S289N|PPFIA4_ENST00000295706.4_Missense_Mutation_p.S289N|PPFIA4_ENST00000414050.2_Missense_Mutation_p.S502N|PPFIA4_ENST00000447715.2_Missense_Mutation_p.S773N|PPFIA4_ENST00000272198.6_Missense_Mutation_p.S289N O75335 LIPA4_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 289 cell communication cell surface|cytoplasm protein binding NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 50 ATCCAGCTGAGTCGGGATGGA 0.612000 17 72 0 0 1 0 0 KCNT2 343450 broad.mit.edu 37 1 196434491 196434491 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:196434491A>G ENST00000367433.5 - 8 671 c.570T>C c.(568-570)cgT>cgC p.R190R KCNT2_ENST00000294725.8_Silent_p.R190R|KCNT2_ENST00000367431.4_Silent_p.R190R|KCNT2_ENST00000451324.2_5'UTR|KCNT2_ENST00000498426.1_5'UTR Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 190 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 CAGACTGTGTACGCTGAATGG 0.279000 15 52 0 0 1 0 0 PRSS16 10279 broad.mit.edu 37 6 27222538 27222538 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:27222538T>C ENST00000230582.3 + 10 1232 c.1217T>C c.(1216-1218)cTa>cCa p.L406P PRSS16_ENST00000421826.2_Missense_Mutation_p.L149P|PRSS16_ENST00000377456.2_Intron NM_005865.3 NP_005856.1 Q9NQE7 TSSP_HUMAN protease, serine, 16 (thymus) 406 protein catabolic process|proteolysis cytoplasmic membrane-bounded vesicle serine-type peptidase activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 26 CAGCTAGACCTATGTGAGCAG 0.557000 6 163 0 0 1 0 0 FN1 2335 broad.mit.edu 37 2 216284010 216284010 + Missense_Mutation SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:216284010G>T ENST00000354785.4 - 12 2143 c.1774C>A c.(1774-1776)Cgt>Agt p.R592S FN1_ENST00000421182.1_Missense_Mutation_p.R592S|FN1_ENST00000359671.1_Missense_Mutation_p.R592S|FN1_ENST00000357867.4_Missense_Mutation_p.R592S|FN1_ENST00000357009.2_Missense_Mutation_p.R592S|FN1_ENST00000336916.4_Missense_Mutation_p.R592S|FN1_ENST00000323926.6_Missense_Mutation_p.R592S|FN1_ENST00000345488.5_Missense_Mutation_p.R592S|FN1_ENST00000346544.3_Missense_Mutation_p.R592S|FN1_ENST00000356005.4_Missense_Mutation_p.R592S|FN1_ENST00000426059.1_Missense_Mutation_p.R592S|FN1_ENST00000432072.2_Missense_Mutation_p.R592S|FN1_ENST00000446046.1_Missense_Mutation_p.R592S|FN1_ENST00000443816.1_Missense_Mutation_p.R592S P02751 FINC_HUMAN fibronectin 1 592 Collagen-binding.|Fibronectin type-I 9. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CCAATGCCACGGCCATAGCAG 0.458000 16 74 0.000422831 0.000428339 1 1 0 PIK3CA 5290 broad.mit.edu 37 3 178942528 178942528 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:178942528C>T ENST00000263967.3 + 16 2492 c.2335C>T c.(2335-2337)Ctg>Ttg p.L779L NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 779 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) AAAAAGGCCACTGTGGTTGAA 0.353000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 18 92 0 0 1 0 0 ABCC9 10060 broad.mit.edu 37 12 22013987 22013987 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:22013987T>C ENST00000261200.4 - 19 2341 c.2342A>G c.(2341-2343)tAc>tGc p.Y781C ABCC9_ENST00000345162.2_Missense_Mutation_p.Y745C|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261201.4_Missense_Mutation_p.Y781C NM_020297.2 NP_064693.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 781 ABC transporter 1. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) GACAGCTTTGTACCTTTGGGA 0.328000 19 63 0 0 1 0 0 CDH4 1002 broad.mit.edu 37 20 60470078 60470078 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:60470078A>G ENST00000360469.5 + 8 1251 c.1163A>G c.(1162-1164)aAc>aGc p.N388S CDH4_ENST00000543233.1_Missense_Mutation_p.N314S NM_001794.3 NP_001785.2 P55283 CADH4_HUMAN cadherin 4, type 1, R-cadherin (retinal) 388 Cadherin 2. adherens junction organization|cell junction assembly calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) GTGAATGACAACCCGCCAGAA 0.567000 50 132 0 0 1 0 0 CPA4 51200 broad.mit.edu 37 7 129962361 129962361 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:129962361T>C ENST00000222482.4 + 11 1139 c.1111T>C c.(1111-1113)Tat>Cat p.Y371H CPA4_ENST00000493259.1_Missense_Mutation_p.Y267H|CPA4_ENST00000445470.2_Missense_Mutation_p.Y338H NM_016352.3 NP_057436.2 Q9UI42 CBPA4_HUMAN carboxypeptidase A4 371 histone acetylation|proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Melanoma(18;0.0435) CGACTGGGCATATGACAACGG 0.527000 4 155 0 0 1 0 0 NIPBL 25836 broad.mit.edu 37 5 36975950 36975950 + Missense_Mutation SNP T T A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:36975950T>A ENST00000282516.8 + 9 1440 c.941T>A c.(940-942)aTc>aAc p.I314N NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Missense_Mutation_p.I314N NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 314 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) CCACCAGATATCTTGCTAGAT 0.373000 21 116 0 0 1 0 0 PCDHB12 56124 broad.mit.edu 37 5 140589601 140589601 + Missense_Mutation SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:140589601C>A ENST00000239450.2 + 1 1311 c.1122C>A c.(1120-1122)gaC>gaA p.D374E PCDHB12_ENST00000541609.1_Missense_Mutation_p.D37E NM_018932.3 NP_061755.1 Q9Y5F1 PCDBC_HUMAN 374 Cadherin 4. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GAGACAGAGACTCTGGGGACA 0.443000 15 64 6.31663e-08 6.50258e-08 1 1 0 DNAH9 1770 broad.mit.edu 37 17 11738013 11738013 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:11738013A>G ENST00000262442.3 + 49 9373 c.9305A>G c.(9304-9306)gAa>gGa p.E3102G DNAH9_ENST00000454412.2_Missense_Mutation_p.E3102G NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 3102 Stalk (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CAGAAAAATGAAGATGCAGAC 0.507000 11 29 0 0 1 0 0 AGTPBP1 23287 broad.mit.edu 37 9 88272527 88272527 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:88272527T>C ENST00000337006.4 - 9 981 c.520A>G c.(520-522)Ata>Gta p.I174V AGTPBP1_ENST00000376080.1_Missense_Mutation_p.I174V|AGTPBP1_ENST00000357081.3_Silent_p.G244G|AGTPBP1_ENST00000432218.1_Silent_p.G82G|AGTPBP1_ENST00000376081.4_Intron|AGTPBP1_ENST00000376083.3_Silent_p.G244G|AGTPBP1_ENST00000491784.1_5'UTR|AGTPBP1_ENST00000376109.3_Silent_p.G296G Q9UPW5 CBPC1_HUMAN ATP/GTP binding protein 1 0 C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis cytosol|mitochondrion|nucleus metallocarboxypeptidase activity|tubulin binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3) 44 CTTGGACATATCCTCTGTCTA 0.343000 3 34 0 0 1 0 0 UMOD 7369 broad.mit.edu 37 16 20355487 20355487 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:20355487T>C ENST00000396134.2 - 7 1412 c.1289A>G c.(1288-1290)gAa>gGa p.E430G UMOD_ENST00000396138.4_Missense_Mutation_p.E446G|UMOD_ENST00000302509.4_Missense_Mutation_p.E397G|UMOD_ENST00000396142.2_Missense_Mutation_p.E397G|UMOD_ENST00000424589.1_Missense_Mutation_p.E430G|UMOD_ENST00000570689.1_Missense_Mutation_p.E397G NM_001278614.1 NP_001265543.1 P07911 UROM_HUMAN uromodulin 397 ZP. cellular defense response|negative regulation of cell proliferation anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole calcium ion binding endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 GGCATGGGTTTCATTCCTCTG 0.517000 17 61 0 0 1 0 0 BST1 683 broad.mit.edu 37 4 15716967 15716967 + Silent SNP A A C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:15716967A>C ENST00000382346.3 + 6 688 c.639A>C c.(637-639)ggA>ggC p.G213G BST1_ENST00000265016.4_Silent_p.G198G Q10588 BST1_HUMAN bone marrow stromal cell antigen 1 198 humoral immune response|multicellular organismal development anchored to membrane|extrinsic to membrane|plasma membrane binding|NAD+ nucleosidase activity central_nervous_system(1)|large_intestine(1)|lung(2)|stomach(3)|urinary_tract(1) 8 AGCCAACAGGAGCCTATCCCA 0.373000 8 41 0 0 1 0 0 SUPT16H 11198 broad.mit.edu 37 14 21836475 21836475 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:21836475T>C ENST00000216297.2 - 7 1246 c.908A>G c.(907-909)aAc>aGc p.N303S NM_007192.3 NP_009123.1 Q9Y5B9 SP16H_HUMAN suppressor of Ty 16 homolog (S. cerevisiae) 303 DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|nucleoplasm GTP binding breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_cancers(95;0.00115) Epithelial(56;1.62e-06)|all cancers(55;1.49e-05) GBM - Glioblastoma multiforme(265;0.0159) GAGCAAAAAGTTATAATTTTC 0.408000 9 99 0 0 1 0 0 OPHN1 4983 broad.mit.edu 37 X 67316710 67316710 + Splice_Site SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chrX:67316710A>G ENST00000355520.5 - 19 2328 c.e19+1 OPHN1_ENST00000484842.1_Splice_Site|OPHN1_ENST00000540071.1_Splice_Site NM_002547.2 NP_002538.1 O60890 OPHN1_HUMAN oligophrenin 1 axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension axon|cell junction|cytosol|dendritic spine|synapse cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2) 31 GAAAATGCATACCTTGCCAAA 0.478000 7 77 0 0 1 0 0 TDG 6996 broad.mit.edu 37 12 104376936 104376936 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:104376936C>T ENST00000392872.3 + 6 871 c.637C>T c.(637-639)Cgt>Tgt p.R213C TDG_ENST00000544861.1_Missense_Mutation_p.R70C|TDG_ENST00000266775.9_Missense_Mutation_p.R209C|TDG_ENST00000542036.1_Intron NM_003211.4 NP_003202.3 Q13569 TDG_HUMAN thymine-DNA glycosylase 213 depyrimidination|mismatch repair nucleoplasm damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 24 BRCA - Breast invasive adenocarcinoma(302;0.00114) TGAAGGAGGACGTATTCTAGT 0.249000 Base excision repair (BER), DNA glycosylases 47 268 0 0 1 0 0 MIB1 57534 broad.mit.edu 37 18 19423102 19423102 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr18:19423102A>G ENST00000261537.6 + 14 2237 c.1973A>G c.(1972-1974)aAc>aGc p.N658S MIB1_ENST00000578646.1_3'UTR NM_020774.2 NP_065825.1 Q86YT6 MIB1_HUMAN mindbomb E3 ubiquitin protein ligase 1 658 Notch signaling pathway centrosome|nuclear membrane|plasma membrane ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5) 27 STAD - Stomach adenocarcinoma(5;0.212) GGTAATGCAAACCTGGATATC 0.353000 10 21 0 0 1 0 0 B3GNT4 79369 broad.mit.edu 37 12 122691149 122691149 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:122691149T>C ENST00000535274.1 + 1 2003 c.276T>C c.(274-276)gaT>gaC p.D92D B3GNT4_ENST00000546192.1_Silent_p.D92D|B3GNT4_ENST00000545141.1_Intron|B3GNT4_ENST00000324189.4_Silent_p.D117D Q9C0J1 B3GN4_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 117 protein glycosylation Golgi membrane|integral to membrane galactosyltransferase activity NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 13 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222) GTTCCAAGGATACCTTCTTGC 0.607000 6 427 0 0 1 0 0 PCDHB3 56132 broad.mit.edu 37 5 140481581 140481581 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:140481581G>A ENST00000231130.2 + 1 1348 c.1348G>A c.(1348-1350)Gcc>Acc p.A450T AC005754.7_ENST00000607216.1_RNA NM_018937.2 NP_061760.1 Q9Y5E6 PCDB3_HUMAN 450 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CAACGCCCCCGCCTTCACCCA 0.562000 84 214 0 0 1 0 0 MAP3K1 4214 broad.mit.edu 37 5 56180610 56180610 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:56180610G>A ENST00000399503.3 + 16 3939 c.3939G>A c.(3937-3939)acG>acA p.T1313T NM_005921.1 NP_005912.1 Q13233 M3K1_HUMAN mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase 1313 Protein kinase. cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol ATP binding|zinc ion binding NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1) 57 Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223) OV - Ovarian serous cystadenocarcinoma(10;6.08e-40) TGGGAGCCACGTGTGAGAAGA 0.363000 6 39 0 0 1 0 0 ULK4 54986 broad.mit.edu 37 3 41977350 41977350 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:41977350A>G ENST00000301831.4 - 4 783 c.321T>C c.(319-321)agT>agC p.S107S ULK4_ENST00000420927.1_Silent_p.S107S NM_017886.2 NP_060356.2 Q96C45 ULK4_HUMAN unc-51 like kinase 4 107 Protein kinase. ATP binding|protein serine/threonine kinase activity breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1) 22 KIRC - Kidney renal clear cell carcinoma(284;0.214) GATGTAATCCACTAATCAGGT 0.358000 10 96 0 0 1 0 0 TNRC6B 23112 broad.mit.edu 37 22 40660731 40660731 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr22:40660731A>G ENST00000454349.2 + 5 708 c.497A>G c.(496-498)aAt>aGt p.N166S TNRC6B_ENST00000301923.9_Intron|TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000335727.8_Missense_Mutation_p.N166S NM_001162501.1 NP_001155973.1 Q9UPQ9 TNR6B_HUMAN trinucleotide repeat containing 6B 166 gene silencing by RNA|regulation of translation cytoplasmic mRNA processing body nucleotide binding|RNA binding breast(1) 1 AATTATGCAAATTCCACTTGG 0.488000 22 36 0 0 1 0 0 IZUMO2 126123 broad.mit.edu 37 19 50666224 50666224 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:50666224T>C ENST00000293405.3 - 1 228 c.228A>G c.(226-228)aaA>aaG p.K76K NM_152358.2 NP_689571.2 Q6UXV1 IZUM2_HUMAN IZUMO family member 2 76 integral to membrane cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1) 7 ACGCACCCACTTTCCCCACAA 0.687000 24 73 0 0 1 0 0 COL19A1 1310 broad.mit.edu 37 6 70639566 70639566 + Nonsense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:70639566C>T ENST00000322773.4 + 6 742 c.640C>T c.(640-642)Cga>Tga p.R214* NM_001858.4 NP_001849.2 Q14993 COJA1_HUMAN collagen, type XIX, alpha 1 214 TSP N-terminal. cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 109 TATTGCTACGCGAGCTTCAGA 0.363000 30 91 0 0 1 0 0 DSC3 1825 broad.mit.edu 37 18 28602353 28602353 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr18:28602353C>T ENST00000434452.1 - 7 1045 c.891G>A c.(889-891)gtG>gtA p.V297V DSC3_ENST00000360428.4_Silent_p.V297V NM_024423.2 NP_077741.2 Q14574 DSC3_HUMAN desmocollin 3 297 Cadherin 2. homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 OV - Ovarian serous cystadenocarcinoma(10;0.125) TGCTGGGATGCACAGAAAAGA 0.483000 24 79 0 0 1 0 0 IMPACT 55364 broad.mit.edu 37 18 22020584 22020584 + Splice_Site SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr18:22020584T>C ENST00000284202.4 + 6 631 c.e6+2 NM_018439.3 NP_060909.1 Q9P2X3 IMPCT_HUMAN impact RWD domain protein endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2) 16 all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991) CTCGGACAGGTATAATGTTAC 0.338000 32 102 0 0 1 0 0 ZBED1 9189 broad.mit.edu 37 X 2408097 2408097 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chrX:2408097C>T ENST00000381223.4 - 2 867 c.664G>A c.(664-666)Gcc>Acc p.A222T ZBED1_ENST00000381218.3_Missense_Mutation_p.A222T|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381222.2_Missense_Mutation_p.A222T NM_001171135.1|NM_001171136.1|NM_004729.3 NP_001164606.1|NP_001164607.1|NP_004720.1 O96006 ZBED1_HUMAN zinc finger, BED-type containing 1 222 nuclear chromosome DNA binding|metal ion binding|protein dimerization activity|transposase activity endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1) 25 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) CAGTTGGGGGCGCCCAGGCCC 0.647000 74 203 0 0 1 0 0 PTPRH 5794 broad.mit.edu 37 19 55708058 55708058 + Missense_Mutation SNP C C G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:55708058C>G ENST00000376350.3 - 10 2111 c.2089G>C c.(2089-2091)Gag>Cag p.E697Q PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Missense_Mutation_p.E519Q NM_002842.3 NP_002833.3 Q9HD43 PTPRH_HUMAN protein tyrosine phosphatase, receptor type, H 697 Fibronectin type-III 8. apoptosis cytoplasm|integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 67 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0479) ACCTCCAACTCAAAGGCCTCG 0.617000 28 54 0 0 1 0 0 FBXL4 26235 broad.mit.edu 37 6 99353378 99353378 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:99353378G>A ENST00000369244.2 - 6 1455 c.1027C>T c.(1027-1029)Cgc>Tgc p.R343C FBXL4_ENST00000229971.1_Missense_Mutation_p.R343C Q9UKA2 FBXL4_HUMAN F-box and leucine-rich repeat protein 4 343 ubiquitin-dependent protein catabolic process cytoplasm|nucleus|ubiquitin ligase complex central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2) 18 all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197) BRCA - Breast invasive adenocarcinoma(108;0.0413) AGAGTGCAGCGAGACTGTAGA 0.448000 40 114 0 0 1 0 0 XIST 7503 broad.mit.edu 37 X 73066398 73066398 + RNA SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chrX:73066398G>T ENST00000429829.1 - 0 6190 NR_001564.2 GTGCGATTACGCACATAAATG 0.473000 37 37 4.14481e-20 4.36647e-20 1 1 0 CPB2 1361 broad.mit.edu 37 13 46632473 46632473 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr13:46632473T>C ENST00000181383.4 - 9 856 c.840A>G c.(838-840)ggA>ggG p.G280G CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606243.1_RNA|CPB2_ENST00000439329.3_Silent_p.G243G|CPB2-AS1_ENST00000606991.1_RNA|CPB2-AS1_ENST00000606351.1_RNA NM_001872.3 NP_001863.3 Q96IY4 CBPB2_HUMAN carboxypeptidase B2 (plasma) 280 blood coagulation|fibrinolysis|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;5.44e-05) CAGGATAAAGTCCACAGTAGG 0.418000 4 113 0 0 1 0 0 WDR3 10885 broad.mit.edu 37 1 118497252 118497252 + Splice_Site SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:118497252T>C ENST00000349139.4 + 23 2456 c.e23+2 SPAG17_ENST00000336338.5_Intron NM_006784.2 NP_006775.1 Q9UNX4 WDR3_HUMAN WD repeat domain 3 nuclear membrane|nucleolus breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1) 49 Esophageal squamous(2;0.162) all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244) OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185) AGTATCTCAGTGAGTAAAATG 0.363000 22 90 0 0 1 0 0 ARPP21 10777 broad.mit.edu 37 3 35778820 35778820 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:35778820C>T ENST00000187397.4 + 16 2066 c.1610C>T c.(1609-1611)cCg>cTg p.P537L ARPP21_ENST00000458225.1_Missense_Mutation_p.P503L|ARPP21_ENST00000337271.5_Missense_Mutation_p.P483L|ARPP21_ENST00000417925.1_Missense_Mutation_p.P503L|ARPP21_ENST00000444190.1_Missense_Mutation_p.P483L NM_016300.4 NP_057384.2 Q9UBL0 ARP21_HUMAN cAMP-regulated phosphoprotein, 21kDa 537 Gln-rich. cytoplasm nucleic acid binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 GTCCAGCCACCGCAGCCACAG 0.642000 13 51 0 0 1 0 0 WWC3 55841 broad.mit.edu 37 X 10098008 10098008 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chrX:10098008G>A ENST00000380861.4 + 18 2836 c.2445G>A c.(2443-2445)gcG>gcA p.A815A WWC3_ENST00000454666.1_Silent_p.A815A NM_015691.3 NP_056506.2 Q9ULE0 WWC3_HUMAN WWC family member 3 815 NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 52 GTTGGCAAGCGGACTCGGTGG 0.547000 4 86 0 0 1 0 0 UNC13A 23025 broad.mit.edu 37 19 17740047 17740047 + Splice_Site SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:17740047A>G ENST00000428389.2 - 32 4017 c.e32+1 UNC13A_ENST00000552293.1_Splice_Site|UNC13A_ENST00000519716.2_Splice_Site|UNC13A_ENST00000551649.1_Splice_Site|UNC13A_ENST00000252773.7_Splice_Site|UNC13A_ENST00000550896.1_Splice_Site Q9UPW8 UN13A_HUMAN unc-13 homolog A (C. elegans) exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2) 61 CCCTCAGGTCACCACTTTCTC 0.572000 5 22 0 0 1 0 0 DHRS7C 201140 broad.mit.edu 37 17 9680546 9680546 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:9680546T>C ENST00000330255.4 - 4 550 c.538A>G c.(538-540)Atc>Gtc p.I180V DHRS7C_ENST00000571134.1_Missense_Mutation_p.I179V NM_001220493.1 NP_001207422.1 A6NNS2 DRS7C_HUMAN dehydrogenase/reductase (SDR family) member 7C 180 extracellular region binding|oxidoreductase activity NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9) 15 TTCCCTTGGATATTATTCACT 0.413000 7 47 0 0 1 0 0 PCDH10 57575 broad.mit.edu 37 4 134071473 134071473 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:134071473A>G ENST00000264360.4 + 1 1004 c.178A>G c.(178-180)Agg>Ggg p.R60G NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 60 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) GCCCAACTCAAGGACCCCTTA 0.527000 5 168 0 0 1 0 0 CNOT3 4849 broad.mit.edu 37 19 54657010 54657010 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:54657010C>T ENST00000358389.3 + 17 2441 c.1587C>T c.(1585-1587)cgC>cgT p.R529R CNOT3_ENST00000496327.1_Intron|CNOT3_ENST00000406403.1_Intron|CNOT3_ENST00000221232.5_Intron O75175 CNOT3_HUMAN CCR4-NOT transcription complex, subunit 3 336 Pro-rich. nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|nucleus protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3) 28 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GGCTCACCCGCGGCCCCTCCC 0.652000 17 48 0 0 1 0 0 ABCA3 21 broad.mit.edu 37 16 2347421 2347421 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:2347421G>A ENST00000301732.5 - 17 2872 c.2172C>T c.(2170-2172)gaC>gaT p.D724D ABCA3_ENST00000382381.3_Silent_p.D666D NM_001089.2 NP_001080.2 Q99758 ABCA3_HUMAN ATP-binding cassette, sub-family A (ABC1), member 3 724 ABC transporter 1. response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1) 70 Ovarian(90;0.17) GGTCAGCCTCGTCCATGAAGT 0.617000 42 157 0 0 1 0 0 TIGD7 91151 broad.mit.edu 37 16 3350059 3350059 + Missense_Mutation SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:3350059A>T ENST00000396862.1 - 2 2384 c.556T>A c.(556-558)Tca>Aca p.S186T TIGD7_ENST00000268674.2_Missense_Mutation_p.S186T NM_033208.3 NP_149985.2 Q6NT04 TIGD7_HUMAN tigger transposable element derived 7 186 DDE. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1) 12 tctggcattgacttccaaaag 0.403000 62 156 0 0 1 0 0 PDZRN3 23024 broad.mit.edu 37 3 73450159 73450159 + Splice_Site SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:73450159G>A ENST00000263666.4 - 5 1282 c.1166_splice c.e5-1 p.H390_splice PDZRN3_ENST00000462146.2_Splice_Site_p.H47_splice|PDZRN3_ENST00000466348.1_5'UTR|PDZRN3_ENST00000535920.1_Splice_Site_p.H112_splice|PDZRN3_ENST00000479530.1_Splice_Site_p.H107_splice|PDZRN3_ENST00000466780.1_Splice_Site_p.H47_splice NM_015009.1 NP_055824.1 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 390 ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) GCTGAGGGATGCCTGAAAAGA 0.478000 7 94 0 0 1 0 0 PDE4D 5144 broad.mit.edu 37 5 59064256 59064256 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:59064256T>C ENST00000507116.1 - 1 215 c.80A>G c.(79-81)gAa>gGa p.E27G PDE4D_ENST00000546160.1_Intron|PDE4D_ENST00000340635.6_Intron|PDE4D_ENST00000502484.2_Intron|PDE4D_ENST00000502575.1_Missense_Mutation_p.E27G NM_001197218.1 NP_001184147.1 Q08499 PDE4D_HUMAN phosphodiesterase 4D, cAMP-specific 0 signal transduction cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1) 15 all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954) Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276) Adenosine monophosphate(DB00131)|Dyphylline(DB00651) CACAAGGTCTTCGTTCAGCCA 0.493000 47 117 0 0 1 0 0 MIPOL1 145282 broad.mit.edu 37 14 37777705 37777705 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:37777705G>A ENST00000327441.7 + 10 1275 c.809G>A c.(808-810)cGg>cAg p.R270Q MIPOL1_ENST00000539062.2_Missense_Mutation_p.R239Q|MIPOL1_ENST00000556451.1_Missense_Mutation_p.R239Q|MIPOL1_ENST00000537471.1_Missense_Mutation_p.R270Q|MIPOL1_ENST00000536774.1_Missense_Mutation_p.R89Q|MIPOL1_ENST00000396294.2_Missense_Mutation_p.R270Q|MIPOL1_ENST00000545536.1_Missense_Mutation_p.R239Q NM_001195296.1|NM_001195297.1|NM_138731.6 NP_001182225.1|NP_001182226.1|NP_620059.1 Q8TD10 MIPO1_HUMAN mirror-image polydactyly 1 270 breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 23 Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196) GBM - Glioblastoma multiforme(112;0.0358) ATAGAAGAACGGGATGCTGCC 0.348000 33 90 0 0 1 0 0 PAX1 5075 broad.mit.edu 37 20 21687091 21687091 + Missense_Mutation SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:21687091A>T ENST00000398485.2 + 2 356 c.302A>T c.(301-303)gAg>gTg p.E101V PAX1_ENST00000460221.1_Intron|PAX1_ENST00000444366.2_Missense_Mutation_p.E77V NM_001257096.1|NM_006192.4 NP_001244025.1|NP_006183.2 P15863 PAX1_HUMAN paired box 1 101 Paired. regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter nucleus DNA binding autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 38 ACGTATGGCGAGGTGAACCAG 0.672000 17 75 0 0 1 0 0 NR0B1 190 broad.mit.edu 37 X 30326381 30326381 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chrX:30326381T>C ENST00000378970.4 - 1 1334 c.1100A>G c.(1099-1101)aAa>aGa p.K367R NR0B1_ENST00000453287.1_Missense_Mutation_p.K367R|NR0B1_ENST00000378963.1_Missense_Mutation_p.K72R NM_000475.4 NP_000466.2 P51843 NR0B1_HUMAN nuclear receptor subfamily 0, group B, member 1 367 Ligand-binding (By similarity). adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2) 24 Dexamethasone(DB01234)|Tretinoin(DB00755) ACTCCAGCATTTGGAAAGAAA 0.607000 OREG0019719 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 63 0 0 1 0 0 NUTM2A 728118 broad.mit.edu 37 10 88988124 88988124 + Missense_Mutation SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:88988124C>A ENST00000381689.4 + 2 818 c.487C>A c.(487-489)Ccg>Acg p.P163T NUTM2A-AS1_ENST00000451940.2_RNA|NUTM2A_ENST00000381707.2_Missense_Mutation_p.P163T NUT family member 2A AGCACACGGGCCGCTCCTTGT 0.697000 19 70 1.50039e-11 1.55951e-11 1 1 0 ASPG 374569 broad.mit.edu 37 14 104570983 104570983 + Missense_Mutation SNP T T A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:104570983T>A ENST00000551177.1 + 9 1053 c.961T>A c.(961-963)Tca>Aca p.S321T ASPG_ENST00000455920.2_Missense_Mutation_p.S321T|ASPG_ENST00000546892.2_Missense_Mutation_p.S321T NM_001080464.2 NP_001073933.2 Q86U10 LPP60_HUMAN asparaginase homolog (S. cerevisiae) 321 Asparaginase. lipid catabolic process 1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 11 CGGCGTCATCTCAGGCTTCGA 0.682000 5 27 0 0 1 0 0 YRDC 79693 broad.mit.edu 37 1 38272869 38272869 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:38272869T>C ENST00000373044.2 - 2 412 c.408A>G c.(406-408)gtA>gtG p.V136V C1orf122_ENST00000373043.1_5'UTR NM_024640.3 NP_078916.3 Q86U90 YRDC_HUMAN yrdC N(6)-threonylcarbamoyltransferase domain containing 136 YrdC-like. negative regulation of transport membrane|mitochondrion lung(2)|upper_aerodigestive_tract(1) 3 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) GCCCCTCAGGTACTCTCACAC 0.507000 29 59 0 0 1 0 0 ZNF584 201514 broad.mit.edu 37 19 58928590 58928590 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:58928590T>C ENST00000306910.4 + 4 1228 c.705T>C c.(703-705)gtT>gtC p.V235V ZNF584_ENST00000593920.1_Silent_p.V190V|ZNF584_ENST00000599238.1_3'UTR NM_173548.1 NP_775819.1 Q8IVC4 ZN584_HUMAN zinc finger protein 584 235 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 14 all_cancers(17;5.3e-17)|all_epithelial(17;3.71e-12)|Lung NSC(17;8.3e-05)|Colorectal(82;0.000147)|all_lung(17;0.000386)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0271) ACCAGAAGGTTCACACAGGCA 0.458000 18 63 0 0 1 0 0 AADAC 13 broad.mit.edu 37 3 151531957 151531957 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:151531957A>G ENST00000232892.6 + 1 133 c.7A>G c.(7-9)Aga>Gga p.R3G RP11-454C18.2_ENST00000483843.2_RNA|AADAC_ENST00000488869.1_Missense_Mutation_p.R3G|RP11-454C18.2_ENST00000475855.1_RNA NM_001086.2 NP_001077.2 P22760 AAAD_HUMAN arylacetamide deacetylase 3 R -> M (in Ref. 6; AA sequence). positive regulation of triglyceride catabolic process endoplasmic reticulum membrane|integral to membrane|microsome carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2) 19 Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112) LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) CACCATGGGAAGAAAATCGCT 0.428000 43 106 0 0 1 0 0 EPHA7 2045 broad.mit.edu 37 6 93979297 93979297 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:93979297A>G ENST00000369303.4 - 7 1715 c.1531T>C c.(1531-1533)Tat>Cat p.Y511H NM_004440.3 NP_004431.1 Q15375 EPHA7_HUMAN EPH receptor A7 511 Fibronectin type-III 2. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1) 112 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) TGGAAAACATACACTGTTCCT 0.398000 7 134 0 0 1 0 0 CPXM2 119587 broad.mit.edu 37 10 125528100 125528100 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:125528100G>A ENST00000241305.3 - 9 1395 c.1241C>T c.(1240-1242)aCg>aTg p.T414M CPXM2_ENST00000368854.3_5'UTR NM_198148.2 NP_937791.2 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 414 cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3) 47 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) GTGAATCCGCGTCTCCTCCAC 0.627000 34 111 0 0 1 0 0 MYH13 8735 broad.mit.edu 37 17 10216005 10216005 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:10216005C>T ENST00000418404.3 - 30 4414 c.4251G>A c.(4249-4251)tcG>tcA p.S1417S MYH13_ENST00000570743.1_Silent_p.S1417S|MYH13_ENST00000252172.4_Silent_p.S1417S Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 1417 muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 TTTTCTCCAACGATGCGCACT 0.552000 5 24 0 0 1 0 0 CLIP2 7461 broad.mit.edu 37 7 73811420 73811420 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:73811420C>T ENST00000223398.6 + 14 3064 c.2737C>T c.(2737-2739)Cgg>Tgg p.R913W CLIP2_ENST00000361545.5_Missense_Mutation_p.R878W|CLIP2_ENST00000395060.1_Missense_Mutation_p.R913W NM_003388.4 NP_003379.3 Q9UDT6 CLIP2_HUMAN CAP-GLY domain containing linker protein 2 913 microtubule associated complex breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3) 30 GAACGAACTGCGGGTGTTGCT 0.617000 30 64 0 0 1 0 0 ATN1 1822 broad.mit.edu 37 12 7046509 7046509 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:7046509A>G ENST00000356654.4 + 5 2316 c.2079A>G c.(2077-2079)ggA>ggG p.G693G ATN1_ENST00000396684.2_Silent_p.G693G NM_001007026.1 NP_001007027.1 P54259 ATN1_HUMAN atrophin 1 693 cell death|central nervous system development cytoplasm|nucleus protein domain specific binding breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 CCACCGTGGGACCTGGGCCCC 0.736000 5 9 0 0 1 0 0 CDH6 1004 broad.mit.edu 37 5 31323233 31323233 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:31323233C>T ENST00000265071.2 + 12 2456 c.2191C>T c.(2191-2193)Cca>Tca p.P731S NM_004932.3 NP_004923.1 P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 731 adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 CACTGCCCCGCCATACGACTC 0.547000 15 49 0 0 1 0 0 EMR2 30817 broad.mit.edu 37 19 14875330 14875330 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:14875330C>T ENST00000315576.3 - 11 1450 c.999G>A c.(997-999)ctG>ctA p.L333L EMR2_ENST00000353876.1_Silent_p.L240L|EMR2_ENST00000392964.3_Silent_p.L72L|EMR2_ENST00000601345.1_Silent_p.L333L|EMR2_ENST00000392967.2_Silent_p.L333L|EMR2_ENST00000346057.1_Silent_p.L284L|EMR2_ENST00000392965.3_Silent_p.L333L|EMR2_ENST00000595839.1_Silent_p.L191L|EMR2_ENST00000353005.1_Silent_p.L191L|EMR2_ENST00000596991.2_Silent_p.L333L|EMR2_ENST00000594294.1_Silent_p.L284L|EMR2_ENST00000594076.1_Silent_p.L240L NM_013447.2 NP_038475.2 Q9UHX3 EMR2_HUMAN egf-like module containing, mucin-like, hormone receptor-like 2 333 cell adhesion|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 48 GGCCATCCAGCAGGTGACTGG 0.602000 13 60 0 0 1 0 0 GPR25 2848 broad.mit.edu 37 1 200842781 200842781 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:200842781C>T ENST00000304244.2 + 1 699 c.616C>T c.(616-618)Ctg>Ttg p.L206L NM_005298.2 NP_005289.2 O00155 GPR25_HUMAN G protein-coupled receptor 25 206 Poly-Leu. integral to plasma membrane large_intestine(1)|lung(2)|ovary(1)|skin(1) 5 CAGCTTGCTGCTGCTGCTGCT 0.726000 4 33 0 0 1 0 0 ACD 65057 broad.mit.edu 37 16 67691737 67691737 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:67691737C>T ENST00000219251.8 - 11 1806 c.1475G>A c.(1474-1476)cGt>cAt p.R492H ACD_ENST00000393919.4_Missense_Mutation_p.R495H NM_001082486.1|NM_001082487.1|NM_022914.2 NP_001075955.1|NP_001075956.1|NP_075065.2 Q96AP0 ACD_HUMAN adrenocortical dysplasia homolog (mouse) 495 intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly nuclear telomere cap complex|nucleoplasm DNA binding|DNA polymerase binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228) AGAACCATCACGATGCCTCTT 0.582000 24 68 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577566 7577566 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:7577566T>C ENST00000420246.2 - 7 847 c.715A>G c.(715-717)Aac>Gac p.N239D TP53_ENST00000359597.4_Missense_Mutation_p.N239D|TP53_ENST00000455263.2_Missense_Mutation_p.N239D|TP53_ENST00000445888.2_Missense_Mutation_p.N239D|TP53_ENST00000269305.4_Missense_Mutation_p.N239D|TP53_ENST00000413465.2_Missense_Mutation_p.N239D NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 239 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity). N -> D (in sporadic cancers; somatic mutation).|N -> H (in a sporadic cancer; somatic mutation).|N -> I (in a sporadic cancer; somatic mutation).|N -> K (in sporadic cancers; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in sporadic cancers; somatic mutation).|N -> Y (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.N239D(33)|p.N239fs*25(12)|p.0?(8)|p.N239Y(6)|p.N239fs*1(5)|p.?(5)|p.M237_N239delMCN(4)|p.N239_C242delNSSC(3)|p.N239fs*8(2)|p.N239_S240delNS(2)|p.N239fs*26(1)|p.N146D(1)|p.N146fs*1(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.N239fs*6(1)|p.N239fs*4(1)|p.C238_N239insX(1)|p.C238_M246delCNSSCMGGM(1)|p.M144_N146delMCN(1)|p.C238fs*21(1)|p.H233fs*6(1)|p.N239*(1)|p.H233_C242del10(1)|p.N239_C242del(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CAGGAACTGTTACACATGTAG 0.572000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 16 62 0 0 1 0 0 SGIP1 84251 broad.mit.edu 37 1 67205086 67205086 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:67205086C>T ENST00000371037.4 + 22 2177 c.2100C>T c.(2098-2100)agC>agT p.S700S SGIP1_ENST00000237247.6_Silent_p.S731S|SGIP1_ENST00000371035.3_Silent_p.S490S|SGIP1_ENST00000371036.3_Silent_p.S502S|SGIP1_ENST00000435165.2_Silent_p.S205S|SGIP1_ENST00000371039.1_Silent_p.S503S NM_032291.2 NP_115667.2 Q9BQI5 SGIP1_HUMAN SH3-domain GRB2-like (endophilin) interacting protein 1 700 positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess AP-2 adaptor complex microtubule binding|phospholipid binding|SH3 domain binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 71 AGCCTTCAAGCACTGACCTGC 0.502000 10 37 0 0 1 0 0 INPP5J 27124 broad.mit.edu 37 22 31522690 31522690 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr22:31522690C>T ENST00000331075.5 + 4 1526 c.1477C>T c.(1477-1479)Ccc>Tcc p.P493S INPP5J_ENST00000404390.3_Missense_Mutation_p.P125S|INPP5J_ENST00000405300.1_Missense_Mutation_p.P126S|INPP5J_ENST00000412277.2_Missense_Mutation_p.P426S|INPP5J_ENST00000400294.2_Missense_Mutation_p.P126S Q15735 PI5PA_HUMAN inositol polyphosphate-5-phosphatase J 493 Catalytic (Potential). cytoplasm|ruffle inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1) 12 TGCGCTAGGGCCCTTCAACTT 0.607000 57 216 0 0 1 0 0 TASP1 55617 broad.mit.edu 37 20 13550198 13550198 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:13550198A>G ENST00000337743.4 - 7 644 c.524T>C c.(523-525)gTa>gCa p.V175A TASP1_ENST00000480436.1_5'UTR|TASP1_ENST00000539805.1_Intron NM_017714.2 NP_060184.2 Q9H6P5 TASP1_HUMAN taspase, threonine aspartase, 1 175 asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation threonine-type endopeptidase activity NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2) 31 TCCATGATCTACTGCCCATCT 0.318000 14 38 0 0 1 0 0 SCGB2B2 284402 broad.mit.edu 37 19 35085174 35085174 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:35085174T>C ENST00000601241.1 - 3 2252 c.152A>G c.(151-153)aAc>aGc p.N51S SCGB2B2_ENST00000595326.1_Intron|SCGB2B2_ENST00000379204.2_Missense_Mutation_p.N51S Q4G0G5 SCGBL_HUMAN secretoglobin, family 2B, member 2 51 extracellular region binding GGGACTGGGGTTGTAACGAGC 0.493000 37 111 0 0 1 0 0 ITSN2 50618 broad.mit.edu 37 2 24428137 24428137 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:24428137G>A ENST00000355123.4 - 38 5151 c.4708C>T c.(4708-4710)Cgc>Tgc p.R1570C ITSN2_ENST00000361999.3_Missense_Mutation_p.R1543C NM_006277.2 NP_006268.2 Q9NZM3 ITSN2_HUMAN intersectin 2 1570 C2. endocytosis|regulation of Rho protein signal transduction cytoplasm calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1) 61 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ACCATCAGGCGCCCAATGCCT 0.463000 30 70 0 0 1 0 0 VPS13D 55187 broad.mit.edu 37 1 12460258 12460258 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:12460258T>C ENST00000358136.3 + 61 11785 c.11655T>C c.(11653-11655)ggT>ggC p.G3885G VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000356315.4_Silent_p.G3860G NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 3884 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) AGCTCATTGGTACCACGCAGC 0.512000 25 68 0 0 1 0 0 HTR3A 3359 broad.mit.edu 37 11 113856847 113856847 + Missense_Mutation SNP C C T rs139246177 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:113856847C>T ENST00000504030.2 + 6 1100 c.655C>T c.(655-657)Cgg>Tgg p.R219W HTR3A_ENST00000355556.2_Missense_Mutation_p.R225W|HTR3A_ENST00000506841.2_Missense_Mutation_p.R219W|HTR3A_ENST00000375498.2_Missense_Mutation_p.R225W|HTR3A_ENST00000535865.1_Intron|HTR3A_ENST00000299961.5_Missense_Mutation_p.R204W P46098 5HT3A_HUMAN 5-hydroxytryptamine (serotonin) receptor 3A, ionotropic 219 digestion|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity p.R219W(1) central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 36 all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191) Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199) GCCCTACTTTCGGGAGTTCAG 0.478000 67 222 0 0 1 0 0 CHD9 80205 broad.mit.edu 37 16 53191364 53191364 + Nonsense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:53191364C>T ENST00000566029.1 + 2 1572 c.1363C>T c.(1363-1365)Cag>Tag p.Q455* CHD9_ENST00000564845.1_Nonsense_Mutation_p.Q455*|CHD9_ENST00000447540.1_Nonsense_Mutation_p.Q455*|CHD9_ENST00000398510.3_Nonsense_Mutation_p.Q455* Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 455 cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 78 all_cancers(37;0.0212) GGCTCAGACTCAGTTGCAAAG 0.418000 7 61 0 0 1 0 0 ECE2 9718 broad.mit.edu 37 3 183967525 183967525 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:183967525G>A ENST00000402825.3 + 1 43 c.43G>A c.(43-45)Gag>Aag p.E15K ECE2_ENST00000324557.4_Missense_Mutation_p.E15K|EIF2B5_ENST00000444495.1_Intron NM_014693.3 NP_055508.3 O60344 ECE2_HUMAN endothelin converting enzyme 2 15 Methyltransferase-like region. brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing cytoplasmic vesicle membrane|Golgi membrane|integral to membrane metal ion binding|metalloendopeptidase activity|methyltransferase activity breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4) 49 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GGAGTTACCGGAGCGGAACTG 0.652000 OREG0015944 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 43 0 0 1 0 0 TUBB2A 7280 broad.mit.edu 37 6 3154891 3154891 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:3154891G>A ENST00000333628.3 - 4 606 c.544C>T c.(544-546)Ccc>Tcc p.P182S TUBB2A_ENST00000489942.1_5'UTR NM_001069.2 NP_001060.1 Q13885 TBB2A_HUMAN tubulin, beta 2A class IIa 182 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity endometrium(2)|large_intestine(4)|lung(2)|skin(1) 9 Ovarian(93;0.0386) all_hematologic(90;0.0895) GCGTTGTAGGGCTCCACCACC 0.557000 21 78 0 0 1 0 0 NRCAM 4897 broad.mit.edu 37 7 107824692 107824692 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:107824692G>A ENST00000379028.3 - 22 2767 c.2297C>T c.(2296-2298)aCg>aTg p.T766M NRCAM_ENST00000379024.4_Missense_Mutation_p.T747M|NRCAM_ENST00000425651.2_Missense_Mutation_p.T766M|NRCAM_ENST00000379022.4_Missense_Mutation_p.T766M|NRCAM_ENST00000351718.4_Missense_Mutation_p.T750M|NRCAM_ENST00000413765.2_Missense_Mutation_p.T747M Q92823 NRCAM_HUMAN neuronal cell adhesion molecule 766 Fibronectin type-III 2. angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly external side of plasma membrane|integral to plasma membrane ankyrin binding breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 65 CACCTTCCACGTAATCACCAA 0.383000 18 55 0 0 1 0 0 ZNF236 7776 broad.mit.edu 37 18 74620313 74620313 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr18:74620313G>A ENST00000253159.8 + 14 2527 c.2329G>A c.(2329-2331)Gca>Aca p.A777T ZNF236_ENST00000320610.9_Missense_Mutation_p.A779T NM_007345.3 NP_031371.3 Q9UL36 ZN236_HUMAN zinc finger protein 236 777 cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 94 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) GCATCAGCAGGCAGCCTCGAT 0.517000 38 144 0 0 1 0 0 XPC 7508 broad.mit.edu 37 3 14199968 14199968 + Missense_Mutation SNP G G A rs55819243 by1000genomes TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:14199968G>A ENST00000285021.7 - 9 1629 c.1415C>T c.(1414-1416)gCt>gTt p.A472V XPC_ENST00000449060.2_Missense_Mutation_p.A435V NM_001145769.1|NM_004628.4 NP_001139241.1|NP_004619.3 Q01831 XPC_HUMAN xeroderma pigmentosum, complementation group C 472 Arg/Lys-rich (basic). nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal cytoplasm|nucleoplasm|XPC complex bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 CCTCTGAGGAGCGGGGGCTTT 0.592000 """Mis, N, F, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 11 43 0 0 1 0 0 TAB1 10454 broad.mit.edu 37 22 39822777 39822777 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr22:39822777G>A ENST00000216160.6 + 9 1053 c.991G>A c.(991-993)Gtg>Atg p.V331M TAB1_ENST00000331454.3_Missense_Mutation_p.V331M NM_006116.2 NP_006107.1 Q15750 TAB1_HUMAN TGF-beta activated kinase 1/MAP3K7 binding protein 1 331 PP2C-like. activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|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|endosome membrane catalytic activity|protein binding breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1) 14 CCAGGCCGTCGTGGACCGGGT 0.627000 30 89 0 0 1 0 0 CNOT2 4848 broad.mit.edu 37 12 70724105 70724105 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:70724105A>G ENST00000229195.3 + 6 1004 c.425A>G c.(424-426)cAc>cGc p.H142R CNOT2_ENST00000418359.3_Missense_Mutation_p.H142R|CNOT2_ENST00000548230.1_3'UTR NM_014515.5 NP_055330.1 Q9NZN8 CNOT2_HUMAN CCR4-NOT transcription complex, subunit 2 142 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter cytosol|nucleus protein binding|RNA polymerase II transcription cofactor activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1) 20 Renal(347;0.236) GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118) ATGATGAACCACTCCCAGGTT 0.408000 29 135 0 0 1 0 0 SEC14L1 6397 broad.mit.edu 37 17 75205426 75205426 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:75205426C>T ENST00000413679.2 + 14 1782 c.1479C>T c.(1477-1479)tgC>tgT p.C493C SEC14L1_ENST00000436233.4_Silent_p.C493C|SEC14L1_ENST00000392476.2_Silent_p.C493C|SEC14L1_ENST00000591437.1_Silent_p.C459C|SEC14L1_ENST00000585618.1_Silent_p.C493C|SEC14L1_ENST00000431431.2_Silent_p.C459C|SEC14L1_ENST00000430767.4_Silent_p.C493C|SEC14L1_ENST00000443798.4_Silent_p.C493C NM_001143998.1|NM_001143999.1|NM_003003.3 NP_001137470.1|NP_001137471.1|NP_002994.3 Q92503 S14L1_HUMAN SEC14-like 1 (S. cerevisiae) 493 CRAL-TRIO. transport Golgi apparatus|integral to membrane binding NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2) 31 TCTTCCAGTGCGAAGTGCCAG 0.547000 16 43 0 0 1 0 0 TMEM132E 124842 broad.mit.edu 37 17 32964827 32964827 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:32964827A>G ENST00000321639.5 + 10 2859 c.2531A>G c.(2530-2532)cAc>cGc p.H844R NM_207313.1 NP_997196.1 Q6IEE7 T132E_HUMAN transmembrane protein 132E 844 integral to membrane breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 57 BRCA - Breast invasive adenocarcinoma(366;0.231) CACTCTCACCACTGGGTGTTC 0.657000 33 111 0 0 1 0 0 EHBP1L1 254102 broad.mit.edu 37 11 65349873 65349873 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:65349873T>C ENST00000309295.4 + 9 1995 c.1730T>C c.(1729-1731)gTa>gCa p.V577A NM_001099409.1 NP_001092879.1 Q8N3D4 EH1L1_HUMAN EH domain binding protein 1-like 1 577 Glu-rich. central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 ACTGAGGTGGTAGGGTTGGAG 0.567000 21 43 0 0 1 0 0 CACNA1B 774 broad.mit.edu 37 9 140938227 140938227 + Splice_Site SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:140938227T>C ENST00000277549.5 + 21 3433 c.862_splice c.e21-1 p.S288_splice CACNA1B_ENST00000371357.1_Splice_Site_p.S1097_splice|CACNA1B_ENST00000277551.2_Splice_Site_p.S1096_splice|CACNA1B_ENST00000371363.1_Splice_Site_p.S1096_splice|CACNA1B_ENST00000371372.1_Splice_Site_p.S1096_splice|CACNA1B_ENST00000545473.1_Splice_Site_p.G122_splice|CACNA1B_ENST00000371355.4_Splice_Site_p.S1097_splice Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 1096 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) TCCTTGTAGGTGGTAACGTGG 0.627000 8 103 0 0 1 0 0 FOXN3 1112 broad.mit.edu 37 14 89878383 89878383 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:89878383T>C ENST00000345097.4 - 2 554 c.438A>G c.(436-438)gaA>gaG p.E146E FOXN3_ENST00000261302.5_Silent_p.E146E|FOXN3_ENST00000557258.1_Silent_p.E146E|FOXN3_ENST00000555353.1_Silent_p.E146E NM_001085471.1 NP_001078940.1 O00409 FOXN3_HUMAN forkhead box N3 146 DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 ACGGAAAATGTTCCAAGATCC 0.438000 32 102 0 0 1 0 0 TOX 9760 broad.mit.edu 37 8 59851885 59851885 + Silent SNP T T G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:59851885T>G ENST00000361421.1 - 3 607 c.387A>C c.(385-387)acA>acC p.T129T NM_014729.2 NP_055544.1 O94900 TOX_HUMAN thymocyte selection-associated high mobility group box 129 nucleus DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1) 33 all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607) TAGAAAGCAGTGTTCCATCCT 0.488000 15 136 0 0 1 0 0 TG 7038 broad.mit.edu 37 8 133895231 133895231 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:133895231G>A ENST00000220616.4 + 8 1102 c.1062G>A c.(1060-1062)gaG>gaA p.E354E TG_ENST00000377869.1_Silent_p.E354E NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 354 Thyroglobulin type-1 4. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) AGCAAGGGGAGCCGCCATCTT 0.597000 11 69 0 0 1 0 0 DPF2 5977 broad.mit.edu 37 11 65108004 65108004 + Missense_Mutation SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:65108004C>A ENST00000528416.1 + 2 314 c.181C>A c.(181-183)Cac>Aac p.H61N DPF2_ENST00000415073.2_Missense_Mutation_p.H61N|DPF2_ENST00000532264.1_Intron|DPF2_ENST00000252268.4_Missense_Mutation_p.H61N NM_006268.4 NP_006259.1 Q92785 REQU_HUMAN D4, zinc and double PHD fingers family 2 61 apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleus nucleic acid binding|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1) 23 GGAAAAGCGACACCGGGGTCC 0.557000 24 125 1.64293e-13 1.71518e-13 1 1 0 OPLAH 26873 broad.mit.edu 37 8 145106322 145106322 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:145106322C>T ENST00000426825.1 - 28 3853 c.3772G>A c.(3772-3774)Gac>Aac p.D1258N OPLAH_ENST00000534424.1_5'UTR|CTD-3065J16.6_ENST00000528912.1_RNA NM_017570.3 NP_060040.1 O14841 OPLA_HUMAN 5-oxoprolinase (ATP-hydrolysing) 1258 5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 20 all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) L-Glutamic Acid(DB00142) GGGGCGGGGTCCTCCGGGTCC 0.736000 12 59 0 0 1 0 0 IZUMO1 284359 broad.mit.edu 37 19 49244666 49244666 + Missense_Mutation SNP T T A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:49244666T>A ENST00000332955.2 - 9 1371 c.824A>T c.(823-825)gAg>gTg p.E275V NM_182575.2 NP_872381.2 Q8IYV9 IZUM1_HUMAN izumo sperm-egg fusion 1 275 fusion of sperm to egg plasma membrane integral to membrane endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 17 all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022) TATGGACGACTCCGTGGTCGC 0.557000 20 75 0 0 1 0 0 CYP1A2 1544 broad.mit.edu 37 15 75047248 75047248 + Missense_Mutation SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:75047248G>T ENST00000343932.4 + 7 1433 c.1370G>T c.(1369-1371)cGg>cTg p.R457L NM_000761.3 NP_000752.2 P05177 CP1A2_HUMAN cytochrome P450, family 1, subfamily A, polypeptide 2 457 R -> W (in dbSNP:rs34151816). alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 33 Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315) GGCAAGCGCCGGTGTATCGGG 0.597000 41 104 1.67305e-13 1.74621e-13 1 1 0 STAB2 55576 broad.mit.edu 37 12 104064492 104064492 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:104064492G>A ENST00000388887.2 + 22 2482 c.2278G>A c.(2278-2280)Ggc>Agc p.G760S NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 760 EGF-like 6. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 TAGCCTCGGCGGCAACGGGAC 0.507000 11 24 0 0 1 0 0 CCDC88B 283234 broad.mit.edu 37 11 64109474 64109474 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:64109474T>C ENST00000356786.5 + 8 728 c.684T>C c.(682-684)gcT>gcC p.A228A CCDC88B_ENST00000463837.1_3'UTR NM_032251.5 NP_115627.6 A6NC98 CC88B_HUMAN coiled-coil domain containing 88B 228 microtubule cytoskeleton organization cytoplasm microtubule binding endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 AGCGGCTGGCTGAACTGCTGC 0.627000 14 51 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140346540 140346540 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:140346540C>T ENST00000289269.5 + 1 721 c.189C>T c.(187-189)cgC>cgT p.R63R PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron NM_018899.5|NM_031883.2 NP_061722.1|NP_114089.1 Q9Y5I4 PCDC2_HUMAN 63 Cadherin 1. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACGTGGCTCGCGCGCTGGGGC 0.692000 12 30 0 0 1 0 0 POLD3 10714 broad.mit.edu 37 11 74324006 74324006 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:74324006T>C ENST00000263681.2 + 5 472 c.343T>C c.(343-345)Ttc>Ctc p.F115L POLD3_ENST00000527458.1_Missense_Mutation_p.F76L|POLD3_ENST00000532497.1_Missense_Mutation_p.F9L NM_006591.2 NP_006582.1 Q15054 DPOD3_HUMAN polymerase (DNA-directed), delta 3, accessory subunit 115 base-excision repair|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|mismatch repair|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair delta DNA polymerase complex|nucleoplasm DNA-directed DNA polymerase activity|protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1) 18 Breast(11;3.21e-06) TGGGCCTCTGTTCAATACTGA 0.443000 45 127 0 0 1 0 0 ADAM32 203102 broad.mit.edu 37 8 39080605 39080605 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:39080605G>A ENST00000379907.4 + 14 1500 c.1373G>A c.(1372-1374)tGt>tAt p.C458Y ADAM32_ENST00000437682.2_Missense_Mutation_p.C359Y|ADAM32_ENST00000519315.1_Missense_Mutation_p.C352Y NM_145004.5 NP_659441.3 Q8TC27 ADA32_HUMAN ADAM metallopeptidase domain 32 458 Disintegrin. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2) 31 all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503) LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146) CATCCTGAATGTGACATCGCT 0.328000 8 13 0 0 1 0 0 ARFGEF1 10565 broad.mit.edu 37 8 68113816 68113816 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:68113816T>C ENST00000262215.3 - 37 5542 c.5153A>G c.(5152-5154)aAc>aGc p.N1718S ARFGEF1_ENST00000517955.1_5'UTR|ARFGEF1_ENST00000520381.1_Missense_Mutation_p.N1172S|ARFGEF1_ENST00000518230.1_Missense_Mutation_p.N556S NM_006421.4 NP_006412.2 Q9Y6D6 BIG1_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) 1718 exocytosis|regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity|myosin binding breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206) CTTCAGAAGGTTGGGCTTGGA 0.532000 31 137 0 0 1 0 0 DYRK2 8445 broad.mit.edu 37 12 68051507 68051507 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:68051507C>T ENST00000344096.3 + 3 1233 c.820C>T c.(820-822)Cgg>Tgg p.R274W DYRK2_ENST00000393555.3_Missense_Mutation_p.R201W NM_006482.2 NP_006473.2 Q92630 DYRK2_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2 274 Protein kinase. apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|positive regulation of glycogen biosynthetic process|smoothened signaling pathway cytoplasm|nucleus ATP binding|magnesium ion binding|manganese ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 30 Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196) GBM - Glioblastoma multiforme(7;0.000573) GGAACACCTGCGGAAGCAGGA 0.522000 26 152 0 0 1 0 0 TRIO 7204 broad.mit.edu 37 5 14488150 14488150 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:14488150G>A ENST00000344204.4 + 48 7437 c.7413G>A c.(7411-7413)gaG>gaA p.E2471E TRIO_ENST00000537187.1_Intron NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor 2471 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) TCGGCAAGGAGCCCTTCCCCC 0.746000 10 18 0 0 1 0 0 MTERFD3 80298 broad.mit.edu 37 12 107372404 107372404 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:107372404A>G ENST00000552029.1 - 2 2157 c.89T>C c.(88-90)tTa>tCa p.L30S C12orf23_ENST00000551237.1_3'UTR|MTERFD3_ENST00000240050.4_Missense_Mutation_p.L30S|MTERFD3_ENST00000392830.2_Missense_Mutation_p.L30S Q49AM1 MTER3_HUMAN MTERF domain containing 3 30 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial nucleoid transcription regulatory region DNA binding breast(1)|kidney(1)|large_intestine(2)|lung(3) 7 GAAGCATGCTAAGAAAGGTCT 0.413000 23 77 0 0 1 0 0 NCK2 8440 broad.mit.edu 37 2 106509493 106509493 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:106509493T>C ENST00000233154.4 + 5 1446 c.1004T>C c.(1003-1005)gTg>gCg p.V335A NCK2_ENST00000522586.1_3'UTR|NCK2_ENST00000393349.2_Missense_Mutation_p.V335A|NCK2_ENST00000451463.2_3'UTR NM_003581.4 NP_003572.2 O43639 NCK2_HUMAN NCK adaptor protein 2 335 SH2. axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation cytosol|endoplasmic reticulum cytoskeletal adaptor activity|receptor signaling complex scaffold activity endometrium(1)|lung(3)|ovary(1) 5 CACTTCAAGGTGCAGCTCGTG 0.572000 9 66 0 0 1 0 0 DBH 1621 broad.mit.edu 37 9 136501547 136501547 + Silent SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:136501547A>T ENST00000393056.2 + 1 66 c.54A>T c.(52-54)gcA>gcT p.A18A NM_000787.3 NP_000778.3 P09172 DOPO_HUMAN dopamine beta-hydroxylase (dopamine beta-monooxygenase) 18 hormone biosynthetic process chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane dopamine beta-monooxygenase activity|L-ascorbic acid binding central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 36 OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05) Dopamine(DB00988)|Vitamin C(DB00126) TGCGGGAGGCAGCCTTCATGT 0.672000 18 68 0 0 1 0 0 MLH3 27030 broad.mit.edu 37 14 75515253 75515253 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:75515253T>C ENST00000355774.2 - 2 1321 c.1106A>G c.(1105-1107)aAt>aGt p.N369S MLH3_ENST00000556740.1_Missense_Mutation_p.N369S|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000238662.7_Missense_Mutation_p.N369S|MLH3_ENST00000556257.1_Missense_Mutation_p.N369S NM_001040108.1 NP_001035197.1 Q9UHC1 MLH3_HUMAN mutL homolog 3 369 mismatch repair|reciprocal meiotic recombination chiasma|MutLbeta complex|synaptonemal complex ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 44 BRCA - Breast invasive adenocarcinoma(234;0.00688) ACTAAAACCATTATCTTCACT 0.333000 Mismatch excision repair (MMR) 12 46 0 0 1 0 0 TOR1B 27348 broad.mit.edu 37 9 132566419 132566419 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:132566419G>A ENST00000259339.2 + 2 327 c.267G>A c.(265-267)gcG>gcA p.A89A TOR1B_ENST00000486372.1_3'UTR NM_014506.1 NP_055321.1 O14657 TOR1B_HUMAN torsin family 1, member B (torsin B) 89 chaperone mediated protein folding requiring cofactor|response to unfolded protein endoplasmic reticulum lumen ATP binding|nucleoside-triphosphatase activity|unfolded protein binding endometrium(3)|kidney(1)|large_intestine(1)|lung(7) 12 Ovarian(14;0.0586) TTTTCAAGGCGCTGACTGGCT 0.488000 26 49 0 0 1 0 0 CFH 3075 broad.mit.edu 37 1 196694375 196694375 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:196694375T>C ENST00000367429.4 + 12 2061 c.1821T>C c.(1819-1821)aaT>aaC p.N607N NM_000186.3 NP_000177.2 P08603 CFAH_HUMAN complement factor H 607 Sushi 10. complement activation, alternative pathway extracellular space NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 TTGGACCTAATTCCGTTCAGT 0.378000 21 89 0 0 1 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77401513 77401513 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:77401513T>C ENST00000282849.5 - 4 1021 c.603A>G c.(601-603)gtA>gtG p.V201V ADAMTS18_ENST00000567121.1_5'UTR NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 201 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 TTTTGTACAGTACGTGAGGAT 0.527000 22 83 0 0 1 0 0 CHST6 4166 broad.mit.edu 37 16 75512863 75512863 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:75512863G>A ENST00000332272.4 - 3 1043 c.864C>T c.(862-864)taC>taT p.Y288Y RP11-77K12.4_ENST00000530512.3_RNA|CHST6_ENST00000390664.2_Silent_p.Y288Y NM_021615.4 NP_067628.1 Q9GZX3 CHST6_HUMAN carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 288 keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process Golgi membrane|integral to membrane N-acetylglucosamine 6-O-sulfotransferase activity central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 CAGTGAAGGCGTAGAGCGCAC 0.657000 20 78 0 0 1 0 0 ABHD16B 140701 broad.mit.edu 37 20 62493306 62493306 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:62493306A>G ENST00000369916.3 + 1 741 c.413A>G c.(412-414)tAc>tGc p.Y138C NM_080622.3 NP_542189.1 Q9H3Z7 ABHGB_HUMAN abhydrolase domain containing 16B 138 hydrolase activity endometrium(2)|kidney(1)|lung(3) 6 GTGGAGCGCTACCACGGCCGG 0.716000 15 57 0 0 1 0 0 TBK1 29110 broad.mit.edu 37 12 64891804 64891804 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:64891804A>G ENST00000331710.5 + 20 2462 c.2123A>G c.(2122-2124)aAc>aGc p.N708S NM_013254.3 NP_037386.1 Q9UHD2 TBK1_HUMAN TANK-binding kinase 1 708 I-kappaB kinase/NF-kappaB cascade|innate immune response|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane ATP binding|phosphoprotein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1) 20 GBM - Glioblastoma multiforme(28;0.0386) GCTGAAAATAACCACATTTTA 0.313000 8 52 0 0 1 0 0 HECTD1 25831 broad.mit.edu 37 14 31644179 31644179 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:31644179C>T ENST00000399332.1 - 4 1029 c.541G>A c.(541-543)Gat>Aat p.D181N HECTD1_ENST00000553700.1_Missense_Mutation_p.D181N NM_015382.2 NP_056197.2 Q9ULT8 HECD1_HUMAN HECT domain containing E3 ubiquitin protein ligase 1 181 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 70 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) AAAGAAGAATCTTGAGGCTCC 0.378000 19 72 0 0 1 0 0 ZNFX1 57169 broad.mit.edu 37 20 47881313 47881313 + Silent SNP C C G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:47881313C>G ENST00000396105.1 - 5 2337 c.2091G>C c.(2089-2091)ctG>ctC p.L697L ZNFX1_ENST00000371754.4_Silent_p.L697L|ZNFX1_ENST00000371752.1_Silent_p.L697L NM_021035.2 NP_066363.1 Q9P2E3 ZNFX1_HUMAN zinc finger, NFX1-type containing 1 697 metal ion binding cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 60 BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) GCTTGTTCCTCAGCTCCCTTA 0.527000 48 156 0 0 1 0 0 YDJC 150223 broad.mit.edu 37 22 21982747 21982747 + Missense_Mutation SNP T T G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr22:21982747T>G ENST00000292778.6 - 5 981 c.932A>C c.(931-933)gAg>gCg p.E311A YDJC_ENST00000398873.3_3'UTR NM_001017964.1 NP_001017964.1 A8MPS7 YDJC_HUMAN YdjC homolog (bacterial) 311 carbohydrate metabolic process hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds Colorectal(54;0.105) CAGAGTGGGCTCACAGGGGAC 0.622000 8 168 0 0 1 0 0 HNF1B 6928 broad.mit.edu 37 17 36070601 36070601 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:36070601G>A ENST00000225893.4 - 5 1477 c.1116C>T c.(1114-1116)agC>agT p.S372S HNF1B_ENST00000427275.2_Silent_p.S346S|HNF1B_ENST00000560016.1_Silent_p.S372S|HNF1B_ENST00000561193.1_Silent_p.S346S NM_000458.2|NM_001165923.1 NP_000449.1|NP_001159395.1 P35680 HNF1B_HUMAN HNF1 homeobox B 372 endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size nucleus DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2) 28 Breast(25;0.00765)|Ovarian(249;0.15) STAD - Stomach adenocarcinoma(1;0.0142) TCACCATGGCGCTGTTGCCAT 0.532000 28 70 0 0 1 0 0 DICER1 23405 broad.mit.edu 37 14 95557552 95557552 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:95557552G>A ENST00000526495.1 - 27 5806 c.5515C>T c.(5515-5517)Cgg>Tgg p.R1839W DICER1_ENST00000556045.1_Missense_Mutation_p.R737W|DICER1_ENST00000343455.3_Missense_Mutation_p.R1839W|DICER1_ENST00000527416.2_5'UTR|DICER1_ENST00000541352.1_Intron|DICER1_ENST00000393063.1_Missense_Mutation_p.R1839W|DICER1_ENST00000527414.1_Missense_Mutation_p.R1839W Q9UPY3 DICER_HUMAN dicer 1, ribonuclease type III 1839 negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference cytosol|RNA-induced silencing complex ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3) 75 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) ATTAGTGGCCGCATCATGGGA 0.393000 """Mis F, N""" """sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma""" pleuropulmonary blastoma Familial Multinodular Goiter ;DICER 1 syndrome 16 329 0 0 1 0 0 C14orf93 60686 broad.mit.edu 37 14 23456766 23456766 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:23456766T>C ENST00000299088.6 - 7 1704 c.1275A>G c.(1273-1275)gaA>gaG p.E425E RP11-298I3.4_ENST00000556503.1_RNA|RP11-298I3.4_ENST00000557615.1_RNA|C14orf93_ENST00000406429.2_Silent_p.E425E|C14orf93_ENST00000397377.1_Silent_p.E245E|C14orf93_ENST00000397379.3_Silent_p.E425E|C14orf93_ENST00000397382.4_Silent_p.E425E|C14orf93_ENST00000341470.4_Silent_p.E425E|RP11-298I3.4_ENST00000555294.1_RNA NM_001130708.1|NM_021944.2 NP_001124180.1|NP_068763.2 Q9H972 CN093_HUMAN chromosome 14 open reading frame 93 425 extracellular region kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1) 17 all_cancers(95;3.3e-05) GBM - Glioblastoma multiforme(265;0.0127) CTGACATCAGTTCCTCTGTCA 0.557000 5 70 0 0 1 0 0 TSKS 60385 broad.mit.edu 37 19 50247606 50247606 + Missense_Mutation SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:50247606C>A ENST00000246801.3 - 8 1325 c.1243G>T c.(1243-1245)Ggc>Tgc p.G415C TSKS_ENST00000358830.3_Missense_Mutation_p.G215C NM_021733.1 NP_068379.1 Q9UJT2 TSKS_HUMAN testis-specific serine kinase substrate 415 protein binding breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3) 38 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145) TTCAGTGGGCCCAGCCCCTCC 0.592000 21 73 8.10497e-08 8.33977e-08 1 1 0 KIF21A 55605 broad.mit.edu 37 12 39745734 39745734 + Missense_Mutation SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:39745734G>T ENST00000395670.3 - 11 1937 c.1518C>A c.(1516-1518)aaC>aaA p.N506K KIF21A_ENST00000361418.5_Missense_Mutation_p.N506K|KIF21A_ENST00000541463.2_Missense_Mutation_p.N506K|KIF21A_ENST00000544797.2_Missense_Mutation_p.N506K|KIF21A_ENST00000361961.3_Missense_Mutation_p.N506K Q7Z4S6 KI21A_HUMAN kinesin family member 21A 506 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 86 Lung NSC(34;0.179)|all_lung(34;0.213) CTCTTGTCAAGTTTTTTCGAA 0.353000 30 156 4.4194e-11 4.5893e-11 1 1 0 FNIP1 96459 broad.mit.edu 37 5 131007907 131007907 + Missense_Mutation SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:131007907A>T ENST00000307968.7 - 13 2145 c.2146T>A c.(2146-2148)Tgt>Agt p.C716S FNIP1_ENST00000514667.1_Intron|FNIP1_ENST00000307954.8_Missense_Mutation_p.C699S|FNIP1_ENST00000510461.1_Missense_Mutation_p.C744S NM_001008738.2 NP_001008738.2 folliculin interacting protein 1 NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0665) GCAGCCTCACAAGAAAATGAA 0.453000 43 136 0 0 1 0 0 AKAP10 11216 broad.mit.edu 37 17 19861746 19861746 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:19861746T>C ENST00000225737.6 - 4 615 c.458A>G c.(457-459)aAa>aGa p.K153R AKAP10_ENST00000572155.1_5'UTR|AKAP10_ENST00000395536.3_Missense_Mutation_p.K153R NM_007202.3 NP_009133.2 O43572 AKA10_HUMAN A kinase (PRKA) anchor protein 10 153 RGS 1. blood coagulation|protein localization cytosol|mitochondrion|plasma membrane signal transducer activity NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2) 21 all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165) TAACCAAAATTTCACCAAATG 0.443000 27 81 0 0 1 0 0 CCR2 729230 broad.mit.edu 37 3 46399634 46399634 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:46399634A>G ENST00000292301.4 + 2 1101 c.616A>G c.(616-618)Agg>Ggg p.R206G CCR2_ENST00000445132.2_Missense_Mutation_p.R206G|CCR2_ENST00000400888.2_Missense_Mutation_p.R206G|CCR2_ENST00000465202.1_3'UTR NM_001123041.2 NP_001116513.2 P41597 CCR2_HUMAN chemokine (C-C motif) receptor 2 206 astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7) 14 BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206) CACAATAATGAGGAACATTTT 0.458000 88 264 0 0 1 0 0 NIN 51199 broad.mit.edu 37 14 51259517 51259517 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:51259517G>A ENST00000245441.5 - 5 538 c.348C>T c.(346-348)tcC>tcT p.S116S NIN_ENST00000486200.1_5'UTR|NIN_ENST00000382043.4_Silent_p.S116S|NIN_ENST00000530997.2_Silent_p.S116S|NIN_ENST00000453196.1_Silent_p.S116S|NIN_ENST00000324330.9_Silent_p.S116S|NIN_ENST00000389868.3_Silent_p.S116S|NIN_ENST00000382041.3_Silent_p.S116S NM_020921.3 NP_065972.3 Q8N4C6 NIN_HUMAN ninein (GSK3B interacting protein) 116 centrosome localization centrosome|microtubule calcium ion binding|GTP binding|protein binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 71 all_epithelial(31;0.00244)|Breast(41;0.127) ACTCCTCCACGGACTCTTGGA 0.547000 T PDGFRB MPD 29 77 0 0 1 0 0 SIMC1 375484 broad.mit.edu 37 5 175717628 175717628 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:175717628A>G ENST00000443967.1 + 4 1451 c.1044A>G c.(1042-1044)ccA>ccG p.P348P SIMC1_ENST00000430704.2_Intron|SIMC1_ENST00000341199.6_Intron|SIMC1_ENST00000429602.2_Silent_p.P367P SUMO-interacting motifs containing 1 CTCACTTACCAGGAGACAGGC 0.527000 32 487 0 0 1 0 0 NDC1 55706 broad.mit.edu 37 1 54298225 54298225 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:54298225T>C ENST00000371429.3 - 3 816 c.218A>G c.(217-219)tAc>tGc p.Y73C NDC1_ENST00000540001.1_Missense_Mutation_p.Y73C|NDC1_ENST00000537333.1_5'UTR|NDC1_ENST00000480952.1_5'UTR|NDC1_ENST00000234725.8_5'UTR NM_001168551.1|NM_018087.4 NP_001162023.1|NP_060557.3 NDC1 transmembrane nucleoporin CAGCAGGAAGTAAAAGATTAC 0.338000 12 34 0 0 1 0 0 CCDC8 83987 broad.mit.edu 37 19 46914994 46914994 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:46914994G>A ENST00000307522.3 - 1 1847 c.1074C>T c.(1072-1074)aaC>aaT p.N358N NM_032040.4 NP_114429.2 Q9H0W5 CCDC8_HUMAN coiled-coil domain containing 8 358 plasma membrane breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421) CTTCCCTCTGGTTATCTGCAG 0.587000 37 281 0 0 1 0 0 PASK 23178 broad.mit.edu 37 2 242046021 242046021 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:242046021C>T ENST00000405260.1 - 18 4630 c.3932G>A c.(3931-3933)gGc>gAc p.G1311D PASK_ENST00000234040.4_Missense_Mutation_p.G1311D|PASK_ENST00000358649.4_Missense_Mutation_p.G1318D|PASK_ENST00000544142.1_Missense_Mutation_p.G1125D|PASK_ENST00000539818.1_Missense_Mutation_p.G1095D NM_001252120.1 NP_001239049.1 Q96RG2 PASK_HUMAN PAS domain containing serine/threonine kinase 1311 regulation of transcription, DNA-dependent Golgi apparatus ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2) 53 all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968) ATGCAAACAGCCTTGGCCATT 0.572000 11 292 0 0 1 0 0 CHAC1 79094 broad.mit.edu 37 15 41247586 41247586 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:41247586G>A ENST00000446533.3 + 3 718 c.409G>A c.(409-411)Gtg>Atg p.V137M CHAC1_ENST00000487220.1_5'UTR|CHAC1_ENST00000444189.2_Missense_Mutation_p.V137M NM_001142776.1|NM_024111.3 NP_001136248.1|NP_077016.2 Q9BUX1 CHAC1_HUMAN ChaC, cation transport regulator homolog 1 (E. coli) 137 apoptosis in response to endoplasmic reticulum stress|response to unfolded protein cytosol protein binding endometrium(1)|large_intestine(1)|skin(1) 3 all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;2.66e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.163) CACTTGGGGCGTGGCATACCA 0.582000 31 81 0 0 1 0 0 GPR128 84873 broad.mit.edu 37 3 100362380 100362380 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:100362380T>C ENST00000273352.3 + 8 1117 c.849T>C c.(847-849)agT>agC p.S283S GPR128_ENST00000475887.1_Intron NM_032787.2 NP_116176.2 Q96K78 GP128_HUMAN G protein-coupled receptor 128 283 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 56 GAGCTAGCAGTTCTCTAGTTT 0.373000 16 46 0 0 1 0 0 FBXO30 84085 broad.mit.edu 37 6 146126460 146126460 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:146126460C>T ENST00000237281.4 - 2 1248 c.1082G>A c.(1081-1083)gGt>gAt p.G361D NM_032145.4 NP_115521.3 Q8TB52 FBX30_HUMAN F-box protein 30 361 ubiquitin-protein ligase activity|zinc ion binding NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 Ovarian(120;0.0776) OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149) TTCACCTTCACCTTCATCATC 0.423000 21 105 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56765257 56765257 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:56765257A>G ENST00000370754.5 - 3 378 c.379T>C c.(379-381)Ttt>Ctt p.F127L Q03001 DYST_HUMAN dystonin 0 Actin-binding.|CH 1. cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) GAGTGATAAAATTCTGGCTGG 0.418000 12 353 0 0 1 0 0 HSD3B7 80270 broad.mit.edu 37 16 30999363 30999363 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:30999363G>A ENST00000297679.5 + 7 1062 c.969G>A c.(967-969)acG>acA p.T323T HSD3B7_ENST00000353250.5_3'UTR|HSD3B7_ENST00000262520.6_3'UTR NM_025193.3 NP_079469.2 Q9H2F3 3BHS7_HUMAN hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 323 bile acid biosynthetic process endoplasmic reticulum membrane|integral to membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 ACCCCTACACGCTGGCCGTGG 0.642000 20 60 0 0 1 0 0 NPY 4852 broad.mit.edu 37 7 24324889 24324889 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:24324889C>T ENST00000407573.1 + 3 320 c.30C>T c.(28-30)tcC>tcT p.S10S NPY_ENST00000242152.2_Silent_p.S10S|NPY_ENST00000405982.1_Silent_p.S10S P01303 NPY_HUMAN neuropeptide Y 10 adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission cell|extracellular space calcium channel regulator activity|G-protein coupled receptor activity|neuropeptide hormone activity breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1) 9 TGGGGCTGTCCGGACTGACCC 0.677000 19 84 0 0 1 0 0 NHLRC2 374354 broad.mit.edu 37 10 115668258 115668258 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:115668258G>A ENST00000369301.3 + 11 2356 c.2144G>A c.(2143-2145)gGt>gAt p.G715D NM_198514.3 NP_940916.2 Q8NBF2 NHLC2_HUMAN NHL repeat containing 2 715 cell redox homeostasis breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 15 Epithelial(162;0.017)|all cancers(201;0.0187) ACACAGCAAGGTTGCATAGCT 0.448000 16 56 0 0 1 0 0 SIPA1L1 26037 broad.mit.edu 37 14 72139141 72139141 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:72139141A>G ENST00000555818.1 + 9 3254 c.2906A>G c.(2905-2907)aAc>aGc p.N969S SIPA1L1_ENST00000358550.2_Missense_Mutation_p.N969S|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.N969S|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.N444S NM_015556.1 NP_056371.1 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1 969 PDZ. actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) TTCCATGTCAACTATGAGGGC 0.527000 30 73 0 0 1 0 0 NTN1 9423 broad.mit.edu 37 17 9066277 9066277 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:9066277G>A ENST00000173229.2 + 3 1273 c.1166G>A c.(1165-1167)cGc>cAc p.R389H NTN1_ENST00000538852.1_Missense_Mutation_p.R389H|NTN1_ENST00000546090.1_Missense_Mutation_p.R389H NM_004822.2 NP_004813.2 O95631 NET1_HUMAN netrin 1 389 Laminin EGF-like 2. apoptosis|axon guidance protein binding NTN1/ACLY(2) central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(5) 13 GGCTACTACCGCGACATGGGC 0.662000 9 18 0 0 1 0 0 UBN2 254048 broad.mit.edu 37 7 138968955 138968955 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:138968955A>G ENST00000288561.8 + 15 3304 c.3055A>G c.(3055-3057)Agc>Ggc p.S1019G UBN2_ENST00000473989.2_Missense_Mutation_p.S1102G NM_173569.3 NP_775840.3 Q6ZU65 UBN2_HUMAN ubinuclein 2 1102 Ser-rich. NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 42 TGCCCAGGGTAGCCACTCCAG 0.478000 6 174 0 0 1 0 0 JMJD7-PLA2G4B 8681 broad.mit.edu 37 15 42129290 42129290 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:42129290A>G ENST00000542534.1 + 8 927 c.887A>G c.(886-888)tAc>tGc p.Y296C JMJD7_ENST00000408047.1_Missense_Mutation_p.Y197C|JMJD7-PLA2G4B_ENST00000476036.1_Intron|JMJD7_ENST00000397299.4_Missense_Mutation_p.Y296C|JMJD7-PLA2G4B_ENST00000382448.4_Intron|JMJD7-PLA2G4B_ENST00000342159.4_Intron NM_001114632.1 NP_001108104.1 P0C869 PA24B_HUMAN 0 PLA2c. arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition cytosol|early endosome membrane|extracellular region|mitochondrial membrane calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2) 25 GACATGGAATACGACCTCAAG 0.552000 14 23 0 0 1 0 0 IGFBP2 3485 broad.mit.edu 37 2 217498647 217498647 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:217498647G>A ENST00000233809.4 + 1 530 c.401G>A c.(400-402)cGc>cAc p.R134H NM_000597.2 NP_000588.2 P18065 IBP2_HUMAN insulin-like growth factor binding protein 2, 36kDa 134 IGFBP N-terminal. positive regulation of activated T cell proliferation|regulation of cell growth|regulation of insulin-like growth factor receptor signaling pathway extracellular space insulin-like growth factor I binding|insulin-like growth factor II binding endometrium(2)|large_intestine(1)|lung(2) 5 Renal(323;0.0458) Epithelial(149;2.9e-06)|all cancers(144;0.000223)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00968) TGTGAGAAGCGCCGGGACGCC 0.682000 4 7 0 0 1 0 0 YLPM1 56252 broad.mit.edu 37 14 75265091 75265091 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:75265091A>G ENST00000325680.7 + 5 3215 c.3091A>G c.(3091-3093)Aca>Gca p.T1031A YLPM1_ENST00000552421.1_Intron|YLPM1_ENST00000238571.3_Missense_Mutation_p.T836A NM_019589.2 NP_062535.2 P49750 YLPM1_HUMAN YLP motif containing 1 836 Arg-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 62 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) AATGGAAGACACACGGGATAA 0.488000 45 131 0 0 1 0 0 TMTC2 160335 broad.mit.edu 37 12 83358812 83358812 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:83358812T>C ENST00000549919.1 + 6 3395 c.1590T>C c.(1588-1590)ctT>ctC p.L530L TMTC2_ENST00000548305.1_Silent_p.L536L|TMTC2_ENST00000321196.3_Silent_p.L536L Q8N394 TMTC2_HUMAN transmembrane and tetratricopeptide repeat containing 2 536 endoplasmic reticulum|integral to membrane binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1) 39 GAGGGCTACTTCTCCAGGAGA 0.343000 22 70 0 0 1 0 0 UBA52 7311 broad.mit.edu 37 19 18685871 18685871 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:18685871T>C ENST00000442744.2 + 5 356 c.298T>C c.(298-300)Tat>Cat p.Y100H UBA52_ENST00000595683.1_Missense_Mutation_p.Y100H|UBA52_ENST00000599595.1_Missense_Mutation_p.Y100H|UBA52_ENST00000597451.1_Missense_Mutation_p.Y100H|UBA52_ENST00000598780.1_Missense_Mutation_p.Y100H|UBA52_ENST00000595158.1_Missense_Mutation_p.Y100H|CRLF1_ENST00000594325.1_Intron|UBA52_ENST00000599551.1_Missense_Mutation_p.Y100H|UBA52_ENST00000596304.1_Missense_Mutation_p.Y100H|UBA52_ENST00000596273.1_Missense_Mutation_p.Y100H|UBA52_ENST00000430157.2_Missense_Mutation_p.Y100H NM_001033930.1 NP_001029102.1 P62987 RL40_HUMAN ubiquitin A-52 residue ribosomal protein fusion product 1 100 activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endocrine pancreas development|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|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|translational elongation|translational termination|viral transcription cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane|ribosome protein binding|structural constituent of ribosome endometrium(1)|large_intestine(2) 3 GTGCAGGTGCTATGCTCGCCT 0.582000 12 114 0 0 1 0 0 ZMYM6 9204 broad.mit.edu 37 1 35484929 35484929 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:35484929A>G ENST00000317538.5 - 4 617 c.453T>C c.(451-453)ttT>ttC p.F151F ZMYM6_ENST00000373333.1_Silent_p.F151F|ZMYM6_ENST00000493328.1_Intron|ZMYM6_ENST00000487874.1_Intron|ZMYM6_ENST00000357182.4_Intron|ZMYM6_ENST00000373340.2_Intron O95789 ZMYM6_HUMAN zinc finger, MYM-type 6 331 multicellular organismal development nucleus DNA binding|zinc ion binding breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1) 44 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13) AGGTAAAGTAAAAAGGGATGT 0.358000 22 80 0 0 1 0 0 EEF1DP3 196549 broad.mit.edu 37 13 32527481 32527481 + RNA SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr13:32527481G>A ENST00000428783.1 + 0 1181 TGTCGACATCGCAGCTTTCAA 0.488000 12 62 0 0 1 0 0 IDO2 169355 broad.mit.edu 37 8 39872932 39872932 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:39872932C>T ENST00000502986.2 + 11 1316 c.1074C>T c.(1072-1074)agC>agT p.S358S IDO2_ENST00000343295.4_3'UTR|IDO2_ENST00000389060.4_Silent_p.S345S NM_194294.2 NP_919270.2 Q6ZQW0 I23O2_HUMAN indoleamine 2,3-dioxygenase 2 345 tryptophan catabolic process to kynurenine cytosol heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1) 18 AGCTGCGGAGCTATCACATCA 0.542000 4 82 0 0 1 0 0 PPP5C 5536 broad.mit.edu 37 19 46879823 46879823 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:46879823G>A ENST00000012443.4 + 4 728 c.625G>A c.(625-627)Gcc>Acc p.A209T PPP5C_ENST00000391919.1_Missense_Mutation_p.A103T NM_006247.3 NP_006238.1 P53041 PPP5_HUMAN protein phosphatase 5, catalytic subunit 209 Catalytic. mitosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein dephosphorylation|transcription, DNA-dependent Golgi apparatus|nucleus metal ion binding|protein binding|protein serine/threonine phosphatase activity|signal transducer activity endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1) 18 Ovarian(192;0.0731)|all_neural(266;0.196) OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504) CCGGAAATGTGCCTACCAGGT 0.547000 17 74 0 0 1 0 0 TRAV1-1 28693 broad.mit.edu 37 14 22090072 22090072 + RNA SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:22090072C>A ENST00000542354.1 + 0 82 GGGAGCTTTCCTTCTCTATGT 0.443000 21 59 1.1804e-14 1.23573e-14 1 1 0 GCN1L1 10985 broad.mit.edu 37 12 120585076 120585076 + Splice_Site SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:120585076G>A ENST00000300648.6 - 38 4739 c.4726_splice c.e38-1 p.A1576_splice NM_006836.1 NP_006827.1 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1-like 1 (yeast) 1576 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TGGAGCAATGGCTGCACATCC 0.532000 11 38 0 0 1 0 0 WNT5A 7474 broad.mit.edu 37 3 55504242 55504242 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:55504242C>T ENST00000474267.1 - 6 1542 c.1021G>A c.(1021-1023)Ggc>Agc p.G341S WNT5A_ENST00000264634.4_Missense_Mutation_p.G341S|WNT5A_ENST00000497027.1_Missense_Mutation_p.G326S P41221 WNT5A_HUMAN wingless-type MMTV integration site family, member 5A 341 activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1) 13 KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204) TAGCCACGGCCGCAGCACATG 0.627000 22 90 0 0 1 0 0 MRPL50 54534 broad.mit.edu 37 9 104152834 104152834 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:104152834T>C ENST00000374865.4 - 2 412 c.391A>G c.(391-393)Aat>Gat p.N131D MRPL50_ENST00000539624.1_Intron NM_019051.2 NP_061924.1 Q8N5N7 RM50_HUMAN mitochondrial ribosomal protein L50 131 mitochondrion|ribosome large_intestine(1)|lung(2)|prostate(2) 5 Acute lymphoblastic leukemia(62;0.0559) ATAGGGACATTATAGAAATCA 0.413000 35 63 0 0 1 0 0 ZSCAN18 65982 broad.mit.edu 37 19 58596693 58596693 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:58596693C>T ENST00000240727.6 - 7 1291 c.892G>A c.(892-894)Gcg>Acg p.A298T ZSCAN18_ENST00000600404.1_Missense_Mutation_p.A354T|ZSCAN18_ENST00000601144.1_Missense_Mutation_p.A298T|ZSCAN18_ENST00000421612.2_Missense_Mutation_p.A162T NM_023926.4 NP_076415.3 Q8TBC5 ZSC18_HUMAN zinc finger and SCAN domain containing 18 298 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3) 19 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) AGCACCCCCGCGGGGGCGGCC 0.736000 13 25 0 0 1 0 0 GM2A 2760 broad.mit.edu 37 5 150646297 150646297 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:150646297T>C ENST00000357164.3 + 3 574 c.249T>C c.(247-249)gaT>gaC p.D83D NM_000405.4|NM_001167607.1 NP_000396.2|NP_001161079.1 P17900 SAP3_HUMAN GM2 ganglioside activator 83 lysosome|nucleolus sphingolipid activator protein activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|upper_aerodigestive_tract(2) 8 Medulloblastoma(196;0.091)|all_hematologic(541;0.207) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ACCAGGTGGATTTAGTTTTGG 0.408000 29 66 0 0 1 0 0 ARHGAP39 80728 broad.mit.edu 37 8 145756141 145756141 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:145756141T>C ENST00000276826.5 - 9 3203 c.3002A>G c.(3001-3003)cAc>cGc p.H1001R ARHGAP39_ENST00000377307.2_Missense_Mutation_p.H1032R|ARHGAP39_ENST00000540274.1_Missense_Mutation_p.H1001R Q9C0H5 RHG39_HUMAN Rho GTPase activating protein 39 1001 Rho-GAP. axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|nucleus GTPase activator activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 GGGCAGCGCGTGCACCACGGC 0.692000 5 36 0 0 1 0 0 FLYWCH1 84256 broad.mit.edu 37 16 2983960 2983960 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:2983960C>T ENST00000399667.2 + 6 1856 c.1493C>T c.(1492-1494)aCg>aTg p.T498M FLYWCH1_ENST00000416288.2_Missense_Mutation_p.T497M|FLYWCH1_ENST00000253928.9_Missense_Mutation_p.T498M Q4VC44 FWCH1_HUMAN FLYWCH-type zinc finger 1 498 nucleus DNA binding|metal ion binding kidney(1)|lung(3) 4 CGCCCCAACACGGCGCAGCGG 0.711000 3 4 0 0 1 0 0 TCEB3C 162699 broad.mit.edu 37 18 44555088 44555088 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr18:44555088A>G ENST00000330682.2 - 1 1361 c.1126T>C c.(1126-1128)Tac>Cac p.Y376H KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron NM_145653.3 NP_663628.2 Q8NG57 ELOA3_HUMAN transcription elongation factor B polypeptide 3C (elongin A3) 376 Activation domain (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane|nucleus DNA binding NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2) 30 TCTGTGCGGTACAGCTGATCG 0.572000 40 1427 0 0 1 0 0 FAM227B 196951 broad.mit.edu 37 15 49903433 49903433 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:49903433T>C ENST00000299338.6 - 3 387 c.84A>G c.(82-84)gaA>gaG p.E28E FAM227B_ENST00000561064.1_Silent_p.E28E|FAM227B_ENST00000558862.1_5'UTR|FAM227B_ENST00000558594.1_Silent_p.E28E|FAM227B_ENST00000560246.1_Silent_p.E28E NM_152647.2 NP_689860.2 family with sequence similarity 227, member B ACTTTAAGAATTCTTCAATGC 0.279000 4 32 0 0 1 0 0 NRROS 375387 broad.mit.edu 37 3 196388515 196388515 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:196388515C>T ENST00000328557.4 + 3 2204 c.2001C>T c.(1999-2001)tgC>tgT p.C667C NM_198565.1 NP_940967.1 negative regulator of reactive oxygen species TGGTGGCCTGCACTGTCATCG 0.617000 8 237 0 0 1 0 0 KL 9365 broad.mit.edu 37 13 33590977 33590977 + Missense_Mutation SNP C C G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr13:33590977C>G ENST00000380099.3 + 1 407 c.399C>G c.(397-399)ttC>ttG p.F133L KL_ENST00000426690.2_Intron|KL_ENST00000487852.1_3'UTR NM_004795.3 NP_004786.2 Q9UEF7 KLOT_HUMAN klotho 133 Glycosyl hydrolase-1 1. aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5) 41 all_epithelial(80;0.133) Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05) ACAACGTCTTCCGCGACACGG 0.711000 8 46 0 0 1 0 0 GNPTAB 79158 broad.mit.edu 37 12 102154939 102154939 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:102154939G>A ENST00000299314.7 - 15 3363 c.3101C>T c.(3100-3102)gCt>gTt p.A1034V NM_024312.4 NP_077288.2 Q3T906 GNPTA_HUMAN N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits 1034 EF-hand. cell differentiation Golgi membrane|integral to membrane|nucleus metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 37 AATTCTGGTAGCCAGTGTTCG 0.393000 10 79 0 0 1 0 0 OR8B2 26595 broad.mit.edu 37 11 124253109 124253109 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:124253109C>T ENST00000375013.2 - 1 149 c.131G>A c.(130-132)gGc>gAc p.G44D NM_001005468.1 NP_001005468.1 Q96RD0 OR8B2_HUMAN olfactory receptor, family 8, subfamily B, member 2 44 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1) 23 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) AGTGATCAAGCCAAGGTTGCC 0.418000 54 162 0 0 1 0 0 PCDH19 57526 broad.mit.edu 37 X 99662682 99662682 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chrX:99662682T>C ENST00000373034.4 - 1 2589 c.914A>G c.(913-915)gAc>gGc p.D305G PCDH19_ENST00000255531.7_Missense_Mutation_p.D305G|PCDH19_ENST00000420881.2_Missense_Mutation_p.D305G NM_001184880.1 NP_001171809.1 Q8TAB3 PCD19_HUMAN protocadherin 19 305 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 68 CTCTTCGTAGTCTAAAGCGCC 0.597000 33 31 0 0 1 0 0 RTN3 10313 broad.mit.edu 37 11 63487380 63487380 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:63487380A>G ENST00000377819.5 + 3 1560 c.1406A>G c.(1405-1407)aAa>aGa p.K469R RTN3_ENST00000341307.2_Intron|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000540798.1_Missense_Mutation_p.K357R|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000339997.4_Missense_Mutation_p.K450R NM_001265589.1 NP_001252518.1 O95197 RTN3_HUMAN reticulon 3 469 apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 20 GCCACAGTGAAAGTGGTTTTA 0.468000 5 132 0 0 1 0 0 BAG3 9531 broad.mit.edu 37 10 121431897 121431897 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:121431897A>G ENST00000369085.3 + 3 944 c.638A>G c.(637-639)gAg>gGg p.E213G NM_004281.3 NP_004272.2 O95817 BAG3_HUMAN BCL2-associated athanogene 3 213 anti-apoptosis|apoptosis|protein folding cytosol endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 20 Lung NSC(174;0.109)|all_lung(145;0.142) all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148) GTGATACACGAGCAGAACGTT 0.652000 46 113 0 0 1 0 0 CDCA7L 55536 broad.mit.edu 37 7 21947818 21947818 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:21947818C>T ENST00000406877.3 - 4 890 c.611G>A c.(610-612)cGg>cAg p.R204Q CDCA7L_ENST00000356195.5_Missense_Mutation_p.R170Q|CDCA7L_ENST00000373934.4_Missense_Mutation_p.R158Q|CDCA7L_ENST00000465490.1_5'UTR NM_018719.4 NP_061189.2 Q96GN5 CDA7L_HUMAN cell division cycle associated 7-like 204 positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1) 29 GCTCTCATCCCGAGAGTCATC 0.463000 17 31 0 0 1 0 0 MYOM3 127294 broad.mit.edu 37 1 24390588 24390588 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:24390588T>C ENST00000330966.7 - 30 3767 c.3605A>G c.(3604-3606)gAc>gGc p.D1202G MYOM3_ENST00000338909.5_Missense_Mutation_p.D92G|MYOM3_ENST00000374434.3_Missense_Mutation_p.D1199G|RP11-293P20.2_ENST00000439239.2_RNA Q5VTT5 MYOM3_HUMAN myomesin 3 1199 Ig-like C2-type 3. NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 68 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) CAATATGGTGTCGTCCTCCCC 0.547000 20 68 0 0 1 0 0 CUX1 1523 broad.mit.edu 37 7 101840547 101840547 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:101840547A>G ENST00000360264.3 + 15 1909 c.1889A>G c.(1888-1890)aAc>aGc p.N630S CUX1_ENST00000556210.1_Missense_Mutation_p.N517S|CUX1_ENST00000549414.2_Missense_Mutation_p.N619S|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000550008.2_Missense_Mutation_p.N619S|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.N517S|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000292535.7_Missense_Mutation_p.N619S NM_001202543.1 NP_001189472.1 P39880 CUX1_HUMAN cut-like homeobox 1 619 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5) 70 GATGAGCAGAACATCCTGGCC 0.562000 38 105 0 0 1 0 0 TBC1D32 221322 broad.mit.edu 37 6 121577312 121577312 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:121577312C>T ENST00000275159.6 - 16 1852 c.1853G>A c.(1852-1854)cGt>cAt p.R618H TBC1D32_ENST00000398212.2_Missense_Mutation_p.R618H TBC1 domain family, member 32 ATATATGTGACGACACACAGA 0.338000 14 51 0 0 1 0 0 HRNR 388697 broad.mit.edu 37 1 152187860 152187860 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:152187860C>T ENST00000368801.2 - 3 6320 c.6245G>A c.(6244-6246)gGc>gAc p.G2082D FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 2082 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCCATGTCGGCCATAGCTGGG 0.622000 71 207 0 0 1 0 0 CASP2 835 broad.mit.edu 37 7 143001775 143001775 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:143001775G>A ENST00000310447.5 + 10 1367 c.1126G>A c.(1126-1128)Gcc>Acc p.A376T CASP2_ENST00000493642.1_3'UTR NM_032982.3|NM_032983.3 NP_116764.2|NP_116765.2 P42575 CASP2_HUMAN caspase 2, apoptosis-related cysteine peptidase 376 apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein maturation by peptide bond cleavage cytosol cysteine-type endopeptidase activity|enzyme binding|protein binding|protein domain specific binding endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1) 21 Melanoma(164;0.059) AGGGACTGCCGCCATGCGGAA 0.537000 22 109 0 0 1 0 0 ABHD4 63874 broad.mit.edu 37 14 23070609 23070609 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:23070609C>T ENST00000428304.2 + 2 131 c.61C>T c.(61-63)Cgc>Tgc p.R21C ABHD4_ENST00000544562.1_3'UTR NM_022060.2 NP_071343.2 Q8TB40 ABHD4_HUMAN abhydrolase domain containing 4 21 lipid catabolic process hydrolase activity p.R21C(1) breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(3)|prostate(1) 14 all_cancers(95;5.49e-05) GBM - Glioblastoma multiforme(265;0.0153) GCCCACGTGGCGCCCCACTTC 0.542000 29 84 0 0 1 0 0 RAB25 57111 broad.mit.edu 37 1 156039463 156039463 + Splice_Site SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:156039463A>G ENST00000361084.5 + 4 676 c.433_splice c.e4-1 p.E145_splice RAB25_ENST00000487325.1_3'UTR NM_020387.2 NP_065120.2 P57735 RAB25_HUMAN RAB25, member RAS oncogene family 145 positive regulation of cell proliferation|protein transport|pseudopodium organization|small GTPase mediated signal transduction cytoplasmic membrane-bounded vesicle|pseudopodium membrane GTP binding|identical protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 5 Hepatocellular(266;0.158)|all_neural(408;0.195) TCCTGGCAGAAAACAATGGAC 0.408000 133 412 0 0 1 0 0 SPATC1 375686 broad.mit.edu 37 8 145096225 145096225 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:145096225C>T ENST00000377470.3 + 4 1501 c.1399C>T c.(1399-1401)Cgg>Tgg p.R467W SPATC1_ENST00000447830.2_Intron NM_198572.2 NP_940974.2 Q76KD6 SPERI_HUMAN spermatogenesis and centriole associated 1 467 NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 15 all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) AGAGCGCGTACGGCTCTACGG 0.637000 19 65 0 0 1 0 0 JAK3 3718 broad.mit.edu 37 19 17940942 17940942 + Missense_Mutation SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:17940942G>T ENST00000458235.1 - 23 3281 c.3182C>A c.(3181-3183)cCg>cAg p.P1061Q JAK3_ENST00000527670.1_Missense_Mutation_p.P1061Q|JAK3_ENST00000534444.1_Missense_Mutation_p.P1061Q NM_000215.3 NP_000206.2 P52333 JAK3_HUMAN Janus kinase 3 1061 Protein kinase 2. B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis cytoskeleton|cytosol|endomembrane system|membrane ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5) 147 AGGAGGCGCCGGCAGCCTCTG 0.682000 2 Mis """acute megakaryocytic leukemia, ETP ALL""" 4 11 0.000602214 0.000609374 1 1 0 UBQLN4 56893 broad.mit.edu 37 1 156021624 156021624 + Missense_Mutation SNP A A C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:156021624A>C ENST00000368309.3 - 2 225 c.133T>G c.(133-135)Ttt>Gtt p.F45V UBQLN4_ENST00000368307.1_Missense_Mutation_p.F45V|UBQLN4_ENST00000472638.1_5'UTR NM_020131.3 NP_064516.2 Q9NRR5 UBQL4_HUMAN ubiquilin 4 45 Ubiquitin-like. cytosol|endoplasmic reticulum membrane|nucleus identical protein binding NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2) 16 Hepatocellular(266;0.133)|all_neural(408;0.195) TGAGCCTTAAACCTCCGGGAG 0.547000 19 43 0 0 1 0 0 CHST7 56548 broad.mit.edu 37 X 46434414 46434414 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chrX:46434414G>A ENST00000276055.3 + 1 1196 c.1048G>A c.(1048-1050)Gaa>Aaa p.E350K NM_019886.2 NP_063939.2 Q9NS84 CHST7_HUMAN carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 7 350 chondroitin sulfate biosynthetic process|N-acetylglucosamine metabolic process Golgi membrane|integral to membrane chondroitin 6-sulfotransferase activity|N-acetylglucosamine 6-O-sulfotransferase activity breast(3)|endometrium(2)|kidney(1)|lung(2) 8 GGTGATCTGCGAAGCCTGGCT 0.751000 3 7 0 0 1 0 0 TANC1 85461 broad.mit.edu 37 2 160028677 160028677 + Missense_Mutation SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:160028677C>A ENST00000263635.6 + 11 1634 c.1397C>A c.(1396-1398)cCg>cAg p.P466Q TANC1_ENST00000454300.1_Missense_Mutation_p.P360Q NM_001145909.1|NM_033394.2 NP_001139381.1|NP_203752.2 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 466 cell junction|postsynaptic density|postsynaptic membrane binding breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 77 TTGCTTTCACCGAGTTCTTCC 0.473000 14 65 9.16793e-09 9.46157e-09 1 1 0 JPH4 84502 broad.mit.edu 37 14 24040173 24040173 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:24040173G>A ENST00000397118.3 - 6 2669 c.1767C>T c.(1765-1767)ctC>ctT p.L589L JPH4_ENST00000544177.1_Silent_p.L254L|JPH4_ENST00000356300.4_Silent_p.L589L NM_032452.2 NP_115828.2 Q96JJ6 JPH4_HUMAN junctophilin 4 589 calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(95;0.000251) GBM - Glioblastoma multiforme(265;0.00654) CGGGCTCCCCGAGCTCTTCTG 0.667000 12 32 0 0 1 0 0 C3orf14 57415 broad.mit.edu 37 3 62307621 62307621 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:62307621A>G ENST00000494481.1 + 4 384 c.70A>G c.(70-72)Atg>Gtg p.M24V PTPRG-AS1_ENST00000490916.1_RNA|C3orf14_ENST00000232519.5_Missense_Mutation_p.M24V|C3orf14_ENST00000462069.1_Missense_Mutation_p.M24V|C3orf14_ENST00000542214.1_Missense_Mutation_p.M24V|PTPRG-AS1_ENST00000495542.1_RNA|C3orf14_ENST00000486169.1_3'UTR Q9HBI5 CC014_HUMAN chromosome 3 open reading frame 14 24 central_nervous_system(1)|large_intestine(1)|lung(1) 3 BRCA - Breast invasive adenocarcinoma(55;0.00023)|KIRC - Kidney renal clear cell carcinoma(15;0.00877)|Kidney(15;0.0101) ACAAAGATTAATGTTACTTCA 0.299000 12 28 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593016 96593016 + Missense_Mutation SNP C C A rs79307257 by1000genomes TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:96593016C>A ENST00000456556.1 - 28 1969 c.1885G>T c.(1885-1887)Gat>Tat p.D629Y ankyrin repeat domain 36C p.D629Y(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 GAAACAGAATCTTTCTCATCA 0.318000 5 74 0.184627 0.184914 1 1 0 RASGRF2 5924 broad.mit.edu 37 5 80369244 80369244 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:80369244A>G ENST00000265080.4 + 5 927 c.860A>G c.(859-861)gAc>gGc p.D287G RASGRF2_ENST00000502677.1_3'UTR NM_006909.2 NP_008840.1 O14827 RGRF2_HUMAN Ras protein-specific guanine nucleotide-releasing factor 2 287 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane protein binding|Rho guanyl-nucleotide exchange factor activity biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) ATCAGCCACGACGACGTCAGC 0.463000 11 74 0 0 1 0 0 LRRN3 54674 broad.mit.edu 37 7 110764429 110764429 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:110764429C>T ENST00000451085.1 + 4 2647 c.1601C>T c.(1600-1602)gCc>gTc p.A534V IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000450877.1_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.A534V|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000452895.1_Intron|LRRN3_ENST00000422987.3_Missense_Mutation_p.A534V NM_001099660.1 NP_001093130.1 Q9H3W5 LRRN3_HUMAN leucine rich repeat neuronal 3 534 Fibronectin type-III. integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 55 UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125) GATATTCAGGCCAATTCAGTT 0.373000 6 36 0 0 1 0 0 FAM220A 84792 broad.mit.edu 37 7 6370604 6370604 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:6370604A>G ENST00000313324.4 - 2 649 c.182T>C c.(181-183)tTa>tCa p.L61S NM_001037163.1 NP_001032240.1 Q7Z4H9 SIPAR_HUMAN family with sequence similarity 220, member A 61 nucleus TTCCAGTGATAATGCCTCACT 0.512000 12 80 0 0 1 0 0 SLC22A8 9376 broad.mit.edu 37 11 62782126 62782126 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:62782126T>C ENST00000336232.2 - 2 440 c.305A>G c.(304-306)aAc>aGc p.N102S SLC22A8_ENST00000311438.8_Missense_Mutation_p.N102S|SLC22A8_ENST00000535878.1_Intron|SLC22A8_ENST00000430500.2_Missense_Mutation_p.N102S|SLC22A8_ENST00000545207.1_Missense_Mutation_p.N11S NM_001184732.1|NM_001184736.1|NM_004254.3 NP_001171661.1|NP_001171665.1|NP_004245.2 Q8TCC7 S22A8_HUMAN solute carrier family 22 (organic anion transporter), member 8 102 response to toxin basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|organic anion transmembrane transporter activity endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 28 CTTGGTGCTGTTGTAGACCCA 0.602000 78 171 0 0 1 0 0 HSF5 124535 broad.mit.edu 37 17 56565313 56565313 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:56565313A>G ENST00000323777.3 - 1 432 c.323T>C c.(322-324)cTc>cCc p.L108P NM_001080439.1 NP_001073908.1 Q4G112 HSF5_HUMAN heat shock transcription factor family member 5 108 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1) 16 Medulloblastoma(34;0.127)|all_neural(34;0.237) GAAGTGATGGAGCGGCCCATT 0.682000 12 31 0 0 1 0 0 RPS25 6230 broad.mit.edu 37 11 118888739 118888739 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:118888739T>C ENST00000527673.1 - 2 433 c.28A>G c.(28-30)Aag>Gag p.K10E RPS25_ENST00000528547.1_5'UTR NM_001028.2 NP_001019.1 P62851 RS25_HUMAN ribosomal protein S25 10 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|nucleolus protein binding|RNA binding endometrium(1) 1 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207) BRCA - Breast invasive adenocarcinoma(274;7.55e-05) CCAGCGTCCTTCTTCTTCTTG 0.532000 47 104 0 0 1 0 0 DNM1P47 100216544 broad.mit.edu 37 15 102304793 102304793 + RNA SNP A A C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:102304793A>C ENST00000561463.1 + 0 12839 GCGTGGGAAGAAGAAGACACT 0.592000 3 18 0 0 1 0 0 DEPDC5 9681 broad.mit.edu 37 22 32200867 32200867 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr22:32200867G>A ENST00000400246.1 + 17 1325 c.1183G>A c.(1183-1185)Gat>Aat p.D395N DEPDC5_ENST00000400249.2_Missense_Mutation_p.D395N|DEPDC5_ENST00000536766.1_Missense_Mutation_p.D367N|DEPDC5_ENST00000382105.2_Missense_Mutation_p.D395N|DEPDC5_ENST00000266091.3_Missense_Mutation_p.D395N|DEPDC5_ENST00000535622.1_Missense_Mutation_p.D395N|DEPDC5_ENST00000382112.3_Missense_Mutation_p.D395N|DEPDC5_ENST00000400242.3_Missense_Mutation_p.D395N|DEPDC5_ENST00000400248.1_Missense_Mutation_p.D395N|DEPDC5_ENST00000382111.2_Missense_Mutation_p.D395N O75140 DEPD5_HUMAN DEP domain containing 5 395 intracellular signal transduction breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 TCGTCTGGGCGATGACTATAA 0.453000 53 180 0 0 1 0 0 TPCN1 53373 broad.mit.edu 37 12 113711398 113711398 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:113711398C>T ENST00000550785.1 + 11 1252 c.1083C>T c.(1081-1083)tcC>tcT p.S361S TPCN1_ENST00000541517.1_Silent_p.S361S|TPCN1_ENST00000392569.4_Silent_p.S221S|TPCN1_ENST00000335509.6_Silent_p.S289S NM_001143819.1 NP_001137291.1 Q9ULQ1 TPC1_HUMAN two pore segment channel 1 289 endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1) 40 TGATGCCCTCCTACTCCCGGA 0.542000 67 244 0 0 1 0 0 ANKAR 150709 broad.mit.edu 37 2 190554370 190554370 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:190554370C>T ENST00000520309.1 + 3 807 c.719C>T c.(718-720)gCt>gTt p.A240V ANKAR_ENST00000438402.2_Missense_Mutation_p.A240V|ANKAR_ENST00000431575.2_Missense_Mutation_p.A169V|ANKAR_ENST00000281412.6_Missense_Mutation_p.A4V|ANKAR_ENST00000461516.1_3'UTR|ANKAR_ENST00000313581.4_Missense_Mutation_p.A240V NM_144708.3 NP_653309.3 Q7Z5J8 ANKAR_HUMAN ankyrin and armadillo repeat containing 240 integral to membrane binding breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2) 46 OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744) ATGAAATATGCTGAAAATATT 0.323000 4 94 0 0 1 0 0 FAM179A 165186 broad.mit.edu 37 2 29258406 29258406 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:29258406C>T ENST00000379558.4 + 17 2653 c.2302C>T c.(2302-2304)Cgg>Tgg p.R768W FAM179A_ENST00000403861.2_Missense_Mutation_p.R713W|FAM179A_ENST00000465300.1_3'UTR NM_199280.2 NP_954974.2 Q6ZUX3 F179A_HUMAN family with sequence similarity 179, member A 768 binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 GGAGCAGCTACGGGAGCTGAC 0.662000 5 8 0 0 1 0 0 SP3 6670 broad.mit.edu 37 2 174777830 174777830 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:174777830T>C ENST00000310015.6 - 6 2527 c.1997A>G c.(1996-1998)gAt>gGt p.D666G SP3_ENST00000455789.2_Missense_Mutation_p.D613G|SP3_ENST00000418194.2_Missense_Mutation_p.D598G NM_001172712.1|NM_003111.4 NP_001166183.1|NP_003102.1 Q02447 SP3_HUMAN Sp3 transcription factor 666 negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent PML body protein binding|zinc ion binding EWSR1/SP3(3) NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 9 OV - Ovarian serous cystadenocarcinoma(117;0.185) CTGTAATTCATCACTTCGAGT 0.393000 15 54 0 0 1 0 0 OR5M9 390162 broad.mit.edu 37 11 56230001 56230001 + Nonsense_Mutation SNP T T A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:56230001T>A ENST00000279791.1 - 1 876 c.877A>T c.(877-879)Aag>Tag p.K293* NM_001004743.1 NP_001004743.1 Q8NGP3 OR5M9_HUMAN olfactory receptor, family 5, subfamily M, member 9 293 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2) 36 Esophageal squamous(21;0.00448) TTTACATCCTTATTTCTCAGA 0.413000 6 88 0 0 1 0 0 TSKU 25987 broad.mit.edu 37 11 76507404 76507404 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:76507404T>C ENST00000527881.1 + 2 1770 c.744T>C c.(742-744)agT>agC p.S248S TSKU_ENST00000333090.4_Silent_p.S248S Q8WUA8 TSK_HUMAN tsukushi, small leucine rich proteoglycan 248 S -> N (in dbSNP:rs11236938). extracellular region NS(1)|large_intestine(4)|lung(6)|urinary_tract(1) 12 Ovarian(111;0.112) TGGCGCCCAGTGGCTTCCGTG 0.652000 15 197 0 0 1 0 0 GABRA1 2554 broad.mit.edu 37 5 161324371 161324371 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:161324371C>T ENST00000428797.2 + 11 1669 c.1314C>T c.(1312-1314)taC>taT p.Y438Y GABRA1_ENST00000444819.1_Silent_p.Y438Y|GABRA1_ENST00000393943.4_Silent_p.Y438Y|GABRA1_ENST00000420560.1_Silent_p.Y438Y|GABRA1_ENST00000023897.6_Silent_p.Y438Y|GABRA1_ENST00000437025.2_Silent_p.Y438Y NM_001127643.1 NP_001121115.1 P14867 GBRA1_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 1 438 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1) 42 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.228) Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425) ACTTAGTCTACTGGGCTACGT 0.433000 43 133 0 0 1 0 0 DPYSL4 10570 broad.mit.edu 37 10 134017276 134017276 + Missense_Mutation SNP T T A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:134017276T>A ENST00000338492.4 + 13 1636 c.1472T>A c.(1471-1473)aTc>aAc p.I491N DPYSL4_ENST00000368629.1_Missense_Mutation_p.I331N|DPYSL4_ENST00000368627.1_Missense_Mutation_p.I331N NM_006426.2 NP_006417.2 O14531 DPYL4_HUMAN dihydropyrimidinase-like 4 491 axon guidance|pyrimidine base catabolic process cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19) OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206) CTGGCGGAGATCCACGGTGTG 0.716000 22 67 0 0 1 0 0 NTN5 126147 broad.mit.edu 37 19 49167911 49167911 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:49167911G>A ENST00000270235.4 - 3 840 c.745C>T c.(745-747)Cgg>Tgg p.R249W SEC1P_ENST00000430145.2_RNA NM_145807.1 NP_665806.1 Q8WTR8 NET5_HUMAN netrin 5 249 Laminin EGF-like 2. extracellular region central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1) 10 TGGCAGTGCCGCCCAGCTGTG 0.662000 8 24 0 0 1 0 0 SDF4 51150 broad.mit.edu 37 1 1154154 1154154 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:1154154T>C ENST00000263741.7 - 5 1023 c.731A>G c.(730-732)gAc>gGc p.D244G SDF4_ENST00000360001.6_Missense_Mutation_p.D244G NM_016176.3|NM_016547.2 NP_057260.2|NP_057631.1 Q9BRK5 CAB45_HUMAN stromal cell derived factor 4 244 EF-hand 4. cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis bleb|Golgi lumen|late endosome|soluble fraction calcium ion binding|identical protein binding|protein binding p.D244G(2) endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 11 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204) CTCACCCAGGTCCCGGACGAT 0.692000 42 153 0 0 1 0 0 AKAP12 9590 broad.mit.edu 37 6 151673725 151673725 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:151673725T>C ENST00000402676.2 + 4 4439 c.4199T>C c.(4198-4200)cTa>cCa p.L1400P AKAP12_ENST00000359755.5_Missense_Mutation_p.L1295P|AKAP12_ENST00000253332.1_Missense_Mutation_p.L1400P|AKAP12_ENST00000354675.6_Missense_Mutation_p.L1302P NM_005100.3 NP_005091.2 Q02952 AKA12_HUMAN A kinase (PRKA) anchor protein 12 1400 G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting cell cortex|cytoskeleton|plasma membrane adenylate cyclase binding|protein kinase A binding breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 68 Ovarian(120;0.125) BRCA - Breast invasive adenocarcinoma(37;0.175) OV - Ovarian serous cystadenocarcinoma(155;2.98e-11) CCTCCCTGCCTAGGTCAAGAG 0.507000 27 90 0 0 1 0 0 CCDC141 285025 broad.mit.edu 37 2 179720089 179720089 + Missense_Mutation SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:179720089C>A ENST00000420890.2 - 19 3162 c.3045G>T c.(3043-3045)caG>caT p.Q1015H CCDC141_ENST00000295723.5_Missense_Mutation_p.Q440H NM_173648.3 NP_775919.3 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 440 protein binding NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1) 78 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) CTATCACCTCCTGGAAATGCT 0.363000 25 75 2.12542e-12 2.21375e-12 1 1 0 EPHA3 2042 broad.mit.edu 37 3 89456441 89456441 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:89456441T>C ENST00000336596.2 + 8 1842 c.1617T>C c.(1615-1617)agT>agC p.S539S EPHA3_ENST00000494014.1_Silent_p.S539S NM_005233.5 NP_005224.2 P29320 EPHA3_HUMAN EPH receptor A3 539 extracellular region|integral to plasma membrane ATP binding NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) CTGGTGAAAGTAGCCAAGTGG 0.398000 TSP Lung(6;0.00050) 7 46 0 0 1 0 0 TRMT1 55621 broad.mit.edu 37 19 13223788 13223788 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:13223788A>G ENST00000592062.1 - 7 1249 c.679T>C c.(679-681)Ttt>Ctt p.F227L TRMT1_ENST00000221504.8_Missense_Mutation_p.F227L|TRMT1_ENST00000437766.1_Missense_Mutation_p.F227L|TRMT1_ENST00000357720.4_Missense_Mutation_p.F227L Q9NXH9 TRM1_HUMAN tRNA methyltransferase 1 homolog (S. cerevisiae) 227 RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(19;6.08e-22) GBM - Glioblastoma multiforme(1328;0.0356) ATGACGTCAAACCTCTCCGAC 0.612000 8 35 0 0 1 0 0 NECAB1 64168 broad.mit.edu 37 8 91929728 91929728 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:91929728A>G ENST00000417640.2 + 6 703 c.366A>G c.(364-366)caA>caG p.Q122Q NM_022351.4 NP_071746.1 Q8N987 NECA1_HUMAN N-terminal EF-hand calcium binding protein 1 122 antibiotic biosynthetic process cytoplasm calcium ion binding|oxidoreductase activity breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7) 12 BRCA - Breast invasive adenocarcinoma(11;0.0499) AGGACTACCAAGAAGCCTCCA 0.378000 4 72 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25415738 25415738 + RNA SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:25415738G>A ENST00000549301.1 + 0 252 SNHG14_ENST00000553149.1_RNA GCCAGTGTCCGTCTGCCAGGT 0.622000 8 43 0 0 1 0 0 CNTRL 11064 broad.mit.edu 37 9 123880772 123880772 + Missense_Mutation SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:123880772A>T ENST00000373855.1 + 12 1864 c.1604A>T c.(1603-1605)gAc>gTc p.D535V CNTRL_ENST00000238341.5_Missense_Mutation_p.D535V|CNTRL_ENST00000373865.2_3'UTR|CNTRL_ENST00000373850.1_5'UTR Q7Z7A1 CNTRL_HUMAN centriolin 535 cell division|G2/M transition of mitotic cell cycle centrosome|cytosol protein binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3) 20 GAGATTAAGGACCTGCAAATA 0.388000 24 91 0 0 1 0 0 SAMM50 25813 broad.mit.edu 37 22 44377283 44377283 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr22:44377283T>C ENST00000350028.4 + 11 1106 c.949T>C c.(949-951)Tct>Cct p.S317P SAMM50_ENST00000396202.3_Missense_Mutation_p.S107P NM_015380.4 NP_056195.3 Q9Y512 SAM50_HUMAN SAMM50 sorting and assembly machinery component 317 protein import into mitochondrial outer membrane integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex protein binding endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222) TTTTTCAGCGTCTTTCTGGGG 0.418000 15 71 0 0 1 0 0 ZBTB21 49854 broad.mit.edu 37 21 43411831 43411831 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr21:43411831G>A ENST00000310826.5 - 3 2557 c.2374C>T c.(2374-2376)Cgg>Tgg p.R792W ZBTB21_ENST00000398511.3_Missense_Mutation_p.R792W|ZBTB21_ENST00000398499.1_Missense_Mutation_p.R792W|ZBTB21_ENST00000398505.3_Missense_Mutation_p.R591W|ZBTB21_ENST00000465968.1_5'UTR NM_001098402.1 NP_001091872.1 zinc finger and BTB domain containing 21 ACCTGGTGCCGCCAGATGCTG 0.507000 64 205 0 0 1 0 0 SCN3A 6328 broad.mit.edu 37 2 165947362 165947362 + Silent SNP G G A rs138863451 byFrequency TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:165947362G>A ENST00000360093.3 - 28 5792 c.5301C>T c.(5299-5301)atC>atT p.I1767I SCN3A_ENST00000540861.1_Silent_p.I250I|SCN3A_ENST00000409101.3_Silent_p.I1718I|AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000283254.7_Silent_p.I1767I NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 1767 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) GGATGACCGCGATGTACATGT 0.453000 9 197 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126373315 126373315 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:126373315T>C ENST00000394329.3 + 9 11157 c.11144T>C c.(11143-11145)cTt>cCt p.L3715P FAT4_ENST00000335110.5_Missense_Mutation_p.L2013P NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 3715 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 AGCATCTTACTTCGTCTCGGC 0.468000 7 171 0 0 1 0 0 PNPLA8 50640 broad.mit.edu 37 7 108155015 108155015 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:108155015A>G ENST00000426128.2 - 2 1046 c.921T>C c.(919-921)ggT>ggC p.G307G PNPLA8_ENST00000436062.1_Silent_p.G307G|PNPLA8_ENST00000483879.1_Intron|PNPLA8_ENST00000257694.8_Silent_p.G307G|PNPLA8_ENST00000453144.1_Silent_p.G207G|PNPLA8_ENST00000388728.5_Silent_p.G307G|PNPLA8_ENST00000422087.1_Silent_p.G307G NM_001256009.1 NP_001242938.1 Q9NP80 PLPL8_HUMAN patatin-like phospholipase domain containing 8 307 fatty acid metabolic process|lipid catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3) 29 GGACAAGTCCACCAATATAAC 0.408000 5 167 0 0 1 0 0 UTP15 84135 broad.mit.edu 37 5 72863173 72863173 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:72863173G>A ENST00000296792.4 + 2 259 c.4G>A c.(4-6)Gct>Act p.A2T UTP15_ENST00000543251.1_Intron|UTP15_ENST00000508491.1_Missense_Mutation_p.A2T NM_032175.2 NP_115551.2 Q8TED0 UTP15_HUMAN UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae) 2 rRNA processing cytoplasm|nucleolus endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2) 15 Lung NSC(167;0.00405)|Ovarian(174;0.0129) OV - Ovarian serous cystadenocarcinoma(47;7.76e-55) TGGAATTATGGCTGGTTATAA 0.348000 29 86 0 0 1 0 0 PXDN 7837 broad.mit.edu 37 2 1652934 1652934 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:1652934G>A ENST00000252804.4 - 17 2668 c.2618C>T c.(2617-2619)gCc>gTc p.A873V NM_012293.1 NP_036425.1 Q92626 PXDN_HUMAN peroxidasin homolog (Drosophila) 873 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 112 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) CATGCAGCGGGCCCCGCTCCT 0.647000 11 30 0 0 1 0 0 CNTRL 11064 broad.mit.edu 37 9 123850804 123850804 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:123850804A>G ENST00000373855.1 + 3 460 c.200A>G c.(199-201)gAc>gGc p.D67G CNTRL_ENST00000238341.5_Missense_Mutation_p.D67G|CNTRL_ENST00000373865.2_Missense_Mutation_p.D67G Q7Z7A1 CNTRL_HUMAN centriolin 67 cell division|G2/M transition of mitotic cell cycle centrosome|cytosol protein binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3) 20 ATGCTTTTGGACTATCAAGAC 0.378000 4 52 0 0 1 0 0 KIF13B 23303 broad.mit.edu 37 8 28980935 28980935 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:28980935C>T ENST00000524189.1 - 28 3465 c.3427G>A c.(3427-3429)Gcg>Acg p.A1143T CTD-2647L4.1_ENST00000523661.1_RNA NM_015254.3 NP_056069.2 Q9NQT8 KI13B_HUMAN kinesin family member 13B 1143 microtubule-based movement|protein targeting|signal transduction|T cell activation cytoplasm|microtubule ATP binding|microtubule motor activity|protein kinase binding p.A1143T(1) endometrium(6)|kidney(1)|lung(20)|urinary_tract(1) 28 Ovarian(32;0.000536) KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181) ACCATCACCGCGTTCCTCTCC 0.542000 81 116 0 0 1 0 0 ZSWIM5 57643 broad.mit.edu 37 1 45501439 45501439 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:45501439T>C ENST00000359600.5 - 10 2417 c.2212A>G c.(2212-2214)Acc>Gcc p.T738A NM_020883.1 NP_065934.1 Q9P217 ZSWM5_HUMAN zinc finger, SWIM-type containing 5 738 zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 28 Acute lymphoblastic leukemia(166;0.155) TTGGCAAAGGTATGCATGGGA 0.498000 14 43 0 0 1 0 0 PLCD3 113026 broad.mit.edu 37 17 43190029 43190029 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:43190029C>T ENST00000322765.5 - 16 2435 c.2322G>A c.(2320-2322)ctG>ctA p.L774L PLCD3_ENST00000540511.1_5'UTR NM_133373.3 NP_588614.1 Q8N3E9 PLCD3_HUMAN phospholipase C, delta 3 775 intracellular signal transduction|lipid catabolic process cleavage furrow|cytoplasm|membrane calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2) 17 Phosphatidylserine(DB00144) TGGCTGGTGACAGTGAGGCCC 0.642000 3 20 0 0 1 0 0 KRT37 8688 broad.mit.edu 37 17 39580518 39580518 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:39580518G>A ENST00000225550.3 - 1 257 c.258C>T c.(256-258)ccC>ccT p.P86P AC003958.2_ENST00000432258.1_RNA NM_003770.4 NP_003761.3 O76014 KRT37_HUMAN keratin 37 86 Head. intermediate filament structural molecule activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3) 25 Breast(137;0.000496) CGATGTTGCCGGGAATGTGAC 0.602000 21 80 0 0 1 0 0 FGA 2243 broad.mit.edu 37 4 155510012 155510012 + Missense_Mutation SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:155510012A>T ENST00000302053.3 - 3 375 c.297T>A c.(295-297)aaT>aaA p.N99K FGA_ENST00000403106.3_Missense_Mutation_p.N99K NM_000508.3 NP_000499.1 P02671 FIBA_HUMAN fibrinogen alpha chain 99 platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 73 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) GAGAATCCTTATTGTTCTTCT 0.318000 34 103 0 0 1 0 0 SLC24A2 25769 broad.mit.edu 37 9 19550199 19550199 + Missense_Mutation SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:19550199G>T ENST00000341998.2 - 7 1476 c.1415C>A c.(1414-1416)aCg>aAg p.T472K SLC24A2_ENST00000286344.3_Missense_Mutation_p.T455K NM_001193288.2|NM_020344.3 NP_001180217.1|NP_065077.1 Q9UI40 NCKX2_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 2 472 visual perception integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443) AATCAGAAACGTGACTTGCTT 0.438000 6 158 0.0215528 0.0216729 1 1 0 UTRN 7402 broad.mit.edu 37 6 144780131 144780131 + Nonsense_Mutation SNP T T A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:144780131T>A ENST00000367545.3 + 19 2510 c.2510T>A c.(2509-2511)tTg>tAg p.L837* NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin 837 Interaction with SYNM. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 148 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) TTGCCAAGCTTGAAGGATTCC 0.458000 4 88 0 0 1 0 0 MTMR10 54893 broad.mit.edu 37 15 31234076 31234076 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:31234076A>G ENST00000435680.1 - 16 2028 c.1931T>C c.(1930-1932)gTt>gCt p.V644A MTMR10_ENST00000314404.8_Intron|MTMR10_ENST00000425768.1_3'UTR|FAN1_ENST00000362065.4_3'UTR NM_017762.2 NP_060232.2 Q9NXD2 MTMRA_HUMAN myotubularin related protein 10 644 Myotubularin phosphatase. phosphatase activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1) 9 all_lung(180;2.81e-11) all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174) TGGCAGAATAACACCGTGCAG 0.517000 15 116 0 0 1 0 0 MTOR 2475 broad.mit.edu 37 1 11189816 11189816 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:11189816T>C ENST00000361445.4 - 40 5769 c.5693A>G c.(5692-5694)aAc>aGc p.N1898S MTOR_ENST00000376838.1_Missense_Mutation_p.N103S NM_004958.3 NP_004949.1 P42345 MTOR_HUMAN mechanistic target of rapamycin (serine/threonine kinase) 1898 FAT. cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 149 CTGGAGGTTGTTGCCTCGTGA 0.507000 7 45 0 0 1 0 0 CYP2A13 1553 broad.mit.edu 37 19 41594902 41594902 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:41594902A>G ENST00000330436.3 + 2 249 c.249A>G c.(247-249)ggA>ggG p.G83G NM_000766.4 NP_000757.2 Q16696 CP2AD_HUMAN cytochrome P450, family 2, subfamily A, polypeptide 13 83 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2) 42 Clomipramine(DB01242)|Nicotine(DB00184) TGCTGTGCGGACATGATGCCG 0.622000 11 100 0 0 1 0 0 TARSL2 123283 broad.mit.edu 37 15 102197157 102197157 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:102197157T>C ENST00000335968.3 - 18 2444 c.2228A>G c.(2227-2229)aAt>aGt p.N743S TARSL2_ENST00000559492.1_5'UTR NM_152334.2 NP_689547.2 A2RTX5 SYTC2_HUMAN threonyl-tRNA synthetase-like 2 743 threonyl-tRNA aminoacylation cytoplasm ATP binding|threonine-tRNA ligase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1) 29 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) CAGCTGTGCATTTCGTATTTT 0.308000 4 29 0 0 1 0 0 LTBP2 4053 broad.mit.edu 37 14 75018993 75018993 + Silent SNP C C G rs143214774 byFrequency TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:75018993C>G ENST00000261978.4 - 6 1682 c.1296G>C c.(1294-1296)ccG>ccC p.P432P LTBP2_ENST00000557425.1_Intron|CTD-2207P18.1_ENST00000554552.1_lincRNA|LTBP2_ENST00000556690.1_Silent_p.P432P NM_000428.2 NP_000419.1 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding protein 2 432 protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) TGTCCGGCTGCGGGATAGGCA 0.672000 28 66 0 0 1 0 0 ABCA13 154664 broad.mit.edu 37 7 48318628 48318628 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:48318628G>A ENST00000435803.1 + 18 7861 c.7837G>A c.(7837-7839)Gat>Aat p.D2613N NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 2613 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 ATCAAACTCTGATATTTTCAG 0.318000 5 37 0 0 1 0 0 FAM86DP 692099 broad.mit.edu 37 3 75477005 75477005 + RNA SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:75477005T>C ENST00000459803.1 - 0 433 NR_024241.1 AGGCCTGTGGTACCATGGGAG 0.587000 12 14 0 0 1 0 0 USP40 55230 broad.mit.edu 37 2 234402104 234402104 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:234402104A>G ENST00000251722.6 - 25 2998 c.2881T>C c.(2881-2883)Tgg>Cgg p.W961R USP40_ENST00000450966.1_Missense_Mutation_p.W973R|USP40_ENST00000409945.1_Missense_Mutation_p.W137R|USP40_ENST00000427112.2_Missense_Mutation_p.W961R Q9NVE5 UBP40_HUMAN ubiquitin specific peptidase 40 961 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 30 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539) Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646) ACTCTGCCCCAAGACGAAGTA 0.522000 6 27 0 0 1 0 0 ADCYAP1R1 117 broad.mit.edu 37 7 31126020 31126020 + Missense_Mutation SNP T T C rs141462042 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:31126020T>C ENST00000304166.4 + 10 981 c.692T>C c.(691-693)gTt>gCt p.V231A ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.V231A|ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.V210A|ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.V231A NM_001118.4|NM_001199635.1|NM_001199636.1 NP_001109.2|NP_001186564.1|NP_001186565.1 P41586 PACR_HUMAN adenylate cyclase activating polypeptide 1 (pituitary) receptor type I 231 activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis integral to plasma membrane vasoactive intestinal polypeptide receptor activity endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1) 35 GCCGTCATGGTTTTCTTCCAC 0.562000 13 33 0 0 1 0 0 DBX1 120237 broad.mit.edu 37 11 20178608 20178608 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:20178608G>A ENST00000524983.2 - 3 935 c.647C>T c.(646-648)gCc>gTc p.A216V DBX1_ENST00000227256.3_Missense_Mutation_p.A216V A6NMT0 DBX1_HUMAN developing brain homeobox 1 216 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2) 21 GCCCAGCTTGGCCGCCAGCTT 0.642000 7 67 0 0 1 0 0 ARHGEF19 128272 broad.mit.edu 37 1 16534495 16534495 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:16534495C>T ENST00000270747.3 - 3 774 c.638G>A c.(637-639)cGg>cAg p.R213Q ARHGEF19_ENST00000421561.1_Missense_Mutation_p.R213Q NM_153213.3 NP_694945.2 Q8IW93 ARHGJ_HUMAN Rho guanine nucleotide exchange factor (GEF) 19 213 regulation of actin cytoskeleton organization intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity p.R213Q(1) cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 12 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649) TGCTGAATTCCGCCCCAGGCG 0.672000 10 42 0 0 1 0 0 ITPR1 3708 broad.mit.edu 37 3 4856176 4856176 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:4856176T>C ENST00000302640.8 + 57 7936 c.7586T>C c.(7585-7587)gTc>gCc p.V2529A AC018816.3_ENST00000449914.1_Intron|ITPR1_ENST00000443694.2_Missense_Mutation_p.V2529A|ITPR1_ENST00000357086.4_Missense_Mutation_p.V2496A|ITPR1_ENST00000354582.6_Missense_Mutation_p.V2529A|AC018816.3_ENST00000489771.1_Intron|ITPR1_ENST00000544951.1_Missense_Mutation_p.V507A|ITPR1_ENST00000463980.1_3'UTR|AC018816.3_ENST00000441894.1_Intron|ITPR1_ENST00000456211.2_Missense_Mutation_p.V2481A|ITPR1_ENST00000423119.2_Missense_Mutation_p.V2496A NM_001168272.1 NP_001161744.1 Q14643 ITPR1_HUMAN inositol 1,4,5-trisphosphate receptor, type 1 2544 Interaction with ERP44 (By similarity). activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2) 106 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) ATGTGCATTGTCACTGTGCTG 0.537000 33 78 0 0 1 0 0 ZNF516 9658 broad.mit.edu 37 18 74091854 74091854 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr18:74091854G>A ENST00000443185.2 - 4 2533 c.2216C>T c.(2215-2217)tCg>tTg p.S739L ZNF516_ENST00000524431.2_5'UTR NM_014643.3 NP_055458.1 Q92618 ZN516_HUMAN zinc finger protein 516 739 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Prostate(75;0.0869)|Esophageal squamous(42;0.129) OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238) ATCCCGCGTCGACCTCGCACT 0.597000 8 42 0 0 1 0 0 YOD1 55432 broad.mit.edu 37 1 207222726 207222726 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:207222726G>A ENST00000367084.1 - 4 758 c.554C>T c.(553-555)tCc>tTc p.S185F YOD1_ENST00000315927.4_Missense_Mutation_p.S229F|YOD1_ENST00000391927.1_Missense_Mutation_p.S185F NM_001276320.1 NP_001263249.1 Q5VVQ6 OTU1_HUMAN YOD1 deubiquitinase 229 OTU. cellular amino acid metabolic process|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein K48-linked deubiquitination|protein K63-linked deubiquitination intracellular protein binding|ubiquitin-specific protease activity|zinc ion binding cervix(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(3) 11 Prostate(682;0.19) GTAAAACTTGGACAAAATCGA 0.388000 48 163 0 0 1 0 0 DDX60 55601 broad.mit.edu 37 4 169197209 169197209 + Missense_Mutation SNP T T A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:169197209T>A ENST00000393743.3 - 15 2393 c.2102A>T c.(2101-2103)tAt>tTt p.Y701F NM_017631.5 NP_060101.3 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 701 ATP binding|ATP-dependent helicase activity|RNA binding breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4) 63 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) AAATCCTAAATACTTAAGGCA 0.363000 21 64 0 0 1 0 0 TBC1D20 128637 broad.mit.edu 37 20 419433 419433 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:419433G>A ENST00000354200.4 - 8 1156 c.1009C>T c.(1009-1011)Cct>Tct p.P337S TBC1D20_ENST00000461188.1_5'UTR NM_144628.2 NP_653229.1 Q96BZ9 TBC20_HUMAN TBC1 domain family, member 20 337 interspecies interaction between organisms integral to membrane|intracellular Rab GTPase activator activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 12 all_epithelial(17;0.228)|Breast(17;0.231) ACCATATCAGGCCTCTGCTGG 0.537000 29 107 0 0 1 0 0 GPM6A 2823 broad.mit.edu 37 4 176594959 176594959 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:176594959C>T ENST00000280187.7 - 4 304 c.259G>A c.(259-261)Ggc>Agc p.G87S GPM6A_ENST00000393658.2_Missense_Mutation_p.G87S|GPM6A_ENST00000515090.1_Missense_Mutation_p.G80S|GPM6A_ENST00000506894.1_Missense_Mutation_p.G76S NM_005277.4 NP_005268.1 P51674 GPM6A_HUMAN glycoprotein M6A 87 cell surface|integral to membrane NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 33 Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388) GCTGCGATGCCGTAGATCACA 0.398000 6 40 0 0 1 0 0 LMTK2 22853 broad.mit.edu 37 7 97833441 97833441 + Missense_Mutation SNP G G A rs142965943 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:97833441G>A ENST00000297293.5 + 13 4719 c.4426G>A c.(4426-4428)Gcc>Acc p.A1476T NM_014916.3 NP_055731.2 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 1476 Missing (in Ref. 2; BAA83031). early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3) 59 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) CATCTCTCCCGCCAACATTGC 0.642000 29 105 0 0 1 0 0 MYO5A 4644 broad.mit.edu 37 15 52671835 52671835 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:52671835T>C ENST00000399231.3 - 18 2438 c.2195A>G c.(2194-2196)gAg>gGg p.E732G MYO5A_ENST00000553916.1_Missense_Mutation_p.E732G|MYO5A_ENST00000356338.6_Missense_Mutation_p.E732G|MYO5A_ENST00000399233.2_Missense_Mutation_p.E732G|MYO5A_ENST00000358212.6_Missense_Mutation_p.E732G NM_000259.3 NP_000250.3 Q9Y4I1 MYO5A_HUMAN myosin VA (heavy chain 12, myoxin) 732 Myosin head-like. actin filament-based movement|transport cytoplasm|growth cone|myosin complex|ruffle actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1) 57 all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196) TATCAGTTTCTCTAACACATT 0.433000 9 82 0 0 1 0 0 SRI 6717 broad.mit.edu 37 7 87840218 87840218 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:87840218C>T ENST00000265729.2 - 4 280 c.228G>A c.(226-228)cgG>cgA p.R76R SRI_ENST00000431660.1_Silent_p.R61R|SRI_ENST00000394641.3_Silent_p.R61R|SRI_ENST00000490437.1_Silent_p.R33R|SRI_ENST00000419179.1_Silent_p.R76R NM_003130.3 NP_003121.1 P30626 SORCN_HUMAN sorcin 76 EF-hand 2. heart development|intracellular sequestering of iron ion|muscle organ development|regulation of action potential|regulation of heart contraction|regulation of striated muscle contraction|signal transduction sarcoplasmic reticulum membrane calcium channel regulator activity|calcium ion binding|receptor binding large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 5 Esophageal squamous(14;0.00202) AAACCATAAGCCGGCAAGTCT 0.284000 4 41 0 0 1 0 0 DNAAF2 55172 broad.mit.edu 37 14 50092539 50092539 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:50092539T>C ENST00000298292.8 - 3 2315 c.2235A>G c.(2233-2235)caA>caG p.Q745Q DNAAF2_ENST00000406043.3_Silent_p.Q697Q NM_018139.2 NP_060609.2 Q9NVR5 KTU_HUMAN dynein, axonemal, assembly factor 2 745 axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility cytoplasm kidney(1)|lung(4) 5 TTGACTCAGGTTGCTGAGATT 0.318000 9 37 0 0 1 0 0 SMPD4 55627 broad.mit.edu 37 2 130913672 130913672 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:130913672G>A ENST00000409031.1 - 14 2490 c.1342C>T c.(1342-1344)Cgg>Tgg p.R448W SMPD4_ENST00000351288.6_Missense_Mutation_p.R419W|SMPD4_ENST00000452225.2_Missense_Mutation_p.R189W|SMPD4_ENST00000431183.2_Missense_Mutation_p.R346W|SMPD4_ENST00000426662.2_Missense_Mutation_p.R84W|SMPD4_ENST00000339679.7_Missense_Mutation_p.R306W|SMPD4_ENST00000443958.2_Missense_Mutation_p.R112W|SMPD4_ENST00000473720.1_5'UTR|SMPD4_ENST00000453750.1_Missense_Mutation_p.R197W NM_017951.4 NP_060421.2 Q9NXE4 NSMA3_HUMAN sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3) 409 sphingomyelin catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 Colorectal(110;0.1) Phosphatidylserine(DB00144) GGCGCGTACCGCCACGGCTGC 0.657000 22 56 0 0 1 0 0 MYO1F 4542 broad.mit.edu 37 19 8619427 8619427 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:8619427T>C ENST00000338257.8 - 4 527 c.260A>G c.(259-261)tAc>tGc p.Y87C NM_012335.3 NP_036467.2 O00160 MYO1F_HUMAN myosin IF 87 Myosin head-like. unconventional myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1) 42 CGTGAGGGCGTAGATGTGCGG 0.612000 7 212 0 0 1 0 0 COG8 84342 broad.mit.edu 37 16 69364834 69364834 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:69364834C>T ENST00000306875.4 - 5 1861 c.1747G>A c.(1747-1749)Gcc>Acc p.A583T NM_032382.4 NP_115758.3 Q96MW5 COG8_HUMAN component of oligomeric golgi complex 8 583 protein transport Golgi membrane|Golgi transport complex breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1) 9 GGCTCCTCGGCGGGAGGCTCT 0.721000 3 5 0 0 1 0 0 PCDHA1 56147 broad.mit.edu 37 5 140167344 140167344 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:140167344T>C ENST00000504120.2 + 1 1469 c.1469T>C c.(1468-1470)gTg>gCg p.V490A PCDHA1_ENST00000378133.3_Missense_Mutation_p.V490A|PCDHA1_ENST00000394633.3_Missense_Mutation_p.V490A NM_018900.2 NP_061723.1 breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3) 70 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AACGCGCTGGTGTCCTATTCG 0.657000 34 137 0 0 1 0 0 ZNF592 9640 broad.mit.edu 37 15 85327800 85327800 + Missense_Mutation SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:85327800C>A ENST00000299927.3 + 1 1916 c.1894C>A c.(1894-1896)Ctg>Atg p.L632M ZNF592_ENST00000560079.2_Missense_Mutation_p.L632M Q92610 ZN592_HUMAN zinc finger protein 592 632 cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(143;0.0587) CAAGTGCAGCCTGCTCCGGCA 0.592000 28 81 3.1745e-13 3.31178e-13 1 1 0 NPIPB4 440345 broad.mit.edu 37 16 21854862 21854862 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:21854862A>G ENST00000415645.2 - 4 429 c.390T>C c.(388-390)tcT>tcC p.S130S NPIPB4_ENST00000451409.1_5'UTR|NPIPB4_ENST00000539318.1_5'UTR|NPIPB4_ENST00000357370.5_Silent_p.S130S nuclear pore complex interacting protein family, member B4 CTCGAAAGGAAGAAACTCTTT 0.428000 28 243 0 0 1 0 0 LMAN1 3998 broad.mit.edu 37 18 57026334 57026334 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr18:57026334T>C ENST00000251047.5 - 1 860 c.143A>G c.(142-144)tAc>tGc p.Y48C NM_005570.3 NP_005561.1 P49257 LMAN1_HUMAN lectin, mannose-binding, 1 48 L-type lectin-like. blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane mannose binding|metal ion binding|unfolded protein binding breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 16 Colorectal(73;0.0946) Antihemophilic Factor(DB00025) GCTGTATTTGTACTCGAAACG 0.692000 5 150 0 0 1 0 0 POU5F1 5460 broad.mit.edu 37 6 31132543 31132543 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:31132543T>C ENST00000513407.1 - 3 1860 c.330A>G c.(328-330)tcA>tcG p.S110S POU5F1_ENST00000259915.8_Silent_p.S306S|POU5F1_ENST00000471529.2_Silent_p.S110S|POU5F1_ENST00000606567.1_Silent_p.S136S|POU5F1_ENST00000441888.3_Silent_p.S110S|POU5F1_ENST00000512818.1_Silent_p.S110S Q01860 PO5F1_HUMAN POU class 5 homeobox 1 306 anatomical structure morphogenesis|blastocyst development|BMP signaling pathway involved in heart induction|cardiac cell fate determination|cell fate commitment involved in formation of primary germ layers|mRNA transcription from RNA polymerase II promoter|negative regulation of gene silencing by miRNA|positive regulation of catenin import into nucleus|positive regulation of SMAD protein import into nucleus|positive regulation of transcription from RNA polymerase II promoter|regulation of asymmetric cell division|regulation of heart induction by regulation of canonical Wnt receptor signaling pathway|regulation of methylation-dependent chromatin silencing|response to wounding|somatic stem cell maintenance cytosol|nucleoplasm|transcription factor complex miRNA binding|sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding EWSR1/POU5F1(10) breast(1)|large_intestine(2)|lung(3)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 13 CTGGTCCCCCTGAGAAAGGAG 0.587000 T EWSR1 sarcoma 4 13 0 0 1 0 0 WNK2 65268 broad.mit.edu 37 9 96024279 96024279 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:96024279C>T ENST00000297954.4 + 12 3250 c.3250C>T c.(3250-3252)Ccc>Tcc p.P1084S WNK2_ENST00000395477.2_Missense_Mutation_p.P1084S|WNK2_ENST00000427277.2_Missense_Mutation_p.P696S|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000349097.3_Missense_Mutation_p.P696S|WNK2_ENST00000356055.3_5'UTR Q9Y3S1 WNK2_HUMAN WNK lysine deficient protein kinase 2 1084 intracellular protein kinase cascade ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2) 54 GCAGAGTGTGCCCACCCAGAC 0.687000 4 35 0 0 1 0 0 VPRBP 9730 broad.mit.edu 37 3 51457835 51457835 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:51457835A>G ENST00000335891.5 - 7 1251 c.1242T>C c.(1240-1242)ctT>ctC p.L414L Q9Y4B6 VPRBP_HUMAN Vpr (HIV-1) binding protein 863 interspecies interaction between organisms cytoplasm|nucleus protein binding breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875) CTGTTTCTCCAAGCCCTTTAG 0.502000 30 71 0 0 1 0 0 NOL11 25926 broad.mit.edu 37 17 65732044 65732044 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:65732044T>C ENST00000253247.4 + 9 1074 c.959T>C c.(958-960)aTg>aCg p.M320T NOL11_ENST00000535137.1_Missense_Mutation_p.M138T NM_015462.3 NP_056277.2 Q9H8H0 NOL11_HUMAN nucleolar protein 11 320 nucleolus haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1) 11 all_cancers(12;1.54e-10) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24) CATTTGTTTATGCTACATGGA 0.343000 11 43 0 0 1 0 0 BLM 641 broad.mit.edu 37 15 91303895 91303895 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:91303895G>A ENST00000355112.3 + 7 1410 c.1292G>A c.(1291-1293)aGg>aAg p.R431K BLM_ENST00000560509.1_Missense_Mutation_p.R431K NM_000057.2 NP_000048.1 P54132 BLM_HUMAN Bloom syndrome, RecQ helicase-like 431 double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray cytoplasm|lateral element|nuclear matrix|nucleolus|PML body ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(78;0.0875)|all_lung(78;0.109) Lung(145;0.189) TGGAGATACAGGCCTGATTCA 0.403000 """Mis, N, F""" """leukemia, lymphoma, skin squamous cell , other cancers""" Genes defective in diseases associated with sensitivity to DNA damaging agents Bloom syndrome 29 154 0 0 1 0 0 SYTL2 54843 broad.mit.edu 37 11 85445199 85445199 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:85445199C>T ENST00000316356.4 - 7 1737 c.1173G>A c.(1171-1173)tcG>tcA p.S391S SYTL2_ENST00000528231.1_Silent_p.S390S|SYTL2_ENST00000527523.1_Silent_p.S342S|SYTL2_ENST00000524452.1_Silent_p.S390S|SYTL2_ENST00000389960.4_Silent_p.S390S Q9HCH5 SYTL2_HUMAN synaptotagmin-like 2 390 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 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) GATGAAAAAGCGAAGGCTTTC 0.398000 43 76 0 0 1 0 0 DNAJC5G 285126 broad.mit.edu 37 2 27500629 27500629 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:27500629G>A ENST00000296097.3 + 4 539 c.121G>A c.(121-123)Gca>Aca p.A41T DNAJC5G_ENST00000402462.1_Missense_Mutation_p.A41T|DNAJC5G_ENST00000404433.1_Intron|DNAJC5G_ENST00000406962.1_Intron NM_173650.1 NP_775921.1 Q8N7S2 DNJ5G_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 5 gamma 41 J. protein folding membrane heat shock protein binding|unfolded protein binding cervix(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CAGCCATTCCGCATTGCTTCC 0.498000 37 129 0 0 1 0 0 ACBD5 91452 broad.mit.edu 37 10 27529294 27529294 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:27529294A>G ENST00000396271.3 - 2 261 c.135T>C c.(133-135)acT>acC p.T45T ACBD5_ENST00000476758.1_5'UTR|ACBD5_ENST00000375888.1_Silent_p.T43T|ACBD5_ENST00000375901.1_5'UTR|ACBD5_ENST00000375897.3_5'UTR|ACBD5_ENST00000375905.4_Silent_p.T10T NM_145698.3 NP_663736.2 Q5T8D3 ACBD5_HUMAN acyl-CoA binding domain containing 5 43 ACB. transport integral to membrane|peroxisomal membrane fatty-acyl-CoA binding breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1) 13 CCTCAAACCTAGTCTCGTGCA 0.632000 17 81 0 0 1 0 0 REEP3 221035 broad.mit.edu 37 10 65358936 65358936 + Missense_Mutation SNP G G C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:65358936G>C ENST00000373758.4 + 5 493 c.310G>C c.(310-312)Gat>Cat p.D104H REEP3_ENST00000298249.4_Missense_Mutation_p.D89H NM_001001330.2 NP_001001330.1 Q6NUK4 REEP3_HUMAN receptor accessory protein 3 104 integral to membrane endometrium(1)|large_intestine(2)|lung(3) 6 Prostate(12;0.0119)|all_hematologic(501;0.191) CCAGGAGATTGATGATTATAT 0.378000 15 48 0 0 1 0 0 ZHX2 22882 broad.mit.edu 37 8 123965010 123965010 + Silent SNP T T A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:123965010T>A ENST00000314393.4 + 3 2095 c.1260T>A c.(1258-1260)cgT>cgA p.R420R NM_014943.3 NP_055758.1 Q9Y6X8 ZHX2_HUMAN zinc fingers and homeoboxes 2 420 Required for interaction with NFYA.|Required for nuclear localization.|Required for repressor activity. cytoplasm|nucleus|plasma membrane protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1) 45 Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105) STAD - Stomach adenocarcinoma(47;0.00527) AACCCAAGCGTCCACACATCG 0.622000 21 64 0 0 1 0 0 NTAN1 123803 broad.mit.edu 37 16 15141945 15141945 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:15141945T>C ENST00000287706.3 - 2 185 c.93A>G c.(91-93)agA>agG p.R31R PDXDC1_ENST00000535621.2_Intron NM_173474.2 NP_775745.1 Q96AB6 NTAN1_HUMAN N-terminal asparagine amidase 31 cytoplasm endometrium(1)|large_intestine(4)|lung(3) 8 CTCTGAGAAGTCTGGCTCTTT 0.433000 8 138 0 0 1 0 0 UBR1 197131 broad.mit.edu 37 15 43340688 43340688 + Splice_Site SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:43340688A>G ENST00000290650.4 - 13 1519 c.1439_splice c.e13-1 p.Y481_splice UBR1_ENST00000382177.2_Splice_Site_p.Y481_splice NM_174916.2 NP_777576.1 Q8IWV7 UBR1_HUMAN ubiquitin protein ligase E3 component n-recognin 1 481 cellular response to leucine|negative regulation of TOR signaling cascade cytosol leucine binding|zinc ion binding NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 58 all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214) ATCAGGATATACCTATCGTTT 0.308000 13 22 0 0 1 0 0 GCNT2 2651 broad.mit.edu 37 6 10529936 10529936 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:10529936G>A ENST00000379597.3 + 1 1348 c.792G>A c.(790-792)acG>acA p.T264T GCNT2_ENST00000495262.1_Silent_p.T264T|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000410107.1_Intron Q8N0V5 GNT2A_HUMAN glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) 264 Golgi membrane|integral to membrane N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2) 12 Ovarian(93;0.107)|Breast(50;0.148) all_hematologic(90;0.107) KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119) ACTTTGGCACGGCCTACGTGG 0.473000 4 189 0 0 1 0 0 BBS10 79738 broad.mit.edu 37 12 76741421 76741421 + Missense_Mutation SNP G G C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:76741421G>C ENST00000393262.3 - 2 427 c.344C>G c.(343-345)aCc>aGc p.T115S NM_024685.3 NP_078961.3 Q8TAM1 BBS10_HUMAN Bardet-Biedl syndrome 10 115 cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis cilium ATP binding endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1) 19 CCTTCCATGGGTTTGAATGTT 0.383000 Bardet-Biedl syndrome 17 82 0 0 1 0 0 NOL8 55035 broad.mit.edu 37 9 95076818 95076818 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:95076818T>C ENST00000545558.1 - 7 2581 c.2089A>G c.(2089-2091)Agc>Ggc p.S697G NOL8_ENST00000535387.1_Missense_Mutation_p.S697G|NOL8_ENST00000442668.2_Missense_Mutation_p.S697G|NOL8_ENST00000358855.4_Missense_Mutation_p.S629G|NOL8_ENST00000542053.1_Missense_Mutation_p.S629G Q76FK4 NOL8_HUMAN nucleolar protein 8 697 DNA replication|positive regulation of cell growth nucleolus nucleotide binding|protein binding|RNA binding endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1) 16 CTATGGCAGCTGTCTTTGTCA 0.428000 6 24 0 0 1 0 0 CEP192 55125 broad.mit.edu 37 18 13087062 13087062 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr18:13087062G>A ENST00000506447.1 + 31 5743 c.5663G>A c.(5662-5664)gGc>gAc p.G1888D CEP192_ENST00000430049.2_Missense_Mutation_p.G1413D|CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000325971.8_Missense_Mutation_p.G1292D NM_032142.3 NP_115518.3 B7ZMF0 B7ZMF0_HUMAN centrosomal protein 192kDa 1483 NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 ATTTTGGAAGGCGTTAAAAAA 0.348000 14 63 0 0 1 0 0 PCDHB11 56125 broad.mit.edu 37 5 140580930 140580930 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:140580930A>G ENST00000354757.3 + 1 1583 c.1583A>G c.(1582-1584)gAc>gGc p.D528G PCDHB11_ENST00000536699.1_Missense_Mutation_p.D163G NM_018931.2 NP_061754.1 Q9Y5F2 PCDBB_HUMAN 528 Cadherin 5. D -> E (in dbSNP:rs799834). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CAGGCTTTCGACTTCCGCGTG 0.677000 25 243 0 0 1 0 0 CMTR2 55783 broad.mit.edu 37 16 71317818 71317818 + Missense_Mutation SNP A A C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:71317818A>C ENST00000338099.5 - 3 2342 c.2006T>G c.(2005-2007)aTc>aGc p.I669S FTSJD1_ENST00000434935.2_Missense_Mutation_p.I669S Q8IYT2 FTSJ1_HUMAN 669 integral to membrane methyltransferase activity|nucleic acid binding breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 AACAAAAGTGATGAATCTAAA 0.423000 4 158 0 0 1 0 0 YBEY 54059 broad.mit.edu 37 21 47711253 47711253 + Silent SNP G G C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr21:47711253G>C ENST00000329319.3 + 3 614 c.216G>C c.(214-216)ctG>ctC p.L72L YBEY_ENST00000397692.1_Intron|YBEY_ENST00000397694.1_Silent_p.L27L|YBEY_ENST00000339195.6_Intron|YBEY_ENST00000397701.4_Silent_p.L72L|YBEY_ENST00000397691.1_Silent_p.L72L NM_058181.1 NP_478061.1 P58557 YBEY_HUMAN ybeY metallopeptidase (putative) 72 metal ion binding|metalloendopeptidase activity endometrium(2)|large_intestine(1)|lung(4)|ovary(2) 9 TTTAGCATCTGAAAGCAGGTG 0.408000 12 53 0 0 1 0 0 OMD 4958 broad.mit.edu 37 9 95177629 95177629 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:95177629T>C ENST00000375550.4 - 3 1346 c.1071A>G c.(1069-1071)atA>atG p.I357M CENPP_ENST00000375587.3_Intron NM_005014.2 NP_005005.1 Q99983 OMD_HUMAN osteomodulin 357 cell adhesion proteinaceous extracellular matrix breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|skin(2) 16 AAATAGTGTGTATATGAGGGA 0.353000 T USP6 aneurysmal bone cysts 4 41 0 0 1 0 0 EHBP1 23301 broad.mit.edu 37 2 63206435 63206435 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:63206435C>T ENST00000263991.5 + 16 3160 c.2678C>T c.(2677-2679)gCa>gTa p.A893V EHBP1_ENST00000431489.1_Missense_Mutation_p.A858V|EHBP1_ENST00000405015.3_Missense_Mutation_p.A858V|EHBP1_ENST00000354487.3_Missense_Mutation_p.A858V|EHBP1_ENST00000496857.1_3'UTR|EHBP1_ENST00000405289.1_Missense_Mutation_p.A858V NM_015252.3 NP_056067.2 Q8NDI1 EHBP1_HUMAN EH domain binding protein 1 893 cytoplasm|membrane biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 47 Lung NSC(7;0.0951)|all_lung(7;0.169) LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189) GAAATGGCTGCAGAAAAGTTG 0.473000 15 56 0 0 1 0 0 WWP2 11060 broad.mit.edu 37 16 69874117 69874117 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:69874117G>A ENST00000359154.2 + 5 530 c.429G>A c.(427-429)ggG>ggA p.G143G WWP2_ENST00000356003.2_Silent_p.G143G|WWP2_ENST00000569174.1_Silent_p.G143G|WWP2_ENST00000448661.1_Silent_p.G143G|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000542271.1_Silent_p.G27G NM_001270454.1|NM_007014.4 NP_001257383.1|NP_008945.2 O00308 WWP2_HUMAN WW domain containing E3 ubiquitin protein ligase 2 143 entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus|ubiquitin ligase complex RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 TCCTGGACGGGCCAACTGTTG 0.592000 4 133 0 0 1 0 0 DRD2 1813 broad.mit.edu 37 11 113288779 113288779 + Missense_Mutation SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:113288779A>T ENST00000362072.3 - 3 709 c.365T>A c.(364-366)aTc>aAc p.I122N DRD2_ENST00000535984.1_5'UTR|DRD2_ENST00000544518.1_Missense_Mutation_p.I121N|DRD2_ENST00000542968.1_Missense_Mutation_p.I122N|DRD2_ENST00000355319.2_Missense_Mutation_p.I122N|DRD2_ENST00000538967.1_Missense_Mutation_p.I122N|DRD2_ENST00000346454.3_Missense_Mutation_p.I122N NM_000795.3 NP_000786.1 P14416 DRD2_HUMAN dopamine receptor D2 122 activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning integral to plasma membrane dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 39 all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494) BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624) CAAGTTCAGGATGCTCGCCGT 0.532000 16 61 0 0 1 0 0 STEAP2 261729 broad.mit.edu 37 7 89856305 89856305 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:89856305T>C ENST00000287908.3 + 3 906 c.513T>C c.(511-513)aaT>aaC p.N171N STEAP2_ENST00000394621.2_Silent_p.N171N|STEAP2_ENST00000394626.1_Silent_p.N171N|STEAP2_ENST00000394632.1_Silent_p.N171N|STEAP2_ENST00000394629.2_Silent_p.N171N|STEAP2_ENST00000394622.2_Silent_p.N171N|STEAP2_ENST00000402625.2_Silent_p.N171N NM_001244944.1|NM_152999.3 NP_001231873.1|NP_694544.2 Q8NFT2 STEA2_HUMAN STEAP family member 2, metalloreductase 171 electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1) 15 all_hematologic(106;0.112) GCAGCAACAATATTCAAGCGC 0.393000 19 94 0 0 1 0 0 SYNJ2 8871 broad.mit.edu 37 6 158492712 158492712 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:158492712G>A ENST00000355585.4 + 15 2094 c.2019G>A c.(2017-2019)caG>caA p.Q673Q SYNJ2_ENST00000367121.3_Silent_p.Q673Q|SYNJ2_ENST00000367122.2_Silent_p.Q673Q NM_001178088.1|NM_003898.3 NP_001171559.1|NP_003889.1 O15056 SYNJ2_HUMAN synaptojanin 2 673 nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05) TCCGCTTCCAGTTCCACAGCA 0.592000 42 87 0 0 1 0 0 ATP10B 23120 broad.mit.edu 37 5 160044886 160044886 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:160044886T>C ENST00000327245.5 - 16 3357 c.2511A>G c.(2509-2511)ctA>ctG p.L837L CTC-348L5.1_ENST00000523598.1_RNA NM_025153.2 NP_079429.2 O94823 AT10B_HUMAN ATPase, class V, type 10B 837 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1) 75 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TGGCAATGCATAGTGTGCGCA 0.418000 21 60 0 0 1 0 0 PITPNM3 83394 broad.mit.edu 37 17 6368022 6368022 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:6368022G>A ENST00000262483.8 - 15 2047 c.1960C>T c.(1960-1962)Cgg>Tgg p.R654W ACKR6_ENST00000421306.3_Missense_Mutation_p.R618W|ACKR6_ENST00000576664.1_5'UTR NM_031220.3 NP_112497.2 TACATGAACCGCCCCACCAGG 0.617000 17 38 0 0 1 0 0 ZNF439 90594 broad.mit.edu 37 19 11979202 11979202 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:11979202T>C ENST00000304030.2 + 3 1518 c.1318T>C c.(1318-1320)Tgt>Cgt p.C440R ZNF439_ENST00000455282.1_Missense_Mutation_p.C304R|ZNF439_ENST00000592534.1_Intron NM_152262.2 NP_689475.1 Q8NDP4 ZN439_HUMAN zinc finger protein 439 440 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2) 27 ACCGTATCAATGTAAGGAATG 0.438000 9 74 0 0 1 0 0 SLC26A8 116369 broad.mit.edu 37 6 35923102 35923102 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:35923102T>C ENST00000490799.1 - 17 2412 c.2059A>G c.(2059-2061)Aat>Gat p.N687D SLC26A8_ENST00000355574.2_Missense_Mutation_p.N687D|SLC26A8_ENST00000394602.2_Missense_Mutation_p.N582D NM_052961.3 NP_443193.1 Q96RN1 S26A8_HUMAN solute carrier family 26 (anion exchanger), member 8 687 Interaction with RACGAP1.|STAS. cell differentiation|meiosis|multicellular organismal development|spermatogenesis integral to membrane|plasma membrane anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 46 GATGAGTTATTAGGAAGCCAA 0.507000 21 71 0 0 1 0 0 MGAT1 4245 broad.mit.edu 37 5 180219668 180219668 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:180219668C>T ENST00000446023.2 - 3 1054 c.304G>A c.(304-306)Gcg>Acg p.A102T MGAT1_ENST00000393340.3_Missense_Mutation_p.A102T|MGAT1_ENST00000333055.3_Missense_Mutation_p.A102T|MGAT1_ENST00000427865.2_Missense_Mutation_p.A102T|MGAT1_ENST00000307826.4_Missense_Mutation_p.A102T NM_001114617.1|NM_001114618.1 NP_001108089.1|NP_001108090.1 P26572 MGAT1_HUMAN mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase 102 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1) 13 all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) ACCGCCGGCGCGGGGGTCACA 0.706000 4 20 0 0 1 0 0 EPHA10 284656 broad.mit.edu 37 1 38227230 38227230 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:38227230G>A ENST00000373048.4 - 3 696 c.697C>T c.(697-699)Ctg>Ttg p.L233L EPHA10_ENST00000319637.6_Silent_p.L233L|EPHA10_ENST00000427468.2_Silent_p.L233L NM_001099439.1 NP_001092909.1 Q5JZY3 EPHAA_HUMAN EPH receptor A10 233 extracellular region|integral to membrane|integral to plasma membrane ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) ACTTCCACCAGTGTGGAGAAG 0.711000 16 33 0 0 1 0 0 PYGB 5834 broad.mit.edu 37 20 25269070 25269070 + Missense_Mutation SNP G G C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:25269070G>C ENST00000216962.4 + 15 1888 c.1778G>C c.(1777-1779)aGa>aCa p.R593T NM_002862.3 NP_002853.2 P11216 PYGB_HUMAN phosphorylase, glycogen; brain 593 glucose metabolic process|glycogen catabolic process cytoplasm glycogen phosphorylase activity|pyridoxal phosphate binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 31 Pyridoxal Phosphate(DB00114) GGAATCAAGAGAGACCCGGCC 0.602000 35 127 0 0 1 0 0 NUP50 10762 broad.mit.edu 37 22 45574765 45574765 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr22:45574765C>T ENST00000347635.3 + 5 1453 c.987C>T c.(985-987)gaC>gaT p.D329D NUP50_ENST00000396096.2_Silent_p.D301D|NUP50_ENST00000407019.2_Silent_p.D301D|NUP50_ENST00000425733.2_Silent_p.D79D NM_007172.3 NP_009103.2 Q9UKX7 NUP50_HUMAN nucleoporin 50kDa 329 Ser-rich. carbohydrate metabolic process|glucose transport|intracellular transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore|nucleoplasm protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 9 Ovarian(80;0.00965)|all_neural(38;0.0244) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178) CAGAAGGTGACAGTGGTGAAT 0.443000 12 50 0 0 1 0 0 PPIB 5479 broad.mit.edu 37 15 64449054 64449054 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:64449054T>C ENST00000300026.3 - 4 616 c.398A>G c.(397-399)tAc>tGc p.Y133C SNX22_ENST00000325881.4_3'UTR|PPIB_ENST00000558492.1_5'UTR NM_000942.4 NP_000933.1 P23284 PPIB_HUMAN peptidylprolyl isomerase B (cyclophilin B) 133 PPIase cyclophilin-type. protein folding endoplasmic reticulum lumen|melanosome peptide binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding kidney(2)|large_intestine(2)|lung(6) 10 L-Proline(DB00172) GCCAGGCCCGTAGTGCTTCAG 0.557000 26 88 0 0 1 0 0 SERGEF 26297 broad.mit.edu 37 11 18010233 18010233 + Missense_Mutation SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:18010233G>T ENST00000265965.5 - 8 906 c.755C>A c.(754-756)cCt>cAt p.P252H SERGEF_ENST00000528200.1_Missense_Mutation_p.P252H|SERGEF_ENST00000532265.1_Missense_Mutation_p.P138H NM_012139.2 NP_036271.1 Q9UGK8 SRGEF_HUMAN secretion regulating guanine nucleotide exchange factor 252 negative regulation of protein secretion|signal transduction cytoplasm|nucleus protein binding|Ran guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(5)|lung(5) 12 CTGGGGCACAGGAAGGAAAGC 0.473000 20 56 8.10497e-08 8.33977e-08 1 1 0 TTC4 7268 broad.mit.edu 37 1 55203289 55203289 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:55203289A>G ENST00000371281.3 + 9 1100 c.1013A>G c.(1012-1014)tAc>tGc p.Y338C TTC4_ENST00000371284.5_3'UTR|MROH7_ENST00000414150.2_3'UTR NM_004623.4 NP_004614.3 O95801 TTC4_HUMAN tetratricopeptide repeat domain 4 338 binding breast(2)|endometrium(3)|kidney(1)|lung(2)|stomach(1) 9 GCAGAACTATACCGGGTGCCT 0.507000 4 27 0 0 1 0 0 GLDN 342035 broad.mit.edu 37 15 51696750 51696750 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:51696750A>G ENST00000335449.6 + 10 1511 c.1455A>G c.(1453-1455)acA>acG p.T485T GLDN_ENST00000396399.2_Silent_p.T361T NM_181789.2 NP_861454.2 Q6ZMI3 GLDN_HUMAN gliomedin 485 Olfactomedin-like. cell differentiation|nervous system development collagen|integral to membrane|plasma membrane central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 19 all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942) TCTATGTCACAGACACCAAAG 0.453000 29 124 0 0 1 0 0 NEUROG3 50674 broad.mit.edu 37 10 71332389 71332389 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:71332389T>C ENST00000242462.4 - 2 440 c.411A>G c.(409-411)caA>caG p.Q137Q NM_020999.3 NP_066279.2 Q9Y4Z2 NGN3_HUMAN neurogenin 3 137 central nervous system development|endocrine pancreas development|peripheral nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity nucleus transcription coactivator activity endometrium(4)|large_intestine(2)|lung(6)|prostate(1) 13 TGCGCAGCGTTTGAGTCAGCG 0.692000 19 62 0 0 1 0 0 PCDH10 57575 broad.mit.edu 37 4 134073690 134073690 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:134073690C>T ENST00000264360.4 + 1 3221 c.2395C>T c.(2395-2397)Ccg>Tcg p.P799S NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 799 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) ACCCAGTAACCCGGCCCAGGT 0.602000 3 39 0 0 1 0 0 POU6F1 5463 broad.mit.edu 37 12 51585438 51585438 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:51585438C>T ENST00000389243.4 - 10 1440 c.501G>A c.(499-501)caG>caA p.Q167Q POU6F1_ENST00000550824.1_Silent_p.Q167Q|POU6F1_ENST00000333640.10_Silent_p.Q167Q Q14863 PO6F1_HUMAN POU class 6 homeobox 1 167 POU-specific. brain development|heart development|muscle organ development nucleus sequence-specific DNA binding transcription factor activity breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1) 11 CCTGACCCACCTGGGTCTGTG 0.572000 27 141 0 0 1 0 0 ZNF761 388561 broad.mit.edu 37 19 53958826 53958826 + RNA SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:53958826G>A ENST00000454407.1 + 0 1518 Q86XN6 ZN761_HUMAN zinc finger protein 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(134;0.00786) AACCTTACAAGTGTAATGAGT 0.418000 9 279 0 0 1 0 0 CPSF2 53981 broad.mit.edu 37 14 92600662 92600662 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:92600662A>G ENST00000298875.4 + 5 663 c.378A>G c.(376-378)atA>atG p.I126M NM_017437.2 NP_059133.1 Q9P2I0 CPSF2_HUMAN cleavage and polyadenylation specific factor 2, 100kDa 126 histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex hydrolase activity|protein binding|RNA binding breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 24 all_cancers(154;0.0766) COAD - Colon adenocarcinoma(157;0.222) TTGATAAAATACAGCAGCTAA 0.323000 3 25 0 0 1 0 0 A1CF 29974 broad.mit.edu 37 10 52566593 52566593 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:52566593T>C ENST00000395489.2 - 15 2056 c.1660A>G c.(1660-1662)Aag>Gag p.K554E A1CF_ENST00000373997.3_Missense_Mutation_p.K553E|A1CF_ENST00000374001.1_Missense_Mutation_p.K553E|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000282641.2_Missense_Mutation_p.K561E|A1CF_ENST00000395495.1_Missense_Mutation_p.K506E|A1CF_ENST00000373993.1_Missense_Mutation_p.K561E|A1CF_ENST00000373995.3_Missense_Mutation_p.K561E NM_001198819.1 NP_001185748.1 Q9NQ94 A1CF_HUMAN APOBEC1 complementation factor 561 cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3) 29 ACCGCTTGCTTGAGCTGGGCT 0.498000 33 95 0 0 1 0 0 MASP1 5648 broad.mit.edu 37 3 186944294 186944294 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:186944294C>T ENST00000337774.5 - 12 1845 c.1456G>A c.(1456-1458)Gtg>Atg p.V486M NM_001879.5 NP_001870.3 P48740 MASP1_HUMAN mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) 486 Peptidase S1. complement activation, lectin pathway|negative regulation of complement activation|proteolysis extracellular space calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 60 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.49e-18) GBM - Glioblastoma multiforme(93;0.0366) GCGGCGGTCACGATCCAGCTG 0.567000 3 14 0 0 1 0 0 WNT5B 81029 broad.mit.edu 37 12 1741947 1741947 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:1741947C>T ENST00000397196.2 + 3 436 c.204C>T c.(202-204)caC>caT p.H68H WNT5B_ENST00000310594.3_Silent_p.H68H|WNT5B_ENST00000537031.1_Silent_p.H68H|WNT5B_ENST00000542408.1_Silent_p.H68H NM_032642.2 NP_116031.1 Q9H1J7 WNT5B_HUMAN wingless-type MMTV integration site family, member 5B 68 angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix frizzled-2 binding skin(1) 1 Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.00109) ACCAGGAGCACATGGCCTACA 0.602000 35 168 0 0 1 0 0 SMPD4 55627 broad.mit.edu 37 2 130925042 130925042 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:130925042T>C ENST00000409031.1 - 9 2046 c.898A>G c.(898-900)Act>Gct p.T300A SMPD4_ENST00000351288.6_Missense_Mutation_p.T300A|SMPD4_ENST00000452225.2_Silent_p.K13K|SMPD4_ENST00000431183.2_Missense_Mutation_p.T227A|SMPD4_ENST00000426662.2_Silent_p.K13K|SMPD4_ENST00000339679.7_Missense_Mutation_p.T187A|SMPD4_ENST00000443958.2_5'UTR|SMPD4_ENST00000473720.1_5'UTR|SMPD4_ENST00000453750.1_Intron NM_017951.4 NP_060421.2 Q9NXE4 NSMA3_HUMAN sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3) 261 sphingomyelin catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 Colorectal(110;0.1) Phosphatidylserine(DB00144) TGGAGCAGAGTTTCTGACCTC 0.552000 23 72 0 0 1 0 0 MEF2C 4208 broad.mit.edu 37 5 88100458 88100458 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:88100458T>C ENST00000504921.2 - 3 887 c.215A>G c.(214-216)tAc>tGc p.Y72C MEF2C_ENST00000539796.1_Missense_Mutation_p.Y72C|MEF2C_ENST00000506554.1_Missense_Mutation_p.Y72C|MEF2C_ENST00000340208.5_Missense_Mutation_p.Y72C|MEF2C_ENST00000508569.1_Missense_Mutation_p.Y72C|MEF2C_ENST00000514015.1_Missense_Mutation_p.Y72C|MEF2C_ENST00000514028.1_Missense_Mutation_p.Y72C|MEF2C_ENST00000510942.1_Missense_Mutation_p.Y72C|MEF2C_ENST00000437473.2_Missense_Mutation_p.Y72C|MEF2C_ENST00000424173.2_Missense_Mutation_p.Y72C Q06413 MEF2C_HUMAN myocyte enhancer factor 2C 72 apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|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 nuclear speck activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 40 all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1) OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25) CGGCTCGTTGTACTCCGTGTA 0.547000 HNSCC(66;0.2) 15 48 0 0 1 0 0 MAPK7 5598 broad.mit.edu 37 17 19284283 19284283 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:19284283A>G ENST00000308406.5 + 4 1147 c.761A>G c.(760-762)gAg>gGg p.E254G MAPK7_ENST00000395602.4_Missense_Mutation_p.E254G|MAPK7_ENST00000299612.7_Missense_Mutation_p.E115G|MAPK7_ENST00000395604.3_Missense_Mutation_p.E254G|MAPK7_ENST00000571657.1_Intron NM_139033.2 NP_620602.2 Q13164 MK07_HUMAN mitogen-activated protein kinase 7 254 Necessary for oligomerization (By similarity).|Protein kinase. cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|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 activity|protein binding autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 30 all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206) ATCTTTGGTGAGATGCTGGCC 0.562000 13 43 0 0 1 0 0 ZNF28 7576 broad.mit.edu 37 19 53303779 53303779 + Missense_Mutation SNP T T G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:53303779T>G ENST00000438150.2 - 2 2053 c.1160A>C c.(1159-1161)aAg>aCg p.K387T ZNF28_ENST00000457749.2_Missense_Mutation_p.K440T|ZNF28_ENST00000360272.4_Missense_Mutation_p.K387T|ZNF28_ENST00000414252.2_Missense_Mutation_p.K387T P17035 ZNF28_HUMAN zinc finger protein 28 440 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145) TTCATTACACTTGTAAGGCTT 0.373000 13 160 0 0 1 0 0 FRS3 10817 broad.mit.edu 37 6 41738916 41738916 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:41738916G>A ENST00000373018.3 - 7 1171 c.920C>T c.(919-921)cCg>cTg p.P307L FRS3_ENST00000259748.2_Missense_Mutation_p.P307L NM_006653.3 NP_006644.1 O43559 FRS3_HUMAN fibroblast growth factor receptor substrate 3 307 fibroblast growth factor receptor signaling pathway plasma membrane fibroblast growth factor receptor binding|insulin receptor binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) ATTCCAGCCCGGCTCCTCTGG 0.687000 22 40 0 0 1 0 0 CDKN2C 1031 broad.mit.edu 37 1 51439640 51439640 + Missense_Mutation SNP A A G rs139629762 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:51439640A>G ENST00000262662.1 + 4 2239 c.205A>G c.(205-207)Act>Gct p.T69A CDKN2C_ENST00000396148.1_Missense_Mutation_p.T69A|CDKN2C_ENST00000371761.3_Missense_Mutation_p.T69A P42773 CDN2C_HUMAN cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4) 69 cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|protein kinase binding p.0?(11)|p.?(1) central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|thyroid(1) 23 GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151) GAAAGACCGAACTGGTTTCGC 0.443000 D """glioma, MM""" 24 52 0 0 1 0 0 MSH2 4436 broad.mit.edu 37 2 47635647 47635647 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:47635647G>A ENST00000406134.1 + 2 381 c.319G>A c.(319-321)Gct>Act p.A107T MSH2_ENST00000543555.1_Missense_Mutation_p.A41T|MSH2_ENST00000233146.2_Missense_Mutation_p.A107T P43246 MSH2_HUMAN mutS homolog 2 107 B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes MutSalpha complex|MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding p.0?(2)|p.?(1) NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1) 112 all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) TAAGAATAGAGCTGGAAATAA 0.289000 """D, Mis, N, F, S""" """colorectal, endometrial, ovarian""" """colorectal, endometrial, ovarian""" Mismatch excision repair (MMR) Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 24 59 0 0 1 0 0 KIAA1549L 25758 broad.mit.edu 37 11 33565125 33565125 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:33565125G>A ENST00000321505.4 + 1 1305 c.1125G>A c.(1123-1125)tcG>tcA p.S375S KIAA1549L_ENST00000265654.5_Silent_p.S375S|KIAA1549L_ENST00000389726.3_Silent_p.S375S KIAA1549-like TGAGAGCATCGCCCTCCTCCA 0.483000 OREG0020868 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 50 0 0 1 0 0 MYO5A 4644 broad.mit.edu 37 15 52684237 52684237 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:52684237T>C ENST00000399231.3 - 12 1675 c.1432A>G c.(1432-1434)Atg>Gtg p.M478V MYO5A_ENST00000553916.1_Missense_Mutation_p.M478V|MYO5A_ENST00000356338.6_Missense_Mutation_p.M478V|MYO5A_ENST00000399233.2_Missense_Mutation_p.M478V|MYO5A_ENST00000358212.6_Missense_Mutation_p.M478V NM_000259.3 NP_000250.3 Q9Y4I1 MYO5A_HUMAN myosin VA (heavy chain 12, myoxin) 478 Myosin head-like. actin filament-based movement|transport cytoplasm|growth cone|myosin complex|ruffle actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1) 57 all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196) TGTTCCTTCATATATTCTTCT 0.313000 6 32 0 0 1 0 0 SEC61A2 55176 broad.mit.edu 37 10 12197792 12197792 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:12197792T>C ENST00000379033.3 + 6 559 c.412T>C c.(412-414)Ttg>Ctg p.L138L SEC61A2_ENST00000298428.9_Silent_p.L160L|SEC61A2_ENST00000304267.8_Silent_p.L160L|SEC61A2_ENST00000379020.4_Silent_p.L160L|SEC61A2_ENST00000495368.1_3'UTR NM_001142628.1 NP_001136100.1 Q9H9S3 S61A2_HUMAN Sec61 alpha 2 subunit (S. cerevisiae) 160 endoplasmic reticulum membrane|integral to membrane P-P-bond-hydrolysis-driven protein transmembrane transporter activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Renal(717;0.228) TGTTGCTGGTTTGATTGTGCT 0.468000 55 445 0 0 1 0 0 HSPG2 3339 broad.mit.edu 37 1 22183543 22183543 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:22183543G>A ENST00000374695.3 - 44 5619 c.5540C>T c.(5539-5541)gCc>gTc p.A1847V NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 1847 Ig-like C2-type 3. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) CTGGTCCATGGCAAACATGTT 0.562000 6 170 0 0 1 0 0 VWA8 23078 broad.mit.edu 37 13 42440146 42440146 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr13:42440146A>G ENST00000379310.3 - 11 1307 c.1239T>C c.(1237-1239)agT>agC p.S413S VWA8_ENST00000281496.6_Silent_p.S413S NM_015058.1 NP_055873.1 von Willebrand factor A domain containing 8 CACAAGGTTGACTTAATAGCC 0.443000 7 120 0 0 1 0 0 ATXN7 6314 broad.mit.edu 37 3 63981379 63981379 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:63981379A>G ENST00000398590.3 + 12 2434 c.1881A>G c.(1879-1881)gcA>gcG p.A627A ATXN7_ENST00000295900.6_Silent_p.A627A|ATXN7_ENST00000487717.1_Silent_p.A627A|ATXN7_ENST00000484332.1_Silent_p.A482A|ATXN7_ENST00000538065.1_Silent_p.A627A NM_001177387.1 NP_001170858.1 O15265 ATX7_HUMAN ataxin 7 627 cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nuclear matrix|nucleolus protein binding|zinc ion binding NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3) 35 Prostate(884;0.0181) BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305) CACTAAATGCACAGCCTGCTG 0.547000 49 143 0 0 1 0 0 BLVRA 644 broad.mit.edu 37 7 43827605 43827605 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:43827605C>T ENST00000402924.1 + 4 278 c.115C>T c.(115-117)Ctg>Ttg p.L39L BLVRA_ENST00000265523.4_Silent_p.L39L NM_001253823.1 NP_001240752.1 P53004 BIEA_HUMAN biliverdin reductase A 39 heme catabolic process cytosol biliverdin reductase activity|zinc ion binding endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2) 12 NADH(DB00157) GTTCCTGAACCTGATTGGCTT 0.552000 43 138 0 0 1 0 0 PPAN-P2RY11 692312 broad.mit.edu 37 19 10220380 10220380 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:10220380A>G ENST00000428358.1 + 6 759 c.587A>G c.(586-588)cAc>cGc p.H196R PPAN_ENST00000393793.1_Missense_Mutation_p.H143R|PPAN_ENST00000556468.1_Missense_Mutation_p.H196R|PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.H196R|PPAN_ENST00000253107.7_Missense_Mutation_p.H196R NM_001040664.2|NM_001198690.1 NP_001035754.1|NP_001185619.1 Q9NQ55 SSF1_HUMAN 196 Brix. RNA splicing nucleolus protein binding breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 31 OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05) GACTTCCGCCACTAGTGAGTG 0.607000 52 204 0 0 1 0 0 LRRC16B 90668 broad.mit.edu 37 14 24524815 24524815 + Missense_Mutation SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:24524815G>T ENST00000342740.5 + 9 823 c.669G>T c.(667-669)aaG>aaT p.K223N LRRC16B_ENST00000334420.7_5'UTR NM_138360.3 NP_612369.3 Q8ND23 LR16B_HUMAN leucine rich repeat containing 16B 223 breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 52 GBM - Glioblastoma multiforme(265;0.019) TCTACTGCAAGGACTTGCGGC 0.597000 37 116 7.04047e-22 7.4361e-22 1 1 0 OR2H2 7932 broad.mit.edu 37 6 29556088 29556088 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:29556088G>A ENST00000383640.2 + 1 406 c.367G>A c.(367-369)Gct>Act p.A123T GABBR1_ENST00000355973.3_Intron NM_007160.3 NP_009091.3 O95918 OR2H2_HUMAN olfactory receptor, family 2, subfamily H, member 2 123 defense response|mating|sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1) 14 TCGCTACGTGGCTGTCTGCCA 0.577000 33 105 0 0 1 0 0 KSR2 283455 broad.mit.edu 37 12 118199073 118199073 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:118199073C>T ENST00000425217.1 - 4 696 c.642G>A c.(640-642)tcG>tcA p.S214S KSR2_ENST00000339824.5_Silent_p.S243S NM_173598.4 NP_775869.3 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 243 Pro-rich. intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) AACGGTGGCCCGACTCCAGTG 0.751000 39 80 0 0 1 0 0 MAN2B2 23324 broad.mit.edu 37 4 6612992 6612992 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:6612992C>T ENST00000285599.3 + 15 2586 c.2550C>T c.(2548-2550)ttC>ttT p.F850F MAN2B2_ENST00000504248.1_Silent_p.F799F NM_015274.1 NP_056089.1 Q9Y2E5 MA2B2_HUMAN mannosidase, alpha, class 2B, member 2 850 mannose metabolic process extracellular region alpha-mannosidase activity|carbohydrate binding|zinc ion binding breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1) 30 TGGTGCTGTTCGGAGACCTCG 0.657000 9 42 0 0 1 0 0 OR9I1 219954 broad.mit.edu 37 11 57886446 57886446 + Silent SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:57886446G>T ENST00000302610.1 - 1 470 c.471C>A c.(469-471)atC>atA p.I157I OR9Q1_ENST00000335397.3_Intron NM_001005211.1 NP_001005211.1 Q8NGQ6 OR9I1_HUMAN olfactory receptor, family 9, subfamily I, member 1 157 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1) 23 Breast(21;0.0589) TGGTACGCAGGATGGCTCCTG 0.552000 7 73 0.000157383 0.00015972 1 1 0 ACBD4 79777 broad.mit.edu 37 17 43220866 43220866 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:43220866G>A ENST00000431281.1 + 12 1353 c.884G>A c.(883-885)cGc>cAc p.R295H ACBD4_ENST00000592162.1_Missense_Mutation_p.A236T|ACBD4_ENST00000591859.1_Missense_Mutation_p.R295H|ACBD4_ENST00000398322.3_Silent_p.A282A|ACBD4_ENST00000586346.1_Missense_Mutation_p.R295H|ACBD4_ENST00000321854.8_Silent_p.A282A NM_001135704.1 NP_001129176.1 Q8NC06 ACBD4_HUMAN acyl-CoA binding domain containing 4 0 fatty-acyl-CoA binding kidney(1)|lung(3)|ovary(1) 5 CGGGGCCCGCGCTGCTCTTCT 0.657000 20 53 0 0 1 0 0 GFI1 2672 broad.mit.edu 37 1 92946223 92946223 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:92946223A>G ENST00000370332.1 - 4 1039 c.721T>C c.(721-723)Tcg>Ccg p.S241P GFI1_ENST00000427103.1_Missense_Mutation_p.S241P|GFI1_ENST00000294702.5_Missense_Mutation_p.S241P NM_001127215.1 NP_001120687.1 Q99684 GFI1_HUMAN growth factor independent 1 transcription repressor 241 negative regulation of calcidiol 1-monooxygenase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1/S phase of mitotic cell cycle|transcription, DNA-dependent|viral reproduction nucleus protein binding|transcription regulatory region DNA binding|zinc ion binding autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 15 all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203) OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191) AGCAGCTCCGACTCCACCTTG 0.692000 3 11 0 0 1 0 0 UTP23 84294 broad.mit.edu 37 8 117861266 117861266 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:117861266A>G ENST00000520733.1 + 2 317 c.185A>G c.(184-186)cAt>cGt p.H62R UTP23_ENST00000517820.1_3'UTR|RAD21_ENST00000297338.2_Silent_p.D541D|RAD21_ENST00000523986.1_Silent_p.D45D|RAD21_ENST00000517749.1_5'UTR|RAD21_ENST00000518055.1_Silent_p.D86D Q9BRU9 UTP23_HUMAN UTP23, small subunit (SSU) processome component, homolog (yeast) 0 rRNA processing nucleolus breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1) 12 ATGCATCTTCATCCTGAATAA 0.408000 40 168 0 0 1 0 0 FBXO25 26260 broad.mit.edu 37 8 363094 363094 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:363094T>C ENST00000276326.5 + 2 134 c.15T>C c.(13-15)ggT>ggC p.G5G FBXO25_ENST00000352684.2_5'UTR|FBXO25_ENST00000350302.3_Silent_p.G5G|FBXO25_ENST00000382824.1_5'UTR NM_183421.1 NP_904357.1 Q8TCJ0 FBX25_HUMAN F-box protein 25 5 Interaction with beta-actin. nucleus|SCF ubiquitin ligase complex actin binding|ubiquitin-protein ligase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1) 10 Ovarian(12;0.00965)|Colorectal(14;0.0815)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122) Epithelial(5;3.14e-14)|OV - Ovarian serous cystadenocarcinoma(5;1.56e-07)|BRCA - Breast invasive adenocarcinoma(11;1.88e-06) CATTTTTGGGTCAGGACTGGA 0.318000 20 92 0 0 1 0 0 CHRAC1 54108 broad.mit.edu 37 8 141525311 141525311 + Missense_Mutation SNP G G C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:141525311G>C ENST00000220913.5 + 3 563 c.361G>C c.(361-363)Gat>Cat p.D121H CHRAC1_ENST00000519533.1_3'UTR NM_017444.5 NP_059140.1 Q9NRG0 CHRC1_HUMAN chromatin accessibility complex 1 121 chromatin remodeling chromatin accessibility complex|epsilon DNA polymerase complex DNA-directed DNA polymerase activity|sequence-specific DNA binding ovary(2) 2 all_cancers(97;5.52e-16)|all_epithelial(106;1.22e-13)|Lung NSC(106;4.09e-06)|all_lung(105;6e-06)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.107) GAATGACAATGATAATGAAAG 0.383000 42 91 0 0 1 0 0 HERC1 8925 broad.mit.edu 37 15 63904622 63904622 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:63904622C>T ENST00000443617.2 - 77 14315 c.14228G>A c.(14227-14229)cGg>cAg p.R4743Q NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 4743 HECT. protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 CTCACGGTACCGCACCACTTT 0.552000 12 85 0 0 1 0 0 ATP2A1 487 broad.mit.edu 37 16 28890060 28890060 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:28890060G>A ENST00000395503.4 + 1 252 c.68G>A c.(67-69)gGc>gAc p.G23D ATP2A1_ENST00000357084.3_Missense_Mutation_p.G23D NM_004320.4 NP_004311.1 O14983 AT2A1_HUMAN ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 23 apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2) 38 GAGACCACGGGCCTCACCCCG 0.582000 8 30 0 0 1 0 0 ST6GAL1 6480 broad.mit.edu 37 3 186761056 186761056 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:186761056T>C ENST00000169298.3 + 4 1239 c.565T>C c.(565-567)Tca>Cca p.S189P ST6GAL1_ENST00000448044.1_Missense_Mutation_p.S189P|ST6GAL1_ENST00000457772.2_Intron NM_173216.2 NP_775323.1 P15907 SIAT1_HUMAN ST6 beta-galactosamide alpha-2,6-sialyltranferase 1 189 humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine extracellular region|Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 7 all_cancers(143;2.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;8.53e-19) GBM - Glioblastoma multiforme(93;0.0939) TGTTGTGTCGTCAGCGGGATC 0.522000 33 142 0 0 1 0 0 SNX29 92017 broad.mit.edu 37 16 12662375 12662375 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:12662375G>A ENST00000566228.1 + 21 2400 c.2331G>A c.(2329-2331)ccG>ccA p.P777P CTD-3037G24.3_ENST00000564505.1_RNA|SNX29_ENST00000306030.3_Silent_p.P392P NM_032167.3 NP_115543.3 Q8TEQ0 SNX29_HUMAN sorting nexin 29 392 cell communication phosphatidylinositol binding endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 7 ACATCACCCCGCCCGGAGAGC 0.637000 25 62 0 0 1 0 0 SLC41A3 54946 broad.mit.edu 37 3 125741708 125741708 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:125741708C>T ENST00000383598.2 - 5 873 c.588G>A c.(586-588)acG>acA p.T196T SLC41A3_ENST00000508835.1_Silent_p.T105T|SLC41A3_ENST00000360370.4_Silent_p.T222T|SLC41A3_ENST00000346785.5_Silent_p.T186T|SLC41A3_ENST00000315891.6_Silent_p.T222T NM_001008487.1 NP_001008487.1 Q96GZ6 S41A3_HUMAN solute carrier family 41, member 3 222 integral to membrane|plasma membrane cation transmembrane transporter activity breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 GBM - Glioblastoma multiforme(114;0.167) CTGCAATGGGCGTGGCAATGT 0.507000 74 188 0 0 1 0 0 SRRM4 84530 broad.mit.edu 37 12 119594436 119594436 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:119594436C>T ENST00000267260.4 + 13 2057 c.1669C>T c.(1669-1671)Cgg>Tgg p.R557W NM_194286.3 NP_919262.2 A7MD48 SRRM4_HUMAN serine/arginine repetitive matrix 4 557 Arg-rich.|Ser-rich. cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing nucleus mRNA binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 24 gagtcggagccggagccggag 0.731000 10 16 0 0 1 0 0 ITGAD 3681 broad.mit.edu 37 16 31435825 31435825 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:31435825C>T ENST00000389202.2 + 29 3348 c.3299C>T c.(3298-3300)gCc>gTc p.A1100V NM_005353.2 NP_005344.2 Q13349 ITAD_HUMAN integrin, alpha D 1100 cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 GTCTACAATGCCATTCCCATC 0.512000 27 85 0 0 1 0 0 LHX9 56956 broad.mit.edu 37 1 197896780 197896780 + Nonsense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:197896780C>T ENST00000367390.3 + 5 793 c.766C>T c.(766-768)Cag>Tag p.Q256* LHX9_ENST00000367391.1_Nonsense_Mutation_p.Q256*|LHX9_ENST00000337020.2_Nonsense_Mutation_p.Q265*|LHX9_ENST00000561173.1_Nonsense_Mutation_p.Q271*|LHX9_ENST00000367387.4_Nonsense_Mutation_p.Q265* NM_001014434.1 NP_001014434.1 Q9NQ69 LHX9_HUMAN LIM homeobox 9 265 motor axon guidance|negative regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1) 35 TCCACCCTCGCAGAAGACCAA 0.512000 7 402 0 0 1 0 0 CANX 821 broad.mit.edu 37 5 179132782 179132782 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:179132782G>A ENST00000247461.4 + 2 300 c.100G>A c.(100-102)Gac>Aac p.D34N CANX_ENST00000415618.2_Missense_Mutation_p.D69N|CANX_ENST00000452673.2_Missense_Mutation_p.D34N|CANX_ENST00000512607.2_5'UTR|CANX_ENST00000504734.1_Missense_Mutation_p.D34N NM_001746.3 NP_001737.1 P27824 CALX_HUMAN calnexin 34 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome calcium ion binding|sugar binding|unfolded protein binding breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3) 22 all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218) all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031) tattgaggatgaccttgacga 0.428000 77 245 0 0 1 0 0 TLN1 7094 broad.mit.edu 37 9 35720085 35720085 + Missense_Mutation SNP T T C rs144393265 byFrequency TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:35720085T>C ENST00000314888.9 - 13 1768 c.1415A>G c.(1414-1416)cAg>cGg p.Q472R TLN1_ENST00000540444.1_Missense_Mutation_p.Q472R NM_006289.3 NP_006280.3 Q9Y490 TLN1_HUMAN talin 1 472 axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6) 85 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) AATCTGCTGCTGGGCAGGGGG 0.627000 27 68 0 0 1 0 0 ARHGAP32 9743 broad.mit.edu 37 11 128838881 128838881 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:128838881G>A ENST00000310343.9 - 22 6184 c.6185C>T c.(6184-6186)gCt>gTt p.A2062V ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.A1713V|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.A1713V NM_001142685.1 NP_001136157.1 A7KAX9 RHG32_HUMAN Rho GTPase activating protein 32 2062 Interaction with FYN. cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3) 60 CAACGCTGTAGCATAGGTCCT 0.592000 3 24 0 0 1 0 0 PRNP 5621 broad.mit.edu 37 20 4680489 4680489 + Missense_Mutation SNP G G A rs74315412 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:4680489G>A ENST00000379440.4 + 2 910 c.623G>A c.(622-624)cGc>cAc p.R208H PRNP_ENST00000430350.2_Missense_Mutation_p.R208H NM_000311.3|NM_001080121.1|NM_001080122.1|NM_001080123.1|NM_001271561.1|NM_183079.2 NP_000302.1|NP_001073590.1|NP_001073591.1|NP_001073592.1|NP_001258490.1|NP_898902.1 P04156 PRIO_HUMAN prion protein 208 Interaction with GRB2, ERI3 and SYN1 (By similarity). R -> H (in CJD). axon guidance|cell cycle arrest|cellular copper ion homeostasis|metabolic process|negative regulation of activated T cell proliferation|negative regulation of calcineurin-NFAT signaling pathway|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-2 production|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell receptor signaling pathway|protein homooligomerization|response to oxidative stress anchored to membrane|endoplasmic reticulum|extrinsic to membrane|Golgi apparatus|membrane raft|nucleus|plasma membrane copper ion binding|identical protein binding|microtubule binding central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1) 14 Tetracycline(DB00759) ATGATGGAGCGCGTGGTTGAG 0.527000 13 64 0 0 1 0 0 BAI3 577 broad.mit.edu 37 6 70071052 70071052 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:70071052T>C ENST00000370598.1 + 29 4708 c.3887T>C c.(3886-3888)aTa>aCa p.I1296T BAI3_ENST00000238918.8_Missense_Mutation_p.I502T|BAI3_ENST00000546190.1_Missense_Mutation_p.I260T NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 1296 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity 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) GACATGGACATAGTCCATCCT 0.368000 13 54 0 0 1 0 0 DDX21 9188 broad.mit.edu 37 10 70719971 70719971 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:70719971C>T ENST00000354185.4 + 2 595 c.497C>T c.(496-498)gCt>gTt p.A166V NM_001256910.1|NM_004728.3 NP_001243839.1|NP_004719.2 Q9NR30 DDX21_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 21 166 nucleolus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 20 CCCAGTGAAGCTGCCAGTGAA 0.393000 8 97 0 0 1 0 0 GAS7 8522 broad.mit.edu 37 17 10101649 10101649 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:10101649C>T ENST00000432992.2 - 1 219 c.59G>A c.(58-60)gGg>gAg p.G20E GAS7_ENST00000540214.1_5'UTR NM_201433.1 NP_958839.1 O60861 GAS7_HUMAN growth arrest-specific 7 20 SH3. cell cycle arrest cytoplasm sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 39 GAAGCGCAGCCCCTGGCCGTG 0.736000 T MLL AML* 5 43 0 0 1 0 0 APITD1 378708 broad.mit.edu 37 1 10500429 10500429 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:10500429A>G ENST00000602787.1 + 4 651 c.235A>G c.(235-237)Act>Gct p.T79A APITD1_ENST00000462462.1_3'UTR|APITD1-CORT_ENST00000465026.1_3'UTR|APITD1-CORT_ENST00000400900.2_Missense_Mutation_p.T79A|APITD1-CORT_ENST00000470413.2_Intron|APITD1_ENST00000309048.3_Missense_Mutation_p.T79A|APITD1_ENST00000602296.1_Intron NM_198544.3 NP_940946.1 apoptosis-inducing, TAF9-like domain 1 kidney(1)|lung(1)|ovary(1)|stomach(1) 4 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.31e-07)|COAD - Colon adenocarcinoma(227;7.32e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487) CACAATTAACACTGAAGATGT 0.403000 10 33 0 0 1 0 0 KDM2B 84678 broad.mit.edu 37 12 121986850 121986850 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:121986850C>T ENST00000377069.4 - 6 928 c.522G>A c.(520-522)caG>caA p.Q174Q KDM2B_ENST00000536437.1_Silent_p.Q88Q|KDM2B_ENST00000538046.2_Silent_p.Q205Q|KDM2B_ENST00000377071.4_Silent_p.Q205Q NM_001005366.1 NP_001005366.1 Q8NHM5 KDM2B_HUMAN lysine (K)-specific demethylase 2B 205 embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding p.Q205Q(1) breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 19 CCTTCAGATGCTGGGGCCACA 0.552000 13 134 0 0 1 0 0 CLSTN2 64084 broad.mit.edu 37 3 140282029 140282029 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:140282029C>T ENST00000458420.3 + 15 2656 c.2466C>T c.(2464-2466)agC>agT p.S822S NM_022131.2 NP_071414.2 Q9H4D0 CSTN2_HUMAN calsyntenin 2 822 homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 87 CCCGGAGTAGCATCCAGCACA 0.502000 HNSCC(16;0.037) 17 102 0 0 1 0 0 SLC34A2 10568 broad.mit.edu 37 4 25678331 25678331 + Missense_Mutation SNP T T A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:25678331T>A ENST00000382051.3 + 13 2083 c.2033T>A c.(2032-2034)gTc>gAc p.V678D SLC34A2_ENST00000504570.1_Missense_Mutation_p.V677D|SLC34A2_ENST00000503434.1_Missense_Mutation_p.V677D NM_001177998.1|NM_006424.2 NP_001171469.1|NP_006415.2 O95436 NPT2B_HUMAN solute carrier family 34 (type II sodium/phosphate contransporter), member 2 678 cellular phosphate ion homeostasis apical plasma membrane|brush border membrane|integral to plasma membrane phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity SLC34A2/ROS1(14) breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4) 41 Breast(46;0.0503) CAGGGTGAGGTCCCTGCCTCG 0.582000 T ROS1 NSCLC 13 62 0 0 1 0 0 FAM216B 144809 broad.mit.edu 37 13 43358251 43358251 + Missense_Mutation SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr13:43358251A>T ENST00000537894.1 + 2 171 c.48A>T c.(46-48)caA>caT p.Q16H FAM216B_ENST00000313851.1_Missense_Mutation_p.Q16H NM_182508.2 NP_872314.1 Q8N7L0 CM030_HUMAN family with sequence similarity 216, member B 16 ATGTTCCACAACTTCCTTTTA 0.348000 24 61 0 0 1 0 0 DAGLA 747 broad.mit.edu 37 11 61502471 61502471 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:61502471T>C ENST00000257215.5 + 10 1241 c.1125T>C c.(1123-1125)gaT>gaC p.D375D NM_006133.2 NP_006124.1 Q9Y4D2 DGLA_HUMAN diacylglycerol lipase, alpha 375 cell death|lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 43 READ - Rectum adenocarcinoma(4;0.219) CCTGCCATGATGCGGTGAGGC 0.622000 32 343 0 0 1 0 0 MCMDC2 157777 broad.mit.edu 37 8 67808486 67808486 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:67808486T>C ENST00000422365.2 + 11 1532 c.1361T>C c.(1360-1362)gTt>gCt p.V454A MCMDC2_ENST00000396592.3_Missense_Mutation_p.V454A|MCMDC2_ENST00000313616.5_Missense_Mutation_p.V454A|MCMDC2_ENST00000541540.1_Missense_Mutation_p.V391A NM_173518.4 NP_775789.3 Q4G0Z9 CH045_HUMAN minichromosome maintenance domain containing 2 454 DNA replication ATP binding|DNA binding endometrium(2)|kidney(2)|lung(5) 9 ACTTTTCCAGTTCAGTGCAGT 0.388000 5 165 0 0 1 0 0 ATXN10 25814 broad.mit.edu 37 22 46239047 46239047 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr22:46239047A>G ENST00000252934.5 + 11 1679 c.1414A>G c.(1414-1416)Acc>Gcc p.472_472insA ATXN10_ENST00000402380.3_Missense_Mutation_p.123_123insA|ATXN10_ENST00000381061.4_Missense_Mutation_p.408_408insA NM_013236.3 NP_037368.1 Q9UBB4 ATX10_HUMAN ataxin 10 0 cell death|neuron projection development dendrite|neuronal cell body|perinuclear region of cytoplasm central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1) 10 Ovarian(80;0.00973)|all_neural(38;0.0417) UCEC - Uterine corpus endometrioid carcinoma (28;0.0223) TACTAGAGACACCCCTAAGCC 0.468000 9 82 0 0 1 0 0 LARP4B 23185 broad.mit.edu 37 10 860989 860989 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:860989C>T ENST00000316157.3 - 15 1757 c.1717G>A c.(1717-1719)Gtg>Atg p.V573M LARP4B_ENST00000469487.1_5'UTR NM_015155.1 NP_055970.1 Q92615 LAR4B_HUMAN La ribonucleoprotein domain family, member 4B 573 nucleotide binding|RNA binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2) 38 AGGGTGTTCACGCTTGCGTCT 0.592000 27 76 0 0 1 0 0 GAREM 64762 broad.mit.edu 37 18 29848107 29848107 + Silent SNP C C T rs150643395 byFrequency TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr18:29848107C>T ENST00000399218.4 - 6 2410 c.2355G>A c.(2353-2355)ccG>ccA p.P785P GAREM_ENST00000269209.6_Silent_p.P786P NM_001242409.1|NM_022751.2 NP_001229338.1|NP_073588.1 GRB2 associated, regulator of MAPK1 GGAGATGGAGCGGAGATGAGA 0.547000 14 43 0 0 1 0 0 PLEKHG4 25894 broad.mit.edu 37 16 67319354 67319354 + Missense_Mutation SNP G G A rs150434910 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:67319354G>A ENST00000360461.5 + 13 4892 c.2357G>A c.(2356-2358)cGg>cAg p.R786Q PLEKHG4_ENST00000450733.1_Missense_Mutation_p.R705Q|PLEKHG4_ENST00000379344.3_Missense_Mutation_p.R786Q|PLEKHG4_ENST00000427155.2_Missense_Mutation_p.R786Q NM_001129727.1|NM_015432.3 NP_001123199.1|NP_056247.1 Q58EX7 PKHG4_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 4 786 DH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity p.R786L(1) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119) GAGAAGCTGCGGGACTTCCAC 0.632000 5 152 0 0 1 0 0 RWDD2B 10069 broad.mit.edu 37 21 30380082 30380082 + Splice_Site SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr21:30380082C>A ENST00000493196.1 - 4 825 c.725_splice c.e4+1 p.R242_splice RWDD2B_ENST00000486719.1_5'UTR NM_016940.2 NP_058636.1 P57060 RWD2B_HUMAN RWD domain containing 2B 242 endometrium(1)|kidney(1)|large_intestine(8)|lung(2) 12 AAAAGCAAACCTTGACCAGAA 0.428000 14 65 0.00400662 0.00403976 1 1 0 OPA1 4976 broad.mit.edu 37 3 193377314 193377314 + Missense_Mutation SNP G G C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:193377314G>C ENST00000361510.2 + 25 2718 c.2484G>C c.(2482-2484)aaG>aaC p.K828N OPA1_ENST00000361908.3_Missense_Mutation_p.K810N|OPA1_ENST00000361150.2_Missense_Mutation_p.K774N|OPA1_ENST00000392438.3_Missense_Mutation_p.K773N|OPA1_ENST00000361828.2_Missense_Mutation_p.K791N|OPA1_ENST00000361715.2_Missense_Mutation_p.K792N NM_130837.2 NP_570850.2 O60313 OPA1_HUMAN optic atrophy 1 (autosomal dominant) 773 apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane GTP binding|GTPase activity|magnesium ion binding|protein binding breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 all_cancers(143;9.56e-09)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000162) ACTGGAAAAAGAGGTGGTTAT 0.308000 11 18 0 0 1 0 0 NCOA1 8648 broad.mit.edu 37 2 24933863 24933863 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:24933863C>T ENST00000405141.1 + 15 3193 c.2482C>T c.(2482-2484)Cca>Tca p.P828S NCOA1_ENST00000348332.3_Missense_Mutation_p.P828S|NCOA1_ENST00000288599.5_Missense_Mutation_p.P828S|NCOA1_ENST00000538539.1_Missense_Mutation_p.P828S|NCOA1_ENST00000395856.3_Missense_Mutation_p.P828S|NCOA1_ENST00000407230.1_Missense_Mutation_p.P677S|NCOA1_ENST00000406961.1_Missense_Mutation_p.P828S Q15788 NCOA1_HUMAN nuclear receptor coactivator 1 828 Interaction with CREBBP. PAX3/NCOA1(8) breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 53 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGCACAGTTGCCAGGCTTATG 0.488000 T PAX3 alveolar rhadomyosarcoma 4 81 0 0 1 0 0 BBS2 583 broad.mit.edu 37 16 56519603 56519603 + Missense_Mutation SNP T T A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:56519603T>A ENST00000245157.5 - 16 2378 c.1958A>T c.(1957-1959)gAc>gTc p.D653V BBS2_ENST00000568104.1_Missense_Mutation_p.D607V NM_031885.3 NP_114091.3 Q9BXC9 BBS2_HUMAN Bardet-Biedl syndrome 2 653 adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development BBSome|cilium membrane|microtubule basal body|motile cilium protein binding breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3) 26 ATTTAGCAAGTCTCTATTAAG 0.378000 Bardet-Biedl syndrome 34 126 0 0 1 0 0 CTNND1 1500 broad.mit.edu 37 11 57575889 57575889 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:57575889C>T ENST00000524630.1 + 13 2614 c.2101C>T c.(2101-2103)Cgt>Tgt p.R701C CTNND1_ENST00000528621.1_Missense_Mutation_p.R647C|CTNND1_ENST00000415361.2_Missense_Mutation_p.R606C|CTNND1_ENST00000426142.2_Missense_Mutation_p.R600C|CTNND1_ENST00000526772.1_Missense_Mutation_p.R378C|CTNND1_ENST00000534579.1_Missense_Mutation_p.R647C|CTNND1_ENST00000529986.1_Missense_Mutation_p.R600C|CTNND1_ENST00000532463.1_Missense_Mutation_p.R600C|CTNND1_ENST00000428599.2_Missense_Mutation_p.R701C|CTNND1_ENST00000361796.4_Missense_Mutation_p.R701C|CTNND1_ENST00000526357.1_Missense_Mutation_p.R647C|CTNND1_ENST00000361332.4_Missense_Mutation_p.R701C|CTNND1_ENST00000529919.1_Missense_Mutation_p.R707C|CTNND1_ENST00000525902.1_Missense_Mutation_p.R384C|CTNND1_ENST00000526938.1_Missense_Mutation_p.R707C|CTNND1_ENST00000399050.4_Missense_Mutation_p.R707C|CTNND1_ENST00000528232.1_Missense_Mutation_p.R606C|CTNND1_ENST00000527467.1_Missense_Mutation_p.R384C|CTNND1_ENST00000532649.1_Missense_Mutation_p.R647C|CTNND1_ENST00000532245.1_Missense_Mutation_p.R600C|CTNND1_ENST00000531014.1_Missense_Mutation_p.R378C|CTNND1_ENST00000530094.1_Missense_Mutation_p.R600C|CTNND1_ENST00000360682.6_Missense_Mutation_p.R707C|CTNND1_ENST00000399039.4_Missense_Mutation_p.R707C|CTNND1_ENST00000532787.1_Missense_Mutation_p.R600C|CTNND1_ENST00000532844.1_Missense_Mutation_p.R653C|CTNND1_ENST00000529526.1_Missense_Mutation_p.R647C|CTNND1_ENST00000529873.1_Missense_Mutation_p.R647C|CTNND1_ENST00000361391.6_Missense_Mutation_p.R701C|CTNND1_ENST00000358694.6_Missense_Mutation_p.R701C|CTNND1_ENST00000530748.1_Missense_Mutation_p.R653C|CTNND1_ENST00000533667.1_Missense_Mutation_p.R378C O60716 CTND1_HUMAN catenin (cadherin-associated protein), delta 1 707 adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway cytosol|midbody|nucleus cadherin binding|protein binding|receptor binding breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2) 45 all_epithelial(135;0.155) CTCTGCTCTGCGTCAAGAGAA 0.458000 5 150 0 0 1 0 0 PPP1R13L 10848 broad.mit.edu 37 19 45889353 45889353 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:45889353G>A ENST00000418234.2 - 9 1979 c.1901C>T c.(1900-1902)gCg>gTg p.A634V PPP1R13L_ENST00000360957.5_Missense_Mutation_p.A634V NM_001142502.1 NP_001135974.1 Q8WUF5 IASPP_HUMAN protein phosphatase 1, regulatory subunit 13 like 634 apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus transcription corepressor activity|transcription factor binding breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0182) GGTCAGCGCCGCGTCCAGGAG 0.741000 3 14 0 0 1 0 0 ANKRD20A5P 440482 broad.mit.edu 37 18 14183992 14183992 + RNA SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr18:14183992T>C ENST00000581935.1 + 0 681 lung(3) 3 AATCCAAACCTTAAGGATATC 0.448000 8 213 0 0 1 0 0 RGS3 5998 broad.mit.edu 37 9 116276863 116276863 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:116276863G>A ENST00000374140.2 + 16 1812 c.1603G>A c.(1603-1605)Gcc>Acc p.A535T RGS3_ENST00000343817.5_Missense_Mutation_p.A254T|RGS3_ENST00000317613.6_Missense_Mutation_p.A423T|RGS3_ENST00000350696.5_Missense_Mutation_p.A535T|RGS3_ENST00000394646.3_Missense_Mutation_p.A254T|RGS3_ENST00000374136.1_Missense_Mutation_p.A161T NM_144488.4 NP_652759.3 P49796 RGS3_HUMAN regulator of G-protein signaling 3 535 inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway cytosol|nucleus|plasma membrane GTPase activator activity|signal transducer activity cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 48 GAGGCCGCATGCCACGCACTC 0.587000 32 102 0 0 1 0 0 BTG1 694 broad.mit.edu 37 12 92539207 92539207 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:92539207T>C ENST00000256015.3 - 1 466 c.105A>G c.(103-105)cgA>cgG p.R35R NM_001731.2 NP_001722.1 P62324 BTG1_HUMAN B-cell translocation gene 1, anti-proliferative 35 cell migration|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of endothelial cell differentiation|positive regulation of myoblast differentiation|regulation of apoptosis|regulation of transcription, DNA-dependent cytoplasm|nucleus kinase binding|transcription cofactor activity haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(1)|lung(2) 16 Acute lymphoblastic leukemia(6;3.02e-13)|all_hematologic(6;4.32e-09) TCTGCAGCTGTCGCTCGCTCG 0.667000 T MYC BCLL 13 66 0 0 1 0 0 APBB3 10307 broad.mit.edu 37 5 139938224 139938224 + Silent SNP G G C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:139938224G>C ENST00000357560.4 - 13 1850 c.1407C>G c.(1405-1407)gtC>gtG p.V469V APBB3_ENST00000354402.5_Silent_p.V476V|APBB3_ENST00000358580.5_3'UTR|APBB3_ENST00000508496.2_Silent_p.V246V|APBB3_ENST00000412920.3_Silent_p.V467V|APBB3_ENST00000356738.2_Silent_p.V474V NM_006051.3|NM_133173.2 NP_006042.3|NP_573419.2 O95704 APBB3_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 3 469 actin cytoskeleton|cytoplasm endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1) 11 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAAAAGAGAAGACACCCCGCT 0.597000 69 168 0 0 1 0 0 CTNNB1 1499 broad.mit.edu 37 3 41266654 41266654 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:41266654C>T ENST00000349496.5 + 4 731 c.451C>T c.(451-453)Cgt>Tgt p.R151C CTNNB1_ENST00000405570.1_Missense_Mutation_p.R151C|CTNNB1_ENST00000396183.3_Missense_Mutation_p.R151C|CTNNB1_ENST00000396185.3_Missense_Mutation_p.R151C|CTNNB1_ENST00000453024.1_Missense_Mutation_p.R144C NM_001904.3 NP_001895.1 P35222 CTNB1_HUMAN catenin (cadherin-associated protein), beta 1, 88kDa 151 adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding p.M1_V173del(1)|p.I35_K170del(1)|p.A13_R151del(1) CTNNB1/PLAG1(60) NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8) 3893 KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294) Lithium(DB01356) ACTTGCCACACGTGCAATCCC 0.428000 15 """H, Mis, T""" PLAG1 """colorectal, cvarian, hepatoblastoma, others, pleomorphic salivary adenoma""" Pilomatrixoma, Familial Clustering of 18 68 0 0 1 0 0 ADAMTS15 170689 broad.mit.edu 37 11 130343138 130343138 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:130343138T>C ENST00000299164.2 + 8 2275 c.2275T>C c.(2275-2277)Tac>Cac p.Y759H NM_139055.2 NP_620686.1 Q8TE58 ATS15_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 15 759 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1) 36 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215) TCTGCTGCGGTACAGCGGCAC 0.662000 8 136 0 0 1 0 0 PTPRG 5793 broad.mit.edu 37 3 62261570 62261570 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:62261570A>G ENST00000474889.1 + 24 3865 c.3488A>G c.(3487-3489)aAa>aGa p.K1163R PTPRG-AS1_ENST00000475371.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA|PTPRG_ENST00000295874.10_Missense_Mutation_p.K1134R|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA NM_002841.3 NP_002832.3 P23470 PTPRG_HUMAN protein tyrosine phosphatase, receptor type, G 1163 Tyrosine-protein phosphatase 2. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane identical protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065) TGTAATGCAAAATATGTGGAA 0.333000 5 43 0 0 1 0 0 ZNF252P 286101 broad.mit.edu 37 8 146220493 146220493 + RNA SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:146220493C>T ENST00000426361.2 - 0 245 NR_023392.1 endometrium(1) 1 GCAGCCACCTCAAGATCACAG 0.468000 14 31 0 0 1 0 0 DLC1 10395 broad.mit.edu 37 8 12943919 12943919 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:12943919A>G ENST00000276297.4 - 17 4755 c.4346T>C c.(4345-4347)gTg>gCg p.V1449A DLC1_ENST00000512044.2_Missense_Mutation_p.V1046A|DLC1_ENST00000510318.1_5'UTR|DLC1_ENST00000520226.1_Missense_Mutation_p.V938A|DLC1_ENST00000358919.2_Missense_Mutation_p.V1012A NM_182643.2 NP_872584.2 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 1449 START. actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 ATCGTGATCCACAGAGGTTAG 0.478000 5 167 0 0 1 0 0 SYNJ2 8871 broad.mit.edu 37 6 158487492 158487492 + Silent SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:158487492G>T ENST00000355585.4 + 12 1617 c.1542G>T c.(1540-1542)ctG>ctT p.L514L SYNJ2_ENST00000367121.3_Silent_p.L514L|SYNJ2_ENST00000449859.2_Silent_p.L442L|SYNJ2_ENST00000367122.2_Silent_p.L514L NM_001178088.1|NM_003898.3 NP_001171559.1|NP_003889.1 O15056 SYNJ2_HUMAN synaptojanin 2 514 nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05) CCAGGATCCTGAAAGCTATGA 0.507000 15 61 2.23348e-06 2.28775e-06 1 1 0 NKX2-4 644524 broad.mit.edu 37 20 21376835 21376835 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:21376835C>T ENST00000351817.4 - 2 1407 c.779G>A c.(778-780)gGc>gAc p.G260D NM_033176.1 NP_149416.1 Q9H2Z4 NKX24_HUMAN NK2 homeobox 4 260 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity lung(2)|upper_aerodigestive_tract(1) 3 gcccaggccgcccTCCTGCTG 0.711000 4 6 0 0 1 0 0 ELSPBP1 64100 broad.mit.edu 37 19 48519200 48519200 + Missense_Mutation SNP A A C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:48519200A>C ENST00000339841.2 + 4 437 c.259A>C c.(259-261)Agc>Cgc p.S87R ELSPBP1_ENST00000597519.1_Intron NM_022142.4 NP_071425.3 Q96BH3 ESPB1_HUMAN epididymal sperm binding protein 1 87 Fibronectin type-II 2. single fertilization extracellular region NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6) 10 all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606) GGCTTATAACAGCTGCATCTC 0.468000 29 74 0 0 1 0 0 EFR3A 23167 broad.mit.edu 37 8 132952768 132952768 + Silent SNP T T G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:132952768T>G ENST00000254624.5 + 2 258 c.33T>G c.(31-33)gcT>gcG p.A11A EFR3A_ENST00000519656.1_5'UTR|EFR3A_ENST00000334503.4_Silent_p.A11A NM_015137.4 NP_055952.2 Q14156 EFR3A_HUMAN EFR3 homolog A (S. cerevisiae) 11 plasma membrane binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2) 35 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102) GCTGTTCCGCTTTGCGTCCTC 0.373000 6 13 0 0 1 0 0 EFNB3 1949 broad.mit.edu 37 17 7609005 7609005 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:7609005T>C ENST00000226091.2 + 1 486 c.89T>C c.(88-90)cTg>cCg p.L30P NM_001406.3 NP_001397.1 Q15768 EFNB3_HUMAN ephrin-B3 30 cell-cell signaling|interspecies interaction between organisms integral to plasma membrane ephrin receptor binding|transmembrane-ephrin receptor activity large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1) 8 all_cancers(10;1.14e-06)|Prostate(122;0.081) GGGCTCAGCCTGGAGCCTGTC 0.682000 19 58 0 0 1 0 0 OR52B6 340980 broad.mit.edu 37 11 5602245 5602245 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:5602245C>T ENST00000345043.2 + 1 139 c.139C>T c.(139-141)Ctg>Ttg p.L47L HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA NM_001005162.2 NP_001005162.2 Q8NGF0 O52B6_HUMAN olfactory receptor, family 52, subfamily B, member 6 47 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1) 12 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ACATATCTGGCTGTCCATCCC 0.507000 14 64 0 0 1 0 0 RNPS1 10921 broad.mit.edu 37 16 2313109 2313109 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:2313109C>T ENST00000565678.1 - 4 952 c.407G>A c.(406-408)cGc>cAc p.R136H RNPS1_ENST00000301730.8_Missense_Mutation_p.R136H|RNPS1_ENST00000320225.5_Missense_Mutation_p.R136H|RNPS1_ENST00000568631.1_Missense_Mutation_p.R136H|RNPS1_ENST00000569598.2_Missense_Mutation_p.R42H|RNPS1_ENST00000397086.2_Missense_Mutation_p.R136H|RNPS1_ENST00000566397.1_5'UTR|RNPS1_ENST00000566458.1_Missense_Mutation_p.R113H|RNPS1_ENST00000561718.1_5'UTR|RNPS1_ENST00000567147.1_Missense_Mutation_p.R113H Q15287 RNPS1_HUMAN RNA binding protein S1, serine-rich domain 136 Arg-rich.|Necessary for interaction with SRP54, nuclear localization and exon-skipping.|Necessary for interaction with the cleaved p110 isoform of CDC2L1.|Ser-rich. mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|termination of RNA polymerase II transcription cytosol|nuclear speck mRNA 3'-UTR binding|nucleotide binding|protein binding endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|urinary_tract(1) 9 GGAGCGGGAGCGCCTCCTGTT 0.582000 14 51 0 0 1 0 0 GPC6 10082 broad.mit.edu 37 13 94680114 94680114 + Missense_Mutation SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr13:94680114G>T ENST00000377047.4 + 4 1458 c.843G>T c.(841-843)caG>caT p.Q281H NM_005708.3 NP_005699.1 Q9Y625 GPC6_HUMAN glypican 6 281 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 38 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217) TGGCAAATCAGGCTGACCTCG 0.493000 44 104 1.76056e-25 1.86429e-25 1 1 0 FBXO7 25793 broad.mit.edu 37 22 32894221 32894221 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr22:32894221T>C ENST00000266087.7 + 9 1600 c.1273T>C c.(1273-1275)Tat>Cat p.Y425H FBXO7_ENST00000397426.1_Missense_Mutation_p.Y311H|FBXO7_ENST00000382058.3_Missense_Mutation_p.Y346H NM_012179.3 NP_036311.3 Q9Y3I1 FBX7_HUMAN F-box protein 7 425 cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 CATTCCATTCTATCCCAACCC 0.498000 20 203 0 0 1 0 0 CCBL2 56267 broad.mit.edu 37 1 89408720 89408720 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:89408720A>G ENST00000260508.4 - 13 1607 c.1270T>C c.(1270-1272)Ttt>Ctt p.F424L CCBL2_ENST00000370485.2_3'UTR|CCBL2_ENST00000370491.3_Missense_Mutation_p.F390L|CCBL2_ENST00000446900.2_5'UTR NM_001008661.2 NP_001008661.1 Q6YP21 KAT3_HUMAN cysteine conjugate-beta lyase 2 424 biosynthetic process|kynurenine metabolic process|tryptophan catabolic process cysteine-S-conjugate beta-lyase activity|kynurenine-glyoxylate transaminase activity|kynurenine-oxoglutarate transaminase activity|pyridoxal phosphate binding endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|ovary(2)|skin(2)|soft_tissue(1) 18 Lung NSC(277;0.123) all cancers(265;0.0117)|Epithelial(280;0.0341) L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) AACTTCTCAAACTGTGATTTA 0.303000 60 214 0 0 1 0 0 SLC38A2 54407 broad.mit.edu 37 12 46759025 46759025 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:46759025A>G ENST00000551374.1 - 1 65 c.25T>C c.(25-27)Tat>Cat p.Y9H SLC38A2_ENST00000547252.1_Intron|SLC38A2_ENST00000256689.5_Intron Q96QD8 S38A2_HUMAN solute carrier family 38, member 2 0 Regulates protein turnover upon amino acid deprivation (By similarity). cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport integral to membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 18 Lung SC(27;0.192)|Renal(347;0.236) OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374) GBM - Glioblastoma multiforme(48;0.226) TCTGAAAAATATACACATCTT 0.348000 17 24 0 0 1 0 0 XIST 7503 broad.mit.edu 37 X 73065129 73065129 + RNA SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chrX:73065129A>G ENST00000429829.1 - 0 7459 NR_001564.2 CACACACATAACAGGCCAGGA 0.507000 67 63 0 0 1 0 0 PDE6A 5145 broad.mit.edu 37 5 149265933 149265933 + Missense_Mutation SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:149265933C>A ENST00000255266.5 - 14 1852 c.1733G>T c.(1732-1734)gGa>gTa p.G578V NM_000440.2 NP_000431.2 P16499 PDE6A_HUMAN phosphodiesterase 6A, cGMP-specific, rod, alpha 578 cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception cytosol|plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 44 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) CTTCAGCTTTCCCGTCTGGAA 0.532000 12 40 0.00010058 0.000102188 1 1 0 SULT1E1 6783 broad.mit.edu 37 4 70721142 70721142 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:70721142T>C ENST00000226444.3 - 3 260 c.148A>G c.(148-150)Aca>Gca p.T50A NM_005420.2 NP_005411.1 P49888 ST1E1_HUMAN sulfotransferase family 1E, estrogen-preferring, member 1 50 3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process cytosol|nuclear membrane estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1) 10 ACCCAGGTTGTACCTGTAAAA 0.368000 5 45 0 0 1 0 0 MAST4 375449 broad.mit.edu 37 5 66459127 66459127 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:66459127A>G ENST00000404260.3 + 29 4437 c.4129A>G c.(4129-4131)Atc>Gtc p.I1377V MAST4_ENST00000403625.2_Missense_Mutation_p.I1374V|MAST4_ENST00000405643.1_Missense_Mutation_p.I1195V|MAST4_ENST00000261569.7_Missense_Mutation_p.I1180V|MAST4_ENST00000403666.1_Missense_Mutation_p.I1185V O15021 MAST4_HUMAN microtubule associated serine/threonine kinase family member 4 1377 cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) CGCCGGCAACATCCCACTGTC 0.682000 36 106 0 0 1 0 0 CTLA4 1493 broad.mit.edu 37 2 204735498 204735498 + Missense_Mutation SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:204735498A>T ENST00000302823.3 + 2 456 c.299A>T c.(298-300)gAt>gTt p.D100V CTLA4_ENST00000427473.2_Missense_Mutation_p.D63V|CTLA4_ENST00000295854.6_Missense_Mutation_p.D100V|CTLA4_ENST00000472206.1_Intron|CTLA4_ENST00000487393.1_Intron NM_005214.4 NP_005205.2 P16410 CTLA4_HUMAN cytotoxic T-lymphocyte-associated protein 4 100 Ig-like V-type. B cell receptor signaling pathway|immune response|negative regulation of B cell proliferation|negative regulation of regulatory T cell differentiation|positive regulation of apoptosis|response to DNA damage stimulus|T cell costimulation clathrin-coated endocytic vesicle|external side of plasma membrane|Golgi apparatus|integral to plasma membrane|perinuclear region of cytoplasm large_intestine(4)|lung(4)|skin(1) 9 Abatacept(DB01281) TTCCTAGATGATTCCATCTGC 0.552000 38 119 0 0 1 0 0 UST 10090 broad.mit.edu 37 6 149342555 149342555 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:149342555T>C ENST00000367463.4 + 7 978 c.875T>C c.(874-876)cTg>cCg p.L292P NM_005715.2 NP_005706.1 Q9Y2C2 UST_HUMAN uronyl-2-sulfotransferase 292 protein sulfation Golgi membrane|integral to membrane sulfotransferase activity breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2) 12 Ovarian(120;0.0907) OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138) GATGTGCTGCTGTTACTGGAA 0.458000 25 66 0 0 1 0 0 MRPL47 57129 broad.mit.edu 37 3 179310503 179310503 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:179310503T>C ENST00000476781.1 - 6 587 c.558A>G c.(556-558)atA>atG p.I186M MRPL47_ENST00000259038.2_Missense_Mutation_p.I166M|MRPL47_ENST00000392659.2_Missense_Mutation_p.I76M NM_020409.2 NP_065142.2 Q9HD33 RM47_HUMAN mitochondrial ribosomal protein L47 186 translation mitochondrial ribosome structural constituent of ribosome breast(1)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|stomach(1) 11 all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191) OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18) GGTGCCAAGGTATAACCCACT 0.343000 8 27 0 0 1 0 0 FAM161A 84140 broad.mit.edu 37 2 62066963 62066963 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:62066963T>C ENST00000404929.1 - 3 1187 c.1176A>G c.(1174-1176)ttA>ttG p.L392L FAM161A_ENST00000405894.3_Silent_p.L392L NM_001201543.1 NP_001188472.1 Q3B820 F161A_HUMAN family with sequence similarity 161, member A 392 response to stimulus|visual perception centrosome p.L283F(1) breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 ATGAGTTCTGTAAATGCTCCT 0.458000 21 67 0 0 1 0 0 TRIM32 22954 broad.mit.edu 37 9 119461806 119461806 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:119461806T>C ENST00000450136.1 + 2 1946 c.1785T>C c.(1783-1785)agT>agC p.S595S ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000373996.3_Intron|ASTN2_ENST00000313400.4_Intron|ASTN2_ENST00000361209.2_Intron|TRIM32_ENST00000373983.2_Silent_p.S595S NM_001099679.1|NM_012210.3 NP_001093149.1|NP_036342.2 Q13049 TRI32_HUMAN tripartite motif containing 32 595 fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV nucleus myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1) 26 CTGACAGTAGTCGCAAGGAAA 0.527000 18 60 0 0 1 0 0 BAI3 577 broad.mit.edu 37 6 70048869 70048869 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:70048869A>G ENST00000370598.1 + 25 4071 c.3250A>G c.(3250-3252)Aca>Gca p.T1084A BAI3_ENST00000238918.8_Missense_Mutation_p.T290A|BAI3_ENST00000546190.1_Missense_Mutation_p.T48A NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 1084 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity 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) AGTAGTTTCAACAACAGCTTT 0.418000 13 130 0 0 1 0 0 CACNA1B 774 broad.mit.edu 37 9 140811791 140811791 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:140811791T>C ENST00000371372.1 + 6 1019 c.874T>C c.(874-876)Ttt>Ctt p.F292L CACNA1B_ENST00000371357.1_Missense_Mutation_p.F292L|CACNA1B_ENST00000277551.2_Missense_Mutation_p.F292L|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371363.1_Missense_Mutation_p.F292L|CACNA1B_ENST00000371355.4_Missense_Mutation_p.F292L NM_000718.3|NM_001243812.1 NP_000709.1|NP_001230741.1 Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 292 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity p.F292V(1) NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) AGGACCCAACTTTGGCATCAC 0.582000 37 106 0 0 1 0 0 MSMP 692094 broad.mit.edu 37 9 35753693 35753693 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:35753693G>A ENST00000436428.2 - 2 342 c.203C>T c.(202-204)aCc>aTc p.T68I MSMP_ENST00000414286.1_5'UTR|RGP1_ENST00000378078.4_3'UTR NM_001044264.2 NP_001037729.1 Q1L6U9 MSMP_HUMAN microseminoprotein, prostate associated 68 extracellular region endometrium(2)|kidney(1)|lung(3)|prostate(3) 9 ATGCAGACAGGTGCAATGGAA 0.522000 10 35 0 0 1 0 0 TM9SF3 56889 broad.mit.edu 37 10 98311121 98311121 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:98311121A>G ENST00000371142.4 - 7 1056 c.840T>C c.(838-840)gaT>gaC p.D280D TM9SF3_ENST00000490192.1_5'UTR NM_020123.3 NP_064508.3 Q9HD45 TM9S3_HUMAN transmembrane 9 superfamily member 3 280 integral to membrane binding breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1) 15 Colorectal(252;0.158) Epithelial(162;1.84e-09)|all cancers(201;2.84e-08) GTCTAAATACATCTCCATGCA 0.358000 9 128 0 0 1 0 0 DOCK3 1795 broad.mit.edu 37 3 51394560 51394560 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:51394560A>G ENST00000266037.9 + 44 4694 c.4671A>G c.(4669-4671)gcA>gcG p.A1557A NM_004947.4 NP_004938.1 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 1557 DHR-2. cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) GAGGCATTGCACGCTATCAGG 0.517000 30 133 0 0 1 0 0 NFASC 23114 broad.mit.edu 37 1 204957844 204957844 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:204957844G>A ENST00000367172.4 + 25 3326 c.2998G>A c.(2998-3000)Gtg>Atg p.V1000M NFASC_ENST00000338586.6_Missense_Mutation_p.V1000M|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000339876.6_Missense_Mutation_p.V893M|NFASC_ENST00000404907.1_Missense_Mutation_p.V996M|NFASC_ENST00000539706.1_Missense_Mutation_p.V996M|NFASC_ENST00000401399.1_Missense_Mutation_p.V893M|NFASC_ENST00000360049.4_Missense_Mutation_p.V996M|NFASC_ENST00000367170.4_Missense_Mutation_p.V1000M|NFASC_ENST00000404076.1_Missense_Mutation_p.V979M|NFASC_ENST00000513543.1_Missense_Mutation_p.V996M|NFASC_ENST00000367171.4_Missense_Mutation_p.V985M|NFASC_ENST00000367169.4_Missense_Mutation_p.V893M|NFASC_ENST00000338515.6_Missense_Mutation_p.V1000M O94856 NFASC_HUMAN neurofascin 1000 Fibronectin type-III 4. axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 81 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) AACGGACCCCGTGTCACGCTA 0.562000 33 97 0 0 1 0 0 OSCAR 126014 broad.mit.edu 37 19 54598534 54598534 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:54598534A>G ENST00000358375.4 - 5 789 c.744T>C c.(742-744)acT>acC p.T248T OSCAR_ENST00000391761.1_3'UTR|OSCAR_ENST00000356532.3_Silent_p.T252T|OSCAR_ENST00000359649.4_3'UTR|OSCAR_ENST00000351806.4_Silent_p.T237T|OSCAR_ENST00000284648.6_3'UTR NM_133169.3 NP_573399.1 Q8IYS5 OSCAR_HUMAN osteoclast associated, immunoglobulin-like receptor 0 extracellular region|integral to membrane|plasma membrane receptor activity large_intestine(1)|skin(1) 2 all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19) GCCAGTCAAAAGTGACCAGCG 0.677000 7 23 0 0 1 0 0 MSS51 118490 broad.mit.edu 37 10 75187958 75187958 + Missense_Mutation SNP T T G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:75187958T>G ENST00000299432.2 - 2 150 c.85A>C c.(85-87)Acc>Ccc p.T29P MSS51_ENST00000372912.1_Missense_Mutation_p.T29P NM_001024593.1 NP_001019764.1 Q4VC12 ZMY17_HUMAN MSS51 mitochondrial translational activator 29 zinc ion binding GGCACAGGGGTCACAATTGTG 0.557000 6 82 0 0 1 0 0 TANGO6 79613 broad.mit.edu 37 16 68961841 68961841 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:68961841G>A ENST00000261778.1 + 13 2510 c.2498G>A c.(2497-2499)aGc>aAc p.S833N RP11-521L9.1_ENST00000562790.1_lincRNA NM_024562.1 NP_078838.1 transport and golgi organization 6 homolog (Drosophila) AAATCTGGAAGCGTAACCACA 0.512000 7 32 0 0 1 0 0 CHRNA10 57053 broad.mit.edu 37 11 3688681 3688681 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:3688681C>T ENST00000250699.2 - 4 747 c.676G>A c.(676-678)Gtc>Atc p.V226I CHRNA10_ENST00000534359.1_Silent_p.T43T NM_020402.2 NP_065135.2 Q9GZZ6 ACH10_HUMAN cholinergic receptor, nicotinic, alpha 10 (neuronal) 226 elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic cell junction|postsynaptic membrane calcium channel activity|receptor activity|receptor binding breast(1)|endometrium(2)|lung(3)|ovary(1) 7 Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577) BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192) Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116) GTGAAGGTGACGTCGGGGTAG 0.716000 4 32 0 0 1 0 0 SLC25A35 399512 broad.mit.edu 37 17 8197893 8197893 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:8197893C>T ENST00000380067.2 - 1 277 c.233G>A c.(232-234)gGc>gAc p.G78D SLC25A35_ENST00000579192.1_Missense_Mutation_p.G78D|SLC25A35_ENST00000577745.1_Missense_Mutation_p.G78D|SLC25A35_ENST00000396278.1_Missense_Mutation_p.G78D|SLC25A35_ENST00000580340.1_Missense_Mutation_p.G78D NM_201520.1 NP_958928.1 Q3KQZ1 S2535_HUMAN solute carrier family 25, member 35 78 transport integral to membrane|mitochondrial inner membrane breast(2)|large_intestine(2)|lung(2) 6 CAGTCGGATGCCATTCATCAG 0.632000 12 68 0 0 1 0 0 MDN1 23195 broad.mit.edu 37 6 90482396 90482396 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:90482396A>G ENST00000369393.3 - 14 2094 c.1979T>C c.(1978-1980)aTc>aCc p.I660T MDN1_ENST00000428876.1_Missense_Mutation_p.I660T Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 660 I -> V (in dbSNP:rs12110451). protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) AAGCTGCTCGATGAGAACAGA 0.507000 27 126 0 0 1 0 0 SLC39A9 55334 broad.mit.edu 37 14 69866167 69866167 + Silent SNP T T A rs111934367 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:69866167T>A ENST00000031146.4 + 1 759 c.81T>A c.(79-81)gcT>gcA p.A27A SLC39A9_ENST00000555245.1_Intron|SLC39A9_ENST00000556605.1_Silent_p.A27A|SLC39A9_ENST00000557046.1_Silent_p.A27A|SLC39A9_ENST00000336643.5_Silent_p.A27A Q9NUM3 S39A9_HUMAN solute carrier family 39, member 9 27 zinc ion transport integral to membrane metal ion transmembrane transporter activity breast(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|skin(1)|stomach(1) 14 all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373) TTCCCTTGGCTGTTAATTTCT 0.448000 11 24 0 0 1 0 0 ERBB2IP 55914 broad.mit.edu 37 5 65309448 65309448 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:65309448T>C ENST00000284037.5 + 6 847 c.458T>C c.(457-459)tTg>tCg p.L153S ERBB2IP_ENST00000380936.1_Missense_Mutation_p.L153S|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.L153S|ERBB2IP_ENST00000416865.2_Missense_Mutation_p.L153S|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.L153S|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.L153S|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.L153S|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.L153S|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.L153S|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.L153S NM_001253697.1 NP_001240626.1 Q96RT1 LAP2_HUMAN erbb2 interacting protein 153 basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization basement membrane|cytoplasm|hemidesmosome|nucleus ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2) 36 Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234) UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191) CTTGAGTTCTTGCCAGCAAAT 0.333000 18 89 0 0 1 0 0 CCT4 10575 broad.mit.edu 37 2 62099690 62099690 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:62099690T>C ENST00000394440.3 - 11 1455 c.1159A>G c.(1159-1161)Aca>Gca p.T387A CCT4_ENST00000461540.2_Intron|AC107081.5_ENST00000425779.1_RNA|CCT4_ENST00000538252.1_Missense_Mutation_p.T331A|CCT4_ENST00000544079.1_Missense_Mutation_p.T357A|CCT4_ENST00000544185.1_Missense_Mutation_p.T237A NM_006430.3 NP_006421.2 P50991 TCPD_HUMAN chaperonin containing TCP1, subunit 4 (delta) 387 'de novo' posttranslational protein folding melanosome|microtubule organizing center|nucleus ATP binding|unfolded protein binding p.T387A(1) breast(1)|large_intestine(2)|lung(6)|ovary(2) 11 Lung NSC(7;0.035)|all_lung(7;0.0691) LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221) ACAACAATTGTAACTGTTTTT 0.428000 24 78 0 0 1 0 0 IRAK4 51135 broad.mit.edu 37 12 44180497 44180497 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:44180497G>A ENST00000431837.1 + 11 1298 c.990G>A c.(988-990)ctG>ctA p.L330L IRAK4_ENST00000448290.2_Silent_p.L454L|IRAK4_ENST00000440781.2_Silent_p.L330L|IRAK4_ENST00000551736.1_Silent_p.L454L NM_001145256.1|NM_001145257.1 NP_001138728.1|NP_001138729.1 Q9NWZ3 IRAK4_HUMAN interleukin-1 receptor-associated kinase 4 454 Protein kinase. innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity all_cancers(12;0.00149) Lung NSC(34;0.0804)|all_lung(34;0.181) GBM - Glioblastoma multiforme(48;0.04) AACAGCTGCTGCAAGAGATGA 0.299000 14 58 0 0 1 0 0 ROCK2 9475 broad.mit.edu 37 2 11354567 11354567 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:11354567T>C ENST00000315872.6 - 17 2407 c.1959A>G c.(1957-1959)gaA>gaG p.E653E ROCK2_ENST00000401753.1_Silent_p.E410E NM_004850.3 NP_004841.2 O75116 ROCK2_HUMAN Rho-associated, coiled-coil containing protein kinase 2 653 Interaction with PPP1R12A. axon guidance|cytokinesis|intracellular signal transduction cytosol|plasma membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2) 43 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162) TCTTTAAATCTTCTTCTAGGC 0.313000 13 41 0 0 1 0 0 EHMT1 79813 broad.mit.edu 37 9 140705943 140705943 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:140705943T>C ENST00000460843.1 + 19 2770 c.2743T>C c.(2743-2745)Ttc>Ctc p.F915L NM_024757.4 NP_079033.4 Q9H9B1 EHMT1_HUMAN euchromatic histone-lysine N-methyltransferase 1 915 DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 all_cancers(76;0.164) OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728) CTGGGCGGCGTTCTCCGGCTG 0.637000 32 68 0 0 1 0 0 DLGAP5 9787 broad.mit.edu 37 14 55649131 55649131 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:55649131C>T ENST00000247191.2 - 4 668 c.452G>A c.(451-453)cGg>cAg p.R151Q DLGAP5_ENST00000395425.2_Missense_Mutation_p.R151Q NM_014750.4 NP_055565.3 Q15398 DLGP5_HUMAN discs, large (Drosophila) homolog-associated protein 5 151 cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition nucleus|spindle pole centrosome phosphoprotein phosphatase activity|protein binding biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 44 CCTTGTAATCCGTACAGAAGA 0.313000 32 102 0 0 1 0 0 MBD3 53615 broad.mit.edu 37 19 1585075 1585075 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:1585075G>A ENST00000590550.2 - 1 454 c.81C>T c.(79-81)taC>taT p.Y27Y MBD3_ENST00000592012.1_Silent_p.Y51Y|MBD3_ENST00000434436.3_Silent_p.Y83Y|MBD3_ENST00000156825.1_Silent_p.Y83Y|MBD3_ENST00000585967.1_5'UTR O95983 MBD3_HUMAN methyl-CpG binding domain protein 3 83 MBD. transcription, DNA-dependent NuRD complex DNA binding|protein binding central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 8 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18) TGGAGGAGTCGTAGCGCACGC 0.662000 16 40 0 0 1 0 0 SPATA6L 55064 broad.mit.edu 37 9 4625426 4625426 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:4625426A>G ENST00000454239.2 - 7 815 c.570T>C c.(568-570)taT>taC p.Y190Y SPATA6L_ENST00000381895.5_Silent_p.Y67Y|SPATA6L_ENST00000475086.1_Silent_p.Y132Y|SPATA6L_ENST00000223517.5_5'UTR|SPATA6L_ENST00000381890.5_Silent_p.Y204Y B4DIY4 B4DIY4_HUMAN spermatogenesis associated 6-like 132 GCCTGGTAGAATATTGAGAGG 0.428000 5 72 0 0 1 0 0 ZC3H3 23144 broad.mit.edu 37 8 144523233 144523233 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:144523233G>A ENST00000262577.5 - 10 2396 c.2365C>T c.(2365-2367)Cgc>Tgc p.R789C NM_015117.2 NP_055932.2 Q8IXZ2 ZC3H3_HUMAN zinc finger CCCH-type containing 3 789 mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus nucleus nucleic acid binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107) TGGGCGCCGCGGGGACACGCC 0.711000 7 18 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76491108 76491108 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:76491108T>C ENST00000389840.5 - 39 6057 c.5933A>G c.(5932-5934)gAa>gGa p.E1978G DNAH17_ENST00000585328.1_Missense_Mutation_p.E1987G|RP11-559N14.5_ENST00000591373.1_RNA dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) AAGGCGGGCTTCCAGAAAGCC 0.607000 3 23 0 0 1 0 0 CHD7 55636 broad.mit.edu 37 8 61778301 61778301 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:61778301G>A ENST00000423902.2 + 38 9282 c.8803G>A c.(8803-8805)Gaa>Aaa p.E2935K CHD7_ENST00000524602.1_Missense_Mutation_p.E886K NM_017780.3 NP_060250.2 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 2935 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) GGGCTCCAGCGAAGAAAAGGC 0.567000 27 86 0 0 1 0 0 FUK 197258 broad.mit.edu 37 16 70497604 70497604 + Missense_Mutation SNP T T A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:70497604T>A ENST00000288078.6 + 3 393 c.161T>A c.(160-162)gTg>gAg p.V54E FUK_ENST00000571514.1_Intron|FUK_ENST00000428974.2_Missense_Mutation_p.V54E|FUK_ENST00000378912.2_Missense_Mutation_p.V54E NM_145059.2 NP_659496.2 Q8N0W3 FUK_HUMAN fucokinase 54 cytoplasm ATP binding|fucokinase activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2) 23 Ovarian(137;0.0694) GAGAAGCGTGTGGGCAGCGGA 0.642000 27 61 0 0 1 0 0 RTTN 25914 broad.mit.edu 37 18 67812917 67812917 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr18:67812917A>G ENST00000255674.6 - 18 2698 c.2412T>C c.(2410-2412)gtT>gtC p.V804V RTTN_ENST00000437017.1_Silent_p.V804V|RTTN_ENST00000454359.1_Silent_p.V804V NM_173630.3 NP_775901.3 Q86VV8 RTTN_HUMAN rotatin 804 binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Esophageal squamous(42;0.129) ATAAATCAGTAACTCTGGAGA 0.398000 7 109 0 0 1 0 0 ITFG1 81533 broad.mit.edu 37 16 47494827 47494827 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:47494827C>T ENST00000320640.6 - 1 358 c.130G>A c.(130-132)Gcc>Acc p.A44T ITFG1_ENST00000544001.2_Intron NM_030790.3 NP_110417.2 Q8TB96 TIP_HUMAN integrin alpha FG-GAP repeat containing 1 44 extracellular region|integral to membrane breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 19 all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227) CAGGCCTCGGCCCCAAAGAGC 0.687000 8 18 0 0 1 0 0 TIMP2 7077 broad.mit.edu 37 17 76867073 76867073 + Missense_Mutation SNP C C G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:76867073C>G ENST00000262768.7 - 3 545 c.247G>C c.(247-249)Gag>Cag p.E83Q TIMP2_ENST00000586057.1_Missense_Mutation_p.E6Q|TIMP2_ENST00000585421.1_Missense_Mutation_p.E6Q|TIMP2_ENST00000536189.2_Missense_Mutation_p.E6Q NM_003255.4 NP_003246.1 P16035 TIMP2_HUMAN TIMP metallopeptidase inhibitor 2 83 NTR. metal ion binding|metalloendopeptidase inhibitor activity central_nervous_system(2) 2 BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.194) ATATCCTTCTCAGGCCCTTTG 0.532000 42 91 0 0 1 0 0 DGKE 8526 broad.mit.edu 37 17 54933949 54933949 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:54933949A>G ENST00000284061.3 + 8 1355 c.1175A>G c.(1174-1176)aAg>aGg p.K392R NM_003647.2 NP_003638.1 P52429 DGKE_HUMAN diacylglycerol kinase, epsilon 64kDa 392 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 25 Breast(9;3.59e-07) CATCGTGAGAAGGCACCATCT 0.373000 5 20 0 0 1 0 0 ACOT9 23597 broad.mit.edu 37 X 23723708 23723708 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chrX:23723708G>A ENST00000379303.5 - 13 1065 c.937C>T c.(937-939)Cgg>Tgg p.R313W ACOT9_ENST00000379295.1_Missense_Mutation_p.R244W|ACOT9_ENST00000336430.7_Missense_Mutation_p.R304W NM_001037171.1 NP_001032248.1 Q9Y305 ACOT9_HUMAN acyl-CoA thioesterase 9 304 acyl-CoA metabolic process mitochondrion acetyl-CoA hydrolase activity|carboxylesterase activity breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(4)|pancreas(1)|skin(1) 15 AAAATGTTCCGCTCCTACAGG 0.408000 50 56 0 0 1 0 0 OPN5 221391 broad.mit.edu 37 6 47779420 47779420 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:47779420G>A ENST00000489301.2 + 6 1094 c.1009G>A c.(1009-1011)Gta>Ata p.V337I OPN5_ENST00000371211.2_Missense_Mutation_p.V337I|OPN5_ENST00000244799.4_3'UTR|OPN5_ENST00000393699.2_Missense_Mutation_p.V337I Q6U736 OPN5_HUMAN opsin 5 337 phototransduction|protein-chromophore linkage|visual perception integral to membrane G-protein coupled receptor activity|photoreceptor activity endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 29 GCTGCACACCGTAACCACAGT 0.358000 16 61 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56470188 56470188 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:56470188T>C ENST00000370754.5 - 39 9138 c.9139A>G c.(9139-9141)Aat>Gat p.N3047D DST_ENST00000370769.4_Missense_Mutation_p.N2869D|DST_ENST00000312431.6_Missense_Mutation_p.N2869D|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000446842.2_Missense_Mutation_p.N2543D|DST_ENST00000361203.3_Missense_Mutation_p.N2869D|DST_ENST00000244364.6_Intron Q03001 DYST_HUMAN dystonin 2869 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TCCCTTGTATTTTTACCAGGC 0.338000 13 44 0 0 1 0 0 IGKV1-17 28937 broad.mit.edu 37 2 89416862 89416862 + RNA SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:89416862A>G ENST00000490686.1 - 0 348 AGACAGTAATAAGTTGCAAAA 0.517000 6 222 0 0 1 0 0 PAK3 5063 broad.mit.edu 37 X 110385398 110385398 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chrX:110385398T>C ENST00000519681.1 + 6 692 c.250T>C c.(250-252)Ttt>Ctt p.F84L PAK3_ENST00000360648.4_Missense_Mutation_p.F84L|PAK3_ENST00000372007.4_Missense_Mutation_p.F84L|PAK3_ENST00000425146.1_Missense_Mutation_p.F84L|PAK3_ENST00000262836.4_Missense_Mutation_p.F84L|PAK3_ENST00000372010.1_Missense_Mutation_p.F84L|PAK3_ENST00000446737.1_Missense_Mutation_p.F84L|PAK3_ENST00000417227.1_Missense_Mutation_p.F84L|PAK3_ENST00000518291.1_Missense_Mutation_p.F84L O75914 PAK3_HUMAN p21 protein (Cdc42/Rac)-activated kinase 3 84 Autoregulatory region (By similarity).|GTPase-binding (By similarity).|Linker. multicellular organismal development ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 TCATGTGGGGTTTGATGCAGT 0.393000 TSP Lung(19;0.15) 6 116 0 0 1 0 0 FAM174A 345757 broad.mit.edu 37 5 99871267 99871267 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:99871267C>T ENST00000312637.4 + 1 259 c.33C>T c.(31-33)agC>agT p.S11S NM_198507.1 NP_940909.1 Q8TBP5 F174A_HUMAN family with sequence similarity 174, member A 11 integral to membrane breast(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 GCTGTCTCAGCCACCTCTTGG 0.687000 5 188 0 0 1 0 0 PSMB3 5691 broad.mit.edu 37 17 36912171 36912171 + Missense_Mutation SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:36912171A>T ENST00000225426.4 + 3 315 c.224A>T c.(223-225)gAg>gTg p.E75V NM_002795.2 NP_002786.2 P49720 PSB3_HUMAN proteasome (prosome, macropain) subunit, beta type, 3 75 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex protein binding|threonine-type endopeptidase activity endometrium(2)|large_intestine(1)|lung(1) 4 AACCTGTATGAGTTGAAGGAA 0.478000 19 67 0 0 1 0 0 KIF21A 55605 broad.mit.edu 37 12 39735874 39735874 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:39735874T>C ENST00000395670.3 - 13 2184 c.1765A>G c.(1765-1767)Aag>Gag p.K589E KIF21A_ENST00000361418.5_Missense_Mutation_p.K589E|KIF21A_ENST00000541463.2_Missense_Mutation_p.K576E|KIF21A_ENST00000544797.2_Missense_Mutation_p.K576E|KIF21A_ENST00000361961.3_Missense_Mutation_p.K576E Q7Z4S6 KI21A_HUMAN kinesin family member 21A 589 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 86 Lung NSC(34;0.179)|all_lung(34;0.213) GAAACACCCTTTTCTTCTTTC 0.353000 5 28 0 0 1 0 0 KIAA0100 9703 broad.mit.edu 37 17 26962548 26962548 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:26962548A>G ENST00000528896.2 - 16 2131 c.2057T>C c.(2056-2058)cTa>cCa p.L686P RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000389003.3_Missense_Mutation_p.L543P|KIAA0100_ENST00000544884.1_Missense_Mutation_p.L543P NM_014680.3 NP_055495.2 Q14667 K0100_HUMAN KIAA0100 686 extracellular region breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3) 68 Lung NSC(42;0.00431) TCGGCACTGTAGAGTGGCCAG 0.527000 35 69 0 0 1 0 0 PI15 51050 broad.mit.edu 37 8 75761352 75761352 + Splice_Site SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:75761352G>T ENST00000260113.2 + 6 820 c.e6-1 RP11-758M4.4_ENST00000522914.1_RNA|RP11-758M4.4_ENST00000518128.1_RNA|RP11-758M4.4_ENST00000523860.1_RNA|PI15_ENST00000523773.1_Splice_Site NM_015886.3 NP_056970.1 O43692 PI15_HUMAN peptidase inhibitor 15 extracellular region peptidase inhibitor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1) 30 Breast(64;0.137) BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118) TTCCCTTCTAGGGGCAATTGG 0.393000 37 142 3.61848e-18 3.80755e-18 1 1 0 PROKR2 128674 broad.mit.edu 37 20 5294896 5294896 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:5294896A>G ENST00000546004.1 - 2 366 c.120T>C c.(118-120)gaT>gaC p.D40D PROKR2_ENST00000217270.3_Silent_p.D40D Q8NFJ6 PKR2_HUMAN prokineticin receptor 2 40 integral to membrane|plasma membrane neuropeptide Y receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 53 TCATGTCCTCATCCTCATCCA 0.507000 HNSCC(71;0.22) 43 118 0 0 1 0 0 TTLL1 25809 broad.mit.edu 37 22 43460219 43460219 + Silent SNP C C T rs144960440 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr22:43460219C>T ENST00000331018.7 - 6 855 c.615G>A c.(613-615)acG>acA p.T205T TTLL1_ENST00000266254.7_Silent_p.T205T O95922 TTLL1_HUMAN tubulin tyrosine ligase-like family, member 1 205 TTL. protein polyglutamylation cytoplasm|microtubule ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1) 23 Ovarian(80;0.0694) BRCA - Breast invasive adenocarcinoma(115;0.00461) GTGGACGGTACGTGGACACCA 0.458000 15 70 0 0 1 0 0 KIAA0408 9729 broad.mit.edu 37 6 127765263 127765263 + Missense_Mutation SNP C C G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:127765263C>G ENST00000483725.3 - 6 2412 c.2076G>C c.(2074-2076)ttG>ttC p.L692F SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR NM_014702.4 NP_055517.3 Q6ZU52 K0408_HUMAN KIAA0408 692 protein binding endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1) 28 GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13) CTTAAACCATCAATGCTTCGG 0.493000 14 44 0 0 1 0 0 DAAM1 23002 broad.mit.edu 37 14 59797293 59797293 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:59797293A>G ENST00000395125.1 + 12 1470 c.1447A>G c.(1447-1449)Atg>Gtg p.M483V DAAM1_ENST00000351081.1_Missense_Mutation_p.M483V|DAAM1_ENST00000360909.3_Missense_Mutation_p.M483V NM_014992.2 NP_055807.1 Q9Y4D1 DAAM1_HUMAN dishevelled associated activator of morphogenesis 1 483 actin cytoskeleton organization cytoplasm|plasma membrane actin binding|Rho GTPase binding breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(108;0.165) GAAGGAAGAGATGATGCAGAC 0.423000 7 73 0 0 1 0 0 PCNT 5116 broad.mit.edu 37 21 47769663 47769663 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr21:47769663T>C ENST00000359568.5 + 8 1380 c.1273T>C c.(1273-1275)Tcc>Ccc p.S425P PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 425 Glu-rich. cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) AGACCTGCAGTCCGAGCACGG 0.473000 6 146 0 0 1 0 0 RBM39 9584 broad.mit.edu 37 20 34302199 34302199 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:34302199G>A ENST00000361162.6 - 11 1388 c.1004C>T c.(1003-1005)gCt>gTt p.A335V RBM39_ENST00000528062.3_Missense_Mutation_p.A313V|RBM39_ENST00000407261.4_Missense_Mutation_p.A178V|RBM39_ENST00000253363.6_Missense_Mutation_p.A335V NM_004902.3|NM_184234.2 NP_004893.1|NP_909122.1 Q14498 RBM39_HUMAN RNA binding motif protein 39 335 Activating domain (By similarity).|Interaction with JUN (By similarity). mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent centrosome|nuclear speck nucleotide binding|protein binding|RNA binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676) AAATGAACTAGCACTCGAAGC 0.418000 41 79 0 0 1 0 0 MAGI1 9223 broad.mit.edu 37 3 65342171 65342171 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:65342171G>A ENST00000402939.2 - 23 4270 c.4271C>T c.(4270-4272)gCc>gTc p.A1424V MAGI1_ENST00000330909.8_3'UTR NM_001033057.1 NP_001028229.1 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 1 1453 cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) TCGGTGGCTGGCTCTGTCCTC 0.622000 30 120 0 0 1 0 0 TUBA3C 7278 broad.mit.edu 37 13 19753567 19753567 + Missense_Mutation SNP T T A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr13:19753567T>A ENST00000400113.3 - 2 244 c.140A>T c.(139-141)gAc>gTc p.D47V NM_006001.2 NP_005992.1 Q13748 TBA3C_HUMAN tubulin, alpha 3c 47 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1) 72 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108) GTTGAAGGAGTCGTCCCCACC 0.562000 42 131 0 0 1 0 0 AGPAT6 137964 broad.mit.edu 37 8 41467252 41467252 + Missense_Mutation SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:41467252A>T ENST00000396987.3 + 4 1241 c.314A>T c.(313-315)gAc>gTc p.D105V RP11-360L9.8_ENST00000581909.1_RNA NM_178819.3 NP_848934.1 Q86UL3 GPAT4_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 6 105 acyl-CoA metabolic process|lactation|phosphatidylcholine biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|membrane fraction glycerol-3-phosphate O-acyltransferase activity endometrium(3)|kidney(2)|large_intestine(3)|lung(6) 14 Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211) all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844) OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147) AAGGCTCTGGACAACACTCCA 0.438000 10 172 0 0 1 0 0 TTC23 64927 broad.mit.edu 37 15 99678261 99678261 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:99678261T>C ENST00000394132.2 - 14 2115 c.1298A>G c.(1297-1299)cAg>cGg p.Q433R TTC23_ENST00000558613.1_Missense_Mutation_p.Q433R|TTC23_ENST00000558663.1_Missense_Mutation_p.Q433R|TTC23_ENST00000394136.1_Missense_Mutation_p.Q433R|TTC23_ENST00000262074.4_Missense_Mutation_p.Q433R|TTC23_ENST00000394135.3_Missense_Mutation_p.Q433R Q5W5X9 TTC23_HUMAN tetratricopeptide repeat domain 23 433 binding endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2) 16 all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215) CAGGGTGTCCTGAGGGATGCT 0.612000 12 50 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179402611 179402611 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:179402611T>C ENST00000589042.1 - 355 99547 c.99323A>G c.(99322-99324)aAg>aGg p.K33108R TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K24043R|TTN_ENST00000342992.6_Missense_Mutation_p.K30540R|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K31467R|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K24168R|TTN_ENST00000342175.6_Missense_Mutation_p.K24235R|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 31467 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity 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) GGTAACATCCTTCATTTCTTT 0.398000 5 29 0 0 1 0 0 PTPN11 5781 broad.mit.edu 37 12 112919948 112919948 + Missense_Mutation SNP T T G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:112919948T>G ENST00000351677.2 + 10 1361 c.1163T>G c.(1162-1164)gTc>gGc p.V388G PTPN11_ENST00000392597.1_Missense_Mutation_p.V388G NM_002834.3 NP_002825.3 Q06124 PTN11_HUMAN protein tyrosine phosphatase, non-receptor type 11 388 Tyrosine-protein phosphatase. axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway cytosol non-membrane spanning protein tyrosine phosphatase activity|protein binding NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3) 451 GTTAGGAACGTCAAAGAAAGC 0.383000 Mis """JMML, AML, MDS""" Noonan Syndrome Noonan syndrome 4 145 0 0 1 0 0 PKD1 5310 broad.mit.edu 37 16 2164521 2164521 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:2164521G>A ENST00000262304.4 - 11 2711 c.2503C>T c.(2503-2505)Cgc>Tgc p.R835C PKD1_ENST00000423118.1_Missense_Mutation_p.R835C NM_001009944.2 NP_001009944.2 P98161 PKD1_HUMAN polycystic kidney disease 1 (autosomal dominant) 835 calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 ACGTAGAGGCGGCCGTCGCGG 0.692000 11 19 0 0 1 0 0 MACC1 346389 broad.mit.edu 37 7 20198531 20198531 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:20198531A>G ENST00000400331.5 - 5 1761 c.1453T>C c.(1453-1455)Ttt>Ctt p.F485L MACC1_ENST00000332878.4_Missense_Mutation_p.F485L|MACC1_ENST00000589011.1_Missense_Mutation_p.F485L NM_182762.3 NP_877439.3 Q6ZN28 MACC1_HUMAN metastasis associated in colon cancer 1 485 positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane growth factor activity endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1) 39 TGAACACAAAAATCAAACAAG 0.398000 32 87 0 0 1 0 0 MIER3 166968 broad.mit.edu 37 5 56219085 56219085 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:56219085T>C ENST00000381226.3 - 13 1553 c.1538A>G c.(1537-1539)cAc>cGc p.H513R MIER3_ENST00000381199.3_Missense_Mutation_p.H508R|MIER3_ENST00000381213.3_Missense_Mutation_p.H507R|MIER3_ENST00000409421.1_Missense_Mutation_p.H445R|SETD9_ENST00000541720.1_Intron Q7Z3K6 MIER3_HUMAN mesoderm induction early response 1, family member 3 508 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(2)|urinary_tract(1) 19 Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223) OV - Ovarian serous cystadenocarcinoma(10;1.24e-37) GTGATGTGTGTGATTTTCAAA 0.453000 4 98 0 0 1 0 0 SPESP1 246777 broad.mit.edu 37 15 69238372 69238372 + Nonsense_Mutation SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:69238372G>T ENST00000310673.3 + 2 653 c.499G>T c.(499-501)Gaa>Taa p.E167* NOX5_ENST00000260364.5_Intron|NOX5_ENST00000448182.3_Intron|SPESP1_ENST00000560188.1_3'UTR|RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000455873.3_Intron NM_145658.3 NP_663633.1 Q6UW49 SPESP_HUMAN sperm equatorial segment protein 1 167 multicellular organismal development acrosomal vesicle breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1) 19 AGTTGTTACTGAATCATCTAC 0.448000 23 133 1.10513e-12 1.15186e-12 1 1 0 SEPN1 57190 broad.mit.edu 37 1 26136267 26136267 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:26136267C>T ENST00000361547.2 + 7 1021 c.966C>T c.(964-966)gaC>gaT p.D322D SEPN1_ENST00000374315.1_Silent_p.D288D|SEPN1_ENST00000354177.4_Silent_p.D288D NM_020451.2 NP_065184.2 Q9NZV5 SELN_HUMAN selenoprotein N, 1 322 endoplasmic reticulum membrane|extracellular region protein binding p.D322D(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 19 Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505) UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649) TCTCCAAAGACGCCACCCACG 0.632000 42 131 0 0 1 0 0 DYNLL2 140735 broad.mit.edu 37 17 56164482 56164482 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:56164482G>A ENST00000240343.6 + 2 309 c.31G>A c.(31-33)Gca>Aca p.A11T NM_080677.2 NP_542408.1 Q96FJ2 DYL2_HUMAN dynein, light chain, LC8-type 2 11 activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|microtubule-based process|transport centrosome|cytosol|dynein complex|microtubule|myosin complex|plasma membrane motor activity lung(3) 3 GATCAAGAACGCAGACATGTC 0.502000 13 45 0 0 1 0 0 ABCC2 1244 broad.mit.edu 37 10 101611293 101611293 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:101611293T>C ENST00000370449.4 + 32 4656 c.4543T>C c.(4543-4545)Tgc>Cgc p.C1515R NM_000392.3 NP_000383.1 Q92887 MRP2_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 2 1515 ABC transporter 2. C -> Y (in dbSNP:rs8187710). apical plasma membrane|integral to plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 67 Colorectal(252;0.234) Epithelial(162;2.77e-10)|all cancers(201;2.47e-08) Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) GATTATAGAGTGCGGCAGCCC 0.413000 6 146 0 0 1 0 0 ISLR 3671 broad.mit.edu 37 15 74467666 74467666 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:74467666A>G ENST00000249842.3 + 2 824 c.467A>G c.(466-468)aAc>aGc p.N156S ISLR_ENST00000395118.1_Missense_Mutation_p.N156S|RP11-665J16.1_ENST00000561647.1_RNA NM_005545.3 NP_005536.1 O14498 ISLR_HUMAN immunoglobulin superfamily containing leucine-rich repeat 156 cell adhesion extracellular region central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1) 20 CTCAACCACAACCGCTTGCAC 0.632000 19 46 0 0 1 0 0 FERMT1 55612 broad.mit.edu 37 20 6077679 6077679 + Splice_Site SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:6077679T>C ENST00000217289.4 - 8 1747 c.957_splice c.e8-1 p.Y320_splice FERMT1_ENST00000536936.1_Splice_Site_p.Y63_splice NM_017671.4 NP_060141.3 Q9BQL6 FERM1_HUMAN fermitin family member 1 320 FERM. cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation cytosol|focal adhesion|ruffle membrane binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2) 17 GCTAATGTGGTACTAAAATGA 0.358000 26 235 0 0 1 0 0 ATXN1 6310 broad.mit.edu 37 6 16326726 16326726 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:16326726T>C ENST00000244769.4 - 8 2752 c.1816A>G c.(1816-1818)Aac>Gac p.N606D ATXN1_ENST00000436367.1_Missense_Mutation_p.N606D NM_000332.3 NP_000323.2 P54253 ATX1_HUMAN ataxin 1 606 AXH.|Interaction with USP7.|RNA-binding. cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2) 44 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) TTCAGGTCGTTGCTTATCTCT 0.532000 7 113 0 0 1 0 0 CBX6 23466 broad.mit.edu 37 22 39262787 39262787 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr22:39262787T>C ENST00000407418.3 - 5 789 c.666A>G c.(664-666)acA>acG p.T222T CBX6_ENST00000216083.6_Silent_p.T204T O95503 CBX6_HUMAN chromobox homolog 6 222 chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent PcG protein complex large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 6 Melanoma(58;0.04) GGCGGATCTGTGTACGCAGGA 0.701000 22 105 0 0 1 0 0 SLC45A2 51151 broad.mit.edu 37 5 33944930 33944930 + Missense_Mutation SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:33944930C>A ENST00000296589.4 - 7 1562 c.1416G>T c.(1414-1416)aaG>aaT p.K472N SLC45A2_ENST00000342059.3_Missense_Mutation_p.K413N NM_016180.3 NP_057264.3 Q9UMX9 S45A2_HUMAN solute carrier family 45, member 2 472 melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception integral to membrane|melanosome membrane breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 AGTCCATGCCCTTCCCTCTCA 0.597000 9 33 5.4927e-09 5.66993e-09 1 1 0 TJAP1 93643 broad.mit.edu 37 6 43473043 43473043 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:43473043T>C ENST00000372444.2 + 11 1527 c.1094T>C c.(1093-1095)gTg>gCg p.V365A TJAP1_ENST00000483640.1_3'UTR|TJAP1_ENST00000438588.2_Missense_Mutation_p.V375A|TJAP1_ENST00000259751.1_Missense_Mutation_p.V365A|TJAP1_ENST00000372445.5_Missense_Mutation_p.V375A|TJAP1_ENST00000372449.1_Missense_Mutation_p.V375A|TJAP1_ENST00000372452.1_Missense_Mutation_p.V365A|TJAP1_ENST00000436109.2_Missense_Mutation_p.V365A NM_001146018.1 NP_001139490.1 Q5JTD0 TJAP1_HUMAN tight junction associated protein 1 (peripheral) 375 Golgi apparatus|tight junction protein binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2) 21 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) cccagcccagtgcccagcacc 0.687000 15 37 0 0 1 0 0 DHX16 8449 broad.mit.edu 37 6 30633512 30633512 + Splice_Site SNP T T A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:30633512T>A ENST00000376442.3 - 5 862 c.e5-2 NM_001164239.1|NM_003587.4 NP_001157711.1|NP_003578.2 O60231 DHX16_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 16 mRNA processing|RNA splicing nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity kidney(2)|ovary(2) 4 CTCAGGGACCTGAGTTGGGAA 0.562000 22 67 0 0 1 0 0 TGFBR2 7048 broad.mit.edu 37 3 30713872 30713872 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:30713872G>A ENST00000295754.5 + 4 1579 c.1197G>A c.(1195-1197)ggG>ggA p.G399G TGFBR2_ENST00000359013.4_Silent_p.G424G NM_003242.5 NP_003233.4 P37173 TGFR2_HUMAN transforming growth factor, beta receptor II (70/80kDa) 399 Protein kinase. activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis caveola|external side of plasma membrane ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2) 53 GTGACTTTGGGCTTTCCCTGC 0.552000 7 401 0 0 1 0 0 ZNF641 121274 broad.mit.edu 37 12 48737414 48737414 + Missense_Mutation SNP G G A rs144784236 by1000genomes TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:48737414G>A ENST00000544117.2 - 6 1367 c.659C>T c.(658-660)cCg>cTg p.P220L ZNF641_ENST00000301042.3_Missense_Mutation_p.P220L|ZNF641_ENST00000547026.1_Missense_Mutation_p.P206L|ZNF641_ENST00000448928.3_Missense_Mutation_p.P197L Q96N77 ZN641_HUMAN zinc finger protein 641 220 Transactivation. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 12 ATCATGCTCCGGGTTCCAGAG 0.522000 25 26 0 0 1 0 0 TCOF1 6949 broad.mit.edu 37 5 149769567 149769567 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:149769567A>G ENST00000451292.1 + 20 3383 c.3275A>G c.(3274-3276)cAg>cGg p.Q1092R TCOF1_ENST00000504761.2_Missense_Mutation_p.Q1055R|TCOF1_ENST00000439160.2_Missense_Mutation_p.Q1055R|TCOF1_ENST00000377797.3_Missense_Mutation_p.Q1055R|TCOF1_ENST00000445265.2_Missense_Mutation_p.Q978R|TCOF1_ENST00000323668.7_Missense_Mutation_p.Q978R|TCOF1_ENST00000513346.1_Missense_Mutation_p.Q1092R Q13428 TCOF_HUMAN Treacher Collins-Franceschetti syndrome 1 1055 skeletal system development nucleolus protein binding|transporter activity NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 35 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GGCAAGAAACAGGAGGGACCA 0.597000 12 30 0 0 1 0 0 KL 9365 broad.mit.edu 37 13 33635745 33635745 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr13:33635745T>C ENST00000380099.3 + 4 2537 c.2529T>C c.(2527-2529)agT>agC p.S843S KL_ENST00000487852.1_3'UTR NM_004795.3 NP_004786.2 Q9UEF7 KLOT_HUMAN klotho 843 Glycosyl hydrolase-1 2. aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5) 41 all_epithelial(80;0.133) Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05) ACTCCCCCAGTCAGGTGGCGG 0.478000 5 137 0 0 1 0 0 TCHH 7062 broad.mit.edu 37 1 152082725 152082725 + Missense_Mutation SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:152082725A>T ENST00000368804.1 - 2 2967 c.2968T>A c.(2968-2970)Tac>Aac p.Y990N NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 990 10 X 30 AA tandem repeats. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) tcctcgcggtattttttctcc 0.562000 9 216 0 0 1 0 0 ZNF610 162963 broad.mit.edu 37 19 52869218 52869218 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:52869218A>G ENST00000601151.1 + 5 910 c.458A>G c.(457-459)tAc>tGc p.Y153C ZNF610_ENST00000327920.8_Missense_Mutation_p.Y196C|ZNF610_ENST00000321287.8_Missense_Mutation_p.Y196C|ZNF610_ENST00000403906.3_Missense_Mutation_p.Y196C NM_001161427.1 NP_001154899.1 Q8N9Z0 ZN610_HUMAN zinc finger protein 610 196 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2) 34 OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434) GAGAAAGCATACATTAGAGGA 0.328000 10 85 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237921019 237921019 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:237921019A>G ENST00000366574.2 + 82 11585 c.11268A>G c.(11266-11268)gcA>gcG p.A3756A RYR2_ENST00000360064.6_Silent_p.A3762A|RYR2_ENST00000542537.1_Silent_p.A3740A NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 3756 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CAATGGTAGCAGCTACTCTGA 0.368000 16 74 0 0 1 0 0 TMEM67 91147 broad.mit.edu 37 8 94797542 94797542 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:94797542A>G ENST00000453321.3 + 12 1282 c.1224A>G c.(1222-1224)caA>caG p.Q408Q TMEM67_ENST00000409623.3_Silent_p.Q327Q NM_153704.5 NP_714915.3 Q5HYA8 MKS3_HUMAN transmembrane protein 67 408 cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body unfolded protein binding breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1) 41 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.00896) ATCAACATCAATATATTTTGG 0.338000 5 239 0 0 1 0 0 RP11-252A24.2 0 broad.mit.edu 37 16 74372644 74372644 + RNA SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:74372644A>G ENST00000429810.2 - 0 1552 TACCCTTGTCAGGGGGAACAA 0.443000 6 55 0 0 1 0 0 PTPN13 5783 broad.mit.edu 37 4 87679894 87679894 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:87679894T>C ENST00000436978.1 + 22 3857 c.3377T>C c.(3376-3378)gTt>gCt p.V1126A PTPN13_ENST00000511467.1_Missense_Mutation_p.V1126A|PTPN13_ENST00000316707.6_Missense_Mutation_p.V935A|PTPN13_ENST00000411767.2_Missense_Mutation_p.V1126A|PTPN13_ENST00000427191.2_Missense_Mutation_p.V1107A NM_080683.2|NM_080685.2 NP_542414.1|NP_542416.1 Q12923 PTN13_HUMAN protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) 1126 PDZ 1. cytoplasm|cytoskeleton|plasma membrane protein binding|protein tyrosine phosphatase activity NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00082) ATCAGTTCAGTTGCCCCTGGA 0.378000 34 107 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228475447 228475447 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:228475447T>C ENST00000570156.2 + 41 10958 c.10884T>C c.(10882-10884)ggT>ggC p.G3628G OBSCN_ENST00000366707.4_Silent_p.G318G|OBSCN_ENST00000284548.11_Silent_p.G3199G|OBSCN_ENST00000359599.6_Silent_p.G2046G|OBSCN_ENST00000422127.1_Silent_p.G3199G|OBSCN_ENST00000366709.4_Silent_p.G318G NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 2661 Ig-like 37. 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) TGCTGGAGGGTGGTGCTGCCA 0.627000 13 52 0 0 1 0 0 RAPH1 65059 broad.mit.edu 37 2 204309667 204309667 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:204309667A>G ENST00000319170.5 - 13 1999 c.1700T>C c.(1699-1701)gTc>gCc p.V567A RAPH1_ENST00000457812.1_Missense_Mutation_p.V567A|RAPH1_ENST00000453034.1_Missense_Mutation_p.V619A|RAPH1_ENST00000439222.1_Missense_Mutation_p.V592A|RAPH1_ENST00000419464.1_Missense_Mutation_p.V567A|RAPH1_ENST00000374488.2_Missense_Mutation_p.V592A|RAPH1_ENST00000374493.3_Missense_Mutation_p.V619A|RAPH1_ENST00000418114.1_Missense_Mutation_p.V567A|RAPH1_ENST00000308091.4_Missense_Mutation_p.V619A|RAPH1_ENST00000423104.1_Missense_Mutation_p.V594A|RAPH1_ENST00000374489.2_Missense_Mutation_p.V594A NM_213589.1 NP_998754.1 Q70E73 RAPH1_HUMAN Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 567 cell-matrix adhesion|signal transduction cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 CTGGGAACGGACGTGTCCTGC 0.443000 35 113 0 0 1 0 0 DUOX2 50506 broad.mit.edu 37 15 45401114 45401114 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:45401114T>C ENST00000389039.6 - 12 1656 c.1271A>G c.(1270-1272)gAc>gGc p.D424G DUOX2_ENST00000603300.1_Missense_Mutation_p.D424G Q9NRD8 DUOX2_HUMAN dual oxidase 2 424 Peroxidase-like; mediates peroxidase activity (By similarity). cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 63 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) GGCCACATAGTCTGTACGGGA 0.562000 20 51 0 0 1 0 0 CCDC88B 283234 broad.mit.edu 37 11 64109585 64109585 + Silent SNP T T A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:64109585T>A ENST00000356786.5 + 8 839 c.795T>A c.(793-795)gcT>gcA p.A265A CCDC88B_ENST00000463837.1_3'UTR NM_032251.5 NP_115627.6 A6NC98 CC88B_HUMAN coiled-coil domain containing 88B 265 microtubule cytoskeleton organization cytoplasm microtubule binding endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 ACGCCAAGGCTCAGCTGCGGC 0.677000 10 17 0 0 1 0 0 KIAA1429 25962 broad.mit.edu 37 8 95508100 95508100 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:95508100T>C ENST00000297591.5 - 19 4478 c.4403A>G c.(4402-4404)gAc>gGc p.D1468G KIAA1429_ENST00000437199.1_3'UTR NM_015496.4 NP_056311.2 Q69YN4 VIR_HUMAN KIAA1429 1468 mRNA processing|RNA splicing nucleus NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) ATCCAGATTGTCATCATCTTT 0.408000 28 93 0 0 1 0 0 DNAH1 25981 broad.mit.edu 37 3 52416439 52416439 + Missense_Mutation SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:52416439C>A ENST00000420323.2 + 50 8170 c.7909C>A c.(7909-7911)Cta>Ata p.L2637I NM_015512.4 NP_056327.4 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 2637 AAA 4 (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CCTACAGAACCTACCCATCAC 0.577000 8 274 3.09899e-07 3.1815e-07 1 1 0 CEP170B 283638 broad.mit.edu 37 14 105353441 105353441 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:105353441C>T ENST00000453495.1 + 12 3096 c.2868C>T c.(2866-2868)gaC>gaT p.D956D CEP170B_ENST00000418279.1_Silent_p.D885D|CEP170B_ENST00000414716.3_Silent_p.D955D|CEP170B_ENST00000556508.1_Silent_p.D885D centrosomal protein 170B GGGACTCGGACGTGGACACAG 0.692000 18 73 0 0 1 0 0 SPATA7 55812 broad.mit.edu 37 14 88904243 88904243 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:88904243A>G ENST00000556553.1 + 12 1740 c.1181A>G c.(1180-1182)aAc>aGc p.N394S SPATA7_ENST00000045347.7_Missense_Mutation_p.N426S|SPATA7_ENST00000393545.4_Missense_Mutation_p.N426S|SPATA7_ENST00000356583.5_Missense_Mutation_p.N394S Q9P0W8 SPAT7_HUMAN spermatogenesis associated 7 426 response to stimulus|visual perception cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1) 18 TCGGAGGAAAACTCGGTAAAG 0.348000 6 94 0 0 1 0 0 KANK3 256949 broad.mit.edu 37 19 8389336 8389336 + Silent SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:8389336G>T ENST00000330915.3 - 10 2444 c.2379C>A c.(2377-2379)acC>acA p.T793T KANK3_ENST00000593649.1_Silent_p.T793T NM_198471.2 NP_940873.2 Q6NY19 KANK3_HUMAN KN motif and ankyrin repeat domains 3 793 breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1) 9 TGCTCACCTGGGTGTCGGGCT 0.587000 7 11 2.0095e-06 2.05926e-06 1 1 0 RHBDF1 64285 broad.mit.edu 37 16 108407 108407 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:108407A>G ENST00000262316.6 - 18 2642 c.2500T>C c.(2500-2502)Ttc>Ctc p.F834L NM_022450.3 NP_071895.3 Q96CC6 RHDF1_HUMAN rhomboid 5 homolog 1 (Drosophila) 834 cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane growth factor binding|serine-type endopeptidase activity breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 18 all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159) CAGGTGAGGAACTCACACCAC 0.592000 16 214 0 0 1 0 0 GLE1 2733 broad.mit.edu 37 9 131287588 131287588 + Nonsense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:131287588C>T ENST00000309971.4 + 7 1121 c.1015C>T c.(1015-1017)Cag>Tag p.Q339* GLE1_ENST00000539582.1_Nonsense_Mutation_p.Q85*|GLE1_ENST00000372770.4_Nonsense_Mutation_p.Q339*|GLE1_ENST00000494417.1_3'UTR NM_001003722.1 NP_001003722.1 Q53GS7 GLE1_HUMAN GLE1 RNA export mediator 339 poly(A)+ mRNA export from nucleus|protein transport|transmembrane transport cytoplasm|nuclear pore protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1) 16 CAAGAGGAGGCAGGATGAAGA 0.612000 8 46 0 0 1 0 0 AGBL4 84871 broad.mit.edu 37 1 49056597 49056597 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:49056597T>C ENST00000371839.1 - 10 1128 c.1012A>G c.(1012-1014)Atg>Gtg p.M338V AGBL4_ENST00000334103.7_Missense_Mutation_p.M71V NM_032785.3 NP_116174.3 Q5VU57 CBPC6_HUMAN ATP/GTP binding protein-like 4 338 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1) 15 Colorectal(2;0.00349)|COAD - Colon adenocarcinoma(2;0.0037) TTGCCATACATGAAGCCATTC 0.463000 3 17 0 0 1 0 0 SFXN1 94081 broad.mit.edu 37 5 174940534 174940534 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:174940534C>T ENST00000321442.5 + 7 919 c.665C>T c.(664-666)gCg>gTg p.A222V NM_022754.5 NP_073591.2 Q9H9B4 SFXN1_HUMAN sideroflexin 1 222 iron ion homeostasis integral to membrane cation transmembrane transporter activity|protein binding endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(3) 15 all_cancers(89;0.00922)|Renal(175;0.000269)|Lung NSC(126;0.00515)|all_lung(126;0.00873) Medulloblastoma(196;0.0399)|all_neural(177;0.0663) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) GCGAACGCTGCGAAACAAGCC 0.517000 11 57 0 0 1 0 0 PCDHA6 56142 broad.mit.edu 37 5 140209817 140209817 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:140209817C>T ENST00000529310.1 + 1 2255 c.2141C>T c.(2140-2142)aCg>aTg p.T714M PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron NM_018909.2|NM_031848.1|NM_031849.1 NP_061732.1|NP_114036.1|NP_114037.1 p.T714M(2) NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGGTCCTCACGCTACTGCTG 0.706000 5 176 0 0 1 0 0 TAF7 6879 broad.mit.edu 37 5 140698689 140698689 + Missense_Mutation SNP T T A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:140698689T>A ENST00000313368.5 - 1 1641 c.923A>T c.(922-924)aAa>aTa p.K308I NM_005642.2 NP_005633.2 Q15545 TAF7_HUMAN TAF7 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 55kDa 308 negative regulation of histone acetylation|negative regulation of protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|spermine transport|transcription initiation from RNA polymerase II promoter Golgi apparatus|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex histone acetyltransferase binding|thyroid hormone receptor binding|transcription coactivator activity|transcription regulatory region DNA binding|vitamin D receptor binding central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1) 12 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATTTTCCACTTTCATGATGAG 0.453000 3 29 0 0 1 0 0 EIF4G1 1981 broad.mit.edu 37 3 184038716 184038716 + Splice_Site SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:184038716C>T ENST00000342981.4 + 8 1046 c.630_splice c.e8-1 p.T211_splice EIF4G1_ENST00000382330.3_Splice_Site_p.T218_splice|EIF4G1_ENST00000435046.2_Splice_Site_p.T15_splice|EIF4G1_ENST00000411531.1_Splice_Site_p.T171_splice|EIF4G1_ENST00000346169.2_Splice_Site_p.T211_splice|EIF4G1_ENST00000392537.2_Splice_Site_p.T124_splice|EIF4G1_ENST00000352767.3_Splice_Site_p.T218_splice|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000424196.1_Splice_Site_p.T218_splice|EIF4G1_ENST00000434061.2_Splice_Site_p.T15_splice|EIF4G1_ENST00000441154.1_Splice_Site_p.T47_splice|EIF4G1_ENST00000427845.1_Splice_Site_p.T124_splice|EIF4G1_ENST00000319274.6_Splice_Site_p.T211_splice|EIF4G1_ENST00000350481.5_Splice_Site_p.T47_splice|EIF4G1_ENST00000414031.1_Splice_Site_p.T171_splice NM_182917.4 NP_886553.3 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 gamma, 1 211 insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 75 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GTCCTGCAGACGGGAGGCGGT 0.532000 13 32 0 0 1 0 0 LRRC36 55282 broad.mit.edu 37 16 67381419 67381419 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:67381419G>A ENST00000329956.6 + 4 432 c.413G>A c.(412-414)gGt>gAt p.G138D LRRC36_ENST00000290940.7_5'UTR|LRRC36_ENST00000541146.1_5'UTR|LRRC36_ENST00000563189.1_Missense_Mutation_p.G17D|LRRC36_ENST00000563303.1_3'UTR|LRRC36_ENST00000435835.3_Missense_Mutation_p.G17D NM_018296.5 NP_060766.5 Q1X8D7 LRC36_HUMAN leucine rich repeat containing 36 138 LRRCT. endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 24 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161) GTACGTGAAGGTGAGAGAAAA 0.368000 4 81 0 0 1 0 0 COL11A2 1302 broad.mit.edu 37 6 33139529 33139529 + Silent SNP C C T rs146093235 byFrequency TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:33139529C>T ENST00000341947.2 - 42 3338 c.3111G>A c.(3109-3111)ccG>ccA p.P1037P COL11A2_ENST00000374708.4_Silent_p.P951P|COL11A2_ENST00000374712.1_Silent_p.P956P|COL11A2_ENST00000395197.1_Silent_p.P977P|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000357486.1_Silent_p.P1016P|COL11A2_ENST00000361917.1_Silent_p.P930P|COL11A2_ENST00000374714.1_Silent_p.P1011P|COL11A2_ENST00000374713.1_Silent_p.P990P NM_080680.2 NP_542411.2 P13942 COBA2_HUMAN collagen, type XI, alpha 2 1037 Triple-helical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 GGGGACCCTGCGGGCCTGGGC 0.657000 16 35 0 0 1 0 0 CELSR2 1952 broad.mit.edu 37 1 109793467 109793467 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:109793467G>A ENST00000271332.3 + 1 827 c.766G>A c.(766-768)Gtc>Atc p.V256I NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 256 Cadherin 1. dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) GAGCACCCACGTCTTCAGGGT 0.582000 33 67 0 0 1 0 0 SHPRH 257218 broad.mit.edu 37 6 146247394 146247394 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:146247394T>C ENST00000367503.3 - 16 3665 c.3267A>G c.(3265-3267)atA>atG p.I1089M SHPRH_ENST00000367505.2_Missense_Mutation_p.I1080M|SHPRH_ENST00000275233.7_Missense_Mutation_p.I1080M|SHPRH_ENST00000438092.2_Missense_Mutation_p.I1089M NM_001042683.2 NP_001036148.2 Q149N8 SHPRH_HUMAN SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase 1080 DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1) 79 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) GGTGCCTGGCTATCAACAATT 0.388000 29 96 0 0 1 0 0 PRSS27 83886 broad.mit.edu 37 16 2765775 2765775 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:2765775G>A ENST00000302641.3 - 3 234 c.180C>T c.(178-180)tgC>tgT p.C60C NM_031948.3 NP_114154.1 Q9BQR3 PRS27_HUMAN protease, serine 27 60 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1) 8 GGCTGCCCCCGCAGAAGTGGC 0.697000 4 19 0 0 1 0 0 ATAD2 29028 broad.mit.edu 37 8 124359353 124359353 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:124359353T>C ENST00000287394.5 - 16 2298 c.2191A>G c.(2191-2193)Aca>Gca p.T731A ATAD2_ENST00000521903.1_Missense_Mutation_p.T49A NM_014109.3 NP_054828.2 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 731 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 48 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) GTTTTATTTGTTCTGAATTCT 0.353000 16 95 0 0 1 0 0 NPEPPS 9520 broad.mit.edu 37 17 45689927 45689927 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:45689927G>A ENST00000322157.4 + 18 2434 c.2197G>A c.(2197-2199)Gtg>Atg p.V733M RP11-580I16.2_ENST00000582389.1_RNA|RP11-580I16.2_ENST00000582066.1_RNA|NPEPPS_ENST00000530173.1_Missense_Mutation_p.V729M|NPEPPS_ENST00000544660.1_Missense_Mutation_p.V653M NM_006310.3 NP_006301.3 P55786 PSA_HUMAN aminopeptidase puromycin sensitive 733 proteolysis cytosol|nucleus aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 27 TAAGGACCACGTGGAAGGAAA 0.458000 22 52 0 0 1 0 0 CDC25C 995 broad.mit.edu 37 5 137666820 137666820 + Nonsense_Mutation SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:137666820G>T ENST00000323760.6 - 2 328 c.50C>A c.(49-51)tCa>tAa p.S17* CDC25C_ENST00000415130.2_Nonsense_Mutation_p.S17*|CDC25C_ENST00000357274.3_Nonsense_Mutation_p.S17*|CDC25C_ENST00000356505.3_Nonsense_Mutation_p.S17*|CDC25C_ENST00000348983.3_Nonsense_Mutation_p.S17*|CDC25C_ENST00000514555.1_Nonsense_Mutation_p.S17*|CDC25C_ENST00000513970.1_Nonsense_Mutation_p.S17* NM_001790.3 NP_001781.2 P30307 MPIP3_HUMAN cell division cycle 25C 17 cell cycle checkpoint|cell division|cell proliferation|DNA replication|G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle cytosol|nucleoplasm protein tyrosine phosphatase activity|WW domain binding endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1) 16 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) ACTGGGTCCTGAGCCAGAGCT 0.463000 41 78 1.48646e-12 1.5486e-12 1 1 0 SLC52A2 79581 broad.mit.edu 37 8 145584251 145584251 + Splice_Site SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:145584251T>C ENST00000532887.1 + 4 1586 c.1001_splice c.e4-1 p.S335_splice SLC52A2_ENST00000329994.2_Splice_Site_p.S335_splice|SLC52A2_ENST00000540505.1_Splice_Site_p.S247_splice|SLC52A2_ENST00000527078.1_Splice_Site_p.S335_splice|SLC52A2_ENST00000402965.1_Splice_Site_p.S335_splice|SLC52A2_ENST00000526752.1_Intron|SLC52A2_ENST00000530047.1_Splice_Site_p.S335_splice Q9HAB3 RFT3_HUMAN solute carrier family 52 (riboflavin transporter), member 2 335 integral to plasma membrane receptor activity|riboflavin transporter activity TCACTGCAGGTCCTTGGCAGG 0.687000 45 141 0 0 1 0 0 TBC1D29 26083 broad.mit.edu 37 17 28890430 28890430 + Missense_Mutation SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:28890430G>T ENST00000580161.1 + 6 2937 c.440G>T c.(439-441)aGg>aTg p.R147M TBC1D29_ENST00000584297.1_3'UTR|TBC1D29_ENST00000579181.1_Missense_Mutation_p.R147M Q9UFV1 TBC29_HUMAN TBC1 domain family, member 29 147 intracellular Rab GTPase activator activity breast(1)|kidney(1)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 Myeloproliferative disorder(56;0.0255) agatgtggcaggataataggg 0.483000 6 18 0.00116845 0.00118101 1 1 0 TAF9 6880 broad.mit.edu 37 5 68662584 68662584 + Translation_Start_Site SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:68662584T>C ENST00000506736.1 - 0 64 TAF9_ENST00000380818.3_Intron|TAF9_ENST00000502819.1_Intron|TAF9_ENST00000380822.4_Intron|TAF9_ENST00000217893.5_Intron|TAF9_ENST00000328663.4_Intron|TAF9_ENST00000512561.1_Intron Q9Y3D8 KAD6_HUMAN TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa Cajal body adenylate kinase activity|ATP binding|protein binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1) 8 Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176) TTAGCAATCATATGTAAAAtt 0.433000 4 4 0 0 1 0 0 ABCA4 24 broad.mit.edu 37 1 94496004 94496004 + Nonsense_Mutation SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:94496004G>T ENST00000370225.3 - 29 4418 c.4332C>A c.(4330-4332)tgC>tgA p.C1444* NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 1444 phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) CTTCCTTCAGGCAGCGGTTGC 0.567000 5 85 0.00116845 0.00118101 1 1 0 C10orf71 118461 broad.mit.edu 37 10 50531538 50531538 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:50531538T>C ENST00000374144.3 + 3 1236 c.948T>C c.(946-948)tgT>tgC p.C316C C10orf71_ENST00000323868.4_Silent_p.C316C Q711Q0 CJ071_HUMAN chromosome 10 open reading frame 71 316 endometrium(1) 1 GAGAACCCTGTCCTCCTGAGC 0.572000 4 44 0 0 1 0 0 NCOA2 10499 broad.mit.edu 37 8 71053559 71053559 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:71053559A>G ENST00000452400.2 - 14 3069 c.2888T>C c.(2887-2889)gTc>gCc p.V963A NCOA2_ENST00000267974.4_Missense_Mutation_p.V51A NM_006540.2 NP_006531.1 Q15596 NCOA2_HUMAN nuclear receptor coactivator 2 963 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity PAX3/NCOA2(4)|HEY1/NCOA2(10) NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4) 60 Breast(64;0.201) Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606) AGCACAGGTGACTCTCACAGC 0.562000 T """RUNXBP2, HEY1""" """AML, Chondrosarcoma""" 13 54 0 0 1 0 0 HSP90B1 7184 broad.mit.edu 37 12 104327925 104327925 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:104327925C>T ENST00000299767.5 + 5 785 c.603C>T c.(601-603)tcC>tcT p.S201S NM_003299.1 NP_003290.1 P14625 ENPL_HUMAN heat shock protein 90kDa beta (Grp94), member 1 201 actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4) 29 Rifabutin(DB00615) GTTTCTATTCCGCCTTCCTTG 0.423000 18 100 0 0 1 0 0 CASR 846 broad.mit.edu 37 3 122003904 122003904 + Missense_Mutation SNP C C G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:122003904C>G ENST00000498619.1 + 7 3571 c.3133C>G c.(3133-3135)Cct>Gct p.P1045A CASR_ENST00000296154.5_Missense_Mutation_p.P1035A|CASR_ENST00000490131.1_Missense_Mutation_p.P1035A NM_001178065.1 NP_001171536.1 P41180 CASR_HUMAN calcium-sensing receptor 1035 anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) TCTGCAAGGACCTGTGGGTGG 0.577000 28 85 0 0 1 0 0 POLRMT 5442 broad.mit.edu 37 19 619641 619641 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:619641T>C ENST00000588649.2 - 13 3095 c.3011A>G c.(3010-3012)tAt>tGt p.Y1004C NM_005035.3 NP_005026.3 O00411 RPOM_HUMAN polymerase (RNA) mitochondrial (DNA directed) 1004 Mediates interaction with TEFM. transcription initiation from mitochondrial promoter mitochondrial nucleoid DNA binding|DNA-directed RNA polymerase activity|protein binding cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1) 20 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) 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) GCGCCCGCCATAGCGCGTGAC 0.647000 66 163 0 0 1 0 0 TRPV5 56302 broad.mit.edu 37 7 142627452 142627452 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:142627452C>T ENST00000265310.1 - 2 566 c.218G>A c.(217-219)cGa>cAa p.R73Q TRPV5_ENST00000442623.1_Missense_Mutation_p.R73Q NM_019841.4 NP_062815.2 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, subfamily V, member 5 73 protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 67 Melanoma(164;0.059) ACCTCTTTGTCGAACGTCACA 0.512000 29 94 0 0 1 0 0 OPRK1 4986 broad.mit.edu 37 8 54147381 54147381 + Nonsense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:54147381C>T ENST00000265572.3 - 3 845 c.548G>A c.(547-549)tGg>tAg p.W183* OPRK1_ENST00000520287.1_Nonsense_Mutation_p.W183*|OPRK1_ENST00000524278.1_Nonsense_Mutation_p.W94*|RP11-162D9.3_ENST00000524425.1_RNA NM_000912.3 NP_000903.2 P41145 OPRK_HUMAN opioid receptor, kappa 1 183 behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication integral to plasma membrane kappa-opioid receptor activity|protein binding NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1) 43 all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136) Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193) CGACAGCAGCCAGATGCAGAT 0.493000 26 127 0 0 1 0 0 KLHL22 84861 broad.mit.edu 37 22 20796591 20796591 + Missense_Mutation SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr22:20796591G>T ENST00000328879.4 - 7 1830 c.1674C>A c.(1672-1674)agC>agA p.S558R KLHL22_ENST00000440659.2_Missense_Mutation_p.S415R NM_032775.3 NP_116164.2 Q53GT1 KLH22_HUMAN kelch-like family member 22 558 cell division Cul3-RING ubiquitin ligase complex breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1) 20 Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) AGCCTGTGCGGCTGCCGCGGT 0.612000 18 54 0.00121646 0.00122927 1 1 0 MYCN 4613 broad.mit.edu 37 2 16082735 16082735 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:16082735C>T ENST00000281043.3 + 2 846 c.549C>T c.(547-549)gcC>gcT p.A183A NM_005378.4 NP_005369.2 P04198 MYCN_HUMAN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog 183 regulation of transcription from RNA polymerase II promoter chromatin|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 31 all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197) GBM - Glioblastoma multiforme(3;0.000332) CCCACCCGGCCGCCGAGTGCG 0.831000 A neuroblastoma 4 3 0 0 1 0 0 LDLRAD4 753 broad.mit.edu 37 18 13645592 13645592 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr18:13645592A>G ENST00000361205.4 + 7 1525 c.857A>G c.(856-858)aAc>aGc p.N286S LDLRAD4_ENST00000592991.1_Missense_Mutation_p.N188S|RP11-701H16.4_ENST00000588397.1_RNA|LDLRAD4_ENST00000587757.1_Missense_Mutation_p.N249S|LDLRAD4_ENST00000586765.1_Missense_Mutation_p.N231S|LDLRAD4_ENST00000585931.1_Missense_Mutation_p.N209S|LDLRAD4_ENST00000359446.5_Missense_Mutation_p.N286S|LDLRAD4_ENST00000399848.3_Missense_Mutation_p.N268S NM_001276249.1|NM_181481.3 NP_001263178.1|NP_852146.1 low density lipoprotein receptor class A domain containing 4 TTTCAGCAGAACAATGCAGAG 0.547000 24 57 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40366395 40366395 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:40366395G>A ENST00000221347.6 - 30 13846 c.13839C>T c.(13837-13839)tgC>tgT p.C4613C NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 4613 VWFD 11. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) TGTAGTTCCCGCATAAGCCAC 0.677000 41 114 0 0 1 0 0 KIAA0930 23313 broad.mit.edu 37 22 45601193 45601193 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr22:45601193A>G ENST00000336156.4 - 5 486 c.421T>C c.(421-423)Ttc>Ctc p.F141L KIAA0930_ENST00000251993.7_Missense_Mutation_p.F146L|KIAA0930_ENST00000391627.2_Missense_Mutation_p.F107L|KIAA0930_ENST00000443310.3_Missense_Mutation_p.F123L NM_001009880.1 NP_001009880.1 Q6ICG6 K0930_HUMAN KIAA0930 141 protein binding endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1) 15 GGGGACGCGAACACTTGCTGG 0.582000 4 75 0 0 1 0 0 RERG 85004 broad.mit.edu 37 12 15262345 15262345 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:15262345T>C ENST00000256953.2 - 5 635 c.299A>G c.(298-300)aAc>aGc p.N100S RERG_ENST00000546331.1_Missense_Mutation_p.N81S|RERG_ENST00000536465.1_Missense_Mutation_p.N100S|RERG_ENST00000538313.1_Missense_Mutation_p.N100S NM_032918.2 NP_116307.1 Q96A58 RERG_HUMAN RAS-like, estrogen-regulated, growth inhibitor 100 negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction cytosol|membrane|nucleus estrogen receptor binding|GDP binding|GTP binding|GTPase activity NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 16 ATCTAGGATGTTCTTAAGTGG 0.493000 113 454 0 0 1 0 0 NCK2 8440 broad.mit.edu 37 2 106497991 106497991 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:106497991G>A ENST00000233154.4 + 4 876 c.434G>A c.(433-435)aGc>aAc p.S145N NCK2_ENST00000522586.1_Intron|NCK2_ENST00000393349.2_Missense_Mutation_p.S145N|NCK2_ENST00000451463.2_Intron NM_003581.4 NP_003572.2 O43639 NCK2_HUMAN NCK adaptor protein 2 145 SH3 2. axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation cytosol|endoplasmic reticulum cytoskeletal adaptor activity|receptor signaling complex scaffold activity endometrium(1)|lung(3)|ovary(1) 5 GAGAAGTGCAGCGACGGTTGG 0.642000 24 58 0 0 1 0 0 HDLBP 3069 broad.mit.edu 37 2 242174626 242174626 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:242174626G>A ENST00000391975.1 - 23 3281 c.3054C>T c.(3052-3054)atC>atT p.I1018I HDLBP_ENST00000310931.4_Silent_p.I1018I|HDLBP_ENST00000391976.2_Silent_p.I1018I|HDLBP_ENST00000427183.2_Silent_p.I985I NM_203346.3 NP_976221.1 Q00341 VIGLN_HUMAN high density lipoprotein binding protein 1018 KH 12. cholesterol metabolic process|lipid transport cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane lipid binding|protein binding|RNA binding breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928) CCGTGATGGCGATGATGTCAG 0.597000 4 133 0 0 1 0 0 NLRP9 338321 broad.mit.edu 37 19 56244391 56244391 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:56244391G>A ENST00000332836.2 - 2 833 c.806C>T c.(805-807)tCc>tTc p.S269F NM_176820.2 NP_789790.2 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 269 NACHT. cytoplasm ATP binding NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3) 74 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) AAGGAGAGAGGATTCTGGAAG 0.408000 11 69 0 0 1 0 0 NAT8 9027 broad.mit.edu 37 2 73868455 73868455 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:73868455A>G ENST00000272425.3 - 2 450 c.301T>C c.(301-303)Tac>Cac p.Y101H NM_003960.3|NM_016347.2 NP_003951.3|NP_057431.2 Q9UHE5 NAT8_HUMAN N-acetyltransferase 8 (GCN5-related, putative) 101 N-acetyltransferase. gastrulation with mouth forming second|response to drug integral to membrane N-acetyltransferase activity breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1) 9 TCACTCAGGTAGGATTTGGTA 0.537000 36 162 0 0 1 0 0 PAK1 5058 broad.mit.edu 37 11 77048409 77048409 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:77048409A>G ENST00000356341.3 - 12 1707 c.1176T>C c.(1174-1176)agT>agC p.S392S PAK1_ENST00000528203.1_Silent_p.S294S|PAK1_ENST00000525542.1_5'UTR|PAK1_ENST00000530617.1_Silent_p.S392S|PAK1_ENST00000278568.4_Silent_p.S392S NM_002576.4 NP_002567.3 Q13153 PAK1_HUMAN p21 protein (Cdc42/Rac)-activated kinase 1 392 Protein kinase. apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway cytosol|focal adhesion|Golgi apparatus ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1) 29 all_cancers(14;1.75e-18) GAATATTGTCACTCTTGATGT 0.478000 7 22 0 0 1 0 0 LNX2 222484 broad.mit.edu 37 13 28127463 28127463 + Missense_Mutation SNP C C G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr13:28127463C>G ENST00000316334.3 - 8 1789 c.1660G>C c.(1660-1662)Gag>Cag p.E554Q NM_153371.3 NP_699202.1 Q8N448 LNX2_HUMAN ligand of numb-protein X 2 554 PDZ 3. zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 31 Lung SC(185;0.0156) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248) ATCTGGACCTCAAGTGCTTTA 0.502000 35 79 0 0 1 0 0 HERC2 8924 broad.mit.edu 37 15 28369194 28369194 + Missense_Mutation SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:28369194A>T ENST00000261609.7 - 85 13285 c.13177T>A c.(13177-13179)Tcc>Acc p.S4393T NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 4393 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) TTTCCCTGGGATATCAGAATT 0.498000 OREG0022996 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 67 0 0 1 0 0 SCAF11 9169 broad.mit.edu 37 12 46316747 46316747 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:46316747G>A ENST00000465950.1 - 3 4361 c.3152C>T c.(3151-3153)gCc>gTc p.A1051V SCAF11_ENST00000369367.3_Missense_Mutation_p.A1366V|SCAF11_ENST00000550629.1_5'UTR|SCAF11_ENST00000549162.1_Missense_Mutation_p.A1174V|SCAF11_ENST00000419565.2_Missense_Mutation_p.A1366V Q99590 SCAFB_HUMAN SR-related CTD-associated factor 11 1366 spliceosome assembly nucleus protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 69 ATCTGCGCTGGCTTCCACTGC 0.408000 25 208 0 0 1 0 0 HIRA 7290 broad.mit.edu 37 22 19373150 19373150 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr22:19373150T>C ENST00000263208.5 - 12 1479 c.1223A>G c.(1222-1224)cAg>cGg p.Q408R HIRA_ENST00000340170.4_Missense_Mutation_p.Q408R|HIRA_ENST00000546308.1_Missense_Mutation_p.Q364R|HIRA_ENST00000541063.1_Missense_Mutation_p.Q364R NM_003325.3 NP_003316.3 P54198 HIRA_HUMAN histone cell cycle regulator 408 Poly-Gln. chromatin modification|regulation of transcription from RNA polymerase II promoter PML body chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1) 37 Colorectal(54;0.0993) CTGCTGCTGCTGCCTTCGCTG 0.587000 17 48 0 0 1 0 0 POP1 10940 broad.mit.edu 37 8 99158845 99158845 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:99158845T>C ENST00000401707.2 + 12 1725 c.1644T>C c.(1642-1644)tgT>tgC p.C548C POP1_ENST00000349693.3_Silent_p.C548C NM_001145860.1|NM_001145861.1 NP_001139332.1|NP_001139333.1 Q99575 POP1_HUMAN processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) 548 tRNA 5'-leader removal|tRNA catabolic process nucleolar ribonuclease P complex|ribonuclease MRP complex identical protein binding|ribonuclease MRP activity|ribonuclease P activity autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 Breast(36;1.78e-06) OV - Ovarian serous cystadenocarcinoma(57;0.145) CTGTGGAATGTACGCATAGCT 0.398000 59 171 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32029986 32029986 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:32029986G>A ENST00000375244.3 - 20 7317 c.7116C>T c.(7114-7116)taC>taT p.Y2372Y TNXB_ENST00000375247.2_Silent_p.Y2372Y P22105 TENX_HUMAN tenascin XB 2434 Fibronectin type-III 16. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 CGTGGAAGCCGTACAGGTTCA 0.642000 13 52 0 0 1 0 0 FABP1 2168 broad.mit.edu 37 2 88422623 88422623 + Splice_Site SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:88422623T>C ENST00000295834.3 - 4 432 c.333_splice c.e4-1 p.T112_splice FABP1_ENST00000495375.1_5'UTR|FABP1_ENST00000393750.3_3'UTR NM_001443.2 NP_001434.1 P07148 FABPL_HUMAN fatty acid binding protein 1, liver 112 organ morphogenesis kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1) 6 AATGTCATGGTCTGAAAGCCA 0.284000 20 50 0 0 1 0 0 ATP5G3 518 broad.mit.edu 37 2 176043862 176043862 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:176043862A>G ENST00000284727.4 - 4 3261 c.237T>C c.(235-237)ggT>ggC p.G79G ATP5G3_ENST00000409194.1_Silent_p.G79G|ATP5G3_ENST00000392541.3_Silent_p.G79G NM_001002258.4|NM_001689.4 NP_001002258.1|NP_001680.1 P48201 AT5G3_HUMAN ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C3 (subunit 9) 79 ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o) hydrogen ion transmembrane transporter activity|lipid binding|protein binding large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 5 OV - Ovarian serous cystadenocarcinoma(117;0.147) CTGTTGCAGCACCTGCACCAA 0.463000 10 61 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100678670 100678670 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:100678670A>G ENST00000306151.4 + 3 4037 c.3973A>G c.(3973-3975)Acc>Gcc p.T1325A NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1325 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) TGCTGAAGGTACCAGCATGCC 0.463000 15 669 0 0 1 0 0 WAC 51322 broad.mit.edu 37 10 28824585 28824585 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:28824585T>C ENST00000375664.3 + 3 647 c.38T>C c.(37-39)aTg>aCg p.M13T WAC_ENST00000375646.1_Missense_Mutation_p.M13T|WAC_ENST00000428935.1_Missense_Mutation_p.M13T|WAC_ENST00000347934.4_Missense_Mutation_p.M58T|WAC_ENST00000354911.4_Missense_Mutation_p.M58T|WAC_ENST00000532233.1_3'UTR Q9BTA9 WAC_HUMAN WW domain containing adaptor with coiled-coil 58 cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nuclear speck chromatin binding|RNA polymerase II core binding NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1) 32 CCAAATAAAATGTTGCGGAGA 0.453000 29 77 0 0 1 0 0 RAD23B 5887 broad.mit.edu 37 9 110087223 110087223 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:110087223G>A ENST00000358015.3 + 9 1405 c.1054G>A c.(1054-1056)Gct>Act p.A352T RAD23B_ENST00000416373.2_Missense_Mutation_p.A280T NM_001244713.1|NM_002874.4 NP_001231642.1|NP_002865.1 P54727 RD23B_HUMAN RAD23 homolog B (S. cerevisiae) 352 nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process cytoplasm|nucleoplasm|proteasome complex|XPC complex damaged DNA binding|polyubiquitin binding|single-stranded DNA binding breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 AATTGCAGAAGCTGGAAGTGG 0.408000 Direct reversal of damage;Nucleotide excision repair (NER) 6 69 0 0 1 0 0 FAM69B 138311 broad.mit.edu 37 9 139617613 139617613 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:139617613T>C ENST00000371691.1 + 3 1521 c.422T>C c.(421-423)cTc>cCc p.L141P SNHG7_ENST00000414282.1_RNA|FAM69B_ENST00000371692.4_Missense_Mutation_p.L228P Q5VUD6 FA69B_HUMAN family with sequence similarity 69, member B 228 endoplasmic reticulum membrane|integral to membrane NS(1)|endometrium(3)|large_intestine(2)|lung(1)|prostate(1) 8 all_cancers(76;0.0882)|all_epithelial(76;0.228) Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013) TGTGGGGACCTCTACCTCACC 0.687000 45 117 0 0 1 0 0 PICALM 8301 broad.mit.edu 37 11 85701438 85701438 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:85701438A>G ENST00000393346.3 - 13 1411 c.1263T>C c.(1261-1263)ccT>ccC p.P421P PICALM_ENST00000528398.1_Intron|PICALM_ENST00000526033.1_Intron|PICALM_ENST00000356360.5_Silent_p.P421P|PICALM_ENST00000532317.1_Intron Q13492 PICAL_HUMAN phosphatidylinositol binding clathrin assembly protein 421 clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane 1-phosphatidylinositol binding|clathrin heavy chain binding endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 19 Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092) TAGCAGAGAAAGGATCTGTGC 0.343000 T """MLLT10, MLL""" """TALL, AML, """ 22 54 0 0 1 0 0 ARHGAP32 9743 broad.mit.edu 37 11 128839216 128839216 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:128839216T>C ENST00000310343.9 - 22 5849 c.5850A>G c.(5848-5850)cgA>cgG p.R1950R ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000527272.1_Silent_p.R1601R|ARHGAP32_ENST00000392657.3_Silent_p.R1601R NM_001142685.1 NP_001136157.1 A7KAX9 RHG32_HUMAN Rho GTPase activating protein 32 1950 Interaction with FYN. cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3) 60 TAACCCAGGGTCGCTCCATCT 0.512000 8 151 0 0 1 0 0 ZNF75A 7627 broad.mit.edu 37 16 3367268 3367268 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:3367268T>C ENST00000574298.1 + 6 763 c.290T>C c.(289-291)gTc>gCc p.V97A ZNF75A_ENST00000498240.2_3'UTR NM_153028.2 NP_694573.1 Q96N20 ZN75A_HUMAN zinc finger protein 75a 97 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|large_intestine(3)|lung(7)|prostate(1) 12 TCAGCAGGCGTCATATCAAAA 0.388000 8 110 0 0 1 0 0 CLPX 10845 broad.mit.edu 37 15 65449183 65449183 + Splice_Site SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:65449183T>C ENST00000300107.3 - 9 1333 c.1146_splice c.e9+1 p.Q382_splice NM_006660.3 NP_006651.2 O76031 CLPX_HUMAN caseinolytic mitochondrial matrix peptidase chaperone subunit 382 protein folding|proteolysis involved in cellular protein catabolic process mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2) 16 ACTGCTTACTTGCTGAACGCC 0.393000 5 61 0 0 1 0 0 HECTD4 283450 broad.mit.edu 37 12 112622580 112622580 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:112622580C>T ENST00000550722.1 - 61 10147 c.9752G>A c.(9751-9753)cGc>cAc p.R3251H HECTD4_ENST00000430131.2_Missense_Mutation_p.R2975H|HECTD4_ENST00000377560.5_Missense_Mutation_p.R3225H NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 CACCAGCAAGCGGCTGTGGGC 0.697000 54 206 0 0 1 0 0 BMP5 653 broad.mit.edu 37 6 55739318 55739318 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:55739318A>G ENST00000370830.3 - 1 1044 c.346T>C c.(346-348)Tac>Cac p.Y116H BMP5_ENST00000446683.2_Missense_Mutation_p.Y116H NM_021073.2 NP_066551.1 P22003 BMP5_HUMAN bone morphogenetic protein 5 116 cartilage development|cell differentiation|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 45 Lung NSC(77;0.0462) LUSC - Lung squamous cell carcinoma(124;0.181) GAGGCTGGGTATCCCTTTCTT 0.522000 9 132 0 0 1 0 0 ABHD11 83451 broad.mit.edu 37 7 73151274 73151274 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:73151274T>C ENST00000222800.3 - 5 869 c.800A>G c.(799-801)aAc>aGc p.N267S ABHD11_ENST00000458339.1_Intron|ABHD11_ENST00000395147.4_Missense_Mutation_p.N210S|ABHD11_ENST00000437775.2_Missense_Mutation_p.N260S NM_148912.2 NP_683710.1 Q8NFV4 ABHDB_HUMAN abhydrolase domain containing 11 267 hydrolase activity breast(1)|endometrium(1)|large_intestine(1)|lung(1) 4 Lung NSC(55;0.0908)|all_lung(88;0.198) GAACTGGGAGTTTCCACCAAG 0.592000 4 257 0 0 1 0 0 SLCO1C1 53919 broad.mit.edu 37 12 20854395 20854395 + Splice_Site SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:20854395T>C ENST00000381552.1 + 3 639 c.e3+2 SLCO1C1_ENST00000545604.1_Splice_Site|SLCO1C1_ENST00000540354.1_Splice_Site|SLCO1C1_ENST00000266509.2_Splice_Site|SLCO1C1_ENST00000545102.1_Intron Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, member 1C1 sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 60 Esophageal squamous(101;0.149) TTGAAATTGGTAGGTATTACA 0.418000 30 135 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25312960 25312960 + RNA SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:25312960A>G ENST00000549804.2 + 0 538 SNHG14_ENST00000551077.1_RNA|SNORD116-7_ENST00000384404.1_RNA CCCCCATAAAAACATTCCTTG 0.498000 9 148 0 0 1 0 0 FGR 2268 broad.mit.edu 37 1 27941035 27941035 + Silent SNP T T C rs143532619 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:27941035T>C ENST00000374005.3 - 11 1443 c.1155A>G c.(1153-1155)gcA>gcG p.A385A FGR_ENST00000374004.1_Silent_p.A385A|FGR_ENST00000545953.1_Silent_p.A319A|FGR_ENST00000399173.1_Silent_p.A385A NM_005248.2 NP_005239.1 P09769 FGR_HUMAN feline Gardner-Rasheed sarcoma viral oncogene homolog 385 Protein kinase. platelet activation|response to virus cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4) 16 all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) GGATGTTGGCTGCCCTCAGGT 0.592000 4 19 0 0 1 0 0 CELSR2 1952 broad.mit.edu 37 1 109814242 109814242 + Silent SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:109814242C>A ENST00000271332.3 + 28 7885 c.7824C>A c.(7822-7824)tcC>tcA p.S2608S CELSR2_ENST00000498157.1_3'UTR NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 2608 dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) TCTTCCTCTCCTATGTGGTGC 0.612000 5 155 0.184627 0.184914 1 1 0 BID 637 broad.mit.edu 37 22 18226677 18226677 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr22:18226677C>T ENST00000317361.7 - 3 579 c.253G>A c.(253-255)Gca>Aca p.A85T BID_ENST00000399767.1_5'UTR|BID_ENST00000399765.1_Intron|BID_ENST00000399774.3_Missense_Mutation_p.A39T|BID_ENST00000473439.1_5'UTR|BID_ENST00000342111.5_Missense_Mutation_p.A39T|BID_ENST00000551952.1_Missense_Mutation_p.A39T NM_197966.2 NP_932070.1 P55957 BID_HUMAN BH3 interacting domain death agonist 39 activation of pro-apoptotic gene products|establishment of protein localization in membrane|induction of apoptosis by intracellular signals|induction of apoptosis via death domain receptors|neuron apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria|release of cytochrome c from mitochondria cytosol|membrane fraction|mitochondrial outer membrane death receptor binding large_intestine(2)|ovary(1) 3 all_epithelial(15;0.198) Lung(27;0.0419) TGGCCCAGTGCGTCCAGCTCT 0.587000 37 94 0 0 1 0 0 CTNNA2 1496 broad.mit.edu 37 2 80136806 80136806 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:80136806C>T ENST00000466387.1 + 11 1663 c.939C>T c.(937-939)ggC>ggT p.G313G CTNNA2_ENST00000541047.1_Silent_p.G313G|CTNNA2_ENST00000496558.1_Silent_p.G313G|CTNNA2_ENST00000540488.1_Silent_p.G313G|CTNNA2_ENST00000361291.4_Silent_p.G347G|CTNNA2_ENST00000402739.4_Silent_p.G313G P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 313 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 TCATCAGCGGCGCAGCGCTGA 0.637000 39 120 0 0 1 0 0 DBX1 120237 broad.mit.edu 37 11 20181531 20181531 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:20181531C>T ENST00000524983.2 - 1 628 c.340G>A c.(340-342)Gcc>Acc p.A114T DBX1_ENST00000227256.3_Missense_Mutation_p.A114T A6NMT0 DBX1_HUMAN developing brain homeobox 1 114 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2) 21 GAGAGGATGGCGTTCACTCCA 0.647000 12 25 0 0 1 0 0 IFT140 9742 broad.mit.edu 37 16 1574554 1574554 + Splice_Site SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:1574554T>C ENST00000426508.2 - 24 3503 c.3141_splice c.e24+1 p.K1047_splice IFT140_ENST00000361339.5_Splice_Site_p.K241_splice NM_014714.3 NP_055529.2 Q96RY7 IF140_HUMAN intraflagellar transport 140 homolog (Chlamydomonas) 1047 breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1) 53 Hepatocellular(780;0.219) CCGTGGTACCTTGCACAGGCG 0.632000 25 53 0 0 1 0 0 NPSR1 387129 broad.mit.edu 37 7 34818098 34818098 + Missense_Mutation SNP T T A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:34818098T>A ENST00000360581.1 + 3 433 c.305T>A c.(304-306)aTc>aAc p.I102N NPSR1_ENST00000381553.3_Missense_Mutation_p.I102N|NPSR1_ENST00000381539.3_Missense_Mutation_p.I102N|NPSR1_ENST00000381542.1_Intron|NPSR1_ENST00000531252.1_Intron|NPSR1_ENST00000359791.1_Missense_Mutation_p.I102N NM_207172.1 NP_997055.1 Q6W5P4 NPSR1_HUMAN neuropeptide S receptor 1 102 cytoplasm|integral to membrane|plasma membrane vasopressin receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7) 31 Halothane(DB01159) CTGGTCAACATCTTGACAGAT 0.403000 11 43 0 0 1 0 0 MCF2L 23263 broad.mit.edu 37 13 113729502 113729502 + Splice_Site SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr13:113729502C>T ENST00000397030.1 + 11 1443 c.1407_splice c.e11+1 p.T469_splice MCF2L_ENST00000434480.2_Splice_Site_p.T442_splice|MCF2L_ENST00000375601.3_Splice_Site_p.T440_splice|MCF2L_ENST00000375608.3_Splice_Site_p.T466_splice|MCF2L_ENST00000375604.2_Splice_Site_p.T493_splice|MCF2L_ENST00000442652.2_Splice_Site_p.T466_splice|MCF2L_ENST00000423482.2_Splice_Site_p.T434_splice|MCF2L_ENST00000421756.1_Splice_Site_p.T440_splice|MCF2L_ENST00000375597.4_Splice_Site_p.T434_splice|MCF2L_ENST00000535094.2_Splice_Site_p.T436_splice O15068 MCF2L_HUMAN MCF.2 cell line derived transforming sequence-like 466 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane Rho guanyl-nucleotide exchange factor activity kidney(1)|large_intestine(5)|ovary(1)|stomach(1) 8 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188) CGCCTGGAGACGGTAGGCCGA 0.687000 4 29 0 0 1 0 0 THSD7A 221981 broad.mit.edu 37 7 11581241 11581241 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:11581241G>A ENST00000423059.3 - 6 1878 c.1627C>T c.(1627-1629)Cgg>Tgg p.R543W NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 543 TSP type-1 5. integral to membrane NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) GTAATGCGCCGCTTCCTCAGT 0.448000 HNSCC(18;0.044) 9 35 0 0 1 0 0 TMEM65 157378 broad.mit.edu 37 8 125334372 125334372 + Missense_Mutation SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:125334372A>T ENST00000297632.6 - 5 1023 c.489T>A c.(487-489)aaT>aaA p.N163K NM_194291.2 NP_919267.2 Q6PI78 TMM65_HUMAN transmembrane protein 65 163 integral to membrane cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1) 6 Lung NSC(37;1.18e-11)|Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) CTGACACAAGATTTCCCAAAG 0.313000 30 93 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21939016 21939016 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:21939016C>T ENST00000328843.6 + 81 13164 c.13133C>T c.(13132-13134)cCg>cTg p.P4378L DNAH11_ENST00000409508.3_Missense_Mutation_p.P4371L Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 4378 microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 CTTACCCTTCCGGCTGTCGTG 0.537000 Kartagener syndrome 10 226 0 0 1 0 0 PCDHB4 56131 broad.mit.edu 37 5 140502502 140502502 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:140502502T>C ENST00000194152.1 + 1 922 c.922T>C c.(922-924)Ttc>Ctc p.F308L NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 308 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AAAATTGGATTTCGAAAAAAT 0.363000 17 233 0 0 1 0 0 ELOVL3 83401 broad.mit.edu 37 10 103986316 103986316 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:103986316C>T ENST00000370005.3 + 1 232 c.11C>T c.(10-12)gCc>gTc p.A4V NM_152310.1 NP_689523.1 Q9HB03 ELOV3_HUMAN ELOVL fatty acid elongase 3 4 fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane fatty acid elongase activity|protein binding breast(2)|lung(10)|ovary(2)|prostate(1)|skin(1) 16 Colorectal(252;0.207) Epithelial(162;4.47e-08)|all cancers(201;7.96e-07) ATGGTCACAGCCATGAATGTC 0.527000 11 93 0 0 1 0 0 RGPD8 727851 broad.mit.edu 37 2 113127775 113127775 + Missense_Mutation SNP G G C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:113127775G>C ENST00000302558.3 - 23 5469 c.5278C>G c.(5278-5280)Cct>Gct p.P1760A RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A NM_001164463.1 NP_001157935.1 RANBP2-like and GRIP domain containing 8 p.P1760A(12) endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1) 10 GAACGGGAAGGATTTTCTTCC 0.308000 4 68 0 0 1 0 0 MGME1 92667 broad.mit.edu 37 20 17968909 17968909 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:17968909G>A ENST00000377710.5 + 4 1120 c.832G>A c.(832-834)Gcc>Acc p.A278T MGME1_ENST00000377704.4_Intron|MGME1_ENST00000467391.1_3'UTR|MGME1_ENST00000377709.1_Missense_Mutation_p.A198T NM_052865.2 NP_443097.1 mitochondrial genome maintenance exonuclease 1 ATACATGGGTGCCATGAACCA 0.443000 28 44 0 0 1 0 0 SF1 7536 broad.mit.edu 37 11 64536983 64536983 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:64536983C>T ENST00000377390.3 - 6 915 c.578G>A c.(577-579)gGc>gAc p.G193D SF1_ENST00000422298.2_Missense_Mutation_p.G78D|SF1_ENST00000227503.9_Missense_Mutation_p.G193D|SF1_ENST00000377387.1_Missense_Mutation_p.G318D|SF1_ENST00000377394.3_Missense_Mutation_p.G193D|SF1_ENST00000489544.1_5'UTR|SF1_ENST00000433274.2_Missense_Mutation_p.G167D|SF1_ENST00000334944.5_Missense_Mutation_p.G193D NM_004630.3 NP_004621.2 Q15637 SF01_HUMAN splicing factor 1 193 KH. nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent ribosome|spliceosomal complex protein binding|RNA binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2) 31 CAACATCTGGCCATCTTTGCG 0.517000 24 329 0 0 1 0 0 NARFL 64428 broad.mit.edu 37 16 780544 780544 + Missense_Mutation SNP G G A rs143166023 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:780544G>A ENST00000540986.1 - 10 2433 c.998C>T c.(997-999)gCg>gTg p.A333V NARFL_ENST00000562862.1_5'UTR|NARFL_ENST00000568545.1_Missense_Mutation_p.A333V|NARFL_ENST00000251588.2_Missense_Mutation_p.A435V Q9H6Q4 NARFL_HUMAN nuclear prelamin A recognition factor-like 435 iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia 4 iron, 4 sulfur cluster binding|metal ion binding autonomic_ganglia(1)|large_intestine(1)|lung(7) 9 Hepatocellular(780;0.0218) AACCCCAGGCGCGTCCTCGGG 0.682000 32 117 0 0 1 0 0 SMARCC1 6599 broad.mit.edu 37 3 47704027 47704027 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:47704027C>T ENST00000254480.5 - 20 2074 c.1955G>A c.(1954-1956)cGt>cAt p.R652H SMARCC1_ENST00000425518.1_5'UTR NM_003074.3 NP_003065.3 Q92922 SMRC1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 652 SANT. chromatin remodeling|nervous system development|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex DNA binding|protein N-terminus binding|transcription coactivator activity breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01) ATCCTGAGTACGACTTCCAAC 0.458000 21 49 0 0 1 0 0 ANKIB1 54467 broad.mit.edu 37 7 91972488 91972488 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:91972488C>T ENST00000265742.3 + 6 1314 c.938C>T c.(937-939)tCt>tTt p.S313F NM_019004.1 NP_061877.1 Q9P2G1 AKIB1_HUMAN ankyrin repeat and IBR domain containing 1 313 protein binding|zinc ion binding cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1) 41 all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692) STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) ACTACACGCTCTTCTGTCACC 0.473000 5 67 0 0 1 0 0 SEMA5A 9037 broad.mit.edu 37 5 9224815 9224815 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:9224815G>A ENST00000382496.5 - 8 1282 c.617C>T c.(616-618)aCg>aTg p.T206M NM_003966.2 NP_003957.2 Q13591 SEM5A_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A 206 Sema. cell adhesion|cell-cell signaling integral to membrane|plasma membrane biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 81 GTACTGCGCCGTGCGGAGAGG 0.512000 17 38 0 0 1 0 0 ZNF341 84905 broad.mit.edu 37 20 32371563 32371563 + Missense_Mutation SNP G G C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:32371563G>C ENST00000375200.1 + 12 2110 c.1745G>C c.(1744-1746)cGg>cCg p.R582P ZNF341_ENST00000342427.2_Missense_Mutation_p.R575P Q9BYN7 ZN341_HUMAN zinc finger protein 341 582 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3) 31 CGCTACCTGCGGCGTCATCTG 0.587000 25 95 0 0 1 0 0 KCNH2 3757 broad.mit.edu 37 7 150648901 150648901 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:150648901G>A ENST00000392968.2 - 5 2412 c.1292C>T c.(1291-1293)gCg>gTg p.A431V KCNH2_ENST00000262186.5_Missense_Mutation_p.A527V|KCNH2_ENST00000430723.3_Missense_Mutation_p.A527V|KCNH2_ENST00000330883.4_Missense_Mutation_p.A187V Q12809 KCNH2_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 2 527 blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent voltage-gated potassium channel complex delayed rectifier potassium channel activity|two-component sensor activity NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 42 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661) CAGCAGCCGCGCAGTCTTCAG 0.667000 17 45 0 0 1 0 0 CARD11 84433 broad.mit.edu 37 7 2979480 2979480 + Missense_Mutation SNP T T G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:2979480T>G ENST00000396946.4 - 6 1170 c.767A>C c.(766-768)gAc>gCc p.D256A NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 256 positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) ATTTTCAATGTCATTCTTCAG 0.468000 Mis DLBCL 42 146 0 0 1 0 0 DHX37 57647 broad.mit.edu 37 12 125467155 125467155 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:125467155T>C ENST00000308736.2 - 3 389 c.291A>G c.(289-291)ctA>ctG p.L97L NM_032656.3 NP_116045.2 Q8IY37 DHX37_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 37 97 ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3) 65 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653) TCAGCTTCTGTAGCATCTCTG 0.458000 6 391 0 0 1 0 0 CROCC 9696 broad.mit.edu 37 1 17281861 17281861 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:17281861C>T ENST00000375541.5 + 24 3589 c.3520C>T c.(3520-3522)Cgg>Tgg p.R1174W NM_014675.3 NP_055490.3 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil, rootletin 1174 cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1) 62 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) TGACGGGCTGCGGCGGGAGCT 0.721000 12 51 0 0 1 0 0 GPR173 54328 broad.mit.edu 37 X 53105860 53105860 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chrX:53105860C>T ENST00000332582.4 + 2 548 c.57C>T c.(55-57)tcC>tcT p.S19S NM_018969.5 NP_061842.1 Q9NS66 GP173_HUMAN G protein-coupled receptor 173 19 integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1) 16 CCCCACCGTCCGCATCAGCTT 0.617000 14 17 0 0 1 0 0 GPR37L1 9283 broad.mit.edu 37 1 202096921 202096921 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:202096921G>A ENST00000367282.4 + 2 789 c.683G>A c.(682-684)cGc>cAc p.R228H NM_004767.3 NP_004758.3 O60883 ETBR2_HUMAN G protein-coupled receptor 37 like 1 228 integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2) 18 GGCATTGACCGCTTCCACGTG 0.592000 24 54 0 0 1 0 0 RNASE9 390443 broad.mit.edu 37 14 21024858 21024858 + Missense_Mutation SNP T T G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:21024858T>G ENST00000557068.1 - 4 2096 c.371A>C c.(370-372)aAg>aCg p.K124T RNASE9_ENST00000338904.3_Missense_Mutation_p.K124T|RNASE9_ENST00000553706.1_Missense_Mutation_p.K129T|RNASE9_ENST00000557209.1_Missense_Mutation_p.K129T|RNASE9_ENST00000556208.1_Missense_Mutation_p.K129T|RNASE9_ENST00000429244.2_Missense_Mutation_p.K124T|RNASE9_ENST00000404716.3_Missense_Mutation_p.K129T|RNASE9_ENST00000555230.1_Missense_Mutation_p.K124T|RNASE9_ENST00000553541.1_Missense_Mutation_p.K124T|RNASE9_ENST00000554964.1_Missense_Mutation_p.K124T P60153 RNAS9_HUMAN ribonuclease, RNase A family, 9 (non-active) 124 extracellular region nucleic acid binding|pancreatic ribonuclease activity haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|ovary(2)|urinary_tract(1) 8 all_cancers(95;0.00238) Epithelial(56;3.32e-06)|all cancers(55;2.46e-05) GBM - Glioblastoma multiforme(265;0.0141) AATTCCATTCTTACATGGCAC 0.363000 17 29 0 0 1 0 0 BBS9 27241 broad.mit.edu 37 7 33390830 33390830 + Splice_Site SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:33390830G>A ENST00000242067.6 + 14 1953 c.e14-1 BBS9_ENST00000350941.3_Intron|BBS9_ENST00000354265.4_Intron|BBS9_ENST00000355070.2_Splice_Site|BBS9_ENST00000396127.2_Intron NM_198428.2 NP_940820.1 Q3SYG4 PTHB1_HUMAN Bardet-Biedl syndrome 9 fat cell differentiation|response to stimulus|visual perception BBSome|cilium membrane|microtubule organizing center|nucleus protein binding BBS9/PKD1L1(2) NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(11;0.0894) ATTGCTTATAGCACCAGATTT 0.328000 Bardet-Biedl syndrome 17 39 0 0 1 0 0 PSME4 23198 broad.mit.edu 37 2 54101589 54101589 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:54101589T>C ENST00000404125.1 - 43 5042 c.4987A>G c.(4987-4989)Acc>Gcc p.T1663A PSME4_ENST00000421748.2_Missense_Mutation_p.T807A|PSME4_ENST00000476586.1_Intron NM_014614.2 NP_055429.2 Q14997 PSME4_HUMAN proteasome (prosome, macropain) activator subunit 4 1663 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction nuclear speck|proteasome complex binding breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2) 60 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) TGGAGGTAGGTCAGTACTGTG 0.378000 14 51 0 0 1 0 0 LLGL2 3993 broad.mit.edu 37 17 73564668 73564668 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:73564668A>G ENST00000392550.3 + 11 1265 c.1148A>G c.(1147-1149)cAc>cGc p.H383R LLGL2_ENST00000577200.1_Missense_Mutation_p.H383R|LLGL2_ENST00000167462.5_Missense_Mutation_p.H383R NM_001031803.1 NP_001026973.1 Q6P1M3 L2GL2_HUMAN lethal giant larvae homolog 2 (Drosophila) 383 cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity cytoplasm|intracellular membrane-bounded organelle PDZ domain binding NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112) GCTTCTCTGCACTGTTCCGCC 0.637000 4 60 0 0 1 0 0 PATE1 160065 broad.mit.edu 37 11 125617283 125617283 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:125617283T>C ENST00000305738.5 + 3 113 c.101T>C c.(100-102)gTt>gCt p.V34A PATE1_ENST00000437148.2_Intron NM_138294.2 NP_612151.1 Q8WXA2 PATE1_HUMAN prostate and testis expressed 1 34 extracellular region large_intestine(1)|lung(5) 6 AATGAAATAGTTGCTGTGAAA 0.393000 52 195 0 0 1 0 0 IPCEF1 26034 broad.mit.edu 37 6 154521162 154521162 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:154521162C>T ENST00000265198.4 - 10 702 c.547G>A c.(547-549)Gca>Aca p.A183T IPCEF1_ENST00000367220.4_Missense_Mutation_p.A184T|IPCEF1_ENST00000422970.2_Missense_Mutation_p.A184T|OPRM1_ENST00000337049.4_Intron|IPCEF1_ENST00000519091.1_5'UTR|IPCEF1_ENST00000519344.1_Missense_Mutation_p.A155T NM_001130700.1|NM_015553.2 NP_001124172.1|NP_056368.1 interaction protein for cytohesin exchange factors 1 breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 12 GATGAAGATGCCTGCTGTGCA 0.388000 10 43 0 0 1 0 0 PCDHA12 56137 broad.mit.edu 37 5 140255808 140255808 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:140255808T>C ENST00000398631.2 + 1 751 c.751T>C c.(751-753)Ttg>Ctg p.L251L PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron NM_018903.2|NM_031864.1 NP_061726.1|NP_114070.1 NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TAAAGTAGTGTTGTCTGAAAA 0.423000 7 143 0 0 1 0 0 RAC3 5881 broad.mit.edu 37 17 79991386 79991386 + Missense_Mutation SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:79991386G>T ENST00000306897.4 + 5 497 c.359G>T c.(358-360)cGc>cTc p.R120L NM_005052.2 NP_005043.1 P60763 RAC3_HUMAN ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3) 120 actin cytoskeleton organization|cell projection assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|endomembrane system|filamentous actin|growth cone|lamellipodium|neuronal cell body|plasma membrane GTP binding|GTPase activity|protein binding NS(1)|kidney(1)|skin(1) 3 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191) CTGGACCTCCGCGACGACAAG 0.667000 15 43 7.05477e-17 7.41646e-17 1 1 0 EIF2AK3 9451 broad.mit.edu 37 2 88870488 88870488 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:88870488G>A ENST00000303236.3 - 14 3190 c.2889C>T c.(2887-2889)gaC>gaT p.D963D EIF2AK3_ENST00000419748.1_Silent_p.D812D|EIF2AK3_ENST00000470706.1_5'UTR|AC104134.2_ENST00000413234.1_RNA NM_004836.5 NP_004827.4 Q9NZJ5 E2AK3_HUMAN eukaryotic translation initiation factor 2-alpha kinase 3 963 Protein kinase. activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization endoplasmic reticulum membrane|integral to membrane ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding ovary(3) 3 CCTCATCCTGGTCCATTGCAG 0.468000 39 124 0 0 1 0 0 TOMM20L 387990 broad.mit.edu 37 14 58869469 58869469 + Nonsense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:58869469G>A ENST00000360945.2 + 3 294 c.252G>A c.(250-252)tgG>tgA p.W84* RP11-517O13.1_ENST00000556734.1_RNA NM_207377.2 NP_997260.1 Q6UXN7 TO20L_HUMAN translocase of outer mitochondrial membrane 20 homolog (yeast)-like 84 protein targeting integral to membrane|mitochondrial outer membrane translocase complex large_intestine(2)|lung(2) 4 GAGAACTTTGGTTATCTAGAG 0.308000 8 152 0 0 1 0 0 FBXL3 26224 broad.mit.edu 37 13 77581451 77581451 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr13:77581451T>C ENST00000355619.5 - 5 1440 c.1116A>G c.(1114-1116)tcA>tcG p.S372S FBXL3_ENST00000477982.1_Intron NM_012158.2 NP_036290.1 Q9UKT7 FBXL3_HUMAN F-box and leucine-rich repeat protein 3 372 regulation of circadian rhythm|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytoplasm|nucleus|SCF ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1) 16 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218) GBM - Glioblastoma multiforme(99;0.0521) AGGCACTACATGAGACTTCAC 0.408000 26 102 0 0 1 0 0 MYH7B 57644 broad.mit.edu 37 20 33565879 33565879 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:33565879T>C ENST00000262873.7 + 3 289 c.197T>C c.(196-198)gTg>gCg p.V66A NM_020884.3 NP_065935.2 A7E2Y1 MYH7B_HUMAN myosin, heavy chain 7B, cardiac muscle, beta 24 membrane|myosin filament actin binding|ATP binding|motor activity NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 BRCA - Breast invasive adenocarcinoma(18;0.00691) ATGACGAAGGTGCACACTATC 0.592000 31 90 0 0 1 0 0 PCDHA11 56138 broad.mit.edu 37 5 140250599 140250599 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:140250599C>T ENST00000398640.2 + 1 1911 c.1911C>T c.(1909-1911)gaC>gaT p.D637D PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron NM_018902.3 NP_061725.1 p.D637D(1) breast(1)|lung(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGCCCTGGACGAGGCAGACT 0.662000 34 115 0 0 1 0 0 LRRK2 120892 broad.mit.edu 37 12 40629496 40629496 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:40629496T>C ENST00000298910.7 + 4 474 c.416T>C c.(415-417)tTa>tCa p.L139S LRRK2_ENST00000343742.2_Missense_Mutation_p.L139S NM_198578.3 NP_940980.3 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 139 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2) 181 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) CTGAAGACCTTAGATCTCCTC 0.308000 10 55 0 0 1 0 0 PCDH11X 27328 broad.mit.edu 37 X 91133579 91133579 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chrX:91133579A>G ENST00000373094.1 + 2 3185 c.2340A>G c.(2338-2340)acA>acG p.T780T PCDH11X_ENST00000298274.8_Silent_p.T780T|PCDH11X_ENST00000504220.1_Silent_p.T780T|PCDH11X_ENST00000406881.1_Silent_p.T780T|PCDH11X_ENST00000373097.1_Silent_p.T780T|PCDH11X_ENST00000395337.2_Silent_p.T780T|PCDH11X_ENST00000373088.1_Silent_p.T780T|PCDH11X_ENST00000361724.1_Silent_p.T780T|PCDH11X_ENST00000361655.2_Silent_p.T780T NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 780 Cadherin 7. homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 CCAATGCTACACTGATTAATG 0.438000 50 48 0 0 1 0 0 MVB12A 93343 broad.mit.edu 37 19 17534318 17534318 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:17534318G>A ENST00000317040.7 + 5 1480 c.425G>A c.(424-426)gGc>gAc p.G142D MVB12A_ENST00000528515.1_Missense_Mutation_p.A100T|MVB12A_ENST00000529939.1_Missense_Mutation_p.G142D|MVB12A_ENST00000543795.1_Missense_Mutation_p.G142D|MVB12A_ENST00000392702.2_Intron multivesicular body subunit 12A GACATGGGCGGCTTTGCCATC 0.687000 25 98 0 0 1 0 0 GGTLC1 92086 broad.mit.edu 37 20 23966824 23966824 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:23966824G>A ENST00000335694.4 - 3 397 c.193C>T c.(193-195)Cgc>Tgc p.R65C GGTLC1_ENST00000286890.4_Missense_Mutation_p.R65C|GGTLC1_ENST00000278765.4_Missense_Mutation_p.R65C NM_178311.2 NP_842563.1 Q9BX51 GGTL1_HUMAN gamma-glutamyltransferase light chain 1 65 gamma-glutamyltransferase activity p.R65C(2) NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 15 ACTGGGGAGCGCACCTTGGAG 0.572000 31 88 0 0 1 0 0 PLCH1 23007 broad.mit.edu 37 3 155206586 155206586 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:155206586G>A ENST00000460012.1 - 20 2669 c.2312C>T c.(2311-2313)cCt>cTt p.P771L PLCH1_ENST00000494598.1_Missense_Mutation_p.P789L|PLCH1_ENST00000447496.2_Missense_Mutation_p.P789L|PLCH1_ENST00000414191.1_Missense_Mutation_p.P771L|PLCH1_ENST00000334686.6_Missense_Mutation_p.P771L|PLCH1_ENST00000340059.7_Missense_Mutation_p.P789L Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 789 C2. 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) TTCCCACACAGGGTTAAATCC 0.423000 7 54 0 0 1 0 0 ZNF823 55552 broad.mit.edu 37 19 11832719 11832719 + Nonsense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:11832719G>A ENST00000341191.6 - 4 1783 c.1630C>T c.(1630-1632)Cga>Tga p.R544* ZNF823_ENST00000545749.1_Nonsense_Mutation_p.R362* NM_001080493.2 NP_001073962.1 P16415 ZN823_HUMAN zinc finger protein 823 544 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4) 26 CTTTCATGTCGTAGAAGGCAA 0.408000 HNSCC(68;0.2) 16 72 0 0 1 0 0 PLA2G4F 255189 broad.mit.edu 37 15 42439479 42439479 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:42439479C>T ENST00000397272.3 - 13 1359 c.1268G>A c.(1267-1269)cGt>cAt p.R423H PLA2G4F_ENST00000382396.4_Missense_Mutation_p.R421H NM_213600.3 NP_998765.3 Q68DD2 PA24F_HUMAN phospholipase A2, group IVF 421 PLA2c. phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(94;8.97e-07) AACCTGGGCACGCTCAATGGG 0.632000 10 52 0 0 1 0 0 NFKB2 4791 broad.mit.edu 37 10 104159907 104159907 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:104159907G>A ENST00000369966.3 + 15 1790 c.1540G>A c.(1540-1542)Gcc>Acc p.A514T NFKB2_ENST00000189444.6_Missense_Mutation_p.A514T|NFKB2_ENST00000428099.1_Missense_Mutation_p.A514T NM_001077494.2 NP_001070962.1 Q00653 NFKB2_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100) 514 innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|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 Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2) 23 Colorectal(252;0.00957) Epithelial(162;3.4e-08)|all cancers(201;6.41e-07) CATCCACCACGCCCAGGACCT 0.632000 T IGH@ B-NHL 34 75 0 0 1 0 0 VWCE 220001 broad.mit.edu 37 11 61026740 61026740 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:61026740C>T ENST00000335613.5 - 20 2661 c.2275G>A c.(2275-2277)Gga>Aga p.G759R VWCE_ENST00000535710.1_Missense_Mutation_p.G224R NM_152718.2 NP_689931.2 Q96DN2 VWCE_HUMAN von Willebrand factor C and EGF domains 759 extracellular region calcium ion binding biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 GCCACATTTCCGTGAGGGGAG 0.582000 22 61 0 0 1 0 0 U2AF2 11338 broad.mit.edu 37 19 56185344 56185344 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:56185344G>A ENST00000450554.2 + 12 2285 c.1326G>A c.(1324-1326)atG>atA p.M442I CTD-2537I9.12_ENST00000585940.1_RNA|U2AF2_ENST00000590551.1_Missense_Mutation_p.M278I|CTD-2537I9.12_ENST00000589456.1_RNA|U2AF2_ENST00000308924.4_Missense_Mutation_p.M446I NM_001012478.1|NM_007279.2 NP_001012496.1|NP_009210.1 P26368 U2AF2_HUMAN U2 small nuclear RNA auxiliary factor 2 446 RRM 3. mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription nucleoplasm|spliceosomal complex enzyme binding|nucleotide binding|RNA binding biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2) 21 Colorectal(82;0.00244)|Ovarian(87;0.133) BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.107) AGAAAGCCATGCAGGGCCTGA 0.562000 28 117 0 0 1 0 0 BDP1 55814 broad.mit.edu 37 5 70852717 70852717 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:70852717A>G ENST00000358731.4 + 36 7468 c.7205A>G c.(7204-7206)cAc>cGc p.H2402R BDP1_ENST00000380675.2_3'UTR NM_018429.2 NP_060899.2 A6H8Y1 BDP1_HUMAN B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB 2402 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) aaataGGTGCACTCAAAGGAA 0.234000 6 26 0 0 1 0 0 DGKA 1606 broad.mit.edu 37 12 56334470 56334470 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:56334470C>T ENST00000331886.5 + 12 1435 c.981C>T c.(979-981)caC>caT p.H327H DGKA_ENST00000394147.1_Silent_p.H327H|DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000551156.1_Silent_p.H327H NM_001345.4 NP_001336.2 P23743 DGKA_HUMAN diacylglycerol kinase, alpha 80kDa 327 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1) 25 Vitamin E(DB00163) TCCGGGATCACATCCTGCCTC 0.602000 OREG0021913 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 30 119 0 0 1 0 0 MAPKAPK3 7867 broad.mit.edu 37 3 50681875 50681875 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:50681875C>T ENST00000446044.1 + 8 1136 c.540C>T c.(538-540)gaC>gaT p.D180D MAPKAPK3_ENST00000357955.2_Silent_p.D180D NM_001243926.1 NP_001230855.1 Q16644 MAPK3_HUMAN mitogen-activated protein kinase-activated protein kinase 3 180 Protein kinase. activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|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 serine/threonine kinase activity central_nervous_system(1)|ovary(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223) AGGAGAAAGACGCAGTGCTTA 0.502000 29 95 0 0 1 0 0 MARCH5 54708 broad.mit.edu 37 10 94109493 94109493 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:94109493A>G ENST00000358935.2 + 5 951 c.619A>G c.(619-621)Act>Gct p.T207A MARCH5_ENST00000467521.2_3'UTR NM_017824.4 NP_060294.1 Q9NX47 MARH5_HUMAN membrane-associated ring finger (C3HC4) 5 207 cell aging|protein autoubiquitination|protein localization in mitochondrion|protein polyubiquitination|regulation of mitochondrial fission endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane GTPase binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1) 9 TGTCTCTGCTACTCGAATCTT 0.403000 10 292 0 0 1 0 0 TREX1 11277 broad.mit.edu 37 3 48508760 48508760 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:48508760A>G ENST00000296443.9 + 3 1593 c.706A>G c.(706-708)Aca>Gca p.T236A TREX1_ENST00000456089.1_Missense_Mutation_p.T97A|TREX1_ENST00000422277.2_Missense_Mutation_p.T291A|TREX1_ENST00000444177.1_Missense_Mutation_p.T226A|TREX1_ENST00000436480.2_Missense_Mutation_p.T236A|TREX1_ENST00000433541.1_Missense_Mutation_p.T97A|TREX1_ENST00000492235.1_3'UTR Q9NSU2 TREX1_HUMAN three prime repair exonuclease 1 291 cell death|DNA recombination|DNA replication|mismatch repair nuclear envelope 3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|metal ion binding|MutLalpha complex binding|MutSalpha complex binding|protein homodimerization activity|single-stranded DNA binding breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3) 9 BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) GTATGGGGTCACAGCCTCTGC 0.617000 29 95 0 0 1 0 0 ARSA 410 broad.mit.edu 37 22 51064693 51064693 + Missense_Mutation SNP G G A rs74315473 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr22:51064693G>A ENST00000547307.1 - 5 1267 c.862C>T c.(862-864)Cgt>Tgt p.R288C ARSA_ENST00000547805.1_Missense_Mutation_p.R288C|ARSA_ENST00000395619.3_Missense_Mutation_p.R290C|ARSA_ENST00000395621.3_Missense_Mutation_p.R290C|ARSA_ENST00000216124.5_Missense_Mutation_p.R290C|ARSA_ENST00000356098.5_Missense_Mutation_p.R290C|ARSA_ENST00000453344.2_Missense_Mutation_p.R204C P15289 ARSA_HUMAN arylsulfatase A 288 R -> C (in MLD).|R -> H (in MLD; adult form). lysosome arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1) 9 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) Micafungin(DB01141) CGGGACATACGCATGGTCTCA 0.637000 13 23 0 0 1 0 0 HSDL1 83693 broad.mit.edu 37 16 84163829 84163829 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:84163829T>C ENST00000219439.4 - 4 604 c.428A>G c.(427-429)aAa>aGa p.K143R HSDL1_ENST00000434463.3_Intron NM_001146051.1|NM_031463.4 NP_001139523.1|NP_113651.4 Q3SXM5 HSDL1_HUMAN hydroxysteroid dehydrogenase like 1 143 mitochondrion oxidoreductase activity|protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 7 GCCAACGTCTTTGTCCTTCAG 0.473000 5 198 0 0 1 0 0 CCDC151 115948 broad.mit.edu 37 19 11532352 11532352 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:11532352T>C ENST00000356392.4 - 11 1670 c.1583A>G c.(1582-1584)aAc>aGc p.N528S CCDC151_ENST00000586836.1_Missense_Mutation_p.N337S|CCDC151_ENST00000545100.1_Missense_Mutation_p.N474S|CCDC151_ENST00000591179.1_Missense_Mutation_p.N468S NM_145045.4 NP_659482.3 A5D8V7 CC151_HUMAN coiled-coil domain containing 151 528 endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1) 12 CACCTCGCGGTTAGCGATGTG 0.617000 52 165 0 0 1 0 0 KHK 3795 broad.mit.edu 37 2 27322364 27322364 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:27322364G>A ENST00000260599.6 + 7 1243 c.730G>A c.(730-732)Gct>Act p.A244T CGREF1_ENST00000402550.1_3'UTR|CGREF1_ENST00000452318.2_3'UTR|KHK_ENST00000260598.5_Missense_Mutation_p.A244T|KHK_ENST00000490823.1_3'UTR NM_000221.2 NP_000212.1 P50053 KHK_HUMAN ketohexokinase (fructokinase) 244 fructose catabolic process cytosol ATP binding|ketohexokinase activity|protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 16 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCACTCGGATGCTTTCCCGCC 0.632000 34 93 0 0 1 0 0 LOXL4 84171 broad.mit.edu 37 10 100013338 100013338 + Missense_Mutation SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:100013338C>A ENST00000260702.3 - 11 1957 c.1807G>T c.(1807-1809)Gat>Tat p.D603Y RP11-34A14.3_ENST00000433374.1_RNA NM_032211.6 NP_115587.6 Q96JB6 LOXL4_HUMAN lysyl oxidase-like 4 603 Lysyl-oxidase like. extracellular space|membrane copper ion binding|protein binding|scavenger receptor activity breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2) 26 Colorectal(252;0.234) Epithelial(162;2.14e-11)|all cancers(201;2.49e-09) ACCCAGCTATCGCGTCCAGTC 0.567000 11 82 9.05144e-12 9.41241e-12 1 1 0 RYR2 6262 broad.mit.edu 37 1 237659870 237659870 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:237659870A>G ENST00000366574.2 + 20 2338 c.2021A>G c.(2020-2022)tAc>tGc p.Y674C RYR2_ENST00000360064.6_Missense_Mutation_p.Y672C|RYR2_ENST00000542537.1_Missense_Mutation_p.Y658C NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 674 B30.2/SPRY 1. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) AAGAAATGGTACTATGAATTG 0.463000 28 61 0 0 1 0 0 C1QTNF7 114905 broad.mit.edu 37 4 15437503 15437503 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:15437503C>T ENST00000295297.4 + 2 416 c.157C>T c.(157-159)Cct>Tct p.P53S C1QTNF7_ENST00000429690.1_Missense_Mutation_p.P46S|C1QTNF7_ENST00000444304.2_Missense_Mutation_p.P46S NM_001135170.1 NP_001128642.1 Q9BXJ2 C1QT7_HUMAN C1q and tumor necrosis factor related protein 7 46 Collagen-like. collagen endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1) 16 TCCAGGGCCCCCTGGAGCAAA 0.572000 20 55 0 0 1 0 0 GPR182 11318 broad.mit.edu 37 12 57389733 57389733 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:57389733A>G ENST00000300098.1 + 2 959 c.740A>G c.(739-741)cAg>cGg p.Q247R NM_007264.3 NP_009195.1 O15218 GP182_HUMAN G protein-coupled receptor 182 247 integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 15 CGGCTGCGGCAGCCAGGACAA 0.647000 25 79 0 0 1 0 0 EML5 161436 broad.mit.edu 37 14 89202827 89202827 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:89202827C>T ENST00000554922.1 - 7 1178 c.930G>A c.(928-930)gtG>gtA p.V310V EML5_ENST00000380664.5_Silent_p.V310V|EML5_ENST00000352093.5_Silent_p.V310V NM_183387.2 NP_899243.1 Q05BV3 EMAL5_HUMAN echinoderm microtubule associated protein like 5 310 cytoplasm|microtubule breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 TTCTTTCTTGCACCACAATTT 0.403000 50 154 0 0 1 0 0 NFIB 4781 broad.mit.edu 37 9 14150259 14150259 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:14150259T>C ENST00000380959.3 - 5 1164 c.691A>G c.(691-693)Ata>Gta p.I231V NFIB_ENST00000397581.2_Missense_Mutation_p.I231V|NFIB_ENST00000543693.1_5'UTR|NFIB_ENST00000380934.4_Missense_Mutation_p.I257V|NFIB_ENST00000397579.2_Missense_Mutation_p.I231V|NFIB_ENST00000380924.1_5'UTR|NFIB_ENST00000380953.1_Missense_Mutation_p.I231V|NFIB_ENST00000397575.3_Missense_Mutation_p.I231V NM_005596.3 NP_005587.2 O00712 NFIB_HUMAN nuclear factor I/B 231 anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation cerebellar mossy fiber|nucleolus|nucleus RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1) 17 GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164) CCCTGGGTTATGGGCGCTGAG 0.443000 T """MYB, HGMA2""" """adenoid cystic carcinoma, lipoma""" 90 287 0 0 1 0 0 DPEP3 64180 broad.mit.edu 37 16 68014034 68014034 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:68014034C>T ENST00000268793.4 - 1 698 c.325G>A c.(325-327)Gcg>Acg p.A109T DPEP3_ENST00000574342.1_5'UTR NM_001129758.1|NM_022357.3 NP_001123230.1|NP_071752.3 Q9H4B8 DPEP3_HUMAN dipeptidase 3 84 meiosis anchored to membrane dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2) 20 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236) AGGGCCTGCGCGCGACCCCGA 0.672000 18 67 0 0 1 0 0 GRIN3B 116444 broad.mit.edu 37 19 1004694 1004694 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:1004694G>A ENST00000234389.3 + 3 1213 c.1194G>A c.(1192-1194)ccG>ccA p.P398P GRIN3B_ENST00000588335.1_Intron NM_138690.1 NP_619635.1 O60391 NMD3B_HUMAN glutamate receptor, ionotropic, N-methyl-D-aspartate 3B 398 ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 11 Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066) 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) Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173) ACTTGGAACCGGGAGGTGCCT 0.697000 4 26 0 0 1 0 0 DNAJC1 64215 broad.mit.edu 37 10 22209773 22209773 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:22209773A>G ENST00000376980.3 - 4 781 c.491T>C c.(490-492)gTg>gCg p.V164A DNAJC1_ENST00000376946.1_3'UTR NM_022365.3 NP_071760.2 Q96KC8 DNJC1_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 1 164 negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2) 21 Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262) ATAATGACCCACTGTGAGAAT 0.393000 28 84 0 0 1 0 0 RHOBTB2 23221 broad.mit.edu 37 8 22864404 22864404 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:22864404T>C ENST00000251822.6 + 5 1183 c.646T>C c.(646-648)Ttc>Ctc p.F216L RP11-875O11.1_ENST00000502083.2_RNA|RHOBTB2_ENST00000519685.1_Missense_Mutation_p.F238L|RP11-875O11.1_ENST00000523884.1_RNA|RHOBTB2_ENST00000522948.1_Missense_Mutation_p.F223L NM_015178.2 NP_055993.2 Q9BYZ6 RHBT2_HUMAN Rho-related BTB domain containing 2 216 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 31 Prostate(55;0.0513)|Breast(100;0.214) Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064) CCACCTGCAGTTCTGGAAGTC 0.642000 19 194 0 0 1 0 0 AMT 275 broad.mit.edu 37 3 49455120 49455120 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:49455120A>G ENST00000273588.3 - 9 1367 c.1065T>C c.(1063-1065)tcT>tcC p.S355S AMT_ENST00000538581.1_Silent_p.S299S|AMT_ENST00000476226.1_5'UTR|AMT_ENST00000546031.1_Silent_p.S258S|AMT_ENST00000458307.2_Silent_p.S311S|AMT_ENST00000395338.2_Silent_p.S355S NM_000481.3 NP_000472.2 P48728 GCST_HUMAN aminomethyltransferase 355 glycine catabolic process mitochondrion aminomethyltransferase activity|transaminase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) NADH(DB00157)|Tetrahydrofolic acid(DB00116) TCTTCTTCAGAGAGGGGGAGG 0.592000 42 143 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38739798 38739798 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:38739798A>G ENST00000449082.2 - 27 4912 c.4913T>C c.(4912-4914)aTc>aCc p.I1638T NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 1638 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) CATGTCGTCGATGCCAGCCTC 0.557000 52 169 0 0 1 0 0 TACC2 10579 broad.mit.edu 37 10 123847263 123847263 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:123847263G>A ENST00000369005.1 + 4 5588 c.5248G>A c.(5248-5250)Gcc>Acc p.A1750T TACC2_ENST00000358010.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.A1750T|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.A1750T|TACC2_ENST00000453444.2_Missense_Mutation_p.A1750T|TACC2_ENST00000515273.1_Missense_Mutation_p.A1750T NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 1750 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) TCAGGACCCAGCCTGCTCTGA 0.632000 12 20 0 0 1 0 0 NKAIN3 286183 broad.mit.edu 37 8 63659497 63659497 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:63659497G>A ENST00000523211.1 + 4 412 c.280G>A c.(280-282)Gat>Aat p.D94N NKAIN3_ENST00000328472.5_Missense_Mutation_p.D94N|NKAIN3_ENST00000519049.1_3'UTR NM_173688.2 NP_775959.1 Q8N8D7 NKAI3_HUMAN Na+/K+ transporting ATPase interacting 3 94 integral to membrane|plasma membrane kidney(3)|large_intestine(2)|lung(8) 13 Breast(64;0.127) Lung NSC(129;0.187) CTAGGACACCGATCTAATGAC 0.448000 17 44 0 0 1 0 0 PGM2 55276 broad.mit.edu 37 4 37851807 37851807 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:37851807A>G ENST00000381967.4 + 12 1515 c.1415A>G c.(1414-1416)tAt>tGt p.Y472C PGM2_ENST00000537241.1_Missense_Mutation_p.Y312C NM_018290.3 NP_060760.2 Q96G03 PGM2_HUMAN phosphoglucomutase 2 472 glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1) 19 TTTGATAGGTATGGCTACCAT 0.313000 5 24 0 0 1 0 0 PCDHA9 9752 broad.mit.edu 37 5 140229613 140229613 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:140229613C>T ENST00000378122.3 + 1 2257 c.1533C>T c.(1531-1533)caC>caT p.H511H PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Silent_p.H511H|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron NM_014005.3 NP_054724.1 breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 59 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTCAGTGCACGCGGAGAGCG 0.701000 64 205 0 0 1 0 0 ARID2 196528 broad.mit.edu 37 12 46243457 46243457 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:46243457A>G ENST00000334344.6 + 14 1982 c.1810A>G c.(1810-1812)Ata>Gta p.I604V ARID2_ENST00000422737.1_Missense_Mutation_p.I455V|ARID2_ENST00000444670.1_Missense_Mutation_p.I214V|ARID2_ENST00000479608.1_3'UTR NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 604 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) ACGGAGGGCTATACCACTTCC 0.453000 """N, S, F""" hepatocellular carcinoma 5 304 0 0 1 0 0 ZMYM6 9204 broad.mit.edu 37 1 35480372 35480372 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:35480372A>G ENST00000357182.4 - 6 948 c.721T>C c.(721-723)Tat>Cat p.Y241H ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000487874.1_Missense_Mutation_p.Y241H|ZMYM6_ENST00000373340.2_Missense_Mutation_p.Y241H NM_007167.3 NP_009098.3 O95789 ZMYM6_HUMAN zinc finger, MYM-type 6 241 multicellular organismal development nucleus DNA binding|zinc ion binding breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1) 44 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13) CTATAGCAATAGCTCCCACAG 0.393000 18 61 0 0 1 0 0 FASN 2194 broad.mit.edu 37 17 80037120 80037120 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:80037120C>T ENST00000306749.2 - 43 7653 c.7435G>A c.(7435-7437)Ggt>Agt p.G2479S NM_004104.4 NP_004095.4 P49327 FAS_HUMAN fatty acid synthase 2479 Thioesterase (By similarity). energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process cytosol|Golgi apparatus|melanosome|plasma membrane 3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1) 34 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237) Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339) CGGTGGTCACCCTCGATGACG 0.657000 8 107 0 0 1 0 0 RFX1 5989 broad.mit.edu 37 19 14077341 14077341 + Splice_Site SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:14077341G>A ENST00000254325.4 - 14 2087 c.1851_splice c.e14-1 p.A618_splice NM_002918.4 NP_002909.4 P22670 RFX1_HUMAN regulatory factor X, 1 (influences HLA class II expression) 618 immune response nucleus DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(19;6.67e-23) GTCGACAATGGCCTGTGGCAG 0.667000 20 45 0 0 1 0 0 TSSK1B 83942 broad.mit.edu 37 5 112770140 112770140 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:112770140C>T ENST00000390666.3 - 1 588 c.397G>A c.(397-399)Gtc>Atc p.V133I CTD-2201G3.1_ENST00000416046.2_RNA|MCC_ENST00000408903.3_Intron|CTD-2201G3.1_ENST00000383058.4_RNA NM_032028.3 NP_114417.1 Q9BXA7 TSSK1_HUMAN testis-specific serine kinase 1B 133 Protein kinase. cell differentiation|multicellular organismal development|spermatogenesis ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.V133I(2) large_intestine(8)|ovary(2)|skin(2)|stomach(1) 13 all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156) Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449) TCCCGGTGGACGACGTCCAGG 0.557000 18 77 0 0 1 0 0 ERGIC1 57222 broad.mit.edu 37 5 172359522 172359522 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:172359522T>C ENST00000393784.3 + 8 764 c.625T>C c.(625-627)Tac>Cac p.Y209H NM_001031711.2 NP_001026881.1 Q969X5 ERGI1_HUMAN endoplasmic reticulum-golgi intermediate compartment (ERGIC) 1 209 ER to Golgi vesicle-mediated transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane protein binding endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2) 9 Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) CTCCTACCAGTACACGGTGGC 0.642000 OREG0017050 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 42 0 0 1 0 0 SLC17A6 57084 broad.mit.edu 37 11 22396403 22396403 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:22396403A>G ENST00000263160.3 + 9 1581 c.1144A>G c.(1144-1146)Acg>Gcg p.T382A NM_020346.2 NP_065079.1 Q9P2U8 VGLU2_HUMAN solute carrier family 17 (vesicular glutamate transporter), member 6 382 sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3) 50 TCTTTCAACTACGACAGTGAG 0.373000 47 143 0 0 1 0 0 NPC1 4864 broad.mit.edu 37 18 21123524 21123524 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr18:21123524G>A ENST00000269228.5 - 14 2694 c.2140C>T c.(2140-2142)Cgt>Tgt p.R714C NPC1_ENST00000540608.1_5'UTR|NPC1_ENST00000412552.2_Missense_Mutation_p.R396C NM_000271.4 NP_000262.2 O15118 NPC1_HUMAN Niemann-Pick disease, type C1 714 SSD. autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm hedgehog receptor activity|protein binding|sterol transporter activity breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1) 38 all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127) CCTTGAAGACGTTCATCTCTC 0.398000 25 62 0 0 1 0 0 PCDHGA12 26025 broad.mit.edu 37 5 140812493 140812493 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:140812493C>T ENST00000252085.3 + 1 2309 c.2167C>T c.(2167-2169)Cgc>Tgc p.R723C PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron NM_003735.2|NM_032094.1 NP_003726.1|NP_115265.1 breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 58 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCACAAGTCACGCCTGCTGCA 0.657000 61 172 0 0 1 0 0 ANKRD1 27063 broad.mit.edu 37 10 92675593 92675593 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:92675593A>G ENST00000371697.3 - 7 944 c.696T>C c.(694-696)taT>taC p.Y232Y NM_014391.2 NP_055206.2 Q15327 ANKR1_HUMAN ankyrin repeat domain 1 (cardiac muscle) 232 cellular lipid metabolic process|defense response|signal transduction DNA binding autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1) 27 Colorectal(252;0.0475) CCGCGCACTCATAGTGGCCAG 0.542000 9 42 0 0 1 0 0 MAU2 23383 broad.mit.edu 37 19 19455728 19455728 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:19455728C>T ENST00000392313.5 + 11 1194 c.1148C>T c.(1147-1149)aCa>aTa p.T383I MAU2_ENST00000262815.8_Missense_Mutation_p.T383I NM_015329.3 NP_056144.3 Q9Y6X3 SCC4_HUMAN MAU2 sister chromatid cohesion factor 383 cell division|maintenance of mitotic sister chromatid cohesion chromatin|nucleoplasm|SMC loading complex protein N-terminus binding NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 18 CAGCTGCACACATTGCTGGTG 0.552000 17 43 0 0 1 0 0 CHRD 8646 broad.mit.edu 37 3 184105783 184105783 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:184105783T>C ENST00000204604.1 + 20 2762 c.2516T>C c.(2515-2517)gTg>gCg p.V839A CHRD_ENST00000348986.3_Missense_Mutation_p.V799A|CHRD_ENST00000450923.1_Missense_Mutation_p.V839A|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000545352.1_Missense_Mutation_p.V381A NM_003741.2 NP_003732.2 Q9H2X0 CHRD_HUMAN chordin 839 VWFC 3. BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development extracellular space cytokine binding NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 all_cancers(143;6.33e-11)|Ovarian(172;0.0339) Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GCCCAGCCTGTGCGTGTCAAC 0.617000 11 35 0 0 1 0 0 DHX58 79132 broad.mit.edu 37 17 40260095 40260095 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:40260095A>G ENST00000251642.3 - 7 932 c.710T>C c.(709-711)aTg>aCg p.M237T NM_024119.2 NP_077024.2 Q96C10 DHX58_HUMAN DEXH (Asp-Glu-X-His) box polypeptide 58 237 innate immune response cytoplasm ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) GATTTGGTCCATGAGCTTCTT 0.552000 8 108 0 0 1 0 0 SKP1 6500 broad.mit.edu 37 5 133494134 133494134 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:133494134T>C ENST00000522552.1 - 5 577 c.468A>G c.(466-468)acA>acG p.T156T SKP1_ENST00000517625.1_Intron|SKP1_ENST00000353411.6_Intron|SKP1_ENST00000522855.1_Intron|SKP1_ENST00000521216.1_Intron NM_006930.3 NP_008861.2 P63208 SKP1_HUMAN S-phase kinase-associated protein 1 157 Interaction with the F-box domain of F- box proteins (By similarity). anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|G1/S transition of mitotic cell cycle|histone H2A monoubiquitination|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|viral reproduction cytosol|nucleoplasm|SCF ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity large_intestine(1)|lung(3)|upper_aerodigestive_tract(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GACAAAACTGTGTGCTACCTA 0.408000 18 171 0 0 1 0 0 TMA16 55319 broad.mit.edu 37 4 164436611 164436611 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:164436611T>C ENST00000358572.5 + 5 727 c.386T>C c.(385-387)cTt>cCt p.L129P TMA16_ENST00000513134.1_Intron|TMA16_ENST00000511562.1_3'UTR|TMA16_ENST00000513272.1_Intron|TMA16_ENST00000508268.1_Missense_Mutation_p.L129P NM_018352.2 NP_060822.2 Q96EY4 CD043_HUMAN translation machinery associated 16 homolog (S. cerevisiae) 129 GGATATGGCCTTGGTGTGCTC 0.433000 10 142 0 0 1 0 0 SERAC1 84947 broad.mit.edu 37 6 158579328 158579328 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:158579328C>T ENST00000367102.2 - 2 209 c.68G>A c.(67-69)aGt>aAt p.S23N SERAC1_ENST00000607000.1_Missense_Mutation_p.S23N|SERAC1_ENST00000367104.3_Missense_Mutation_p.S23N|SERAC1_ENST00000367101.1_Missense_Mutation_p.S23N Q96JX3 SRAC1_HUMAN serine active site containing 1 23 GPI anchor metabolic process|intracellular protein transport integral to membrane|intrinsic to endoplasmic reticulum membrane binding|hydrolase activity, acting on ester bonds endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 15 Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178) OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05) GTGTGTGCCACTTTTTGGTGG 0.398000 5 92 0 0 1 0 0 GUSB 2990 broad.mit.edu 37 7 65444432 65444432 + Silent SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:65444432G>T ENST00000304895.4 - 4 808 c.678C>A c.(676-678)acC>acA p.T226T GUSB_ENST00000476486.1_5'UTR|GUSB_ENST00000421103.1_Intron|GUSB_ENST00000345660.6_Silent_p.T226T NM_000181.3 NP_000172.2 P08236 BGLR_HUMAN glucuronidase, beta 226 glycosaminoglycan catabolic process lysosome beta-glucuronidase activity|cation binding breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1) 20 CATCGATGTAGGTGGTGGGTG 0.527000 11 117 6.40141e-05 6.51258e-05 1 1 0 MMRN1 22915 broad.mit.edu 37 4 90857093 90857093 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:90857093T>C ENST00000394980.1 + 7 2581 c.2262T>C c.(2260-2262)acT>acC p.T754T MMRN1_ENST00000508372.1_Silent_p.T496T|MMRN1_ENST00000264790.2_Silent_p.T754T|MMRN1_ENST00000394981.1_Intron Q13201 MMRN1_HUMAN multimerin 1 754 cell adhesion|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2) 72 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.96e-05) CTTTAAGTACTATTAAGGATA 0.323000 13 46 0 0 1 0 0 TRPM1 4308 broad.mit.edu 37 15 31319297 31319297 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:31319297G>A ENST00000542188.1 - 25 3681 c.3368C>T c.(3367-3369)tCa>tTa p.S1123L TRPM1_ENST00000397795.2_Missense_Mutation_p.S1084L|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000256552.6_Missense_Mutation_p.S1106L|RP11-348B17.1_ENST00000558755.1_RNA NM_001252020.1 NP_001238949.1 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, subfamily M, member 1 1084 cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3) 99 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) GTTGGATATTGATTTTACTTC 0.378000 14 61 0 0 1 0 0 SEMA7A 8482 broad.mit.edu 37 15 74703101 74703101 + Missense_Mutation SNP C C T rs140128092 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:74703101C>T ENST00000261918.4 - 14 2413 c.1865G>A c.(1864-1866)cGc>cAc p.R622H SEMA7A_ENST00000543145.2_Missense_Mutation_p.R608H|SEMA7A_ENST00000542748.1_Missense_Mutation_p.R457H NM_003612.3 NP_003603.1 O75326 SEM7A_HUMAN semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group) 622 Ig-like C2-type. axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response anchored to membrane|external side of plasma membrane receptor activity breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1) 30 CTGAGCCTCGCGGAAGTAGGA 0.667000 9 54 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55537721 55537721 + Missense_Mutation SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:55537721A>T ENST00000220676.1 + 4 1427 c.1279A>T c.(1279-1281)Aat>Tat p.N427Y NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 427 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TAGTTGGGAGAATGCTACTGT 0.448000 32 134 0 0 1 0 0 HSPA5 3309 broad.mit.edu 37 9 127999357 127999357 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:127999357C>T ENST00000324460.6 - 8 1682 c.1479G>A c.(1477-1479)ggG>ggA p.G493G NM_005347.4 NP_005338.1 P11021 GRP78_HUMAN heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) 493 anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1) 23 Antihemophilic Factor(DB00025) TCTGTGGGACCCCACGAGGAG 0.423000 Prostate(1;0.17) 22 67 0 0 1 0 0 DUPD1 338599 broad.mit.edu 37 10 76803760 76803760 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:76803760G>A ENST00000338487.5 - 2 215 c.216C>T c.(214-216)gaC>gaT p.D72D NM_001003892.1 NP_001003892.1 Q68J44 DUPD1_HUMAN dual specificity phosphatase and pro isomerase domain containing 1 72 Tyrosine-protein phosphatase. cytoplasm protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1) 11 all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348) GCCTATAGCGGTCCAGCGCCG 0.701000 23 60 0 0 1 0 0 CNNM2 54805 broad.mit.edu 37 10 104678805 104678805 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:104678805T>C ENST00000369878.3 + 1 692 c.568T>C c.(568-570)Tac>Cac p.Y190H CNNM2_ENST00000433628.2_Missense_Mutation_p.Y190H|CNNM2_ENST00000369875.3_Missense_Mutation_p.Y190H NM_017649.4 NP_060119.3 Q9H8M5 CNNM2_HUMAN cyclin M2 190 ion transport integral to membrane central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1) 19 Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198) Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) CAAGTCCTATTACCTGTGCAC 0.657000 75 232 0 0 1 0 0 XKR6 286046 broad.mit.edu 37 8 10755966 10755966 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:10755966C>T ENST00000416569.2 - 3 1448 c.1422G>A c.(1420-1422)gtG>gtA p.V474V XKR6_ENST00000304437.2_Silent_p.V195V NM_173683.3 NP_775954.2 Q5GH73 XKR6_HUMAN XK, Kell blood group complex subunit-related family, member 6 474 integral to membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3) 31 Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555) ACAGTGCTGGCACCGCATAGG 0.478000 13 32 0 0 1 0 0 UBR4 23352 broad.mit.edu 37 1 19422136 19422136 + Missense_Mutation SNP T T A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:19422136T>A ENST00000375267.2 - 93 13532 c.13529A>T c.(13528-13530)aAa>aTa p.K4510I UBR4_ENST00000375254.3_Missense_Mutation_p.K4510I|UBR4_ENST00000543981.1_Missense_Mutation_p.K174I|UBR4_ENST00000467272.2_5'UTR|UBR4_ENST00000375217.2_Missense_Mutation_p.K4503I|UBR4_ENST00000375224.1_Missense_Mutation_p.K217I|UBR4_ENST00000375226.2_Missense_Mutation_p.K4486I|UBR4_ENST00000429347.2_Missense_Mutation_p.K73I Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 4510 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) ACTGAACAATTTCAGTAGCAC 0.493000 17 38 0 0 1 0 0 TMC5 79838 broad.mit.edu 37 16 19477442 19477442 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:19477442C>T ENST00000396229.2 + 9 2273 c.1524C>T c.(1522-1524)taC>taT p.Y508Y TMC5_ENST00000542583.2_Silent_p.Y508Y|TMC5_ENST00000564959.1_Silent_p.Y191Y|TMC5_ENST00000561503.1_Silent_p.Y149Y|TMC5_ENST00000541464.1_Silent_p.Y508Y|TMC5_ENST00000219821.5_Silent_p.Y262Y|TMC5_ENST00000381414.4_Silent_p.Y508Y NM_001105248.1 NP_001098718.1 Q6UXY8 TMC5_HUMAN transmembrane channel-like 5 508 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 ATGGCTTTTACACCAATTCCA 0.458000 5 68 0 0 1 0 0 CNTN1 1272 broad.mit.edu 37 12 41330678 41330678 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:41330678A>G ENST00000551295.2 + 10 1198 c.1081A>G c.(1081-1083)Aca>Gca p.T361A CNTN1_ENST00000360099.3_Missense_Mutation_p.T361A|CNTN1_ENST00000547702.1_Missense_Mutation_p.T361A|CNTN1_ENST00000348761.2_Missense_Mutation_p.T350A|CNTN1_ENST00000347616.1_Missense_Mutation_p.T361A|CNTN1_ENST00000547849.1_Missense_Mutation_p.T361A NM_001843.3 NP_001834.2 Q12860 CNTN1_HUMAN contactin 1 361 Ig-like C2-type 4. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane p.T361A(1) central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 90 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) GCCCATCCCTACAATCCGATG 0.478000 11 223 0 0 1 0 0 CYP19A1 1588 broad.mit.edu 37 15 51504657 51504657 + Missense_Mutation SNP G G A rs121434536 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:51504657G>A ENST00000396402.1 - 9 1276 c.1123C>T c.(1123-1125)Cgc>Tgc p.R375C CYP19A1_ENST00000396404.4_Missense_Mutation_p.R375C|CYP19A1_ENST00000559878.1_Missense_Mutation_p.R375C|CYP19A1_ENST00000260433.2_Missense_Mutation_p.R375C|RP11-108K3.1_ENST00000559909.1_lincRNA NM_000103.3 NP_000094.2 P11511 CP19A_HUMAN cytochrome P450, family 19, subfamily A, polypeptide 1 375 R -> C (in AROD).|R -> L. estrogen biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|membrane fraction aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 33 all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128) Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624) AAGGCTTTGCGCATGACCAAG 0.408000 16 89 0 0 1 0 0 KCNMB2 10242 broad.mit.edu 37 3 178543536 178543536 + Missense_Mutation SNP T T A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:178543536T>A ENST00000432997.1 + 3 569 c.217T>A c.(217-219)Tac>Aac p.Y73N KCNMB2_ENST00000420517.2_Missense_Mutation_p.Y73N|KCNMB2_ENST00000358316.3_Missense_Mutation_p.Y73N|RP11-385J1.2_ENST00000432385.1_RNA|RP11-385J1.2_ENST00000437488.1_RNA|RP11-385J1.2_ENST00000451742.1_RNA|RP11-385J1.2_ENST00000425330.1_RNA|KCNMB2_ENST00000452583.1_Missense_Mutation_p.Y73N NM_005832.3 NP_005823.1 Q9Y691 KCMB2_HUMAN potassium large conductance calcium-activated channel, subfamily M, beta member 2 73 detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of vasoconstriction voltage-gated potassium channel complex calcium-activated potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity NS(2)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 12 all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125) OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841) CCTGCGCTCATACATGCAGAG 0.532000 47 171 0 0 1 0 0 AASDH 132949 broad.mit.edu 37 4 57237793 57237793 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:57237793T>C ENST00000205214.6 - 5 865 c.685A>G c.(685-687)Aca>Gca p.T229A AASDH_ENST00000451613.1_Missense_Mutation_p.T229A|AASDH_ENST00000434343.2_5'UTR|AASDH_ENST00000510762.1_Intron|AASDH_ENST00000513376.1_Missense_Mutation_p.T129A|AASDH_ENST00000602986.1_Missense_Mutation_p.T76A|AASDH_ENST00000502617.1_Missense_Mutation_p.T229A NM_181806.2 NP_861522.2 Q4L235 ACSF4_HUMAN aminoadipate-semialdehyde dehydrogenase 229 fatty acid metabolic process acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 40 Glioma(25;0.08)|all_neural(26;0.101) all_hematologic(202;0.0017) TCTTCTTGTGTGATGTCAAAA 0.383000 6 66 0 0 1 0 0 CEP170 9859 broad.mit.edu 37 1 243328085 243328085 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:243328085T>C ENST00000366542.1 - 13 3228 c.3177A>G c.(3175-3177)tcA>tcG p.S1059S RP11-261C10.4_ENST00000437499.1_RNA|RP11-261C10.4_ENST00000422938.1_RNA|CEP170_ENST00000366544.1_Silent_p.S961S|CEP170_ENST00000366543.1_Silent_p.S961S NM_014812.2 NP_055627.2 Q5SW79 CE170_HUMAN centrosomal protein 170kDa 1059 Targeting to microtubules. centriole|microtubule|spindle NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 62 all_neural(11;0.101) all_cancers(173;0.003) all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101) GCTCATCAGCTGAGGTAAGTG 0.418000 7 49 0 0 1 0 0 CPA2 1358 broad.mit.edu 37 7 129906728 129906728 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:129906728A>G ENST00000222481.4 + 1 62 c.7A>G c.(7-9)Atg>Gtg p.M3V NM_001869.2 NP_001860.2 P48052 CBPA2_HUMAN carboxypeptidase A2 (pancreatic) 3 proteolysis|vacuolar protein catabolic process extracellular region|vacuole metallocarboxypeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Melanoma(18;0.0435) ACCCATGGCCATGAGGTTGAT 0.448000 34 93 0 0 1 0 0 KIF22 3835 broad.mit.edu 37 16 29810350 29810350 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:29810350C>T ENST00000561482.1 + 5 1037 c.400C>T c.(400-402)Cgg>Tgg p.R134W KIF22_ENST00000400750.2_5'UTR|KIF22_ENST00000569382.2_Missense_Mutation_p.R134W|KIF22_ENST00000160827.4_Missense_Mutation_p.R202W|KIF22_ENST00000400751.5_Missense_Mutation_p.R134W NM_001256270.1 NP_001243199.1 Q14807 KIF22_HUMAN kinesin family member 22 202 Kinesin-motor. blood coagulation|DNA repair|microtubule-based movement|mitosis cytosol|kinetochore|microtubule|nucleus ATP binding|DNA binding|microtubule motor activity|protein binding endometrium(1)|large_intestine(1)|lung(11)|skin(1) 14 AGAAGACTGCCGGGGGAATAT 0.547000 34 164 0 0 1 0 0 TBL1XR1 79718 broad.mit.edu 37 3 176752112 176752112 + Splice_Site SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:176752112A>T ENST00000430069.1 - 13 1383 c.1122_splice c.e13-1 p.I375_splice TBL1XR1_ENST00000457928.2_Splice_Site_p.I375_splice Q9BZK7 TBL1R_HUMAN transducin (beta)-like 1 X-linked receptor 1 375 canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent spindle microtubule|transcriptional repressor complex beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214) Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215) OV - Ovarian serous cystadenocarcinoma(80;9.83e-31) CATACTCCATATCTAAACAAA 0.259000 7 19 0 0 1 0 0 ATXN1 6310 broad.mit.edu 37 6 16306681 16306681 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:16306681G>A ENST00000244769.4 - 9 3263 c.2327C>T c.(2326-2328)gCg>gTg p.A776V ATXN1_ENST00000436367.1_Missense_Mutation_p.A776V NM_000332.3 NP_000323.2 P54253 ATX1_HUMAN ataxin 1 776 Interaction with USP7. cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2) 44 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) GCTCTCTGGCGCCGACCACCT 0.522000 31 75 0 0 1 0 0 TAF15 8148 broad.mit.edu 37 17 34171941 34171941 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:34171941T>C ENST00000592237.1 + 18 1581 c.1052T>C c.(1051-1053)gTg>gCg p.V351A TAF15_ENST00000588240.1_Silent_p.S546S|TAF15_ENST00000311979.3_Silent_p.S543S Q92804 RBP56_HUMAN TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa 0 Arg/Gly-rich. positive regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding TAF15/NR4A3(33) lung(1)|ovary(1)|skin(2)|stomach(1) 5 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0193) GAGACCGAAGTGGAGGCTATG 0.617000 T """TEC, CHN1, ZNF384""" """extraskeletal myxoid chondrosarcomas, ALL""" 5 148 0 0 1 0 0 VWA8 23078 broad.mit.edu 37 13 42264310 42264310 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr13:42264310A>G ENST00000379310.3 - 33 4036 c.3968T>C c.(3967-3969)gTt>gCt p.V1323A VWA8_ENST00000478987.1_5'UTR NM_015058.1 NP_055873.1 von Willebrand factor A domain containing 8 ACCTTGTGTAACTCCAAACCC 0.428000 20 60 0 0 1 0 0 MIR377 494326 broad.mit.edu 37 14 101528398 101528398 + RNA SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:101528398T>C ENST00000362145.2 + 0 56 NR_029869.1 TGAGCAGAGGTTGCCCTTGGT 0.522000 9 131 0 0 1 0 0 PPP2R2A 5520 broad.mit.edu 37 8 26227699 26227699 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:26227699A>G ENST00000380737.3 + 10 1443 c.1114A>G c.(1114-1116)Aac>Gac p.N372D PPP2R2A_ENST00000315985.7_Missense_Mutation_p.N382D NM_002717.3 NP_002708.1 protein phosphatase 2, regulatory subunit B, alpha kidney(1)|large_intestine(2)|ovary(1) 4 all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155) GTTTGACAGAAACACAAAGCG 0.413000 15 64 0 0 1 0 0 FGB 2244 broad.mit.edu 37 4 155490896 155490896 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:155490896A>G ENST00000302068.4 + 7 1252 c.1189A>G c.(1189-1191)Atg>Gtg p.M397V FGB_ENST00000509493.1_Missense_Mutation_p.M178V|FGB_ENST00000502545.1_Intron NM_005141.4 NP_005132.2 P02675 FIBB_HUMAN fibrinogen beta chain 397 Fibrinogen C-terminal. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 all_hematologic(180;0.215) Renal(120;0.0458) Sucralfate(DB00364) AAACAGGACCATGACCATTCA 0.458000 22 61 0 0 1 0 0 SLC2A12 154091 broad.mit.edu 37 6 134350163 134350163 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:134350163T>C ENST00000275230.5 - 2 955 c.800A>G c.(799-801)gAt>gGt p.D267G NM_145176.2 NP_660159.1 Q8TD20 GTR12_HUMAN solute carrier family 2 (facilitated glucose transporter), member 12 267 endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane D-glucose transmembrane transporter activity NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 17 Breast(56;0.214)|Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123) ACGAAACAGATCCCAAAAACT 0.388000 4 89 0 0 1 0 0 HHEX 3087 broad.mit.edu 37 10 94452165 94452165 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:94452165G>A ENST00000282728.5 + 2 2201 c.402G>A c.(400-402)ctG>ctA p.L134L HHEX_ENST00000472590.2_5'UTR|HHEX_ENST00000492654.2_5'UTR NM_002729.4 NP_002720.1 Q03014 HHEX_HUMAN hematopoietically expressed homeobox 134 anterior/posterior pattern formation|B cell differentiation|cell cycle|DNA conformation change|negative regulation of angiogenesis|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of vascular endothelial growth factor receptor signaling pathway|poly(A)+ mRNA export from nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|Wnt receptor signaling pathway cytoplasm|nucleus|protein-DNA complex DNA bending activity|eukaryotic initiation factor 4E binding|protein homodimerization activity|repressing transcription factor binding|sequence-specific DNA binding|TBP-class protein binding|transcription regulatory region DNA binding kidney(2)|large_intestine(2)|lung(5)|ovary(1) 10 AGAGGCCTCTGCATAAAAGGA 0.597000 4 111 0 0 1 0 0 GRIN3A 116443 broad.mit.edu 37 9 104335655 104335655 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:104335655G>A ENST00000361820.3 - 9 3749 c.3149C>T c.(3148-3150)cCa>cTa p.P1050L NM_133445.2 NP_597702.2 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, N-methyl-D-aspartate 3A 1050 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1) 80 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) TCTTCTCCTTGGAGGGAGGGG 0.527000 32 112 0 0 1 0 0 TIGD4 201798 broad.mit.edu 37 4 153691769 153691769 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:153691769T>C ENST00000304337.2 - 2 1208 c.388A>G c.(388-390)Aat>Gat p.N130D NM_145720.3 NP_663772.1 Q8IY51 TIGD4_HUMAN tigger transposable element derived 4 130 HTH CENPB-type. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus chromatin binding|DNA binding breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 26 all_hematologic(180;0.093) AGCCAACCATTACTGCACTTA 0.413000 23 86 0 0 1 0 0 NPFFR2 10886 broad.mit.edu 37 4 72994604 72994604 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:72994604T>C ENST00000308744.6 + 2 700 c.602T>C c.(601-603)aTg>aCg p.M201T NPFFR2_ENST00000358749.3_Missense_Mutation_p.M99T|NPFFR2_ENST00000344413.5_Intron|NPFFR2_ENST00000395999.1_Missense_Mutation_p.M102T NM_004885.2 NP_004876.2 Q9Y5X5 NPFF2_HUMAN neuropeptide FF receptor 2 201 detection of abiotic stimulus actin cytoskeleton|integral to plasma membrane neuropeptide receptor activity NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138) ATATTCTGCATGCCTATAACA 0.368000 30 92 0 0 1 0 0 CLUL1 27098 broad.mit.edu 37 18 645095 645095 + Silent SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr18:645095C>A ENST00000581619.1 + 8 2317 c.1470C>A c.(1468-1470)acC>acA p.T490T CLUL1_ENST00000338387.7_Silent_p.T465T|CLUL1_ENST00000400606.2_Silent_p.T465T|CLUL1_ENST00000579494.1_Silent_p.T465T|C18orf56_ENST00000585033.1_Intron|CLUL1_ENST00000540035.1_Silent_p.T517T Q15846 CLUL1_HUMAN clusterin-like 1 (retinal) 465 cell death extracellular region NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1) 24 ATTTTAAAACCTGGTAAGCAG 0.388000 16 63 4.14922e-12 4.31867e-12 1 1 0 FRS2 10818 broad.mit.edu 37 12 69968254 69968254 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:69968254A>G ENST00000299293.2 + 10 1556 c.1046A>G c.(1045-1047)tAt>tGt p.Y349C FRS2_ENST00000397997.2_Missense_Mutation_p.Y349C|FRS2_ENST00000549921.1_Missense_Mutation_p.Y349C|FRS2_ENST00000550389.1_Missense_Mutation_p.Y349C NM_001278351.1|NM_006654.3 NP_001265280.1|NP_006645.3 Q8WU20 FRS2_HUMAN fibroblast growth factor receptor substrate 2 349 activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway endomembrane system|endosome|integral to plasma membrane|membrane fraction fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 Breast(13;2.15e-06)|Esophageal squamous(21;0.187) Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24) TTATTAAACTATGAAAATCTA 0.458000 4 138 0 0 1 0 0 LILRA1 11024 broad.mit.edu 37 19 55105247 55105247 + Splice_Site SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:55105247G>A ENST00000453777.1 + 1 122 c.e1+1 LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000473156.1_Splice_Site|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000251372.3_Splice_Site NM_001278318.1 NP_001265247.1 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 47 GBM - Glioblastoma multiforme(193;0.0348) GACTGCCATGGTAAGGACCCC 0.577000 4 9 0 0 1 0 0 CYP2D7 1564 broad.mit.edu 37 22 42539506 42539506 + RNA SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr22:42539506G>A ENST00000358097.4 - 0 342 CYP2D7P1_ENST00000433992.1_RNA|CYP2D7P1_ENST00000424775.1_RNA endometrium(1) 1 CTCGCGCACGGCCGCCAGCCC 0.726000 4 6 0 0 1 0 0 DIS3 22894 broad.mit.edu 37 13 73346903 73346903 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr13:73346903A>G ENST00000377767.4 - 9 1414 c.1314T>C c.(1312-1314)gaT>gaC p.D438D DIS3_ENST00000545453.1_Silent_p.D276D|DIS3_ENST00000377780.4_Silent_p.D408D NM_014953.3 NP_055768.3 Q9Y2L1 RRP44_HUMAN DIS3 mitotic control homolog (S. cerevisiae) 438 CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing cytosol|exosome (RNase complex)|nucleolus|nucleoplasm 3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1) 35 Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195) GBM - Glioblastoma multiforme(99;0.000181) GATGGGGAACATCGTGTTCAA 0.388000 Multiple Myeloma(4;0.011) 29 83 0 0 1 0 0 LINC01317 104355287 broad.mit.edu 37 2 33952131 33952131 + RNA SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:33952131C>T ENST00000366209.2 + 0 68 MYADML_ENST00000474610.1_RNA ACCAGGTGGGCAGAGTACACC 0.552000 6 19 0 0 1 0 0 SOX6 55553 broad.mit.edu 37 11 16010593 16010593 + Missense_Mutation SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:16010593A>T ENST00000352083.6 - 14 1993 c.1916T>A c.(1915-1917)aTc>aAc p.I639N SOX6_ENST00000316399.6_Missense_Mutation_p.I619N|SOX6_ENST00000528252.1_Missense_Mutation_p.I612N|SOX6_ENST00000396356.3_Missense_Mutation_p.I619N|SOX6_ENST00000527619.1_Missense_Mutation_p.I615N|SOX6_ENST00000528429.1_Missense_Mutation_p.I639N P35712 SOX6_HUMAN SRY (sex determining region Y)-box 6 639 muscle organ development nucleus sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2) 43 GGCCTGAAGGATTTTTCTCCT 0.517000 OREG0020800 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 184 0 0 1 0 0 ZMYND8 23613 broad.mit.edu 37 20 45875172 45875172 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:45875172A>G ENST00000311275.7 - 14 2057 c.1804T>C c.(1804-1806)Tat>Cat p.Y602H ZMYND8_ENST00000458360.2_Missense_Mutation_p.Y597H|ZMYND8_ENST00000461685.1_Missense_Mutation_p.Y622H|ZMYND8_ENST00000355972.4_Missense_Mutation_p.Y602H|ZMYND8_ENST00000446994.2_Missense_Mutation_p.Y539H|ZMYND8_ENST00000352431.2_Missense_Mutation_p.Y622H|ZMYND8_ENST00000471951.2_Missense_Mutation_p.Y622H|ZMYND8_ENST00000360911.3_Missense_Mutation_p.Y597H|ZMYND8_ENST00000262975.4_Missense_Mutation_p.Y602H|ZMYND8_ENST00000372023.3_Missense_Mutation_p.Y597H|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000536340.1_Missense_Mutation_p.Y629H|ZMYND8_ENST00000540497.1_Missense_Mutation_p.Y550H|ZMYND8_ENST00000396281.4_Missense_Mutation_p.Y602H Q9ULU4 PKCB1_HUMAN zinc finger, MYND-type containing 8 602 protein binding|zinc ion binding NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8) 62 Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154) TCACTGATATACTCACTATCG 0.418000 48 104 0 0 1 0 0 AAGAB 79719 broad.mit.edu 37 15 67496391 67496391 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:67496391C>T ENST00000261880.5 - 8 915 c.811G>A c.(811-813)Gaa>Aaa p.E271K AAGAB_ENST00000542650.1_Missense_Mutation_p.E162K|AAGAB_ENST00000538028.1_5'UTR|AAGAB_ENST00000561452.1_Missense_Mutation_p.E162K NM_001271885.1|NM_001271886.1|NM_024666.3 NP_001258814.1|NP_001258815.1|NP_078942.3 Q6PD74 AAGAB_HUMAN alpha- and gamma-adaptin binding protein 271 protein transport cytoplasm breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1) 9 CCTTTCATTTCCTTTAACTTT 0.363000 7 22 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 90020655 90020655 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:90020655T>C ENST00000405460.2 + 46 9851 c.9755T>C c.(9754-9756)aTg>aCg p.M3252T NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 3252 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TCAGGGGGAATGGATGTTGTG 0.299000 49 133 0 0 1 0 0 CELF4 56853 broad.mit.edu 37 18 34850864 34850864 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr18:34850864C>T ENST00000420428.2 - 8 1361 c.966G>A c.(964-966)ccG>ccA p.P322P CELF4_ENST00000361795.5_Silent_p.P320P|CELF4_ENST00000412753.1_Silent_p.P321P|CELF4_ENST00000334919.5_Silent_p.P312P|CELF4_ENST00000591282.1_Silent_p.P322P|CELF4_ENST00000603232.1_Silent_p.P321P|CELF4_ENST00000591287.1_Silent_p.P321P|CELF4_ENST00000601019.1_Silent_p.P320P|CELF4_ENST00000588597.1_Silent_p.P311P NM_020180.3 NP_064565.1 Q9BZC1 CELF4_HUMAN CUGBP, Elav-like family member 4 322 embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 44 CAGTGATGCCCGGAGGGGTGC 0.622000 7 25 0 0 1 0 0 SPATS2 65244 broad.mit.edu 37 12 49888751 49888751 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:49888751C>T ENST00000553127.1 + 8 1005 c.492C>T c.(490-492)ccC>ccT p.P164P SPATS2_ENST00000552918.1_Silent_p.P164P|SPATS2_ENST00000321898.6_Silent_p.P164P|SPATS2_ENST00000552557.1_3'UTR Q86XZ4 SPAS2_HUMAN spermatogenesis associated, serine-rich 2 164 cytoplasm breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4) 21 TGGAGGATCCCGAGTCTGCCA 0.438000 12 100 0 0 1 0 0 BRD3 8019 broad.mit.edu 37 9 136907048 136907048 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:136907048T>C ENST00000303407.7 - 8 1426 c.1241A>G c.(1240-1242)aAg>aGg p.K414R BRD3_ENST00000371834.2_Missense_Mutation_p.K414R|BRD3_ENST00000357885.2_Missense_Mutation_p.K414R NM_007371.3 NP_031397.1 Q15059 BRD3_HUMAN bromodomain containing 3 414 nucleus protein binding BRD3/C15orf55(3) kidney(1)|skin(1)|stomach(4) 6 OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07) ATCTGGCATCTTGGCAAACCT 0.652000 T C15orf55 lethal midline carcinoma of young people 5 28 0 0 1 0 0 LILRA5 353514 broad.mit.edu 37 19 54822643 54822643 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:54822643G>A ENST00000446712.3 - 4 795 c.717C>T c.(715-717)agC>agT p.S239S LILRA5_ENST00000346508.3_Intron|AC008984.2_ENST00000507363.1_RNA|LILRA5_ENST00000432233.3_Silent_p.S251S|LILRA5_ENST00000301219.3_Intron NM_181986.2 NP_871715.1 A6NI73 LIRA5_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5 0 innate immune response extracellular region|integral to membrane receptor activity breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 20 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) AACCTGTCTGGCTTCCCTGAA 0.517000 25 71 0 0 1 0 0 UBE3C 9690 broad.mit.edu 37 7 156979697 156979697 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:156979697T>C ENST00000348165.5 + 10 1673 c.1313T>C c.(1312-1314)aTg>aCg p.M438T UBE3C_ENST00000389103.4_Missense_Mutation_p.M395T NM_014671.2 NP_055486.2 Q15386 UBE3C_HUMAN ubiquitin protein ligase E3C 438 protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus|proteasome complex protein binding|ubiquitin-protein ligase activity central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1) 63 all_hematologic(28;0.0185)|all_epithelial(9;0.0664) OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.19) CAGCACCGCATGATGGTACCC 0.597000 7 20 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140487363 140487363 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:140487363A>G ENST00000288602.6 - 9 1222 c.1162T>C c.(1162-1164)Ttt>Ctt p.F388L NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 388 activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCACCACGAAATCCTTGGTCT 0.338000 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 16 113 0 0 1 0 0 KIF1C 10749 broad.mit.edu 37 17 4925505 4925505 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:4925505G>A ENST00000320785.5 + 22 2486 c.2129G>A c.(2128-2130)cGc>cAc p.R710H KIF1C_ENST00000573815.1_3'UTR NM_006612.5 NP_006603.2 O43896 KIF1C_HUMAN kinesin family member 1C 710 microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER endoplasmic reticulum|Golgi apparatus|microtubule ATP binding|microtubule motor activity NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3) 30 ATTGTCAAACGCTGTGGTCTG 0.647000 17 56 0 0 1 0 0 SHKBP1 92799 broad.mit.edu 37 19 41089339 41089339 + Silent SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:41089339G>T ENST00000291842.5 + 11 1045 c.996G>T c.(994-996)gcG>gcT p.A332A SHKBP1_ENST00000600733.1_Silent_p.A307A NM_138392.3 NP_612401.2 Q8TBC3 SHKB1_HUMAN SH3KBP1 binding protein 1 332 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1) 29 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) GTTATGACGCGGCAGGCTCCT 0.652000 6 11 3.59834e-05 3.66827e-05 1 1 0 UBE4B 10277 broad.mit.edu 37 1 10231324 10231324 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:10231324A>G ENST00000377157.3 + 24 3788 c.2727A>G c.(2725-2727)caA>caG p.Q909Q UBE4B_ENST00000343090.6_Silent_p.Q1154Q|UBE4B_ENST00000253251.8_Silent_p.Q1025Q NM_006048.4 NP_006039.2 O95155 UBE4B_HUMAN ubiquitination factor E4B 1154 apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV cytoplasm|ubiquitin ligase complex enzyme binding NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 48 all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046) TGTTGGACCAACTGACGGATA 0.473000 43 137 0 0 1 0 0 FBN2 2201 broad.mit.edu 37 5 127599186 127599186 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:127599186T>C ENST00000508053.1 - 69 9097 c.8123A>G c.(8122-8124)tAc>tGc p.Y2708C FBN2_ENST00000262464.4_Missense_Mutation_p.Y2708C P35556 FBN2_HUMAN fibrillin 2 2708 EGF-like 47; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) AGAGCAGCCGTAATTGCAGGG 0.597000 65 188 0 0 1 0 0 PCDHA8 56140 broad.mit.edu 37 5 140221772 140221772 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:140221772T>C ENST00000531613.1 + 1 866 c.866T>C c.(865-867)gTt>gCt p.V289A PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.V289A|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron NM_018911.2 NP_061734.1 NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAAACTATGGTTATTGACCAC 0.378000 29 88 0 0 1 0 0 RBMXL2 27288 broad.mit.edu 37 11 7111242 7111242 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:7111242G>A ENST00000306904.5 + 1 1078 c.891G>A c.(889-891)ggG>ggA p.G297G NM_014469.4 NP_055284.3 O75526 HNRGT_HUMAN RNA binding motif protein, X-linked-like 2 297 Arg/Gly/Pro-rich. nucleus|ribonucleoprotein complex nucleotide binding|RNA binding p.G297V(1) NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) CAGGACGGGGGACACCGCCAT 0.657000 17 33 0 0 1 0 0 KY 339855 broad.mit.edu 37 3 134338061 134338061 + Missense_Mutation SNP T T G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:134338061T>G ENST00000508956.1 - 7 633 c.576A>C c.(574-576)aaA>aaC p.K192N KY_ENST00000503669.1_Missense_Mutation_p.K213N|KY_ENST00000423778.2_Missense_Mutation_p.K213N|KY_ENST00000508041.1_5'UTR Q8NBH2 KY_HUMAN kyphoscoliosis peptidase 213 cytoskeleton|Z disc peptidase activity central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2) 21 TGTCAGTGGGTTTGAAGGCTT 0.557000 48 92 0 0 1 0 0 SDHAF2 54949 broad.mit.edu 37 11 61213520 61213520 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:61213520T>C ENST00000301761.2 + 4 552 c.478T>C c.(478-480)Tac>Cac p.Y160H SDHAF2_ENST00000537782.1_3'UTR|RP11-286N22.8_ENST00000544880.1_Intron|SDHAF2_ENST00000543265.1_3'UTR|RP11-286N22.8_ENST00000543044.1_Missense_Mutation_p.Y148H|SDHAF2_ENST00000542074.1_3'UTR NM_017841.2 NP_060311.1 Q9NX18 SDHF2_HUMAN succinate dehydrogenase complex assembly factor 2 160 mitochondrial electron transport, succinate to ubiquinone|protein-FAD linkage mitochondrion protein binding large_intestine(3)|lung(4)|ovary(2) 9 AGATCTTGAGTACCTCTTTGA 0.488000 OREG0021000 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 34 100 0 0 1 0 0 NCOR2 9612 broad.mit.edu 37 12 124911256 124911256 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:124911256C>T ENST00000356219.3 - 12 1395 c.1240G>A c.(1240-1242)Ggg>Agg p.G414R NCOR2_ENST00000429285.2_Missense_Mutation_p.G413R|NCOR2_ENST00000405201.1_Missense_Mutation_p.G414R|NCOR2_ENST00000404121.2_5'UTR|NCOR2_ENST00000404621.1_Missense_Mutation_p.G413R|NCOR2_ENST00000397355.1_Missense_Mutation_p.G414R NM_006312.5 NP_006303.4 Q9Y618 NCOR2_HUMAN nuclear receptor corepressor 2 414 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) GCCATAAGCCCGTTCATGTTG 0.572000 47 82 0 0 1 0 0 OSBPL2 9885 broad.mit.edu 37 20 60838714 60838714 + Silent SNP C C T rs146206209 byFrequency TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:60838714C>T ENST00000313733.3 + 4 427 c.225C>T c.(223-225)agC>agT p.S75S OSBPL2_ENST00000358053.2_Silent_p.S63S|OSBPL2_ENST00000439951.2_5'UTR NM_144498.1 NP_653081.1 Q9H1P3 OSBL2_HUMAN oxysterol binding protein-like 2 75 lipid transport lipid binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 17 Breast(26;7.76e-09) BRCA - Breast invasive adenocarcinoma(19;1.33e-06) GCGACTTCAGCGTGTGGACCA 0.582000 28 112 0 0 1 0 0 DENND4C 55667 broad.mit.edu 37 9 19332077 19332077 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:19332077T>C ENST00000380432.2 + 13 1680 c.1647T>C c.(1645-1647)tgT>tgC p.C549C DENND4C_ENST00000307015.9_5'UTR|DENND4C_ENST00000602925.1_Silent_p.C785C|DENND4C_ENST00000434457.2_Silent_p.C785C|DENND4C_ENST00000540671.1_Intron NM_017925.4 NP_060395.5 Q5VZ89 DEN4C_HUMAN DENN/MADD domain containing 4C 549 integral to membrane breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 GGTTTATTTGTCTTCCGGCCT 0.383000 21 49 0 0 1 0 0 EME1 146956 broad.mit.edu 37 17 48457820 48457820 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:48457820T>C ENST00000393271.2 + 8 1615 c.1533T>C c.(1531-1533)agT>agC p.S511S EME1_ENST00000511648.2_Silent_p.S511S|EME1_ENST00000338165.4_Silent_p.S498S NM_001166131.1 NP_001159603.1 Q96AY2 EME1_HUMAN essential meiotic structure-specific endonuclease 1 498 DNA recombination|DNA repair nucleolus DNA binding|endonuclease activity|metal ion binding|protein binding endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1) 19 Breast(11;5.62e-19) BRCA - Breast invasive adenocarcinoma(22;2.43e-08) AAATGGCCAGTGCAGTTGTGA 0.622000 Direct reversal of damage;Homologous recombination 15 70 0 0 1 0 0 IGFALS 3483 broad.mit.edu 37 16 1841065 1841065 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:1841065G>A ENST00000415638.3 - 2 1547 c.1468C>T c.(1468-1470)Cgc>Tgc p.R490C IGFALS_ENST00000215539.3_Missense_Mutation_p.R452C NM_001146006.1|NM_004970.2 NP_001139478.1|NP_004961.1 P35858 ALS_HUMAN insulin-like growth factor binding protein, acid labile subunit 452 cell adhesion|signal transduction soluble fraction insulin-like growth factor binding endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 8 TGGAAGAGGCGGTGGGGCAGG 0.706000 12 23 0 0 1 0 0 C11orf30 56946 broad.mit.edu 37 11 76169245 76169245 + Missense_Mutation SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:76169245C>A ENST00000529032.1 + 4 264 c.264C>A c.(262-264)agC>agA p.S88R C11orf30_ENST00000343878.3_Missense_Mutation_p.S88R|C11orf30_ENST00000525919.1_Missense_Mutation_p.S88R|C11orf30_ENST00000525959.1_3'UTR|C11orf30_ENST00000533248.1_Missense_Mutation_p.S102R|C11orf30_ENST00000524490.1_Missense_Mutation_p.S88R|C11orf30_ENST00000524767.1_Missense_Mutation_p.S102R|C11orf30_ENST00000334736.3_Missense_Mutation_p.S88R|C11orf30_ENST00000525038.1_Missense_Mutation_p.S102R Q7Z589 EMSY_HUMAN chromosome 11 open reading frame 30 88 ENT.|Interaction with BRCA2. chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2) 60 GACCTAATAGCTCTTCAGAAT 0.408000 21 100 6.33239e-15 6.63078e-15 1 1 0 CNOT8 9337 broad.mit.edu 37 5 154250343 154250343 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:154250343T>C ENST00000517876.1 + 5 910 c.434T>C c.(433-435)gTg>gCg p.V145A CNOT8_ENST00000523698.1_Missense_Mutation_p.V39A|CNOT8_ENST00000524105.1_Intron|CNOT8_ENST00000519404.1_Intron|CNOT8_ENST00000521450.1_Missense_Mutation_p.V39A|CNOT8_ENST00000521583.1_Missense_Mutation_p.V39A|CNOT8_ENST00000403027.2_Missense_Mutation_p.V145A|CNOT8_ENST00000285896.6_Missense_Mutation_p.V145A|CNOT8_ENST00000520671.1_Missense_Mutation_p.V39A Q9UFF9 CNOT8_HUMAN CCR4-NOT transcription complex, subunit 8 145 negative regulation of cell proliferation|nuclear-transcribed mRNA poly(A) tail shortening cytosol|nucleus nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 10 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) ACATCAGGAGTGGTTCTCTGT 0.443000 54 128 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49425038 49425038 + Nonsense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:49425038G>A ENST00000301067.7 - 39 13449 c.13450C>T c.(13450-13452)Cga>Tga p.R4484* NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D ATCTCAGCTCGCAGCCCCTCG 0.597000 96 128 0 0 1 0 0 CD2BP2 10421 broad.mit.edu 37 16 30365563 30365563 + Missense_Mutation SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:30365563C>A ENST00000305596.3 - 3 334 c.159G>T c.(157-159)gaG>gaT p.E53D CD2BP2_ENST00000569466.1_Missense_Mutation_p.E53D NM_006110.2 NP_006101.1 O95400 CD2B2_HUMAN CD2 (cytoplasmic tail) binding protein 2 53 assembly of spliceosomal tri-snRNP cytoplasm|nucleoplasm|U5 snRNP protein binding|ribonucleoprotein binding p.E53D(2) breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1) 15 CATCATCATCCTCCTCCTCAT 0.517000 97 324 3.71036e-49 3.93822e-49 1 1 0 GLUD2 2747 broad.mit.edu 37 X 120182040 120182040 + Missense_Mutation SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chrX:120182040A>T ENST00000328078.1 + 1 579 c.502A>T c.(502-504)Atg>Ttg p.M168L NM_012084.3 NP_036216.2 P49448 DHE4_HUMAN glutamate dehydrogenase 2 168 glutamate biosynthetic process|glutamate catabolic process mitochondrial matrix ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1) 38 L-Glutamic Acid(DB00142)|NADH(DB00157) GGCTTCTCTGATGACATACAA 0.488000 41 46 0 0 1 0 0 AGAP6 414189 broad.mit.edu 37 10 51754188 51754188 + Splice_Site SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:51754188A>G ENST00000374056.4 + 3 724 c.327_splice c.e3+1 p.H109_splice AGAP6_ENST00000412531.3_Splice_Site_p.H132_splice C9IYN2 C9IYN2_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 6 132 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding p.H132R(4) NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2) 29 TGTACAAACCATGTAAGTAAA 0.299000 4 58 0 0 1 0 0 PLCL2 23228 broad.mit.edu 37 3 17084409 17084409 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:17084409T>C ENST00000418129.2 + 4 3149 c.2684T>C c.(2683-2685)gTa>gCa p.V895A PLCL2-AS1_ENST00000414844.2_RNA|PLCL2_ENST00000432376.1_Missense_Mutation_p.V895A|PLCL2_ENST00000396755.2_Missense_Mutation_p.V895A NM_001144382.1 NP_001137854.1 Q9UPR0 PLCL2_HUMAN phospholipase C-like 2 1021 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 43 GCAGATGCTGTATATGAAAAG 0.393000 4 215 0 0 1 0 0 ZNF783 100289678 broad.mit.edu 37 7 148975579 148975579 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:148975579G>A ENST00000434415.1 + 5 926 c.763G>A c.(763-765)Gac>Aac p.D255N ZNF783_ENST00000489518.1_3'UTR NM_001195220.1 NP_001182149.1 C9J9J2 C9J9J2_HUMAN zinc finger family member 783 255 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1) 22 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.0014) GCAGCAGCAGGACTCAGAGGC 0.637000 12 28 0 0 1 0 0 UFL1 23376 broad.mit.edu 37 6 96996134 96996134 + Silent SNP G G A rs73757900 byFrequency TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:96996134G>A ENST00000369278.4 + 13 1563 c.1497G>A c.(1495-1497)tcG>tcA p.S499S NM_015323.4 NP_056138.1 O94874 UFL1_HUMAN UFM1-specific ligase 1 499 negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation endoplasmic reticulum|nucleus protein binding|UFM1 conjugating enzyme activity AGTTTATTTCGGAACTTGCTG 0.299000 4 31 0 0 1 0 0 PKD1L1 168507 broad.mit.edu 37 7 47947813 47947813 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:47947813G>A ENST00000289672.2 - 9 1313 c.1263C>T c.(1261-1263)aaC>aaT p.N421N NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 421 cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 CATGAAACTCGTTATAAATAA 0.408000 22 51 0 0 1 0 0 EPB41L5 57669 broad.mit.edu 37 2 120903814 120903814 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:120903814A>G ENST00000263713.5 + 20 1956 c.1742A>G c.(1741-1743)gAt>gGt p.D581G EPB41L5_ENST00000452780.1_Missense_Mutation_p.D581G|EPB41L5_ENST00000443902.2_Missense_Mutation_p.D581G NM_020909.3 NP_065960.2 Q9HCM4 E41L5_HUMAN erythrocyte membrane protein band 4.1 like 5 581 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1) 26 ACAAAAGAAGATAGCTTATTA 0.294000 7 19 0 0 1 0 0 ABCC12 94160 broad.mit.edu 37 16 48173142 48173142 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:48173142C>T ENST00000311303.3 - 5 1108 c.763G>A c.(763-765)Gcc>Acc p.A255T ABCC12_ENST00000416054.1_Missense_Mutation_p.A255T|ABCC12_ENST00000448542.1_Missense_Mutation_p.A255T NM_033226.2 NP_150229.2 Q96J65 MRP9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 12 255 ABC transmembrane type-1 1. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1) 90 all_cancers(37;0.0474)|all_lung(18;0.047) ATGAAAAAGGCGTACGCCGCA 0.473000 5 163 0 0 1 0 0 PTPRE 5791 broad.mit.edu 37 10 129866425 129866425 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:129866425A>G ENST00000254667.3 + 12 1161 c.882A>G c.(880-882)tcA>tcG p.S294S PTPRE_ENST00000430713.2_3'UTR|PTPRE_ENST00000419012.2_Silent_p.S294S|PTPRE_ENST00000306042.5_Silent_p.S236S NM_006504.4 NP_006495.1 P23469 PTPRE_HUMAN protein tyrosine phosphatase, receptor type, E 294 Tyrosine-protein phosphatase 1. negative regulation of insulin receptor signaling pathway|protein phosphorylation cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane transmembrane receptor protein tyrosine phosphatase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 22 all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203) GGCTGGTCTCACAGCTGCACT 0.617000 34 89 0 0 1 0 0 PRUNE2 158471 broad.mit.edu 37 9 79322842 79322842 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:79322842T>C ENST00000428286.1 - 8 4471 c.3271A>G c.(3271-3273)Atg>Gtg p.M1091V PRUNE2_ENST00000376718.3_Missense_Mutation_p.M1450V Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 1450 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 GTGAAATTCATCCCATCTGAA 0.423000 31 71 0 0 1 0 0 ZNF780B 163131 broad.mit.edu 37 19 40540844 40540844 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:40540844A>G ENST00000434248.1 - 5 1987 c.1922T>C c.(1921-1923)tTt>tCt p.F641S ZNF780B_ENST00000221355.6_Missense_Mutation_p.F493S NM_001005851.2 NP_001005851.1 Q9Y6R6 Z780B_HUMAN zinc finger protein 780B 641 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 23 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) TTTACATTTAAATGGCTTCTC 0.408000 5 200 0 0 1 0 0 EVC2 132884 broad.mit.edu 37 4 5627482 5627482 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:5627482T>C ENST00000310917.2 - 13 2531 c.1800A>G c.(1798-1800)ctA>ctG p.L600L EVC2_ENST00000344408.5_Silent_p.L680L|EVC2_ENST00000344938.1_Silent_p.L680L NM_001166136.1 NP_001159608.1 Q86UK5 LBN_HUMAN Ellis van Creveld syndrome 2 680 integral to membrane NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 81 ATACCTTTTGTAGCAACTCTC 0.388000 22 53 0 0 1 0 0 DNTTIP2 30836 broad.mit.edu 37 1 94342347 94342347 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:94342347G>A ENST00000436063.2 - 2 1201 c.1144C>T c.(1144-1146)Ccc>Tcc p.P382S DNTTIP2_ENST00000460191.1_5'UTR NM_014597.4 NP_055412.2 Q5QJE6 TDIF2_HUMAN deoxynucleotidyltransferase, terminal, interacting protein 2 382 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 38 all_lung(203;0.0111)|Lung NSC(277;0.0347) all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128) GCTTTTATGGGGCTCTTTTTG 0.393000 4 220 0 0 1 0 0 BDP1 55814 broad.mit.edu 37 5 70858308 70858308 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:70858308T>C ENST00000358731.4 + 38 7967 c.7704T>C c.(7702-7704)atT>atC p.I2568I BDP1_ENST00000380675.2_3'UTR NM_018429.2 NP_060899.2 A6H8Y1 BDP1_HUMAN B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB 2568 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) CAAGTGTTATTACTACTCAAT 0.353000 21 47 0 0 1 0 0 WDR11 55717 broad.mit.edu 37 10 122664230 122664230 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:122664230G>A ENST00000263461.6 + 25 3346 c.3100G>A c.(3100-3102)Gcc>Acc p.A1034T WDR11_ENST00000604509.1_3'UTR NM_018117.11 NP_060587.8 Q9BZH6 WDR11_HUMAN WD repeat domain 11 1034 integral to membrane breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5) 38 TTCACTGAAAGCCTGTTTAGT 0.443000 4 112 0 0 1 0 0 DES 1674 broad.mit.edu 37 2 220284873 220284873 + Missense_Mutation SNP G G A rs144261171 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:220284873G>A ENST00000373960.3 + 2 721 c.635G>A c.(634-636)cGa>cAa p.R212Q NM_001927.3 NP_001918.3 P17661 DESM_HUMAN desmin 212 Coil 1B.|Rod. cytoskeleton organization|muscle filament sliding|regulation of heart contraction cytosol|Z disc protein binding|structural constituent of cytoskeleton p.R212Q(1) breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1) 18 Renal(207;0.0183) Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008) GCTGCCTTCCGAGCGGTGAGT 0.577000 29 84 0 0 1 0 0 MRGPRD 116512 broad.mit.edu 37 11 68748329 68748329 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:68748329C>T ENST00000309106.3 - 1 126 c.127G>A c.(127-129)Gca>Aca p.A43T NM_198923.2 NP_944605.2 Q8TDS7 MRGRD_HUMAN MAS-related GPR, member D 43 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2) 22 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) CTGTTGCCTGCCATCCCGCAC 0.592000 16 66 0 0 1 0 0 NPAP1 23742 broad.mit.edu 37 15 24922233 24922233 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:24922233A>G ENST00000329468.2 + 1 1693 c.1219A>G c.(1219-1221)Acc>Gcc p.T407A NM_018958.2 NP_061831.2 nuclear pore associated protein 1 ACCTGTGCAGACCACAGACTC 0.537000 21 62 0 0 1 0 0 SLC12A7 10723 broad.mit.edu 37 5 1064202 1064202 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:1064202T>C ENST00000264930.5 - 19 2646 c.2603A>G c.(2602-2604)cAc>cGc p.H868R NM_006598.2 NP_006589.2 Q9Y666 S12A7_HUMAN solute carrier family 12 (potassium/chloride transporter), member 7 868 potassium ion transport|sodium ion transport integral to plasma membrane potassium:chloride symporter activity breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 32 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09) Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165) Potassium Chloride(DB00761) CCCCACCTTGTGCTGGCGCAG 0.716000 7 36 0 0 1 0 0 TUBGCP4 27229 broad.mit.edu 37 15 43663574 43663574 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:43663574G>A ENST00000564079.1 + 1 262 c.22G>A c.(22-24)Gct>Act p.A8T TUBGCP4_ENST00000570081.1_Intron|TUBGCP4_ENST00000260383.7_Missense_Mutation_p.A8T NM_014444.2 NP_055259.2 Q9UGJ1 GCP4_HUMAN tubulin, gamma complex associated protein 4 8 G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole structural constituent of cytoskeleton breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2) 21 all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;3.53e-07) ACTGCTCTTGGCTCTGAGCGG 0.647000 OREG0023087 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 25 0 0 1 0 0 OLFM2 93145 broad.mit.edu 37 19 9967507 9967507 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:9967507C>T ENST00000264833.4 - 5 848 c.663G>A c.(661-663)acG>acA p.T221T OLFM2_ENST00000590841.1_Silent_p.T143T NM_058164.2 NP_477512.1 O95897 NOE2_HUMAN olfactomedin 2 221 Olfactomedin-like. extracellular region breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 31 TGGGGGCCATCGTGTCAGTCA 0.662000 10 22 0 0 1 0 0 BANP 54971 broad.mit.edu 37 16 88052189 88052189 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:88052189G>A ENST00000393207.1 + 7 1008 c.787G>A c.(787-789)Gag>Aag p.E263K BANP_ENST00000286122.7_Missense_Mutation_p.E263K|BANP_ENST00000355163.5_Missense_Mutation_p.E238K|BANP_ENST00000538234.1_Missense_Mutation_p.E271K|BANP_ENST00000393208.2_Missense_Mutation_p.E232K|BANP_ENST00000479780.2_Missense_Mutation_p.E232K|BANP_ENST00000355022.4_Missense_Mutation_p.E232K NM_001173543.1 NP_001167014.1 Q8N9N5 BANP_HUMAN BTG3 associated nuclear protein 263 BEN.|Interaction with CUX1 and HDAC1 (By similarity). cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1) 12 BRCA - Breast invasive adenocarcinoma(80;0.00551) CTTCCACCGCGAGGTGCAGGC 0.652000 5 19 0 0 1 0 0 ETS2 2114 broad.mit.edu 37 21 40186267 40186267 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr21:40186267T>C ENST00000360214.3 + 5 715 c.255T>C c.(253-255)gcT>gcC p.A85A ETS2_ENST00000360938.3_Silent_p.A85A NM_001256295.1 NP_001243224.1 P15036 ETS2_HUMAN v-ets avian erythroblastosis virus E26 oncogene homolog 2 85 PNT. positive regulation of transcription, DNA-dependent|skeletal system development nucleus protein binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 18 Prostate(19;6.33e-08)|all_epithelial(19;0.123) CCTTAAAAGCTACCTTCAGTG 0.512000 34 90 0 0 1 0 0 CECR1 51816 broad.mit.edu 37 22 17662422 17662422 + Missense_Mutation SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr22:17662422A>T ENST00000399839.1 - 10 1757 c.1487T>A c.(1486-1488)aTc>aAc p.I496N CECR1_ENST00000330232.4_Missense_Mutation_p.I255N|CECR1_ENST00000262607.3_Missense_Mutation_p.I496N|CECR1_ENST00000399837.2_Missense_Mutation_p.I496N|CECR1_ENST00000449907.2_Missense_Mutation_p.I454N Q9NZK5 CECR1_HUMAN cat eye syndrome chromosome region, candidate 1 496 adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process extracellular space|Golgi apparatus adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1) 25 all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106) CTTCTTCCAGATTTCCATGAA 0.522000 9 332 0 0 1 0 0 CDAN1 146059 broad.mit.edu 37 15 43023206 43023206 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:43023206A>G ENST00000356231.3 - 13 1947 c.1924T>C c.(1924-1926)Ttt>Ctt p.F642L NM_138477.2 NP_612486.2 Q8IWY9 CDAN1_HUMAN codanin 1 642 integral to membrane protein binding endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3) 24 all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;2.49e-07) AAAGCCACAAAGCCCAGGAAT 0.562000 37 112 0 0 1 0 0 ARFGEF2 10564 broad.mit.edu 37 20 47601376 47601376 + Splice_Site SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:47601376C>A ENST00000371917.4 + 15 2069 c.2070_splice c.e15+1 p.S690_splice NM_006420.2 NP_006411.2 Q9Y6D5 BIG2_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) 690 SEC7. exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction cytosol|Golgi membrane ARF guanyl-nucleotide exchange factor activity p.S690F(1) breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 63 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) CGCCTGGATTCCGTAAGGCTT 0.527000 35 119 3.90053e-15 4.08622e-15 1 1 0 SLITRK1 114798 broad.mit.edu 37 13 84453776 84453776 + Nonsense_Mutation SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr13:84453776C>A ENST00000377084.2 - 1 2752 c.1867G>T c.(1867-1869)Gga>Tga p.G623* NM_052910.1 NP_443142.1 Q96PX8 SLIK1_HUMAN SLIT and NTRK-like family, member 1 623 integral to membrane NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 80 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) AGCAGCAGTCCCGGGACCAAC 0.577000 8 29 0.00307968 0.00310584 1 1 0 TYK2 7297 broad.mit.edu 37 19 10464742 10464742 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:10464742A>G ENST00000525621.1 - 20 3365 c.2884T>C c.(2884-2886)Tac>Cac p.Y962H TYK2_ENST00000524462.1_Missense_Mutation_p.Y777H|TYK2_ENST00000264818.6_Missense_Mutation_p.Y962H NM_003331.4 NP_003322.3 P29597 TYK2_HUMAN tyrosine kinase 2 962 Protein kinase 2. intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytoskeleton|cytosol|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06) CAGCCCTTGTACTTGATGATG 0.647000 37 82 0 0 1 0 0 POU2F1 5451 broad.mit.edu 37 1 167384807 167384807 + Silent SNP G G A rs34658638 byFrequency TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:167384807G>A ENST00000367862.5 + 16 2263 c.2028G>A c.(2026-2028)gcG>gcA p.A676A POU2F1_ENST00000429375.2_Silent_p.A624A|POU2F1_ENST00000367866.2_Silent_p.A687A|POU2F1_ENST00000420254.3_Intron|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000541643.3_Silent_p.A664A NM_001198783.1 NP_001185712.1 P14859 PO2F1_HUMAN POU class 2 homeobox 1 664 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 30 TTGCCAATGCGGGAGGAGCCC 0.547000 13 127 0 0 1 0 0 RECK 8434 broad.mit.edu 37 9 36122906 36122906 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:36122906C>T ENST00000377966.3 + 21 3346 c.2780C>T c.(2779-2781)tCt>tTt p.S927F NM_021111.2 NP_066934.1 O95980 RECK_HUMAN reversion-inducing-cysteine-rich protein with kazal motifs 927 anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 32 LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228) GTCCCTCTCTCTGCCCTCATC 0.552000 6 165 0 0 1 0 0 TNNI2 7136 broad.mit.edu 37 11 1862298 1862298 + Missense_Mutation SNP G G C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:1862298G>C ENST00000381906.1 + 7 383 c.314G>C c.(313-315)gGc>gCc p.G105A TNNI2_ENST00000252898.7_Missense_Mutation_p.G105A|TNNI2_ENST00000381905.3_Missense_Mutation_p.G105A|TNNI2_ENST00000381911.1_Missense_Mutation_p.G105A NM_001145829.1 NP_001139301.1 P48788 TNNI2_HUMAN troponin I type 2 (skeletal, fast) 105 Involved in binding TNC and actin. muscle filament sliding|positive regulation of transcription, DNA-dependent|skeletal muscle contraction cytosol|nucleus|troponin complex actin binding|troponin T binding lung(8)|prostate(1)|urinary_tract(1) 10 all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) GATCTGCGGGGCAAGTTCAAG 0.677000 9 32 0 0 1 0 0 CDH6 1004 broad.mit.edu 37 5 31297440 31297440 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:31297440A>G ENST00000265071.2 + 4 833 c.568A>G c.(568-570)Aca>Gca p.T190A CDH6_ENST00000514738.1_Missense_Mutation_p.T135A NM_004932.3 NP_004923.1 P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 190 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 AGATGATCCAACATATGGGAA 0.368000 24 72 0 0 1 0 0 ARHGAP30 257106 broad.mit.edu 37 1 161021404 161021404 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:161021404G>A ENST00000368013.3 - 10 1440 c.1120C>T c.(1120-1122)Cct>Tct p.P374S ARHGAP30_ENST00000368015.1_Missense_Mutation_p.P197S|ARHGAP30_ENST00000368016.3_Missense_Mutation_p.P374S NM_001025598.1|NM_181720.2 NP_001020769.1|NP_859071.2 Q7Z6I6 RHG30_HUMAN Rho GTPase activating protein 30 374 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00122) TCTGCCTCAGGCTCCTGTTCA 0.652000 34 85 0 0 1 0 0 BTBD7 55727 broad.mit.edu 37 14 93712550 93712550 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:93712550A>G ENST00000334746.5 - 10 2511 c.2204T>C c.(2203-2205)gTa>gCa p.V735A BTBD7_ENST00000554565.1_Missense_Mutation_p.V384A|BTBD7_ENST00000393170.2_Missense_Mutation_p.V309A NM_001002860.2 NP_001002860.2 Q9P203 BTBD7_HUMAN BTB (POZ) domain containing 7 735 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) TGTACTGTTTACGCGACATCT 0.473000 53 202 0 0 1 0 0 CYFIP1 23191 broad.mit.edu 37 15 22929841 22929841 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:22929841A>G ENST00000313077.7 + 6 640 c.515A>G c.(514-516)gAc>gGc p.D172G CYFIP1_ENST00000560848.1_Missense_Mutation_p.D172G NM_014608.2 NP_055423.1 Q7L576 CYFP1_HUMAN cytoplasmic FMR1 interacting protein 1 172 axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome actin filament binding|Rac GTPase binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101) GCTGTGCTGGACGAGCTGAAG 0.577000 6 71 0 0 1 0 0 NCALD 83988 broad.mit.edu 37 8 102701613 102701613 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:102701613A>G ENST00000395923.1 - 6 965 c.506T>C c.(505-507)tTc>tCc p.F169S NCALD_ENST00000522951.1_Intron|NCALD_ENST00000311028.3_Missense_Mutation_p.F169S|NCALD_ENST00000220931.6_Missense_Mutation_p.F169S|NCALD_ENST00000519508.2_Missense_Mutation_p.F169S|NCALD_ENST00000521599.1_Missense_Mutation_p.F169S NM_001040627.1|NM_001040628.1|NM_001040629.1|NM_001040630.1 NP_001035717.1|NP_001035718.1|NP_001035719.1|NP_001035720.1 P61601 NCALD_HUMAN neurocalcin delta 169 EF-hand 4. synaptic transmission|vesicle-mediated transport clathrin coat of trans-Golgi network vesicle|cytosol actin binding|calcium ion binding|clathrin binding|tubulin binding endometrium(1)|large_intestine(2)|lung(4)|prostate(1) 8 all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05) all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699) TCCTCGGATGAACTCTTCCAG 0.602000 6 24 0 0 1 0 0 PLXNA1 5361 broad.mit.edu 37 3 126724000 126724000 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:126724000C>T ENST00000393409.2 + 6 1811 c.1811C>T c.(1810-1812)aCg>aTg p.T604M PLXNA1_ENST00000251772.4_Missense_Mutation_p.T581M NM_032242.3 NP_115618.3 Q9UIW2 PLXA1_HUMAN plexin A1 604 axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 67 GBM - Glioblastoma multiforme(114;0.155) GAGGACTTCACGGAATCTGAG 0.672000 14 31 0 0 1 0 0 WNK2 65268 broad.mit.edu 37 9 96069102 96069102 + Splice_Site SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:96069102T>C ENST00000297954.4 + 27 6369 c.6370_splice c.e27+1 p.S2123_splice WNK2_ENST00000395477.2_Splice_Site_p.S2086_splice|WNK2_ENST00000427277.2_Splice_Site_p.S1698_splice|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000349097.3_Splice_Site_p.S1735_splice|WNK2_ENST00000356055.3_3'UTR Q9Y3S1 WNK2_HUMAN WNK lysine deficient protein kinase 2 2123 intracellular protein kinase cascade ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2) 54 AACACAGCAGTAGTAATTATC 0.567000 5 303 0 0 1 0 0 USP31 57478 broad.mit.edu 37 16 23079773 23079773 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:23079773T>C ENST00000219689.7 - 16 3652 c.3653A>G c.(3652-3654)gAc>gGc p.D1218G USP31_ENST00000567975.1_Missense_Mutation_p.D511G NM_020718.3 NP_065769.3 Q70CQ4 UBP31_HUMAN ubiquitin specific peptidase 31 1218 Ser-rich. ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 57 GBM - Glioblastoma multiforme(48;0.0187) AGACTTGCTGTCCCTCTTCAA 0.612000 4 216 0 0 1 0 0 HSPA12A 259217 broad.mit.edu 37 10 118434729 118434729 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:118434729G>A ENST00000369209.3 - 12 1695 c.1591C>T c.(1591-1593)Cgc>Tgc p.R531C NM_025015.2 NP_079291.2 O43301 HS12A_HUMAN heat shock 70kDa protein 12A 531 ATP binding breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 32 all cancers(201;0.0158) GGCGACCGGCGCACCTTGATG 0.652000 27 55 0 0 1 0 0 CC2D1A 54862 broad.mit.edu 37 19 14040401 14040401 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:14040401T>C ENST00000318003.7 + 26 2879 c.2638T>C c.(2638-2640)Tac>Cac p.Y880H CC2D1A_ENST00000589606.1_Missense_Mutation_p.Y879H NM_017721.4 NP_060191.3 Q6P1N0 C2D1A_HUMAN coiled-coil and C2 domain containing 1A 880 positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus|plasma membrane DNA binding|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2) 27 OV - Ovarian serous cystadenocarcinoma(19;3.49e-23) GGCCCAGCAGTACCAGGACAT 0.662000 3 26 0 0 1 0 0 ZBTB6 10773 broad.mit.edu 37 9 125673354 125673354 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:125673354T>C ENST00000373659.3 - 2 1086 c.998A>G c.(997-999)aAa>aGa p.K333R NM_006626.5 NP_006617.1 Q15916 ZBTB6_HUMAN zinc finger and BTB domain containing 6 333 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(1)|skin(1) 11 TGTAAATGTTTTTCCGCACTG 0.448000 5 116 0 0 1 0 0 HDAC2 3066 broad.mit.edu 37 6 114270368 114270368 + Silent SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:114270368A>T ENST00000519065.1 - 7 1072 c.696T>A c.(694-696)ggT>ggA p.G232G HDAC2_ENST00000368632.2_Silent_p.G202G|HDAC2_ENST00000519108.1_Silent_p.G202G|HDAC2_ENST00000398283.2_Silent_p.G326G Q92769 HDAC2_HUMAN histone deacetylase 2 232 Histone deacetylase. blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2) 27 all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24) all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832) Vorinostat(DB02546) CATCATCTATACCATCTCTCA 0.303000 23 46 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124330404 124330404 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:124330404T>C ENST00000409039.3 + 30 5289 c.5264T>C c.(5263-5265)tTc>tCc p.F1755S NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 1755 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) GTTGATTCTTTCATAAGAGGC 0.468000 47 214 0 0 1 0 0 SETMAR 6419 broad.mit.edu 37 3 4355021 4355021 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:4355021A>G ENST00000358065.4 + 2 663 c.596A>G c.(595-597)cAt>cGt p.H199R SETMAR_ENST00000430981.1_Missense_Mutation_p.H199R|SETMAR_ENST00000425863.1_Intron|SUMF1_ENST00000534863.1_Intron NM_006515.3 NP_006506.3 Q53H47 SETMR_HUMAN SET domain and mariner transposase fusion gene 186 Histone-lysine N-methyltransferase.|SET. DNA integration|DNA repair|transposition, DNA-mediated chromosome|nucleus DNA binding|endonuclease activity|histone-lysine N-methyltransferase activity|transposase activity|zinc ion binding endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1) 9 Melanoma(143;0.0657) Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114) ATCAGGGAACATGTTTATAAT 0.358000 Chromatin Structure 9 90 0 0 1 0 0 MKRN3 7681 broad.mit.edu 37 15 23811044 23811044 + Missense_Mutation SNP G G A rs151216955 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:23811044G>A ENST00000314520.3 + 1 591 c.115G>A c.(115-117)Ggg>Agg p.G39R MKRN3_ENST00000568252.1_Missense_Mutation_p.G39R|MKRN3_ENST00000564592.1_Missense_Mutation_p.G39R NM_005664.3 NP_005655.1 Q13064 MKRN3_HUMAN makorin ring finger protein 3 39 ribonucleoprotein complex ligase activity|nucleic acid binding|zinc ion binding breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14) all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012) TGAGCCCTCCGGGGAATCTGC 0.687000 15 42 0 0 1 0 0 TNRC18 84629 broad.mit.edu 37 7 5348802 5348802 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:5348802G>A ENST00000399537.4 - 28 8934 c.8586C>T c.(8584-8586)ccC>ccT p.P2862P TNRC18_ENST00000430969.1_Silent_p.P2862P O15417 TNC18_HUMAN trinucleotide repeat containing 18 2862 BAH. DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8) 11 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) TGGTCTCCTCGGGGTGGTAGA 0.692000 12 46 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21677247 21677247 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:21677247G>A ENST00000328843.6 + 27 4790 c.4759G>A c.(4759-4761)Gcc>Acc p.A1587T DNAH11_ENST00000409508.3_Missense_Mutation_p.A1582T Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 1587 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 GTTCAAGACAGCCAAAGTAGA 0.318000 Kartagener syndrome 3 6 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179458948 179458948 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:179458948T>C ENST00000589042.1 - 297 58396 c.58172A>G c.(58171-58173)gAc>gGc p.D19391G TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D10326G|TTN_ENST00000342992.6_Missense_Mutation_p.D16823G|TTN_ENST00000591111.1_Missense_Mutation_p.D17750G|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D10451G|TTN_ENST00000342175.6_Missense_Mutation_p.D10518G|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 17750 Fibronectin type-III 40. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity 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) ATCTCTGAAGTCGAGGTGAAG 0.403000 5 81 0 0 1 0 0 MYO15A 51168 broad.mit.edu 37 17 18022349 18022349 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:18022349G>A ENST00000205890.5 + 2 573 c.235G>A c.(235-237)Gtg>Atg p.V79M NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 79 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) GGCCCGCACCGTGCTCAAGTC 0.617000 7 23 0 0 1 0 0 PLEKHG6 55200 broad.mit.edu 37 12 6436589 6436589 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:6436589C>T ENST00000449001.2 + 14 2238 c.1744C>T c.(1744-1746)Cgg>Tgg p.R582W PLEKHG6_ENST00000396988.3_Missense_Mutation_p.R614W|PLEKHG6_ENST00000011684.7_Missense_Mutation_p.R614W|PLEKHG6_ENST00000304581.8_Missense_Mutation_p.R144W NM_001144857.1 NP_001138329.1 Q3KR16 PKHG6_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 6 614 regulation of Rho protein signal transduction cleavage furrow|cytoplasm|spindle pole GTPase activator activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4) 23 AAGAGCCCTTCGGCGGGACCC 0.667000 50 226 0 0 1 0 0 CDH22 64405 broad.mit.edu 37 20 44815539 44815539 + Missense_Mutation SNP C C G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:44815539C>G ENST00000372262.3 - 8 1871 c.1471G>C c.(1471-1473)Gat>Cat p.D491H CDH22_ENST00000537909.1_Missense_Mutation_p.D491H NM_021248.1 NP_067071.1 Q9UJ99 CAD22_HUMAN cadherin 22, type 2 491 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 44 Myeloproliferative disorder(115;0.0122) TCGTTCACATCCAGGATTCGG 0.577000 62 230 0 0 1 0 0 DPYSL3 1809 broad.mit.edu 37 5 146798109 146798109 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:146798109C>T ENST00000343218.5 - 3 753 c.556G>A c.(556-558)Gtc>Atc p.V186I DPYSL3_ENST00000534907.1_Intron|DPYSL3_ENST00000398514.3_Missense_Mutation_p.V72I NM_001197294.1 NP_001184223.1 Q14195 DPYL3_HUMAN dihydropyrimidinase-like 3 72 axon guidance|pyrimidine base catabolic process|signal transduction cytosol|growth cone dihydropyrimidinase activity breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGAGTATGGACATCGATGCCT 0.483000 53 160 0 0 1 0 0 TRPV6 55503 broad.mit.edu 37 7 142571233 142571233 + Missense_Mutation SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:142571233C>A ENST00000359396.3 - 13 2001 c.1756G>T c.(1756-1758)Gcc>Tcc p.A586S NM_018646.3 NP_061116.2 Q9H1D0 TRPV6_HUMAN transient receptor potential cation channel, subfamily V, member 6 586 regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 42 Melanoma(164;0.059) CGCTCATGGGCCACTCGCCAG 0.592000 50 121 1.86633e-21 1.97029e-21 1 1 0 ARHGEF16 27237 broad.mit.edu 37 1 3395015 3395015 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:3395015C>T ENST00000378378.4 + 12 2058 c.1653C>T c.(1651-1653)taC>taT p.Y551Y ARHGEF16_ENST00000378373.1_Silent_p.Y263Y|ARHGEF16_ENST00000378371.2_Silent_p.Y263Y|ARHGEF16_ENST00000413250.2_Silent_p.Y255Y NM_014448.3 NP_055263.2 Q5VV41 ARHGG_HUMAN Rho guanine nucleotide exchange factor (GEF) 16 551 PH. activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction cytosol PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity lung(6)|ovary(1) 7 all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101) all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211) Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201) TCCAGGACTACGCCCAGATGA 0.662000 52 111 0 0 1 0 0 ZMYM2 7750 broad.mit.edu 37 13 20567602 20567602 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr13:20567602G>A ENST00000382869.3 + 3 641 c.390G>A c.(388-390)ggG>ggA p.G130G ZMYM2_ENST00000382871.2_Silent_p.G130G|ZMYM2_ENST00000382874.2_Silent_p.G130G|ZMYM2_ENST00000382881.3_Silent_p.G130G NM_001190965.1|NM_003453.3|NM_197968.2 NP_001177894.1|NP_003444.1|NP_932072.1 Q9UBW7 ZMYM2_HUMAN zinc finger, MYM-type 2 130 regulation of transcription, DNA-dependent|transcription, DNA-dependent PML body ubiquitin conjugating enzyme binding|zinc ion binding large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 10 all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856) CAAATCAAGGGCAAGAGAAAA 0.383000 16 67 0 0 1 0 0 ANKFY1 51479 broad.mit.edu 37 17 4086789 4086789 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:4086789A>G ENST00000341657.4 - 14 1891 c.1856T>C c.(1855-1857)aTg>aCg p.M619T ANKFY1_ENST00000570535.1_Missense_Mutation_p.M661T|CYB5D2_ENST00000573984.1_Intron|ANKFY1_ENST00000574367.1_Missense_Mutation_p.M619T NM_016376.3 NP_057460.3 Q9P2R3 ANFY1_HUMAN ankyrin repeat and FYVE domain containing 1 619 endosome membrane metal ion binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 CCCATCCGACATGGTGTCATT 0.592000 35 86 0 0 1 0 0 ZNF414 84330 broad.mit.edu 37 19 8577283 8577283 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:8577283T>C ENST00000393927.4 - 4 631 c.518A>G c.(517-519)aAt>aGt p.N173S ZNF414_ENST00000255616.8_Missense_Mutation_p.N173S NM_001146175.1 NP_001139647.1 Q96IQ9 ZN414_HUMAN zinc finger protein 414 173 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding lung(2) 2 GAAGTAGCGATTGGGTTTGTA 0.602000 22 73 0 0 1 0 0 SMPD1 6609 broad.mit.edu 37 11 6412943 6412943 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:6412943G>A ENST00000342245.4 + 2 816 c.648G>A c.(646-648)ctG>ctA p.L216L SMPD1_ENST00000527275.1_Silent_p.L215L|SMPD1_ENST00000356761.2_Silent_p.L216L|SMPD1_ENST00000299397.3_Silent_p.L216L|SMPD1_ENST00000533196.1_Intron NM_000543.4|NM_001007593.2 NP_000534.3|NP_001007594.2 P17405 ASM_HUMAN sphingomyelin phosphodiesterase 1, acid lysosomal 214 cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction lysosome hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3) 23 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) Desipramine(DB01151) ATGACTACCTGGAGGGCACGG 0.682000 10 54 0 0 1 0 0 PELP1 27043 broad.mit.edu 37 17 4576371 4576371 + Nonsense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:4576371G>A ENST00000301396.4 - 16 2572 c.2347C>T c.(2347-2349)Cag>Tag p.Q783* PELP1_ENST00000574876.1_Nonsense_Mutation_p.Q639*|PELP1_ENST00000572293.1_Nonsense_Mutation_p.Q689*|PELP1_ENST00000436683.2_Nonsense_Mutation_p.Q492*|PELP1_ENST00000269230.7_Nonsense_Mutation_p.Q551* Q8IZL8 PELP1_HUMAN proline, glutamate and leucine rich protein 1 639 Pro-rich. transcription, DNA-dependent cytoplasm|MLL1 complex protein binding breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 15 CCCATGGGCTGCAGGGGAGGA 0.652000 15 29 0 0 1 0 0 GNPTAB 79158 broad.mit.edu 37 12 102142891 102142891 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:102142891A>G ENST00000299314.7 - 20 3943 c.3681T>C c.(3679-3681)ttT>ttC p.F1227F NM_024312.4 NP_077288.2 Q3T906 GNPTA_HUMAN N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits 1227 cell differentiation Golgi membrane|integral to membrane|nucleus metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 37 GCTCAGCAAAAAATGAGAATA 0.323000 19 119 0 0 1 0 0 KIF16B 55614 broad.mit.edu 37 20 16478291 16478291 + Missense_Mutation SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:16478291A>T ENST00000354981.2 - 11 1366 c.1209T>A c.(1207-1209)agT>agA p.S403R KIF16B_ENST00000355755.3_Missense_Mutation_p.S403R|KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000408042.1_Missense_Mutation_p.S403R NM_001199865.1|NM_024704.4 NP_001186794.1|NP_078980.3 Q96L93 KI16B_HUMAN kinesin family member 16B 403 cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling early endosome membrane|microtubule ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2) 74 TTTCCTCCATACTTAAAGCTG 0.303000 7 56 0 0 1 0 0 GOLGA3 2802 broad.mit.edu 37 12 133393322 133393322 + Silent SNP C C G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:133393322C>G ENST00000204726.3 - 3 768 c.210G>C c.(208-210)ggG>ggC p.G70G GOLGA3_ENST00000545875.1_Silent_p.G70G|GOLGA3_ENST00000456883.2_Silent_p.G70G|GOLGA3_ENST00000450791.2_Silent_p.G70G|GOLGA3_ENST00000537452.1_Silent_p.G70G NM_005895.3 NP_005886.2 Q08378 GOGA3_HUMAN golgin A3 70 Pro-rich. G -> E (in dbSNP:rs2291256). intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) GTGGCGTTGGCCCGTTCTGAC 0.627000 5 87 0 0 1 0 0 STRIP2 57464 broad.mit.edu 37 7 129096403 129096403 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:129096403C>T ENST00000249344.2 + 9 998 c.958C>T c.(958-960)Ccc>Tcc p.P320S STRIP2_ENST00000435494.2_Missense_Mutation_p.P320S NM_020704.2 NP_065755.1 striatin interacting protein 2 TGCCTCCCCGCCCTCTTACAC 0.597000 37 78 0 0 1 0 0 NR4A3 8013 broad.mit.edu 37 9 102590878 102590878 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:102590878G>A ENST00000330847.1 + 2 631 c.587G>A c.(586-588)gGc>gAc p.G196D NR4A3_ENST00000395097.2_Missense_Mutation_p.G185D|NR4A3_ENST00000338488.4_Missense_Mutation_p.G185D Q92570 NR4A3_HUMAN nuclear receptor subfamily 4, group A, member 3 185 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2) Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189) ACGGTGGCCGGCGCGCGCTTC 0.776000 T EWSR1 extraskeletal myxoid chondrosarcoma 5 5 0 0 1 0 0 SSFA2 6744 broad.mit.edu 37 2 182780567 182780567 + Missense_Mutation SNP C C G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:182780567C>G ENST00000431877.2 + 11 2379 c.2200C>G c.(2200-2202)Cta>Gta p.L734V SSFA2_ENST00000320370.7_Missense_Mutation_p.L734V|SSFA2_ENST00000409001.1_Missense_Mutation_p.L734V|SSFA2_ENST00000428267.2_Missense_Mutation_p.L581V|SSFA2_ENST00000409136.1_Missense_Mutation_p.L243V NM_001130445.1 NP_001123917.1 P28290 SSFA2_HUMAN sperm specific antigen 2 734 cytoplasm|plasma membrane actin binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 38 OV - Ovarian serous cystadenocarcinoma(117;0.0856) TGGCTATCCTCTAAGAAGGTC 0.423000 27 107 0 0 1 0 0 SFPQ 6421 broad.mit.edu 37 1 35653605 35653605 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:35653605T>C ENST00000357214.5 - 7 1882 c.1784A>G c.(1783-1785)gAa>gGa p.E595G NM_005066.2 NP_005057.1 P23246 SFPQ_HUMAN splicing factor proline/glutamine-rich 595 alternative nuclear mRNA splicing, via spliceosome|DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix|paraspeckles DNA binding|nucleotide binding|protein binding|RNA binding SFPQ/TFE3(6) NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 25 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196) GCTGTAACTTTCCTCTCTTTG 0.453000 T TFE3 papillary renal cell 40 155 0 0 1 0 0 AP5M1 55745 broad.mit.edu 37 14 57747082 57747082 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:57747082A>G ENST00000261558.3 + 3 1296 c.890A>G c.(889-891)tAc>tGc p.Y297C AP5M1_ENST00000556723.1_3'UTR|AP5M1_ENST00000431972.2_Missense_Mutation_p.Y311C NM_018229.3 NP_060699.3 Q9H0R1 MUDEN_HUMAN adaptor-related protein complex 5, mu 1 subunit 297 MHD. intracellular protein transport|vesicle-mediated transport clathrin adaptor complex AGTGGGCCTTACAAATTTCCA 0.388000 32 101 0 0 1 0 0 YAP1 10413 broad.mit.edu 37 11 102094469 102094469 + Missense_Mutation SNP T T A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:102094469T>A ENST00000282441.5 + 7 1537 c.1149T>A c.(1147-1149)gaT>gaA p.D383E YAP1_ENST00000531439.1_Missense_Mutation_p.D367E|YAP1_ENST00000537274.1_Missense_Mutation_p.D371E|YAP1_ENST00000524575.1_Missense_Mutation_p.D205E|YAP1_ENST00000345877.2_Missense_Mutation_p.D333E|YAP1_ENST00000526343.1_Missense_Mutation_p.D329E NM_001130145.2 NP_001123617.1 P46937 YAP1_HUMAN Yes-associated protein 1 383 Transactivation domain. cell proliferation|cellular response to gamma radiation|contact inhibition|hippo signaling cascade|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm|nucleus protein binding|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1) 4 all_cancers(8;0.000575)|all_epithelial(12;0.00564) Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936) Lung(13;0.245) BRCA - Breast invasive adenocarcinoma(274;0.0189) ATAGCTCAGATCCTTTCCTTA 0.433000 26 62 0 0 1 0 0 AGPAT6 137964 broad.mit.edu 37 8 41467239 41467239 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:41467239A>G ENST00000396987.3 + 4 1228 c.301A>G c.(301-303)Agt>Ggt p.S101G RP11-360L9.8_ENST00000581909.1_RNA NM_178819.3 NP_848934.1 Q86UL3 GPAT4_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 6 101 acyl-CoA metabolic process|lactation|phosphatidylcholine biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|membrane fraction glycerol-3-phosphate O-acyltransferase activity endometrium(3)|kidney(2)|large_intestine(3)|lung(6) 14 Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211) all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844) OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147) AAGTGGTAGTAGTAAGGCTCT 0.453000 35 152 0 0 1 0 0 IGHV3-38 28429 broad.mit.edu 37 14 106866531 106866531 + RNA SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:106866531T>C ENST00000390618.2 - 0 300 GCGTAGTATGTGCTACCACCA 0.532000 7 312 0 0 1 0 0 ALDOC 230 broad.mit.edu 37 17 26900911 26900911 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:26900911A>G ENST00000226253.4 - 8 1316 c.841T>C c.(841-843)Tca>Cca p.S281P RP11-192H23.5_ENST00000585189.1_RNA|ALDOC_ENST00000395319.3_Missense_Mutation_p.S253P|ALDOC_ENST00000395321.2_Missense_Mutation_p.S281P NM_005165.2 NP_005156.1 P09972 ALDOC_HUMAN aldolase C, fructose-bisphosphate 281 fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis cytosol cytoskeletal protein binding|fructose-bisphosphate aldolase activity breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 11 Lung NSC(42;0.00431) AGGTTGAATGATGCCTCTTCT 0.562000 4 134 0 0 1 0 0 NOLC1 9221 broad.mit.edu 37 10 103919045 103919045 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:103919045G>A ENST00000405356.1 + 6 938 c.703G>A c.(703-705)Gca>Aca p.A235T NOLC1_ENST00000488254.2_Missense_Mutation_p.A236T|NOLC1_ENST00000603742.1_5'UTR|NOLC1_ENST00000605788.1_Missense_Mutation_p.A235T Q14978 NOLC1_HUMAN nucleolar and coiled-body phosphoprotein 1 235 11 X 12 AA approximate repeats of an acidic serine cluster.|Interacts with RPA194. mitosis|rRNA processing cytoplasm|nucleolus ATP binding|GTP binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 31 Colorectal(252;0.122) Epithelial(162;5.19e-08)|all cancers(201;9.43e-07) GGAGGAGAAGGCAGCAGCCAC 0.547000 32 157 0 0 1 0 0 CABIN1 23523 broad.mit.edu 37 22 24479268 24479268 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr22:24479268T>C ENST00000398319.2 + 20 3221 c.2836T>C c.(2836-2838)Tgc>Cgc p.C946R CABIN1_ENST00000263119.5_Missense_Mutation_p.C946R|CABIN1_ENST00000405822.2_Missense_Mutation_p.C896R NM_001199281.1 NP_001186210.1 Q9Y6J0 CABIN_HUMAN calcineurin binding protein 1 946 cell surface receptor linked signaling pathway|chromatin modification nucleus protein phosphatase inhibitor activity breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 CTTGGAGCAGTGCTTCTACTG 0.582000 18 29 0 0 1 0 0 DTX4 23220 broad.mit.edu 37 11 58949498 58949498 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:58949498G>A ENST00000227451.3 + 2 602 c.498G>A c.(496-498)ggG>ggA p.G166G DTX4_ENST00000532982.1_Silent_p.G60G NM_015177.1 NP_055992.1 Q9Y2E6 DTX4_HUMAN deltex homolog 4 (Drosophila) 166 Notch signaling pathway cytoplasm zinc ion binding p.G60G(1) central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1) 20 all_epithelial(135;0.125) TGGTCACAGGGACCTTGCCTA 0.637000 23 79 0 0 1 0 0 PLEKHM3 389072 broad.mit.edu 37 2 208795811 208795811 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:208795811G>A ENST00000457206.1 - 5 2152 c.1725C>T c.(1723-1725)taC>taT p.Y575Y PLEKHM3_ENST00000427836.2_Silent_p.Y575Y|PLEKHM3_ENST00000389247.4_Silent_p.Y575Y Q6ZWE6 PKHM3_HUMAN pleckstrin homology domain containing, family M, member 3 575 intracellular signal transduction metal ion binding central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 CTTCGTACACGTACTCCAGAA 0.602000 32 88 0 0 1 0 0 OXCT2 64064 broad.mit.edu 37 1 40235542 40235542 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:40235542G>A ENST00000327582.5 - 1 1478 c.1386C>T c.(1384-1386)tgC>tgT p.C462C BMP8B_ENST00000372827.3_Intron|BMP8B_ENST00000397360.2_Intron NM_022120.1 NP_071403.1 Q9BYC2 SCOT2_HUMAN 3-oxoacid CoA transferase 2 462 ketone body catabolic process microtubule-based flagellum|mitochondrion 3-oxoacid CoA-transferase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|pancreas(1)|upper_aerodigestive_tract(1) 6 all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) Succinic acid(DB00139) TGCGGTCCACGCACCGCTTCC 0.587000 12 67 0 0 1 0 0 CTC1 80169 broad.mit.edu 37 17 8138525 8138525 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:8138525C>T ENST00000315684.8 - 8 1292 c.1285G>A c.(1285-1287)Gtt>Att p.V429I NM_025099.5 NP_079375.3 Q2NKJ3 CTC1_HUMAN CTS telomere maintenance complex component 1 429 positive regulation of DNA replication|telomere maintenance Stn1-Ten1 complex protein binding|single-stranded DNA binding NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4) 29 TGAAGCAGAACGGCGCCACGG 0.612000 31 89 0 0 1 0 0 ZNF624 57547 broad.mit.edu 37 17 16526165 16526165 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:16526165T>C ENST00000311331.7 - 6 2126 c.2035A>G c.(2035-2037)Aat>Gat p.N679D NM_020787.3 NP_065838.2 Q9P2J8 ZN624_HUMAN zinc finger protein 624 679 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1) 26 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) TGTGATGTATTAGTGAAGGCT 0.388000 35 94 0 0 1 0 0 ABCC9 10060 broad.mit.edu 37 12 22068689 22068689 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:22068689A>G ENST00000261200.4 - 5 728 c.729T>C c.(727-729)atT>atC p.I243I ABCC9_ENST00000345162.2_Silent_p.I243I|ABCC9_ENST00000261201.4_Silent_p.I243I NM_020297.2 NP_064693.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 243 defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) CCTTCAGATCAATAGGCTTTT 0.368000 26 113 0 0 1 0 0 DHX30 22907 broad.mit.edu 37 3 47859533 47859533 + Missense_Mutation SNP G G A rs138729543 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:47859533G>A ENST00000445061.1 + 4 457 c.50G>A c.(49-51)cGt>cAt p.R17H DHX30_ENST00000476446.1_3'UTR|DHX30_ENST00000348968.4_5'UTR|DHX30_ENST00000446256.2_5'UTR NM_138615.2 NP_619520.1 Q7L2E3 DHX30_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 30 17 mitochondrial nucleoid ATP binding|ATP-dependent helicase activity|protein binding|RNA binding p.R17H(1) endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3) 37 BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) cacaggcagcgtcagtgcaaa 0.607000 78 204 0 0 1 0 0 SERPINB8 5271 broad.mit.edu 37 18 61654228 61654228 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr18:61654228C>T ENST00000397985.2 + 7 1097 c.841C>T c.(841-843)Cct>Tct p.P281S SERPINB8_ENST00000353706.2_Missense_Mutation_p.P281S|SERPINB8_ENST00000542677.1_Missense_Mutation_p.P99S|SERPINB8_ENST00000493661.1_Intron NM_001276490.1 NP_001263419.1 P50452 SPB8_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 8 281 regulation of proteolysis cytosol protein binding|serine-type endopeptidase inhibitor activity breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1) 17 Esophageal squamous(42;0.129) TGACTTGGAGCCTTTCCTTCG 0.418000 29 89 0 0 1 0 0 FTO 79068 broad.mit.edu 37 16 53859936 53859936 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:53859936C>T ENST00000471389.1 + 3 506 c.284C>T c.(283-285)tCt>tTt p.S95F FTO_ENST00000394647.3_Intron NM_001080432.2 NP_001073901.1 Q9C0B1 FTO_HUMAN fat mass and obesity associated 95 Fe2OG dioxygenase domain. DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair nucleus DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 ACTCCGGTATCTCGCATCCTC 0.493000 23 76 0 0 1 0 0 ZNF718 255403 broad.mit.edu 37 4 155055 155055 + RNA SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:155055A>G ENST00000510175.1 + 0 490 Q3SXZ3 ZN718_HUMAN zinc finger protein 718 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18) AAGAATTCATACTGGAGAGAA 0.358000 13 41 0 0 1 0 0 LAMA5 3911 broad.mit.edu 37 20 60885589 60885589 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:60885589G>A ENST00000252999.3 - 76 10552 c.10486C>T c.(10486-10488)Ctg>Ttg p.L3496L NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 3496 Laminin G-like 4. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CTCCCGTGCAGCCTCAGTCTC 0.687000 41 107 0 0 1 0 0 SLC8A1 6546 broad.mit.edu 37 2 40397459 40397459 + Missense_Mutation SNP C C G rs148383040 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:40397459C>G ENST00000542756.1 - 6 2008 c.1985G>C c.(1984-1986)aGa>aCa p.R662T SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000408028.2_Missense_Mutation_p.R659T|SLC8A1_ENST00000406391.2_Intron|SLC8A1_ENST00000405269.1_Intron|SLC8A1_ENST00000402441.1_Intron|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1_ENST00000332839.4_Missense_Mutation_p.R667T|SLC8A1_ENST00000403092.1_Missense_Mutation_p.R667T|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000542024.1_Intron|SLC8A1_ENST00000405901.3_Missense_Mutation_p.R662T|SLC8A1_ENST00000406785.1_Intron P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 1 667 cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) CGGATGTTCTCTAGCATGAAC 0.423000 7 62 0 0 1 0 0 COL14A1 7373 broad.mit.edu 37 8 121293249 121293249 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:121293249T>C ENST00000297848.3 + 31 4045 c.3775T>C c.(3775-3777)Ttt>Ctt p.F1259L COL14A1_ENST00000247781.3_Missense_Mutation_p.F1164L|COL14A1_ENST00000309791.4_Missense_Mutation_p.F1259L NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 1259 Nonhelical region (NC4).|TSP N-terminal. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) CTTCAATGTGTTTCCATGTTA 0.358000 7 98 0 0 1 0 0 GRIA1 2890 broad.mit.edu 37 5 153078486 153078486 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:153078486C>T ENST00000285900.5 + 10 1648 c.1305C>T c.(1303-1305)taC>taT p.Y435Y GRIA1_ENST00000521843.2_Silent_p.Y366Y|GRIA1_ENST00000518783.1_Silent_p.Y445Y|GRIA1_ENST00000448073.4_Silent_p.Y445Y|GRIA1_ENST00000340592.5_Silent_p.Y435Y|GRIA1_ENST00000518142.1_Silent_p.Y355Y NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 435 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) ATGACCGTTACGAGGGCTACT 0.517000 18 78 0 0 1 0 0 DSC3 1825 broad.mit.edu 37 18 28586928 28586928 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr18:28586928A>G ENST00000434452.1 - 12 1987 c.1833T>C c.(1831-1833)agT>agC p.S611S DSC3_ENST00000360428.4_Silent_p.S611S NM_024423.2 NP_077741.2 Q14574 DSC3_HUMAN desmocollin 3 611 Cadherin 5. homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 OV - Ovarian serous cystadenocarcinoma(10;0.125) TATTGGGCAAACTGAAATAAA 0.343000 11 50 0 0 1 0 0 APC 324 broad.mit.edu 37 5 112103073 112103073 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:112103073A>G ENST00000457016.1 + 4 788 c.408A>G c.(406-408)gaA>gaG p.E136E APC_ENST00000508376.2_Silent_p.E136E|APC_ENST00000257430.4_Silent_p.E136E P25054 APC_HUMAN adenomatous polyposis coli 136 Leu-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20) 3261 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) ATTTAGAAGAACTTGAGAAAG 0.333000 12 """D, Mis, N, F, S""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis TSP Lung(16;0.13) 10 79 0 0 1 0 0 LIMK2 3985 broad.mit.edu 37 22 31673101 31673101 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr22:31673101A>G ENST00000340552.4 + 15 2266 c.2036A>G c.(2035-2037)aAg>aGg p.K679R LIMK2_ENST00000444929.2_Intron|LIMK2_ENST00000333611.4_Intron|LIMK2_ENST00000406516.1_Missense_Mutation_p.K622R|LIMK2_ENST00000331728.4_Intron|LIMK2_ENST00000467301.1_Intron NM_001031801.1 NP_001026971.1 P53671 LIMK2_HUMAN LIM domain kinase 2 0 mitochondrion|nucleus ATP binding|protein serine/threonine kinase activity|zinc ion binding endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1) 29 GCCATGCAGAAGCTGAGCACA 0.597000 17 79 0 0 1 0 0 FOXJ2 55810 broad.mit.edu 37 12 8192624 8192624 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:8192624A>G ENST00000162391.3 + 2 1341 c.196A>G c.(196-198)Aag>Gag p.K66E FOXJ2_ENST00000428177.2_Missense_Mutation_p.K66E NM_018416.2 NP_060886.1 Q9P0K8 FOXJ2_HUMAN forkhead box J2 66 embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development nucleolus|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 16 Kidney(36;0.0944) CCAGGACGGCAAGCCACGATA 0.572000 7 141 0 0 1 0 0 TIAM2 26230 broad.mit.edu 37 6 155569238 155569238 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:155569238C>T ENST00000461783.3 + 22 5030 c.3757C>T c.(3757-3759)Ctc>Ttc p.L1253F TIAM2_ENST00000456877.2_Missense_Mutation_p.L565F|TIAM2_ENST00000528391.2_Missense_Mutation_p.L589F|TIAM2_ENST00000318981.5_Missense_Mutation_p.L1253F|TIAM2_ENST00000275246.7_Missense_Mutation_p.L178F|TIAM2_ENST00000529824.2_Missense_Mutation_p.L1253F|TIAM2_ENST00000367174.2_Missense_Mutation_p.L629F|TIAM2_ENST00000360366.4_Missense_Mutation_p.L1277F|TIAM2_ENST00000456144.1_Missense_Mutation_p.L1253F Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 1253 DH. apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 65 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) TCAGAGAGTGCTCAAGTACCC 0.622000 OREG0017745 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 74 0 0 1 0 0 SNX2 6643 broad.mit.edu 37 5 122131076 122131076 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:122131076C>T ENST00000379516.2 + 2 332 c.224C>T c.(223-225)gCa>gTa p.A75V SNX2_ENST00000514949.1_5'UTR NM_003100.2 NP_003091.2 O60749 SNX2_HUMAN sorting nexin 2 75 cell communication|endocytosis|intracellular protein transport early endosome membrane phosphatidylinositol binding|protein binding|protein transporter activity NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)|skin(1) 19 all_cancers(142;1.14e-44)|all_lung(232;1.03e-13)|Lung NSC(810;2.5e-13)|Breast(839;0.000812)|Myeloproliferative disorder(839;0.0122)|Prostate(80;0.0235)|all_hematologic(541;0.0592)|all_neural(839;0.243) KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137) all cancers(49;2.13e-24)|Epithelial(69;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(64;5.6e-11)|BRCA - Breast invasive adenocarcinoma(61;0.00013)|GBM - Glioblastoma multiforme(465;0.000357)|COAD - Colon adenocarcinoma(49;0.000887)|Lung(113;0.0109) GATCTTTTTGCAGGTAATTGT 0.323000 17 55 0 0 1 0 0 PDE2A 5138 broad.mit.edu 37 11 72307674 72307674 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:72307674G>A ENST00000334456.5 - 6 697 c.452C>T c.(451-453)gCg>gTg p.A151V PDE2A_ENST00000540380.1_5'UTR|PDE2A_ENST00000444035.2_Missense_Mutation_p.A142V|PDE2A_ENST00000418754.2_Intron|PDE2A_ENST00000376450.3_Intron|PDE2A_ENST00000540345.1_Missense_Mutation_p.A142V|PDE2A_ENST00000544570.1_Missense_Mutation_p.A144V NM_002599.4 NP_002590.1 O00408 PDE2A_HUMAN phosphodiesterase 2A, cGMP-stimulated 151 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 36 BRCA - Breast invasive adenocarcinoma(5;3.55e-05) Sildenafil(DB00203)|Sulindac(DB00605) CTCCTTGTCCGCTAGCGGCAT 0.652000 18 49 0 0 1 0 0 HSDL1 83693 broad.mit.edu 37 16 84163962 84163962 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:84163962G>A ENST00000219439.4 - 4 471 c.295C>T c.(295-297)Cgg>Tgg p.R99W HSDL1_ENST00000434463.3_Missense_Mutation_p.R99W NM_001146051.1|NM_031463.4 NP_001139523.1|NP_113651.4 Q3SXM5 HSDL1_HUMAN hydroxysteroid dehydrogenase like 1 99 mitochondrion oxidoreductase activity|protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 7 TCCTCGTTCCGACTAATCAGG 0.463000 11 181 0 0 1 0 0 ANKRD33 341405 broad.mit.edu 37 12 52284371 52284371 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:52284371C>T ENST00000301190.6 + 5 868 c.641C>T c.(640-642)gCt>gTt p.A214V ANKRD33_ENST00000340970.4_Missense_Mutation_p.A89V|ANKRD33_ENST00000538991.1_Missense_Mutation_p.A20V|ANKRD33_ENST00000547119.1_3'UTR NM_001130015.1|NM_182608.3 NP_001123487.1|NP_872414.3 Q7Z3H0 ANR33_HUMAN ankyrin repeat domain 33 89 endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 22 BRCA - Breast invasive adenocarcinoma(357;0.0969) TTCCCAGGTGCTGACCTGACA 0.587000 10 26 0 0 1 0 0 SLC26A3 1811 broad.mit.edu 37 7 107432362 107432362 + Missense_Mutation SNP C C T rs150004100 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:107432362C>T ENST00000340010.5 - 4 479 c.295G>A c.(295-297)Gac>Aac p.D99N SLC26A3_ENST00000422236.2_Missense_Mutation_p.D64N NM_000111.2 NP_000102.1 P40879 S26A3_HUMAN solute carrier family 26 (anion exchanger), member 3 99 excretion integral to membrane|membrane fraction inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 GGGGGAATGTCGACCAGCAGA 0.448000 17 56 0 0 1 0 0 CKS2 1164 broad.mit.edu 37 9 91930190 91930190 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:91930190T>C ENST00000314355.6 + 2 260 c.165T>C c.(163-165)gtT>gtC p.V55V NM_001827.1 NP_001818.1 P33552 CKS2_HUMAN CDC28 protein kinase regulatory subunit 2 55 cell division|cell proliferation|phosphatidylinositol-mediated signaling|regulation of cyclin-dependent protein kinase activity|spindle organization cyclin-dependent protein kinase regulator activity kidney(1)|large_intestine(1) 2 TAGGCTGGGTTCATTACATGA 0.373000 36 88 0 0 1 0 0 KCNQ2 3785 broad.mit.edu 37 20 62076603 62076603 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:62076603A>G ENST00000354587.3 - 3 678 c.502T>C c.(502-504)Ttc>Ctc p.F168L KCNQ2_ENST00000357249.2_Missense_Mutation_p.F168L|KCNQ2_ENST00000344425.5_Missense_Mutation_p.F168L|KCNQ2_ENST00000370222.3_Missense_Mutation_p.F168L|KCNQ2_ENST00000370221.1_Missense_Mutation_p.F168L|KCNQ2_ENST00000359125.2_Missense_Mutation_p.F168L|KCNQ2_ENST00000370226.1_Missense_Mutation_p.F168L|KCNQ2_ENST00000360480.3_Missense_Mutation_p.F168L|KCNQ2_ENST00000359689.1_Missense_Mutation_p.F168L|KCNQ2_ENST00000344462.3_Missense_Mutation_p.F168L|KCNQ2_ENST00000430658.1_Missense_Mutation_p.F168L|KCNQ2_ENST00000370224.1_Missense_Mutation_p.F168L O43526 KCNQ2_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 2 168 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 all_cancers(38;1.24e-11) BRCA - Breast invasive adenocarcinoma(10;1.04e-05) Amitriptyline(DB00321) ATCACACAGAACGGTTTCCGG 0.657000 22 67 0 0 1 0 0 AC096579.13 0 broad.mit.edu 37 2 89157073 89157073 + RNA SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:89157073T>C ENST00000452230.1 - 0 39 IGKC_ENST00000390237.2_RNA|AC096579.7_ENST00000430694.1_RNA GTTATCCACCTTCCACTGTAC 0.537000 17 45 0 0 1 0 0 KCMF1 56888 broad.mit.edu 37 2 85280508 85280508 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:85280508T>C ENST00000409785.3 + 7 1481 c.1122T>C c.(1120-1122)aaT>aaC p.N374N NM_020122.4 NP_064507.3 Q9P0J7 KCMF1_HUMAN potassium channel modulatory factor 1 374 intracellular ligase activity|zinc ion binding ovary(3) 3 ATAAAGGAAATGAGCCTCCAC 0.418000 10 25 0 0 1 0 0 GTPBP1 9567 broad.mit.edu 37 22 39123307 39123307 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr22:39123307C>T ENST00000216044.5 + 9 1724 c.1491C>T c.(1489-1491)ctC>ctT p.L497L NM_004286.4 NP_004277.2 O00178 GTPB1_HUMAN GTP binding protein 1 497 immune response|positive regulation of mRNA catabolic process|signal transduction cytoplasmic exosome (RNase complex)|cytosol GTP binding|GTPase activity endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 18 Melanoma(58;0.04) CCGAGATTCTCGTCCTCCACC 0.597000 4 115 0 0 1 0 0 TAS2R14 50840 broad.mit.edu 37 12 11091487 11091487 + Missense_Mutation SNP T T A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:11091487T>A ENST00000537503.1 - 1 375 c.320A>T c.(319-321)tAt>tTt p.Y107F PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron NM_023922.1 NP_076411.1 Q9NYV8 T2R14_HUMAN taste receptor, type 2, member 14 107 detection of chemical stimulus involved in sensory perception of bitter taste bitter taste receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1) 8 CTTGAGAAAATAAAAAGTACC 0.373000 17 57 0 0 1 0 0 HSPA13 6782 broad.mit.edu 37 21 15750672 15750672 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr21:15750672G>A ENST00000285667.3 - 3 495 c.428C>T c.(427-429)tCc>tTc p.S143F HSPA13_ENST00000544452.1_Intron|HSPA13_ENST00000478035.1_5'UTR NM_006948.4 NP_008879.3 P48723 HSP13_HUMAN heat shock protein 70kDa family, member 13 143 endoplasmic reticulum|microsome ATP binding NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 13 ATATTCTGGGGACACTGTGAT 0.373000 4 44 0 0 1 0 0 DBF4 10926 broad.mit.edu 37 7 87507395 87507395 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:87507395A>G ENST00000265728.1 + 2 578 c.74A>G c.(73-75)aAc>aGc p.N25S NM_006716.3 NP_006707.1 Q9UBU7 DBF4A_HUMAN DBF4 homolog (S. cerevisiae) 25 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle nucleoplasm enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3) 28 Esophageal squamous(14;0.00202) Breast(660;0.0334) AATGAAAAAAACAGACCATCT 0.308000 47 162 0 0 1 0 0 WDR33 55339 broad.mit.edu 37 2 128482686 128482686 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:128482686T>C ENST00000322313.4 - 9 1113 c.955A>G c.(955-957)Aac>Gac p.N319D NM_018383.4 NP_060853.3 Q9C0J8 WDR33_HUMAN WD repeat domain 33 319 postreplication repair|spermatogenesis collagen|nucleus protein binding NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0695) TCTTTTAGGTTTCTGATATCA 0.398000 20 41 0 0 1 0 0 RRAGC 64121 broad.mit.edu 37 1 39322675 39322675 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:39322675T>C ENST00000373001.3 - 2 493 c.317A>G c.(316-318)aAt>aGt p.N106S NM_022157.2 NP_071440.1 Q9HB90 RRAGC_HUMAN Ras-related GTP binding C 106 apoptosis|cell growth|cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|RNA splicing|small GTPase mediated signal transduction|transcription, DNA-dependent lysosome|nucleus GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein heterodimerization activity endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1) 10 Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) AAAGGAGCTATTGGAAATGTC 0.403000 5 162 0 0 1 0 0 IER5L 389792 broad.mit.edu 37 9 131939288 131939288 + Silent SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:131939288C>A ENST00000372491.2 - 1 1252 c.1044G>T c.(1042-1044)ccG>ccT p.P348P RP11-247A12.2_ENST00000372490.3_RNA|RP11-247A12.8_ENST00000599172.2_RNA NM_203434.2 NP_982258.2 Q5T953 IER5L_HUMAN immediate early response 5-like 348 Ovarian(14;0.0448)|Medulloblastoma(224;0.235) UCEC - Uterine corpus endometrioid carcinoma (4;0.0178) TGGACGCGTCCGGGGACGAGT 0.716000 6 21 0.00116845 0.00118101 1 1 0 PALM2-AKAP2 445815 broad.mit.edu 37 9 112900744 112900744 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:112900744T>C ENST00000374530.3 + 8 3100 c.2920T>C c.(2920-2922)Ttg>Ctg p.L974L AKAP2_ENST00000510514.5_Silent_p.L974L|PALM2-AKAP2_ENST00000302798.7_Silent_p.L974L|AKAP2_ENST00000555236.1_Silent_p.L974L|AKAP2_ENST00000259318.7_Silent_p.L743L|AKAP2_ENST00000482335.1_3'UTR|AKAP2_ENST00000374525.1_Silent_p.L832L|AKAP2_ENST00000434623.2_Silent_p.L832L NM_007203.4|NM_147150.2 NP_009134.1|NP_671492.1 Q9Y2D5 AKAP2_HUMAN 743 enzyme binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 44 GAGACAAGTCTTGCAGAGTAC 0.532000 4 74 0 0 1 0 0 SMARCA4 6597 broad.mit.edu 37 19 11132435 11132435 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:11132435A>G ENST00000358026.2 + 19 2935 c.2651A>G c.(2650-2652)cAc>cGc p.H884R SMARCA4_ENST00000541122.2_Missense_Mutation_p.H884R|SMARCA4_ENST00000344626.4_Missense_Mutation_p.H884R|SMARCA4_ENST00000450717.3_Missense_Mutation_p.H884R|SMARCA4_ENST00000590574.1_Missense_Mutation_p.H884R|SMARCA4_ENST00000589677.1_Missense_Mutation_p.H884R|SMARCA4_ENST00000444061.3_Missense_Mutation_p.H884R|SMARCA4_ENST00000413806.3_Missense_Mutation_p.H884R|SMARCA4_ENST00000429416.3_Missense_Mutation_p.H884R NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 884 Helicase ATP-binding. chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.H884P(1)|p.?(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) GACGAAGGTCACCGCATGAAG 0.622000 """F, N, Mis""" NSCLC 8 33 0 0 1 0 0 LSG1 55341 broad.mit.edu 37 3 194380832 194380832 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:194380832T>C ENST00000265245.5 - 6 866 c.552A>G c.(550-552)cgA>cgG p.R184R NM_018385.2 NP_060855.2 Q9H089 LSG1_HUMAN large 60S subunit nuclear export GTPase 1 184 nuclear export|protein transport Cajal body|endoplasmic reticulum GTP binding|hydrolase activity breast(2)|endometrium(3)|large_intestine(2)|lung(9) 16 all_cancers(143;1.68e-08)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;7.55e-06) GGAGTGGGTTTCGAGCATCTA 0.418000 4 86 0 0 1 0 0 SPEG 10290 broad.mit.edu 37 2 220348596 220348596 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:220348596G>A ENST00000312358.7 + 30 6543 c.6411G>A c.(6409-6411)gaG>gaA p.E2137E AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 2137 muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) GTGAGGCGGAgccccggggcc 0.721000 13 23 0 0 1 0 0 USF1 7391 broad.mit.edu 37 1 161011565 161011565 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:161011565A>G ENST00000368021.3 - 6 552 c.348T>C c.(346-348)taT>taC p.Y116Y USF1_ENST00000435396.1_Silent_p.Y57Y|USF1_ENST00000368020.1_Silent_p.Y116Y|USF1_ENST00000368019.1_Silent_p.Y116Y NM_007122.3 NP_009053.1 P22415 USF1_HUMAN upstream transcription factor 1 116 cellular response to insulin stimulus|glucose homeostasis|late viral mRNA transcription|lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter by glucose|response to hypoxia|response to UV transcription factor complex bHLH transcription factor binding|histone deacetylase binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity central_nervous_system(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 9 all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00122) GGAAGTAAGTATAGTGCGTCT 0.577000 OREG0013936 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 24 105 0 0 1 0 0 SLC30A10 55532 broad.mit.edu 37 1 220088800 220088800 + Silent SNP C C T rs148203711 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:220088800C>T ENST00000366926.3 - 4 1610 c.1449G>A c.(1447-1449)acG>acA p.T483T SLC30A10_ENST00000536446.1_Silent_p.T238T|SLC30A10_ENST00000484079.1_5'UTR NM_018713.2 NP_061183.2 Q6XR72 ZNT10_HUMAN solute carrier family 30, member 10 483 zinc ion transport integral to membrane|plasma membrane cation transmembrane transporter activity NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1) 13 GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209) ATTAAAAATGCGTTCTGTTGA 0.438000 59 218 0 0 1 0 0 MRGPRX1 259249 broad.mit.edu 37 11 18955510 18955510 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:18955510G>A ENST00000302797.3 - 1 1046 c.822C>T c.(820-822)ttC>ttT p.F274F NM_147199.3 NP_671732.3 Q96LB2 MRGX1_HUMAN MAS-related GPR, member X1 274 acute-phase response integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 AGGAGCCCACGAAGAAGTAAA 0.512000 26 57 0 0 1 0 0 SPHKAP 80309 broad.mit.edu 37 2 228882035 228882035 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:228882035T>C ENST00000392056.3 - 7 3581 c.3535A>G c.(3535-3537)Agc>Ggc p.S1179G SPHKAP_ENST00000344657.5_Missense_Mutation_p.S1179G NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 1179 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) GAGGGACAGCTAGGCCTCACA 0.532000 14 95 0 0 1 0 0 PRUNE2 158471 broad.mit.edu 37 9 79323182 79323182 + Missense_Mutation SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:79323182C>A ENST00000428286.1 - 8 4131 c.2931G>T c.(2929-2931)agG>agT p.R977S PRUNE2_ENST00000376718.3_Missense_Mutation_p.R1336S Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 1336 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 CAAGGTGCCCCCTGTCAGTGG 0.527000 17 66 1.99824e-07 2.05285e-07 1 1 0 RNASE4 6038 broad.mit.edu 37 14 21167683 21167683 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:21167683C>T ENST00000555835.1 + 2 829 c.153C>T c.(151-153)cgC>cgT p.R51R RNASE4_ENST00000555597.1_Silent_p.R51R|RNASE4_ENST00000304704.4_Silent_p.R51R|RP11-903H12.3_ENST00000554286.1_lincRNA|RNASE4_ENST00000397995.2_Silent_p.R51R|AL163636.6_ENST00000553909.1_RNA NM_002937.3 NP_002928.1 P34096 RNAS4_HUMAN ribonuclease, RNase A family, 4 51 mRNA cleavage extracellular region nucleic acid binding|pancreatic ribonuclease activity central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1) 6 all_cancers(95;0.00304) Epithelial(56;5.13e-07)|all cancers(55;4.73e-06) GBM - Glioblastoma multiforme(265;0.0133) GCAGTGATCGCTACTGCAACT 0.527000 41 102 0 0 1 0 0 SGTA 6449 broad.mit.edu 37 19 2763675 2763675 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:2763675T>C ENST00000221566.2 - 6 634 c.473A>G c.(472-474)tAc>tGc p.Y158C NM_003021.3 NP_003012.1 O43765 SGTA_HUMAN small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha 158 interspecies interaction between organisms cytoplasm protein binding endometrium(2)|large_intestine(2)|lung(2)|ovary(1) 7 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) GGCCTTGCTGTAGGCCGGGTC 0.642000 11 23 0 0 1 0 0 SIRT4 23409 broad.mit.edu 37 12 120750395 120750395 + Missense_Mutation SNP G G C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:120750395G>C ENST00000202967.4 + 3 693 c.634G>C c.(634-636)Gtc>Ctc p.V212L SIRT4_ENST00000537892.1_3'UTR NM_012240.2 NP_036372.1 Q9Y6E7 SIRT4_HUMAN sirtuin 4 212 Deacetylase sirtuin-type. chromatin silencing|negative regulation of insulin secretion|protein ADP-ribosylation|protein deacetylation mitochondrial matrix hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3) 9 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) AGAGGAGCAAGTCCGGAGCTT 0.557000 5 98 0 0 1 0 0 NOMO1 23420 broad.mit.edu 37 16 14968915 14968915 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:14968915G>A ENST00000287667.7 + 19 2248 c.2077G>A c.(2077-2079)Gcc>Acc p.A693T NM_014287.3 NP_055102.3 Q15155 NOMO1_HUMAN NODAL modulator 1 693 integral to membrane carbohydrate binding|carboxypeptidase activity|protein binding endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2) 30 CAGTGAACCCGCCTTGGTCTT 0.557000 45 90 0 0 1 0 0 PRAMEF4 400735 broad.mit.edu 37 1 12939549 12939549 + Missense_Mutation SNP G G A rs139720767 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:12939549G>A ENST00000235349.5 - 4 1323 c.1253C>T c.(1252-1254)cCc>cTc p.P418L NM_001009611.2 NP_001009611.1 O60810 PRAM4_HUMAN PRAME family member 4 418 breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1) 24 Ovarian(185;0.249) Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) ACTCTCCCGGGGGGCAGGATA 0.517000 15 873 0 0 1 0 0 PPFIBP1 8496 broad.mit.edu 37 12 27845798 27845798 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:27845798G>A ENST00000318304.8 + 29 3302 c.3019G>A c.(3019-3021)Gaa>Aaa p.E1007K PPFIBP1_ENST00000542629.1_Missense_Mutation_p.E976K|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.E1001K|PPFIBP1_ENST00000537927.1_Missense_Mutation_p.E854K NM_001198916.1|NM_177444.2 NP_001185845.1|NP_803193.2 Q86W92 LIPB1_HUMAN PTPRF interacting protein, binding protein 1 (liprin beta 1) 1007 cell adhesion plasma membrane protein binding PPFIBP1/ALK(3) central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1) 32 Lung SC(9;0.0873) CATTACAGATGAAGACTCAAA 0.428000 16 67 0 0 1 0 0 NUDCD1 84955 broad.mit.edu 37 8 110305700 110305700 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:110305700T>C ENST00000239690.4 - 4 887 c.513A>G c.(511-513)tcA>tcG p.S171S NUDCD1_ENST00000427660.2_Silent_p.S142S NM_032869.3 NP_116258.2 Q96RS6 NUDC1_HUMAN NudC domain containing 1 171 breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1) 25 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;1.56e-12) CATTTAGCAGTGAGATACTGT 0.323000 24 105 0 0 1 0 0 KIAA1199 57214 broad.mit.edu 37 15 81229133 81229133 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:81229133A>G ENST00000394685.3 + 24 3547 c.3128A>G c.(3127-3129)tAc>tGc p.Y1043C RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000220244.3_Missense_Mutation_p.Y1043C|KIAA1199_ENST00000356249.5_Missense_Mutation_p.Y1043C Q8WUJ3 K1199_HUMAN KIAA1199 1043 breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 TACCAGCAATACCAACCGGTT 0.562000 46 101 0 0 1 0 0 NLRP12 91662 broad.mit.edu 37 19 54310864 54310864 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:54310864A>G ENST00000324134.6 - 4 2296 c.2128T>C c.(2128-2130)Tgc>Cgc p.C710R NLRP12_ENST00000354278.3_Missense_Mutation_p.C710R|NLRP12_ENST00000351894.4_Missense_Mutation_p.C710R|NLRP12_ENST00000345770.5_Missense_Mutation_p.C711R|NLRP12_ENST00000391772.1_Missense_Mutation_p.C711R|NLRP12_ENST00000391773.1_Missense_Mutation_p.C711R|NLRP12_ENST00000535162.1_Missense_Mutation_p.C710R|NLRP12_ENST00000391775.3_Missense_Mutation_p.C710R NM_001277126.1|NM_144687.2 NP_001264055.1|NP_653288.1 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 710 negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 80 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) GGATTGGTGCACAGGGCCGCT 0.567000 25 71 0 0 1 0 0 NCOA2 10499 broad.mit.edu 37 8 71060681 71060681 + Missense_Mutation SNP T T A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:71060681T>A ENST00000452400.2 - 12 2613 c.2432A>T c.(2431-2433)gAt>gTt p.D811V NM_006540.2 NP_006531.1 Q15596 NCOA2_HUMAN nuclear receptor coactivator 2 811 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity p.D811V(1) PAX3/NCOA2(4)|HEY1/NCOA2(10) NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4) 60 Breast(64;0.201) Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606) CTGCAAATCATCCAAAATCTC 0.478000 T """RUNXBP2, HEY1""" """AML, Chondrosarcoma""" OREG0018819 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 88 0 0 1 0 0 MIDN 90007 broad.mit.edu 37 19 1254932 1254932 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:1254932G>A ENST00000300952.2 + 6 1243 c.728G>A c.(727-729)aGt>aAt p.S243N MIDN_ENST00000591446.2_Missense_Mutation_p.S243N NM_177401.4 NP_796375.3 Q504T8 MIDN_HUMAN midnolin 243 nucleolus NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 13 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) GCCAGCAGCAGTGCCAGTCCT 0.667000 36 133 0 0 1 0 0 RBBP6 5930 broad.mit.edu 37 16 24580555 24580555 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:24580555A>G ENST00000319715.4 + 17 2976 c.2544A>G c.(2542-2544)ggA>ggG p.G848G RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Silent_p.G814G NM_006910.4 NP_008841.2 Q7Z6E9 RBBP6_HUMAN retinoblastoma binding protein 6 848 protein ubiquitination involved in ubiquitin-dependent protein catabolic process chromosome|nucleolus|ubiquitin ligase complex nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1) 46 GBM - Glioblastoma multiforme(48;0.0518) ATGCTGCTGGAGCACAGCCTA 0.418000 15 67 0 0 1 0 0 DHX32 55760 broad.mit.edu 37 10 127529492 127529492 + Missense_Mutation SNP A A C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:127529492A>C ENST00000284690.3 - 8 2107 c.1617T>G c.(1615-1617)caT>caG p.H539Q BCCIP_ENST00000368759.5_Intron|BCCIP_ENST00000299130.3_Intron|DHX32_ENST00000368721.1_Missense_Mutation_p.H163Q|DHX32_ENST00000284688.6_Missense_Mutation_p.H458Q|BCCIP_ENST00000429863.2_Intron NM_018180.2 NP_060650.2 Q7L7V1 DHX32_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 32 539 mitochondrion|nucleus ATP binding|helicase activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1) 29 all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936) CTCCTTCGGGATGTAAAAATG 0.423000 4 145 0 0 1 0 0 EDAR 10913 broad.mit.edu 37 2 109526938 109526938 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:109526938T>C ENST00000409271.1 - 9 1320 c.877A>G c.(877-879)Act>Gct p.T293A EDAR_ENST00000376651.1_Missense_Mutation_p.T293A|EDAR_ENST00000258443.2_Missense_Mutation_p.T261A Q9UNE0 EDAR_HUMAN ectodysplasin A receptor 261 apoptosis|cell differentiation integral to membrane protein binding|transmembrane receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 16 TTTGCTGGAGTTGCTGTCAGC 0.557000 7 33 0 0 1 0 0 COL5A3 50509 broad.mit.edu 37 19 10079145 10079145 + Silent SNP G G A rs141650534 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:10079145G>A ENST00000264828.3 - 59 4315 c.4230C>T c.(4228-4230)ctC>ctT p.L1410L NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 1410 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent p.L1410L(1) NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) GGGGGCCAATGAGACCGATCA 0.592000 66 158 0 0 1 0 0 GRM4 2914 broad.mit.edu 37 6 34004192 34004192 + Silent SNP C C G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:34004192C>G ENST00000374181.3 - 8 1864 c.1695G>C c.(1693-1695)cgG>cgC p.R565R GRM4_ENST00000535756.1_Silent_p.R432R|GRM4_ENST00000545715.1_Silent_p.R257R|GRM4_ENST00000455714.2_Silent_p.R425R|GRM4_ENST00000538487.1_Silent_p.R565R|GRM4_ENST00000544773.1_Silent_p.R396R|GRM4_ENST00000374177.3_Silent_p.R449R NM_001256810.1 NP_001243739.1 Q14833 GRM4_HUMAN glutamate receptor, metabotropic 4 565 activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade cytoplasmic vesicle|integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 L-Glutamic Acid(DB00142) TCTCTGTGGGCCGCATGTCAT 0.647000 19 39 0 0 1 0 0 MBD3 53615 broad.mit.edu 37 19 1581142 1581142 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:1581142T>C ENST00000590550.2 - 4 831 c.458A>G c.(457-459)aAc>aGc p.N153S MBD3_ENST00000592012.1_Missense_Mutation_p.N177S|MBD3_ENST00000434436.3_Missense_Mutation_p.N209S|MBD3_ENST00000156825.1_Missense_Mutation_p.N209S O95983 MBD3_HUMAN methyl-CpG binding domain protein 3 209 transcription, DNA-dependent NuRD complex DNA binding|protein binding central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 8 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18) CTGCGTGGTGTTGAGCCATAC 0.652000 5 68 0 0 1 0 0 ADAMTS19 171019 broad.mit.edu 37 5 128862006 128862006 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:128862006G>A ENST00000274487.4 + 4 1070 c.925G>A c.(925-927)Gca>Aca p.A309T CTC-575N7.1_ENST00000503616.1_RNA NM_133638.3 NP_598377.3 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 19 309 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6) 91 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) TAGAAAAATAGCAGAAAGTGG 0.348000 13 46 0 0 1 0 0 SIX6 4990 broad.mit.edu 37 14 60976367 60976367 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:60976367A>G ENST00000327720.5 + 1 699 c.251A>G c.(250-252)cAc>cGc p.H84R NM_007374.2 NP_031400.2 O95475 SIX6_HUMAN SIX homeobox 6 84 organ morphogenesis|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2) 11 OV - Ovarian serous cystadenocarcinoma(108;0.088) AAGGAGTCGCACGCCAAGCTG 0.582000 5 55 0 0 1 0 0 TIAM1 7074 broad.mit.edu 37 21 32585738 32585738 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr21:32585738A>G ENST00000286827.3 - 11 2664 c.2193T>C c.(2191-2193)ttT>ttC p.F731F TIAM1_ENST00000469412.1_5'UTR|TIAM1_ENST00000541036.1_Intron NM_003253.2 NP_003244.2 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 731 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 CAATGTCATCAAATATTCCCT 0.388000 13 72 0 0 1 0 0 TMEM38A 79041 broad.mit.edu 37 19 16791318 16791318 + Missense_Mutation SNP C C T rs139650677 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:16791318C>T ENST00000187762.2 + 3 483 c.392C>T c.(391-393)gCg>gTg p.A131V NM_024074.1 NP_076979.1 Q9H6F2 TM38A_HUMAN transmembrane protein 38A 131 integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane potassium channel activity p.A131V(1) central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1) 15 CGCAAGATCGCGGTGGGCATC 0.527000 81 218 0 0 1 0 0 RBM44 375316 broad.mit.edu 37 2 238727040 238727040 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:238727040C>T ENST00000316997.4 + 3 1613 c.1481C>T c.(1480-1482)aCa>aTa p.T494I RBM44_ENST00000409864.1_Missense_Mutation_p.T494I|RBM44_ENST00000444524.2_Intron NM_001080504.2 NP_001073973.2 Q6ZP01 RBM44_HUMAN RNA binding motif protein 44 493 nucleotide binding|RNA binding breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266) GTAGTATCTACATCAAGCAAC 0.393000 14 61 0 0 1 0 0 CCDC93 54520 broad.mit.edu 37 2 118698847 118698847 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:118698847A>G ENST00000376300.2 - 19 1577 c.1440T>C c.(1438-1440)atT>atC p.I480I CCDC93_ENST00000319432.5_Silent_p.I479I NM_019044.4 NP_061917.3 Q567U6 CCD93_HUMAN coiled-coil domain containing 93 480 breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2) 29 TGCGGTGCAAAATTGCTATTT 0.428000 16 70 0 0 1 0 0 CLUH 23277 broad.mit.edu 37 17 2605231 2605231 + Missense_Mutation SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:2605231A>T ENST00000570628.1 - 4 587 c.482T>A c.(481-483)gTc>gAc p.V161D CLUH_ENST00000435359.1_Missense_Mutation_p.V161D|CLUH_ENST00000538975.1_Missense_Mutation_p.V161D|CLUH_ENST00000575014.1_Missense_Mutation_p.V93D clustered mitochondria (cluA/CLU1) homolog GTCGGTGAAGACACTCAGGAA 0.672000 18 59 0 0 1 0 0 LMNB2 84823 broad.mit.edu 37 19 2438423 2438423 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:2438423T>C ENST00000325327.3 - 3 570 c.508A>G c.(508-510)Aag>Gag p.K170E LMNB2_ENST00000582871.1_Missense_Mutation_p.K150E Q03252 LMNB2_HUMAN lamin B2 150 Coil 1B.|Rod. nuclear inner membrane structural molecule activity NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 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) AGGCCGCGCTTGTCGCTGAGG 0.672000 16 27 0 0 1 0 0 GPCPD1 56261 broad.mit.edu 37 20 5528364 5528364 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:5528364A>G ENST00000379019.4 - 20 2174 c.1962T>C c.(1960-1962)tgT>tgC p.C654C GPCPD1_ENST00000481038.1_5'UTR NM_019593.3 NP_062539.1 Q9NPB8 GPCP1_HUMAN glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae) 654 glycerol metabolic process|lipid metabolic process carbohydrate binding|glycerophosphodiester phosphodiesterase activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1) 16 CAGACTCCCCACACAAAGATG 0.483000 58 144 0 0 1 0 0 RTN4 57142 broad.mit.edu 37 2 55254564 55254564 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:55254564A>G ENST00000337526.6 - 3 914 c.671T>C c.(670-672)tTc>tCc p.F224S RTN4_ENST00000317610.7_Intron|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000404909.1_Missense_Mutation_p.F18S|RTN4_ENST00000405240.1_Missense_Mutation_p.F18S|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000394611.2_Missense_Mutation_p.F18S|RTN4_ENST00000357376.3_Missense_Mutation_p.F18S|RTN4_ENST00000354474.6_Intron NM_020532.4 NP_065393.1 Q9NQC3 RTN4_HUMAN reticulon 4 224 apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1) 36 GACAGATGGGAAATCCTCTTG 0.443000 16 59 0 0 1 0 0 SYN3 8224 broad.mit.edu 37 22 32914204 32914204 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr22:32914204T>C ENST00000358763.2 - 13 1678 c.1436A>G c.(1435-1437)cAa>cGa p.Q479R SYN3_ENST00000467095.1_5'UTR|SYN3_ENST00000332840.5_Missense_Mutation_p.Q479R NM_001135774.1 NP_001129246.1 O14994 SYN3_HUMAN synapsin III 479 J; Pro-rich linker. neurotransmitter secretion cell junction|synaptic vesicle membrane ATP binding|ligase activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 TGGTGACCTTTGCTGCTGTGG 0.672000 51 141 0 0 1 0 0 CYP19A1 1588 broad.mit.edu 37 15 51503019 51503019 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:51503019A>G ENST00000396402.1 - 10 1651 c.1498T>C c.(1498-1500)Tgt>Cgt p.C500R CYP19A1_ENST00000396404.4_Missense_Mutation_p.C500R|CYP19A1_ENST00000559878.1_Missense_Mutation_p.C500R|CYP19A1_ENST00000260433.2_Missense_Mutation_p.C500R|RP11-108K3.1_ENST00000559909.1_lincRNA NM_000103.3 NP_000094.2 P11511 CP19A_HUMAN cytochrome P450, family 19, subfamily A, polypeptide 1 500 estrogen biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|membrane fraction aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 33 all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128) Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624) TGTTCCAGACACCTGTCTGAG 0.448000 35 160 0 0 1 0 0 BAG3 9531 broad.mit.edu 37 10 121436443 121436443 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:121436443C>T ENST00000369085.3 + 4 1683 c.1377C>T c.(1375-1377)acC>acT p.T459T NM_004281.3 NP_004272.2 O95817 BAG3_HUMAN BCL2-associated athanogene 3 459 BAG. anti-apoptosis|apoptosis|protein folding cytosol endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 20 Lung NSC(174;0.109)|all_lung(145;0.142) all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148) AGTATTTGACCAAAGAGCTGC 0.532000 18 67 0 0 1 0 0 WIPF1 7456 broad.mit.edu 37 2 175436854 175436854 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:175436854C>T ENST00000392547.2 - 5 778 c.679G>A c.(679-681)Ggc>Agc p.G227S AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000409891.1_Missense_Mutation_p.G227S|WIPF1_ENST00000272746.5_Missense_Mutation_p.G227S|WIPF1_ENST00000409415.3_Missense_Mutation_p.G227S|WIPF1_ENST00000359761.3_Missense_Mutation_p.G227S|WIPF1_ENST00000392546.2_Missense_Mutation_p.G227S|AC018890.6_ENST00000412835.1_RNA NM_003387.4 NP_003378.3 O43516 WIPF1_HUMAN WAS/WASL interacting protein family, member 1 227 actin polymerization or depolymerization|protein complex assembly cytoplasmic membrane-bounded vesicle actin binding|profilin binding NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1) 32 AAAGCAGTGCCGCGGTTTCCA 0.682000 20 55 0 0 1 0 0 LLGL2 3993 broad.mit.edu 37 17 73564757 73564757 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:73564757G>A ENST00000392550.3 + 11 1354 c.1237G>A c.(1237-1239)Gca>Aca p.A413T LLGL2_ENST00000577200.1_Missense_Mutation_p.A413T|LLGL2_ENST00000167462.5_Missense_Mutation_p.A413T NM_001031803.1 NP_001026973.1 Q6P1M3 L2GL2_HUMAN lethal giant larvae homolog 2 (Drosophila) 413 cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity cytoplasm|intracellular membrane-bounded organelle PDZ domain binding NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112) CCGGCAGAACGCACACTTCTC 0.612000 20 58 0 0 1 0 0 PSKH2 85481 broad.mit.edu 37 8 87076207 87076207 + Missense_Mutation SNP T T A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:87076207T>A ENST00000276616.2 - 2 913 c.839A>T c.(838-840)aAt>aTt p.N280I NM_033126.1 NP_149117.1 Q96QS6 KPSH2_HUMAN protein serine kinase H2 280 Protein kinase. ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1) 47 STAD - Stomach adenocarcinoma(118;0.129) TCCTGTATAATTATATTTGCC 0.388000 9 51 0 0 1 0 0 IZUMO1 284359 broad.mit.edu 37 19 49245563 49245563 + Missense_Mutation SNP C C T rs140133186 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:49245563C>T ENST00000332955.2 - 7 1050 c.503G>A c.(502-504)cGg>cAg p.R168Q NM_182575.2 NP_872381.2 Q8IYV9 IZUM1_HUMAN izumo sperm-egg fusion 1 168 Ig-like C2-type. fusion of sperm to egg plasma membrane integral to membrane endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 17 all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022) TTCCACATTCCGCTCTGGGGG 0.493000 26 75 0 0 1 0 0 FARP1 10160 broad.mit.edu 37 13 99047624 99047624 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr13:99047624T>C ENST00000376586.2 + 13 1644 c.1308T>C c.(1306-1308)ggT>ggC p.G436G FARP1_ENST00000319562.6_Silent_p.G436G|FARP1_ENST00000595437.1_Silent_p.G436G Q9Y4F1 FARP1_HUMAN FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) 436 regulation of Rho protein signal transduction cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1) 49 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) GCCCCGCGGGTAACAAGCAGG 0.692000 24 66 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103175892 103175892 + Missense_Mutation SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:103175892C>A ENST00000424685.2 - 46 7379 c.7220G>T c.(7219-7221)tGg>tTg p.W2407L RELN_ENST00000343529.5_Missense_Mutation_p.W2407L|RELN_ENST00000428762.1_Missense_Mutation_p.W2407L P78509 RELN_HUMAN reelin 2407 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CAATGGGTGCCATGACAATCC 0.428000 16 66 6.94344e-10 7.18556e-10 1 1 0 OR52N5 390075 broad.mit.edu 37 11 5799574 5799574 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:5799574A>G ENST00000317093.2 - 1 323 c.291T>C c.(289-291)agT>agC p.S97S TRIM5_ENST00000380027.1_Intron NM_001001922.2 NP_001001922.2 Q8NH56 O52N5_HUMAN olfactory receptor, family 52, subfamily N, member 5 97 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195) TTTCTTTGAGACTGAACCAGA 0.473000 17 82 0 0 1 0 0 USP17L2 377630 broad.mit.edu 37 8 11996053 11996053 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:11996053T>C ENST00000333796.3 - 1 533 c.217A>G c.(217-219)Agg>Ggg p.R73G FAM66D_ENST00000434078.2_RNA NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2 NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2 Q6R6M4 U17L2_HUMAN ubiquitin specific peptidase 17-like family member 2 73 apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus ubiquitin thiolesterase activity|ubiquitin-specific protease activity central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 29 GCAGGTCTCCTGCTACTCAGA 0.572000 13 78 0 0 1 0 0 PLEK2 26499 broad.mit.edu 37 14 67857432 67857432 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:67857432C>T ENST00000216446.4 - 7 943 c.803G>A c.(802-804)cGc>cAc p.R268H NM_016445.1 NP_057529.1 Q9NYT0 PLEK2_HUMAN pleckstrin 2 268 PH 2. actin cytoskeleton organization|intracellular signal transduction cytoplasm|cytoskeleton|lamellipodium membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 15 all cancers(60;0.000728)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.00953) TAGAACAAAGCGACGCACCTT 0.498000 25 136 0 0 1 0 0 MLLT4 4301 broad.mit.edu 37 6 168366483 168366483 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:168366483G>A ENST00000366806.2 + 32 5136 c.4994G>A c.(4993-4995)cGc>cAc p.R1665H MLLT4_ENST00000351017.4_Missense_Mutation_p.R1672H|MLLT4_ENST00000392112.1_Missense_Mutation_p.R1648H|MLLT4_ENST00000400822.3_Missense_Mutation_p.R1675H|MLLT4_ENST00000447894.2_Missense_Mutation_p.R1665H P55196 AFAD_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 1665 adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction adherens junction|cell-cell junction|cytosol|nucleus protein C-terminus binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(66;1.07e-05)|Ovarian(120;0.024) Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117) GCCGAGAGGCGCAGACAGCAC 0.677000 T MLL AL 4 6 0 0 1 0 0 BSN 8927 broad.mit.edu 37 3 49694495 49694495 + Missense_Mutation SNP G G C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:49694495G>C ENST00000296452.4 + 5 7620 c.7506G>C c.(7504-7506)tgG>tgC p.W2502C NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 2502 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) GCCAGTATTGGCCCCCCCTTA 0.647000 27 68 0 0 1 0 0 CORIN 10699 broad.mit.edu 37 4 47765562 47765562 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:47765562G>A ENST00000273857.4 - 4 450 c.451C>T c.(451-453)Ccc>Tcc p.P151S CORIN_ENST00000504584.1_Missense_Mutation_p.P151S|CORIN_ENST00000502252.1_Missense_Mutation_p.P84S|CORIN_ENST00000508498.1_Missense_Mutation_p.P12S|CORIN_ENST00000505909.1_Missense_Mutation_p.P151S NM_006587.2 NP_006578.2 Q9Y5Q5 CORIN_HUMAN corin, serine peptidase 151 FZ 1. peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 79 GCGTGGTAGGGCAGCATCTGA 0.458000 19 94 0 0 1 0 0 FMN2 56776 broad.mit.edu 37 1 240370980 240370980 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:240370980G>A ENST00000319653.9 + 5 3098 c.2868G>A c.(2866-2868)ccG>ccA p.P956P NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 956 FH1.|Pro-rich. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding p.P1099P(1) NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) TACCCCCTCCGCCCCCTCTTC 0.697000 9 66 0 0 1 0 0 GALNT7 51809 broad.mit.edu 37 4 174235233 174235233 + Missense_Mutation SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:174235233A>T ENST00000265000.4 + 9 1597 c.1514A>T c.(1513-1515)cAc>cTc p.H505L NM_017423.2 NP_059119.2 Q86SF2 GALT7_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7) 505 protein O-linked glycosylation Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9) 19 Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122) all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199) CGAGAAGATCACAACTGCAAA 0.403000 36 97 0 0 1 0 0 NADSYN1 55191 broad.mit.edu 37 11 71175157 71175157 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:71175157C>T ENST00000319023.2 + 5 564 c.376C>T c.(376-378)Ctg>Ttg p.L126L NM_018161.4 NP_060631.2 Q6IA69 NADE_HUMAN NAD synthetase 1 126 CN hydrolase. NAD biosynthetic process|water-soluble vitamin metabolic process cytosol ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 25 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) CTACCGCGAGCTGCGCTGGTT 0.617000 4 10 0 0 1 0 0 TRIM6-TRIM34 445372 broad.mit.edu 37 11 5655876 5655876 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:5655876G>A ENST00000354852.5 + 10 1770 c.1597G>A c.(1597-1599)Gag>Aag p.E533K TRIM34_ENST00000429814.2_Missense_Mutation_p.E179K|TRIM6-TRIM34_ENST00000457787.2_Missense_Mutation_p.E179K|HBG2_ENST00000380259.2_Intron|TRIM34_ENST00000514226.1_Missense_Mutation_p.E179K NM_001003819.3 NP_001003819.1 B2RNG4 B2RNG4_HUMAN 533 intracellular zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1) 33 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145) GGTACAAACTGAGAGACAAAG 0.413000 8 39 0 0 1 0 0 ADAM21P1 145241 broad.mit.edu 37 14 70713731 70713731 + RNA SNP A A C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:70713731A>C ENST00000530196.1 - 0 787 NR_003951.1 ATCATGGTTCACCACAACAAC 0.423000 29 92 0 0 1 0 0 ARNT 405 broad.mit.edu 37 1 150784504 150784504 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:150784504G>A ENST00000358595.5 - 22 2563 c.2363C>T c.(2362-2364)tCa>tTa p.S788L ARNT_ENST00000505755.1_Missense_Mutation_p.S773L|ARNT_ENST00000515192.1_Missense_Mutation_p.S774L|ARNT_ENST00000354396.2_Missense_Mutation_p.S786L NM_001197325.1|NM_001668.3|NM_178427.2 NP_001184254.1|NP_001659.1|NP_848514.1 P27540 ARNT_HUMAN aryl hydrocarbon receptor nuclear translocator 788 positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1) 34 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211) GTTCTATTCTGAAAAGGGGGG 0.383000 T ETV6 AML 23 42 0 0 1 0 0 FAM187B 148109 broad.mit.edu 37 19 35719090 35719090 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:35719090T>C ENST00000324675.3 - 1 542 c.494A>G c.(493-495)tAc>tGc p.Y165C NM_152481.1 NP_689694.1 Q17R55 F187B_HUMAN family with sequence similarity 187, member B 165 integral to membrane breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2) 9 AATGTAGCGGTACCCCAGGCG 0.612000 37 106 0 0 1 0 0 TLR7 51284 broad.mit.edu 37 X 12904439 12904439 + Missense_Mutation SNP C C T rs141848808 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chrX:12904439C>T ENST00000380659.3 + 3 951 c.812C>T c.(811-813)gCg>gTg p.A271V NM_016562.3 NP_057646.1 Q9NYK1 TLR7_HUMAN toll-like receptor 7 271 cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 44 Imiquimod(DB00724) TTTCCTTGTGCGCCGTGTAAA 0.378000 59 61 0 0 1 0 0 LRBA 987 broad.mit.edu 37 4 151520221 151520221 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:151520221A>G ENST00000535741.1 - 38 6457 c.5984T>C c.(5983-5985)tTt>tCt p.F1995S LRBA_ENST00000357115.3_Missense_Mutation_p.F1995S|LRBA_ENST00000510413.1_Missense_Mutation_p.F1995S|LRBA_ENST00000507224.1_Missense_Mutation_p.F1995S P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and anchor containing 1995 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 all_hematologic(180;0.151) GTTACGCACAAATCGTCGCCG 0.488000 34 92 0 0 1 0 0 NDUFS3 4722 broad.mit.edu 37 11 47603695 47603695 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:47603695A>G ENST00000263774.4 + 5 519 c.437A>G c.(436-438)tAc>tGc p.Y146C NDUFS3_ENST00000533507.1_3'UTR NM_004551.2 NP_004542.1 O75489 NDUS3_HUMAN NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase) 146 induction of apoptosis|mitochondrial electron transport, NADH to ubiquinone|negative regulation of cell growth|reactive oxygen species metabolic process|transport mitochondrial respiratory chain complex I electron carrier activity|NADH dehydrogenase (ubiquinone) activity|protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2) 9 NADH(DB00157) GTGAAGACCTACACAGATGAG 0.532000 55 138 0 0 1 0 0 XKR4 114786 broad.mit.edu 37 8 56015332 56015332 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:56015332C>T ENST00000327381.5 + 1 384 c.284C>T c.(283-285)gCg>gTg p.A95V NM_052898.1 NP_443130.1 Q5GH76 XKR4_HUMAN XK, Kell blood group complex subunit-related family, member 4 95 integral to membrane NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 34 Epithelial(17;0.000117)|all cancers(17;0.000836) gGCTCGGCTGCGCTGTGCCTG 0.781000 14 23 0 0 1 0 0 ZNF418 147686 broad.mit.edu 37 19 58439140 58439140 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:58439140A>G ENST00000396147.1 - 4 700 c.409T>C c.(409-411)Tat>Cat p.Y137H ZNF418_ENST00000425570.3_Missense_Mutation_p.Y158H|ZNF418_ENST00000599852.1_Missense_Mutation_p.Y52H|ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000595830.1_Missense_Mutation_p.Y137H NM_133460.1 NP_597717.1 Q8TF45 ZN418_HUMAN zinc finger protein 418 137 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 31 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158) CTGCTTCTATAGGGTTTCTCT 0.443000 20 211 0 0 1 0 0 THOC6 79228 broad.mit.edu 37 16 3077433 3077433 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:3077433G>A ENST00000326266.8 + 12 1173 c.877G>A c.(877-879)Gtg>Atg p.V293M THOC6_ENST00000574549.1_Missense_Mutation_p.V269M|THOC6_ENST00000253952.9_Intron|THOC6_ENST00000575576.1_Missense_Mutation_p.V269M NM_024339.3 NP_077315.2 Q86W42 THOC6_HUMAN THO complex 6 homolog (Drosophila) 293 intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing THO complex part of transcription export complex RNA binding central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1) 13 GAAGGCCCAGGTGCCTGGCTC 0.701000 14 47 0 0 1 0 0 ITPR1 3708 broad.mit.edu 37 3 4681107 4681107 + Missense_Mutation SNP A A C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:4681107A>C ENST00000302640.8 + 6 669 c.319A>C c.(319-321)Aac>Cac p.N107H ITPR1_ENST00000456211.2_Missense_Mutation_p.N107H|ITPR1_ENST00000423119.2_Missense_Mutation_p.N107H|ITPR1_ENST00000544951.1_Missense_Mutation_p.N107H|ITPR1_ENST00000443694.2_Missense_Mutation_p.N107H|ITPR1_ENST00000354582.6_Missense_Mutation_p.N107H|ITPR1_ENST00000357086.4_Missense_Mutation_p.N107H NM_001168272.1 NP_001161744.1 Q14643 ITPR1_HUMAN inositol 1,4,5-trisphosphate receptor, type 1 107 activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2) 106 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) TGAGACAGAAAACAGGAAATT 0.463000 7 11 0 0 1 0 0 ARHGEF10 9639 broad.mit.edu 37 8 1808161 1808161 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:1808161A>G ENST00000518288.1 + 5 527 c.364A>G c.(364-366)Acg>Gcg p.T122A ARHGEF10_ENST00000398564.1_Missense_Mutation_p.T122A|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.T122A|ARHGEF10_ENST00000520359.1_Missense_Mutation_p.T98A|ARHGEF10_ENST00000398560.1_Missense_Mutation_p.T122A|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.T98A O15013 ARHGA_HUMAN Rho guanine nucleotide exchange factor (GEF) 10 122 centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis centrosome|cytosol|soluble fraction kinesin binding|Rho guanyl-nucleotide exchange factor activity endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1) 35 Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834) COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718) CATCGACATCACGCCATTCCA 0.602000 11 163 0 0 1 0 0 CXADRP3 440224 broad.mit.edu 37 18 14478750 14478750 + RNA SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr18:14478750C>T ENST00000581457.1 - 0 1158 NR_024076.1 GCCACTCATACTGTAATGGAA 0.348000 6 14 0 0 1 0 0 STRN3 29966 broad.mit.edu 37 14 31381256 31381256 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:31381256T>C ENST00000355683.5 - 9 1470 c.1255A>G c.(1255-1257)Acc>Gcc p.T419A STRN3_ENST00000357479.5_Missense_Mutation_p.T503A NM_014574.3 NP_055389.3 Q13033 STRN3_HUMAN striatin, calmodulin binding protein 3 435 negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Hepatocellular(127;0.0877)|Breast(36;0.148) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805) GBM - Glioblastoma multiforme(265;0.0124) AGTTTCAGGGTATGGTCCTCA 0.398000 6 166 0 0 1 0 0 IDO2 169355 broad.mit.edu 37 8 39836655 39836655 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:39836655T>C ENST00000502986.2 + 4 546 c.304T>C c.(304-306)Ttc>Ctc p.F102L RP11-44K6.3_ENST00000517623.1_RNA|IDO2_ENST00000343295.4_3'UTR|IDO2_ENST00000389060.4_Missense_Mutation_p.F89L NM_194294.2 NP_919270.2 Q6ZQW0 I23O2_HUMAN indoleamine 2,3-dioxygenase 2 89 tryptophan catabolic process to kynurenine cytosol heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1) 18 GGTCCTGAGCTTCCTCACCAT 0.617000 7 19 0 0 1 0 0 ZBTB18 10472 broad.mit.edu 37 1 244218341 244218341 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:244218341C>T ENST00000358704.4 + 2 1414 c.1265C>T c.(1264-1266)tCg>tTg p.S422L NM_001278196.1|NM_006352.4|NM_205768.2 NP_001265125.1|NP_006343.2|NP_991331.1 zinc finger and BTB domain containing 18 CCCACGTGCTCGCTGTGTGGG 0.637000 36 67 0 0 1 0 0 ACAN 176 broad.mit.edu 37 15 89402512 89402512 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:89402512G>A ENST00000439576.2 + 12 7070 c.6696G>A c.(6694-6696)acG>acA p.T2232T ACAN_ENST00000352105.7_Silent_p.T2232T|ACAN_ENST00000559004.1_Silent_p.T2232T|ACAN_ENST00000561243.1_Silent_p.T2232T NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 2232 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) CTGCAGAGACGCATCTAGAAA 0.577000 18 24 0 0 1 0 0 ITGA9 3680 broad.mit.edu 37 3 37565066 37565066 + Missense_Mutation SNP T T G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:37565066T>G ENST00000264741.5 + 12 1547 c.1291T>G c.(1291-1293)Tcg>Gcg p.S431A ITGA9_ENST00000422441.1_Missense_Mutation_p.S431A NM_002207.2 NP_002198.2 Q13797 ITA9_HUMAN integrin, alpha 9 431 axon guidance|cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1) 44 KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197) TCAGTCCATATCGGGAGGCAT 0.398000 20 68 0 0 1 0 0 PLAC8L1 153770 broad.mit.edu 37 5 145464016 145464016 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:145464016C>T ENST00000311450.4 - 4 570 c.513G>A c.(511-513)atG>atA p.M171I NM_001029869.1 NP_001025040.1 A1L4L8 PL8L1_HUMAN PLAC8-like 1 171 autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|stomach(2) 10 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TGTCCTTAGTCATTGGGACTG 0.517000 19 159 0 0 1 0 0 ECT2 1894 broad.mit.edu 37 3 172482230 172482230 + Missense_Mutation SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:172482230C>A ENST00000417960.1 + 12 1612 c.1135C>A c.(1135-1137)Ctt>Att p.L379I ECT2_ENST00000232458.5_Missense_Mutation_p.L380I|ECT2_ENST00000540509.1_Missense_Mutation_p.L411I|ECT2_ENST00000441497.2_Missense_Mutation_p.L380I|ECT2_ENST00000427830.1_Missense_Mutation_p.L380I|ECT2_ENST00000392692.3_Missense_Mutation_p.L411I NM_001258316.1 NP_001245245.1 Q9H8V3 ECT2_HUMAN epithelial cell transforming sequence 2 oncogene 380 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity|signal transducer activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 Ovarian(172;0.00197)|Breast(254;0.158) Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14) TGAGCATTCCCTTTCCATAGG 0.433000 4 118 0.014758 0.0148535 1 1 0 CTSC 1075 broad.mit.edu 37 11 88033761 88033761 + Missense_Mutation SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:88033761G>T ENST00000227266.5 - 5 808 c.694C>A c.(694-696)Cca>Aca p.P232T NM_001814.4 NP_001805.3 P53634 CATC_HUMAN cathepsin C 232 immune response lysosome cysteine-type endopeptidase activity large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2) 22 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) CAAGATGTTGGCAAATGCAAA 0.343000 14 65 0.000219431 0.000222589 1 1 0 SIM1 6492 broad.mit.edu 37 6 100838718 100838718 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:100838718G>A ENST00000369208.3 - 12 2602 c.1820C>T c.(1819-1821)gCa>gTa p.A607V SIM1_ENST00000262901.4_Missense_Mutation_p.A607V P81133 SIM1_HUMAN single-minded family bHLH transcription factor 1 607 Single-minded C-terminal. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 79 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) TTGGTAGTTTGCAAAACACAG 0.478000 5 101 0 0 1 0 0 SLC4A11 83959 broad.mit.edu 37 20 3212165 3212165 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:3212165C>T ENST00000380059.3 - 8 989 c.888G>A c.(886-888)gcG>gcA p.A296A SLC4A11_ENST00000474451.1_5'UTR|SLC4A11_ENST00000380056.3_Silent_p.A269A|SLC4A11_ENST00000539553.1_Silent_p.A253A NM_001174090.1 NP_001167561.1 Q8NBS3 S4A11_HUMAN solute carrier family 4, sodium borate transporter, member 11 269 cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system basolateral plasma membrane|integral to membrane bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1) 40 CAAACGTGCGCGCCACCTCCA 0.602000 30 89 0 0 1 0 0 PPP2R5A 5525 broad.mit.edu 37 1 212530583 212530583 + Missense_Mutation SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:212530583A>T ENST00000261461.2 + 11 1757 c.1183A>T c.(1183-1185)Atg>Ttg p.M395L PPP2R5A_ENST00000537030.3_Missense_Mutation_p.M338L NM_006243.3 NP_006234.1 Q15172 2A5A_HUMAN protein phosphatase 2, regulatory subunit B', alpha 395 negative regulation of establishment of protein localization in plasma membrane|negative regulation of lipid kinase activity|positive regulation of protein dephosphorylation|signal transduction chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex kinase binding|protein phosphatase type 2A regulator activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1) 16 OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155) TCTGCCAATTATGTTTGCCAG 0.284000 8 25 0 0 1 0 0 SIN3B 23309 broad.mit.edu 37 19 16952724 16952724 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:16952724T>C ENST00000379803.1 + 4 541 c.527T>C c.(526-528)tTc>tCc p.F176S SIN3B_ENST00000248054.5_Missense_Mutation_p.F176S|SIN3B_ENST00000596802.1_Missense_Mutation_p.F176S NM_015260.2 NP_056075.1 O75182 SIN3B_HUMAN SIN3 transcription regulator family member B 176 PAH 2. cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm protein binding endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 26 AAAACCCGCTTCCTAGACCAC 0.478000 4 118 0 0 1 0 0 LTBP4 8425 broad.mit.edu 37 19 41135437 41135437 + Silent SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:41135437C>A ENST00000308370.7 + 34 4854 c.4854C>A c.(4852-4854)ccC>ccA p.P1618P LTBP4_ENST00000396819.3_Silent_p.P1551P|LTBP4_ENST00000204005.9_Silent_p.P1581P|LTBP4_ENST00000243562.9_3'UTR|LTBP4_ENST00000545697.1_3'UTR|LTBP4_ENST00000602240.1_3'UTR NM_001042544.1 NP_001036009.1 Q8N2S1 LTBP4_HUMAN latent transforming growth factor beta binding protein 4 1619 EGF-like 16. growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity central_nervous_system(1) 1 Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384) ACTGTGCGCCCGCACGGCCCC 0.736000 6 25 0.00198382 0.00200201 1 1 0 NTRK3 4916 broad.mit.edu 37 15 88678452 88678452 + Missense_Mutation SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:88678452A>T ENST00000394480.1 - 10 1405 c.1084T>A c.(1084-1086)Tgc>Agc p.C362S NTRK3_ENST00000357724.2_Missense_Mutation_p.C362S|NTRK3_ENST00000557856.1_Missense_Mutation_p.C362S|NTRK3_ENST00000542733.2_Missense_Mutation_p.C264S|NTRK3_ENST00000540489.2_Missense_Mutation_p.C362S|NTRK3_ENST00000360948.2_Missense_Mutation_p.C362S|NTRK3_ENST00000317501.3_Missense_Mutation_p.C362S|NTRK3_ENST00000558676.1_Missense_Mutation_p.C362S|NTRK3_ENST00000355254.2_Missense_Mutation_p.C362S NM_001243101.1|NM_002530.3 NP_001230030.1|NP_002521.2 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 362 Ig-like C2-type 2. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ETV6/NTRK3(238) breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2) 119 BRCA - Breast invasive adenocarcinoma(143;0.211) AAGAGCAGGCAGCCCTCGGAA 0.552000 T ETV6 """congenital fibrosarcoma, Secretory breast """ TSP Lung(13;0.10) 22 120 0 0 1 0 0 GOLGA5 9950 broad.mit.edu 37 14 93282745 93282745 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:93282745T>C ENST00000163416.2 + 7 1726 c.1470T>C c.(1468-1470)caT>caC p.H490H GOLGA5_ENST00000355976.2_Silent_p.H490H NM_005113.2 NP_005104.2 Q8TBA6 GOGA5_HUMAN golgin A5 490 Golgi organization cis-Golgi network|integral to membrane ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding large_intestine(6)|lung(1)|ovary(2) 9 all_cancers(154;0.0934) COAD - Colon adenocarcinoma(157;0.222) GCCAGATACATCAGCTCAGAT 0.478000 T RET papillary thyroid 4 142 0 0 1 0 0 FERMT3 83706 broad.mit.edu 37 11 63986797 63986797 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:63986797C>T ENST00000279227.5 + 7 956 c.861C>T c.(859-861)acC>acT p.T287T FERMT3_ENST00000345728.5_Silent_p.T287T NM_178443.2 NP_848537.1 Q86UX7 URP2_HUMAN fermitin family member 3 287 FERM. integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin cell junction|cell projection|podosome integrin binding breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 18 TTGACTGCACCGAGGAGGAGA 0.677000 6 21 0 0 1 0 0 C10orf2 56652 broad.mit.edu 37 10 102748696 102748696 + Silent SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:102748696C>A ENST00000370228.1 + 1 914 c.729C>A c.(727-729)gcC>gcA p.A243A C10orf2_ENST00000311916.2_Silent_p.A243A|C10orf2_ENST00000473656.1_Intron NM_001163812.1|NM_001163814.1 NP_001157284.1|NP_001157286.1 Q96RR1 PEO1_HUMAN chromosome 10 open reading frame 2 243 cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter mitochondrial nucleoid 5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1) 24 Colorectal(252;0.122)|all_hematologic(284;0.152) Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224) GACCCAGCGCCTACCACAATC 0.567000 27 76 4.87955e-14 5.09883e-14 1 1 0 TNR 7143 broad.mit.edu 37 1 175293598 175293598 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:175293598T>C ENST00000367674.1 - 22 4559 c.3851A>G c.(3850-3852)gAt>gGt p.D1284G TNR_ENST00000263525.2_Missense_Mutation_p.D1284G|RP3-518E13.2_ENST00000569593.1_RNA NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 1284 Fibrinogen C-terminal. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) CACTGCAACATCATTGTCTCT 0.502000 32 87 0 0 1 0 0 SMAD3 4088 broad.mit.edu 37 15 67459160 67459160 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:67459160T>C ENST00000327367.4 + 4 886 c.576T>C c.(574-576)agT>agC p.S192S SMAD3_ENST00000537194.2_5'UTR|SMAD3_ENST00000439724.3_Silent_p.S148S|SMAD3_ENST00000540846.2_Silent_p.S87S NM_005902.3 NP_005893.1 P84022 SMAD3_HUMAN SMAD family member 3 192 Linker. activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing cytosol|nuclear inner membrane|receptor complex beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125) GAGAAACCAGTGACCACCAGA 0.527000 3 6 0 0 1 0 0 ZSCAN5A 79149 broad.mit.edu 37 19 56733136 56733136 + Missense_Mutation SNP G G C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:56733136G>C ENST00000587340.1 - 7 1994 c.1299C>G c.(1297-1299)agC>agG p.S433R ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.S433R|ZSCAN5A_ENST00000254165.3_Missense_Mutation_p.S316R|ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.S432R|ZSCAN5A_ENST00000587492.1_Missense_Mutation_p.S287R Q9BUG6 ZSA5A_HUMAN zinc finger and SCAN domain containing 5A 433 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 CCCCTGTGTGGCTTCTCTTGT 0.537000 4 54 0 0 1 0 0 TNRC6A 27327 broad.mit.edu 37 16 24833454 24833454 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:24833454A>G ENST00000395799.3 + 23 5488 c.5359A>G c.(5359-5361)Aac>Gac p.N1787D TNRC6A_ENST00000315183.7_Missense_Mutation_p.N1738D|TNRC6A_ENST00000432286.2_Missense_Mutation_p.N265D NM_014494.2 NP_055309.2 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 1787 RRM.|Sufficient for interaction with EIF2C2. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 GBM - Glioblastoma multiforme(48;0.0394) TGTTCTAAAAAACCTTACACC 0.473000 17 43 0 0 1 0 0 OR2Y1 134083 broad.mit.edu 37 5 180166537 180166537 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:180166537A>G ENST00000307832.2 - 1 562 c.522T>C c.(520-522)aaT>aaC p.N174N NM_001001657.1 NP_001001657.1 Q8NGV0 OR2Y1_HUMAN olfactory receptor, family 2, subfamily Y, member 1 174 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114) all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AGAAGAAGTGATTCAGTCGAT 0.552000 18 73 0 0 1 0 0 GXYLT2 727936 broad.mit.edu 37 3 73006420 73006420 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:73006420T>C ENST00000389617.4 + 5 1054 c.893T>C c.(892-894)tTg>tCg p.L298S NM_001080393.1 NP_001073862.1 A0PJZ3 GXLT2_HUMAN glucoside xylosyltransferase 2 298 O-glycan processing integral to membrane UDP-xylosyltransferase activity NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 18 GAGGACATGTTGTACCCTCTG 0.413000 15 36 0 0 1 0 0 PDZD8 118987 broad.mit.edu 37 10 119042842 119042842 + Silent SNP T T C rs148191940 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:119042842T>C ENST00000334464.5 - 5 3641 c.3402A>G c.(3400-3402)ctA>ctG p.L1134L NM_173791.3 NP_776152.1 Q8NEN9 PDZD8_HUMAN PDZ domain containing 8 1134 intracellular signal transduction metal ion binding kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3) 38 Colorectal(252;0.19) all cancers(201;0.0121) GAGAGTCTATTAGTTGGCTTA 0.383000 6 72 0 0 1 0 0 TENM3 55714 broad.mit.edu 37 4 183675635 183675635 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:183675635G>A ENST00000511685.1 + 22 4238 c.4115G>A c.(4114-4116)cGt>cAt p.R1372H TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Missense_Mutation_p.R1372H teneurin transmembrane protein 3 p.R1372L(1)|p.R1372H(1) ACTGAAAATCGTCAAGTTCGC 0.493000 5 18 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72827996 72827996 + Missense_Mutation SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:72827996G>T ENST00000268489.5 - 9 9257 c.8585C>A c.(8584-8586)gCa>gAa p.A2862E ZFHX3_ENST00000397992.5_Missense_Mutation_p.A1948E NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 2862 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) GGTTTCAGTTGCTATTCCCGT 0.498000 4 171 0.00909568 0.00915862 1 1 0 METTL25 84190 broad.mit.edu 37 12 82792639 82792639 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:82792639A>G ENST00000248306.3 + 4 666 c.597A>G c.(595-597)aaA>aaG p.K199K METTL25_ENST00000547357.1_3'UTR NM_032230.2 NP_115606.2 methyltransferase like 25 ATGGCTTAAAAGTTTATGGAA 0.338000 9 44 0 0 1 0 0 UTP15 84135 broad.mit.edu 37 5 72868354 72868354 + Silent SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:72868354A>T ENST00000296792.4 + 7 969 c.714A>T c.(712-714)ggA>ggT p.G238G UTP15_ENST00000543251.1_Silent_p.G48G|UTP15_ENST00000508491.1_Silent_p.G219G NM_032175.2 NP_115551.2 Q8TED0 UTP15_HUMAN UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae) 238 rRNA processing cytoplasm|nucleolus endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2) 15 Lung NSC(167;0.00405)|Ovarian(174;0.0129) OV - Ovarian serous cystadenocarcinoma(47;7.76e-55) TAAAAGGAGGACAATTGCTAG 0.383000 55 177 0 0 1 0 0 MAP1S 55201 broad.mit.edu 37 19 17835879 17835879 + Missense_Mutation SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:17835879C>A ENST00000324096.4 + 4 476 c.325C>A c.(325-327)Cct>Act p.P109T MAP1S_ENST00000544059.2_Missense_Mutation_p.P83T|MAP1S_ENST00000597681.1_Intron NM_018174.4 NP_060644.4 Q66K74 MAP1S_HUMAN microtubule-associated protein 1S 109 Necessary for the microtubule-organizing center localization. apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse actin filament binding|beta-tubulin binding|DNA binding|microtubule binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 25 TCTGTTGGACCCTGCCTCTCA 0.607000 51 116 5.12918e-33 5.43649e-33 1 1 0 MYO5A 4644 broad.mit.edu 37 15 52609406 52609406 + Nonsense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:52609406G>A ENST00000399231.3 - 39 5416 c.5173C>T c.(5173-5175)Caa>Taa p.Q1725* MYO5A_ENST00000553916.1_Nonsense_Mutation_p.Q1723*|MYO5A_ENST00000356338.6_Nonsense_Mutation_p.Q1698*|MYO5A_ENST00000399233.2_Nonsense_Mutation_p.Q1722*|MYO5A_ENST00000358212.6_Nonsense_Mutation_p.Q1750* NM_000259.3 NP_000250.3 Q9Y4I1 MYO5A_HUMAN myosin VA (heavy chain 12, myoxin) 1725 Dilute. actin filament-based movement|transport cytoplasm|growth cone|myosin complex|ruffle actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1) 57 all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196) TCTTCCAGTTGACTGACATTG 0.388000 15 32 0 0 1 0 0 RANBP10 57610 broad.mit.edu 37 16 67761766 67761766 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:67761766C>T ENST00000317506.3 - 12 1623 c.1508G>A c.(1507-1509)gGc>gAc p.G503D RANBP10_ENST00000411657.2_Missense_Mutation_p.G416D|RANBP10_ENST00000536251.1_Missense_Mutation_p.G274D|RANBP10_ENST00000602677.1_Missense_Mutation_p.G533D|RANBP10_ENST00000448631.2_Missense_Mutation_p.G477D NM_020850.1 NP_065901.1 Q6VN20 RBP10_HUMAN RAN binding protein 10 503 endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1) 23 Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157) AGCCTGGTTGCCCCCGCAGAG 0.597000 14 41 0 0 1 0 0 MYO9A 4649 broad.mit.edu 37 15 72189934 72189934 + Nonsense_Mutation SNP G G C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:72189934G>C ENST00000356056.5 - 25 5382 c.4910C>G c.(4909-4911)tCa>tGa p.S1637* MYO9A_ENST00000424560.1_Nonsense_Mutation_p.S1637*|MYO9A_ENST00000444904.1_Nonsense_Mutation_p.S1618*|MYO9A_ENST00000566885.1_Nonsense_Mutation_p.S1257*|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000564571.1_Nonsense_Mutation_p.S1637* NM_006901.3 NP_008832.2 B2RTY4 MYO9A_HUMAN myosin IXA 1637 Tail. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 GCGATTATTTGAGAGTTTACA 0.418000 19 76 0 0 1 0 0 ZNF354B 117608 broad.mit.edu 37 5 178310261 178310261 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:178310261T>C ENST00000322434.3 + 5 1034 c.808T>C c.(808-810)Tat>Cat p.Y270H NM_058230.2 NP_478137.1 Q96LW1 Z354B_HUMAN zinc finger protein 354B 270 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1) 21 all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AGAGAAACCCTATATATGTAA 0.353000 35 98 0 0 1 0 0 ILVBL 10994 broad.mit.edu 37 19 15230010 15230010 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:15230010C>T ENST00000263383.3 - 9 1157 c.1018G>A c.(1018-1020)Gcc>Acc p.A340T ILVBL_ENST00000534378.1_Missense_Mutation_p.A233T NM_006844.3 NP_006835.2 A1L0T0 ILVBL_HUMAN ilvB (bacterial acetolactate synthase)-like 340 integral to membrane magnesium ion binding|thiamine pyrophosphate binding|transferase activity NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1) 26 TTCTTCAGGGCCGCACTGCGG 0.632000 5 100 0 0 1 0 0 PRDM15 63977 broad.mit.edu 37 21 43242348 43242348 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr21:43242348T>C ENST00000422911.1 - 16 2079 c.1978A>G c.(1978-1980)Aag>Gag p.K660E PRDM15_ENST00000538201.1_Missense_Mutation_p.K623E|PRDM15_ENST00000269844.3_Missense_Mutation_p.K969E|PRDM15_ENST00000447207.2_Missense_Mutation_p.K603E|PRDM15_ENST00000398548.1_Missense_Mutation_p.K640E P57071 PRD15_HUMAN PR domain containing 15 969 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1) 43 ATCCCGATCTTGCCGATAAAC 0.547000 5 122 0 0 1 0 0 RAB19 401409 broad.mit.edu 37 7 140110805 140110805 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:140110805T>C ENST00000275874.5 + 3 432 c.234T>C c.(232-234)agT>agC p.S78S RAB19_ENST00000537763.1_Intron|RAB19_ENST00000356407.3_Intron A4D1S5 RAB19_HUMAN RAB19, member RAS oncogene family 67 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1) 9 Melanoma(164;0.0142) CCTTTGCCAGTATTCAGATCC 0.423000 6 314 0 0 1 0 0 C9 735 broad.mit.edu 37 5 39331791 39331791 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:39331791G>A ENST00000263408.4 - 5 697 c.602C>T c.(601-603)tCt>tTt p.S201F C9_ENST00000509186.1_5'UTR NM_001737.3 NP_001728.1 P02748 CO9_HUMAN complement component 9 201 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes extracellular region|membrane attack complex central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 32 all_lung(31;0.000197) all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511) Epithelial(62;0.158) ATAGATCAAAGAAGCCACGTT 0.398000 35 80 0 0 1 0 0 USP43 124739 broad.mit.edu 37 17 9631694 9631694 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:9631694G>A ENST00000570827.2 + 15 2900 c.1826G>A c.(1825-1827)gGg>gAg p.G609E USP43_ENST00000285199.6_Missense_Mutation_p.G920E|USP43_ENST00000570475.1_Missense_Mutation_p.G915E Q70EL4 UBP43_HUMAN ubiquitin specific peptidase 43 920 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 26 GAAAATGCAGGGCAGGACATC 0.572000 3 27 0 0 1 0 0 UBR5 51366 broad.mit.edu 37 8 103359222 103359222 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:103359222C>T ENST00000520539.1 - 6 1091 c.485G>A c.(484-486)cGg>cAg p.R162Q UBR5_ENST00000521922.1_Missense_Mutation_p.R162Q|UBR5_ENST00000220959.4_Missense_Mutation_p.R162Q NM_015902.5 NP_056986.2 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 5 162 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) CCGTCCTGTCCGAATAACTCG 0.567000 67 208 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152283110 152283110 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:152283110G>A ENST00000368799.1 - 3 4287 c.4252C>T c.(4252-4254)Ccc>Tcc p.P1418S FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1418 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGCTGATGGGGCCCAGCTTGT 0.562000 Ichthyosis 10 475 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152417174 152417174 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:152417174T>C ENST00000397345.3 - 124 19448 c.19246A>G c.(19246-19248)Agc>Ggc p.S6416G NEB_ENST00000409198.1_Missense_Mutation_p.S4715G|NEB_ENST00000172853.10_Missense_Mutation_p.S4715G|NEB_ENST00000427231.2_Missense_Mutation_p.S6416G|NEB_ENST00000603639.1_Missense_Mutation_p.S6416G|NEB_ENST00000604864.1_Missense_Mutation_p.S6416G NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 6415 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) AGGATGTAGCTGGTGGCTTTC 0.478000 8 16 0 0 1 0 0 WTAP 9589 broad.mit.edu 37 6 160176433 160176433 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:160176433T>C ENST00000358372.4 + 8 2738 c.981T>C c.(979-981)ggT>ggC p.G327G SOD2_ENST00000546087.1_Intron NM_001270531.1|NM_004906.4 NP_001257460.1|NP_004897.2 Q15007 FL2D_HUMAN Wilms tumor 1 associated protein 327 cell cycle|mRNA processing|RNA splicing nuclear membrane|nucleolus central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1) 18 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06) GAGGTAGTGGTTACGTAAATC 0.493000 19 80 0 0 1 0 0 NDNL2 56160 broad.mit.edu 37 15 29561504 29561504 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:29561504A>G ENST00000332303.4 - 1 529 c.406T>C c.(406-408)Tac>Cac p.Y136H FAM189A1_ENST00000261275.4_Intron NM_138704.3 NP_619649.1 Q96MG7 MAGG1_HUMAN necdin-like 2 136 MAGE. regulation of growth cytoplasm|nucleus breast(3)|large_intestine(2)|lung(3) 8 all_lung(180;4.69e-11)|Breast(32;0.0013) all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153) CCGAAGACGTACTGGAGGCGC 0.567000 25 52 0 0 1 0 0 UBN2 254048 broad.mit.edu 37 7 138967993 138967993 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:138967993A>G ENST00000288561.8 + 15 2342 c.2093A>G c.(2092-2094)aAc>aGc p.N698S UBN2_ENST00000473989.2_Missense_Mutation_p.N781S NM_173569.3 NP_775840.3 Q6ZU65 UBN2_HUMAN ubinuclein 2 781 NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 42 AACAATGGGAACAAGGGCCCT 0.463000 4 168 0 0 1 0 0 SORCS1 114815 broad.mit.edu 37 10 108589383 108589383 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:108589383A>G ENST00000263054.6 - 3 682 c.675T>C c.(673-675)ggT>ggC p.G225G SORCS1_ENST00000344440.6_Silent_p.G225G NM_001206570.1|NM_052918.4 NP_001193499.1|NP_443150.3 Q8WY21 SORC1_HUMAN sortilin-related VPS10 domain containing receptor 1 225 integral to membrane neuropeptide receptor activity|protein binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 127 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) TGGTTTTCAAACCAACTTTAT 0.368000 27 63 0 0 1 0 0 FNIP2 57600 broad.mit.edu 37 4 159790348 159790348 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:159790348G>A ENST00000264433.6 + 13 2635 c.2560G>A c.(2560-2562)Gcc>Acc p.A854T FNIP2_ENST00000379346.3_Missense_Mutation_p.A877T NM_020840.1 NP_065891.1 Q9P278 FNIP2_HUMAN folliculin interacting protein 2 854 Interaction with PRKAA1. DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation cytoplasm protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1) 9 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.00936) GGAGCCTGTTGCCCCCAGGTG 0.617000 4 123 0 0 1 0 0 FAT2 2196 broad.mit.edu 37 5 150923823 150923823 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:150923823T>C ENST00000261800.5 - 9 6877 c.6865A>G c.(6865-6867)Acc>Gcc p.T2289A NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 2289 Cadherin 20. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ATCACAGGGGTCTGAGCAGGC 0.502000 10 128 0 0 1 0 0 RAP1GAP 5909 broad.mit.edu 37 1 21936761 21936761 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:21936761C>T ENST00000542643.2 - 15 1153 c.851G>A c.(850-852)cGg>cAg p.R284Q RAP1GAP_ENST00000374761.2_Missense_Mutation_p.R315Q|RAP1GAP_ENST00000290101.4_Missense_Mutation_p.R348Q|RAP1GAP_ENST00000374763.2_Missense_Mutation_p.R284Q|RAP1GAP_ENST00000374765.4_Missense_Mutation_p.R284Q NM_001145657.1 NP_001139129.1 P47736 RPGP1_HUMAN RAP1 GTPase activating protein 284 Rap-GAP. regulation of Ras GTPase activity|signal transduction cytosol|Golgi membrane|membrane fraction GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1) 17 Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146) GTGCCGCTTCCGCTGCAACTG 0.617000 18 72 0 0 1 0 0 AC096579.13 0 broad.mit.edu 37 2 89156999 89156999 + RNA SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:89156999T>C ENST00000452230.1 - 0 39 IGKC_ENST00000390237.2_RNA|AC096579.7_ENST00000430694.1_RNA CTGCTGAGGCTGTAGGTGCTG 0.567000 4 64 0 0 1 0 0 CSF2RB 1439 broad.mit.edu 37 22 37319379 37319379 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr22:37319379T>C ENST00000262825.5 + 3 387 c.170T>C c.(169-171)gTc>gCc p.V57A CSF2RB_ENST00000403662.3_Missense_Mutation_p.V57A|CSF2RB_ENST00000406230.1_Missense_Mutation_p.V57A NM_000395.2 NP_000386.1 P32927 IL3RB_HUMAN colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) 57 respiratory gaseous exchange granulocyte macrophage colony-stimulating factor receptor complex cytokine receptor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2) 42 Sargramostim(DB00020) CAGCGGCTCGTCAACGTGACC 0.642000 15 41 0 0 1 0 0 SLC25A42 284439 broad.mit.edu 37 19 19221656 19221656 + Nonsense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:19221656C>T ENST00000318596.7 + 8 1079 c.928C>T c.(928-930)Cag>Tag p.Q310* NM_178526.4 NP_848621.2 Q86VD7 S2542_HUMAN solute carrier family 25, member 42 310 transmembrane transport integral to membrane|mitochondrial inner membrane binding cervix(1)|large_intestine(2)|lung(3) 6 OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497) CGACCTCATGCAGATCCTGCT 0.637000 21 81 0 0 1 0 0 ATL2 64225 broad.mit.edu 37 2 38570428 38570428 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:38570428A>G ENST00000378954.4 - 2 346 c.345T>C c.(343-345)ctT>ctC p.L115L ATL2_ENST00000452935.2_Silent_p.L97L|ATL2_ENST00000332337.4_Silent_p.L97L|ATL2_ENST00000546051.1_Intron|ATL2_ENST00000539122.1_Intron|ATL2_ENST00000406122.1_Intron|ATL2_ENST00000402054.1_Intron|ATL2_ENST00000419554.2_Silent_p.L115L NM_001135673.1|NM_022374.2 NP_001129145.1|NP_071769.2 Q8NHH9 ATLA2_HUMAN atlastin GTPase 2 115 endoplasmic reticulum organization|Golgi organization|protein homooligomerization endoplasmic reticulum membrane|integral to membrane GTP binding|GTPase activity|identical protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 22 ACATGTATCTAAGCATGAAGT 0.348000 25 60 0 0 1 0 0 ATXN7 6314 broad.mit.edu 37 3 63982054 63982054 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:63982054A>G ENST00000398590.3 + 12 3109 c.2556A>G c.(2554-2556)aaA>aaG p.K852K ATXN7_ENST00000295900.6_Silent_p.K852K|ATXN7_ENST00000487717.1_Silent_p.K852K|ATXN7_ENST00000484332.1_Silent_p.K707K|ATXN7_ENST00000538065.1_Silent_p.K852K NM_001177387.1 NP_001170858.1 O15265 ATX7_HUMAN ataxin 7 852 cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nuclear matrix|nucleolus protein binding|zinc ion binding NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3) 35 Prostate(884;0.0181) BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305) GCAGCAGCAAACCCACAAAGG 0.507000 10 81 0 0 1 0 0 NOL11 25926 broad.mit.edu 37 17 65735667 65735667 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:65735667G>A ENST00000253247.4 + 16 1993 c.1878G>A c.(1876-1878)aaG>aaA p.K626K NOL11_ENST00000535137.1_Silent_p.K444K NM_015462.3 NP_056277.2 Q9H8H0 NOL11_HUMAN nucleolar protein 11 626 nucleolus haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1) 11 all_cancers(12;1.54e-10) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24) TGTACCTGAAGTGTAGCGAAA 0.338000 16 46 0 0 1 0 0 CHMP7 91782 broad.mit.edu 37 8 23116637 23116637 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:23116637T>C ENST00000397677.1 + 9 1766 c.1118T>C c.(1117-1119)tTa>tCa p.L373S CHMP7_ENST00000520102.1_3'UTR|CHMP7_ENST00000313219.7_Missense_Mutation_p.L373S NM_152272.3 NP_689485.1 Q8WUX9 CHMP7_HUMAN charged multivesicular body protein 7 373 cellular membrane organization|late endosome to vacuole transport cytosol|ESCRT III complex protein transporter activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1) 11 Prostate(55;0.0513) Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632) ACAAATGGCTTAGGTGAGTGG 0.448000 4 186 0 0 1 0 0 GTF2I 2969 broad.mit.edu 37 7 74113333 74113333 + Missense_Mutation SNP A A C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:74113333A>C ENST00000324896.4 + 4 670 c.281A>C c.(280-282)aAa>aCa p.K94T GTF2I_ENST00000443166.1_Missense_Mutation_p.K94T|AC083884.8_ENST00000450426.2_RNA|GTF2I_ENST00000346152.4_Missense_Mutation_p.K94T|GTF2I_ENST00000353920.4_Missense_Mutation_p.K94T|GTF2I_ENST00000416070.1_Missense_Mutation_p.K94T NM_032999.2 NP_127492.1 P78347 GTF2I_HUMAN general transcription factor IIi 94 negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 19 CATAAAATGAAATCTACAACC 0.313000 3 8 0 0 1 0 0 DHH 50846 broad.mit.edu 37 12 49485061 49485061 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:49485061A>G ENST00000266991.2 - 2 721 c.415T>C c.(415-417)Tca>Cca p.S139P RP11-386G11.8_ENST00000553174.1_RNA NM_021044.2 NP_066382.1 O43323 DHH_HUMAN desert hedgehog 139 cell-cell signaling|proteolysis extracellular space|plasma membrane calcium ion binding|peptidase activity|zinc ion binding breast(1)|large_intestine(3)|lung(4) 8 TAGTGGAGTGAATCCTGAGCG 0.622000 45 123 0 0 1 0 0 PXN 5829 broad.mit.edu 37 12 120652959 120652959 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:120652959C>T ENST00000397506.3 - 5 1540 c.487G>A c.(487-489)Gcc>Acc p.A163T PXN_ENST00000424649.2_Missense_Mutation_p.A317T|PXN_ENST00000267257.7_Missense_Mutation_p.A365T|PXN_ENST00000458477.2_Missense_Mutation_p.A184T|PXN_ENST00000536957.1_Missense_Mutation_p.A349T|PXN_ENST00000228307.7_Missense_Mutation_p.A351T|PXN_ENST00000538144.1_5'UTR P49023 PAXI_HUMAN paxillin 351 cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly cytoplasm|focal adhesion|lamellipodium|microtubule associated complex beta-catenin binding|vinculin binding|zinc ion binding breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GCGACTGTGGCGACCCCCAGC 0.692000 13 21 0 0 1 0 0 SLC39A7 7922 broad.mit.edu 37 6 33170386 33170386 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:33170386A>G ENST00000374677.3 + 5 1222 c.849A>G c.(847-849)acA>acG p.T283T SLC39A7_ENST00000374675.3_Silent_p.T283T|SLC39A7_ENST00000463972.1_3'UTR NM_006979.2 NP_008910.2 Q92504 S39A7_HUMAN solute carrier family 39 (zinc transporter), member 7 283 endoplasmic reticulum membrane|integral to membrane|membrane fraction protein binding|zinc ion transmembrane transporter activity NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 18 AAAAGGAAACAAGAGGGGTTC 0.498000 12 37 0 0 1 0 0 ASPHD2 57168 broad.mit.edu 37 22 26829974 26829974 + Missense_Mutation SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr22:26829974G>T ENST00000215906.5 + 2 831 c.393G>T c.(391-393)caG>caT p.Q131H NM_020437.4 NP_065170.2 Q6ICH7 ASPH2_HUMAN aspartate beta-hydroxylase domain containing 2 131 peptidyl-amino acid modification integral to endoplasmic reticulum membrane oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1) 16 ACAACCTGCAGGAGTACGCCA 0.642000 16 56 2.23348e-06 2.28775e-06 1 1 0 PPFIBP1 8496 broad.mit.edu 37 12 27829385 27829385 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:27829385C>T ENST00000318304.8 + 18 1769 c.1486C>T c.(1486-1488)Cca>Tca p.P496S PPFIBP1_ENST00000542629.1_Missense_Mutation_p.P465S|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.P479S|PPFIBP1_ENST00000537927.1_Missense_Mutation_p.P343S NM_001198916.1|NM_177444.2 NP_001185845.1|NP_803193.2 Q86W92 LIPB1_HUMAN PTPRF interacting protein, binding protein 1 (liprin beta 1) 496 cell adhesion plasma membrane protein binding PPFIBP1/ALK(3) central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1) 32 Lung SC(9;0.0873) AGAAAGCAGGCCATTTGGGAC 0.557000 64 86 0 0 1 0 0 NXF3 56000 broad.mit.edu 37 X 102332636 102332636 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chrX:102332636G>A ENST00000395065.3 - 18 1591 c.1490C>T c.(1489-1491)aCc>aTc p.T497I NXF3_ENST00000497850.1_5'UTR|NXF3_ENST00000425644.1_Missense_Mutation_p.T169I NM_022052.1 NP_071335.1 Q9H4D5 NXF3_HUMAN nuclear RNA export factor 3 497 cytoplasm|nuclear RNA export factor complex nucleocytoplasmic transporter activity|nucleotide binding|protein binding NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 TTGGTGGCTGGTATCCCGCAC 0.577000 54 56 0 0 1 0 0 WDR17 116966 broad.mit.edu 37 4 177046431 177046431 + Missense_Mutation SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:177046431A>T ENST00000393643.2 + 5 967 c.715A>T c.(715-717)Aat>Tat p.N239Y WDR17_ENST00000507824.2_Missense_Mutation_p.N246Y|WDR17_ENST00000280190.4_Missense_Mutation_p.N263Y|WDR17_ENST00000508596.1_Missense_Mutation_p.N239Y NM_170710.4 NP_733828.2 Q8IZU2 WDR17_HUMAN WD repeat domain 17 263 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 92 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) AACAACATTTAATCTTCCCAG 0.438000 35 92 0 0 1 0 0 SPOCD1 90853 broad.mit.edu 37 1 32267263 32267263 + Splice_Site SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:32267263A>G ENST00000360482.2 - 3 1555 c.e3+1 SPOCD1_ENST00000533231.1_Splice_Site|SPOCD1_ENST00000257100.3_Splice_Site|SPOCD1_ENST00000373648.2_Splice_Site NM_144569.4 NP_653170.3 Q6ZMY3 SPOC1_HUMAN SPOC domain containing 1 transcription, DNA-dependent NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2) 37 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199) STAD - Stomach adenocarcinoma(196;0.18) GTAAAAACCTACGTAGCACAC 0.507000 30 97 0 0 1 0 0 GPD2 2820 broad.mit.edu 37 2 157406154 157406154 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:157406154T>C ENST00000310454.6 + 7 1068 c.696T>C c.(694-696)atT>atC p.I232I GPD2_ENST00000438166.2_Silent_p.I232I|GPD2_ENST00000540309.1_Silent_p.I232I|GPD2_ENST00000409674.1_Silent_p.I232I|GPD2_ENST00000409125.4_Silent_p.I5I NM_001083112.2 NP_001076581.2 P43304 GPDM_HUMAN glycerol-3-phosphate dehydrogenase 2 (mitochondrial) 232 cellular lipid metabolic process glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1) 22 ACCTTGCCATTGCTCTGACTG 0.552000 16 83 0 0 1 0 0 LRIT1 26103 broad.mit.edu 37 10 85992579 85992579 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:85992579A>G ENST00000372105.3 - 4 997 c.976T>C c.(976-978)Tac>Cac p.Y326H NM_015613.2 NP_056428.1 Q9P2V4 LRIT1_HUMAN leucine-rich repeat, immunoglobulin-like and transmembrane domains 1 326 Ig-like C2-type. integral to endoplasmic reticulum membrane breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1) 23 TGGCAGATGTAGTCTCCGGAG 0.567000 12 28 0 0 1 0 0 CCDC151 115948 broad.mit.edu 37 19 11545754 11545754 + Missense_Mutation SNP C C G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:11545754C>G ENST00000356392.4 - 1 171 c.84G>C c.(82-84)aaG>aaC p.K28N CCDC151_ENST00000586836.1_Intron|CCDC151_ENST00000545100.1_Intron|CCDC151_ENST00000591179.1_Missense_Mutation_p.K28N NM_145045.4 NP_659482.3 A5D8V7 CC151_HUMAN coiled-coil domain containing 151 28 endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1) 12 CCTCCCTGCCCTTGACCCTGG 0.667000 OREG0025257 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 27 97 0 0 1 0 0 MC5R 4161 broad.mit.edu 37 18 13826297 13826297 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr18:13826297T>C ENST00000324750.3 + 1 755 c.533T>C c.(532-534)aTc>aCc p.I178T NM_005913.2 NP_005904.1 P33032 MC5R_HUMAN melanocortin 5 receptor 178 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocortin receptor activity|protein binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1) 41 ATTGTCTTCATCCTGTACTCA 0.562000 165 606 0 0 1 0 0 CELSR2 1952 broad.mit.edu 37 1 109804950 109804950 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:109804950G>A ENST00000271332.3 + 6 4489 c.4428G>A c.(4426-4428)gaG>gaA p.E1476E NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 1476 Laminin G-like 1. dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) GCCCATCAGAGCAGAAGGTGG 0.607000 17 38 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49432223 49432223 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:49432223C>T ENST00000301067.7 - 34 8915 c.8916G>A c.(8914-8916)gaG>gaA p.E2972E NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D GGCGGCCAAGCTCAGTGCTCG 0.592000 35 122 0 0 1 0 0 CYP2A13 1553 broad.mit.edu 37 19 41596072 41596072 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:41596072T>C ENST00000330436.3 + 3 464 c.464T>C c.(463-465)tTc>tCc p.F155S NM_000766.4 NP_000757.2 Q16696 CP2AD_HUMAN cytochrome P450, family 2, subfamily A, polypeptide 13 155 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2) 42 Clomipramine(DB01242)|Nicotine(DB00184) GAGGCGGGCTTCCTCATCGAC 0.692000 19 47 0 0 1 0 0 SCAF4 57466 broad.mit.edu 37 21 33044429 33044429 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr21:33044429G>A ENST00000286835.7 - 20 3109 c.2727C>T c.(2725-2727)ttC>ttT p.F909F SCAF4_ENST00000434667.3_Silent_p.F894F|SCAF4_ENST00000399804.1_Silent_p.F887F NM_020706.2 NP_065757.1 O95104 SFR15_HUMAN SR-related CTD-associated factor 4 909 nucleus nucleotide binding|RNA binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 CATGCGGTGGGAAGGGACCTT 0.662000 31 72 0 0 1 0 0 KDM2B 84678 broad.mit.edu 37 12 121868266 121868266 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:121868266T>C ENST00000377069.4 - 22 4035 c.3629A>G c.(3628-3630)aAt>aGt p.N1210S KDM2B_ENST00000536437.1_Missense_Mutation_p.I539V|RNF34_ENST00000392464.2_Missense_Mutation_p.I498T|KDM2B_ENST00000377071.4_Missense_Mutation_p.N1279S|KDM2B_ENST00000542973.1_Missense_Mutation_p.N647S NM_001005366.1 NP_001005366.1 Q8NHM5 KDM2B_HUMAN lysine (K)-specific demethylase 2B 1279 embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 19 AGTGACCTTATTGCAGTCTGC 0.537000 4 196 0 0 1 0 0 HTT 3064 broad.mit.edu 37 4 3234934 3234934 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:3234934G>A ENST00000355072.5 + 61 8455 c.8310G>A c.(8308-8310)acG>acA p.T2770T HTT_ENST00000513806.1_Intron NM_002111.6 NP_002102.4 P42858 HD_HUMAN huntingtin 2770 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 87 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) TGGAGAGCACGCTCAGGAGCA 0.647000 54 140 0 0 1 0 0 ACLY 47 broad.mit.edu 37 17 40061860 40061860 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:40061860C>T ENST00000352035.2 - 9 1048 c.918G>A c.(916-918)gaG>gaA p.E306E ACLY_ENST00000537919.1_Intron|ACLY_ENST00000590151.1_Silent_p.E306E|ACLY_ENST00000393896.2_Silent_p.E306E|ACLY_ENST00000353196.1_Silent_p.E306E NM_001096.2 NP_001087.2 P53396 ACLY_HUMAN ATP citrate lyase 306 ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process citrate lyase complex|cytosol|nucleus ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity NTN1/ACLY(2) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 Breast(137;0.000143) CGCCTGAGTACTCCCCATAGT 0.557000 6 138 0 0 1 0 0 CCDC78 124093 broad.mit.edu 37 16 774145 774145 + Silent SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:774145G>T ENST00000293889.6 - 10 1119 c.1014C>A c.(1012-1014)ccC>ccA p.P338P NM_001031737.2 NP_001026907.2 A2IDD5 CCD78_HUMAN coiled-coil domain containing 78 338 central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(2)|skin(3) 9 Hepatocellular(780;0.0218) CCAGGGGCACGGGCAATGGTT 0.637000 21 86 1.55795e-14 1.62985e-14 1 1 0 ATP2A1 487 broad.mit.edu 37 16 28914656 28914656 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:28914656C>T ENST00000395503.4 + 21 3059 c.2875C>T c.(2875-2877)Ctc>Ttc p.L959F ATP2A1_ENST00000536376.1_Missense_Mutation_p.L834F|ATP2A1_ENST00000357084.3_Missense_Mutation_p.L959F NM_004320.4 NP_004311.1 O14983 AT2A1_HUMAN ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 959 apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2) 38 GATCTTCAAGCTCCGGGCCCT 0.622000 5 137 0 0 1 0 0 DVL1 1855 broad.mit.edu 37 1 1274021 1274021 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:1274021G>A ENST00000378888.5 - 12 1504 c.1220C>T c.(1219-1221)gCg>gTg p.A407V DVL1_ENST00000378891.5_Missense_Mutation_p.A382V O14640 DVL1_HUMAN dishevelled segment polarity protein 1 407 canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome frizzled binding|identical protein binding|protein kinase binding|signal transducer activity endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 13 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) CGTCAGCGGCGCCTCTTCCAG 0.662000 14 30 0 0 1 0 0 LDLR 3949 broad.mit.edu 37 19 11227551 11227551 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:11227551C>T ENST00000558518.1 + 12 1909 c.1722C>T c.(1720-1722)cgC>cgT p.R574R LDLR_ENST00000535915.1_Silent_p.R533R|LDLR_ENST00000558013.1_Silent_p.R574R|LDLR_ENST00000545707.1_Silent_p.R447R|LDLR_ENST00000455727.2_Silent_p.R406R|LDLR_ENST00000557933.1_Silent_p.R574R NM_000527.4|NM_001195798.1 NP_000518.1|NP_001182727.1 P01130 LDLR_HUMAN low density lipoprotein receptor 574 cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity p.?(1) breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524) GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197) Methyl aminolevulinate(DB00992)|Porfimer(DB00707) TCAGTGGCCGCCTCTACTGGG 0.587000 5 277 0 0 1 0 0 CR2 1380 broad.mit.edu 37 1 207648545 207648545 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:207648545A>G ENST00000367057.3 + 14 2889 c.2700A>G c.(2698-2700)ccA>ccG p.P900P CR2_ENST00000367058.3_Silent_p.P841P|CR2_ENST00000367059.3_Silent_p.P841P|CR2_ENST00000458541.2_Silent_p.P814P NM_001006658.2 NP_001006659.1 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) receptor 2 966 Sushi 14. complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1) 69 CAGGTGTGCCAACTTGTATCA 0.403000 29 92 0 0 1 0 0 SLC35C2 51006 broad.mit.edu 37 20 44983791 44983791 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:44983791G>A ENST00000372227.1 - 6 1038 c.498C>T c.(496-498)ttC>ttT p.F166F SLC35C2_ENST00000543605.1_Silent_p.F195F|SLC35C2_ENST00000372230.5_Silent_p.F166F|SLC35C2_ENST00000317734.8_Silent_p.F145F|SLC35C2_ENST00000372229.1_Silent_p.F33F|SLC35C2_ENST00000243896.2_Silent_p.F166F Q9NQQ7 S35C2_HUMAN solute carrier family 35 (GDP-fucose transporter), member C2 166 transport integral to membrane cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1) 16 Myeloproliferative disorder(115;0.0122) GCACCAAGGCGAAGCCCTCCA 0.617000 34 65 0 0 1 0 0 DBNDD2 55861 broad.mit.edu 37 20 44037154 44037154 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:44037154T>C ENST00000372712.2 + 2 628 c.47T>C c.(46-48)cTt>cCt p.L16P DBNDD2_ENST00000372720.3_Missense_Mutation_p.L114P|DBNDD2_ENST00000372717.1_Missense_Mutation_p.L16P|SYS1-DBNDD2_ENST00000452133.1_3'UTR|DBNDD2_ENST00000372710.3_Missense_Mutation_p.L118P|DBNDD2_ENST00000360981.4_Missense_Mutation_p.L16P|SYS1-DBNDD2_ENST00000475242.1_3'UTR|DBNDD2_ENST00000372722.3_Missense_Mutation_p.L16P|DBNDD2_ENST00000357275.2_Missense_Mutation_p.L16P|DBNDD2_ENST00000372723.3_Missense_Mutation_p.L16P Q9BQY9 DBND2_HUMAN dysbindin (dystrobrevin binding protein 1) domain containing 2 114 negative regulation of protein kinase activity cytoplasm protein binding breast(1)|lung(2) 3 Myeloproliferative disorder(115;0.0122) CAGCTCCGCCTTCGGGAGCGG 0.552000 34 98 0 0 1 0 0 ACAD10 80724 broad.mit.edu 37 12 112182670 112182670 + Missense_Mutation SNP T T A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:112182670T>A ENST00000455480.2 + 14 2208 c.2031T>A c.(2029-2031)caT>caA p.H677Q ACAD10_ENST00000313698.4_Missense_Mutation_p.H646Q|ACAD10_ENST00000549590.1_Missense_Mutation_p.H646Q|ACAD10_ENST00000392636.2_Missense_Mutation_p.H248Q|ACAD10_ENST00000413681.3_3'UTR NM_001136538.1 NP_001130010.1 Q6JQN1 ACD10_HUMAN acyl-CoA dehydrogenase family, member 10 646 acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5) 47 CCCCAGCTCATACCTCAAGGG 0.577000 29 87 0 0 1 0 0 PHF20L1 51105 broad.mit.edu 37 8 133848928 133848928 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:133848928A>G ENST00000395386.2 + 16 2352 c.2053A>G c.(2053-2055)Att>Gtt p.I685V PHF20L1_ENST00000395390.2_Missense_Mutation_p.I660V|PHF20L1_ENST00000220847.7_Missense_Mutation_p.I72V NM_016018.4 NP_057102.4 A8MW92 P20L1_HUMAN PHD finger protein 20-like 1 685 nucleic acid binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2) 15 all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;4.46e-05) TGTGCGATGTATTTGTGAGAT 0.398000 4 144 0 0 1 0 0 POLR2I 5438 broad.mit.edu 37 19 36604715 36604715 + Missense_Mutation SNP G G C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:36604715G>C ENST00000221859.4 - 6 809 c.320C>G c.(319-321)gCc>gGc p.A107G NM_006233.4 NP_006224.1 P36954 RPB9_HUMAN polymerase (RNA) II (DNA directed) polypeptide I, 14.5kDa 107 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|zinc ion binding kidney(1)|large_intestine(1)|ovary(1) 3 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) AAGGCGCATGGCGTCCTGGCA 0.557000 OREG0025437 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 39 0 0 1 0 0 ZZZ3 26009 broad.mit.edu 37 1 78098499 78098499 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:78098499T>C ENST00000370801.3 - 5 1016 c.541A>G c.(541-543)Aat>Gat p.N181D ZZZ3_ENST00000370798.1_Intron|ZZZ3_ENST00000476275.1_5'UTR NM_015534.4 NP_056349.1 Q8IYH5 ZZZ3_HUMAN zinc finger, ZZ-type containing 3 181 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2) 39 TCACTGACATTCACCTTTTTA 0.398000 19 195 0 0 1 0 0 OR2K2 26248 broad.mit.edu 37 9 114089977 114089977 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:114089977A>G ENST00000374428.1 - 1 823 c.824T>C c.(823-825)gTg>gCg p.V275A OR2K2_ENST00000302681.1_Missense_Mutation_p.V246A Q8NGT1 OR2K2_HUMAN olfactory receptor, family 2, subfamily K, member 2 275 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2) 20 CAAAATCACCACAGTCAAATG 0.418000 20 58 0 0 1 0 0 MAGI2 9863 broad.mit.edu 37 7 78119086 78119086 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:78119086T>C ENST00000354212.4 - 6 1290 c.1037A>G c.(1036-1038)aAa>aGa p.K346R MAGI2_ENST00000522391.1_Missense_Mutation_p.K346R|MAGI2_ENST00000535697.1_Missense_Mutation_p.K183R|MAGI2_ENST00000419488.1_Missense_Mutation_p.K346R|MAGI2_ENST00000536571.1_Missense_Mutation_p.K178R NM_012301.3 NP_036433.2 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 2 346 Interaction with DDN. cell junction|synapse|synaptosome phosphatase binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3) 84 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) ACCATTTTCTTTGCACTCTTC 0.388000 6 203 0 0 1 0 0 TIMMDC1 51300 broad.mit.edu 37 3 119217736 119217736 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:119217736A>G ENST00000494664.1 + 1 358 c.156A>G c.(154-156)gaA>gaG p.E52E TIMMDC1_ENST00000493694.1_Silent_p.E52E NM_016589.3 NP_057673.2 Q9NPL8 TIDC1_HUMAN translocase of inner mitochondrial membrane domain containing 1 52 integral to membrane|mitochondrial inner membrane protein transporter activity autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1) 15 ATTACCCGGAATCTGGATGGG 0.602000 40 113 0 0 1 0 0 TCERG1 10915 broad.mit.edu 37 5 145838593 145838593 + Silent SNP G G A rs140816235 byFrequency TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:145838593G>A ENST00000296702.5 + 4 623 c.585G>A c.(583-585)gcG>gcA p.A195A TCERG1_ENST00000394421.2_Silent_p.A195A NM_006706.3 NP_006697.2 O14776 TCRG1_HUMAN transcription elongation regulator 1 195 Ala/Gln-rich. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding|transcription coactivator activity p.A195A(1) breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1) 46 Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) aggcccaggcgcaggctcagg 0.667000 16 57 0 0 1 0 0 PAK6 56924 broad.mit.edu 37 15 40557143 40557143 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:40557143G>A ENST00000455577.2 + 4 1069 c.157G>A c.(157-159)Gtg>Atg p.V53M PAK6_ENST00000542403.2_Missense_Mutation_p.V53M|PAK6_ENST00000260404.4_Missense_Mutation_p.V53M|RP11-133K1.2_ENST00000558658.1_Silent_p.P146P|PAK6_ENST00000560346.1_Missense_Mutation_p.V53M|PAK6_ENST00000453867.1_Missense_Mutation_p.V53M|PAK6_ENST00000441369.1_Missense_Mutation_p.V53M NM_001276718.1 NP_001263647.1 Q9NQU5 PAK6_HUMAN p21 protein (Cdc42/Rac)-activated kinase 6 53 Linker. ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2) 24 all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544) CCCCAAGCCCGTGGTGGACCC 0.622000 25 82 0 0 1 0 0 CRLF2 64109 broad.mit.edu 37 X 1327714 1327714 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chrX:1327714A>G ENST00000381567.3 - 2 166 c.167T>C c.(166-168)cTg>cCg p.L56P CRLF2_ENST00000467626.1_5'UTR|CRLF2_ENST00000381566.1_Missense_Mutation_p.L56P NM_022148.2 NP_071431.2 Q9HC73 CRLF2_HUMAN cytokine receptor-like factor 2 56 extracellular region|integral to membrane|plasma membrane receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9) 20 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) GTGGAAAGTCAGGTTGGTCCT 0.507000 """Mis, T""" """P2RY8, IGH@""" """B-ALL, Downs associated ALL""" 6 139 0 0 1 0 0 FAM122A 116224 broad.mit.edu 37 9 71395719 71395719 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:71395719G>A ENST00000394264.3 + 1 756 c.639G>A c.(637-639)caG>caA p.Q213Q PIP5K1B_ENST00000541509.1_Intron|PIP5K1B_ENST00000265382.3_Intron NM_138333.3 NP_612206.3 Q96E09 F122A_HUMAN family with sequence similarity 122A 213 endometrium(1)|lung(2) 3 CTGAATATCAGCCAAAGAGAT 0.453000 21 107 0 0 1 0 0 POU3F3 5455 broad.mit.edu 37 2 105473289 105473289 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:105473289G>A ENST00000361360.2 + 1 1321 c.1321G>A c.(1321-1323)Gac>Aac p.D441N RP11-13J10.1_ENST00000598623.1_RNA NM_006236.1 NP_006227.1 P20264 PO3F3_HUMAN POU class 3 homeobox 3 441 metanephric ascending thin limb development|metanephric DCT cell differentiation|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation nucleus sequence-specific DNA binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 12 CAACCTGGCCGACAGCCTGCA 0.642000 12 48 0 0 1 0 0 KAT2B 8850 broad.mit.edu 37 3 20153137 20153137 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:20153137T>C ENST00000263754.4 + 6 1356 c.901T>C c.(901-903)Tac>Cac p.Y301H NM_003884.4 NP_003875.3 Q92831 KAT2B_HUMAN K(lysine) acetyltransferase 2B 301 cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 40 TCTACCTCGGTACGAAACCAC 0.488000 18 57 0 0 1 0 0 RALGAPB 57148 broad.mit.edu 37 20 37144935 37144935 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:37144935T>C ENST00000262879.6 + 7 1257 c.973T>C c.(973-975)Tat>Cat p.Y325H RALGAPB_ENST00000397042.3_Missense_Mutation_p.Y325H|RALGAPB_ENST00000397038.1_Missense_Mutation_p.Y103H|RALGAPB_ENST00000537204.1_Missense_Mutation_p.Y325H|RALGAPB_ENST00000397040.1_Missense_Mutation_p.Y325H Q86X10 RLGPB_HUMAN Ral GTPase activating protein, beta subunit (non-catalytic) 325 activation of Ral GTPase activity intracellular protein heterodimerization activity|Ral GTPase activator activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 ATTGAATCAGTATCCCTGCCT 0.413000 47 154 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151849901 151849901 + Nonsense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:151849901G>A ENST00000355193.2 - 50 12804 c.12586C>T c.(12586-12588)Cga>Tga p.R4196* KMT2C_ENST00000262189.6_Nonsense_Mutation_p.R4139* lysine (K)-specific methyltransferase 2C AAATGCTGTCGATACTCCAAA 0.527000 47 109 0 0 1 0 0 IGDCC3 9543 broad.mit.edu 37 15 65624371 65624371 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:65624371T>C ENST00000327987.4 - 7 1307 c.1056A>G c.(1054-1056)caA>caG p.Q352Q IGDCC3_ENST00000559231.1_5'UTR NM_004884.3 NP_004875.2 Q8IVU1 IGDC3_HUMAN immunoglobulin superfamily, DCC subclass, member 3 352 Ig-like C2-type 4. breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 CACCCTGGGCTTGGCAGGTGA 0.602000 24 43 0 0 1 0 0 RFT1 91869 broad.mit.edu 37 3 53153915 53153915 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:53153915A>G ENST00000296292.3 - 6 742 c.681T>C c.(679-681)aaT>aaC p.N227N RFT1_ENST00000394738.3_Silent_p.N188N NM_052859.3 NP_443091.1 Q96AA3 RFT1_HUMAN RFT1 homolog (S. cerevisiae) 227 carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane lipid transporter activity NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2) 12 BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104) TTCTTGTAATATTGGGTAACA 0.348000 5 127 0 0 1 0 0 ADRA2B 151 broad.mit.edu 37 2 96781717 96781717 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:96781717C>T ENST00000409345.3 - 1 267 c.172G>A c.(172-174)Gac>Aac p.D58N NM_000682.5 NP_000673.2 P18089 ADA2B_HUMAN adrenoceptor alpha 2B 58 activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation integral to plasma membrane alpha2-adrenergic receptor activity|epinephrine binding|protein binding endometrium(2)|large_intestine(2)|lung(9)|ovary(3) 16 Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392) ACCAGGATGTCGGCGGCGGCC 0.642000 3 41 0 0 1 0 0 SNIP1 79753 broad.mit.edu 37 1 38019681 38019681 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:38019681A>G ENST00000296215.6 - 1 222 c.150T>C c.(148-150)ggT>ggC p.G50G SNIP1_ENST00000468040.1_Intron NM_024700.3 NP_078976.2 Q8TAD8 SNIP1_HUMAN Smad nuclear interacting protein 1 50 production of miRNAs involved in gene silencing by miRNA nucleus protein binding breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1) 25 Myeloproliferative disorder(586;0.0393) ACGGGCTACCACCGGAGTGGT 0.731000 9 17 0 0 1 0 0 PLXND1 23129 broad.mit.edu 37 3 129303359 129303359 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:129303359A>G ENST00000393239.1 - 6 2076 c.1898T>C c.(1897-1899)aTg>aCg p.M633T PLXND1_ENST00000324093.4_Missense_Mutation_p.M633T Q9Y4D7 PLXD1_HUMAN plexin D1 633 axon guidance integral to membrane|intracellular|plasma membrane PLXND1/TMCC1(4) NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 72 GGCCATCTCCATGCCACTGAG 0.632000 5 127 0 0 1 0 0 ZNF213 7760 broad.mit.edu 37 16 3189024 3189024 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:3189024T>C ENST00000396878.3 + 5 1121 c.646T>C c.(646-648)Tgg>Cgg p.W216R ZNF213_ENST00000416391.2_Missense_Mutation_p.W58R|ZNF213_ENST00000574902.1_Missense_Mutation_p.W216R|ZNF213_ENST00000576416.1_Missense_Mutation_p.W216R NM_001134655.1|NM_004220.2 NP_001128127.1|NP_004211.1 O14771 ZN213_HUMAN zinc finger protein 213 216 KRAB. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1) 16 CCGGGAAGAATGGGGCACCCT 0.622000 25 132 0 0 1 0 0 CACNA1A 773 broad.mit.edu 37 19 13423545 13423545 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:13423545T>C ENST00000360228.5 - 12 1605 c.1606A>G c.(1606-1608)Aaa>Gaa p.K536E CACNA1A_ENST00000573710.2_Missense_Mutation_p.K537E NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 537 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) CCGTACATTTTTATAAACATT 0.443000 21 70 0 0 1 0 0 C16orf3 750 broad.mit.edu 37 16 90095731 90095731 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:90095731G>A ENST00000408886.2 - 1 578 c.20C>T c.(19-21)gCg>gTg p.A7V GAS8_ENST00000268699.4_Intron|GAS8_ENST00000540721.1_Intron|GAS8_ENST00000536122.1_Intron NM_001214.3 NP_001205.3 O95177 CP003_HUMAN chromosome 16 open reading frame 3 7 large_intestine(1)|lung(2)|prostate(1) 4 all_cancers(9;9.01e-08)|Hepatocellular(780;0.000325)|Lung NSC(15;0.0104)|all_lung(18;0.0239) BRCA - Breast invasive adenocarcinoma(80;0.0272) ctcctgccccgcagcagagga 0.557000 30 79 0 0 1 0 0 NPY4R 5540 broad.mit.edu 37 10 47087638 47087638 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:47087638C>T ENST00000374312.1 + 3 1274 c.855C>T c.(853-855)aaC>aaT p.N285N NPY4R_ENST00000395716.1_Silent_p.N285N NM_005972.4 NP_005963.3 neuropeptide Y receptor Y4 ATGTGTTCAACAGCCTGGAAG 0.582000 15 67 0 0 1 0 0 PIK3C2B 5287 broad.mit.edu 37 1 204412676 204412676 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:204412676A>G ENST00000367187.3 - 20 3473 c.2917T>C c.(2917-2919)Tat>Cat p.Y973H PIK3C2B_ENST00000424712.2_Missense_Mutation_p.Y945H NM_002646.3 NP_002637.3 O00750 P3C2B_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta 973 cell communication|phosphatidylinositol-mediated signaling endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 52 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) GCCAGCAGATACTGGTAGCGG 0.572000 55 198 0 0 1 0 0 LSM10 84967 broad.mit.edu 37 1 36859552 36859552 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:36859552G>A ENST00000315732.2 - 2 328 c.179C>T c.(178-180)aCg>aTg p.T60M LSM10_ENST00000476041.1_5'UTR NM_032881.1 NP_116270.1 Q969L4 LSM10_HUMAN LSM10, U7 small nuclear RNA associated 60 histone mRNA metabolic process|mRNA processing|RNA splicing|S phase of mitotic cell cycle|termination of RNA polymerase II transcription Cajal body|U7 snRNP histone pre-mRNA DCP binding|protein binding upper_aerodigestive_tract(1)|urinary_tract(1) 2 Myeloproliferative disorder(586;0.0393) CCAACGGTCCGTGTAGGTGAC 0.577000 21 85 0 0 1 0 0 ASB2 51676 broad.mit.edu 37 14 94404137 94404137 + Missense_Mutation SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:94404137G>T ENST00000555019.1 - 9 2108 c.1678C>A c.(1678-1680)Ctc>Atc p.L560I ASB2_ENST00000315988.4_Missense_Mutation_p.L512I NM_001202429.1 NP_001189358.1 Q96Q27 ASB2_HUMAN ankyrin repeat and SOCS box containing 2 512 SOCS box. intracellular signal transduction breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1) 27 all_cancers(154;0.13) COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232) TAGTCCAGGAGGACATCGATG 0.582000 7 67 8.12818e-05 8.26188e-05 1 1 0 POM121 9883 broad.mit.edu 37 7 72413274 72413274 + Silent SNP C C T rs148530018 byFrequency TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:72413274C>T ENST00000395270.1 + 14 2988 c.1947C>T c.(1945-1947)agC>agT p.S649S POM121_ENST00000358357.3_Silent_p.S649S|POM121_ENST00000434423.2_Silent_p.S914S|POM121_ENST00000446813.1_Silent_p.S649S|POM121_ENST00000257622.4_Silent_p.S649S NM_001257190.1 NP_001244119.1 Q96HA1 P121A_HUMAN POM121 transmembrane nucleoporin 914 Pore side (Potential). carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Lung NSC(55;0.163) CCAGCAGCAGCGCTGCCGACT 0.627000 49 151 0 0 1 0 0 TMEM66 51669 broad.mit.edu 37 8 29931572 29931572 + Splice_Site SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:29931572C>T ENST00000256255.6 - 2 361 c.e2-1 TMEM66_ENST00000536273.1_Intron|TMEM66_ENST00000545648.1_Splice_Site|TMEM66_ENST00000521083.1_Splice_Site NM_016127.4 NP_057211.4 Q96BY9 TMM66_HUMAN transmembrane protein 66 integral to membrane endometrium(2)|large_intestine(1)|lung(11) 14 KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119) AACATTCTGTCTGAAACAGCA 0.463000 9 120 0 0 1 0 0 ABCA13 154664 broad.mit.edu 37 7 48314867 48314867 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:48314867T>C ENST00000435803.1 + 17 5628 c.5604T>C c.(5602-5604)ggT>ggC p.G1868G NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 1868 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 CTCCCCAAGGTGAAGATTCAC 0.418000 15 50 0 0 1 0 0 ALS2CL 259173 broad.mit.edu 37 3 46719881 46719881 + Splice_Site SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:46719881T>C ENST00000318962.4 - 16 1710 c.e16-2 ALS2CL_ENST00000415953.1_Splice_Site NM_147129.3 NP_667340.2 Q60I27 AL2CL_HUMAN ALS2 C-terminal like endosome organization|regulation of Rho protein signal transduction GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2) 29 BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202) GACCTTGCCCTGGGAGCCAGG 0.612000 23 50 0 0 1 0 0 FAM20B 9917 broad.mit.edu 37 1 179033563 179033563 + Silent SNP C C G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:179033563C>G ENST00000263733.4 + 6 1206 c.870C>G c.(868-870)cgC>cgG p.R290R NM_014864.3 NP_055679.1 O75063 XYLK_HUMAN family with sequence similarity 20, member B 290 Golgi membrane|integral to membrane ATP binding|kinase activity|phosphotransferase activity, alcohol group as acceptor breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3) 14 ATGCTGACCGCCATCACTATG 0.493000 20 66 0 0 1 0 0 FRMD4A 55691 broad.mit.edu 37 10 13698938 13698938 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:13698938C>T ENST00000357447.2 - 22 3019 c.2651G>A c.(2650-2652)cGc>cAc p.R884H FRMD4A_ENST00000378503.1_Missense_Mutation_p.R884H|FRMD4A_ENST00000358621.4_Missense_Mutation_p.R869H NM_018027.3 NP_060497.3 Q9P2Q2 FRM4A_HUMAN FERM domain containing 4A 884 cytoplasm|cytoskeleton binding breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 41 GCCGCCGCCGCGCCAGCTCTC 0.711000 4 18 0 0 1 0 0 SNAP25 6616 broad.mit.edu 37 20 10280057 10280057 + Missense_Mutation SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:10280057G>T ENST00000254976.2 + 7 760 c.549G>T c.(547-549)gaG>gaT p.E183D SNAP25-AS1_ENST00000421143.2_RNA|SNAP25-AS1_ENST00000453544.1_RNA|SNAP25_ENST00000304886.2_Missense_Mutation_p.E183D|SNAP25_ENST00000495883.1_3'UTR NM_130811.2 NP_570824.1 P60880 SNP25_HUMAN synaptosomal-associated protein, 25kDa 183 t-SNARE coiled-coil homology 2. energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 18 Botulinum Toxin Type A(DB00083) GGATCATGGAGAAGGTGAGCA 0.522000 5 53 0.000602214 0.000609374 1 1 0 CBLN4 140689 broad.mit.edu 37 20 54579152 54579152 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:54579152A>G ENST00000064571.2 - 1 1376 c.76T>C c.(76-78)Tgg>Cgg p.W26R NM_080617.4 NP_542184.1 Q9NTU7 CBLN4_HUMAN cerebellin 4 precursor 26 cell junction|extracellular region|synapse endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1) 17 Colorectal(105;0.202) TTCTGTGCCCAGACGGGCAGC 0.721000 3 21 0 0 1 0 0 MAP7D2 256714 broad.mit.edu 37 X 20134903 20134903 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chrX:20134903G>A ENST00000379651.3 - 1 113 c.95C>T c.(94-96)gCg>gTg p.A32V MAP7D2_ENST00000379643.5_Missense_Mutation_p.A32V|MAP7D2_ENST00000443379.3_Missense_Mutation_p.A32V NM_152780.3 NP_689993.2 Q96T17 MA7D2_HUMAN MAP7 domain containing 2 32 A -> P (in a breast cancer sample; somatic mutation). NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 37 GGTCCGCACCGCGCCCGGTTC 0.726000 5 8 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61898753 61898753 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:61898753T>C ENST00000280772.1 - 24 2898 c.2707A>G c.(2707-2709)Atg>Gtg p.M903V ANK3_ENST00000373827.2_Missense_Mutation_p.M897V|ANK3_ENST00000460468.1_Missense_Mutation_p.M67V|ANK3_ENST00000503366.1_Missense_Mutation_p.M904V|ANK3_ENST00000355288.2_Missense_Mutation_p.M37V NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 903 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 CTAAAGCCCATGTAACCCTCT 0.448000 29 110 0 0 1 0 0 TBC1D9B 23061 broad.mit.edu 37 5 179306696 179306696 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:179306696T>C ENST00000356834.3 - 8 1385 c.1348A>G c.(1348-1350)Acc>Gcc p.T450A TBC1D9B_ENST00000355235.3_Missense_Mutation_p.T450A NM_198868.2 NP_942568.2 Q66K14 TBC9B_HUMAN TBC1 domain family, member 9B (with GRAM domain) 450 integral to membrane|intracellular calcium ion binding|Rab GTPase activator activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 28 all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TGGGATGCGGTTGGCGCCTCC 0.667000 34 106 0 0 1 0 0 SMCR8 140775 broad.mit.edu 37 17 18220641 18220641 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:18220641G>A ENST00000406438.3 + 1 2018 c.1538G>A c.(1537-1539)aGc>aAc p.S513N NM_144775.2 NP_658988.2 Q8TEV9 SMCR8_HUMAN Smith-Magenis syndrome chromosome region, candidate 8 513 breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 21 AGGACCATCAGCGAGGACAGT 0.537000 21 145 0 0 1 0 0 DHX16 8449 broad.mit.edu 37 6 30624426 30624426 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:30624426A>G ENST00000376442.3 - 14 2454 c.2259T>C c.(2257-2259)ccT>ccC p.P753P DHX16_ENST00000376437.5_Silent_p.P272P NM_001164239.1|NM_003587.4 NP_001157711.1|NP_003578.2 O60231 DHX16_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 16 753 Helicase C-terminal. mRNA processing|RNA splicing nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity kidney(2)|ovary(2) 4 TCTGGATCTCAGGCACTGTGG 0.597000 20 128 0 0 1 0 0 TBC1D14 57533 broad.mit.edu 37 4 7011633 7011633 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:7011633T>C ENST00000409757.4 + 10 1600 c.1476T>C c.(1474-1476)agT>agC p.S492S TBC1D14_ENST00000451522.2_Silent_p.S212S|TBC1D14_ENST00000410031.1_Silent_p.S264S|TBC1D14_ENST00000446947.2_Silent_p.S139S|TBC1D14_ENST00000448507.1_Silent_p.S492S NM_020773.2 NP_065824.2 Q9P2M4 TBC14_HUMAN TBC1 domain family, member 14 492 Rab-GAP TBC. intracellular Rab GTPase activator activity breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 22 TGTTGCACAGTATTTTGGGCG 0.373000 44 171 0 0 1 0 0 EIF5B 9669 broad.mit.edu 37 2 99977764 99977764 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:99977764T>C ENST00000289371.5 + 4 602 c.400T>C c.(400-402)Tac>Cac p.Y134H NM_015904.3 NP_056988.3 O60841 IF2P_HUMAN eukaryotic translation initiation factor 5B 134 regulation of translational initiation cytosol GTP binding|GTPase activity|protein binding|translation initiation factor activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 AGTGGAAATGTACTCTGGGAG 0.353000 31 82 0 0 1 0 0 SCAF8 22828 broad.mit.edu 37 6 155153834 155153834 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:155153834C>T ENST00000367178.3 + 20 3697 c.3121C>T c.(3121-3123)Cgg>Tgg p.R1041W SCAF8_ENST00000417268.1_Missense_Mutation_p.R1041W|TIAM2_ENST00000461783.3_5'UTR|SCAF8_ENST00000367186.4_Missense_Mutation_p.R1107W NM_014892.3 NP_055707.3 Q9UPN6 SCAF8_HUMAN SR-related CTD-associated factor 8 1041 Pro-rich. mRNA processing|RNA splicing nuclear matrix|spliceosomal complex nucleotide binding|RNA binding|RNA polymerase core enzyme binding breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 46 TGTGGTTGGGCGGCCTATAGA 0.483000 27 71 0 0 1 0 0 CYP8B1 1582 broad.mit.edu 37 3 42916116 42916116 + Missense_Mutation SNP G G A rs141302264 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:42916116G>A ENST00000316161.4 - 1 1517 c.1193C>T c.(1192-1194)cCt>cTt p.P398L CYP8B1_ENST00000437102.1_Missense_Mutation_p.P398L|ACKR2_ENST00000471537.1_Intron|KRBOX1_ENST00000426937.1_Intron NM_004391.2 NP_004382.2 Q9UNU6 CP8B1_HUMAN cytochrome P450, family 8, subfamily B, polypeptide 1 398 bile acid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome 7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity p.P398H(1) NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5) 23 KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249) GGTGGGCTCAGGGTGGATGTC 0.547000 15 232 0 0 1 0 0 SLC22A7 10864 broad.mit.edu 37 6 43267405 43267405 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:43267405A>G ENST00000372585.5 + 4 639 c.544A>G c.(544-546)Acc>Gcc p.T182A SLC22A7_ENST00000487175.1_3'UTR|SLC22A7_ENST00000372589.3_Missense_Mutation_p.T180A|SLC22A7_ENST00000372574.3_Missense_Mutation_p.T180A NM_153320.2 NP_696961.2 Q9Y694 S22A7_HUMAN solute carrier family 22 (organic anion transporter), member 7 182 basolateral plasma membrane|integral to plasma membrane|membrane fraction anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3) 26 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305) CTACGTGAGTACCCTGGTGCT 0.577000 16 263 0 0 1 0 0 NLGN2 57555 broad.mit.edu 37 17 7318086 7318086 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:7318086G>A ENST00000302926.2 + 4 836 c.763G>A c.(763-765)Gac>Aac p.D255N NLGN2_ENST00000575301.1_Missense_Mutation_p.D255N NM_020795.2 NP_065846.1 Q8NFZ4 NLGN2_HUMAN neuroligin 2 255 cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly cell surface|integral to plasma membrane|postsynaptic membrane neurexin binding|receptor activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3) 22 Prostate(122;0.157) CTTTGGGGGCGACCCCGAGCG 0.612000 33 96 0 0 1 0 0 LTBP4 8425 broad.mit.edu 37 19 41119873 41119873 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:41119873A>G ENST00000308370.7 + 21 2810 c.2810A>G c.(2809-2811)aAc>aGc p.N937S LTBP4_ENST00000396819.3_Missense_Mutation_p.N870S|LTBP4_ENST00000204005.9_Missense_Mutation_p.N900S|LTBP4_ENST00000243562.9_Missense_Mutation_p.N35S|LTBP4_ENST00000545697.1_Missense_Mutation_p.N390S|LTBP4_ENST00000602240.1_3'UTR NM_001042544.1 NP_001036009.1 Q8N2S1 LTBP4_HUMAN latent transforming growth factor beta binding protein 4 937 Cys-rich.|EGF-like 11; calcium-binding (Potential). growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity central_nervous_system(1) 1 Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384) ATCTGTACCAACACCGACGGC 0.697000 8 53 0 0 1 0 0 NMUR2 56923 broad.mit.edu 37 5 151784435 151784435 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:151784435G>A ENST00000255262.3 - 1 405 c.240C>T c.(238-240)acC>acT p.T80T NMUR2_ENST00000518933.1_Intron NM_020167.4 NP_064552.3 Q9GZQ4 NMUR2_HUMAN neuromedin U receptor 2 80 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction integral to membrane|plasma membrane GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 44 Medulloblastoma(196;0.091)|all_hematologic(541;0.103) Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672) GGTAGTAGTTGGTGGGCGTCT 0.552000 44 117 0 0 1 0 0 ABCA9 10350 broad.mit.edu 37 17 67029943 67029943 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:67029943T>C ENST00000340001.4 - 9 1411 c.1200A>G c.(1198-1200)atA>atG p.I400M ABCA9_ENST00000453985.2_Missense_Mutation_p.I400M|ABCA9_ENST00000370732.2_Missense_Mutation_p.I400M NM_080283.3 NP_525022.2 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A (ABC1), member 9 400 transport integral to membrane ATP binding|ATPase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 91 Breast(10;1.47e-12) AAAGAGTAGCTATTATGAGGT 0.323000 7 99 0 0 1 0 0 CBWD1 55871 broad.mit.edu 37 9 164038 164038 + Splice_Site SNP C C G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:164038C>G ENST00000377447.3 - 5 486 c.e5-1 CBWD1_ENST00000431099.2_Splice_Site|CBWD1_ENST00000314367.10_Splice_Site|CBWD1_ENST00000382447.4_Splice_Site|CBWD1_ENST00000377400.4_Splice_Site|CBWD1_ENST00000356521.4_Splice_Site Q9BRT8 CBWD1_HUMAN COBW domain containing 1 ATP binding|protein binding p.?(2) kidney(1)|lung(2)|ovary(1)|skin(1) 5 all_lung(41;0.218) all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122) Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157) all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154) GCCACTGCACCTGAAAATATA 0.284000 5 202 0 0 1 0 0 FANCD2 2177 broad.mit.edu 37 3 10081025 10081025 + Missense_Mutation SNP G G C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:10081025G>C ENST00000287647.3 + 8 647 c.554G>C c.(553-555)aGa>aCa p.R185T FANCD2_ENST00000383807.1_Missense_Mutation_p.R185T|FANCD2_ENST00000383806.1_Missense_Mutation_p.R185T|FANCD2_ENST00000438741.1_3'UTR|FANCD2_ENST00000431693.1_Missense_Mutation_p.R185T|FANCD2_ENST00000419585.1_Missense_Mutation_p.R185T NM_033084.3 NP_149075.2 Q9BXW9 FACD2_HUMAN Fanconi anemia, complementation group D2 185 Interaction with FANCE. DNA repair|response to gamma radiation nucleoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 51 OV - Ovarian serous cystadenocarcinoma(96;0.148) TGGCTTGACAGAGTTGTGGAT 0.358000 """D, Mis, N, F""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 6 24 0 0 1 0 0 TPR 7175 broad.mit.edu 37 1 186303547 186303547 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:186303547G>A ENST00000367478.3 - 36 5388 c.5092C>T c.(5092-5094)Cgc>Tgc p.R1698C NM_003292.2 NP_003283.2 P12270 TPR_HUMAN translocated promoter region, nuclear basket protein 1698 carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity p.R1699C(1) autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8) 123 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) ACCATTGGGCGGATACTAGCC 0.468000 T NTRK1 papillary thyroid 29 67 0 0 1 0 0 PPP1R2 5504 broad.mit.edu 37 3 195269829 195269829 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:195269829G>A ENST00000328432.3 - 1 380 c.20C>T c.(19-21)tCg>tTg p.S7L NM_006241.4 NP_006232.1 P41236 IPP2_HUMAN protein phosphatase 1, regulatory (inhibitor) subunit 2 7 glycogen metabolic process|regulation of phosphoprotein phosphatase activity|regulation of signal transduction protein binding|protein serine/threonine phosphatase inhibitor activity endometrium(2)|kidney(1)|large_intestine(1)|urinary_tract(2) 6 all_cancers(143;1.8e-08)|Ovarian(172;0.0634) Epithelial(36;2.64e-22)|all cancers(36;2.69e-20)|OV - Ovarian serous cystadenocarcinoma(49;3.52e-19)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128) GBM - Glioblastoma multiforme(46;9.55e-05) GGGCCGGTGCGAGGCCGTCGA 0.662000 4 11 0 0 1 0 0 LONRF1 91694 broad.mit.edu 37 8 12595579 12595579 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:12595579A>G ENST00000398246.3 - 4 1107 c.1038T>C c.(1036-1038)tgT>tgC p.C346C LONRF1_ENST00000530693.1_5'UTR|LONRF1_ENST00000533751.1_5'UTR NM_152271.3 NP_689484.3 Q17RB8 LONF1_HUMAN LON peptidase N-terminal domain and ring finger 1 346 proteolysis ATP-dependent peptidase activity|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2) 19 READ - Rectum adenocarcinoma(644;0.236) TGTTTTTAGTACATGGTAATG 0.358000 18 78 0 0 1 0 0 PXMP2 5827 broad.mit.edu 37 12 133277861 133277861 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:133277861C>T ENST00000317479.3 + 4 490 c.425C>T c.(424-426)gCc>gTc p.A142V PXMP2_ENST00000543589.1_Intron|RP13-672B3.2_ENST00000537262.1_Silent_p.R13R|PXMP2_ENST00000428960.2_Missense_Mutation_p.A49V|PXMP2_ENST00000545677.1_Silent_p.R13R|PXMP2_ENST00000539093.1_Silent_p.R13R NM_018663.1 NP_061133.1 Q9NR77 PXMP2_HUMAN peroxisomal membrane protein 2, 22kDa 142 integral to membrane|peroxisomal membrane protein binding large_intestine(1)|liver(2)|lung(1) 4 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06) GCCTTCGCCGCCAAGATGAGG 0.597000 7 249 0 0 1 0 0 ASB8 140461 broad.mit.edu 37 12 48543375 48543375 + Missense_Mutation SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:48543375G>T ENST00000317697.3 - 4 810 c.641C>A c.(640-642)gCt>gAt p.A214D ASB8_ENST00000536953.1_3'UTR|ASB8_ENST00000537754.1_5'UTR|ASB8_ENST00000536549.1_Missense_Mutation_p.A214D NM_024095.3 NP_077000.1 Q9H765 ASB8_HUMAN ankyrin repeat and SOCS box containing 8 214 intracellular signal transduction cytoplasm|nucleus breast(1)|kidney(2)|large_intestine(2)|lung(5)|soft_tissue(1) 11 GTGTCCAACAGCTCTGTGGAG 0.527000 31 118 1.39806e-14 1.46325e-14 1 1 0 ZBTB49 166793 broad.mit.edu 37 4 4304616 4304616 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:4304616A>G ENST00000337872.4 + 3 1174 c.1053A>G c.(1051-1053)caA>caG p.Q351Q ZBTB49_ENST00000538529.1_5'UTR|ZBTB49_ENST00000355834.3_Silent_p.Q351Q NM_145291.3 NP_660334.3 Q6ZSB9 ZBT49_HUMAN zinc finger and BTB domain containing 49 351 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 28 CTAGCAGCCAAAGTGCTGAAG 0.443000 22 60 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151880197 151880197 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:151880197T>C ENST00000355193.2 - 35 5345 c.5127A>G c.(5125-5127)gtA>gtG p.V1709V KMT2C_ENST00000262189.6_Silent_p.V1709V lysine (K)-specific methyltransferase 2C TTGACATCTGTACTTTATTAA 0.343000 34 378 0 0 1 0 0 KIF21B 23046 broad.mit.edu 37 1 200944736 200944736 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:200944736G>A ENST00000332129.2 - 32 4782 c.4466C>T c.(4465-4467)cCg>cTg p.P1489L KIF21B_ENST00000461742.2_Missense_Mutation_p.P1502L|KIF21B_ENST00000360529.5_Missense_Mutation_p.P1489L|KIF21B_ENST00000422435.2_Missense_Mutation_p.P1502L NM_001252102.1|NM_001252103.1|NM_017596.3 NP_001239031.1|NP_001239032.1|NP_060066.2 O75037 KI21B_HUMAN kinesin family member 21B 1502 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity p.P1489L(1) autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 ATCGTAGTGCGGGGGCTCGAA 0.612000 13 49 0 0 1 0 0 MGAT5B 146664 broad.mit.edu 37 17 74878310 74878310 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:74878310G>A ENST00000569840.2 + 3 833 c.259G>A c.(259-261)Gca>Aca p.A87T MGAT5B_ENST00000565675.1_Missense_Mutation_p.A87T|MGAT5B_ENST00000301618.4_Missense_Mutation_p.A87T|MGAT5B_ENST00000428789.2_Missense_Mutation_p.A98T|MGAT5B_ENST00000374998.3_3'UTR NM_001199172.1 NP_001186101.1 Q3V5L5 MGT5B_HUMAN mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B 87 Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 GCGCATGGACGCACTGGCCAG 0.677000 21 41 0 0 1 0 0 PHYKPL 85007 broad.mit.edu 37 5 177658445 177658445 + Missense_Mutation SNP C C A rs149132993 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:177658445C>A ENST00000308158.5 - 2 373 c.139G>T c.(139-141)Ggg>Tgg p.G47W PHYKPL_ENST00000476170.2_Missense_Mutation_p.G47W NM_153373.2 NP_699204.1 5-phosphohydroxy-L-lysine phospho-lyase TATTCTGCCCCCTGTTCATCG 0.557000 34 154 1.90571e-15 1.99736e-15 1 1 0 NOMO1 23420 broad.mit.edu 37 16 14989418 14989418 + Silent SNP C C T rs142020293 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:14989418C>T ENST00000287667.7 + 31 3756 c.3585C>T c.(3583-3585)cgC>cgT p.R1195R NM_014287.3 NP_055102.3 Q15155 NOMO1_HUMAN NODAL modulator 1 1195 R -> G. integral to membrane carbohydrate binding|carboxypeptidase activity|protein binding endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2) 30 AGGGAGTCCGCGCGCTCGGCC 0.547000 117 737 0 0 1 0 0 PCNX 22990 broad.mit.edu 37 14 71492878 71492878 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:71492878C>T ENST00000304743.2 + 14 3674 c.3228C>T c.(3226-3228)tgC>tgT p.C1076C PCNX_ENST00000238570.5_Silent_p.C1076C|PCNX_ENST00000439984.3_Silent_p.C965C NM_014982.2 NP_055797.2 Q96RV3 PCX1_HUMAN pecanex homolog (Drosophila) 1076 integral to membrane NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1) 87 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) TTTATTTCTGCATATGTTGCG 0.348000 5 105 0 0 1 0 0 SUSD2 56241 broad.mit.edu 37 22 24580231 24580231 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr22:24580231G>A ENST00000358321.3 + 4 828 c.567G>A c.(565-567)acG>acA p.T189T NM_019601.3 NP_062547.1 Q9UGT4 SUSD2_HUMAN sushi domain containing 2 189 immune response integral to membrane polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 26 CGCTGCCCACGCAGACCATCA 0.612000 26 70 0 0 1 0 0 SSTR3 6753 broad.mit.edu 37 22 37603244 37603244 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr22:37603244G>A ENST00000328544.3 - 2 1132 c.599C>T c.(598-600)gCg>gTg p.A200V SSTR3_ENST00000402501.1_Missense_Mutation_p.A200V NM_001051.3 NP_001042.1 P32745 SSR3_HUMAN somatostatin receptor 3 200 G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation integral to plasma membrane|nonmotile primary cilium somatostatin receptor activity NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1) 14 TCGCCAGGCCGCCGCCGGCTC 0.682000 12 37 0 0 1 0 0 PRKAA2 5563 broad.mit.edu 37 1 57161834 57161834 + Splice_Site SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:57161834T>C ENST00000371244.4 + 6 854 c.e6+2 NM_006252.3 NP_006243.2 P54646 AAPK2_HUMAN protein kinase, AMP-activated, alpha 2 catalytic subunit carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleoplasm ATP binding|metal ion binding breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1) 23 AGACATAAGGTGATTTTTCTT 0.383000 5 150 0 0 1 0 0 GALNT10 55568 broad.mit.edu 37 5 153795360 153795360 + Missense_Mutation SNP G G C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:153795360G>C ENST00000297107.6 + 11 1658 c.1521G>C c.(1519-1521)tgG>tgC p.W507C SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000377657.3_Missense_Mutation_p.W180C|GALNT10_ENST00000377661.2_Missense_Mutation_p.W445C|SAP30L-AS1_ENST00000524264.1_RNA NM_198321.3 NP_938080.1 Q86SR1 GLT10_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10) 507 Ricin B-type lectin. Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 32 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21) Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577) CCTTCACCTGGAGAGAGGACA 0.473000 49 158 0 0 1 0 0 EVPL 2125 broad.mit.edu 37 17 74005594 74005594 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:74005594A>G ENST00000301607.3 - 22 3945 c.3692T>C c.(3691-3693)gTg>gCg p.V1231A EVPL_ENST00000586740.1_Missense_Mutation_p.V1253A NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 1231 Central fibrous rod domain. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 CAGCTTCTCCACCTCCTTCTC 0.637000 41 110 0 0 1 0 0 ABCA1 19 broad.mit.edu 37 9 107583768 107583768 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:107583768A>G ENST00000374736.3 - 20 3242 c.2848T>C c.(2848-2850)Ttc>Ctc p.F950L NM_005502.3 NP_005493.2 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A (ABC1), member 1 950 ABC transporter 1. Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 115 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) GTCGGGGGGAACAACCCGGTC 0.532000 6 53 0 0 1 0 0 GPR137B 7107 broad.mit.edu 37 1 236306300 236306300 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:236306300T>C ENST00000366592.3 + 1 469 c.378T>C c.(376-378)ttT>ttC p.F126F GPR137B_ENST00000366591.4_Silent_p.F126F NM_003272.3 NP_003263.1 O60478 G137B_HUMAN G protein-coupled receptor 137B 126 integral to plasma membrane|membrane fraction endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 Ovarian(103;0.0634)|Breast(184;0.247) all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226) OV - Ovarian serous cystadenocarcinoma(106;0.00162) GCCTGCAGTTTTTCACCCTCA 0.602000 7 177 0 0 1 0 0 NOL11 25926 broad.mit.edu 37 17 65714141 65714141 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:65714141G>A ENST00000253247.4 + 1 193 c.78G>A c.(76-78)gaG>gaA p.E26E NOL11_ENST00000535137.1_5'UTR|NOL11_ENST00000581966.1_3'UTR NM_015462.3 NP_056277.2 Q9H8H0 NOL11_HUMAN nucleolar protein 11 26 nucleolus haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1) 11 all_cancers(12;1.54e-10) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24) TAGGCGTGGAGCAGAGCGACA 0.552000 OREG0024682 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 87 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55542033 55542033 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:55542033G>A ENST00000220676.1 + 4 5739 c.5591G>A c.(5590-5592)tGc>tAc p.C1864Y NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 1864 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) GAAAGAGTATGCACATCTGTC 0.413000 9 66 0 0 1 0 0 ABHD16B 140701 broad.mit.edu 37 20 62493544 62493544 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:62493544G>A ENST00000369916.3 + 1 979 c.651G>A c.(649-651)caG>caA p.Q217Q NM_080622.3 NP_542189.1 Q9H3Z7 ABHGB_HUMAN abhydrolase domain containing 16B 217 hydrolase activity endometrium(2)|kidney(1)|lung(3) 6 CCTTCCCTCAGCACGACGCCA 0.682000 6 31 0 0 1 0 0 ZNF41 7592 broad.mit.edu 37 X 47308126 47308126 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chrX:47308126A>G ENST00000377065.4 - 5 1682 c.1043T>C c.(1042-1044)aTt>aCt p.I348T ZNF41_ENST00000313116.7_Missense_Mutation_p.I348T|ZNF41_ENST00000397050.2_Missense_Mutation_p.I358T NM_153380.2 NP_700359.1 P51814 ZNF41_HUMAN zinc finger protein 41 390 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2) 24 all_lung(315;0.000129) CCCGGTATGAATTTTTTGATG 0.383000 14 34 0 0 1 0 0 AVPR1B 553 broad.mit.edu 37 1 206230826 206230826 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:206230826T>C ENST00000367126.4 + 2 1424 c.959T>C c.(958-960)tTc>tCc p.F320S NM_000707.3 NP_000698.1 P47901 V1BR_HUMAN arginine vasopressin receptor 1B 320 activation of phospholipase C activity|elevation of cytosolic calcium ion concentration endosome|integral to plasma membrane protein kinase C binding|vasopressin receptor activity p.F320Y(1) breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2) 20 BRCA - Breast invasive adenocarcinoma(75;0.0312) Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067) AATGTGGCTTTCACCATCTCT 0.557000 13 37 0 0 1 0 0 KCTD1 284252 broad.mit.edu 37 18 24035851 24035851 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr18:24035851C>T ENST00000417602.1 - 5 2453 c.2454G>A c.(2452-2454)ttG>ttA p.L818L KCTD1_ENST00000408011.3_Silent_p.L210L|KCTD1_ENST00000579973.1_Silent_p.L210L|KCTD1_ENST00000580059.1_Silent_p.L210L|KCTD1_ENST00000317932.7_Silent_p.L210L NM_001142730.2 NP_001136202.1 Q719H9 KCTD1_HUMAN potassium channel tetramerization domain containing 1 210 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|voltage-gated potassium channel complex transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity p.L210L(1)|p.L818L(1) endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3) 12 all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848) Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05) CTCTTTGCTGCAACCTCTCGA 0.547000 21 47 0 0 1 0 0 TBC1D24 57465 broad.mit.edu 37 16 2546979 2546979 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:2546979C>T ENST00000567020.1 + 2 970 c.830C>T c.(829-831)gCg>gTg p.A277V TBC1D24_ENST00000434757.2_Missense_Mutation_p.A277V|TBC1D24_ENST00000293970.5_Missense_Mutation_p.A277V|RP11-20I23.1_ENST00000564543.1_Missense_Mutation_p.A277V NM_020705.2 NP_065756.1 Q9ULP9 TBC24_HUMAN TBC1 domain family, member 24 277 neuron projection development cytoplasm protein binding|Rab GTPase activator activity endometrium(2)|kidney(4)|large_intestine(3)|lung(4) 13 AGAGACATCGCGAAGACGGTG 0.612000 36 102 0 0 1 0 0 TMPRSS12 283471 broad.mit.edu 37 12 51237699 51237699 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:51237699G>A ENST00000551456.1 + 2 307 c.262G>A c.(262-264)Gca>Aca p.A88T TMPRSS12_ENST00000398458.3_Missense_Mutation_p.A88T Q86WS5 TMPSC_HUMAN transmembrane (C-terminal) protease, serine 12 88 Peptidase S1. proteolysis integral to membrane serine-type endopeptidase activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 18 ACAAGCTGGCGCATGGCCGTG 0.488000 9 15 0 0 1 0 0 PCDHA6 56142 broad.mit.edu 37 5 140208740 140208740 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:140208740T>C ENST00000529310.1 + 1 1178 c.1064T>C c.(1063-1065)tTa>tCa p.L355S PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.L355S|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron NM_018909.2|NM_031848.1|NM_031849.1 NP_061732.1|NP_114036.1|NP_114037.1 NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGACTTCCTTATCCTTGCCT 0.502000 47 144 0 0 1 0 0 RBM6 10180 broad.mit.edu 37 3 50095330 50095330 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:50095330A>G ENST00000443081.1 + 9 2386 c.1467A>G c.(1465-1467)gaA>gaG p.E489E RBM6_ENST00000266022.4_Silent_p.E621E|RBM6_ENST00000539992.1_5'UTR|RBM6_ENST00000442092.1_Silent_p.E99E|RBM6_ENST00000441115.1_3'UTR|RBM6_ENST00000422955.1_Silent_p.E99E P78332 RBM6_HUMAN RNA binding motif protein 6 621 RRM. RNA processing nucleus DNA binding|nucleotide binding|RNA binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977) AAAAGAGAGAAGCAGAAAGGT 0.527000 6 67 0 0 1 0 0 ELL3 80237 broad.mit.edu 37 15 44067752 44067752 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:44067752T>C ENST00000319359.3 - 5 1181 c.540A>G c.(538-540)tcA>tcG p.S180S RP11-296A16.1_ENST00000417761.2_3'UTR NM_025165.2 NP_079441.1 Q9HB65 ELL3_HUMAN elongation factor RNA polymerase II-like 3 180 positive regulation of transcription elongation, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription elongation from RNA polymerase II promoter transcription elongation factor complex cervix(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1) 13 all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;7.81e-07) TGTGCTCCCTTGAGGATCCTG 0.522000 OREG0023092 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 52 0 0 1 0 0 ONECUT2 9480 broad.mit.edu 37 18 55103988 55103988 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr18:55103988A>G ENST00000491143.2 + 1 1072 c.1040A>G c.(1039-1041)aAg>aGg p.K347R NM_004852.2 NP_004843.2 O95948 ONEC2_HUMAN one cut homeobox 2 347 organ morphogenesis nucleus sequence-specific DNA binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1) 15 Colorectal(73;0.234) READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245) GCGGAGCTGAAGCGCTACAGT 0.622000 11 35 0 0 1 0 0 TMEM132D 121256 broad.mit.edu 37 12 129559268 129559268 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:129559268T>C ENST00000422113.2 - 9 2778 c.2452A>G c.(2452-2454)Atg>Gtg p.M818V TMEM132D_ENST00000389441.4_Missense_Mutation_p.M356V NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 818 integral to membrane NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) TTGTTTTCCATGTGAACCCCT 0.488000 20 97 0 0 1 0 0 FBXO34 55030 broad.mit.edu 37 14 55818975 55818975 + Nonsense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:55818975C>T ENST00000313833.4 + 2 2112 c.1867C>T c.(1867-1869)Cga>Tga p.R623* FBXO34_ENST00000440021.1_Nonsense_Mutation_p.R623* NM_017943.3 NP_060413.2 Q9NWN3 FBX34_HUMAN F-box protein 34 623 F-box. breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3) 22 TCGCTGGGTTCGAGATCCACG 0.473000 35 60 0 0 1 0 0 GORAB 92344 broad.mit.edu 37 1 170513868 170513868 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:170513868A>G ENST00000367763.3 + 4 639 c.619A>G c.(619-621)Acc>Gcc p.T207A GORAB_ENST00000367762.1_Missense_Mutation_p.T207A NM_152281.2 NP_689494.2 Q5T7V8 GORAB_HUMAN golgin, RAB6-interacting 207 Golgi apparatus|nucleus endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 17 TCAGGCAGAGACCATGAAACT 0.413000 36 129 0 0 1 0 0 FBXO21 23014 broad.mit.edu 37 12 117612582 117612582 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:117612582A>G ENST00000427718.2 - 5 687 c.613T>C c.(613-615)Tac>Cac p.Y205H FBXO21_ENST00000330622.5_Missense_Mutation_p.Y205H|FBXO21_ENST00000549689.1_5'UTR NM_015002.2|NM_033624.2 NP_055817.1|NP_296373.1 O94952 FBX21_HUMAN F-box protein 21 205 ubiquitin-dependent protein catabolic process ubiquitin ligase complex ubiquitin-protein ligase activity breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 29 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0291) GGATTGCAGTACTGGTCAATA 0.428000 44 114 0 0 1 0 0 CAGE1 285782 broad.mit.edu 37 6 7373421 7373421 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:7373421T>C ENST00000502583.1 - 5 2195 c.1631A>G c.(1630-1632)aAt>aGt p.N544S CAGE1_ENST00000338150.4_Missense_Mutation_p.N544S|CAGE1_ENST00000512086.1_Missense_Mutation_p.N544S|CAGE1_ENST00000379918.4_Missense_Mutation_p.N544S|CAGE1_ENST00000296742.7_Missense_Mutation_p.N408S NM_001170692.1 NP_001164163.1 Q8TC20 CAGE1_HUMAN cancer antigen 1 544 breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1) 19 Ovarian(93;0.0418) AAGTTTTGCATTCTCATTTTT 0.333000 11 33 0 0 1 0 0 CHRND 1144 broad.mit.edu 37 2 233392981 233392981 + Missense_Mutation SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:233392981G>T ENST00000258385.3 + 4 285 c.253G>T c.(253-255)Gac>Tac p.D85Y CHRND_ENST00000536614.1_Missense_Mutation_p.D85Y|CHRND_ENST00000457943.2_5'UTR|CHRND_ENST00000543200.1_Missense_Mutation_p.D70Y NM_000751.2 NP_000742.1 Q07001 ACHD_HUMAN cholinergic receptor, nicotinic, delta (muscle) 85 muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1) 34 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754) GGGCTGGACAGACAACCGGCT 0.572000 12 58 1.08611e-07 1.11655e-07 1 1 0 POLR2A 5430 broad.mit.edu 37 17 7412422 7412422 + Missense_Mutation SNP C C T rs140375256 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:7412422C>T ENST00000322644.6 + 21 4024 c.3625C>T c.(3625-3627)Ccc>Tcc p.P1209S NM_000937.4 NP_000928.1 P24928 RPB1_HUMAN polymerase (RNA) II (DNA directed) polypeptide A, 220kDa 1209 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 50 Prostate(122;0.173) CCGAATCTCCCCCTGGCTGTT 0.542000 17 60 0 0 1 0 0 EHD3 30845 broad.mit.edu 37 2 31489200 31489200 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:31489200C>T ENST00000322054.5 + 6 1523 c.1238C>T c.(1237-1239)gCg>gTg p.A413V EHD3_ENST00000541626.1_3'UTR NM_014600.2 NP_055415.1 Q9NZN3 EHD3_HUMAN EH-domain containing 3 413 blood coagulation|endocytic recycling|protein homooligomerization nucleus|plasma membrane|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3) 33 Acute lymphoblastic leukemia(172;0.155) AAGGGCGGAGCGTTCGAGGGC 0.637000 16 45 0 0 1 0 0 PCDHB8 56128 broad.mit.edu 37 5 140559068 140559068 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:140559068G>A ENST00000239444.2 + 1 1698 c.1453G>A c.(1453-1455)Gcc>Acc p.A485T NM_019120.3 NP_061993.2 Q9UN66 PCDB8_HUMAN 485 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGGCACCAACGCCCAGGTCAC 0.652000 81 1744 0 0 1 0 0 CEACAM18 729767 broad.mit.edu 37 19 51983803 51983803 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:51983803G>A ENST00000396477.4 + 2 290 c.269G>A c.(268-270)gGc>gAc p.G90D CEACAM18_ENST00000451626.1_Missense_Mutation_p.G151D NM_001278392.1 NP_001265321.1 A8MTB9 CEA18_HUMAN carcinoembryonic antigen-related cell adhesion molecule 18 151 integral to membrane breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1) 17 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) ATGTACACTGGCAGGGAGAGA 0.552000 24 72 0 0 1 0 0 UAP1L1 91373 broad.mit.edu 37 9 139972841 139972841 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:139972841C>T ENST00000360271.3 + 1 249 c.13C>T c.(13-15)Ccc>Tcc p.P5S UAP1L1_ENST00000476184.1_Intron|UAP1L1_ENST00000409858.3_Intron Q3KQV9 UAP1L_HUMAN UDP-N-acteylglucosamine pyrophosphorylase 1-like 1 0 nucleotidyltransferase activity kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 8 all_cancers(76;0.0926) Myeloproliferative disorder(178;0.0821) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486) GGGGCCTGGCCCCAGCCCCAA 0.726000 3 31 0 0 1 0 0 ABCG8 64241 broad.mit.edu 37 2 44073331 44073331 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:44073331T>C ENST00000272286.2 + 3 293 c.203T>C c.(202-204)cTg>cCg p.L68P NM_022437.2 NP_071882.1 Q9H221 ABCG8_HUMAN ATP-binding cassette, sub-family G (WHITE), member 8 68 ABC transporter. cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 45 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) TTTGAGCAGCTGGCTCAGTTC 0.532000 33 82 0 0 1 0 0 TNIK 23043 broad.mit.edu 37 3 170802065 170802065 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:170802065T>C ENST00000436636.2 - 26 3392 c.3048A>G c.(3046-3048)gaA>gaG p.E1016E TNIK_ENST00000538048.1_Silent_p.E968E|TNIK_ENST00000341852.6_Silent_p.E932E|TNIK_ENST00000470834.1_Silent_p.E979E|TNIK_ENST00000369326.5_Silent_p.E994E|TNIK_ENST00000460047.1_Silent_p.E953E|TNIK_ENST00000488470.1_Silent_p.E961E|TNIK_ENST00000357327.5_Silent_p.E987E|TNIK_ENST00000284483.8_Silent_p.E1008E|TNIK_ENST00000475336.1_Silent_p.E924E NM_015028.2 NP_055843.1 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase 1016 Mediates interaction with NEDD4. actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2) 62 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) TCTTTCTTGCTTCATTGAGTT 0.378000 40 99 0 0 1 0 0 CNGA3 1261 broad.mit.edu 37 2 99013682 99013682 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:99013682C>T ENST00000393504.1 + 8 2466 c.2049C>T c.(2047-2049)ccC>ccT p.P683P CNGA3_ENST00000272602.2_Silent_p.P683P|CNGA3_ENST00000409937.1_Silent_p.P687P|CNGA3_ENST00000436404.2_Silent_p.P665P NM_001298.2 NP_001289.1 Q16281 CNGA3_HUMAN cyclic nucleotide gated channel alpha 3 683 signal transduction|visual perception integral to membrane cGMP binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3) 49 GGGAAGTTCCCGGGGATGCTA 0.557000 19 46 0 0 1 0 0 ITGB8 3696 broad.mit.edu 37 7 20441436 20441436 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:20441436C>T ENST00000222573.3 + 10 2058 c.1374C>T c.(1372-1374)acC>acT p.T458T ITGB8_ENST00000537992.1_Silent_p.T323T NM_002214.2 NP_002205.1 P26012 ITB8_HUMAN integrin, beta 8 458 cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development integrin complex protein binding|receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1) 37 TTAATGAAACCGCTAAAATTC 0.338000 22 101 0 0 1 0 0 ADRA2C 152 broad.mit.edu 37 4 3768770 3768770 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:3768770G>A ENST00000330055.5 + 1 646 c.437G>A c.(436-438)aGc>aAc p.S146N ADRA2C_ENST00000509482.1_Missense_Mutation_p.S146N NM_000683.3 NP_000674.2 P18825 ADA2C_HUMAN adrenoceptor alpha 2C 146 activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion endosome|integral to plasma membrane alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity endometrium(2)|kidney(1)|large_intestine(1)|lung(4) 8 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392) TGTGCCATCAGCCTGGACCGC 0.627000 5 62 0 0 1 0 0 ERBB3 2065 broad.mit.edu 37 12 56480409 56480409 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:56480409T>C ENST00000267101.3 + 4 956 c.516T>C c.(514-516)gcT>gcC p.A172A ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Silent_p.A113A NM_001982.3 NP_001973.2 P21860 ERBB3_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3 172 cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) ACCGAGATGCTGAGATAGTGG 0.493000 5 198 0 0 1 0 0 SIRT4 23409 broad.mit.edu 37 12 120750423 120750423 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:120750423T>C ENST00000202967.4 + 3 721 c.662T>C c.(661-663)gTt>gCt p.V221A SIRT4_ENST00000537892.1_3'UTR NM_012240.2 NP_036372.1 Q9Y6E7 SIRT4_HUMAN sirtuin 4 221 Deacetylase sirtuin-type. chromatin silencing|negative regulation of insulin secretion|protein ADP-ribosylation|protein deacetylation mitochondrial matrix hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3) 9 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CCAACCTGCGTTCAATGTGGA 0.542000 7 84 0 0 1 0 0 CD200R1 131450 broad.mit.edu 37 3 112648055 112648055 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:112648055A>G ENST00000471858.1 - 3 665 c.433T>C c.(433-435)Tat>Cat p.Y145H CD200R1_ENST00000490004.1_Missense_Mutation_p.Y145H|CD200R1_ENST00000295863.4_Missense_Mutation_p.Y123H|CD200R1_ENST00000308611.3_Missense_Mutation_p.Y168H|CD200R1_ENST00000440122.2_Missense_Mutation_p.Y168H NM_170780.2 NP_740750.1 Q8TD46 MO2R1_HUMAN CD200 receptor 1 145 Ig-like C2-type. interspecies interaction between organisms|regulation of immune response extracellular region|integral to membrane|plasma membrane receptor activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 26 TGGAGGTGATATCCACGATGG 0.418000 41 100 0 0 1 0 0 TRIM72 493829 broad.mit.edu 37 16 31235598 31235598 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:31235598C>T ENST00000322122.3 + 7 1240 c.956C>T c.(955-957)cCg>cTg p.P319L NM_001008274.3 NP_001008275.2 Q6ZMU5 TRI72_HUMAN tripartite motif containing 72 319 B30.2/SPRY. exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization cytoplasmic vesicle membrane|sarcolemma phosphatidylserine binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(2)|lung(9)|skin(1) 15 CAGAAGGCGCCGCCGGCCGGG 0.706000 7 31 0 0 1 0 0 INSRR 3645 broad.mit.edu 37 1 156815812 156815812 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:156815812T>C ENST00000368195.3 - 9 2306 c.1910A>G c.(1909-1911)tAc>tGc p.Y637C NTRK1_ENST00000392302.2_Intron NM_014215.2 NP_055030.1 P14616 INSRR_HUMAN insulin receptor-related receptor 637 Fibronectin type-III 2. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 42 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CACCAGGTAGTAGGTGAGGTT 0.677000 15 45 0 0 1 0 0 OR52N4 390072 broad.mit.edu 37 11 5776763 5776763 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:5776763C>T ENST00000317254.3 + 1 841 c.793C>T c.(793-795)Cgc>Tgc p.R265C TRIM5_ENST00000380027.1_Intron NM_001005175.2 NP_001005175.3 Q8NGI2 O52N4_HUMAN olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene) 265 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197) CTTTTCCCACCGCTTTGGGGA 0.473000 34 143 0 0 1 0 0 EPHB3 2049 broad.mit.edu 37 3 184297495 184297495 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:184297495C>T ENST00000330394.2 + 11 2397 c.1945C>T c.(1945-1947)Cgt>Tgt p.R649C EIF2B5_ENST00000444495.1_Intron NM_004443.3 NP_004434.2 P54753 EPHB3_HUMAN EPH receptor B3 649 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_cancers(143;1.89e-10)|Ovarian(172;0.0339) Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22) GGAAGTGTGCCGTGGTCGACT 0.612000 16 56 0 0 1 0 0 IPO11 51194 broad.mit.edu 37 5 61923013 61923013 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:61923013A>G ENST00000325324.6 + 30 2965 c.2796A>G c.(2794-2796)tcA>tcG p.S932S IPO11_ENST00000409534.1_Silent_p.S51S|IPO11_ENST00000409296.3_Silent_p.S972S|IPO11_ENST00000512177.1_3'UTR NM_016338.4 NP_057422.3 Q9UI26 IPO11_HUMAN importin 11 932 cytoplasm|nucleus protein binding endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2) 30 Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077) Lung(70;0.0613) ATACAGTGTCACTGCAGCAGT 0.483000 8 58 0 0 1 0 0 NUP210L 91181 broad.mit.edu 37 1 154072543 154072543 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:154072543T>C ENST00000368559.3 - 14 1967 c.1896A>G c.(1894-1896)acA>acG p.T632T NUP210L_ENST00000271854.3_Silent_p.T632T NM_207308.2 NP_997191.2 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like 632 integral to membrane NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2) 80 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) TCACACTTACTGTTACCAGAG 0.398000 63 159 0 0 1 0 0 ERBB2IP 55914 broad.mit.edu 37 5 65349638 65349638 + Missense_Mutation SNP A A G rs143804809 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:65349638A>G ENST00000284037.5 + 21 2881 c.2492A>G c.(2491-2493)cAg>cGg p.Q831R ERBB2IP_ENST00000380936.1_Missense_Mutation_p.Q831R|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.Q831R|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.Q831R|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.Q827R|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.Q831R|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.Q831R|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.Q831R|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.Q831R NM_001253697.1 NP_001240626.1 Q96RT1 LAP2_HUMAN erbb2 interacting protein 831 basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization basement membrane|cytoplasm|hemidesmosome|nucleus ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2) 36 Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234) UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191) GAAACTTCCCAGTCTCCTAAT 0.388000 10 29 0 0 1 0 0 TRMT1L 81627 broad.mit.edu 37 1 185125810 185125810 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:185125810A>G ENST00000367506.5 - 1 303 c.35T>C c.(34-36)cTg>cCg p.L12P TRMT1L_ENST00000367504.3_5'UTR NM_001202423.1|NM_030934.4 NP_001189352.1|NP_112196.3 Q7Z2T5 TRM1L_HUMAN tRNA methyltransferase 1 homolog (S. cerevisiae)-like 12 intracellular RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 21 CTCCTTCTCCAGGGGCAGCAG 0.716000 16 58 0 0 1 0 0 FAM86EP 348926 broad.mit.edu 37 4 3948355 3948355 + RNA SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:3948355G>A ENST00000313946.8 - 0 1232 CTGCTCACCGGCCTCTGCCCG 0.642000 4 17 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179586855 179586855 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:179586855T>C ENST00000589042.1 - 78 22759 c.22535A>G c.(22534-22536)aAg>aGg p.K7512R TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.K6268R|TTN_ENST00000591111.1_Missense_Mutation_p.K7195R|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 7195 Ig-like 57. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity 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) GGGAGATTTCTTGGGTTCTGG 0.388000 8 232 0 0 1 0 0 BMPR2 659 broad.mit.edu 37 2 203383606 203383606 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:203383606C>T ENST00000374580.4 + 6 1222 c.683C>T c.(682-684)gCt>gTt p.A228V BMPR2_ENST00000374574.2_Missense_Mutation_p.A228V NM_001204.6 NP_001195.2 Q13873 BMPR2_HUMAN bone morphogenetic protein receptor, type II (serine/threonine kinase) 228 Protein kinase. anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway integral to plasma membrane ATP binding|metal ion binding|transforming growth factor beta receptor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2) 42 CGTCCAGTTGCTGTAAAAGTG 0.398000 30 70 0 0 1 0 0 TSHZ3 57616 broad.mit.edu 37 19 31770175 31770175 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:31770175G>A ENST00000240587.4 - 2 851 c.524C>T c.(523-525)aCg>aTg p.T175M NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 175 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) CTGCTGCAGCGTCTTAGCCAT 0.627000 16 33 0 0 1 0 0 MED16 10025 broad.mit.edu 37 19 868422 868422 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:868422T>C ENST00000312090.6 - 16 2684 c.2534A>G c.(2533-2535)aAc>aGc p.N845S MED16_ENST00000325464.1_Missense_Mutation_p.N826S|MED16_ENST00000269814.4_3'UTR|MED16_ENST00000589119.1_Missense_Mutation_p.N826S|MED16_ENST00000395808.3_Missense_Mutation_p.N826S Q9Y2X0 MED16_HUMAN mediator complex subunit 16 826 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 21 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|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) GCACAGGCAGTTCTTGATCCA 0.667000 5 27 0 0 1 0 0 CBX2 84733 broad.mit.edu 37 17 77757830 77757830 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:77757830G>A ENST00000310942.4 + 5 692 c.588G>A c.(586-588)ccG>ccA p.P196P NM_005189.2 NP_005180.1 Q14781 CBX2_HUMAN chromobox homolog 2 196 cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent PcG protein complex DNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1) 16 OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224) TGGGGGCCCCGGCCAGCAAGC 0.701000 22 45 0 0 1 0 0 C11orf30 56946 broad.mit.edu 37 11 76261120 76261120 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:76261120A>G ENST00000529032.1 + 20 3899 c.3899A>G c.(3898-3900)cAg>cGg p.Q1300R C11orf30_ENST00000343878.3_Missense_Mutation_p.Q1133R|C11orf30_ENST00000525919.1_Missense_Mutation_p.Q1301R|C11orf30_ENST00000533248.1_Missense_Mutation_p.Q1209R|C11orf30_ENST00000524490.1_Missense_Mutation_p.Q1202R|C11orf30_ENST00000524767.1_Missense_Mutation_p.Q1315R|C11orf30_ENST00000334736.3_Missense_Mutation_p.Q1300R|C11orf30_ENST00000525038.1_Missense_Mutation_p.Q1301R Q7Z589 EMSY_HUMAN chromosome 11 open reading frame 30 1300 chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2) 60 GCAATGGAGCAGGACATAGAC 0.507000 19 49 0 0 1 0 0 SLC6A18 348932 broad.mit.edu 37 5 1232472 1232472 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:1232472T>C ENST00000324642.3 + 2 422 c.299T>C c.(298-300)gTa>gCa p.V100A SLC6A18_ENST00000296821.4_Missense_Mutation_p.V100A NM_182632.2 NP_872438.2 Q96N87 S6A18_HUMAN solute carrier family 6 (neutral amino acid transporter), member 18 100 cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1) 34 all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10) Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) CTCAGTGGAGTAGGTAGGCCA 0.687000 3 23 0 0 1 0 0 METTL6 131965 broad.mit.edu 37 3 15467981 15467981 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:15467981A>G ENST00000443029.1 - 2 278 c.38T>C c.(37-39)aTt>aCt p.I13T METTL6_ENST00000383789.5_Missense_Mutation_p.I13T|METTL6_ENST00000383790.3_Missense_Mutation_p.I13T|METTL6_ENST00000450816.2_Missense_Mutation_p.I13T Q8TCB7 METL6_HUMAN methyltransferase like 6 13 methyltransferase activity endometrium(1)|kidney(1)|large_intestine(9)|lung(3)|prostate(1) 15 AGAGGTGAGAATCCTTGCCTG 0.408000 5 123 0 0 1 0 0 ZNF684 127396 broad.mit.edu 37 1 41012480 41012480 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:41012480G>A ENST00000372699.3 + 5 736 c.485G>A c.(484-486)aGt>aAt p.S162N ZNF684_ENST00000493756.1_3'UTR NM_152373.3 NP_689586.3 Q5T5D7 ZN684_HUMAN zinc finger protein 684 162 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|kidney(2)|lung(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 13 Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;5.42e-18) TATGAATGCAGTGAATGCGGG 0.308000 15 46 0 0 1 0 0 SLC12A6 9990 broad.mit.edu 37 15 34529731 34529731 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:34529731T>C ENST00000354181.3 - 22 3315 c.2823A>G c.(2821-2823)atA>atG p.I941M SLC12A6_ENST00000397702.2_Missense_Mutation_p.I882M|SLC12A6_ENST00000458406.2_Missense_Mutation_p.I882M|SLC12A6_ENST00000290209.5_Missense_Mutation_p.I890M|SLC12A6_ENST00000397707.2_Missense_Mutation_p.I926M|SLC12A6_ENST00000558589.1_Missense_Mutation_p.I932M|SLC12A6_ENST00000451844.2_Missense_Mutation_p.I753M|SLC12A6_ENST00000560611.1_Missense_Mutation_p.I941M|SLC12A6_ENST00000560164.1_Missense_Mutation_p.I753M|SLC12A6_ENST00000558667.1_Missense_Mutation_p.I941M Q9UHW9 S12A6_HUMAN solute carrier family 12 (potassium/chloride transporter), member 6 941 angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport basolateral plasma membrane|integral to membrane potassium:chloride symporter activity central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3) 45 all_lung(180;2.78e-08) all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301) Potassium Chloride(DB00761) TGAAGATCCGTATGCTGCACT 0.433000 10 75 0 0 1 0 0 KDM2A 22992 broad.mit.edu 37 11 66986772 66986772 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:66986772T>C ENST00000529006.2 + 10 1301 c.855T>C c.(853-855)gcT>gcC p.A285A KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000398645.2_Silent_p.A285A NM_012308.2 NP_036440.1 Q9Y2K7 KDM2A_HUMAN lysine (K)-specific demethylase 2A 285 JmjC. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2) 36 GGATTCATGCTGTGTATACTC 0.428000 8 28 0 0 1 0 0 GABARAPL2 11345 broad.mit.edu 37 16 75602095 75602095 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:75602095T>C ENST00000037243.2 + 3 387 c.251T>C c.(250-252)gTc>gCc p.V84A GABARAPL2_ENST00000565057.1_Missense_Mutation_p.V84A|RP11-77K12.8_ENST00000564489.1_RNA|GABARAPL2_ENST00000568455.1_Missense_Mutation_p.V24A|GABARAPL2_ENST00000563744.1_Intron NM_007285.6 NP_009216.1 P60520 GBRL2_HUMAN GABA(A) receptor-associated protein-like 2 84 autophagy|intra-Golgi vesicle-mediated transport|positive regulation of ATPase activity|protein transport autophagic vacuole membrane|cytosol|Golgi membrane|membrane fraction ATPase binding|beta-tubulin binding|GABA receptor binding|microtubule binding|SNARE binding lung(1)|ovary(1) 2 GATAAGACAGTCCCACAGTCC 0.463000 40 113 0 0 1 0 0 ATP10A 57194 broad.mit.edu 37 15 25981276 25981276 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:25981276T>C ENST00000356865.6 - 3 778 c.667A>G c.(667-669)Aat>Gat p.N223D NM_024490.3 NP_077816.1 O60312 AT10A_HUMAN ATPase, class V, type 10A 223 ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 103 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) GTCAAAGGATTGAATTCGGAG 0.527000 5 26 0 0 1 0 0 EGLN2 112398 broad.mit.edu 37 19 41307039 41307039 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:41307039T>C ENST00000593726.1 + 1 1590 c.562T>C c.(562-564)Tac>Cac p.Y188H EGLN2_ENST00000406058.2_Missense_Mutation_p.Y188H|EGLN2_ENST00000303961.4_Missense_Mutation_p.Y188H|RAB4B-EGLN2_ENST00000594136.1_3'UTR Q96KS0 EGLN2_HUMAN egl-9 family hypoxia-inducible factor 2 188 cell redox homeostasis|estrogen receptor signaling pathway|positive regulation of protein catabolic process|regulation of cell growth|response to hypoxia cytoplasm|nucleus ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|oxygen sensor activity breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2) 10 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) Vitamin C(DB00126) CTGCATGCGGTACTACGGCAT 0.687000 57 216 0 0 1 0 0 IRX1 79192 broad.mit.edu 37 5 3601144 3601144 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:3601144C>T ENST00000302006.3 + 4 1485 c.1433C>T c.(1432-1434)cCg>cTg p.P478L NM_024337.3 NP_077313.3 P78414 IRX1_HUMAN iroquois homeobox 1 478 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 43 GCAGCCCTCCCGTCCGCCTGA 0.587000 18 56 0 0 1 0 0 PARD3B 117583 broad.mit.edu 37 2 205978293 205978293 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:205978293G>A ENST00000406610.2 + 6 879 c.672G>A c.(670-672)ctG>ctA p.L224L PARD3B_ENST00000358768.2_Silent_p.L224L|PARD3B_ENST00000462231.1_Silent_p.L224L|PARD3B_ENST00000349953.3_Silent_p.L224L|PARD3B_ENST00000351153.1_Silent_p.L224L NM_057177.6|NM_152526.5|NM_205863.3 NP_476518.4|NP_689739.4|NP_995585.2 Q8TEW8 PAR3L_HUMAN par-3 family cell polarity regulator beta 224 PDZ 1. cell cycle|cell division endomembrane system|tight junction breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 65 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) TTTCATCTCTGAGTGGAAGGT 0.408000 8 20 0 0 1 0 0 TENM2 57451 broad.mit.edu 37 5 167379617 167379617 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:167379617C>T ENST00000519204.1 + 3 492 c.374C>T c.(373-375)tCg>tTg p.S125L TENM2_ENST00000520394.1_Missense_Mutation_p.S55L|CTC-353G13.1_ENST00000523050.1_RNA|TENM2_ENST00000403607.2_Missense_Mutation_p.S79L|TENM2_ENST00000520393.1_3'UTR|TENM2_ENST00000518659.1_Missense_Mutation_p.S246L|TENM2_ENST00000545108.1_Missense_Mutation_p.S246L teneurin transmembrane protein 2 CACAGCCAGTCGACTCTGAGG 0.567000 5 30 0 0 1 0 0 PPP1R7 5510 broad.mit.edu 37 2 242105761 242105761 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:242105761C>T ENST00000234038.6 + 8 1198 c.724C>T c.(724-726)Ctg>Ttg p.L242L PPP1R7_ENST00000407025.1_Silent_p.L242L|PPP1R7_ENST00000272983.8_Silent_p.L199L|PPP1R7_ENST00000406106.3_Silent_p.L242L|PPP1R7_ENST00000404405.3_Silent_p.L236L|PPP1R7_ENST00000402734.1_Silent_p.L183L|PPP1R7_ENST00000485630.1_3'UTR|PPP1R7_ENST00000401987.1_Silent_p.L199L NM_002712.1 NP_002703.1 Q15435 PP1R7_HUMAN protein phosphatase 1, regulatory subunit 7 242 cytoplasm|nucleus protein binding|protein phosphatase type 1 regulator activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3) 23 all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096) GAGCAACCGGCTGACCAAGAT 0.498000 9 31 0 0 1 0 0 CEP250 11190 broad.mit.edu 37 20 34096009 34096009 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:34096009C>T ENST00000397527.1 + 32 7616 c.6896C>T c.(6895-6897)aCc>aTc p.T2299I CEP250_ENST00000342580.4_Missense_Mutation_p.T2243I NM_007186.3 NP_009117.2 Q9BV73 CP250_HUMAN centrosomal protein 250kDa 2299 centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) CTGCGGAGTACCTTGGAGCAG 0.572000 46 138 0 0 1 0 0 KIF27 55582 broad.mit.edu 37 9 86474116 86474116 + Missense_Mutation SNP G G C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:86474116G>C ENST00000297814.2 - 14 3248 c.3105C>G c.(3103-3105)caC>caG p.H1035Q RP11-575L7.4_ENST00000592283.1_RNA|RP11-575L7.4_ENST00000591217.1_RNA|RP11-575L7.4_ENST00000421734.3_RNA|RP11-575L7.4_ENST00000590368.1_RNA|RP11-575L7.4_ENST00000586206.1_RNA|RP11-575L7.4_ENST00000589233.1_RNA|RP11-575L7.4_ENST00000589817.1_RNA|RP11-575L7.4_ENST00000590417.1_RNA|KIF27_ENST00000334204.2_Missense_Mutation_p.H938Q|KIF27_ENST00000413982.1_Missense_Mutation_p.H969Q|RP11-575L7.4_ENST00000586211.1_RNA NM_017576.1 NP_060046.1 Q86VH2 KIF27_HUMAN kinesin family member 27 1035 cilium assembly|microtubule-based movement cilium|cytoplasm|microtubule ATP binding|microtubule motor activity breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 43 CATCCACATTGTGTCTGCGTT 0.413000 28 128 0 0 1 0 0 MTHFD1 4522 broad.mit.edu 37 14 64906957 64906957 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:64906957A>G ENST00000555709.1 + 18 2175 c.1788A>G c.(1786-1788)aaA>aaG p.K596K MTHFD1_ENST00000545908.1_Silent_p.K652K|CTD-2555O16.2_ENST00000556640.1_RNA|MTHFD1_ENST00000555252.1_Silent_p.K576K|MTHFD1_ENST00000216605.7_Silent_p.K652K NM_005956.3 NP_005947.3 P11586 C1TC_HUMAN methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase 596 Formyltetrahydrofolate synthetase. folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process cytosol|mitochondrion ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2) 30 OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488) NADH(DB00157)|Tetrahydrofolic acid(DB00116) CCAGTAAGAAAGGAGAGCCCG 0.512000 17 47 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 89979645 89979645 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:89979645T>C ENST00000405460.2 + 28 6003 c.5907T>C c.(5905-5907)gtT>gtC p.V1969V NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 1969 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) CGTTAACAGTTTTGGCTAGTG 0.408000 13 18 0 0 1 0 0 LDHA 3939 broad.mit.edu 37 11 18428863 18428863 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:18428863C>T ENST00000396222.2 + 7 864 c.765C>T c.(763-765)ggC>ggT p.G255G LDHA_ENST00000379412.5_3'UTR|LDHA_ENST00000540430.1_3'UTR|LDHA_ENST00000430553.2_3'UTR|LDHA_ENST00000422447.3_3'UTR|LDHA_ENST00000227157.4_3'UTR NM_001165415.1 NP_001158887.1 P00338 LDHA_HUMAN lactate dehydrogenase A 0 glycolysis|pyruvate metabolic process cytosol L-lactate dehydrogenase activity|protein binding central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(4) 12 NADH(DB00157) ACTGTCTAGGCTACAACAGGA 0.398000 10 48 0 0 1 0 0 MUC5AC 4586 broad.mit.edu 37 11 1156656 1156656 + Missense_Mutation SNP T T A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:1156656T>A ENST00000356191.2 + 10 665 c.665T>A c.(664-666)cTc>cAc p.L222H mucin 5AC, oligomeric mucus/gel-forming NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 203 all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724) CGAGCTCCTCTCCCACAGTAA 0.617000 30 69 0 0 1 0 0 ATAD3C 219293 broad.mit.edu 37 1 1403878 1403878 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:1403878C>T ENST00000378785.2 + 12 2199 c.1204C>T c.(1204-1206)Cct>Tct p.P402S NM_001039211.2 NP_001034300.2 Q5T2N8 ATD3C_HUMAN ATPase family, AAA domain containing 3C 402 ATP binding|nucleoside-triphosphatase activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4) 7 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) GGGGGAGAGGCCTGGGCCCGA 0.672000 8 34 0 0 1 0 0 HIPK1 204851 broad.mit.edu 37 1 114484037 114484037 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:114484037T>C ENST00000369558.1 + 2 1264 c.1032T>C c.(1030-1032)gtT>gtC p.V344V HIPK1_ENST00000369554.2_Silent_p.V344V|HIPK1_ENST00000369555.2_Silent_p.V344V|HIPK1_ENST00000369561.4_Silent_p.V344V|HIPK1_ENST00000369559.4_Silent_p.V344V|HIPK1_ENST00000426820.2_Silent_p.V344V Q86Z02 HIPK1_HUMAN homeodomain interacting protein kinase 1 344 Protein kinase. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2) 39 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CTAGTCACGTTTCCAAAGCTG 0.453000 54 161 0 0 1 0 0 BEST3 144453 broad.mit.edu 37 12 70049492 70049492 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:70049492G>A ENST00000330891.5 - 10 1428 c.1202C>T c.(1201-1203)gCc>gTc p.A401V BEST3_ENST00000331471.4_Intron|BEST3_ENST00000553096.1_Missense_Mutation_p.A295V|BEST3_ENST00000488961.1_Missense_Mutation_p.A188V NM_032735.2 NP_116124.2 Q8N1M1 BEST3_HUMAN bestrophin 3 401 chloride channel complex|plasma membrane chloride channel activity p.A188V(1)|p.A401V(1) cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2) 12 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) GTGTTCGTGGGCACTCAGGAA 0.562000 45 212 0 0 1 0 0 GNAT3 346562 broad.mit.edu 37 7 80091946 80091946 + Splice_Site SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:80091946T>C ENST00000398291.3 - 6 685 c.590_splice c.e6-1 p.M198_splice CD36_ENST00000435819.1_Intron NM_001102386.1 NP_001095856.1 A8MTJ3 GNAT3_HUMAN guanine nucleotide binding protein, alpha transducing 3 198 detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity endometrium(1)|large_intestine(2)|lung(5)|ovary(1) 9 ACATCAAACATCCTTTAAGAA 0.358000 10 40 0 0 1 0 0 MUC13 56667 broad.mit.edu 37 3 124646509 124646509 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:124646509A>G ENST00000311075.3 - 2 419 c.381T>C c.(379-381)gaT>gaC p.D127D NM_033049.3 NP_149038.3 Q9H3R2 MUC13_HUMAN mucin 13, cell surface associated 127 Thr-rich. extracellular region|integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1) 18 TGATTAATCCATCATTTGGAG 0.438000 75 222 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179605944 179605944 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:179605944T>C ENST00000589042.1 - 48 12240 c.12016A>G c.(12016-12018)Agt>Ggt p.S4006G TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S3643G|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.S3689G|TTN_ENST00000359218.5_Missense_Mutation_p.S3768G|TTN_ENST00000342175.6_Missense_Mutation_p.S3835G|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 3689 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity 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) TAGAGGCCACTGTCTTCCCTC 0.453000 38 93 0 0 1 0 0 KCNK16 83795 broad.mit.edu 37 6 39284104 39284104 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:39284104T>C ENST00000373229.5 - 5 789 c.776A>G c.(775-777)cAc>cGc p.H259R KCNK16_ENST00000507712.1_Intron|KCNK16_ENST00000373227.4_Intron|KCNK16_ENST00000437525.2_Missense_Mutation_p.H259R|KCNK16_ENST00000425054.2_Intron NM_032115.3 NP_115491.1 Q96T55 KCNKG_HUMAN potassium channel, subfamily K, member 16 259 integral to membrane potassium channel activity|voltage-gated ion channel activity large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2) 13 GCAGCATCTGTGCAGAAGCAG 0.637000 7 23 0 0 1 0 0 PDGFRL 5157 broad.mit.edu 37 8 17447030 17447030 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:17447030A>G ENST00000541323.1 + 3 554 c.109A>G c.(109-111)Aga>Gga p.R37G PDGFRL_ENST00000398074.3_Missense_Mutation_p.R37G|PDGFRL_ENST00000251630.6_Missense_Mutation_p.R37G NM_006207.2 NP_006198.1 Q15198 PGFRL_HUMAN platelet-derived growth factor receptor-like 37 extracellular region platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5) 9 Colorectal(111;0.0752) AGGAGAGAATAGAATCAAACC 0.433000 64 233 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186277353 186277353 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:186277353T>C ENST00000445192.2 + 7 2547 c.2502T>C c.(2500-2502)ccT>ccC p.P834P PRG4_ENST00000367484.3_Silent_p.P363P|PRG4_ENST00000367483.4_Silent_p.P793P|PRG4_ENST00000367486.3_Silent_p.P791P|PRG4_ENST00000367485.4_Silent_p.P741P NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 834 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CCAAGGAGCCTGCACCCACTA 0.577000 90 302 0 0 1 0 0 MLH1 4292 broad.mit.edu 37 3 37042542 37042542 + Nonsense_Mutation SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:37042542G>T ENST00000231790.2 + 3 520 c.304G>T c.(304-306)Gag>Tag p.E102* MLH1_ENST00000536378.1_5'UTR|MLH1_ENST00000458205.2_5'UTR|MLH1_ENST00000492474.1_3'UTR|MLH1_ENST00000435176.1_Intron|MLH1_ENST00000455445.2_5'UTR|MLH1_ENST00000539477.1_5'UTR NM_000249.3|NM_001258273.1 NP_000240.1|NP_001245202.1 P40692 MLH1_HUMAN mutL homolog 1 102 E -> K (in HNPCC2; uncertain pathogenicity). mismatch repair|somatic hypermutation of immunoglobulin genes chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex ATP binding|ATPase activity|protein binding NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 127 CTTTCGAGGTGAGGTAAGCTA 0.348000 1 """D, Mis, N, F, S""" """colorectal, endometrial, ovarian, CNS""" """colorectal, endometrial, ovarian, CNS""" Mismatch excision repair (MMR) Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 35 28 6.53348e-20 6.88128e-20 1 1 0 SAMD9L 219285 broad.mit.edu 37 7 92760603 92760603 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:92760603T>C ENST00000318238.4 - 5 5898 c.4682A>G c.(4681-4683)aAc>aGc p.N1561S SAMD9L_ENST00000411955.1_Missense_Mutation_p.N1561S|SAMD9L_ENST00000437805.1_Missense_Mutation_p.N1561S NM_152703.2 NP_689916.2 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 1561 central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 88 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) TCTTTCTATGTTCCTACCACT 0.363000 16 45 0 0 1 0 0 TCEB3C 162699 broad.mit.edu 37 18 44555185 44555185 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr18:44555185C>T ENST00000330682.2 - 1 1264 c.1029G>A c.(1027-1029)cgG>cgA p.R343R KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron NM_145653.3 NP_663628.2 Q8NG57 ELOA3_HUMAN transcription elongation factor B polypeptide 3C (elongin A3) 343 Activation domain (By similarity).|Interaction with elongin BC (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane|nucleus DNA binding NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2) 30 TCCTAGGCACCCGGAGGCACT 0.652000 25 783 0 0 1 0 0 FERMT2 10979 broad.mit.edu 37 14 53348085 53348085 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:53348085T>C ENST00000395631.2 - 5 845 c.629A>G c.(628-630)gAc>gGc p.D210G FERMT2_ENST00000399304.3_Missense_Mutation_p.D210G|FERMT2_ENST00000553373.1_Missense_Mutation_p.D210G|FERMT2_ENST00000343279.4_Missense_Mutation_p.D210G|FERMT2_ENST00000341590.3_Missense_Mutation_p.D210G Q96AC1 FERM2_HUMAN fermitin family member 2 210 FERM. actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape cell cortex|cytosol|focal adhesion|stress fiber binding ERO1L/FERMT2(2) NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 20 Breast(41;0.0342) CAAAGCACTGTCACCAAACCA 0.438000 4 213 0 0 1 0 0 FJX1 24147 broad.mit.edu 37 11 35640687 35640687 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:35640687T>C ENST00000317811.4 + 1 953 c.503T>C c.(502-504)cTg>cCg p.L168P NM_014344.3 NP_055159.2 Q86VR8 FJX1_HUMAN four jointed box 1 (Drosophila) 168 extracellular space lung(1)|urinary_tract(1) 2 all_cancers(35;0.177)|all_lung(20;0.0238)|Lung NSC(22;0.0494)|all_epithelial(35;0.0739) all_hematologic(20;0.107) TCCAACCGACTGGCCCGTTTT 0.726000 7 16 0 0 1 0 0 EHMT1 79813 broad.mit.edu 37 9 140706049 140706049 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:140706049A>G ENST00000460843.1 + 19 2876 c.2849A>G c.(2848-2850)aAc>aGc p.N950S NM_024757.4 NP_079033.4 Q9H9B1 EHMT1_HUMAN euchromatic histone-lysine N-methyltransferase 1 950 DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 all_cancers(76;0.164) OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728) GCCCGGGAGAACCGCTACGAC 0.647000 17 66 0 0 1 0 0 SYNPO2 171024 broad.mit.edu 37 4 119951959 119951959 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:119951959C>T ENST00000307142.4 + 4 2225 c.2029C>T c.(2029-2031)Cca>Tca p.P677S SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000429713.2_Missense_Mutation_p.P677S|SYNPO2_ENST00000434046.2_Missense_Mutation_p.P677S NM_133477.2 NP_597734.2 Q9UMS6 SYNP2_HUMAN synaptopodin 2 677 nucleus|Z disc 14-3-3 protein binding|actin binding|muscle alpha-actinin binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 GATCTCAGTGCCAGCAAAAAG 0.517000 12 70 0 0 1 0 0 RBM10 8241 broad.mit.edu 37 X 47034443 47034443 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chrX:47034443C>T ENST00000377604.3 + 6 1270 c.528C>T c.(526-528)gtC>gtT p.V176V RBM10_ENST00000329236.7_Silent_p.V99V|RBM10_ENST00000468791.1_Intron|RBM10_ENST00000345781.6_Silent_p.V99V NM_001204467.1|NM_001204468.1|NM_005676.4 NP_001191396.1|NP_001191397.1|NP_005667.2 P98175 RBM10_HUMAN RNA binding motif protein 10 176 RRM 1. mRNA processing|RNA splicing chromatin remodeling complex nucleotide binding|RNA binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 48 TCGCCTTCGTCGAGTTTAGTC 0.552000 30 39 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149505380 149505380 + RNA SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:149505380G>A ENST00000378016.2 + 0 8938 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) ATGCACCTCGGAGCGCTGCCC 0.602000 36 140 0 0 1 0 0 ITGA11 22801 broad.mit.edu 37 15 68695275 68695275 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:68695275T>C ENST00000423218.2 - 2 241 c.146A>G c.(145-147)gAc>gGc p.D49G ITGA11_ENST00000315757.7_Missense_Mutation_p.D49G Q9UKX5 ITA11_HUMAN integrin, alpha 11 49 cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development integrin complex collagen binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 52 Tirofiban(DB00775) GCCACTGATGTCGTGCTGCTG 0.627000 10 15 0 0 1 0 0 CCDC93 54520 broad.mit.edu 37 2 118698771 118698771 + Missense_Mutation SNP G G A rs148434878 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:118698771G>A ENST00000376300.2 - 19 1653 c.1516C>T c.(1516-1518)Cgc>Tgc p.R506C CCDC93_ENST00000319432.5_Missense_Mutation_p.R505C NM_019044.4 NP_061917.3 Q567U6 CCD93_HUMAN coiled-coil domain containing 93 506 breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2) 29 CTACTCTGGCGGTAGAGTTCA 0.498000 17 55 0 0 1 0 0 RNF148 378925 broad.mit.edu 37 7 122342612 122342612 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:122342612G>A ENST00000434824.1 - 1 409 c.193C>T c.(193-195)Cat>Tat p.H65Y CADPS2_ENST00000449022.2_Intron|RNF148_ENST00000447240.1_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000412584.2_Intron NM_198085.1 NP_932351.1 Q8N7C7 RN148_HUMAN ring finger protein 148 65 PA. integral to membrane zinc ion binding endometrium(2)|kidney(1)|large_intestine(6)|lung(7) 16 AGAGGAGAATGATTCCCGAAC 0.473000 4 77 0 0 1 0 0 SPEN 23013 broad.mit.edu 37 1 16256223 16256223 + Missense_Mutation SNP T T A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:16256223T>A ENST00000375759.3 + 11 3692 c.3488T>A c.(3487-3489)aTc>aAc p.I1163N NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 1163 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) GGCATTGACATCGATCACACG 0.398000 7 47 0 0 1 0 0 SHB 6461 broad.mit.edu 37 9 38016099 38016099 + Silent SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:38016099G>T ENST00000377707.3 - 2 1312 c.747C>A c.(745-747)ccC>ccA p.P249P SHB_ENST00000377700.4_Silent_p.P249P|RP11-613M10.9_ENST00000540557.1_Silent_p.P249P NM_003028.2 NP_003019.2 Q15464 SHB_HUMAN Src homology 2 domain containing adaptor protein B 249 Mediates interaction with LAT, FAK1, JAK1 and JAK3. angiogenesis|apoptosis|cell differentiation|signal transduction cytoplasm|plasma membrane SH3/SH2 adaptor activity central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1) 11 all_epithelial(88;0.122) GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658) TGGCATCAAAGGGATCTGAGT 0.507000 42 109 1.59361e-14 1.66677e-14 1 1 0 B3GALNT2 148789 broad.mit.edu 37 1 235618984 235618984 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:235618984T>C ENST00000366600.3 - 9 1266 c.1038A>G c.(1036-1038)acA>acG p.T346T NM_152490.2 NP_689703.1 Q8NCR0 B3GL2_HUMAN beta-1,3-N-acetylgalactosaminyltransferase 2 346 protein glycosylation Golgi membrane|integral to membrane galactosyltransferase activity NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 18 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.0539)|Prostate(94;0.0353) OV - Ovarian serous cystadenocarcinoma(106;0.000117) TGAAGCTCGTTGTTTCCACAG 0.403000 12 39 0 0 1 0 0 PGLYRP2 114770 broad.mit.edu 37 19 15586853 15586853 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:15586853A>G ENST00000292609.4 - 2 757 c.628T>C c.(628-630)Tcc>Ccc p.S210P PGLYRP2_ENST00000340880.4_Missense_Mutation_p.S210P Q96PD5 PGRP2_HUMAN peptidoglycan recognition protein 2 210 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1) 28 GTCGGTGGGGACTTGGCTTTG 0.577000 64 151 0 0 1 0 0 CREBBP 1387 broad.mit.edu 37 16 3788663 3788663 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:3788663T>C ENST00000262367.5 - 26 5100 c.4291A>G c.(4291-4293)Att>Gtt p.I1431V CREBBP_ENST00000382070.3_Missense_Mutation_p.I1393V NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 1431 Cys/His-rich. cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) AGATAAGAAATGTACACACGC 0.418000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 12 25 0 0 1 0 0 C1orf65 164127 broad.mit.edu 37 1 223568079 223568079 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:223568079A>G ENST00000366875.3 + 1 1365 c.1262A>G c.(1261-1263)gAc>gGc p.D421G NM_152610.2 NP_689823.2 Q8N715 CA065_HUMAN chromosome 1 open reading frame 65 421 breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3) 29 GBM - Glioblastoma multiforme(131;0.0704) AAGGTCCAGGACACCAACCTG 0.612000 10 54 0 0 1 0 0 SLC25A20 788 broad.mit.edu 37 3 48921521 48921521 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:48921521T>C ENST00000319017.4 - 3 433 c.235A>G c.(235-237)Atc>Gtc p.I79V SLC25A20_ENST00000430379.1_Intron|SLC25A20_ENST00000544097.1_Missense_Mutation_p.I29V NM_000387.5 NP_000378.1 O43772 MCAT_HUMAN solute carrier family 25 (carnitine/acylcarnitine translocase), member 20 79 carnitine shuttle|cellular lipid metabolic process|regulation of fatty acid oxidation integral to membrane|mitochondrial inner membrane acyl carnitine transporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(1) 13 BRCA - Breast invasive adenocarcinoma(193;0.000168)|Kidney(197;0.00231)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) L-Carnitine(DB00583) ACCCCGATGATAGGGGCAGCC 0.493000 15 60 0 0 1 0 0 TRPM7 54822 broad.mit.edu 37 15 50868071 50868071 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:50868071T>C ENST00000313478.7 - 32 4945 c.4664A>G c.(4663-4665)tAt>tGt p.Y1555C TRPM7_ENST00000560955.1_Missense_Mutation_p.Y1554C|TRPM7_ENST00000561443.1_5'UTR NM_017672.4 NP_060142.3 Q96QT4 TRPM7_HUMAN transient receptor potential cation channel, subfamily M, member 7 1555 cell death integral to membrane ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3) 52 all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045) CTGACCTGAATAATAGTAATT 0.294000 4 46 0 0 1 0 0 GSK3B 2932 broad.mit.edu 37 3 119631553 119631553 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:119631553A>G ENST00000264235.8 - 6 1695 c.713T>C c.(712-714)aTa>aCa p.I238T GSK3B_ENST00000316626.5_Missense_Mutation_p.I238T NM_001146156.1|NM_002093.3 NP_001139628.1|NP_002084.2 P49841 GSK3B_HUMAN glycogen synthase kinase 3 beta 238 Protein kinase. axon guidance|epithelial to mesenchymal transition|ER overload response|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|positive regulation of Rac GTPase activity|regulation of microtubule-based process|superior temporal gyrus development Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane ATP binding|beta-catenin binding|NF-kappaB binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|RNA polymerase II transcription factor binding|tau-protein kinase activity|ubiquitin protein ligase binding p.I238T(2) endometrium(1)|large_intestine(8)|lung(7)|prostate(2) 18 GBM - Glioblastoma multiforme(114;0.24) Lithium(DB01356) GTACTTACCTATACTAGAGGT 0.358000 8 24 0 0 1 0 0 ZNF2 7549 broad.mit.edu 37 2 95847832 95847832 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:95847832A>G ENST00000398107.2 + 4 1655 c.1133A>G c.(1132-1134)tAc>tGc p.Y378C ZNF2_ENST00000295210.6_Missense_Mutation_p.Y382C|ZNF2_ENST00000425369.1_Missense_Mutation_p.Y340C|ZNF2_ENST00000340539.5_Missense_Mutation_p.Y420C|ZNF2_ENST00000453539.2_Missense_Mutation_p.Y433C NM_001017396.1 NP_001017396.1 Q9BSG1 ZNF2_HUMAN zinc finger protein 2 419 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1) 12 Ovarian(717;0.00768) READ - Rectum adenocarcinoma(193;0.0222) CAACGGCGTTACGCCAAACAG 0.453000 27 85 0 0 1 0 0 PCDHB10 56126 broad.mit.edu 37 5 140573811 140573811 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:140573811G>A ENST00000239446.4 + 1 1870 c.1686G>A c.(1684-1686)ctG>ctA p.L562L NM_018930.3 NP_061753.1 Q9UN67 PCDBA_HUMAN 562 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 76 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCTTCGTGCTGTACCCGCTGC 0.731000 24 129 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179463272 179463272 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:179463272G>A ENST00000589042.1 - 292 57296 c.57072C>T c.(57070-57072)atC>atT p.I19024I TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Silent_p.I9959I|TTN_ENST00000342992.6_Silent_p.I16456I|TTN_ENST00000591111.1_Silent_p.I17383I|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Silent_p.I10084I|TTN_ENST00000342175.6_Silent_p.I10151I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 17383 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity 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) TATATTCAACGATGTATCCAG 0.378000 11 32 0 0 1 0 0 INTS12 57117 broad.mit.edu 37 4 106604001 106604001 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:106604001G>A ENST00000451321.2 - 7 1757 c.1278C>T c.(1276-1278)agC>agT p.S426S INTS12_ENST00000394735.1_Silent_p.S426S|INTS12_ENST00000340139.5_Silent_p.S426S NM_001142471.1 NP_001135943.1 Q96CB8 INT12_HUMAN integrator complex subunit 12 426 Ser-rich. snRNA processing integrator complex protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(123;5.12e-07) CTGAGGGAGAGCTGCTGGATT 0.458000 46 179 0 0 1 0 0 TCERG1 10915 broad.mit.edu 37 5 145838686 145838686 + Silent SNP G G A rs143032772 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:145838686G>A ENST00000296702.5 + 4 716 c.678G>A c.(676-678)caG>caA p.Q226Q TCERG1_ENST00000394421.2_Silent_p.Q226Q NM_006706.3 NP_006697.2 O14776 TCRG1_HUMAN transcription elongation regulator 1 226 Ala/Gln-rich. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1) 46 Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) cccaagcccaggcccaggctc 0.701000 17 41 0 0 1 0 0 TGFBR3 7049 broad.mit.edu 37 1 92187562 92187562 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:92187562T>C ENST00000212355.4 - 8 1490 c.1025A>G c.(1024-1026)tAc>tGc p.Y342C TGFBR3_ENST00000525962.1_Missense_Mutation_p.Y342C|TGFBR3_ENST00000370399.2_Missense_Mutation_p.Y342C NM_001195683.1|NM_003243.4 NP_001182612.1|NP_003234.2 Q03167 TGBR3_HUMAN transforming growth factor, beta receptor III 342 BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3) 55 all_lung(203;0.00719)|Lung NSC(277;0.0268) all cancers(265;0.0108)|Epithelial(280;0.0825) AGCCATTGTGTATGAAGTTAT 0.373000 13 43 0 0 1 0 0 COPS3 8533 broad.mit.edu 37 17 17150805 17150805 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:17150805A>G ENST00000539941.2 - 11 1355 c.1147T>C c.(1147-1149)Ttt>Ctt p.F383L COPS3_ENST00000439936.2_Missense_Mutation_p.F325L|COPS3_ENST00000268717.5_Missense_Mutation_p.F403L NM_001199125.1 NP_001186054.1 Q9UNS2 CSN3_HUMAN COP9 signalosome subunit 3 403 cullin deneddylation|response to light stimulus|signal transduction cytoplasm|signalosome protein binding NS(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 13 TTTTGTACAAACTGAGGGTTC 0.493000 68 233 0 0 1 0 0 PRKX 5613 broad.mit.edu 37 X 3592653 3592653 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chrX:3592653C>T ENST00000262848.5 - 2 675 c.321G>A c.(319-321)ccG>ccA p.P107P NM_005044.4 NP_005035.1 P51817 PRKX_HUMAN protein kinase, X-linked 107 Protein kinase. ATP binding|cAMP-dependent protein kinase activity kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(2) 12 all_lung(23;0.000396)|Lung NSC(23;0.00123) TGATGAGGAACGGGTGGCTGA 0.562000 30 36 0 0 1 0 0 HMHA1 23526 broad.mit.edu 37 19 1080085 1080085 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:1080085C>T ENST00000313093.2 + 13 1902 c.1671C>T c.(1669-1671)taC>taT p.Y557Y HMHA1_ENST00000590577.1_Silent_p.Y192Y|HMHA1_ENST00000539243.2_Silent_p.Y573Y|HMHA1_ENST00000590214.1_Silent_p.Y584Y|HMHA1_ENST00000536472.1_Silent_p.Y397Y|HMHA1_ENST00000586866.1_Silent_p.Y561Y|HMHA1_ENST00000543365.1_Silent_p.Y440Y NM_012292.3 NP_036424.2 Q92619 HMHA1_HUMAN histocompatibility (minor) HA-1 557 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2) 16 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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) ATGTGCACTACGACTTTGAGC 0.672000 29 75 0 0 1 0 0 LSG1 55341 broad.mit.edu 37 3 194373792 194373792 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:194373792T>C ENST00000265245.5 - 8 1153 c.839A>G c.(838-840)cAc>cGc p.H280R NM_018385.2 NP_060855.2 Q9H089 LSG1_HUMAN large 60S subunit nuclear export GTPase 1 280 nuclear export|protein transport Cajal body|endoplasmic reticulum GTP binding|hydrolase activity breast(2)|endometrium(3)|large_intestine(2)|lung(9) 16 all_cancers(143;1.68e-08)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;7.55e-06) GGATTCACTGTGGGAAATTTC 0.448000 37 100 0 0 1 0 0 PRDM2 7799 broad.mit.edu 37 1 14105907 14105907 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:14105907A>G ENST00000235372.7 + 8 2473 c.1617A>G c.(1615-1617)gtA>gtG p.V539V PRDM2_ENST00000311066.5_Silent_p.V539V|PRDM2_ENST00000343137.4_Silent_p.V338V|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000413440.1_Silent_p.V338V NM_012231.4 NP_036363.2 Q13029 PRDM2_HUMAN PR domain containing 2, with ZNF domain 539 TQNVYVPSTEPEEEGEA -> PRTCMYQAQSRRGRGSR (in Ref. 4; AAA87023). Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 55 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) ACGTGTATGTACCAAGCACAG 0.488000 11 70 0 0 1 0 0 CEP164 22897 broad.mit.edu 37 11 117280429 117280429 + Missense_Mutation SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:117280429C>A ENST00000278935.3 + 30 3991 c.3844C>A c.(3844-3846)Ctg>Atg p.L1282M CEP164_ENST00000533706.1_3'UTR NM_014956.4 NP_055771.4 Q9UPV0 CE164_HUMAN centrosomal protein 164kDa 1282 cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis centriole|cytosol|nucleus breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3) 47 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008) CCTCAGCATCCTGGACAGCCT 0.657000 104 266 7.73176e-47 8.20465e-47 1 1 0 KLK3 354 broad.mit.edu 37 19 51363282 51363282 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:51363282T>C ENST00000326003.2 + 5 726 c.685T>C c.(685-687)Tgg>Cgg p.W229R KLK3_ENST00000595952.1_Missense_Mutation_p.W186R|KLK3_ENST00000360617.3_3'UTR NM_001030047.1|NM_001030048.1|NM_001648.2 NP_001025218.1|NP_001025219.1|NP_001639.1 P07288 KLK3_HUMAN kallikrein-related peptidase 3 229 Peptidase S1. negative regulation of angiogenesis|proteolysis extracellular region serine-type endopeptidase activity breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144) TATCACGTCATGGGGCAGTGA 0.547000 39 105 0 0 1 0 0 OR2AG2 338755 broad.mit.edu 37 11 6790040 6790040 + Missense_Mutation SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:6790040G>T ENST00000338569.2 - 1 246 c.149C>A c.(148-150)aCc>aAc p.T50N NM_001004490.1 NP_001004490.1 A6NM03 O2AG2_HUMAN olfactory receptor, family 2, subfamily AG, member 2 50 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1) 28 Medulloblastoma(188;0.00776)|all_neural(188;0.0652) Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) GGCTTCTATGGTGATGGCCAG 0.527000 28 114 2.41591e-17 2.54096e-17 1 1 0 UBE3B 89910 broad.mit.edu 37 12 109948151 109948151 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:109948151A>G ENST00000342494.3 + 17 2339 c.1744A>G c.(1744-1746)Aac>Gac p.N582D UBE3B_ENST00000434735.2_Missense_Mutation_p.N582D|UBE3B_ENST00000535900.1_3'UTR|UBE3B_ENST00000280774.5_Missense_Mutation_p.N582D NM_130466.3 NP_569733.2 Q7Z3V4 UBE3B_HUMAN ubiquitin protein ligase E3B 582 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2) 45 TCCCACAGAGAACGCCAAGGG 0.582000 7 16 0 0 1 0 0 CNGA3 1261 broad.mit.edu 37 2 99012708 99012708 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:99012708T>C ENST00000393504.1 + 8 1492 c.1075T>C c.(1075-1077)Tcc>Ccc p.S359P CNGA3_ENST00000272602.2_Missense_Mutation_p.S359P|CNGA3_ENST00000409937.1_Missense_Mutation_p.S363P|CNGA3_ENST00000436404.2_Missense_Mutation_p.S341P NM_001298.2 NP_001289.1 Q16281 CNGA3_HUMAN cyclic nucleotide gated channel alpha 3 359 signal transduction|visual perception integral to membrane cGMP binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3) 49 TCTCTACTGGTCCACCTTGAC 0.502000 29 97 0 0 1 0 0 WDYHV1 55093 broad.mit.edu 37 8 124448756 124448756 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:124448756A>G ENST00000523984.1 + 4 346 c.118A>G c.(118-120)Act>Gct p.T40A WDYHV1_ENST00000523356.1_Missense_Mutation_p.T100A|WDYHV1_ENST00000518125.1_Intron|WDYHV1_ENST00000517609.1_3'UTR|WDYHV1_ENST00000287387.2_Missense_Mutation_p.T100A Q96HA8 NTAQ1_HUMAN WDYHV motif containing 1 100 protein modification process cytosol|nucleus protein binding|protein N-terminal glutamine amidohydrolase activity endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(3) 17 TGATCTCGATACTGTCTTGCC 0.388000 19 92 0 0 1 0 0 AKR1C1 1645 broad.mit.edu 37 10 5014490 5014490 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:5014490G>A ENST00000380872.4 + 6 860 c.668G>A c.(667-669)cGa>cAa p.R223Q AKR1C1_ENST00000477661.1_3'UTR|AKR1C1_ENST00000434459.2_Missense_Mutation_p.R223Q NM_001353.5 NP_001344.2 aldo-keto reductase family 1, member C1 breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(2)|ovary(3)|prostate(1) 13 GGATCCCACCGAGAAGAACCA 0.408000 15 39 0 0 1 0 0 P2RY8 286530 broad.mit.edu 37 X 1584920 1584920 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chrX:1584920C>T ENST00000381297.4 - 2 742 c.532G>A c.(532-534)Gtc>Atc p.V178I NM_178129.4 NP_835230.1 Q86VZ1 P2RY8_HUMAN purinergic receptor P2Y, G-protein coupled, 8 178 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1) 23 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) CACTTGAGGACGTCGAAGCAG 0.642000 T CRLF2 """B-ALL, Downs associated ALL""" 4 61 0 0 1 0 0 ZNF114 163071 broad.mit.edu 37 19 48789363 48789363 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:48789363A>G ENST00000595607.1 + 6 976 c.482A>G c.(481-483)aAt>aGt p.N161S ZNF114_ENST00000315849.1_Missense_Mutation_p.N161S|ZNF114_ENST00000597695.1_Missense_Mutation_p.N127S|ZNF114_ENST00000600687.1_Missense_Mutation_p.N161S Q8NC26 ZN114_HUMAN zinc finger protein 114 161 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(6)|lung(11) 18 all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153) TTCAAGTATAATCCTGTCTTA 0.428000 31 58 0 0 1 0 0 SPEN 23013 broad.mit.edu 37 1 16245473 16245473 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:16245473A>G ENST00000375759.3 + 7 1652 c.1448A>G c.(1447-1449)tAc>tGc p.Y483C NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 483 RRM 3. interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) TTTCTGCAATACTGTGATATT 0.328000 15 42 0 0 1 0 0 CHD9 80205 broad.mit.edu 37 16 53330939 53330939 + Missense_Mutation SNP G G C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:53330939G>C ENST00000566029.1 + 30 5791 c.5582G>C c.(5581-5583)aGa>aCa p.R1861T CHD9_ENST00000564845.1_Missense_Mutation_p.R1861T|CHD9_ENST00000447540.1_Missense_Mutation_p.R1861T|CHD9_ENST00000398510.3_Missense_Mutation_p.R1861T Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 1861 cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 78 all_cancers(37;0.0212) GACCCTGACAGAGGCCAATTT 0.353000 35 113 0 0 1 0 0 DPF1 8193 broad.mit.edu 37 19 38713318 38713318 + Missense_Mutation SNP G G C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:38713318G>C ENST00000416611.1 - 2 186 c.63C>G c.(61-63)atC>atG p.I21M DPF1_ENST00000355526.4_Missense_Mutation_p.I47M|DPF1_ENST00000420980.2_Missense_Mutation_p.I47M|DPF1_ENST00000412732.1_De_novo_Start_InFrame|DPF1_ENST00000456296.1_Missense_Mutation_p.I21M|DPF1_ENST00000414789.1_De_novo_Start_InFrame Q92782 DPF1_HUMAN D4, zinc and double PHD fingers family 1 47 induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nBAF complex zinc ion binding large_intestine(1)|lung(4)|ovary(1)|skin(1) 7 all_cancers(60;1.24e-06) Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) GGCAGTGCTCGATGGCCTCGC 0.692000 7 21 0 0 1 0 0 GSS 2937 broad.mit.edu 37 20 33517351 33517351 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:33517351T>C ENST00000216951.2 - 12 1252 c.1154A>G c.(1153-1155)cAg>cGg p.Q385R GSS_ENST00000451957.2_Missense_Mutation_p.Q274R|GSS_ENST00000541098.1_Missense_Mutation_p.Q257R NM_000178.2 NP_000169.1 P48637 GSHB_HUMAN glutathione synthetase 385 nervous system development|response to oxidative stress|xenobiotic metabolic process cytosol ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1) 17 BRCA - Breast invasive adenocarcinoma(18;0.035) Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151) GTCCTTCAGCTGTTTCAGGGC 0.562000 8 361 0 0 1 0 0 DNAJB12 54788 broad.mit.edu 37 10 74104736 74104736 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:74104736T>C ENST00000338820.3 - 2 534 c.385A>G c.(385-387)Act>Gct p.T129A DNAJB12_ENST00000461919.1_Intron|DNAJB12_ENST00000444643.2_Missense_Mutation_p.T95A|DNAJB12_ENST00000394903.2_Missense_Mutation_p.T129A NM_001002762.2 NP_001002762.2 Q9NXW2 DJB12_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 12 95 J. protein folding endoplasmic reticulum|integral to membrane heat shock protein binding|unfolded protein binding endometrium(1)|large_intestine(2)|skin(1) 4 TGTTCTGCAGTGTAGCCTTTG 0.607000 126 411 0 0 1 0 0 PYCR2 29920 broad.mit.edu 37 1 226109591 226109591 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:226109591G>A ENST00000343818.6 - 4 655 c.507C>T c.(505-507)gcC>gcT p.A169A RP4-559A3.7_ENST00000432920.2_Intron|PYCR2_ENST00000478402.1_5'UTR NM_013328.2 NP_037460.2 Q96C36 P5CR2_HUMAN pyrroline-5-carboxylate reductase family, member 2 169 proline biosynthetic process cytoplasm binding|pyrroline-5-carboxylate reductase activity kidney(1)|lung(3) 4 Breast(184;0.197) L-Proline(DB00172)|NADH(DB00157) GCCCCGTGACGGCATCGATGA 0.647000 8 21 0 0 1 0 0 GMEB2 26205 broad.mit.edu 37 20 62224425 62224425 + Silent SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:62224425A>T ENST00000266068.1 - 6 1108 c.630T>A c.(628-630)tcT>tcA p.S210S GMEB2_ENST00000370069.1_Silent_p.S159S|GMEB2_ENST00000370077.1_Silent_p.S210S Q9UKD1 GMEB2_HUMAN glucocorticoid modulatory element binding protein 2 210 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|metal ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1) 18 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114) TGGTCGCAGGAGACCCATTCA 0.597000 3 19 0 0 1 0 0 HNRNPA3 220988 broad.mit.edu 37 2 178080345 178080345 + Missense_Mutation SNP T T A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:178080345T>A ENST00000411529.2 + 2 136 c.85T>A c.(85-87)Tta>Ata p.L29I HNRNPA3_ENST00000392524.2_Missense_Mutation_p.L51I|HNRNPA3_ENST00000435711.1_Missense_Mutation_p.L51I NM_194247.2 NP_919223.1 P51991 ROA3_HUMAN heterogeneous nuclear ribonucleoprotein A3 51 catalytic step 2 spliceosome|nucleolus|nucleoplasm nucleotide binding|protein binding|RNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|urinary_tract(1) 16 AGATGATAGTTTACGAGAACA 0.438000 18 118 0 0 1 0 0 CHRNA9 55584 broad.mit.edu 37 4 40339350 40339350 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:40339350G>A ENST00000310169.2 + 3 473 c.334G>A c.(334-336)Gtg>Atg p.V112M CHRNA9_ENST00000502377.1_3'UTR NM_017581.3 NP_060051.2 Q9UGM1 ACHA9_HUMAN cholinergic receptor, nicotinic, alpha 9 (neuronal) 112 elevation of cytosolic calcium ion concentration|synaptic transmission cell junction|postsynaptic membrane calcium channel activity|receptor activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1) 33 Nicotine(DB00184) CAGTGACCTCGTGTGGAGGCC 0.468000 15 55 0 0 1 0 0 POP1 10940 broad.mit.edu 37 8 99146774 99146774 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:99146774T>C ENST00000401707.2 + 7 979 c.898T>C c.(898-900)Tat>Cat p.Y300H POP1_ENST00000349693.3_Missense_Mutation_p.Y300H NM_001145860.1|NM_001145861.1 NP_001139332.1|NP_001139333.1 Q99575 POP1_HUMAN processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) 300 tRNA 5'-leader removal|tRNA catabolic process nucleolar ribonuclease P complex|ribonuclease MRP complex identical protein binding|ribonuclease MRP activity|ribonuclease P activity autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 Breast(36;1.78e-06) OV - Ovarian serous cystadenocarcinoma(57;0.145) GGTGAATAAATATCCCAGAGA 0.517000 34 104 0 0 1 0 0 PMS1 5378 broad.mit.edu 37 2 190660580 190660580 + Missense_Mutation SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:190660580A>T ENST00000441310.2 + 3 451 c.218A>T c.(217-219)tAc>tTc p.Y73F PMS1_ENST00000409823.3_Missense_Mutation_p.Y73F|PMS1_ENST00000418224.3_5'UTR|PMS1_ENST00000432292.3_Intron|PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000409985.1_Missense_Mutation_p.Y73F|PMS1_ENST00000374826.4_Missense_Mutation_p.Y73F|PMS1_ENST00000447232.2_Missense_Mutation_p.Y73F NM_000534.4 NP_000525.1 P54277 PMS1_HUMAN PMS1 postmeiotic segregation increased 1 (S. cerevisiae) 73 mismatch repair|reciprocal meiotic recombination MutLalpha complex ATP binding|ATPase activity|mismatched DNA binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751) GCAATGAAGTACTACACCTCA 0.383000 """Mis, N""" """colorectal, endometrial, ovarian""" Direct reversal of damage;Mismatch excision repair (MMR) 24 76 0 0 1 0 0 TRPV4 59341 broad.mit.edu 37 12 110240845 110240845 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:110240845G>A ENST00000418703.2 - 3 757 c.663C>T c.(661-663)ggC>ggT p.G221G TRPV4_ENST00000541794.1_Silent_p.G221G|TRPV4_ENST00000392719.2_Silent_p.G221G|TRPV4_ENST00000346520.2_Silent_p.G221G|TRPV4_ENST00000261740.2_Silent_p.G221G|TRPV4_ENST00000537083.1_Silent_p.G221G|TRPV4_ENST00000536838.1_Silent_p.G187G|TRPV4_ENST00000544971.1_Silent_p.G221G NM_001177431.1 NP_001170902.1 Q9HBA0 TRPV4_HUMAN transient receptor potential cation channel, subfamily V, member 4 221 actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1) 35 CCCTCATGTTGCCGGTGCGCT 0.632000 16 63 0 0 1 0 0 KDM4B 23030 broad.mit.edu 37 19 5039883 5039883 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:5039883T>C ENST00000159111.4 + 4 396 c.178T>C c.(178-180)Tat>Cat p.Y60H KDM4B_ENST00000536461.1_Missense_Mutation_p.Y60H|KDM4B_ENST00000381759.4_Missense_Mutation_p.Y60H NM_015015.2 NP_055830.1 O94953 KDM4B_HUMAN lysine (K)-specific demethylase 4B 60 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 GCGGCAGACGTATGATGACAT 0.612000 22 121 0 0 1 0 0 SAP30L 79685 broad.mit.edu 37 5 153832994 153832994 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:153832994A>G ENST00000297109.6 + 3 1005 c.357A>G c.(355-357)ctA>ctG p.L119L SAP30L_ENST00000523198.1_3'UTR|SAP30L_ENST00000440364.2_Silent_p.L78L|SAP30L_ENST00000426761.2_Silent_p.L73L NM_024632.5 NP_078908.1 Q9HAJ7 SP30L_HUMAN SAP30-like 119 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|metal ion binding breast(1)|lung(3) 4 Renal(175;0.00488) Medulloblastoma(196;0.0523) Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577) TGAACACCCTACGACGTTATA 0.483000 21 78 0 0 1 0 0 MRE11A 4361 broad.mit.edu 37 11 94179035 94179035 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:94179035G>A ENST00000323929.3 - 16 2030 c.1808C>T c.(1807-1809)aCc>aTc p.T603I MRE11A_ENST00000407439.3_Missense_Mutation_p.T606I|MRE11A_ENST00000323977.3_Intron|MRE11A_ENST00000393241.4_Missense_Mutation_p.T602I NM_005591.3 NP_005582.1 P49959 MRE11_HUMAN MRE11 meiotic recombination 11 homolog A (S. cerevisiae) 603 DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase Mre11 complex|nucleoplasm 3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 29 Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824) CCTGCTACGGGTAGAAGTCTC 0.363000 Homologous recombination Ataxia-Telangiectasia-Like Disorder 6 124 0 0 1 0 0 CCDC67 159989 broad.mit.edu 37 11 93088587 93088587 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:93088587T>C ENST00000298050.3 + 3 180 c.80T>C c.(79-81)aTc>aCc p.I27T CCDC67_ENST00000530053.1_3'UTR|CCDC67_ENST00000527307.1_Missense_Mutation_p.I27T NM_181645.3 NP_857596.2 Q05D60 CCD67_HUMAN coiled-coil domain containing 67 27 endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824) CAAATTGACATCATGGTAAGC 0.388000 5 108 0 0 1 0 0 ZFYVE26 23503 broad.mit.edu 37 14 68219108 68219108 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:68219108T>C ENST00000347230.4 - 40 7462 c.7324A>G c.(7324-7326)Acc>Gcc p.T2442A ZFYVE26_ENST00000557306.1_Missense_Mutation_p.T288A NM_015346.3 NP_056161.2 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 2442 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 94 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) AGGAGGATGGTGTCCCCGTCA 0.537000 4 21 0 0 1 0 0 MICA 100507436 broad.mit.edu 37 6 31379009 31379009 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:31379009C>T ENST00000449934.2 + 3 540 c.486C>T c.(484-486)gcC>gcT p.A162A HCP5_ENST00000414046.2_RNA NM_001177519.1 NP_001170990.1 Q29983 MICA_HUMAN MHC class I polypeptide-related sequence A 162 antigen processing and presentation|cytolysis|defense response to bacterium|defense response to virus|gamma-delta T cell activation|immune response to tumor cell|response to DNA damage stimulus|response to heat|stimulatory C-type lectin receptor signaling pathway cell surface|cytoplasm|extracellular space|integral to plasma membrane|MHC class I protein complex natural killer cell lectin-like receptor binding breast(1)|endometrium(3)|kidney(1) 5 Ovarian(999;0.0253) AGACCTTGGCCATGAACGTCA 0.522000 5 24 0 0 1 0 0 CRHR1 1394 broad.mit.edu 37 17 43912149 43912149 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:43912149A>G ENST00000339069.5 + 13 1459 c.828A>G c.(826-828)gcA>gcG p.A276A CRHR1_ENST00000314537.5_3'UTR|CRHR1_ENST00000398285.3_3'UTR P34998 CRFR1_HUMAN corticotropin releasing hormone receptor 1 0 female pregnancy|immune response|parturition integral to plasma membrane corticotrophin-releasing factor receptor activity|protein binding NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1) 24 Colorectal(2;0.0416) BRCA - Breast invasive adenocarcinoma(366;0.161) GTCATGGAGCAGCCCCCAAAG 0.642000 16 55 0 0 1 0 0 BRCC3 79184 broad.mit.edu 37 X 154305515 154305515 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chrX:154305515G>A ENST00000369462.1 + 4 291 c.266G>A c.(265-267)cGa>cAa p.R89Q BRCC3_ENST00000369459.2_Missense_Mutation_p.R89Q|BRCC3_ENST00000340647.4_Missense_Mutation_p.R90Q|MTCP1_ENST00000362018.2_Intron|BRCC3_ENST00000330045.7_Missense_Mutation_p.R89Q|BRCC3_ENST00000399042.1_Missense_Mutation_p.R89Q NM_024332.3 NP_077308.1 P46736 BRCC3_HUMAN BRCA1/BRCA2-containing complex, subunit 3 89 double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|positive regulation of DNA repair|response to X-ray BRCA1-A complex|BRISC complex|nuclear ubiquitin ligase complex enzyme regulator activity|metal ion binding|metallopeptidase activity|polyubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|skin(1) 22 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) AGGAAGGACCGAGTAGAAATT 0.443000 23 31 0 0 1 0 0 NEK1 4750 broad.mit.edu 37 4 170322898 170322898 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:170322898T>C ENST00000439128.2 - 31 4044 c.3404A>G c.(3403-3405)aAc>aGc p.N1135S NEK1_ENST00000510533.1_Missense_Mutation_p.N1091S|NEK1_ENST00000507142.1_Missense_Mutation_p.N1163S|NEK1_ENST00000512193.1_Missense_Mutation_p.N1066S|NEK1_ENST00000511633.1_Missense_Mutation_p.N1119S NM_012224.2 NP_036356.1 Q96PY6 NEK1_HUMAN NIMA-related kinase 1 1135 cell division|cilium assembly|mitosis nucleus|pericentriolar material ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1) 45 Prostate(90;0.00601)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14) CACATCACTGTTCTTCAAGAC 0.473000 7 258 0 0 1 0 0 DNAH1 25981 broad.mit.edu 37 3 52417479 52417479 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:52417479C>T ENST00000420323.2 + 51 8280 c.8019C>T c.(8017-8019)gaC>gaT p.D2673D NM_015512.4 NP_056327.4 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 2673 AAA 4 (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) ATACTGCGGACGAGCAGGACC 0.557000 16 38 0 0 1 0 0 SH3BP4 23677 broad.mit.edu 37 2 235951562 235951562 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:235951562A>G ENST00000409212.1 + 4 2656 c.2149A>G c.(2149-2151)Aag>Gag p.K717E SH3BP4_ENST00000392011.2_Missense_Mutation_p.K717E|SH3BP4_ENST00000344528.4_Missense_Mutation_p.K717E Q9P0V3 SH3B4_HUMAN SH3-domain binding protein 4 717 endocytosis clathrin-coated vesicle|coated pit|nucleus protein binding central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2) 44 Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419) Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237) CGTGCACACCAAGAACGTGCT 0.687000 25 86 0 0 1 0 0 ECT2L 345930 broad.mit.edu 37 6 139222228 139222228 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:139222228T>C ENST00000423192.1 + 20 2719 c.2558T>C c.(2557-2559)tTa>tCa p.L853S ECT2L_ENST00000541398.1_Missense_Mutation_p.L707S|ECT2L_ENST00000367682.2_Missense_Mutation_p.L853S Q008S8 ECT2L_HUMAN epithelial cell transforming sequence 2 oncogene-like 853 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1) 30 CTTCATCGGTTACTCATAGAA 0.403000 """N, Splice, Mis""" ETP ALL 6 121 0 0 1 0 0 ADAM12 8038 broad.mit.edu 37 10 127731634 127731634 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:127731634T>C ENST00000368679.4 - 18 2397 c.2088A>G c.(2086-2088)acA>acG p.T696T ADAM12_ENST00000368676.4_Silent_p.T696T NM_003474.4 NP_003465.3 O43184 ADA12_HUMAN ADAM metallopeptidase domain 12 696 cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216) GGCCGCTGTCTGTGCTTCCTC 0.637000 11 45 0 0 1 0 0 CHRNA2 1135 broad.mit.edu 37 8 27321457 27321457 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:27321457G>A ENST00000407991.1 - 6 1111 c.503C>T c.(502-504)aCg>aTg p.T168M CHRNA2_ENST00000520933.2_Missense_Mutation_p.T168M|CHRNA2_ENST00000240132.2_Missense_Mutation_p.T153M NM_000742.3 NP_000733.2 Q15822 ACHA2_HUMAN cholinergic receptor, nicotinic, alpha 2 (neuronal) 168 cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 23 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136) Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199) CACAGTGCCCGTGGAGAAGAG 0.597000 34 119 0 0 1 0 0 ARHGEF3 50650 broad.mit.edu 37 3 56771216 56771216 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:56771216G>A ENST00000413728.2 - 8 1599 c.1056C>T c.(1054-1056)ggC>ggT p.G352G ARHGEF3_ENST00000496106.1_Silent_p.G352G|ARHGEF3_ENST00000338458.4_Silent_p.G378G|ARHGEF3_ENST00000296315.3_Silent_p.G346G|ARHGEF3_ENST00000497267.1_Silent_p.G317G|ARHGEF3_ENST00000495373.1_Silent_p.G346G NM_001128616.1 NP_001122088.1 Q9NR81 ARHG3_HUMAN Rho guanine nucleotide exchange factor (GEF) 3 346 PH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction cytosol Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1) 25 KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193) TACTTACCACGCCCCGATTGT 0.473000 34 112 0 0 1 0 0 SULF2 55959 broad.mit.edu 37 20 46292235 46292235 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:46292235T>C ENST00000359930.4 - 16 3040 c.2189A>G c.(2188-2190)cAc>cGc p.H730R SULF2_ENST00000361612.4_Missense_Mutation_p.H730R|SULF2_ENST00000467815.1_Missense_Mutation_p.H730R|SULF2_ENST00000484875.1_Missense_Mutation_p.H730R NM_018837.3 NP_061325.1 Q8IWU5 SULF2_HUMAN sulfatase 2 730 bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 CTGGTTGTCGTGGGTGAAGCA 0.612000 OREG0026005 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 50 122 0 0 1 0 0 DAG1 1605 broad.mit.edu 37 3 49569252 49569252 + Silent SNP G G A rs143763229 byFrequency TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:49569252G>A ENST00000545947.1 + 6 2030 c.1308G>A c.(1306-1308)acG>acA p.T436T DAG1_ENST00000538711.1_Silent_p.T436T|DAG1_ENST00000515359.2_Silent_p.T436T|DAG1_ENST00000541308.1_Silent_p.T436T|DAG1_ENST00000539901.1_Silent_p.T436T|DAG1_ENST00000308775.2_Silent_p.T436T NM_001177634.2 NP_001171105.1 Q14118 DAG1_HUMAN dystroglycan 1 (dystrophin-associated glycoprotein 1) 436 Mucin-like domain.|Thr-rich. cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1) 23 BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) AACCAGCAACGCCTTCAACTG 0.577000 27 121 0 0 1 0 0 TOMM70A 9868 broad.mit.edu 37 3 100087929 100087929 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:100087929T>C ENST00000284320.5 - 10 1951 c.1503A>G c.(1501-1503)aaA>aaG p.K501K NM_014820.4 NP_055635.3 O94826 TOM70_HUMAN translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae) 501 protein targeting to mitochondrion integral to membrane|mitochondrial outer membrane translocase complex protein binding|protein transmembrane transporter activity endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 32 AATCAATACATTTATCATACA 0.313000 20 74 0 0 1 0 0 OR7A5 26659 broad.mit.edu 37 19 14938707 14938707 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:14938707G>A ENST00000322301.3 - 2 434 c.347C>T c.(346-348)tCc>tTc p.S116F OR7A5_ENST00000601611.1_Intron|OR7A5_ENST00000594432.1_Missense_Mutation_p.S116F Q15622 OR7A5_HUMAN olfactory receptor, family 7, subfamily A, member 5 116 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 GGCCATCACGGACAGGAGGAA 0.478000 41 91 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141643877 141643877 + Missense_Mutation SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:141643877G>T ENST00000389484.3 - 24 4765 c.3794C>A c.(3793-3795)tCt>tAt p.S1265Y NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 1265 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ATGACGAATAGAAAAGATGAT 0.308000 TSP Lung(27;0.18) 14 34 0.000219431 0.000222589 1 1 0 OR5D13 390142 broad.mit.edu 37 11 55541197 55541197 + Missense_Mutation SNP C C G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:55541197C>G ENST00000361760.1 + 1 284 c.284C>G c.(283-285)tCt>tGt p.S95C NM_001001967.1 NP_001001967.1 Q8NGL4 OR5DD_HUMAN olfactory receptor, family 5, subfamily D, member 13 95 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1) 40 all_epithelial(135;0.196) AGAACCATCTCTTTCTCTGGT 0.403000 54 145 0 0 1 0 0 PLCL1 5334 broad.mit.edu 37 2 198953648 198953648 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:198953648T>C ENST00000428675.1 + 3 3180 c.2782T>C c.(2782-2784)Tta>Cta p.L928L PLCL1_ENST00000437704.2_Silent_p.L830L NM_006226.3 NP_006217.3 Q15111 PLCL1_HUMAN phospholipase C-like 1 928 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Quinacrine(DB01103) GCAGTGCCTGTTAACTCTGTC 0.463000 148 415 0 0 1 0 0 ANKHD1 54882 broad.mit.edu 37 5 139918959 139918959 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:139918959T>C ENST00000360839.2 + 34 7739 c.7585T>C c.(7585-7587)Tgg>Cgg p.W2529R ANKHD1_ENST00000297183.6_Intron|ANKHD1-EIF4EBP3_ENST00000532219.1_Intron|ANKHD1_ENST00000544120.1_Missense_Mutation_p.W853R NM_017747.2 NP_060217.1 ankyrin repeat and KH domain containing 1 breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCTGGCACGTGGGCACCTCA 0.363000 48 147 0 0 1 0 0 GJB4 127534 broad.mit.edu 37 1 35226920 35226920 + Missense_Mutation SNP G G A rs80358212 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:35226920G>A ENST00000339480.1 + 2 435 c.65G>A c.(64-66)cGc>cAc p.R22H NM_153212.2 NP_694944.1 Q9NTQ9 CXB4_HUMAN gap junction protein, beta 4, 30.3kDa 22 cell communication connexon complex|integral to membrane gap junction channel activity p.R22L(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1) 16 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234) GTGCTGAGCCGCATCTGGCTG 0.577000 14 40 0 0 1 0 0 SMDT1 91689 broad.mit.edu 37 22 42477930 42477930 + Splice_Site SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr22:42477930T>C ENST00000331479.3 + 2 262 c.186_splice c.e2-1 p.M63_splice SMDT1_ENST00000547929.1_Intron NM_033318.4 NP_201575.3 single-pass membrane protein with aspartate-rich tail 1 CCTCTGCAGATGTCCTTCGGC 0.532000 14 63 0 0 1 0 0 KNTC1 9735 broad.mit.edu 37 12 123089166 123089166 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:123089166A>G ENST00000333479.7 + 49 5334 c.5157A>G c.(5155-5157)ctA>ctG p.L1719L KNTC1_ENST00000436959.3_5'UTR|KNTC1_ENST00000537348.1_Silent_p.L144L|KNTC1_ENST00000450485.2_Intron NM_014708.4 NP_055523.1 P50748 KNTC1_HUMAN kinetochore associated 1 1719 cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole protein binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 72 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217) AGAGATGGCTACAGAATATCC 0.343000 14 49 0 0 1 0 0 SCN2A 6326 broad.mit.edu 37 2 166164384 166164384 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:166164384C>T ENST00000375437.2 + 4 703 c.413C>T c.(412-414)aCg>aTg p.T138M SCN2A_ENST00000283256.6_Missense_Mutation_p.T138M|SCN2A_ENST00000375427.2_Missense_Mutation_p.T138M|SCN2A_ENST00000357398.3_Missense_Mutation_p.T138M NM_001040142.1 NP_001035232.1 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 138 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) ATTATGTGCACGATTCTTACC 0.353000 39 169 0 0 1 0 0 TMPPE 643853 broad.mit.edu 37 3 33135624 33135624 + Missense_Mutation SNP C C T rs149442180 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:33135624C>T ENST00000342462.4 - 2 254 c.64G>A c.(64-66)Gtg>Atg p.V22M GLB1_ENST00000307377.8_Intron|TMPPE_ENST00000416695.2_Intron|GLB1_ENST00000307363.5_Intron|GLB1_ENST00000399402.3_Intron|GLB1_ENST00000445488.2_Intron NM_001039770.2 NP_001034859.2 Q6ZT21 TMPPE_HUMAN transmembrane protein with metallophosphoesterase domain 22 integral to membrane metal ion binding breast(1)|large_intestine(5)|lung(6)|prostate(1) 13 ATCATGGACACGAAGACAGTG 0.597000 20 101 0 0 1 0 0 IGSF22 283284 broad.mit.edu 37 11 18735645 18735645 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:18735645T>C ENST00000513874.1 - 14 1988 c.1849A>G c.(1849-1851)Atc>Gtc p.I617V RP11-1081L13.4_ENST00000527285.1_RNA NM_173588.3 NP_775859.3 Q8N9C0 IGS22_HUMAN immunoglobulin superfamily, member 22 617 Ig-like 4. NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3) 56 TTCACAGTGATGGCGTGCGCA 0.612000 35 101 0 0 1 0 0 DENND4B 9909 broad.mit.edu 37 1 153909067 153909067 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:153909067T>C ENST00000361217.4 - 16 2808 c.2390A>G c.(2389-2391)tAc>tGc p.Y797C NM_014856.2 NP_055671.2 O75064 DEN4B_HUMAN DENN/MADD domain containing 4B 797 NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 36 all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) CAGCACATGGTAGGCTGTGTG 0.627000 11 25 0 0 1 0 0 DOCK7 85440 broad.mit.edu 37 1 62962079 62962079 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:62962079A>G ENST00000251157.5 - 38 4860 c.4827T>C c.(4825-4827)cgT>cgC p.R1609R DOCK7_ENST00000340370.5_Silent_p.R1587R NM_001271999.1 NP_001258928.1 Q96N67 DOCK7_HUMAN dedicator of cytokinesis 7 1618 DHR-2. activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation axon|basal part of cell|growth cone GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 92 TCTTTAGAGAACGTCTTAAGA 0.373000 13 51 0 0 1 0 0 MYT1L 23040 broad.mit.edu 37 2 1926967 1926967 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:1926967C>T ENST00000399161.2 - 10 1321 c.574G>A c.(574-576)Gac>Aac p.D192N MYT1L_ENST00000428368.2_Missense_Mutation_p.D192N NM_015025.2 NP_055840.2 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 192 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) TCATATTCGTCATTATTGTTA 0.383000 6 19 0 0 1 0 0 HERC2 8924 broad.mit.edu 37 15 28420789 28420789 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:28420789A>G ENST00000261609.7 - 64 9808 c.9700T>C c.(9700-9702)Tac>Cac p.Y3234H NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 3234 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) AATCTGAAGTAATCCCCCTTT 0.532000 19 41 0 0 1 0 0 GRID1 2894 broad.mit.edu 37 10 87379725 87379725 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:87379725A>G ENST00000327946.7 - 14 2344 c.2259T>C c.(2257-2259)gaT>gaC p.D753D GRID1_ENST00000536331.1_Silent_p.D324D NM_017551.2 NP_060021.1 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 753 cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5) 106 L-Glutamic Acid(DB00142) AGCAGTCGTCATCCGTCAGGG 0.562000 Multiple Myeloma(13;0.14) 20 59 0 0 1 0 0 MTG2 26164 broad.mit.edu 37 20 60774252 60774252 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:60774252G>A ENST00000370823.3 + 6 783 c.765G>A c.(763-765)ccG>ccA p.P255P MTG2_ENST00000436421.2_Intron|MTG2_ENST00000536470.1_Silent_p.P27P NM_015666.3 NP_056481.1 mitochondrial ribosome-associated GTPase 2 CTTCCTACCCGTTCACCACCC 0.562000 19 39 0 0 1 0 0 NRIP1 8204 broad.mit.edu 37 21 16338609 16338609 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr21:16338609T>C ENST00000400202.1 - 3 2617 c.1905A>G c.(1903-1905)gcA>gcG p.A635A NRIP1_ENST00000400199.1_Silent_p.A635A|NRIP1_ENST00000318948.4_Silent_p.A635A P48552 NRIP1_HUMAN nuclear receptor interacting protein 1 635 Repression domain 2. androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 39 Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24) TTCCACATTGTGCTAAATTTT 0.428000 33 95 0 0 1 0 0 OPRL1 4987 broad.mit.edu 37 20 62729402 62729402 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:62729402G>A ENST00000349451.3 + 5 893 c.481G>A c.(481-483)Gtc>Atc p.V161I OPRL1_ENST00000336866.2_Missense_Mutation_p.V161I|OPRL1_ENST00000355631.4_Missense_Mutation_p.V161I NM_001200019.1 NP_001186948.1 P41146 OPRX_HUMAN opiate receptor-like 1 161 elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception integral to plasma membrane protein binding|X-opioid receptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1) 19 all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08) TGCCCTCGACGTCCGCACGTC 0.587000 33 94 0 0 1 0 0 GGA1 26088 broad.mit.edu 37 22 38026098 38026098 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr22:38026098A>G ENST00000406772.1 + 14 1685 c.1033A>G c.(1033-1035)Agc>Ggc p.S345G GGA1_ENST00000343632.4_Missense_Mutation_p.S418G|GGA1_ENST00000337437.4_Missense_Mutation_p.S385G|GGA1_ENST00000325180.8_Missense_Mutation_p.S331G|GGA1_ENST00000381756.5_Missense_Mutation_p.S435G NM_001172688.1 NP_001166159.1 Q9UJY5 GGA1_HUMAN golgi-associated, gamma adaptin ear containing, ARF binding protein 1 418 Unstructured hinge. intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|endosome membrane|Golgi apparatus part protein binding breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1) 10 Melanoma(58;0.0574) GCCAGCAAGCAGCGGTCTGGA 0.682000 32 108 0 0 1 0 0 GTF3C3 9330 broad.mit.edu 37 2 197639891 197639891 + Missense_Mutation SNP C C G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:197639891C>G ENST00000263956.3 - 13 1869 c.1780G>C c.(1780-1782)Gac>Cac p.D594H NM_012086.4 NP_036218.1 Q9Y5Q9 TF3C3_HUMAN general transcription factor IIIC, polypeptide 3, 102kDa 594 transcription factor TFIIIC complex DNA binding|protein binding breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 GATATTTTGTCTCTCGATACT 0.338000 12 48 0 0 1 0 0 GPATCH1 55094 broad.mit.edu 37 19 33604771 33604771 + Missense_Mutation SNP C C T rs139888183 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:33604771C>T ENST00000170564.2 + 14 2305 c.1991C>T c.(1990-1992)gCa>gTa p.A664V NM_018025.2 NP_060495.2 Q9BRR8 GPTC1_HUMAN G patch domain containing 1 664 catalytic step 2 spliceosome nucleic acid binding breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4) 40 Esophageal squamous(110;0.137) ACCACTCAAGCATCAAGTGAA 0.527000 9 43 0 0 1 0 0 PRKCD 5580 broad.mit.edu 37 3 53213631 53213631 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:53213631T>C ENST00000394729.2 + 3 482 c.154T>C c.(154-156)Tat>Cat p.Y52H PRKCD_ENST00000330452.3_Missense_Mutation_p.Y52H NM_212539.1 NP_997704.1 Q05655 KPCD_HUMAN protein kinase C, delta 52 C2. activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction cytosol|endoplasmic reticulum|nucleoplasm ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Ovarian(412;0.0728) OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173) GCCGACCATGTATCCTGAGTG 0.582000 11 20 0 0 1 0 0 DHX37 57647 broad.mit.edu 37 12 125434989 125434989 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:125434989G>A ENST00000308736.2 - 23 3189 c.3091C>T c.(3091-3093)Cgg>Tgg p.R1031W DHX37_ENST00000544745.1_Missense_Mutation_p.R818W NM_032656.3 NP_116045.2 Q8IY37 DHX37_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 37 1031 ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3) 65 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653) CACAGCACCCGCCCCCGCTCG 0.657000 8 50 0 0 1 0 0 RIMBP3 85376 broad.mit.edu 37 22 20457913 20457913 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr22:20457913G>A ENST00000426804.1 - 1 3873 c.3389C>T c.(3388-3390)gCa>gTa p.A1130V NM_015672.1 NP_056487.1 RIMS binding protein 3 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 13 Colorectal(54;0.0993)|Melanoma(16;0.165) LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224) AAGCCCATCTGCATACACAGC 0.582000 5 32 0 0 1 0 0 CENPV 201161 broad.mit.edu 37 17 16256481 16256481 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:16256481C>T ENST00000299736.4 - 1 332 c.270G>A c.(268-270)ccG>ccA p.P90P CENPV_ENST00000476243.1_5'UTR NM_181716.2 NP_859067.2 Q7Z7K6 CENPV_HUMAN centromere protein V 93 Pro-rich. cell division|centromeric heterochromatin formation|mitosis|positive regulation of cytokinesis|regulation of chromosome organization condensed chromosome kinetochore|cytoplasm|nucleus|spindle midzone carbon-sulfur lyase activity endometrium(1)|large_intestine(2) 3 gcggcggcggcggcggtggcg 0.776000 5 12 0 0 1 0 0 HK3 3101 broad.mit.edu 37 5 176316708 176316708 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:176316708G>A ENST00000292432.5 - 7 759 c.668C>T c.(667-669)aCa>aTa p.T223I NM_002115.2 NP_002106.2 P52790 HXK3_HUMAN hexokinase 3 (white cell) 223 Regulatory. glucose transport|glycolysis|transmembrane transport cytosol|membrane ATP binding|glucokinase activity breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GGTGCCCACTGTGTCGTTCAC 0.592000 5 97 0 0 1 0 0 TPCN2 219931 broad.mit.edu 37 11 68822243 68822243 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:68822243T>C ENST00000294309.3 + 3 330 c.229T>C c.(229-231)Tat>Cat p.Y77H TPCN2_ENST00000542467.1_Missense_Mutation_p.Y77H NM_139075.3 NP_620714.2 Q8NHX9 TPC2_HUMAN two pore segment channel 2 77 cellular calcium ion homeostasis|smooth muscle contraction endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1) 32 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) TTACCGACGGTATTACTCGAA 0.592000 8 28 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216498739 216498739 + Missense_Mutation SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:216498739C>A ENST00000366943.2 - 6 1437 c.1051G>T c.(1051-1053)Ggt>Tgt p.G351C USH2A_ENST00000307340.3_Missense_Mutation_p.G351C|USH2A_ENST00000366942.3_Missense_Mutation_p.G351C O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 351 Laminin N-terminal. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CATGAAGTACCAACATCATTA 0.388000 HNSCC(13;0.011) 16 76 1.02788e-11 1.06863e-11 1 1 0 LYRM4 57128 broad.mit.edu 37 6 5109669 5109669 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:5109669C>T ENST00000330636.4 - 3 469 c.264G>A c.(262-264)atG>atA p.M88I LYRM4_ENST00000464010.1_3'UTR|LYRM4_ENST00000468929.1_3'UTR NM_020408.4 NP_065141.3 Q9HD34 LYRM4_HUMAN LYR motif containing 4 88 mitochondrion|nucleus endometrium(1) 1 Ovarian(93;0.11) all_hematologic(90;0.0901) AGGTCCTGGGCATGTCTCGAT 0.552000 7 198 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72829090 72829090 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:72829090C>T ENST00000268489.5 - 9 8163 c.7491G>A c.(7489-7491)tcG>tcA p.S2497S ZFHX3_ENST00000397992.5_Silent_p.S1583S NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 2497 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) GACTGGGGCTCGACTGGGGTA 0.632000 25 73 0 0 1 0 0 EPS8L1 54869 broad.mit.edu 37 19 55593505 55593505 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:55593505A>G ENST00000201647.6 + 10 1003 c.947A>G c.(946-948)tAc>tGc p.Y316C EPS8L1_ENST00000588359.1_Intron|EPS8L1_ENST00000245618.5_Missense_Mutation_p.Y189C|EPS8L1_ENST00000586329.1_Missense_Mutation_p.Y298C|EPS8L1_ENST00000540810.1_Missense_Mutation_p.Y252C|EPS8L1_ENST00000592824.1_3'UTR NM_133180.2 NP_573441.2 Q8TE68 ES8L1_HUMAN EPS8-like 1 316 cytoplasm NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1) 12 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.044) GAGGCCGAGTACACCGACGTG 0.731000 6 18 0 0 1 0 0 CHST3 9469 broad.mit.edu 37 10 73767557 73767557 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:73767557C>T ENST00000373115.4 + 3 1205 c.768C>T c.(766-768)aaC>aaT p.N256N NM_004273.4 NP_004264.2 Q7LGC8 CHST3_HUMAN carbohydrate (chondroitin 6) sulfotransferase 3 256 chondroitin sulfate biosynthetic process Golgi membrane|integral to membrane chondroitin 6-sulfotransferase activity endometrium(1)|lung(5) 6 GCCCCCTCAACGTGACGCTGG 0.682000 8 18 0 0 1 0 0 ELMO1 9844 broad.mit.edu 37 7 36934500 36934500 + Silent SNP G G A rs140840691 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:36934500G>A ENST00000310758.4 - 17 2207 c.1560C>T c.(1558-1560)tcC>tcT p.S520S ELMO1_ENST00000341056.3_Silent_p.S222S|ELMO1_ENST00000396045.3_Silent_p.S40S|ELMO1_ENST00000448602.1_Silent_p.S520S|ELMO1_ENST00000396040.2_Silent_p.S40S|ELMO1_ENST00000442504.1_Silent_p.S520S NM_001206480.1|NM_014800.10 NP_001193409.1|NP_055615.8 Q92556 ELMO1_HUMAN engulfment and cell motility 1 520 actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|plasma membrane SH3 domain binding p.S520S(1) breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 58 TCATCCTCTCGGACTGGCGGA 0.463000 24 64 0 0 1 0 0 PCDHA7 56141 broad.mit.edu 37 5 140214061 140214061 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:140214061C>T ENST00000525929.1 + 1 93 c.93C>T c.(91-93)ctC>ctT p.L31L PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000378125.3_Silent_p.L31L|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron NM_018910.2 NP_061733.1 NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAGGCCAGCTCCACTACTCGG 0.597000 40 125 0 0 1 0 0 LETM1 3954 broad.mit.edu 37 4 1818499 1818499 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:1818499T>C ENST00000302787.2 - 12 2182 c.1886A>G c.(1885-1887)gAc>gGc p.D629G NM_012318.2 NP_036450.1 O95202 LETM1_HUMAN leucine zipper-EF-hand containing transmembrane protein 1 629 cristae formation integral to membrane|mitochondrial inner membrane calcium ion binding|protein binding breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1) 13 all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141) AGCCTGCTGGTCCATCTCCAG 0.592000 30 82 0 0 1 0 0 HSPA2 3306 broad.mit.edu 37 14 65007834 65007834 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:65007834A>G ENST00000247207.6 + 1 649 c.267A>G c.(265-267)aaA>aaG p.K89K HSPA2_ENST00000554883.1_Intron|HSPA2_ENST00000394709.1_Silent_p.K89K NM_021979.3 NP_068814.2 P54652 HSP72_HUMAN heat shock 70kDa protein 2 89 response to unfolded protein|spermatid development cell surface ATP binding|unfolded protein binding breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 22 all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045) CGGATATGAAACACTGGCCGT 0.557000 18 55 0 0 1 0 0 FAM89A 375061 broad.mit.edu 37 1 231155818 231155818 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:231155818C>T ENST00000366654.4 - 2 380 c.346G>A c.(346-348)Gag>Aag p.E116K FAM89A_ENST00000494111.1_5'UTR NM_198552.2 NP_940954.1 Q96GI7 FA89A_HUMAN family with sequence similarity 89, member A 116 endometrium(1)|upper_aerodigestive_tract(1) 2 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.178) TGAATCGACTCGTAGAGGCTG 0.547000 22 55 0 0 1 0 0 TIAM1 7074 broad.mit.edu 37 21 32595759 32595759 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr21:32595759C>T ENST00000286827.3 - 9 2429 c.1958G>A c.(1957-1959)cGc>cAc p.R653H TIAM1_ENST00000469412.1_5'UTR|TIAM1_ENST00000541036.1_Missense_Mutation_p.R653H NM_003253.2 NP_003244.2 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 653 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity p.R653H(2) autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 GATTCCAAGGCGGCCCATGGC 0.483000 12 128 0 0 1 0 0 UCP3 7352 broad.mit.edu 37 11 73716870 73716870 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:73716870T>C ENST00000314032.4 - 4 998 c.446A>G c.(445-447)cAc>cGc p.H149R UCP3_ENST00000348534.4_Intron|UCP3_ENST00000426995.2_Missense_Mutation_p.H149R NM_003356.3 NP_003347.1 P55916 UCP3_HUMAN uncoupling protein 3 (mitochondrial, proton carrier) 149 mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange integral to membrane|mitochondrial inner membrane binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 12 Breast(11;2.08e-05) TGGCCCGAGGTGTATGCTGGC 0.602000 9 96 0 0 1 0 0 OR12D3 81797 broad.mit.edu 37 6 29342617 29342617 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:29342617T>C ENST00000396806.3 - 1 451 c.448A>G c.(448-450)Agc>Ggc p.S150G OR5V1_ENST00000377154.1_Intron NM_030959.2 NP_112221.1 Q9UGF7 O12D3_HUMAN olfactory receptor, family 12, subfamily D, member 3 150 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3) 23 TAAAAGAAGCTGATGAGCCAG 0.493000 21 64 0 0 1 0 0 CDON 50937 broad.mit.edu 37 11 125853841 125853841 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:125853841C>T ENST00000392693.3 - 16 3048 c.2921G>A c.(2920-2922)gGc>gAc p.G974D CDON_ENST00000263577.7_Missense_Mutation_p.G974D|CDON_ENST00000531738.1_Missense_Mutation_p.G351D NM_001243597.1|NM_016952.4 NP_001230526.1|NP_058648.4 Q4KMG0 CDON_HUMAN cell adhesion associated, oncogene regulated 974 cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation integral to membrane|plasma membrane protein binding breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 all_hematologic(175;0.177) Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604) GACCATGACGCCCAGCACACA 0.478000 14 47 0 0 1 0 0 PDXDC2P 283970 broad.mit.edu 37 16 70011921 70011921 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:70011921A>G ENST00000325845.7 - 26 2673 c.604T>C c.(604-606)Ttt>Ctt p.F202L PDXDC2P_ENST00000531894.1_RNA|RP11-419C5.2_ENST00000532298.1_Intron|RP11-419C5.2_ENST00000525562.1_5'UTR breast(2)|endometrium(2)|kidney(6)|lung(2)|prostate(1) 13 AGGGAGAAAAATGTATCCATG 0.502000 20 67 0 0 1 0 0 ZNF641 121274 broad.mit.edu 37 12 48737161 48737161 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:48737161T>C ENST00000544117.2 - 6 1620 c.912A>G c.(910-912)agA>agG p.R304R ZNF641_ENST00000301042.3_Silent_p.R304R|ZNF641_ENST00000547026.1_Silent_p.R290R|ZNF641_ENST00000448928.3_Silent_p.R281R Q96N77 ZN641_HUMAN zinc finger protein 641 304 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 12 TGAGGTGATGTCTTCGCCCAA 0.527000 4 174 0 0 1 0 0 DLGAP3 58512 broad.mit.edu 37 1 35365747 35365747 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:35365747C>T ENST00000373347.1 - 4 1503 c.1235G>A c.(1234-1236)aGc>aAc p.S412N DLGAP3_ENST00000235180.4_Missense_Mutation_p.S412N O95886 DLGP3_HUMAN discs, large (Drosophila) homolog-associated protein 3 412 cell-cell signaling cell junction|postsynaptic density|postsynaptic membrane central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1) 46 Myeloproliferative disorder(586;0.0393) TGTCTTGGGGCTGCCGTCTGA 0.657000 11 175 0 0 1 0 0 ABHD8 79575 broad.mit.edu 37 19 17405647 17405647 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:17405647A>G ENST00000247706.3 - 3 1008 c.769T>C c.(769-771)Ttc>Ctc p.F257L MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000600434.1_Intron NM_024527.4 NP_078803.4 Q96I13 ABHD8_HUMAN abhydrolase domain containing 8 257 hydrolase activity central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1) 9 AATGTGCAGAAAGAGACACTG 0.527000 12 44 0 0 1 0 0 BTBD9 114781 broad.mit.edu 37 6 38548147 38548147 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:38548147G>A ENST00000481247.1 - 5 1032 c.881C>T c.(880-882)gCc>gTc p.A294V BTBD9_ENST00000403056.1_Missense_Mutation_p.A294V|BTBD9_ENST00000314100.6_Missense_Mutation_p.A226V|BTBD9_ENST00000419706.2_Missense_Mutation_p.A235V|BTBD9_ENST00000408958.1_Missense_Mutation_p.A226V NM_001099272.1|NM_052893.1 NP_001092742.1|NP_443125.1 Q96Q07 BTBD9_HUMAN BTB (POZ) domain containing 9 294 cell adhesion breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1) 12 ATCTAATAAGGCTGATTTCAG 0.388000 36 121 0 0 1 0 0 RGL1 23179 broad.mit.edu 37 1 183885723 183885723 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:183885723C>T ENST00000304685.3 + 17 2458 c.1997C>T c.(1996-1998)aCg>aTg p.T666M RGL1_ENST00000536277.1_Missense_Mutation_p.T629M|RGL1_ENST00000539189.1_Missense_Mutation_p.T602M|RGL1_ENST00000360851.3_Missense_Mutation_p.T631M|RGL1_ENST00000367531.1_Missense_Mutation_p.T666M NM_015149.3 NP_055964.3 Q9NZL6 RGL1_HUMAN ral guanine nucleotide dissociation stimulator-like 1 631 Ras-associating. cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular protein binding|Ral guanyl-nucleotide exchange factor activity p.T666M(1) breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1) 51 GTCTCGGTGACGTCCATTACC 0.502000 54 114 0 0 1 0 0 IL17RA 23765 broad.mit.edu 37 22 17589322 17589322 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr22:17589322G>A ENST00000319363.6 + 13 1346 c.1213G>A c.(1213-1215)Gcc>Acc p.A405T NM_014339.5 NP_055154.3 Q96F46 I17RA_HUMAN interleukin 17 receptor A 405 SEFIR. fibroblast activation|positive regulation of interleukin-23 production integral to plasma membrane interleukin-17 receptor activity endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1) 30 all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132) Colorectal(9;0.241) CCTGCTCACCGCCTGCGGCAC 0.637000 22 59 0 0 1 0 0 UQCRC2 7385 broad.mit.edu 37 16 21994469 21994469 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:21994469A>G ENST00000268379.4 + 14 2103 c.1339A>G c.(1339-1341)Aca>Gca p.T447A UQCRC2_ENST00000561553.1_Missense_Mutation_p.I395M NM_003366.2 NP_003357.2 P22695 QCR2_HUMAN ubiquinol-cytochrome c reductase core protein II 447 aerobic respiration|oxidative phosphorylation|proteolysis|respiratory electron transport chain|transport metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(4)|prostate(1)|skin(1) 15 GBM - Glioblastoma multiforme(48;0.0264) TTTGGGACATACACCTTTTGT 0.393000 4 77 0 0 1 0 0 GNAS 2778 broad.mit.edu 37 20 57485765 57485765 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:57485765C>T ENST00000371100.4 + 13 3547 c.2995C>T c.(2995-2997)Cgt>Tgt p.R999C GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000371085.3_Missense_Mutation_p.R356C|GNAS_ENST00000354359.7_Missense_Mutation_p.R357C|GNAS_ENST00000371102.4_Missense_Mutation_p.R985C|GNAS_ENST00000371095.3_Missense_Mutation_p.R342C|GNAS_ENST00000265620.7_Missense_Mutation_p.R341C|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000306090.10_Missense_Mutation_p.R342C NM_001077490.1|NM_080425.2 NP_001070958.1|NP_536350.2 P63092 GNAS2_HUMAN GNAS complex locus 356 activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1) 441 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) TGGAGATGGGCGTCACTACTG 0.577000 Mis pituitary adenoma """McCune-Albright syndrome; pseudohypoparathyroidism, type IA""" TSP Lung(22;0.16) 15 48 0 0 1 0 0 AGTRAP 57085 broad.mit.edu 37 1 11808623 11808623 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:11808623A>G ENST00000314340.5 + 4 374 c.320A>G c.(319-321)tAc>tGc p.Y107C AGTRAP_ENST00000452018.2_Silent_p.L139L|AGTRAP_ENST00000491346.1_3'UTR|AGTRAP_ENST00000376629.4_Missense_Mutation_p.Y107C|AGTRAP_ENST00000400895.2_Silent_p.L139L|AGTRAP_ENST00000376627.2_Silent_p.L151L|AGTRAP_ENST00000510878.1_Missense_Mutation_p.T72A|AGTRAP_ENST00000376637.3_Silent_p.L95L NM_020350.4 NP_065083.3 Q6RW13 ATRAP_HUMAN angiotensin II receptor-associated protein 107 cytoplasmic vesicle membrane|endoplasmic reticulum membrane|Golgi membrane|integral to membrane protein binding AGTRAP/BRAF(2) endometrium(1)|lung(3)|prostate(1) 5 Ovarian(185;0.249) Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.46e-06)|COAD - Colon adenocarcinoma(227;0.000256)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649) TGCTTCGTCTACCACATGTAC 0.657000 10 63 0 0 1 0 0 EML1 2009 broad.mit.edu 37 14 100363565 100363565 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:100363565T>C ENST00000262233.6 + 7 900 c.761T>C c.(760-762)gTg>gCg p.V254A EML1_ENST00000334192.4_Missense_Mutation_p.V273A|EML1_ENST00000327921.9_Missense_Mutation_p.V242A NM_004434.2 NP_004425.2 O00423 EMAL1_HUMAN echinoderm microtubule associated protein like 1 254 cytoplasm|microtubule|microtubule associated complex calcium ion binding|protein binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Melanoma(154;0.0879)|all_epithelial(191;0.216) GCATCCGTGGTGGTGTTATAC 0.527000 33 72 0 0 1 0 0 RDM1 201299 broad.mit.edu 37 17 34249575 34249575 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:34249575T>C ENST00000430160.2 - 4 1074 c.604A>G c.(604-606)Act>Gct p.T202A RDM1_ENST00000293273.6_Intron|RDM1_ENST00000591402.1_Intron|RDM1_ENST00000431884.2_Intron|RDM1_ENST00000425909.3_Intron|RDM1_ENST00000419453.2_Intron|RDM1_ENST00000394527.1_3'UTR|RDM1_ENST00000394528.3_Missense_Mutation_p.T225A|RDM1_ENST00000394529.3_Intron Q8NG50 RDM1_HUMAN RAD52 motif 1 0 DNA recombination|DNA repair Cajal body|cytoplasm|nucleolus|PML body DNA binding|nucleotide binding|RNA binding breast(1)|kidney(3)|large_intestine(2)|ovary(1)|skin(1)|stomach(1) 9 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) ATCAAGACAGTCTTACCTAGA 0.328000 Other identified genes with known or suspected DNA repair function 28 127 0 0 1 0 0 R3HDM1 23518 broad.mit.edu 37 2 136379096 136379096 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:136379096T>C ENST00000264160.4 + 6 706 c.336T>C c.(334-336)ttT>ttC p.F112F R3HDM1_ENST00000409606.1_Silent_p.F112F|R3HDM1_ENST00000410054.1_Silent_p.F56F|R3HDM1_ENST00000409478.1_Silent_p.F68F|R3HDM1_ENST00000329971.3_Silent_p.F68F NM_015361.2 NP_056176.2 Q15032 R3HD1_HUMAN R3H domain containing 1 112 nucleic acid binding breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 38 BRCA - Breast invasive adenocarcinoma(221;0.127) CACAATCATTTGAGAAAGAAG 0.328000 3 21 0 0 1 0 0 OGFOD1 55239 broad.mit.edu 37 16 56500103 56500103 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:56500103G>A ENST00000566157.1 + 5 611 c.488G>A c.(487-489)cGg>cAg p.R163Q OGFOD1_ENST00000568397.1_Missense_Mutation_p.R163Q NM_018233.3 NP_060703.3 Q8N543 OGFD1_HUMAN 2-oxoglutarate and iron-dependent oxygenase domain containing 1 163 Fe2OG dioxygenase. iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 8 Vitamin C(DB00126) GAAGGGCGCCGGATTGCCTTC 0.522000 6 73 0 0 1 0 0 PPFIBP1 8496 broad.mit.edu 37 12 27844717 27844717 + Missense_Mutation SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:27844717G>T ENST00000318304.8 + 27 3022 c.2739G>T c.(2737-2739)ttG>ttT p.L913F PPFIBP1_ENST00000542629.1_Missense_Mutation_p.L882F|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.L907F|PPFIBP1_ENST00000537927.1_Missense_Mutation_p.L760F NM_001198916.1|NM_177444.2 NP_001185845.1|NP_803193.2 Q86W92 LIPB1_HUMAN PTPRF interacting protein, binding protein 1 (liprin beta 1) 913 cell adhesion plasma membrane protein binding PPFIBP1/ALK(3) central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1) 32 Lung SC(9;0.0873) TTGGGAATTTGAGAAAGAAGA 0.353000 25 148 4.22769e-11 4.39123e-11 1 1 0 PSMD1 5707 broad.mit.edu 37 2 231943377 231943377 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:231943377C>T ENST00000308696.6 + 10 1238 c.1076C>T c.(1075-1077)gCa>gTa p.A359V PSMD1_ENST00000409643.1_Missense_Mutation_p.A359V|PSMD1_ENST00000373635.4_Missense_Mutation_p.A359V NM_002807.3 NP_002798.2 Q99460 PSMD1_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 1 359 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction proteasome regulatory particle enzyme regulator activity|protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4) 31 Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168) Bortezomib(DB00188) TTGCAGGATGCAGTACGGAAT 0.398000 10 23 0 0 1 0 0 CDH1 999 broad.mit.edu 37 16 68867195 68867195 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:68867195T>C ENST00000261769.5 + 16 2633 c.2442T>C c.(2440-2442)aaT>aaC p.N814N CDH1_ENST00000422392.2_Silent_p.N753N|CDH1_ENST00000562836.1_3'UTR NM_004360.3 NP_004351.1 P12830 CADH1_HUMAN cadherin 1, type 1, E-cadherin (epithelial) 814 Required for binding alpha, beta and gamma catenins. adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm cell adhesion molecule binding|gamma-catenin binding NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 311 all_neural(199;0.0189)|Ovarian(137;0.0563) Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261) TTCTTTAGAATCTGAAAGCGG 0.488000 """Mis, N, F, S""" """lobular breast, gastric""" gastric Hereditary Diffuse Gastric Cancer 4 80 0 0 1 0 0 INPP4A 3631 broad.mit.edu 37 2 99149904 99149904 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:99149904C>T ENST00000074304.5 + 5 609 c.216C>T c.(214-216)gtC>gtT p.V72V INPP4A_ENST00000409016.3_Silent_p.V72V|INPP4A_ENST00000409540.3_Silent_p.V72V|INPP4A_ENST00000545415.1_Silent_p.V72V|INPP4A_ENST00000523221.1_Silent_p.V72V|INPP4A_ENST00000409463.1_Silent_p.V72V|INPP4A_ENST00000409851.3_Silent_p.V72V NM_001134224.1 NP_001127696.1 Q96PE3 INP4A_HUMAN inositol polyphosphate-4-phosphatase, type I, 107kDa 72 C2. signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4) 43 CGGTGAGTGTCACCACCCCTC 0.507000 30 105 0 0 1 0 0 KNDC1 85442 broad.mit.edu 37 10 135038191 135038191 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:135038191C>T ENST00000304613.3 + 30 5068 c.5047C>T c.(5047-5049)Cac>Tac p.H1683Y KNDC1_ENST00000368572.2_Missense_Mutation_p.H1685Y Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) containing 1 1683 Ras-GEF. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 60 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) GAGCCAGGTGCACGCGTTCCA 0.607000 10 51 0 0 1 0 0 ITGA4 3676 broad.mit.edu 37 2 182347144 182347144 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:182347144A>G ENST00000397033.2 + 8 1328 c.898A>G c.(898-900)Aaa>Gaa p.K300E NM_000885.4 NP_000876.3 P13612 ITA4_HUMAN integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) 300 blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) AATGAAAGGTAAAAAGGTAAT 0.333000 21 87 0 0 1 0 0 NR2E1 7101 broad.mit.edu 37 6 108496088 108496088 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:108496088C>T ENST00000368986.4 + 3 928 c.220C>T c.(220-222)Cgg>Tgg p.R74W NR2E1_ENST00000368983.3_Missense_Mutation_p.R111W NM_003269.3 NP_003260.1 Q9Y466 NR2E1_HUMAN nuclear receptor subfamily 2, group E, member 1 74 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3) 30 all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637) BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689) CAGGGCGTGTCGGCTGAAGAA 0.498000 23 37 0 0 1 0 0 ACIN1 22985 broad.mit.edu 37 14 23549361 23549361 + Missense_Mutation SNP A A C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:23549361A>C ENST00000262710.1 - 6 1684 c.1357T>G c.(1357-1359)Tct>Gct p.S453A ACIN1_ENST00000555053.1_Missense_Mutation_p.S453A|ACIN1_ENST00000605057.1_Missense_Mutation_p.S395A|ACIN1_ENST00000457657.1_Missense_Mutation_p.S413A NM_001164814.1|NM_014977.3 NP_001158286.1|NP_055792.1 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 453 apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation cytosol ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 37 all_cancers(95;1.36e-05) GBM - Glioblastoma multiforme(265;0.00816) TTAGGAGGAGATAACTGAATG 0.502000 4 125 0 0 1 0 0 PTPN7 5778 broad.mit.edu 37 1 202128645 202128645 + Translation_Start_Site SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:202128645C>T ENST00000367279.4 - 1 474 c.3G>A c.(1-3)atG>atA p.M1I PTPN7_ENST00000309017.3_Intron|PTPN7_ENST00000543735.1_Intron|PTPN7_ENST00000544762.1_Intron|PTPN7_ENST00000308986.5_Intron NM_080588.2 NP_542155.1 P35236 PTN7_HUMAN protein tyrosine phosphatase, non-receptor type 7 0 cytosol|internal side of plasma membrane protein binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1) 13 AGGAGGCTCCCATGCCAGGCC 0.587000 19 59 0 0 1 0 0 UTP20 27340 broad.mit.edu 37 12 101679591 101679591 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:101679591C>T ENST00000261637.4 + 4 432 c.258C>T c.(256-258)aaC>aaT p.N86N NM_014503.2 NP_055318.2 O75691 UTP20_HUMAN UTP20, small subunit (SSU) processome component, homolog (yeast) 86 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 ATCACCAAAACGAGATAGTTC 0.363000 27 106 0 0 1 0 0 NCOA2 10499 broad.mit.edu 37 8 71069425 71069425 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:71069425C>T ENST00000452400.2 - 11 1356 c.1175G>A c.(1174-1176)gGg>gAg p.G392E NM_006540.2 NP_006531.1 Q15596 NCOA2_HUMAN nuclear receptor coactivator 2 392 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity PAX3/NCOA2(4)|HEY1/NCOA2(10) NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4) 60 Breast(64;0.201) Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606) CAGTGGCTTCCCCATCGTTTG 0.433000 T """RUNXBP2, HEY1""" """AML, Chondrosarcoma""" 12 48 0 0 1 0 0 DNM1P47 100216544 broad.mit.edu 37 15 102305099 102305099 + RNA SNP C C G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:102305099C>G ENST00000561463.1 + 0 13145 ACCATCAGCACAGCTACGGGG 0.637000 7 24 0 0 1 0 0 ATAD2B 54454 broad.mit.edu 37 2 24021108 24021108 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:24021108A>G ENST00000238789.5 - 19 2883 c.2540T>C c.(2539-2541)gTg>gCg p.V847A ATAD2B_ENST00000474583.1_5'UTR NM_001242338.1|NM_017552.2 NP_001229267.1|NP_060022.1 Q9ULI0 ATD2B_HUMAN ATPase family, AAA domain containing 2B 847 ATP binding|nucleoside-triphosphatase activity central_nervous_system(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGTTGCTCTCACAGTTTCACT 0.383000 10 22 0 0 1 0 0 CD2BP2 10421 broad.mit.edu 37 16 30364596 30364596 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:30364596C>T ENST00000305596.3 - 6 996 c.821G>A c.(820-822)cGg>cAg p.R274Q CD2BP2_ENST00000569466.1_Missense_Mutation_p.R274Q NM_006110.2 NP_006101.1 O95400 CD2B2_HUMAN CD2 (cytoplasmic tail) binding protein 2 274 assembly of spliceosomal tri-snRNP cytoplasm|nucleoplasm|U5 snRNP protein binding|ribonucleoprotein binding breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1) 15 ACCATCTCCCCGCGACTCTGC 0.572000 40 122 0 0 1 0 0 CUX1 1523 broad.mit.edu 37 7 101833102 101833102 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:101833102G>A ENST00000360264.3 + 12 1080 c.1060G>A c.(1060-1062)Gaa>Aaa p.E354K CUX1_ENST00000556210.1_Missense_Mutation_p.E343K|CUX1_ENST00000549414.2_Missense_Mutation_p.E343K|CUX1_ENST00000437600.4_Missense_Mutation_p.E352K|CUX1_ENST00000550008.2_Missense_Mutation_p.E343K|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000425244.2_Missense_Mutation_p.E308K|CUX1_ENST00000546411.2_Missense_Mutation_p.E343K|CUX1_ENST00000393824.3_Missense_Mutation_p.E315K|CUX1_ENST00000547394.2_Missense_Mutation_p.E338K|CUX1_ENST00000292538.4_Missense_Mutation_p.E354K|CUX1_ENST00000292535.7_Missense_Mutation_p.E343K NM_001202543.1 NP_001189472.1 P39880 CUX1_HUMAN cut-like homeobox 1 343 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5) 70 GCAACTGGAAGAAAAACTCAA 0.537000 12 40 0 0 1 0 0 ZKSCAN7 55888 broad.mit.edu 37 3 44611629 44611629 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:44611629G>A ENST00000273320.3 + 6 1456 c.1027G>A c.(1027-1029)Gat>Aat p.D343N RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000431636.1_Intron|ZKSCAN7_ENST00000426540.1_Missense_Mutation_p.D343N|ZKSCAN7_ENST00000341840.3_Intron NM_018651.2 NP_061121.2 zinc finger with KRAB and SCAN domains 7 GGAAATAACAGATGAAGATAA 0.383000 44 102 0 0 1 0 0 DDX60 55601 broad.mit.edu 37 4 169173745 169173745 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:169173745T>C ENST00000393743.3 - 27 3911 c.3620A>G c.(3619-3621)cAt>cGt p.H1207R DDX60_ENST00000505393.1_5'UTR NM_017631.5 NP_060101.3 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 1207 ATP binding|ATP-dependent helicase activity|RNA binding breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4) 63 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) TAGATTATCATGTTCAGCTTC 0.358000 60 179 0 0 1 0 0 VPS13B 157680 broad.mit.edu 37 8 100514039 100514039 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:100514039A>G ENST00000395996.1 + 26 4106 c.3995A>G c.(3994-3996)aAa>aGa p.K1332R VPS13B_ENST00000358544.2_Missense_Mutation_p.K1332R|VPS13B_ENST00000357162.2_Missense_Mutation_p.K1332R Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 1332 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) GTGCTTCCCAAAATTACTATA 0.453000 91 147 0 0 1 0 0 DRC1 92749 broad.mit.edu 37 2 26667099 26667099 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:26667099T>C ENST00000288710.2 + 9 1112 c.1038T>C c.(1036-1038)gaT>gaC p.D346D DRC1_ENST00000483675.1_3'UTR NM_145038.2 NP_659475.2 dynein regulatory complex subunit 1 homolog (Chlamydomonas) GCCTGCATGATATACTTAACA 0.413000 22 58 0 0 1 0 0 TNFAIP3 7128 broad.mit.edu 37 6 138200106 138200106 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:138200106C>T ENST00000237289.4 + 7 1590 c.1524C>T c.(1522-1524)caC>caT p.H508H NM_001270507.1|NM_001270508.1|NM_006290.3 NP_001257436.1|NP_001257437.1|NP_006281.1 P21580 TNAP3_HUMAN tumor necrosis factor, alpha-induced protein 3 508 Interaction with NAF1 (By similarity). anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide centrosome|cytosol|nucleus caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding p.0?(25)|p.A506fs*21(1) breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 225 Breast(32;0.135)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468) ACGCCAGCCACGCCCCAGACC 0.562000 """D, N, F""" """marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma""" 23 55 0 0 1 0 0 CHRNA2 1135 broad.mit.edu 37 8 27327319 27327319 + Missense_Mutation SNP T T A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:27327319T>A ENST00000407991.1 - 3 861 c.253A>T c.(253-255)Att>Ttt p.I85F CHRNA2_ENST00000520933.2_Missense_Mutation_p.I85F|CHRNA2_ENST00000240132.2_Intron NM_000742.3 NP_000733.2 Q15822 ACHA2_HUMAN cholinergic receptor, nicotinic, alpha 2 (neuronal) 85 cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 23 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136) Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199) AAGCGCACAATCACCACGTCT 0.627000 53 264 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228494170 228494170 + Silent SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:228494170A>T ENST00000570156.2 + 55 14702 c.14628A>T c.(14626-14628)acA>acT p.T4876T OBSCN_ENST00000366707.4_Silent_p.T1553T|OBSCN_ENST00000284548.11_Silent_p.T3919T|OBSCN_ENST00000422127.1_Silent_p.T3919T|OBSCN_ENST00000366709.4_Silent_p.T1038T NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 3919 IQ. 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) CCACTGCTACAGTGGTCTGGA 0.672000 5 59 0 0 1 0 0 SOX5 6660 broad.mit.edu 37 12 23696242 23696242 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:23696242A>G ENST00000546136.1 - 12 1637 c.1635T>C c.(1633-1635)cgT>cgC p.R545R SOX5_ENST00000545921.1_Silent_p.R548R|SOX5_ENST00000396007.2_Silent_p.R172R|SOX5_ENST00000451604.2_Silent_p.R558R|SOX5_ENST00000537393.1_Silent_p.R523R|SOX5_ENST00000381381.2_Silent_p.R437R|SOX5_ENST00000309359.1_Silent_p.R545R|SOX5_ENST00000541536.1_Silent_p.R437R P35711 SOX5_HUMAN SRY (sex determining region Y)-box 5 558 E -> G (in Ref. 2; BAB85048). transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3) 57 CATTCATTGGACGCTTTATGT 0.463000 7 165 0 0 1 0 0 RAD54B 25788 broad.mit.edu 37 8 95470494 95470494 + Splice_Site SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:95470494A>G ENST00000336148.5 - 3 429 c.e3+1 RAD54B_ENST00000297592.5_Splice_Site NM_012415.3 NP_036547.1 O95073 FSBP_HUMAN RAD54 homolog B (S. cerevisiae) double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA translocase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Breast(36;4.5e-05) BRCA - Breast invasive adenocarcinoma(8;0.00217) AAGCAGTCTTACCTGTATGAG 0.299000 Direct reversal of damage;Homologous recombination 25 129 0 0 1 0 0 SH3BP4 23677 broad.mit.edu 37 2 235950891 235950891 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:235950891C>T ENST00000409212.1 + 4 1985 c.1478C>T c.(1477-1479)aCc>aTc p.T493I SH3BP4_ENST00000392011.2_Missense_Mutation_p.T493I|SH3BP4_ENST00000344528.4_Missense_Mutation_p.T493I Q9P0V3 SH3B4_HUMAN SH3-domain binding protein 4 493 endocytosis clathrin-coated vesicle|coated pit|nucleus protein binding central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2) 44 Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419) Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237) ACGGTAGTGACCATTTTTGGG 0.572000 27 71 0 0 1 0 0 CC2D2B 387707 broad.mit.edu 37 10 97779080 97779080 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:97779080T>C ENST00000344386.3 + 7 807 c.643T>C c.(643-645)Ttt>Ctt p.F215L ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA|CC2D2B_ENST00000410012.2_Missense_Mutation_p.F215L|ENTPD1-AS1_ENST00000458228.1_RNA|ENTPD1-AS1_ENST00000454638.1_RNA|CC2D2B_ENST00000371198.2_Intron|RP11-690P14.4_ENST00000475252.2_Intron NM_001001732.3 NP_001001732.2 Q6DHV5 C2D2B_HUMAN coiled-coil and C2 domain containing 2B 215 large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1) 10 Colorectal(252;0.158) Epithelial(162;7.08e-08)|all cancers(201;2.71e-06) AGATTGTTTGTTTGATGATAG 0.358000 21 49 0 0 1 0 0 EPHA8 2046 broad.mit.edu 37 1 22920126 22920126 + Nonsense_Mutation SNP C C G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:22920126C>G ENST00000166244.3 + 7 1622 c.1550C>G c.(1549-1551)tCa>tGa p.S517* NM_020526.3 NP_065387.1 P29322 EPHA8_HUMAN EPH receptor A8 517 Fibronectin type-III 2. integral to plasma membrane ATP binding|ephrin receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) GCCCGCACCTCAGCAGGCTGT 0.697000 5 13 0 0 1 0 0 USP10 9100 broad.mit.edu 37 16 84806196 84806196 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:84806196T>C ENST00000219473.7 + 12 2161 c.2048T>C c.(2047-2049)gTg>gCg p.V683A USP10_ENST00000570191.1_Missense_Mutation_p.V687A NM_001272075.1|NM_005153.2 NP_001259004.1|NP_005144.2 Q14694 UBP10_HUMAN ubiquitin specific peptidase 10 683 DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process early endosome|intermediate filament cytoskeleton|nucleus cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1) 17 CCTGTCCTCGTGCTGCACCTG 0.443000 22 243 0 0 1 0 0 MTHFD1 4522 broad.mit.edu 37 14 64892912 64892912 + Splice_Site SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:64892912T>C ENST00000555709.1 + 11 1514 c.e11+2 MTHFD1_ENST00000545908.1_Splice_Site|CTD-2555O16.2_ENST00000556640.1_RNA|MTHFD1_ENST00000555252.1_Splice_Site|MTHFD1_ENST00000216605.7_Splice_Site NM_005956.3 NP_005947.3 P11586 C1TC_HUMAN methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process cytosol|mitochondrion ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2) 30 OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488) NADH(DB00157)|Tetrahydrofolic acid(DB00116) GGTGACTGGGTATGCTTTTTA 0.438000 13 100 0 0 1 0 0 SSH1 54434 broad.mit.edu 37 12 109196115 109196115 + Missense_Mutation SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:109196115C>A ENST00000326495.5 - 11 1077 c.984G>T c.(982-984)gaG>gaT p.E328D SSH1_ENST00000360239.3_Intron|SSH1_ENST00000326470.5_Missense_Mutation_p.E339D|SSH1_ENST00000551165.1_Missense_Mutation_p.E328D NM_018984.3 NP_061857.3 Q8WYL5 SSH1_HUMAN slingshot protein phosphatase 1 328 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 CCTGCAGTTCCTCCAGATTGG 0.572000 24 33 1.85244e-09 1.91616e-09 1 1 0 ATP2A3 489 broad.mit.edu 37 17 3828691 3828691 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:3828691G>A ENST00000352011.3 - 22 3167 c.3113C>T c.(3112-3114)cCg>cTg p.P1038L ATP2A3_ENST00000397041.3_3'UTR|ATP2A3_ENST00000397039.1_Splice_Site_p.P212_splice|ATP2A3_ENST00000397035.3_3'UTR|ATP2A3_ENST00000359983.3_3'UTR|ATP2A3_ENST00000309890.7_3'UTR|ATP2A3_ENST00000397043.3_3'UTR Q93084 AT2A3_HUMAN ATPase, Ca++ transporting, ubiquitous 1038 ATP biosynthetic process|platelet activation integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 36 LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766) GGTACACACCGGAGACTCCAC 0.572000 6 30 0 0 1 0 0 SPCS1 28972 broad.mit.edu 37 3 52740853 52740853 + Nonsense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:52740853G>A ENST00000233025.7 + 3 752 c.342G>A c.(340-342)tgG>tgA p.W114* SPCS1_ENST00000423431.1_Nonsense_Mutation_p.W25*|SPCS1_ENST00000602728.1_Nonsense_Mutation_p.W47* NM_014041.3 NP_054760.3 Q9Y6A9 SPCS1_HUMAN signal peptidase complex subunit 1 homolog (S. cerevisiae) 114 energy reserve metabolic process|regulation of insulin secretion|signal peptide processing integral to endoplasmic reticulum membrane|microsome|signal peptidase complex peptidase activity kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1) 6 BRCA - Breast invasive adenocarcinoma(193;6.51e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)|OV - Ovarian serous cystadenocarcinoma(275;0.0469) AGTTCGGGTGGACTGTCTATA 0.438000 52 200 0 0 1 0 0 ARHGAP27 201176 broad.mit.edu 37 17 43474094 43474094 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:43474094G>A ENST00000532038.1 - 11 1483 c.1348C>T c.(1348-1350)Cgc>Tgc p.R450C ARHGAP27_ENST00000428638.1_Missense_Mutation_p.R672C|ARHGAP27_ENST00000532891.2_Missense_Mutation_p.R650C|ARHGAP27_ENST00000442348.1_Missense_Mutation_p.R645C|ARHGAP27_ENST00000376922.2_Missense_Mutation_p.R331C|ARHGAP27_ENST00000528384.1_Missense_Mutation_p.R304C|ARHGAP27_ENST00000455881.1_Missense_Mutation_p.R331C Q6ZUM4 RHG27_HUMAN Rho GTPase activating protein 27 672 positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction cytoplasm|membrane Rac GTPase activator activity|SH3 domain binding endometrium(4)|large_intestine(9)|lung(3)|skin(1) 17 Renal(3;0.0405) AGGAACTTGCGGAGCTTGTGC 0.711000 7 48 0 0 1 0 0 SLC4A8 9498 broad.mit.edu 37 12 51879581 51879581 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:51879581T>C ENST00000453097.2 + 17 2400 c.2183T>C c.(2182-2184)aTg>aCg p.M728T SLC4A8_ENST00000358657.3_Missense_Mutation_p.M755T NM_001039960.2|NM_001258401.2 NP_001035049.1|NP_001245330.1 Q2Y0W8 S4A8_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 8 728 bicarbonate transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5) 55 BRCA - Breast invasive adenocarcinoma(357;0.15) GTACGCTCCATGGTGAGTGAC 0.398000 15 96 0 0 1 0 0 PROZ 8858 broad.mit.edu 37 13 113826404 113826404 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr13:113826404A>G ENST00000342783.4 + 9 1261 c.1254A>G c.(1252-1254)aaA>aaG p.K418K PROZ_ENST00000375547.2_Silent_p.K396K NM_001256134.1 NP_001243063.1 P22891 PROZ_HUMAN protein Z, vitamin K-dependent plasma glycoprotein 396 blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen calcium ion binding|serine-type endopeptidase activity NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2) 16 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_lung(25;0.216) all cancers(43;0.104) Menadione(DB00170) TCTGGTTTAAACAGATCATGA 0.547000 4 30 0 0 1 0 0 MUC6 4588 broad.mit.edu 37 11 1017584 1017584 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:1017584T>C ENST00000421673.2 - 31 5267 c.5217A>G c.(5215-5217)tcA>tcG p.S1739S NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 1739 Approximate repeats.|Thr-rich. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) CCGTGCTAAATGAGCTTCGGG 0.542000 116 799 0 0 1 0 0 SENP3-EIF4A1 100533955 broad.mit.edu 37 17 7476073 7476073 + RNA SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:7476073C>T ENST00000579777.1 + 0 1984 NR_037926.1 GGGGCCGGGGCGGCCAAACCA 0.627000 6 37 0 0 1 0 0 FBXO34 55030 broad.mit.edu 37 14 55817973 55817973 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:55817973G>A ENST00000313833.4 + 2 1110 c.865G>A c.(865-867)Gag>Aag p.E289K FBXO34_ENST00000440021.1_Missense_Mutation_p.E289K NM_017943.3 NP_060413.2 Q9NWN3 FBX34_HUMAN F-box protein 34 289 breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3) 22 GTTGGAGTCTGAGTGCCTGAA 0.532000 47 193 0 0 1 0 0 TAF6 6878 broad.mit.edu 37 7 99705144 99705144 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:99705144T>C ENST00000344095.4 - 15 2284 c.1759A>G c.(1759-1761)Acc>Gcc p.T587A TAF6_ENST00000453269.2_Missense_Mutation_p.T587A|AP4M1_ENST00000421755.1_Intron|TAF6_ENST00000452041.1_Missense_Mutation_p.T587A|TAF6_ENST00000472509.1_Missense_Mutation_p.T644A|TAF6_ENST00000437822.2_Missense_Mutation_p.T624A|TAF6_ENST00000418432.2_Missense_Mutation_p.T511A NM_005641.3 NP_005632.1 P49848 TAF6_HUMAN TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa 587 negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2) 26 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GTGGTGGCGGTGGAGACCAAC 0.662000 45 127 0 0 1 0 0 F2R 2149 broad.mit.edu 37 5 76028487 76028487 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:76028487C>T ENST00000319211.4 + 2 702 c.437C>T c.(436-438)aCg>aTg p.T146M NM_001992.3 NP_001983.2 P25116 PAR1_HUMAN coagulation factor II (thrombin) receptor 146 activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network receptor binding|thrombin receptor activity NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3) 16 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129) all cancers(79;4.43e-43) Streptokinase(DB00086) CACCTGGCCACGGCAGATGTG 0.498000 55 196 0 0 1 0 0 OGFOD1 55239 broad.mit.edu 37 16 56509460 56509460 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:56509460A>G ENST00000566157.1 + 12 1573 c.1450A>G c.(1450-1452)Aaa>Gaa p.K484E OGFOD1_ENST00000568397.1_Missense_Mutation_p.K441E NM_018233.3 NP_060703.3 Q8N543 OGFD1_HUMAN 2-oxoglutarate and iron-dependent oxygenase domain containing 1 484 iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 8 Vitamin C(DB00126) TTACATTGCCAAAGGTGAAGA 0.368000 19 80 0 0 1 0 0 ZNF629 23361 broad.mit.edu 37 16 30794696 30794696 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:30794696T>C ENST00000262525.4 - 3 1160 c.953A>G c.(952-954)tAc>tGc p.Y318C NM_001080417.1 NP_001073886.1 Q9UEG4 ZN629_HUMAN zinc finger protein 629 318 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1) 22 Colorectal(24;0.198) GGTGCAGCGGTATGGCTTCTC 0.627000 37 108 0 0 1 0 0 SEMG1 6406 broad.mit.edu 37 20 43837051 43837051 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:43837051A>G ENST00000372781.3 + 2 1170 c.1113A>G c.(1111-1113)caA>caG p.Q371Q SEMG1_ENST00000244069.6_Silent_p.Q311Q NM_003007.3 NP_002998.1 semenogelin I cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1) 32 Myeloproliferative disorder(115;0.0122) ATGTATCCCAACGCAGTATTT 0.413000 24 78 0 0 1 0 0 SIK3 23387 broad.mit.edu 37 11 116767008 116767008 + Translation_Start_Site SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:116767008G>T ENST00000375288.1 - 0 687 SIK3_ENST00000542607.1_Missense_Mutation_p.L218M|SIK3_ENST00000375300.1_Missense_Mutation_p.L276M|SIK3_ENST00000446921.2_Missense_Mutation_p.L276M|SIK3_ENST00000292055.4_Missense_Mutation_p.L218M|SIK3_ENST00000434315.2_Missense_Mutation_p.L117M Q9Y2K2 SIK3_HUMAN SIK family kinase 3 cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 57 TTTCCACTCAGCACGCGGGCC 0.517000 52 122 1.32667e-27 1.40583e-27 1 1 0 ARHGAP6 395 broad.mit.edu 37 X 11682447 11682447 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chrX:11682447C>T ENST00000337414.4 - 1 1374 c.502G>A c.(502-504)Gct>Act p.A168T ARHGAP6_ENST00000380718.1_Missense_Mutation_p.A168T|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.A168T NM_013427.2 NP_038286.2 O43182 RHG06_HUMAN Rho GTPase activating protein 6 168 actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction actin filament|cytosol phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 CTAGGAGAAGCGAAGATGCCA 0.647000 17 19 0 0 1 0 0 CENPE 1062 broad.mit.edu 37 4 104041313 104041313 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:104041313C>T ENST00000265148.3 - 44 7410 c.7321G>A c.(7321-7323)Gta>Ata p.V2441I CENPE_ENST00000380026.3_Missense_Mutation_p.V2320I NM_001813.2 NP_001804.2 Q02224 CENPE_HUMAN centromere protein E, 312kDa 2441 Kinetochore-binding domain. blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3) 101 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) ACCTGAAGTACTTGAATTGTC 0.313000 6 11 0 0 1 0 0 KRTAP10-11 386678 broad.mit.edu 37 21 46066709 46066709 + Missense_Mutation SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr21:46066709C>A ENST00000334670.8 + 1 379 c.334C>A c.(334-336)Cct>Act p.P112T TSPEAR_ENST00000323084.4_Intron NM_198692.2 NP_941965.2 P60411 KR109_HUMAN keratin associated protein 10-11 107 25 X 5 AA repeats of C-C-X(3). keratin filament NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1) 12 ctgctgcaagcctgtgtgctg 0.647000 20 252 3.86903e-22 4.0874e-22 1 1 0 RP11-125O5.2 0 broad.mit.edu 37 12 21207556 21207556 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:21207556C>T ENST00000590779.1 + 1 29 c.29C>T c.(28-30)cCg>cTg p.P10L LST3_ENST00000381541.3_Silent_p.S556S|SLCO1B7_ENST00000421593.2_Silent_p.S509S|SLCO1B7_ENST00000554957.1_Silent_p.S556S|LST3_ENST00000540229.1_Intron|SLCO1B3_ENST00000553473.1_Intron CCTCATATTCCGTGCTGGTGA 0.328000 16 28 0 0 1 0 0 DIP2C 22982 broad.mit.edu 37 10 532416 532416 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:532416T>C ENST00000280886.6 - 2 227 c.140A>G c.(139-141)tAc>tGc p.Y47C DIP2C_ENST00000381496.3_5'UTR NM_014974.2 NP_055789.1 Q9Y2E4 DIP2C_HUMAN DIP2 disco-interacting protein 2 homolog C (Drosophila) 47 nucleus catalytic activity|transcription factor binding breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.136) Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106) CTGCGGAAGGTAGGCTCCAAT 0.473000 31 92 0 0 1 0 0 NEFM 4741 broad.mit.edu 37 8 24771438 24771438 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:24771438G>A ENST00000221166.5 + 1 914 c.132G>A c.(130-132)tcG>tcA p.S44S GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000437366.2_Silent_p.S44S|NEFM_ENST00000518131.1_Silent_p.S44S P07197 NFM_HUMAN neurofilament, medium polypeptide 44 Head. neurofilament protein binding|structural constituent of cytoskeleton breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1) 36 Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) CCCGCGGCTCGCCCAGCACCG 0.692000 28 75 0 0 1 0 0 RNF145 153830 broad.mit.edu 37 5 158603773 158603773 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:158603773A>G ENST00000424310.2 - 5 847 c.488T>C c.(487-489)gTt>gCt p.V163A RNF145_ENST00000518802.1_Missense_Mutation_p.V193A|RNF145_ENST00000519865.1_Missense_Mutation_p.V163A|RNF145_ENST00000520638.1_Missense_Mutation_p.V177A|RNF145_ENST00000274542.2_Missense_Mutation_p.V191A|RNF145_ENST00000521606.2_Missense_Mutation_p.V180A NM_001199383.1 NP_001186312.1 Q96MT1 RN145_HUMAN ring finger protein 145 163 integral to membrane zinc ion binding endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 30 Renal(175;0.00196) Medulloblastoma(196;0.0523) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CTCCAAAGGAACAAGGCAGAG 0.388000 10 25 0 0 1 0 0 RIPK2 8767 broad.mit.edu 37 8 90802310 90802310 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:90802310G>A ENST00000220751.4 + 11 1603 c.1289G>A c.(1288-1290)cGt>cAt p.R430H RIPK2_ENST00000540020.1_Missense_Mutation_p.R293H NM_003821.5 NP_003812.1 O43353 RIPK2_HUMAN receptor-interacting serine-threonine kinase 2 430 activation of MAPK activity|anti-apoptosis|apoptosis|inflammatory response|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|stress-activated MAPK cascade|T cell receptor signaling pathway|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 ATP binding|CARD domain binding|LIM domain binding|protein homodimerization activity|protein serine/threonine kinase activity|signal transducer activity kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2) 10 BRCA - Breast invasive adenocarcinoma(11;0.0474) TTTTCAGAACGTCTGCAGCCT 0.383000 30 50 0 0 1 0 0 NR2F6 2063 broad.mit.edu 37 19 17343360 17343360 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:17343360A>G ENST00000291442.3 - 4 1735 c.1016T>C c.(1015-1017)gTg>gCg p.V339A NM_005234.3 NP_005225.2 P10588 NR2F6_HUMAN nuclear receptor subfamily 2, group F, member 6 339 Important for dimerization (By similarity).|Ligand-binding (By similarity). negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(1)|lung(1) 5 CTGCGCCCGCACATACTCGGT 0.697000 12 34 0 0 1 0 0 PREPL 9581 broad.mit.edu 37 2 44586917 44586917 + Translation_Start_Site SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:44586917T>C ENST00000409936.1 - 0 375 PREPL_ENST00000410081.1_Intron|PREPL_ENST00000409411.1_Intron|PREPL_ENST00000409957.1_Intron|PREPL_ENST00000409272.1_Intron|PREPL_ENST00000540817.1_Intron|PREPL_ENST00000260648.6_De_novo_Start_OutOfFrame|PREPL_ENST00000541738.1_Intron NM_001171606.1 NP_001165077.1 Q4J6C6 PPCEL_HUMAN prolyl endopeptidase-like proteolysis cytosol serine-type endopeptidase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2) 33 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) ATTTTATAGGTATGATTACAG 0.428000 5 25 0 0 1 0 0 NAPSA 9476 broad.mit.edu 37 19 50864944 50864944 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:50864944T>C ENST00000253719.2 - 4 652 c.444A>G c.(442-444)ggA>ggG p.G148G NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron NM_004851.1 NP_004842.1 O96009 NAPSA_HUMAN napsin A aspartic peptidase 148 proteolysis extracellular region aspartic-type endopeptidase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3) 12 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183) CGCTCAGGATTCCATCTACCC 0.512000 10 179 0 0 1 0 0 DPY19L2 283417 broad.mit.edu 37 12 64061862 64061862 + Missense_Mutation SNP G G C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:64061862G>C ENST00000324472.4 - 1 495 c.312C>G c.(310-312)ttC>ttG p.F104L RP11-415I12.3_ENST00000509615.2_RNA NM_173812.4 NP_776173.3 Q6NUT2 D19L2_HUMAN dpy-19-like 2 (C. elegans) 104 multicellular organismal development|spermatid development integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GBM - Glioblastoma multiforme(1;2.77e-05) GBM - Glioblastoma multiforme(28;0.044) TTCTGCTGGAGAACCGCCGCG 0.592000 54 115 0 0 1 0 0 IRX5 10265 broad.mit.edu 37 16 54967744 54967744 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:54967744G>A ENST00000394636.4 + 3 1748 c.1411G>A c.(1411-1413)Gac>Aac p.D471N IRX5_ENST00000560154.1_Missense_Mutation_p.D251N|IRX5_ENST00000320990.5_Missense_Mutation_p.D470N|IRX5_ENST00000558597.1_Missense_Mutation_p.D405N P78411 IRX5_HUMAN iroquois homeobox 5 471 response to stimulus|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding kidney(3)|large_intestine(6)|lung(4)|prostate(1) 14 CCTGTGCAAAGACTCTCCCTA 0.468000 31 119 0 0 1 0 0 CNOT2 4848 broad.mit.edu 37 12 70723272 70723272 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:70723272G>A ENST00000229195.3 + 5 887 c.308G>A c.(307-309)gGc>gAc p.G103D CNOT2_ENST00000418359.3_Missense_Mutation_p.G103D|CNOT2_ENST00000548230.1_3'UTR NM_014515.5 NP_055330.1 Q9NZN8 CNOT2_HUMAN CCR4-NOT transcription complex, subunit 2 103 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter cytosol|nucleus protein binding|RNA polymerase II transcription cofactor activity p.G103D(1) cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1) 20 Renal(347;0.236) GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118) TTATCACAAGGCACTCAGTTA 0.458000 17 78 0 0 1 0 0 GTSE1 51512 broad.mit.edu 37 22 46704755 46704755 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr22:46704755C>T ENST00000454366.1 + 4 889 c.677C>T c.(676-678)gCg>gTg p.A226V NM_016426.6 NP_057510.4 Q9NYZ3 GTSE1_HUMAN G-2 and S-phase expressed 1 207 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process cytoplasmic microtubule NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 27 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00462) AGTCAGGCAGCGACTCAGAGG 0.632000 50 165 0 0 1 0 0 EGLN2 112398 broad.mit.edu 37 19 41312467 41312467 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:41312467T>C ENST00000593726.1 + 2 1879 c.851T>C c.(850-852)gTg>gCg p.V284A EGLN2_ENST00000594140.1_Missense_Mutation_p.V2A|CTC-490E21.12_ENST00000601627.1_Intron|EGLN2_ENST00000406058.2_Missense_Mutation_p.V284A|EGLN2_ENST00000303961.4_Missense_Mutation_p.V284A|RAB4B-EGLN2_ENST00000594136.1_3'UTR Q96KS0 EGLN2_HUMAN egl-9 family hypoxia-inducible factor 2 284 Fe2OG dioxygenase. cell redox homeostasis|estrogen receptor signaling pathway|positive regulation of protein catabolic process|regulation of cell growth|response to hypoxia cytoplasm|nucleus ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|oxygen sensor activity breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2) 10 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) Vitamin C(DB00126) CAGGCCATGGTGGCGTGTTAC 0.557000 OREG0025478 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 132 0 0 1 0 0 PRKAB1 5564 broad.mit.edu 37 12 120112203 120112203 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:120112203A>G ENST00000229328.5 + 4 968 c.476A>G c.(475-477)gAc>gGc p.D159G PRKAB1_ENST00000541640.1_Missense_Mutation_p.D159G|PRKAB1_ENST00000540121.1_5'UTR NM_006253.4 NP_006244.2 Q9Y478 AAKB1_HUMAN protein kinase, AMP-activated, beta 1 non-catalytic subunit 159 cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid oxidation cytosol endometrium(2)|large_intestine(3)|lung(5) 10 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.166) Adenosine monophosphate(DB00131)|Metformin(DB00331) AAGAAAACTGACTTTGAAGTA 0.443000 21 96 0 0 1 0 0 B3GNT3 10331 broad.mit.edu 37 19 17922448 17922448 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:17922448C>T ENST00000318683.6 + 3 783 c.636C>T c.(634-636)gaC>gaT p.D212D B3GNT3_ENST00000595387.1_Silent_p.D212D NM_014256.3 NP_055071.2 Q9Y2A9 B3GN3_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 212 protein glycosylation Golgi membrane|integral to plasma membrane galactosyltransferase activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 21 GGGATGATGACGTCTTTGCAC 0.587000 19 56 0 0 1 0 0 NCOR2 9612 broad.mit.edu 37 12 124820112 124820112 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:124820112A>G ENST00000356219.3 - 40 6358 c.6203T>C c.(6202-6204)cTg>cCg p.L2068P NCOR2_ENST00000429285.2_Missense_Mutation_p.L2051P|NCOR2_ENST00000405201.1_Missense_Mutation_p.L2061P|NCOR2_ENST00000404121.2_Missense_Mutation_p.L1622P|NCOR2_ENST00000404621.1_Missense_Mutation_p.L2051P|NCOR2_ENST00000397355.1_Missense_Mutation_p.L2052P NM_006312.5 NP_006303.4 Q9Y618 NCOR2_HUMAN nuclear receptor corepressor 2 2072 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) GTCGTGGGTCAGACTGGGTGA 0.677000 15 51 0 0 1 0 0 GARNL3 84253 broad.mit.edu 37 9 130151298 130151298 + Silent SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:130151298C>A ENST00000373387.4 + 26 2995 c.2643C>A c.(2641-2643)ccC>ccA p.P881P GARNL3_ENST00000496711.1_3'UTR|GARNL3_ENST00000314904.5_3'UTR|GARNL3_ENST00000435213.2_Silent_p.P859P NM_032293.4 NP_115669.3 Q5VVW2 GARL3_HUMAN GTPase activating Rap/RanGAP domain-like 3 881 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity|small GTPase regulator activity NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2) 41 CACCCACTCCCATCAGTGTGG 0.527000 30 76 2.65835e-16 2.79074e-16 1 1 0 SCYL2 55681 broad.mit.edu 37 12 100709378 100709378 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:100709378T>C ENST00000360820.2 + 9 1575 c.1138T>C c.(1138-1140)Ttt>Ctt p.F380L NM_017988.4 NP_060458.3 Q6P3W7 SCYL2_HUMAN SCY1-like 2 (S. cerevisiae) 380 endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm ATP binding|protein kinase activity|receptor binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1) 41 GACTTCAGAATTTGTAAACCC 0.308000 28 120 0 0 1 0 0 ZNF791 163049 broad.mit.edu 37 19 12738816 12738816 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:12738816A>G ENST00000343325.4 + 4 635 c.473A>G c.(472-474)aAa>aGa p.K158R ZNF791_ENST00000458122.3_Missense_Mutation_p.K126R|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000540038.1_Missense_Mutation_p.K49R|ZNF791_ENST00000446165.1_3'UTR NM_153358.2 NP_699189.2 Q3KP31 ZN791_HUMAN zinc finger protein 791 158 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3) 19 ACTGGAGAAAAACCCTATAAA 0.373000 12 83 0 0 1 0 0 TRPC5 7224 broad.mit.edu 37 X 111155911 111155911 + Missense_Mutation SNP G G C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chrX:111155911G>C ENST00000262839.2 - 3 1426 c.508C>G c.(508-510)Cgg>Ggg p.R170G NM_012471.2 NP_036603.1 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, subfamily C, member 5 170 axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 TGGTGGGGCCGTGGGATAGTG 0.527000 3 69 0 0 1 0 0 GIPC1 10755 broad.mit.edu 37 19 14589555 14589555 + Missense_Mutation SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:14589555G>T ENST00000393033.4 - 8 1060 c.791C>A c.(790-792)gCc>gAc p.A264D GIPC1_ENST00000586027.1_Missense_Mutation_p.A264D|GIPC1_ENST00000393028.1_Missense_Mutation_p.A167D|GIPC1_ENST00000345425.2_Missense_Mutation_p.A264D|GIPC1_ENST00000393029.3_Missense_Mutation_p.A167D|GIPC1_ENST00000591349.1_Missense_Mutation_p.A167D NM_005716.3 NP_005707.1 O14908 GIPC1_HUMAN GIPC PDZ domain containing family, member 1 264 endothelial cell migration|G-protein coupled receptor protein signaling pathway|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane actin binding|myosin binding|protein homodimerization activity|receptor binding endometrium(1)|lung(4)|upper_aerodigestive_tract(1) 6 CTTCTCAATGGCCTTCTCTTC 0.557000 91 227 6.07207e-39 6.43891e-39 1 1 0 MRPL2 51069 broad.mit.edu 37 6 43022195 43022195 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:43022195G>A ENST00000230413.5 - 6 673 c.661C>T c.(661-663)Ccg>Tcg p.P221S MRPL2_ENST00000489623.1_Missense_Mutation_p.P99S|MRPL2_ENST00000388752.3_Silent_p.G245G Q5T653 RM02_HUMAN mitochondrial ribosomal protein L2 0 translation mitochondrion|ribosome structural constituent of ribosome breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(2) 9 Ovarian(999;0.0014) Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442) BRCA - Breast invasive adenocarcinoma(397;0.0026) TGGATACTCGGCCTACTGTTG 0.547000 22 74 0 0 1 0 0 VCPIP1 80124 broad.mit.edu 37 8 67578197 67578197 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:67578197T>C ENST00000310421.4 - 1 1255 c.997A>G c.(997-999)Act>Gct p.T333A NM_025054.4 NP_079330.2 Q96JH7 VCIP1_HUMAN valosin containing protein (p97)/p47 complex interacting protein 1 333 OTU. protein ubiquitination endoplasmic reticulum|Golgi stack ubiquitin-specific protease activity breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 Lung NSC(129;0.142)|all_lung(136;0.227) Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149) TCTTTCCCAGTGCACTTCTCT 0.463000 34 144 0 0 1 0 0 EPS8L1 54869 broad.mit.edu 37 19 55592177 55592177 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:55592177A>G ENST00000201647.6 + 7 523 c.467A>G c.(466-468)cAc>cGc p.H156R EPS8L1_ENST00000588359.1_Intron|EPS8L1_ENST00000245618.5_Missense_Mutation_p.H29R|EPS8L1_ENST00000586329.1_Missense_Mutation_p.H138R|EPS8L1_ENST00000540810.1_Missense_Mutation_p.H92R|EPS8L1_ENST00000592824.1_3'UTR NM_133180.2 NP_573441.2 Q8TE68 ES8L1_HUMAN EPS8-like 1 156 cytoplasm NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1) 12 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.044) GGGGCTCTGCACAATTACCGC 0.687000 10 28 0 0 1 0 0 PLXND1 23129 broad.mit.edu 37 3 129291683 129291683 + Splice_Site SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:129291683A>G ENST00000393239.1 - 14 3116 c.e14+1 PLXND1_ENST00000324093.4_Splice_Site Q9Y4D7 PLXD1_HUMAN plexin D1 axon guidance integral to membrane|intracellular|plasma membrane PLXND1/TMCC1(4) NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 72 GCCCCCCCTTACCACGTAGGA 0.687000 9 42 0 0 1 0 0 ARX 170302 broad.mit.edu 37 X 25033816 25033816 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chrX:25033816C>T ENST00000379044.4 - 1 249 c.39G>A c.(37-39)agG>agA p.R13R NM_139058.2 NP_620689.1 Q96QS3 ARX_HUMAN aristaless related homeobox 13 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(2)|lung(1) 4 TGCACTCGGGCCTCTCGGAGC 0.627000 3 3 0 0 1 0 0 HERC2P3 283755 broad.mit.edu 37 15 20645883 20645883 + RNA SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:20645883C>T ENST00000428453.1 - 0 2882 central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 GGTGTTGCTCCCTGTACACCA 0.537000 13 69 0 0 1 0 0 HDAC9 9734 broad.mit.edu 37 7 18767277 18767277 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:18767277A>G ENST00000406451.3 + 13 1947 c.1797A>G c.(1795-1797)ggA>ggG p.G599G HDAC9_ENST00000441542.2_Silent_p.G602G|HDAC9_ENST00000432645.2_Silent_p.G599G|HDAC9_ENST00000401921.1_Silent_p.G558G NM_178423.1|NM_178425.2 NP_848510.1|NP_848512.1 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 599 B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) GCATGGATGGATTAGAGAAAC 0.587000 6 32 0 0 1 0 0 TLE1 7088 broad.mit.edu 37 9 84205764 84205764 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:84205764G>A ENST00000376499.3 - 16 2849 c.1785C>T c.(1783-1785)gaC>gaT p.D595D NM_005077.3 NP_005068.2 Q04724 TLE1_HUMAN transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila) 595 negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway transcription factor binding NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 29 CGATGTTGCCGTCGCTGCAGC 0.607000 33 97 0 0 1 0 0 HOXC9 3225 broad.mit.edu 37 12 54394074 54394074 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:54394074T>C ENST00000303450.4 + 1 172 c.102T>C c.(100-102)caT>caC p.H34H HOXC9_ENST00000504557.1_Intron|HOXC9_ENST00000508190.1_Silent_p.H34H NM_006897.1 NP_008828.1 P31274 HXC9_HUMAN homeobox C9 34 multicellular organismal development nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(3)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 14 CCGGGGCTCATCCCGCCGCCG 0.632000 19 109 0 0 1 0 0 ZNF527 84503 broad.mit.edu 37 19 37871240 37871240 + Missense_Mutation SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:37871240G>T ENST00000436120.2 + 4 329 c.222G>T c.(220-222)atG>atT p.M74I ZNF527_ENST00000587349.1_Missense_Mutation_p.M74I|ZNF527_ENST00000483919.1_Missense_Mutation_p.M74I NM_032453.1 NP_115829.1 Q8NB42 ZN527_HUMAN zinc finger protein 527 74 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 33 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) AACCGTGGATGGTGGAGAGAA 0.478000 10 45 3.86212e-05 3.93362e-05 1 1 0 CREB3L3 84699 broad.mit.edu 37 19 4171733 4171733 + Nonsense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:4171733C>T ENST00000078445.2 + 10 1300 c.1153C>T c.(1153-1155)Cga>Tga p.R385* CREB3L3_ENST00000602257.1_Nonsense_Mutation_p.R383*|CREB3L3_ENST00000252587.3_Silent_p.P273P|CREB3L3_ENST00000595923.1_Nonsense_Mutation_p.R384*|CREB3L3_ENST00000602147.1_3'UTR NM_001271995.1|NM_001271996.1|NM_032607.1 NP_001258924.1|NP_001258925.1|NP_115996.1 Q68CJ9 CR3L3_HUMAN cAMP responsive element binding protein 3-like 3 385 response to unfolded protein endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3) 24 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18) CCCAGGACCCCGACCCGAGGC 0.642000 49 157 0 0 1 0 0 PRAMEF2 65122 broad.mit.edu 37 1 12921350 12921350 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:12921350A>G ENST00000240189.2 + 4 1228 c.1141A>G c.(1141-1143)Acc>Gcc p.T381A NM_023014.1 NP_075390.1 O60811 PRAM2_HUMAN PRAME family member 2 381 breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4) 42 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CCAGCTCACCACCTTCTACTT 0.577000 18 279 0 0 1 0 0 SOD3 6649 broad.mit.edu 37 4 24801537 24801537 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:24801537T>C ENST00000382120.3 + 2 599 c.394T>C c.(394-396)Tac>Cac p.Y132H NM_003102.2 NP_003093.2 P08294 SODE_HUMAN superoxide dismutase 3, extracellular 132 removal of superoxide radicals extracellular space|nucleus|soluble fraction copper ion binding|heparin binding|protein binding|superoxide dismutase activity|zinc ion binding prostate(1)|urinary_tract(1) 2 Breast(46;0.0503) CGGGCCCCACTACAACCCGCT 0.736000 3 22 0 0 1 0 0 TTYH3 80727 broad.mit.edu 37 7 2687628 2687628 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:2687628T>C ENST00000258796.7 + 5 867 c.662T>C c.(661-663)gTc>gCc p.V221A TTYH3_ENST00000403167.1_Missense_Mutation_p.V50A|TTYH3_ENST00000477439.1_3'UTR|TTYH3_ENST00000407643.1_Intron NM_025250.2 NP_079526.1 Q9C0H2 TTYH3_HUMAN tweety family member 3 221 chloride channel complex|plasma membrane chloride channel activity kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2) 17 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;2.04e-14) CTGCTGGACGTCATCATCTGC 0.706000 21 90 0 0 1 0 0 C2orf16 84226 broad.mit.edu 37 2 27800372 27800372 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:27800372C>T ENST00000408964.2 + 1 984 c.933C>T c.(931-933)ctC>ctT p.L311L NM_032266.3 NP_115642.3 Q68DN1 CB016_HUMAN chromosome 2 open reading frame 16 311 breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1) 47 Acute lymphoblastic leukemia(172;0.155) CCCCAAGGCTCTGTCCTCAAA 0.463000 33 96 0 0 1 0 0 PCDHB16 57717 broad.mit.edu 37 5 140563444 140563444 + Missense_Mutation SNP T T A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:140563444T>A ENST00000361016.2 + 1 2465 c.1310T>A c.(1309-1311)aTa>aAa p.I437K NM_020957.1 NP_066008.1 Q9NRJ7 PCDBG_HUMAN 437 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1) 69 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GAGCACAACATAACAGTGCAG 0.512000 5 194 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105418137 105418137 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:105418137G>A ENST00000333244.5 - 7 3770 c.3651C>T c.(3649-3651)tcC>tcT p.S1217S AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 1217 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CCAGGTCAGCGGAAGGGGGCT 0.647000 108 76 0 0 1 0 0 PRPF8 10594 broad.mit.edu 37 17 1554577 1554577 + Silent SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:1554577C>A ENST00000572621.1 - 41 6943 c.6678G>T c.(6676-6678)acG>acT p.T2226T PRPF8_ENST00000304992.6_Silent_p.T2226T Q6P2Q9 PRP8_HUMAN pre-mRNA processing factor 8 2226 MPN. catalytic step 2 spliceosome|nuclear speck|U5 snRNP protein binding|RNA binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 77 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) GCTTGTAGGCCGTCAGTGTAC 0.617000 8 53 1 1 1 1 0 RNF4 6047 broad.mit.edu 37 4 2515440 2515440 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:2515440A>G ENST00000511600.1 + 8 1982 c.467A>G c.(466-468)cAt>cGt p.H156R RNF4_ENST00000541204.1_Missense_Mutation_p.H156R|RNF4_ENST00000506706.1_Missense_Mutation_p.H156R|RNF4_ENST00000511859.1_Missense_Mutation_p.M103V|RNF4_ENST00000314289.8_Missense_Mutation_p.H156R P78317 RNF4_HUMAN ring finger protein 4 156 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination|regulation of kinetochore assembly|regulation of spindle assembly|response to arsenic-containing substance cytoplasm|PML body androgen receptor binding|DNA binding|nucleosome binding|sequence-specific DNA binding transcription factor activity|SUMO polymer binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|kidney(2)|lung(1) 5 all_epithelial(65;0.241) GAATGCGGCCATGTCTTCTGT 0.483000 36 104 0 0 1 0 0 SPRR3 6707 broad.mit.edu 37 1 152975621 152975621 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:152975621A>G ENST00000331860.3 + 3 275 c.125A>G c.(124-126)cAc>cGc p.H42R SPRR3_ENST00000295367.4_Missense_Mutation_p.H42R|SPRR3_ENST00000542696.1_Missense_Mutation_p.H42R NM_005416.2 NP_005407.1 Q9UBC9 SPRR3_HUMAN small proline-rich protein 3 42 keratinization|peptide cross-linking|wound healing cytoplasm protein binding|structural molecule activity endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 11 Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) GAGCCATGCCACTCAAAGGTT 0.547000 8 58 0 0 1 0 0 MAN2C1 4123 broad.mit.edu 37 15 75658881 75658881 + Missense_Mutation SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:75658881C>A ENST00000565683.1 - 4 415 c.404G>T c.(403-405)gGg>gTg p.G135V MAN2C1_ENST00000267978.5_Missense_Mutation_p.G135V|MAN2C1_ENST00000563539.1_5'UTR|MAN2C1_ENST00000563622.1_Missense_Mutation_p.G135V|MAN2C1_ENST00000569482.1_Missense_Mutation_p.G135V NM_001256494.1 NP_001243423.1 Q9NTJ4 MA2C1_HUMAN mannosidase, alpha, class 2C, member 1 135 mannose metabolic process alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 44 GTCTCTTTCCCCCAGCCTGTC 0.572000 6 28 3.59834e-05 3.66827e-05 1 1 0 TBC1D17 79735 broad.mit.edu 37 19 50384596 50384596 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:50384596C>T ENST00000221543.5 + 5 690 c.391C>T c.(391-393)Cgc>Tgc p.R131C TBC1D17_ENST00000535102.2_Missense_Mutation_p.R98C|TBC1D17_ENST00000598789.1_3'UTR NM_024682.2 NP_078958.2 Q9HA65 TBC17_HUMAN TBC1 domain family, member 17 131 intracellular Rab GTPase activator activity NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 15 all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017) GTCCATCCGCCGCTCCAAGCC 0.682000 16 24 0 0 1 0 0 DNMT3L 29947 broad.mit.edu 37 21 45668930 45668930 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr21:45668930C>T ENST00000270172.3 - 11 1457 c.974G>A c.(973-975)aGc>aAc p.S325N DNMT3L_ENST00000418993.1_Missense_Mutation_p.S325N NM_013369.3 NP_037501.2 Q9UJW3 DNM3L_HUMAN DNA (cytosine-5-)-methyltransferase 3-like 325 DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis cytosol enzyme activator activity|enzyme binding|metal ion binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3) 11 Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781) TGGGATGTTGCTCCACACGCG 0.612000 5 19 0 0 1 0 0 SF1 7536 broad.mit.edu 37 11 64537511 64537511 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:64537511C>T ENST00000377390.3 - 5 741 c.404G>A c.(403-405)cGt>cAt p.R135H SF1_ENST00000422298.2_Missense_Mutation_p.R20H|SF1_ENST00000227503.9_Missense_Mutation_p.R135H|SF1_ENST00000377387.1_Missense_Mutation_p.R260H|SF1_ENST00000377394.3_Missense_Mutation_p.R135H|SF1_ENST00000433274.2_Missense_Mutation_p.R109H|SF1_ENST00000334944.5_Missense_Mutation_p.R135H NM_004630.3 NP_004621.2 Q15637 SF01_HUMAN splicing factor 1 135 nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent ribosome|spliceosomal complex protein binding|RNA binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2) 31 ATCACTCACACGTGTTGCTGG 0.463000 7 37 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238244938 238244938 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:238244938C>T ENST00000295550.4 - 40 9257 c.8805G>A c.(8803-8805)gcG>gcA p.A2935A COL6A3_ENST00000472056.1_Silent_p.A2328A|COL6A3_ENST00000353578.4_Silent_p.A2729A|COL6A3_ENST00000346358.4_Silent_p.A2735A|COL6A3_ENST00000409809.1_Silent_p.A2729A|COL6A3_ENST00000347401.3_Silent_p.A2734A NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 2935 Ala-rich.|Nonhelical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) CTGGCTTCACCGCCACTGGGG 0.627000 42 133 0 0 1 0 0 EPS15L1 58513 broad.mit.edu 37 19 16547765 16547765 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:16547765C>T ENST00000597937.1 - 6 359 c.355G>A c.(355-357)Gcc>Acc p.A119T EPS15L1_ENST00000594975.1_Missense_Mutation_p.A119T|EPS15L1_ENST00000535753.2_Missense_Mutation_p.A119T|EPS15L1_ENST00000455140.2_Missense_Mutation_p.A119T|EPS15L1_ENST00000248070.6_Missense_Mutation_p.A119T NM_001258376.1 NP_001245305.1 Q9UBC2 EP15R_HUMAN epidermal growth factor receptor pathway substrate 15-like 1 119 endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|nucleus|plasma membrane calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2) 30 GCCCAGTGGGCCTCTGCAGAG 0.502000 12 100 0 0 1 0 0 CLDN16 10686 broad.mit.edu 37 3 190106202 190106202 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:190106202T>C ENST00000264734.2 + 1 542 c.294T>C c.(292-294)tgT>tgC p.C98C CLDN16_ENST00000468220.1_Intron|CLDN16_ENST00000456423.1_Silent_p.C98C NM_006580.3 NP_006571.1 Q9Y5I7 CLD16_HUMAN claudin 16 98 calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion integral to membrane|tight junction identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1) 19 all_cancers(143;3.61e-10)|Ovarian(172;0.0991) Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05) GBM - Glioblastoma multiforme(93;0.018) GGACTGACTGTTGGATGGTGA 0.473000 74 241 0 0 1 0 0 FAM46A 55603 broad.mit.edu 37 6 82459576 82459576 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:82459576A>G ENST00000369754.3 - 3 1534 c.1222T>C c.(1222-1224)Tta>Cta p.L408L FAM46A_ENST00000369756.3_Silent_p.L470L|FAM46A_ENST00000320172.6_Silent_p.L389L Q96IP4 FA46A_HUMAN family with sequence similarity 46, member A 389 endometrium(2)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1) 12 all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104) BRCA - Breast invasive adenocarcinoma(397;0.0428) TGGTCAGCTAACACCCGGATA 0.453000 38 82 0 0 1 0 0 ANKRD36BP1 84832 broad.mit.edu 37 1 168215989 168215989 + RNA SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:168215989T>C ENST00000358576.4 - 0 592 NR_026844.1 lung(1) 1 TTCTCCAGTTTAGAACGGAGC 0.403000 3 15 0 0 1 0 0 SLC8A3 6547 broad.mit.edu 37 14 70634742 70634742 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:70634742A>G ENST00000381269.2 - 2 1151 c.398T>C c.(397-399)gTc>gCc p.V133A SLC8A3_ENST00000534137.1_Missense_Mutation_p.V133A|SLC8A3_ENST00000357887.3_Missense_Mutation_p.V133A|SLC8A3_ENST00000356921.2_Missense_Mutation_p.V133A|SLC8A3_ENST00000528359.1_Missense_Mutation_p.V133A NM_058240.2|NM_183002.1 NP_489479.1|NP_892114.1 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 3 133 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) CAGGTTGGAGACAGTTTCATT 0.483000 18 53 0 0 1 0 0 MATN2 4147 broad.mit.edu 37 8 98943520 98943520 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:98943520T>C ENST00000254898.5 + 3 713 c.482T>C c.(481-483)gTg>gCg p.V161A MATN2_ENST00000524308.1_Missense_Mutation_p.V161A|MATN2_ENST00000521689.1_Missense_Mutation_p.V161A|MATN2_ENST00000522025.2_Intron|MATN2_ENST00000520016.1_Missense_Mutation_p.V161A NM_002380.3|NM_030583.2 NP_002371.3|NP_085072.2 O00339 MATN2_HUMAN matrilin 2 161 VWFA 1. proteinaceous extracellular matrix calcium ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1) 31 Breast(36;1.43e-06) OV - Ovarian serous cystadenocarcinoma(57;0.244) AGGGAGAATGTGCCACGGGTC 0.602000 4 64 0 0 1 0 0 FAM212B 55924 broad.mit.edu 37 1 112269753 112269753 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:112269753C>T ENST00000357260.5 - 2 912 c.731G>A c.(730-732)cGc>cAc p.R244H FAM212B_ENST00000444059.2_Missense_Mutation_p.R229H|FAM212B_ENST00000534365.1_Intron NM_019099.4 NP_061972.1 Q9NTI7 CA183_HUMAN family with sequence similarity 212, member B 244 cervix(1)|endometrium(1) 2 CTTCTGTGAGCGGCCGGTTCG 0.617000 35 119 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56471259 56471259 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:56471259T>C ENST00000370754.5 - 39 8067 c.8068A>G c.(8068-8070)Act>Gct p.T2690A DST_ENST00000370769.4_Missense_Mutation_p.T2512A|DST_ENST00000312431.6_Missense_Mutation_p.T2512A|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000446842.2_Missense_Mutation_p.T2186A|DST_ENST00000361203.3_Missense_Mutation_p.T2512A|DST_ENST00000244364.6_Intron Q03001 DYST_HUMAN dystonin 2512 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TCTGATCCAGTTTCCAGTGAC 0.378000 12 45 0 0 1 0 0 MTNR1B 4544 broad.mit.edu 37 11 92714938 92714938 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:92714938C>T ENST00000257068.2 + 2 555 c.549C>T c.(547-549)taC>taT p.Y183Y NM_005959.3 NP_005950.1 P49286 MTR1B_HUMAN melatonin receptor 1B 183 G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission integral to plasma membrane melatonin receptor activity p.Y183Y(1) central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1) 33 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) Ramelteon(DB00980) CCCTGGAGTACGACCCACGCA 0.607000 15 58 0 0 1 0 0 INTS3 65123 broad.mit.edu 37 1 153744404 153744404 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:153744404C>T ENST00000456435.1 + 26 3253 c.2067C>T c.(2065-2067)ctC>ctT p.L689L INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000318967.2_Silent_p.L895L|INTS3_ENST00000435409.2_Silent_p.L895L|INTS3_ENST00000512605.1_Silent_p.L689L Q68E01 INT3_HUMAN integrator complex subunit 3 896 DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing integrator complex|SOSS complex protein binding breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) AGTCCCTGCTCATCAAGAACA 0.612000 OREG0013827 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 37 0 0 1 0 0 XPR1 9213 broad.mit.edu 37 1 180832973 180832973 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:180832973A>G ENST00000367590.4 + 12 1829 c.1631A>G c.(1630-1632)aAc>aGc p.N544S XPR1_ENST00000367589.3_Missense_Mutation_p.N479S NM_004736.3 NP_004727.2 Q9UBH6 XPR1_HUMAN xenotropic and polytropic retrovirus receptor 1 544 EXS. integral to plasma membrane G-protein coupled receptor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 35 GCTGGAGAGAACACTTTCCTC 0.398000 30 76 0 0 1 0 0 LRRC4B 94030 broad.mit.edu 37 19 51022098 51022098 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:51022098G>A ENST00000599957.1 - 3 1069 c.872C>T c.(871-873)tCg>tTg p.S291L LRRC4B_ENST00000389201.3_Missense_Mutation_p.S291L Q9NT99 LRC4B_HUMAN leucine rich repeat containing 4B 291 cell junction|integral to membrane|presynaptic membrane breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1) 30 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188) GTGGGGCAGCGACATCAGGTT 0.637000 23 111 0 0 1 0 0 PODXL 5420 broad.mit.edu 37 7 131193775 131193775 + Missense_Mutation SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:131193775C>A ENST00000541194.1 - 5 1299 c.1042G>T c.(1042-1044)Gat>Tat p.D348Y PODXL_ENST00000378555.3_Missense_Mutation_p.D346Y|PODXL_ENST00000537928.1_Intron|PODXL_ENST00000322985.9_Missense_Mutation_p.D314Y NM_001018111.2 NP_001018121.1 O00592 PODXL_HUMAN podocalyxin-like 346 cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 24 Melanoma(18;0.162) GTCTCAAGATCCTCACACTTT 0.507000 5 119 1.23904e-05 1.26627e-05 1 1 0 KIF6 221458 broad.mit.edu 37 6 39313554 39313554 + Missense_Mutation SNP G G C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:39313554G>C ENST00000287152.7 - 21 2337 c.2243C>G c.(2242-2244)gCc>gGc p.A748G KIF6_ENST00000541946.1_Missense_Mutation_p.A199G|KIF6_ENST00000373216.3_Missense_Mutation_p.A731G|KIF6_ENST00000373213.4_Missense_Mutation_p.A587G|KIF6_ENST00000229913.5_Missense_Mutation_p.A199G|KIF6_ENST00000373215.3_Missense_Mutation_p.A731G|KIF6_ENST00000394362.1_Missense_Mutation_p.A182G|KIF6_ENST00000538893.1_Missense_Mutation_p.A692G NM_145027.4 NP_659464.3 Q6ZMV9 KIF6_HUMAN kinesin family member 6 748 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 GATTTTCCTGGCATTCACATC 0.473000 13 38 0 0 1 0 0 NUP160 23279 broad.mit.edu 37 11 47861552 47861552 + Missense_Mutation SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:47861552A>T ENST00000378460.2 - 4 637 c.591T>A c.(589-591)gaT>gaA p.D197E NUP160_ENST00000530326.1_Missense_Mutation_p.D83E|NUP160_ENST00000532747.1_Intron|NUP160_ENST00000526870.1_3'UTR|NUP160_ENST00000528071.1_Missense_Mutation_p.D83E NM_015231.1 NP_056046.1 Q12769 NU160_HUMAN nucleoporin 160kDa 197 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2) 53 AGTTGCAAGGATCTGTGAAAT 0.418000 12 107 0 0 1 0 0 VWA8 23078 broad.mit.edu 37 13 42457576 42457576 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr13:42457576A>G ENST00000379310.3 - 9 1095 c.1027T>C c.(1027-1029)Tat>Cat p.Y343H VWA8_ENST00000281496.6_Missense_Mutation_p.Y343H NM_015058.1 NP_055873.1 von Willebrand factor A domain containing 8 AAAATACTATATGGATAAAGC 0.373000 15 60 0 0 1 0 0 LAD1 3898 broad.mit.edu 37 1 201356220 201356220 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:201356220C>T ENST00000391967.2 - 3 570 c.269G>A c.(268-270)aGa>aAa p.R90K LAD1_ENST00000367313.3_Missense_Mutation_p.R104K NM_005558.3 NP_005549.2 O00515 LAD1_HUMAN ladinin 1 90 basement membrane structural molecule activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2) 19 CTGCCGTGTTCTGAGGATGCT 0.622000 19 31 0 0 1 0 0 CLDN11 5010 broad.mit.edu 37 3 170150423 170150423 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:170150423G>A ENST00000064724.3 + 3 705 c.503G>A c.(502-504)tGc>tAc p.C168Y CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000489485.1_3'UTR|CLDN11_ENST00000486975.1_Intron NM_005602.5 NP_005593.2 O75508 CLD11_HUMAN claudin 11 168 calcium-independent cell-cell adhesion integral to membrane|tight junction identical protein binding|structural molecule activity central_nervous_system(2)|endometrium(2)|large_intestine(1)|liver(2)|lung(3)|ovary(2) 12 all_cancers(22;5.62e-23)|all_epithelial(15;7.54e-28)|all_lung(20;2.51e-17)|Lung NSC(18;1.02e-16)|Ovarian(172;0.000567)|Breast(254;0.137) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197) GCTGTGCTGTGCCTCGTGGGT 0.587000 37 111 0 0 1 0 0 FLT1 2321 broad.mit.edu 37 13 28877396 28877396 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr13:28877396A>G ENST00000282397.4 - 30 4176 c.3925T>C c.(3925-3927)Tac>Cac p.Y1309H FLT1_ENST00000540678.1_Missense_Mutation_p.Y527H|FLT1_ENST00000543394.1_Missense_Mutation_p.Y332H NM_002019.4 NP_002010.2 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 1309 cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 115 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) GCGTGGTCGTAGGTGAACCTG 0.577000 11 98 0 0 1 0 0 PTBP2 58155 broad.mit.edu 37 1 97272452 97272452 + Missense_Mutation SNP T T A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:97272452T>A ENST00000236228.6 + 11 1191 c.1109T>A c.(1108-1110)aTt>aAt p.I370N PTBP2_ENST00000394184.3_Missense_Mutation_p.I386N|PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000370198.1_Missense_Mutation_p.I375N|PTBP2_ENST00000426398.2_Missense_Mutation_p.I370N|PTBP2_ENST00000370197.1_Missense_Mutation_p.I375N|PTBP2_ENST00000541987.1_3'UTR NM_021190.2 NP_067013.1 Q9UKA9 PTBP2_HUMAN polypyrimidine tract binding protein 2 370 RRM 3. nucleotide binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1) 26 all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171) all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202) CGTGTGAAGATTTTATACAAT 0.343000 16 59 0 0 1 0 0 MAP3K4 4216 broad.mit.edu 37 6 161507695 161507695 + Missense_Mutation SNP T T G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:161507695T>G ENST00000392142.4 + 9 2700 c.2552T>G c.(2551-2553)gTc>gGc p.V851G MAP3K4_ENST00000348824.7_Missense_Mutation_p.V851G|MAP3K4_ENST00000366920.2_Missense_Mutation_p.V851G|MAP3K4_ENST00000366919.2_Missense_Mutation_p.V851G NM_005922.2 NP_005913.2 Q9Y6R4 M3K4_HUMAN mitogen-activated protein kinase kinase kinase 4 851 activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1) 77 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) AAACAGTATGTCAAGGTAAGT 0.378000 3 46 0 0 1 0 0 KIF18B 146909 broad.mit.edu 37 17 43003861 43003861 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:43003861T>C ENST00000587309.1 - 15 2432 c.2409A>G c.(2407-2409)tcA>tcG p.S803S KIF18B_ENST00000339151.4_Silent_p.S794S|KIF18B_ENST00000438933.2_Silent_p.S803S|KIF18B_ENST00000593135.1_Silent_p.S791S|KIF18B_ENST00000590129.1_Silent_p.S812S NM_001264573.1 NP_001251503.1 kinesin family member 18B breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2) 21 Prostate(33;0.155) CATGGGAGACTGAGGAACTGA 0.587000 3 12 0 0 1 0 0 STXBP6 29091 broad.mit.edu 37 14 25288463 25288463 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:25288463G>A ENST00000548369.1 - 1 220 c.83C>T c.(82-84)cCg>cTg p.P28L STXBP6_ENST00000358326.2_Intron|STXBP6_ENST00000396700.1_Intron|STXBP6_ENST00000550887.1_Intron|STXBP6_ENST00000419632.2_Intron|STXBP6_ENST00000323944.5_Intron|STXBP6_ENST00000546511.1_Intron|STXBP6_ENST00000548724.1_Intron Q8NFX7 STXB6_HUMAN syntaxin binding protein 6 (amisyn) 0 vesicle-mediated transport cytoplasm|integral to membrane central_nervous_system(2)|endometrium(2)|large_intestine(3) 7 GBM - Glioblastoma multiforme(265;0.0296) ACCAGACTCCGGCAGGGTGAG 0.532000 17 42 0 0 1 0 0 PRIMA1 145270 broad.mit.edu 37 14 94245529 94245529 + Silent SNP G G A rs145840548 byFrequency TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:94245529G>A ENST00000393140.1 - 3 324 c.222C>T c.(220-222)tcC>tcT p.S74S PRIMA1_ENST00000316227.3_Silent_p.S74S|PRIMA1_ENST00000393143.1_Silent_p.S74S NM_178013.3 NP_821092.1 Q86XR5 PRIMA_HUMAN proline rich membrane anchor 1 74 neurotransmitter catabolic process cell junction|integral to membrane|synapse endometrium(1)|large_intestine(2)|lung(3)|skin(1) 7 all_cancers(154;0.127) Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229) TACCTggggcggagaggagtc 0.652000 7 20 0 0 1 0 0 DHDH 27294 broad.mit.edu 37 19 49439398 49439398 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:49439398G>A ENST00000221403.2 + 3 352 c.312G>A c.(310-312)gcG>gcA p.A104A DHDH_ENST00000523250.1_Intron|DHDH_ENST00000522614.1_Silent_p.A104A NM_014475.3 NP_055290.1 Q9UQ10 DHDH_HUMAN dihydrodiol dehydrogenase (dimeric) 104 carbohydrate metabolic process binding|D-xylose 1-dehydrogenase (NADP+) activity|electron carrier activity|NAD(P)+ transhydrogenase activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity central_nervous_system(1)|large_intestine(3)|lung(3)|ovary(1)|soft_tissue(1) 9 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000158)|all cancers(93;0.000258)|Epithelial(262;0.0173)|GBM - Glioblastoma multiforme(486;0.0179) TGAACGCGGCGGAAGTTCGCG 0.642000 8 19 0 0 1 0 0 LRRN1 57633 broad.mit.edu 37 3 3887524 3887524 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:3887524C>T ENST00000319331.3 + 2 1960 c.1199C>T c.(1198-1200)gCc>gTc p.A400V SUMF1_ENST00000534863.1_Intron NM_020873.5 NP_065924.3 Q6UXK5 LRRN1_HUMAN leucine rich repeat neuronal 1 400 LRRCT. integral to membrane NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2) 26 Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617) ATGTTCTGTGCCATGCCGCCC 0.488000 29 101 0 0 1 0 0 ASAP2 8853 broad.mit.edu 37 2 9347300 9347300 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:9347300G>A ENST00000281419.3 + 1 407 c.67G>A c.(67-69)Gcc>Acc p.A23T ASAP2_ENST00000315273.4_Missense_Mutation_p.A23T NM_003887.2 NP_003878.1 O43150 ASAP2_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 23 regulation of ARF GTPase activity Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|protein binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 36 GGCGCCCACGGCCTCCAGCTT 0.716000 14 32 0 0 1 0 0 FRMD4A 55691 broad.mit.edu 37 10 13701455 13701455 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:13701455G>A ENST00000357447.2 - 21 2302 c.1934C>T c.(1933-1935)gCg>gTg p.A645V FRMD4A_ENST00000378503.1_Missense_Mutation_p.A645V|FRMD4A_ENST00000358621.4_Missense_Mutation_p.A630V NM_018027.3 NP_060497.3 Q9P2Q2 FRM4A_HUMAN FERM domain containing 4A 645 Ser-rich. cytoplasm|cytoskeleton binding p.A645V(1) breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 41 GCCGGCTTCCGCACAGCTTCC 0.657000 23 91 0 0 1 0 0 MAML2 84441 broad.mit.edu 37 11 95718778 95718778 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:95718778T>C ENST00000524717.1 - 4 3656 c.2372A>G c.(2371-2373)aAc>aGc p.N791S NM_032427.1 NP_115803.1 Q8IZL2 MAML2_HUMAN mastermind-like 2 (Drosophila) 791 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity CRTC3/MAML2(26)|CRTC1/MAML2(516) breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 43 Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837) CAAATGTCGGTTTATCTGATC 0.348000 T """MECT1, CRTC3""" salivary gland mucoepidermoid 4 23 0 0 1 0 0 ACER3 55331 broad.mit.edu 37 11 76687369 76687369 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:76687369A>G ENST00000532485.1 + 4 408 c.304A>G c.(304-306)Ata>Gta p.I102V ACER3_ENST00000526597.1_Missense_Mutation_p.I7V|ACER3_ENST00000533873.1_Missense_Mutation_p.I65V|CTD-2547H18.1_ENST00000530190.1_RNA|ACER3_ENST00000538157.1_Missense_Mutation_p.I60V|ACER3_ENST00000530182.1_3'UTR NM_018367.5 NP_060837.3 Q9NUN7 ACER3_HUMAN alkaline ceramidase 3 102 ceramide metabolic process|phytosphingosine biosynthetic process|positive regulation of cell proliferation|sphingosine biosynthetic process integral to endoplasmic reticulum membrane|integral to Golgi membrane phytoceramidase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1) 9 CAGCTGTTGCATATTTGTGTA 0.279000 8 30 0 0 1 0 0 ZNF334 55713 broad.mit.edu 37 20 45130425 45130425 + Missense_Mutation SNP T T G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:45130425T>G ENST00000457685.2 - 6 2762 c.1439A>C c.(1438-1440)gAg>gCg p.E480A ZNF334_ENST00000347606.4_Missense_Mutation_p.E518A|ZNF334_ENST00000593880.1_Missense_Mutation_p.E541A Q9HCZ1 ZN334_HUMAN zinc finger protein 334 518 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0122) TTCACTACACTCATAAAGATT 0.403000 11 237 0 0 1 0 0 SLFN11 91607 broad.mit.edu 37 17 33679526 33679526 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:33679526T>C ENST00000394566.1 - 7 2827 c.2555A>G c.(2554-2556)gAc>gGc p.D852G SLFN11_ENST00000308377.4_Missense_Mutation_p.D852G NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1 NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1 Q7Z7L1 SLN11_HUMAN schlafen family member 11 852 nucleus ATP binding autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2) 50 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CCGAACACTGTCCAACACAAT 0.478000 54 184 0 0 1 0 0 NRXN3 9369 broad.mit.edu 37 14 80163993 80163993 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:80163993A>G ENST00000281127.7 + 4 1501 c.622A>G c.(622-624)Aac>Gac p.N208D NRXN3_ENST00000428277.2_Missense_Mutation_p.N238D|NRXN3_ENST00000556003.1_Intron|NRXN3_ENST00000335750.5_Missense_Mutation_p.N840D|NRXN3_ENST00000554719.1_Missense_Mutation_p.N840D|NRXN3_ENST00000557594.1_Missense_Mutation_p.N208D|RP11-242P2.1_ENST00000553322.1_RNA NM_138970.3 NP_620426.2 Q9HDB5 NRX3B_HUMAN neurexin 3 208 Laminin G-like. angiogenesis|cell adhesion integral to membrane NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1) 104 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) AACCATCTTCAACACTCAGGC 0.468000 8 81 0 0 1 0 0 SEMA7A 8482 broad.mit.edu 37 15 74704350 74704350 + Missense_Mutation SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:74704350C>A ENST00000261918.4 - 11 1846 c.1298G>T c.(1297-1299)aGg>aTg p.R433M SEMA7A_ENST00000543145.2_Missense_Mutation_p.R419M|SEMA7A_ENST00000542748.1_Missense_Mutation_p.R268M NM_003612.3 NP_003603.1 O75326 SEM7A_HUMAN semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group) 433 Sema. axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response anchored to membrane|external side of plasma membrane receptor activity breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1) 30 GATAGTGCCCCTGTCTGTGTA 0.637000 13 73 4.36969e-10 4.52622e-10 1 1 0 MSANTD2 79684 broad.mit.edu 37 11 124637523 124637523 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:124637523T>C ENST00000526629.1 - 3 1986 c.539A>G c.(538-540)tAt>tGt p.Y180C MSANTD2_ENST00000374979.3_Missense_Mutation_p.Y410C|MSANTD2_ENST00000239614.4_Missense_Mutation_p.Y358C|MSANTD2_ENST00000524950.1_3'UTR Q6P1R3 CK061_HUMAN Myb/SANT-like DNA-binding domain containing 2 410 AGGCAATAAATATTGAACAAC 0.473000 5 98 0 0 1 0 0 PDXDC2P 283970 broad.mit.edu 37 16 70010595 70010595 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:70010595A>G ENST00000532298.1 - 7 682 c.683T>C c.(682-684)tTg>tCg p.L228S PDXDC2P_ENST00000531894.1_RNA breast(2)|endometrium(2)|kidney(6)|lung(2)|prostate(1) 13 CCAGTAGGGCAATCCTGAAGA 0.483000 15 66 0 0 1 0 0 SLC5A2 6524 broad.mit.edu 37 16 31501677 31501677 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:31501677T>C ENST00000330498.3 + 14 1859 c.1840T>C c.(1840-1842)Ttt>Ctt p.F614L C16orf58_ENST00000327237.2_3'UTR|C16orf58_ENST00000567994.1_3'UTR|C16orf58_ENST00000570164.1_3'UTR|SLC5A2_ENST00000564197.1_Intron NM_003041.3 NP_003032.1 P31639 SC5A2_HUMAN solute carrier family 5 (sodium/glucose cotransporter), member 2 614 carbohydrate metabolic process integral to membrane low-affinity glucose:sodium symporter activity endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 25 CCTGCTCTGGTTTTGTGGAAT 0.652000 3 22 0 0 1 0 0 SLC29A1 2030 broad.mit.edu 37 6 44197128 44197128 + Splice_Site SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:44197128T>C ENST00000393841.1 + 4 522 c.29_splice c.e4-1 p.Y11_splice SLC29A1_ENST00000371755.3_Splice_Site_p.Y11_splice|SLC29A1_ENST00000393844.1_Splice_Site_p.Y11_splice|SLC29A1_ENST00000371724.1_Splice_Site_p.Y11_splice|SLC29A1_ENST00000371740.5_Splice_Site_p.Y11_splice|SLC29A1_ENST00000371713.1_Splice_Site_p.Y11_splice|SLC29A1_ENST00000371731.1_Splice_Site_p.Y11_splice|SLC29A1_ENST00000371708.1_Splice_Site_p.Y11_splice|SLC29A1_ENST00000313248.7_Splice_Site_p.Y90_splice|SLC29A1_ENST00000427851.2_Splice_Site_p.Y11_splice NM_001078177.1 NP_001071645.1 Q99808 S29A1_HUMAN solute carrier family 29 (equilibrative nucleoside transporter), member 1 11 nucleobase, nucleoside and nucleotide metabolic process apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction nucleoside transmembrane transporter activity|protein binding endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2) 17 all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) Troglitazone(DB00197) CCATTGCAGATACAAAGCTGT 0.557000 26 81 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53855647 53855647 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:53855647T>C ENST00000458035.1 + 4 1836 c.1719T>C c.(1717-1719)caT>caC p.H573H ZNF845_ENST00000595091.1_Silent_p.H573H NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 573 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 AAGCAATCCATGGTATAGGGA 0.398000 18 66 0 0 1 0 0 CLDND1 56650 broad.mit.edu 37 3 98240028 98240028 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:98240028A>G ENST00000503004.1 - 2 1120 c.241T>C c.(241-243)Tgt>Cgt p.C81R CLDND1_ENST00000507874.1_Missense_Mutation_p.C81R|CLDND1_ENST00000510545.1_Missense_Mutation_p.C81R|CLDND1_ENST00000511081.1_Intron|CLDND1_ENST00000513287.1_Missense_Mutation_p.C81R|CLDND1_ENST00000394181.2_Missense_Mutation_p.C81R|CLDND1_ENST00000394185.2_Missense_Mutation_p.C81R|CLDND1_ENST00000394180.2_Missense_Mutation_p.C81R|CLDND1_ENST00000508503.1_5'UTR|CLDND1_ENST00000502288.1_Intron|CLDND1_ENST00000437922.1_Missense_Mutation_p.C104R|CLDND1_ENST00000341181.6_Missense_Mutation_p.C81R Q9NY35 CLDN1_HUMAN claudin domain containing 1 81 integral to membrane central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1) 9 ATGGTGATACACCGTCTCCAC 0.383000 6 145 0 0 1 0 0 IFIT5 24138 broad.mit.edu 37 10 91178053 91178053 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:91178053G>A ENST00000371795.4 + 2 1310 c.1097G>A c.(1096-1098)cGt>cAt p.R366H IFIT5_ENST00000416601.1_Missense_Mutation_p.R318H NM_012420.2 NP_036552.1 Q13325 IFIT5_HUMAN interferon-induced protein with tetratricopeptide repeats 5 366 binding endometrium(1)|large_intestine(4)|lung(4) 9 AAAGCTCTTCGTCTGGAGAAC 0.453000 24 81 0 0 1 0 0 CCND2 894 broad.mit.edu 37 12 4398026 4398026 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:4398026A>G ENST00000261254.3 + 4 859 c.590A>G c.(589-591)tAc>tGc p.Y197C NM_001759.3 NP_001750.1 P30279 CCND2_HUMAN cyclin D2 197 cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus protein kinase binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 17 all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206) TTTGCCATGTACCCACCGTCG 0.542000 T IGL@ """NHL,CLL""" 50 201 0 0 1 0 0 ALPK1 80216 broad.mit.edu 37 4 113348757 113348757 + Missense_Mutation SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:113348757A>T ENST00000458497.1 + 9 1010 c.731A>T c.(730-732)gAc>gTc p.D244V ALPK1_ENST00000504176.2_Missense_Mutation_p.D166V|ALPK1_ENST00000177648.9_Missense_Mutation_p.D244V NM_001102406.1|NM_025144.3 NP_001095876.1|NP_079420.3 Q96QP1 ALPK1_HUMAN alpha-kinase 1 244 ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1) 53 Ovarian(17;0.0446)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00325) ATACTGGCAGACATCTTTGTT 0.398000 19 46 0 0 1 0 0 C17orf53 78995 broad.mit.edu 37 17 42232288 42232288 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:42232288A>G ENST00000319977.4 + 7 1866 c.1629A>G c.(1627-1629)tcA>tcG p.S543S C17orf53_ENST00000585683.1_Silent_p.S542S|C17orf53_ENST00000245382.6_Silent_p.S467S NM_001171251.1|NM_024032.3 NP_001164722.1|NP_076937.2 Q8N3J3 CQ053_HUMAN chromosome 17 open reading frame 53 543 NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 22 Breast(137;0.0364)|Prostate(33;0.0376) BRCA - Breast invasive adenocarcinoma(366;0.114) AGCCTGGCTCAGTGCTGCTGC 0.597000 8 30 0 0 1 0 0 MAGEE1 57692 broad.mit.edu 37 X 75649387 75649387 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chrX:75649387C>T ENST00000361470.2 + 1 1342 c.1064C>T c.(1063-1065)tCc>tTc p.S355F NM_020932.2 NP_065983.1 Q9HCI5 MAGE1_HUMAN melanoma antigen family E, 1 355 Pro-rich. dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 51 CCAAGCACTTCCGTACTGCCA 0.692000 13 18 0 0 1 0 0 KCNJ3 3760 broad.mit.edu 37 2 155711673 155711673 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:155711673G>A ENST00000295101.2 + 3 1831 c.1354G>A c.(1354-1356)Gta>Ata p.V452I NM_001260509.1|NM_002239.3 NP_001247438.1|NP_002230.1 P48549 IRK3_HUMAN potassium inwardly-rectifying channel, subfamily J, member 3 452 synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 54 Halothane(DB01159) AGAAAAACTGGTATCTAAAAC 0.453000 24 69 0 0 1 0 0 KALRN 8997 broad.mit.edu 37 3 124053293 124053293 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:124053293G>A ENST00000360013.3 + 9 1719 c.1592G>A c.(1591-1593)cGg>cAg p.R531Q KALRN_ENST00000460856.1_Missense_Mutation_p.R531Q|KALRN_ENST00000240874.3_Missense_Mutation_p.R531Q NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 531 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 CGCAAGGTGCGGCTCCACCAG 0.607000 20 68 0 0 1 0 0 VAPB 9217 broad.mit.edu 37 20 56993282 56993282 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:56993282T>C ENST00000475243.1 + 2 412 c.74T>C c.(73-75)gTt>gCt p.V25A VAPB_ENST00000265619.2_3'UTR|VAPB_ENST00000395802.3_Missense_Mutation_p.V25A NM_004738.4 NP_004729.1 O95292 VAPB_HUMAN VAMP (vesicle-associated membrane protein)-associated protein B and C 25 MSP. cell death|endoplasmic reticulum unfolded protein response|positive regulation of viral genome replication|sphingolipid metabolic process|virus-host interaction endoplasmic reticulum membrane|Golgi apparatus|integral to membrane beta-tubulin binding|enzyme binding|protein heterodimerization activity|protein homodimerization activity|structural molecule activity kidney(2)|lung(3)|prostate(1) 6 Lung NSC(12;0.000615)|all_lung(29;0.00186) BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;3.7e-08)|all cancers(14;3.88e-07) TTCACCGATGTTGTCACCACC 0.463000 8 161 0 0 1 0 0 ABCA13 154664 broad.mit.edu 37 7 48317939 48317939 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:48317939T>C ENST00000435803.1 + 18 7172 c.7148T>C c.(7147-7149)aTa>aCa p.I2383T NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 2383 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 GAAAATAATATAGACTTTTTC 0.348000 8 22 0 0 1 0 0 TRRAP 8295 broad.mit.edu 37 7 98574264 98574264 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:98574264A>G ENST00000359863.4 + 54 8306 c.8097A>G c.(8095-8097)acA>acG p.T2699T TRRAP_ENST00000355540.3_Silent_p.T2681T|TRRAP_ENST00000446306.3_Silent_p.T2681T NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 2699 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) TGGGGAAGACACACAACCTCT 0.557000 7 100 0 0 1 0 0 MYBPHL 343263 broad.mit.edu 37 1 109839460 109839460 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:109839460G>A ENST00000357155.1 - 5 724 c.675C>T c.(673-675)tgC>tgT p.C225C MYBPHL_ENST00000477962.1_Intron NM_001010985.2|NM_001265613.1 NP_001010985.2|NP_001252542.1 A2RUH7 MBPHL_HUMAN myosin binding protein H-like 225 Fibronectin type-III. central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2) 14 all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822) Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225) CACTGAGTCCGCACTGGTTTT 0.552000 22 75 0 0 1 0 0 LTBP2 4053 broad.mit.edu 37 14 74999222 74999222 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:74999222A>G ENST00000261978.4 - 10 2280 c.1894T>C c.(1894-1896)Tgc>Cgc p.C632R LTBP2_ENST00000556690.1_Missense_Mutation_p.C632R NM_000428.2 NP_000419.1 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding protein 2 632 EGF-like 3; calcium-binding (Potential). protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) GCGTCCTTGCACAGGCCCAGG 0.622000 12 38 0 0 1 0 0 NDUFAF6 137682 broad.mit.edu 37 8 96057819 96057819 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:96057819A>G ENST00000396113.1 + 11 1298 c.248A>G c.(247-249)gAa>gGa p.E83G NDUFAF6_ENST00000542894.1_Missense_Mutation_p.E123G|NDUFAF6_ENST00000396124.4_Missense_Mutation_p.E175G|NDUFAF6_ENST00000286687.4_Missense_Mutation_p.E23G|NDUFAF6_ENST00000396111.2_Missense_Mutation_p.E83G Q330K2 CH038_HUMAN NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 175 biosynthetic process mitochondrion transferase activity AAGGAACTGGAAAATTATGCT 0.289000 18 106 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1261492 1261492 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:1261492T>C ENST00000447027.1 + 30 3924 c.3866T>C c.(3865-3867)aTc>aCc p.I1289T MUC5B_ENST00000529681.1_Missense_Mutation_p.I1286T Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 1286 cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) GCCTGCTTGATCGCCATCTGC 0.612000 7 61 0 0 1 0 0 TAZ 6901 broad.mit.edu 37 X 153648397 153648397 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chrX:153648397C>T ENST00000299328.5 + 8 899 c.610C>T c.(610-612)Cat>Tat p.H204Y TAZ_ENST00000350743.4_Missense_Mutation_p.H174Y|TAZ_ENST00000351413.4_Missense_Mutation_p.H190Y|TAZ_ENST00000369790.4_Missense_Mutation_p.H160Y|TAZ_ENST00000498029.1_3'UTR|TAZ_ENST00000369776.4_Missense_Mutation_p.H135Y NM_000116.3 NP_000107.1 Q16635 TAZ_HUMAN tafazzin 204 cardiac muscle contraction|cardiac muscle tissue development|cardiolipin biosynthetic process|cristae formation|hemopoiesis|mitochondrial ATP synthesis coupled electron transport|mitochondrial respiratory chain complex I assembly|skeletal muscle tissue development integral to membrane|mitochondrion 1-acylglycerophosphocholine O-acyltransferase activity lung(1) 1 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TGCTGAGTGTCATCTCAACCC 0.627000 6 146 0 0 1 0 0 TRPM4 54795 broad.mit.edu 37 19 49671539 49671539 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:49671539T>C ENST00000252826.5 + 5 597 c.471T>C c.(469-471)ggT>ggC p.G157G TRPM4_ENST00000355712.5_Intron|TRPM4_ENST00000427978.2_Silent_p.G157G NM_017636.3 NP_060106.2 Q8TD43 TRPM4_HUMAN transient receptor potential cation channel, subfamily M, member 4 157 dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane ATP binding|calcium activated cation channel activity|calmodulin binding breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 49 all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15) all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751) TCACTGGGGGTCTGCACACGG 0.607000 48 119 0 0 1 0 0 ADAM18 8749 broad.mit.edu 37 8 39564395 39564395 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:39564395T>C ENST00000265707.5 + 18 2034 c.1989T>C c.(1987-1989)agT>agC p.S663S ADAM18_ENST00000523755.1_3'UTR|ADAM18_ENST00000379866.1_Silent_p.S639S|ADAM18_ENST00000541111.1_Silent_p.S77S NM_014237.2 NP_055052.1 Q9Y3Q7 ADA18_HUMAN ADAM metallopeptidase domain 18 663 cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3) 71 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) CAGGGGGTAGTATTGATGATG 0.313000 9 51 0 0 1 0 0 PNCK 139728 broad.mit.edu 37 X 152939660 152939660 + Translation_Start_Site SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chrX:152939660C>T ENST00000393831.2 - 0 156 PNCK_ENST00000370142.1_Intron|PNCK_ENST00000447676.2_De_novo_Start_InFrame NM_001039582.3 NP_001034671.3 Q6P2M8 KCC1B_HUMAN pregnancy up-regulated nonubiquitous CaM kinase cytoplasm|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity breast(2)|lung(3)|skin(1) 6 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CAACCCTGCACCACAGCTCTG 0.637000 12 17 0 0 1 0 0 ZNF28 7576 broad.mit.edu 37 19 53302978 53302978 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:53302978A>G ENST00000438150.2 - 2 2854 c.1961T>C c.(1960-1962)gTa>gCa p.V654A ZNF28_ENST00000457749.2_Missense_Mutation_p.V707A|ZNF28_ENST00000360272.4_Missense_Mutation_p.V654A|ZNF28_ENST00000414252.2_Missense_Mutation_p.V654A P17035 ZNF28_HUMAN zinc finger protein 28 707 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145) ATGATGGTATACAAGGTTTGA 0.418000 47 131 0 0 1 0 0 PDHB 5162 broad.mit.edu 37 3 58419401 58419401 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:58419401A>G ENST00000302746.6 - 2 95 c.53T>C c.(52-54)cTg>cCg p.L18P PDHB_ENST00000485460.1_Missense_Mutation_p.L18P|PDHB_ENST00000474765.1_Intron NM_000925.3|NM_001173468.1 NP_000916.2|NP_001166939.1 P11177 ODPB_HUMAN pyruvate dehydrogenase (lipoamide) beta 18 glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle mitochondrial matrix pyruvate dehydrogenase (acetyl-transferring) activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1) 9 BRCA - Breast invasive adenocarcinoma(55;0.000179)|Kidney(10;0.00231)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.187) NADH(DB00157)|Pyruvic acid(DB00119) CCTCTTCAGCAGCCCGGAGAC 0.711000 3 19 0 0 1 0 0 KCNQ5 56479 broad.mit.edu 37 6 73904329 73904329 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:73904329A>G ENST00000342056.2 + 15 2446 c.2048A>G c.(2047-2049)aAa>aGa p.K683R KCNQ5_ENST00000414165.2_Missense_Mutation_p.K554R|KCNQ5_ENST00000355194.4_Missense_Mutation_p.K664R|KCNQ5_ENST00000402622.2_Missense_Mutation_p.K674R|KCNQ5_ENST00000370398.1_Missense_Mutation_p.K664R|KCNQ5_ENST00000355635.3_Missense_Mutation_p.K665R|KCNQ5_ENST00000403813.2_Missense_Mutation_p.K655R NM_001160132.1|NM_001160133.1 NP_001153604.1|NP_001153605.1 Q9NR82 KCNQ5_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 5 664 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) GTGGATAGCAAAGATCTTTCG 0.493000 7 135 0 0 1 0 0 DCLRE1A 9937 broad.mit.edu 37 10 115595055 115595055 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:115595055T>C ENST00000361384.2 - 9 3896 c.2979A>G c.(2977-2979)gaA>gaG p.E993E DCLRE1A_ENST00000369305.1_Silent_p.E993E NM_014881.3 NP_055696.3 Q6PJP8 DCR1A_HUMAN DNA cross-link repair 1A 993 cell division|mitosis nucleus hydrolase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1) 31 Epithelial(162;0.0157)|all cancers(201;0.0171) AGCTGCTGTGTTCACTGTAAG 0.353000 Other identified genes with known or suspected DNA repair function 17 49 0 0 1 0 0 C15orf57 90416 broad.mit.edu 37 15 40855200 40855200 + Missense_Mutation SNP C C G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:40855200C>G ENST00000358005.3 - 2 288 c.15G>C c.(13-15)gaG>gaC p.E5D C15orf57_ENST00000560305.1_Missense_Mutation_p.E5D|C15orf57_ENST00000560109.1_5'UTR|C15orf57_ENST00000561011.1_Missense_Mutation_p.E5D|C15orf57_ENST00000559911.1_Missense_Mutation_p.E5D|C15orf57_ENST00000558871.1_Missense_Mutation_p.E5D|C15orf57_ENST00000558750.1_Missense_Mutation_p.E14D|C15orf57_ENST00000558113.1_Missense_Mutation_p.E5D|C15orf57_ENST00000416810.2_Missense_Mutation_p.E5D NM_001080791.1|NM_052849.2 NP_001074260.1|NP_443081.1 Q9BV29 CO057_HUMAN chromosome 15 open reading frame 57 5 endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 9 AGTCAGCGCTCTCAAACATTT 0.443000 51 175 0 0 1 0 0 TYW1B 441250 broad.mit.edu 37 7 72267523 72267523 + RNA SNP G G A rs138229913 by1000genomes TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:72267523G>A ENST00000438125.1 - 0 350 Q6NUM6 TYW1B_HUMAN tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity TGGAGCTCTCGAAGGGTTCTT 0.448000 4 82 0 0 1 0 0 GPR113 165082 broad.mit.edu 37 2 26534142 26534142 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:26534142G>A ENST00000333478.6 - 8 2439 c.1857C>T c.(1855-1857)tgC>tgT p.C619C GPR113_ENST00000541401.1_Silent_p.C421C|GPR113_ENST00000421160.2_Silent_p.C749C|GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000311519.1_Silent_p.C818C NM_153835.3 NP_722577.2 Q8IZF5 GP113_HUMAN G protein-coupled receptor 113 818 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 24 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CGGCCAGCAAGCAGAACACCA 0.612000 8 32 0 0 1 0 0 KIAA0319L 79932 broad.mit.edu 37 1 35936545 35936545 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:35936545G>A ENST00000325722.3 - 6 1266 c.1032C>T c.(1030-1032)taC>taT p.Y344Y NM_024874.4 NP_079150.3 Q8IZA0 K319L_HUMAN KIAA0319-like 344 PKD 1. cytoplasmic vesicle part|integral to membrane protein binding breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1) 34 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) GCTGCCAGTCGTAGGTGTAGG 0.433000 30 94 0 0 1 0 0 ZNF827 152485 broad.mit.edu 37 4 146807025 146807025 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:146807025A>G ENST00000508784.1 - 4 1779 c.1552T>C c.(1552-1554)Tcg>Ccg p.S518P ZNF827_ENST00000379448.4_Missense_Mutation_p.S518P|ZNF827_ENST00000513320.1_Missense_Mutation_p.S168P Q17R98 ZN827_HUMAN zinc finger protein 827 518 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 all_hematologic(180;0.151) AGCAAAGGCGAGACGCCAGCC 0.587000 23 92 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238280912 238280912 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:238280912A>G ENST00000295550.4 - 9 4200 c.3748T>C c.(3748-3750)Tac>Cac p.Y1250H COL6A3_ENST00000472056.1_Missense_Mutation_p.Y643H|COL6A3_ENST00000353578.4_Missense_Mutation_p.Y1044H|COL6A3_ENST00000346358.4_Missense_Mutation_p.Y1050H|COL6A3_ENST00000392003.2_Missense_Mutation_p.Y843H|COL6A3_ENST00000392004.3_Missense_Mutation_p.Y1044H|COL6A3_ENST00000409809.1_Missense_Mutation_p.Y1044H|COL6A3_ENST00000347401.3_Missense_Mutation_p.Y1049H NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 1250 Nonhelical region.|VWFA 7. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) GTGCGAACGTACTGGAACTCA 0.567000 5 88 0 0 1 0 0 ZBTB26 57684 broad.mit.edu 37 9 125681684 125681684 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:125681684T>C ENST00000373656.3 - 2 603 c.530A>G c.(529-531)gAc>gGc p.D177G ZBTB26_ENST00000373654.1_Missense_Mutation_p.D177G NM_020924.2 NP_065975.1 Q9HCK0 ZBT26_HUMAN zinc finger and BTB domain containing 26 177 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1) 11 AATATCACTGTCCTCCATATC 0.433000 27 89 0 0 1 0 0 MFAP5 8076 broad.mit.edu 37 12 8807057 8807057 + Missense_Mutation SNP T T A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:8807057T>A ENST00000359478.2 - 6 380 c.193A>T c.(193-195)Att>Ttt p.I65F MFAP5_ENST00000396549.2_Missense_Mutation_p.I65F|MFAP5_ENST00000538107.1_5'UTR|MFAP5_ENST00000540087.1_Missense_Mutation_p.I65F|MFAP5_ENST00000535336.1_Missense_Mutation_p.I65F|MFAP5_ENST00000433590.2_Intron|MFAP5_ENST00000543369.1_Missense_Mutation_p.I53F NM_003480.2 NP_003471.1 Q13361 MFAP5_HUMAN microfibrillar associated protein 5 65 microfibril extracellular matrix structural constituent breast(1)|endometrium(2)|large_intestine(4)|lung(5)|skin(1) 13 Lung SC(5;0.184) GAAGGTGCAATATCAGCCAAA 0.493000 3 18 0 0 1 0 0 CRIM1 51232 broad.mit.edu 37 2 36774272 36774272 + Silent SNP A A G rs148618747 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:36774272A>G ENST00000280527.2 + 16 3259 c.2892A>G c.(2890-2892)aaA>aaG p.K964K AC007401.2_ENST00000406220.1_Intron NM_016441.2 NP_057525.1 Q9NZV1 CRIM1_HUMAN cysteine rich transmembrane BMP regulator 1 (chordin-like) 964 nervous system development|regulation of cell growth extracellular region|integral to membrane|plasma membrane insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 45 all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154) ATCAGAAGAAACAGTGGATAC 0.383000 21 69 0 0 1 0 0 DHX16 8449 broad.mit.edu 37 6 30639032 30639032 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:30639032A>G ENST00000376442.3 - 2 422 c.227T>C c.(226-228)gTa>gCa p.V76A NM_001164239.1|NM_003587.4 NP_001157711.1|NP_003578.2 O60231 DHX16_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 16 76 mRNA processing|RNA splicing nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity kidney(2)|ovary(2) 4 TGGCTTTTCTACCACTGCCTT 0.537000 108 306 0 0 1 0 0 CELSR1 9620 broad.mit.edu 37 22 46795724 46795724 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr22:46795724G>A ENST00000262738.3 - 10 5301 c.5302C>T c.(5302-5304)Cgg>Tgg p.R1768W NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 1768 Laminin G-like 2. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) TCGGTCACCCGCAACCCGGAC 0.587000 18 75 0 0 1 0 0 LRSAM1 90678 broad.mit.edu 37 9 130265101 130265101 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:130265101T>C ENST00000323301.4 + 25 2699 c.2095T>C c.(2095-2097)Tgc>Cgc p.C699R LRSAM1_ENST00000300417.6_Missense_Mutation_p.C699R|LRSAM1_ENST00000373322.1_Missense_Mutation_p.C699R|LRSAM1_ENST00000483302.1_3'UTR|LRSAM1_ENST00000373324.4_Missense_Mutation_p.C672R NM_138361.5 NP_612370.3 Q6UWE0 LRSM1_HUMAN leucine rich repeat and sterile alpha motif containing 1 699 negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis cytoplasm|extracellular region|membrane part hormone activity|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2) 16 CTGCCAGCAGTGCTGCCAGCC 0.682000 3 21 0 0 1 0 0 C1orf198 84886 broad.mit.edu 37 1 230979560 230979560 + Missense_Mutation SNP G G C rs150666760 byFrequency TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:230979560G>C ENST00000366663.5 - 3 607 c.467C>G c.(466-468)tCc>tGc p.S156C C1orf198_ENST00000523410.1_Missense_Mutation_p.S26C|C1orf198_ENST00000470540.1_Missense_Mutation_p.S118C|C1orf198_ENST00000427697.2_5'UTR NM_032800.2 NP_116189.1 Q9H425 CA198_HUMAN chromosome 1 open reading frame 198 156 breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 17 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.178) GGAAGCTTTGGACAGTGGTCT 0.642000 10 287 0 0 1 0 0 TRIP4 9325 broad.mit.edu 37 15 64710846 64710846 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:64710846A>G ENST00000261884.3 + 9 1337 c.1277A>G c.(1276-1278)gAa>gGa p.E426G NM_016213.4 NP_057297.2 Q15650 TRIP4_HUMAN thyroid hormone receptor interactor 4 426 positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus ligand-dependent nuclear receptor binding|transcription coactivator activity|zinc ion binding breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 21 CAGGATCAAGAATTTCAGGAA 0.468000 19 49 0 0 1 0 0 ZNF252P 286101 broad.mit.edu 37 8 146220894 146220894 + RNA SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:146220894G>A ENST00000426361.2 - 0 245 NR_023392.1 endometrium(1) 1 TCTTCTACCTGTGATGCTTCT 0.473000 5 54 0 0 1 0 0 TBC1D1 23216 broad.mit.edu 37 4 38016236 38016236 + Missense_Mutation SNP T T A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:38016236T>A ENST00000261439.4 + 3 879 c.524T>A c.(523-525)gTg>gAg p.V175E TBC1D1_ENST00000508802.1_Missense_Mutation_p.V175E NM_001253914.1|NM_001253915.1|NM_015173.3 NP_001240843.1|NP_001240844.1|NP_055988.2 Q86TI0 TBCD1_HUMAN TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 175 nucleus Rab GTPase activator activity NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 36 AAGTTCGAGGTGCTCTTCTGC 0.637000 52 177 0 0 1 0 0 KRTAP12-1 353332 broad.mit.edu 37 21 46101779 46101779 + Missense_Mutation SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr21:46101779G>T ENST00000391617.1 - 1 299 c.260C>A c.(259-261)cCc>cAc p.P87H TSPEAR_ENST00000323084.4_Intron NM_181686.1 NP_859014.1 P59990 KR121_HUMAN keratin associated protein 12-1 87 14 X 5 AA approximate repeats. keratin filament kidney(1)|large_intestine(1)|lung(1)|skin(2) 5 GCAGGAGATGGGTCTGCAGAG 0.642000 4 115 0.150653 0.150988 1 1 0 SEC16A 9919 broad.mit.edu 37 9 139371345 139371345 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:139371345C>T ENST00000313050.7 - 1 796 c.723G>A c.(721-723)gtG>gtA p.V241V SEC16A_ENST00000431893.2_Silent_p.V63V|SEC16A_ENST00000371706.3_Silent_p.V63V|SEC16A_ENST00000290037.6_Silent_p.V63V NM_014866.1 NP_055681.1 O15027 SC16A_HUMAN SEC16 homolog A (S. cerevisiae) 63 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Myeloproliferative disorder(178;0.0511) Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06) TGGCACAGGGCACCCCGCTGG 0.657000 12 28 0 0 1 0 0 LCOR 84458 broad.mit.edu 37 10 98715513 98715513 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:98715513A>G ENST00000540664.1 + 8 1679 c.1136A>G c.(1135-1137)cAc>cGc p.H379R LCOR_ENST00000498444.1_Intron|LCOR_ENST00000371103.3_Missense_Mutation_p.H379R|LCOR_ENST00000356016.3_Missense_Mutation_p.H379R|LCOR_ENST00000371097.4_Missense_Mutation_p.H379R NM_001170765.1|NM_001170766.1 NP_001164236.1|NP_001164237.1 ligand dependent nuclear receptor corepressor endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|urinary_tract(1) 13 Colorectal(252;0.162) Epithelial(162;4.43e-09)|all cancers(201;2.96e-07) GGGATTCCCCACAGTACACTG 0.428000 4 89 0 0 1 0 0 PPP1R26 9858 broad.mit.edu 37 9 138378335 138378335 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:138378335G>A ENST00000356818.2 + 4 2528 c.1979G>A c.(1978-1980)cGc>cAc p.R660H PPP1R26_ENST00000605660.1_Missense_Mutation_p.R660H|PPP1R26_ENST00000604351.1_Missense_Mutation_p.R660H|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000401470.3_Missense_Mutation_p.R660H|PPP1R26_ENST00000605286.1_Missense_Mutation_p.R660H NM_014811.3 NP_055626.3 Q5T8A7 K0649_HUMAN protein phosphatase 1, regulatory subunit 26 660 nucleolus protein binding GGCGACACTCGCATGTCACAG 0.642000 10 72 0 0 1 0 0 CNTRL 11064 broad.mit.edu 37 9 123912683 123912683 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:123912683G>A ENST00000373855.1 + 25 4145 c.3885G>A c.(3883-3885)ggG>ggA p.G1295G CNTRL_ENST00000238341.5_Silent_p.G1295G|CNTRL_ENST00000373847.1_Silent_p.G743G|CNTRL_ENST00000373850.1_Silent_p.G743G Q7Z7A1 CNTRL_HUMAN centriolin 1295 Pro-rich. cell division|G2/M transition of mitotic cell cycle centrosome|cytosol protein binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3) 20 TGGTGTATGGGCCTCCACCCC 0.547000 28 78 0 0 1 0 0 CILP2 148113 broad.mit.edu 37 19 19651094 19651094 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:19651094T>C ENST00000586018.1 + 3 365 c.263T>C c.(262-264)tTc>tCc p.F88S CILP2_ENST00000291495.4_Missense_Mutation_p.F82S Q8IUL8 CILP2_HUMAN cartilage intermediate layer protein 2 82 proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 32 GCCATCCGCTTCTACTACGGG 0.731000 6 19 0 0 1 0 0 RHOA 387 broad.mit.edu 37 3 49400019 49400019 + Missense_Mutation SNP G G C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:49400019G>C ENST00000418115.1 - 4 702 c.318C>G c.(316-318)ttC>ttG p.F106L RHOA_ENST00000422781.1_Missense_Mutation_p.F106L|RHOA_ENST00000454011.2_Missense_Mutation_p.S66C NM_001664.2 NP_001655.1 P61586 RHOA_HUMAN ras homolog family member A 106 axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis cytoskeleton|cytosol|plasma membrane GTP binding|GTPase activity|myosin binding p.F106L(1) cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 12 BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) Atorvastatin(DB01076)|Simvastatin(DB00641) CGTTGGGACAGAAATGCTTGA 0.443000 22 115 0 0 1 0 0 LRRFIP2 9209 broad.mit.edu 37 3 37107713 37107713 + Splice_Site SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:37107713A>G ENST00000421307.1 - 23 1989 c.e23+1 LRRFIP2_ENST00000396428.2_Intron|LRRFIP2_ENST00000336686.4_Splice_Site|LRRFIP2_ENST00000354379.4_Intron|LRRFIP2_ENST00000440230.1_Intron|LRRFIP2_ENST00000421276.2_Intron NM_006309.2 NP_006300.1 Q9Y608 LRRF2_HUMAN leucine rich repeat (in FLII) interacting protein 2 Wnt receptor signaling pathway LRR domain binding p.0?(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 22 ATGCTAACATACCTCTCCCGT 0.458000 39 109 0 0 1 0 0 TSHZ1 10194 broad.mit.edu 37 18 72997953 72997953 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr18:72997953C>T ENST00000322038.5 + 2 1040 c.456C>T c.(454-456)taC>taT p.Y152Y TSHZ1_ENST00000580243.1_Silent_p.Y197Y NM_005786.5 NP_005777.3 Q6ZSZ6 TSH1_HUMAN teashirt zinc finger homeobox 1 197 Ser-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2) 42 Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211) Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246) gctccggGTACGACTGGCACC 0.662000 6 17 0 0 1 0 0 MYH3 4621 broad.mit.edu 37 17 10549118 10549118 + Silent SNP C C G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:10549118C>G ENST00000583535.1 - 12 1134 c.1047G>C c.(1045-1047)ggG>ggC p.G349G MYH3_ENST00000226209.7_Silent_p.G349G NM_002470.3 NP_002461.2 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, embryonic 349 Myosin head-like. muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 83 GCTTGTAGAGCCCAGATTTCT 0.572000 19 70 0 0 1 0 0 ITPRIP 85450 broad.mit.edu 37 10 106074457 106074457 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:106074457C>T ENST00000278071.2 - 3 1805 c.1353G>A c.(1351-1353)gcG>gcA p.A451A ITPRIP_ENST00000358187.2_Silent_p.A451A|ITPRIP_ENST00000337478.1_Silent_p.A451A NM_033397.2 NP_203755.1 Q8IWB1 IPRI_HUMAN inositol 1,4,5-trisphosphate receptor interacting protein 451 plasma membrane breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1) 20 CCAGCTGCCCCGCCTTCCAGT 0.642000 5 103 0 0 1 0 0 ZNF608 57507 broad.mit.edu 37 5 123984603 123984603 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:123984603C>T ENST00000306315.5 - 4 1909 c.1474G>A c.(1474-1476)Gcc>Acc p.A492T ZNF608_ENST00000504926.1_Missense_Mutation_p.A65T NM_020747.2 NP_065798.2 Q9ULD9 ZN608_HUMAN zinc finger protein 608 492 intracellular zinc ion binding breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1) 46 all_cancers(142;0.186)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783) GAAGGGCTGGCTTTGATATCC 0.557000 28 95 0 0 1 0 0 GPR161 23432 broad.mit.edu 37 1 168066456 168066456 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:168066456A>G ENST00000367838.1 - 5 702 c.389T>C c.(388-390)cTg>cCg p.L130P GPR161_ENST00000271357.5_Missense_Mutation_p.L130P|GPR161_ENST00000361697.2_Missense_Mutation_p.L130P|GPR161_ENST00000537209.1_Missense_Mutation_p.L150P|GPR161_ENST00000367836.1_5'UTR|GPR161_ENST00000546300.1_Missense_Mutation_p.L16P|GPR161_ENST00000367835.1_Missense_Mutation_p.L130P|GPR161_ENST00000539777.1_Missense_Mutation_p.L52P NM_001267611.1|NM_153832.2 NP_001254540.1|NP_722561.1 Q8N6U8 GP161_HUMAN G protein-coupled receptor 161 130 multicellular organismal development integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1) 26 all_hematologic(923;0.215) CATGGGGTACAGGACAGCATA 0.572000 29 83 0 0 1 0 0 COL27A1 85301 broad.mit.edu 37 9 116931125 116931125 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:116931125G>A ENST00000356083.3 + 3 1681 c.1290G>A c.(1288-1290)ccG>ccA p.P430P NM_032888.2 NP_116277.2 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 430 Pro-rich. cell adhesion extracellular matrix structural constituent p.P430P(1) central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3) 80 AGAGGAACCCGGGAATGCCCA 0.617000 124 290 0 0 1 0 0 RPL31 6160 broad.mit.edu 37 2 101620626 101620626 + Missense_Mutation SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:101620626C>A ENST00000409711.1 + 2 125 c.114C>A c.(112-114)ttC>ttA p.F38L RPL31_ENST00000409650.1_Missense_Mutation_p.F38L|RPL31_ENST00000409038.1_Missense_Mutation_p.F38L|RPL31_ENST00000409320.3_Missense_Mutation_p.F38L|RPL31_ENST00000409000.1_Missense_Mutation_p.F38L|RPL31_ENST00000409028.4_Missense_Mutation_p.F38L|RPL31_ENST00000409733.1_Missense_Mutation_p.F38L|RPL31_ENST00000264258.3_Missense_Mutation_p.F38L P62899 RL31_HUMAN ribosomal protein L31 38 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit protein binding|RNA binding|structural constituent of ribosome kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(3) 8 GTAGGGGCTTCAAGAAGCGTG 0.448000 11 35 6.42651e-13 6.69979e-13 1 1 0 TSHZ1 10194 broad.mit.edu 37 18 72999677 72999677 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr18:72999677C>T ENST00000322038.5 + 2 2764 c.2180C>T c.(2179-2181)gCg>gTg p.A727V TSHZ1_ENST00000580243.1_Missense_Mutation_p.A772V NM_005786.5 NP_005777.3 Q6ZSZ6 TSH1_HUMAN teashirt zinc finger homeobox 1 772 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2) 42 Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211) Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246) GACCCGCTGGCGATGCTGTAC 0.587000 5 41 0 0 1 0 0 RAG1 5896 broad.mit.edu 37 11 36597916 36597916 + Missense_Mutation SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:36597916C>A ENST00000299440.5 + 2 3174 c.3062C>A c.(3061-3063)cCt>cAt p.P1021H NM_000448.2 NP_000439.1 P15918 RAG1_HUMAN recombination activating gene 1 1021 histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 65 all_lung(20;0.226) all_hematologic(20;0.107) ACCATGAACCCTCAGGCAAGC 0.428000 Familial Hemophagocytic Lymphohistiocytosis 4 94 0.150653 0.150988 1 1 0 MPST 4357 broad.mit.edu 37 22 37420635 37420635 + Missense_Mutation SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr22:37420635C>A ENST00000397225.2 + 2 1294 c.379C>A c.(379-381)Ctg>Atg p.L127M MPST_ENST00000429360.2_Missense_Mutation_p.L127M|MPST_ENST00000401419.3_Missense_Mutation_p.L127M|MPST_ENST00000404802.3_Missense_Mutation_p.L127M|MPST_ENST00000341116.3_Missense_Mutation_p.L127M|MPST_ENST00000397129.1_Missense_Mutation_p.L147M|MPST_ENST00000404393.1_Missense_Mutation_p.L127M P25325 THTM_HUMAN mercaptopyruvate sulfurtransferase 127 Rhodanese 1. cyanate catabolic process|response to toxin 3-mercaptopyruvate sulfurtransferase activity|thiosulfate sulfurtransferase activity central_nervous_system(2)|kidney(1)|lung(2)|prostate(1)|skin(1) 7 CGCCGTGTCACTGCTTGATGG 0.701000 6 20 0.00198382 0.00200201 1 1 0 SLIT3 6586 broad.mit.edu 37 5 168244337 168244337 + Missense_Mutation SNP G G A rs148711550 byFrequency TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:168244337G>A ENST00000519560.1 - 8 1180 c.761C>T c.(760-762)gCg>gTg p.A254V SLIT3_ENST00000404867.3_Missense_Mutation_p.A254V|SLIT3_ENST00000332966.8_Missense_Mutation_p.A254V NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 254 LRRCT 1. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CTGCACATCCGCCACGTTGAA 0.592000 18 57 0 0 1 0 0 OR2T2 401992 broad.mit.edu 37 1 248616454 248616454 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:248616454T>C ENST00000342927.3 + 1 378 c.356T>C c.(355-357)aTg>aCg p.M119T NM_001004136.1 NP_001004136.1 Q6IF00 OR2T2_HUMAN olfactory receptor, family 2, subfamily T, member 2 119 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 37 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CTGGGTCTCATGGCCTATGAC 0.547000 8 211 0 0 1 0 0 TYK2 7297 broad.mit.edu 37 19 10475301 10475301 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:10475301G>A ENST00000525621.1 - 9 1837 c.1356C>T c.(1354-1356)caC>caT p.H452H TYK2_ENST00000524462.1_Silent_p.H267H|TYK2_ENST00000529370.1_Silent_p.H452H|TYK2_ENST00000264818.6_Silent_p.H452H NM_003331.4 NP_003322.3 P29597 TYK2_HUMAN tyrosine kinase 2 452 SH2; atypical. intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytoskeleton|cytosol|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06) GCAGGGGTCCGTGGATCCCAT 0.667000 40 117 0 0 1 0 0 THEMIS 387357 broad.mit.edu 37 6 128150963 128150963 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:128150963T>C ENST00000368250.1 - 4 628 c.130A>G c.(130-132)Ata>Gta p.I44V THEMIS_ENST00000368248.2_Missense_Mutation_p.I123V|THEMIS_ENST00000543064.1_Missense_Mutation_p.I123V|THEMIS_ENST00000537166.1_Missense_Mutation_p.I88V Q8N1K5 THMS1_HUMAN thymocyte selection associated 123 CABIT 1. negative T cell selection|positive T cell selection|T cell receptor signaling pathway cytoplasm|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3) 60 TCTAGTTTTATATCCTTCTGA 0.408000 15 57 0 0 1 0 0 CRYAA 1409 broad.mit.edu 37 21 44589244 44589244 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr21:44589244G>A ENST00000291554.2 + 1 127 c.35G>A c.(34-36)cGc>cAc p.R12H CRYAA_ENST00000482775.1_3'UTR NM_000394.2 NP_000385.1 P02489 CRYAA_HUMAN crystallin, alpha A 12 anti-apoptosis|negative regulation of intracellular transport|protein homooligomerization|response to heat|visual perception cytoplasm|nucleus structural constituent of eye lens|unfolded protein binding NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1) 11 TGGTTCAAGCGCACCCTGGGG 0.632000 39 101 0 0 1 0 0 KCND2 3751 broad.mit.edu 37 7 119915308 119915308 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:119915308C>T ENST00000331113.4 + 1 1587 c.622C>T c.(622-624)Ccg>Tcg p.P208S NM_012281.2 NP_036413.1 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 2 208 regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 75 all_neural(327;0.117) GGAAACAGTGCCGTGCGGATC 0.552000 31 59 0 0 1 0 0 ZNF721 170960 broad.mit.edu 37 4 437625 437625 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:437625A>G ENST00000338977.5 - 2 643 c.595T>C c.(595-597)Tat>Cat p.Y199H ZNF721_ENST00000511833.2_Missense_Mutation_p.Y211H|ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000506646.1_Intron|ABCA11P_ENST00000451020.2_RNA zinc finger protein 721 endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1) 33 ATTTTCTTATATTCATTCAGG 0.373000 17 47 0 0 1 0 0 CCDC77 84318 broad.mit.edu 37 12 547673 547673 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:547673T>C ENST00000239830.4 + 10 1173 c.994T>C c.(994-996)Ttg>Ctg p.L332L CCDC77_ENST00000540180.1_Silent_p.L300L|CCDC77_ENST00000422000.1_Silent_p.L300L|CCDC77_ENST00000412006.2_Silent_p.L300L NM_032358.3 NP_115734.1 Q9BR77 CCD77_HUMAN coiled-coil domain containing 77 332 centrosome cervix(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 19 all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156) OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033) TGGAAAAGTGTTGCCCGTTAT 0.348000 21 105 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100675253 100675253 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:100675253A>G ENST00000306151.4 + 3 620 c.556A>G c.(556-558)Aca>Gca p.T186A NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 186 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) TGATATGAGCACACCTCTGAC 0.428000 83 264 0 0 1 0 0 HCN1 348980 broad.mit.edu 37 5 45462020 45462020 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:45462020A>G ENST00000303230.4 - 3 996 c.939T>C c.(937-939)ggT>ggC p.G313G NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 313 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 ACTGAAGACAACCATCCCAGT 0.423000 12 26 0 0 1 0 0 LPA 4018 broad.mit.edu 37 6 160968927 160968927 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:160968927G>A ENST00000447678.1 - 33 5318 c.5198C>T c.(5197-5199)gCa>gTa p.A1733V LPA_ENST00000316300.5_Missense_Mutation_p.A1733V NM_005577.2 NP_005568.2 P08519 APOA_HUMAN lipoprotein, Lp(a) 4241 Kringle 16. 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) AACAGTGGTTGCCTTCTTGCC 0.483000 21 125 0 0 1 0 0 CIITA 4261 broad.mit.edu 37 16 11001615 11001615 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:11001615C>T ENST00000324288.8 + 11 2399 c.2266C>T c.(2266-2268)Cgc>Tgc p.R756C CIITA_ENST00000537380.1_Intron|CIITA_ENST00000381835.5_Intron NM_000246.3 NP_000237.2 P33076 C2TA_HUMAN class II, major histocompatibility complex, transactivator 756 interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent nucleus activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2) 12 GGGCGTGCCACGCTTTCTGGC 0.632000 T """FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6""" """PMBL, Hodgkin Lymphona, """ 37 114 0 0 1 0 0 SLC19A1 6573 broad.mit.edu 37 21 46951392 46951392 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr21:46951392T>C ENST00000311124.4 - 3 1012 c.860A>G c.(859-861)tAc>tGc p.Y287C SLC19A1_ENST00000567670.1_Missense_Mutation_p.Y287C|SLC19A1_ENST00000485649.2_Missense_Mutation_p.Y247C|SLC19A1_ENST00000380010.4_Missense_Mutation_p.Y287C NM_194255.2 NP_919231.1 P41440 S19A1_HUMAN solute carrier family 19 (folate transporter), member 1 287 folic acid metabolic process integral to plasma membrane|membrane fraction folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 10 Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172) GATGTGCACGTAGTAGACCAC 0.667000 18 161 0 0 1 0 0 KCNK12 56660 broad.mit.edu 37 2 47748557 47748557 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:47748557T>C ENST00000327876.3 - 2 1389 c.782A>G c.(781-783)gAc>gGc p.D261G MSH2_ENST00000461394.1_Intron NM_022055.1 NP_071338.1 Q9HB15 KCNKC_HUMAN potassium channel, subfamily K, member 12 261 integral to membrane potassium channel activity|voltage-gated ion channel activity p.0?(2)|p.?(2) NS(1)|endometrium(1)|lung(3)|ovary(1) 6 all_hematologic(82;0.0495)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) GCTCACCAGGTCCCCGAAGCC 0.632000 3 24 0 0 1 0 0 CPNE2 221184 broad.mit.edu 37 16 57153532 57153532 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:57153532G>A ENST00000535318.2 + 8 1012 c.651G>A c.(649-651)ctG>ctA p.L217L CPNE2_ENST00000537605.1_Silent_p.L115L|CPNE2_ENST00000290776.8_Silent_p.L217L|CPNE2_ENST00000565874.1_Silent_p.L217L Q96FN4 CPNE2_HUMAN copine II 217 C2 2. central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5) 21 all_neural(199;0.224) TGGTGTCCCTGTGTGATGGGG 0.627000 3 26 0 0 1 0 0 KITLG 4254 broad.mit.edu 37 12 88910239 88910239 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:88910239T>C ENST00000347404.5 - 5 964 c.392A>G c.(391-393)gAa>gGa p.E131G KITLG_ENST00000228280.5_Missense_Mutation_p.E131G|KITLG_ENST00000357116.4_Intron|KITLG_ENST00000378535.4_5'UTR NM_003994.5 NP_003985.2 P21583 SCF_HUMAN KIT ligand 131 cell adhesion|cell proliferation|hemopoiesis|male gonad development|positive regulation of DNA replication|signal transduction cytoplasm|cytoskeleton|integral to membrane|plasma membrane growth factor activity|identical protein binding|stem cell factor receptor binding kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1) 9 GAGCCTGGGTTCTGGGCTCTT 0.343000 Testicular Cancer, Familial Clustering of 19 55 0 0 1 0 0 RBMXL1 494115 broad.mit.edu 37 1 89448713 89448713 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:89448713T>C ENST00000399794.2 - 3 1512 c.797A>G c.(796-798)tAt>tGt p.Y266C CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000370491.3_Intron|CCBL2_ENST00000446900.2_Intron|RBMXL1_ENST00000321792.5_Missense_Mutation_p.Y266C NM_001162536.2 NP_001156008.1 Q96E39 RBMXL_HUMAN RNA binding motif protein, X-linked-like 1 266 nucleotide binding|RNA binding ATCACGACCATATCCATCTCT 0.448000 22 241 0 0 1 0 0 OVGP1 5016 broad.mit.edu 37 1 111965594 111965594 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:111965594A>G ENST00000369732.3 - 6 618 c.563T>C c.(562-564)gTc>gCc p.V188A OVGP1_ENST00000540696.1_Missense_Mutation_p.V128A|OVGP1_ENST00000481495.1_5'UTR NM_002557.3 NP_002548.3 Q12889 OVGP1_HUMAN oviductal glycoprotein 1, 120kDa 188 chitin catabolic process|female pregnancy|single fertilization transport vesicle cation binding|chitinase activity NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1) 39 all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302) Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14) GATGTGTGGGACCCCAGAAAC 0.542000 24 334 0 0 1 0 0 PTCH2 8643 broad.mit.edu 37 1 45295429 45295429 + Missense_Mutation SNP C C G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:45295429C>G ENST00000447098.2 - 8 951 c.940G>C c.(940-942)Gag>Cag p.E314Q PTCH2_ENST00000372192.3_Missense_Mutation_p.E314Q NM_001166292.1 NP_001159764.1 Q9Y6C5 PTC2_HUMAN patched 2 314 protein complex assembly|spermatogenesis integral to plasma membrane hedgehog receptor activity NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 50 Acute lymphoblastic leukemia(166;0.155) TGCAGGGCCTCTGCCCTGGTG 0.592000 Basal Cell Nevus syndrome 16 47 0 0 1 0 0 CES1 1066 broad.mit.edu 37 16 55846878 55846878 + Silent SNP A A G rs142672064 by1000genomes TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:55846878A>G ENST00000422046.2 - 9 1301 c.1020T>C c.(1018-1020)aaT>aaC p.N340N CES1_ENST00000361503.4_Silent_p.N340N|CES1_ENST00000360526.3_Silent_p.N341N P23141 EST1_HUMAN carboxylesterase 1 340 response to toxin endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity all cancers(182;0.13)|Epithelial(162;0.137) Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691) CAGTGTGGAAATTCCTTTCAG 0.512000 36 79 0 0 1 0 0 CNKSR3 154043 broad.mit.edu 37 6 154763422 154763422 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:154763422A>G ENST00000607772.1 - 3 763 c.219T>C c.(217-219)aaT>aaC p.N73N CNKSR3_ENST00000479339.1_5'UTR NM_173515.2 NP_775786.2 Q6P9H4 CNKR3_HUMAN CNKSR family member 3 73 negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport cytoplasm|membrane breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1) 15 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627) CGAGGCCATAATTCTGTGGAA 0.423000 33 85 0 0 1 0 0 FAP 2191 broad.mit.edu 37 2 163057115 163057115 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:163057115T>C ENST00000188790.4 - 15 1445 c.1238A>G c.(1237-1239)aAt>aGt p.N413S FAP_ENST00000443424.1_Missense_Mutation_p.N388S NM_004460.2 NP_004451.2 Q12884 SEPR_HUMAN fibroblast activation protein, alpha 413 endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4) 63 TTCAAATTCATTGCTAGAATA 0.234000 9 18 0 0 1 0 0 CARM1 10498 broad.mit.edu 37 19 11022950 11022950 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:11022950A>G ENST00000327064.4 + 5 839 c.649A>G c.(649-651)Acc>Gcc p.T217A CARM1_ENST00000344150.4_Missense_Mutation_p.T217A NM_199141.1 NP_954592.1 Q86X55 CARM1_HUMAN coactivator-associated arginine methyltransferase 1 217 cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleoplasm beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1) 13 GGAGGCCAGCACCATGGCCCA 0.632000 7 275 0 0 1 0 0 COPS4 51138 broad.mit.edu 37 4 83978433 83978433 + Missense_Mutation SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:83978433A>T ENST00000509093.1 + 6 1365 c.587A>T c.(586-588)gAt>gTt p.D196V COPS4_ENST00000503682.1_Missense_Mutation_p.D196V|COPS4_ENST00000264389.2_Missense_Mutation_p.D196V|COPS4_ENST00000511653.1_Missense_Mutation_p.D196V NM_001258006.1 NP_001244935.1 Q9BT78 CSN4_HUMAN COP9 signalosome subunit 4 196 cullin deneddylation cytoplasm|signalosome protein binding endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(2) 13 Hepatocellular(203;0.114) CGTGTTCTTGATTATAGAAGA 0.348000 6 73 0 0 1 0 0 SLC25A13 10165 broad.mit.edu 37 7 95799391 95799391 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:95799391A>G ENST00000416240.2 - 13 1470 c.1280T>C c.(1279-1281)gTc>gCc p.V427A SLC25A13_ENST00000542654.1_Missense_Mutation_p.V318A|SLC25A13_ENST00000265631.5_Missense_Mutation_p.V426A NM_001160210.1|NM_014251.2 NP_001153682.1|NP_055066.1 Q9UJS0 CMC2_HUMAN solute carrier family 25 (aspartate/glutamate carrier), member 13 426 ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion integral to plasma membrane|mitochondrial inner membrane calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4) 42 all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07) STAD - Stomach adenocarcinoma(171;0.194) L-Aspartic Acid(DB00128) TGCAAGTGGGACCGAACCATC 0.353000 35 139 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 2813199 2813199 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:2813199G>A ENST00000520002.1 - 65 10464 c.9909C>T c.(9907-9909)tgC>tgT p.C3303C CSMD1_ENST00000602557.1_Silent_p.C3303C|CSMD1_ENST00000602723.1_Silent_p.C3126C|CSMD1_ENST00000542608.1_Silent_p.C3125C|CSMD1_ENST00000537824.1_Silent_p.C3302C|CSMD1_ENST00000400186.3_Silent_p.C3126C Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 3303 Sushi 28. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) AGCCTGGATGGCAGGTGTACA 0.502000 53 113 0 0 1 0 0 DIRAS3 9077 broad.mit.edu 37 1 68512579 68512579 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:68512579G>A ENST00000370981.1 - 4 1038 c.402C>T c.(400-402)atC>atT p.I134I GNG12-AS1_ENST00000413628.1_RNA|GNG12-AS1_ENST00000420587.1_RNA|DIRAS3_ENST00000395201.1_Silent_p.I134I O95661 DIRA3_HUMAN DIRAS family, GTP-binding RAS-like 3 134 regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 TGATCTTGCAGATCAGCTCAT 0.547000 45 192 0 0 1 0 0 ABCD2 225 broad.mit.edu 37 12 40012818 40012818 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:40012818A>G ENST00000308666.3 - 1 735 c.600T>C c.(598-600)gaT>gaC p.D200D NM_005164.3 NP_005155.1 Q9UBJ2 ABCD2_HUMAN ATP-binding cassette, sub-family D (ALD), member 2 200 ABC transmembrane type-1.|Interaction with PEX19. fatty acid metabolic process|transport ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane ATP binding|ATPase activity|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 52 CCAGCCTCCCATCCATATTGA 0.413000 18 138 0 0 1 0 0 ASF1B 55723 broad.mit.edu 37 19 14231467 14231467 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:14231467T>C ENST00000263382.3 - 4 912 c.413A>G c.(412-414)aAc>aGc p.N138S ASF1B_ENST00000592798.1_Missense_Mutation_p.N79S NM_018154.2 NP_060624.1 Q9NVP2 ASF1B_HUMAN anti-silencing function 1B histone chaperone 138 Interaction with CHAF1B.|Interaction with histone H3 (By similarity). cell differentiation|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus endometrium(2)|large_intestine(2)|lung(2)|ovary(1) 7 GGCCAAGATGTTCCGCTGGAG 0.607000 6 49 0 0 1 0 0 HSPA8 3312 broad.mit.edu 37 11 122928453 122928453 + Missense_Mutation SNP C C G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:122928453C>G ENST00000534624.1 - 9 2206 c.1930G>C c.(1930-1932)Gag>Cag p.E644Q HSPA8_ENST00000453788.2_Missense_Mutation_p.E491Q|HSPA8_ENST00000227378.3_Missense_Mutation_p.E644Q|HSPA8_ENST00000526110.1_Missense_Mutation_p.E625Q|HSPA8_ENST00000534319.1_Missense_Mutation_p.E408Q|HSPA8_ENST00000533540.1_Missense_Mutation_p.E498Q|HSPA8_ENST00000532636.1_Missense_Mutation_p.E644Q NM_006597.4 NP_006588.1 P11142 HSP7C_HUMAN heat shock 70kDa protein 8 644 cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex ATP binding|ATPase activity, coupled|protein binding breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1) 36 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) TAATCAACCTCTTCAATGGTG 0.483000 21 88 0 0 1 0 0 FZD9 8326 broad.mit.edu 37 7 72849113 72849113 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:72849113G>A ENST00000344575.3 + 1 1005 c.776G>A c.(775-777)cGc>cAc p.R259H NM_003508.2 NP_003499.1 O00144 FZD9_HUMAN frizzled family receptor 9 259 B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1) 14 Lung NSC(55;0.0659)|all_lung(88;0.152) GAGCCCCACCGCTTCCAGTAC 0.637000 5 234 0 0 1 0 0 CNPY4 245812 broad.mit.edu 37 7 99722182 99722182 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:99722182T>C ENST00000262932.3 + 5 643 c.511T>C c.(511-513)Tac>Cac p.Y171H CNPY4_ENST00000480692.1_3'UTR|RP11-506M12.1_ENST00000494221.1_RNA NM_152755.1 NP_689968.1 Q8N129 CNPY4_HUMAN canopy FGF signaling regulator 4 171 Glu-rich. extracellular region breast(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 7 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GGGAGACTGGTACTTCCACCA 0.507000 27 77 0 0 1 0 0 GTF2F1 2962 broad.mit.edu 37 19 6380415 6380415 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:6380415G>A ENST00000394456.5 - 13 1895 c.1431C>T c.(1429-1431)ttC>ttT p.F477F GTF2F1_ENST00000429701.2_Silent_p.F392F NM_002096.2 NP_002087.2 P35269 T2FA_HUMAN general transcription factor IIF, polypeptide 1, 74kDa 477 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cell junction|transcription factor TFIIF complex catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4) 16 TCTTGGTCTGGAACTTTTTCA 0.577000 5 260 0 0 1 0 0 DOPEY1 23033 broad.mit.edu 37 6 83810446 83810446 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:83810446A>G ENST00000349129.2 + 4 421 c.161A>G c.(160-162)tAc>tGc p.Y54C DOPEY1_ENST00000237163.5_Missense_Mutation_p.Y54C|DOPEY1_ENST00000536812.1_Missense_Mutation_p.Y54C|DOPEY1_ENST00000369739.3_Missense_Mutation_p.Y54C NM_015018.3 NP_055833.2 Q5JWR5 DOP1_HUMAN dopey family member 1 54 protein transport breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 67 all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203) BRCA - Breast invasive adenocarcinoma(397;0.053) AATGCAAAGTACCAAGTAGTA 0.358000 45 151 0 0 1 0 0 NT5DC3 51559 broad.mit.edu 37 12 104186974 104186974 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:104186974A>G ENST00000392876.3 - 9 1027 c.987T>C c.(985-987)gcT>gcC p.A329A NM_001031701.2 NP_001026871.1 Q86UY8 NT5D3_HUMAN 5'-nucleotidase domain containing 3 329 hydrolase activity|metal ion binding NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2) 30 TTGGCTTCTCAGCCTGAACAA 0.428000 109 187 0 0 1 0 0 KIF1A 547 broad.mit.edu 37 2 241700726 241700726 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:241700726T>C ENST00000498729.2 - 24 2431 c.2185A>G c.(2185-2187)Acg>Gcg p.T729A KIF1A_ENST00000320389.7_Missense_Mutation_p.T720A NM_001244008.1 NP_001230937.1 Q12756 KIF1A_HUMAN kinesin family member 1A 720 anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 66 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) CGCAGAGACGTGAACTGGTAC 0.612000 5 115 0 0 1 0 0 AKAP13 11214 broad.mit.edu 37 15 86265261 86265261 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:86265261G>A ENST00000394518.2 + 24 6387 c.6292G>A c.(6292-6294)Ggc>Agc p.G2098S AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Missense_Mutation_p.G2102S|AKAP13_ENST00000394510.2_Missense_Mutation_p.G343S NM_001270546.1|NM_007200.3 NP_001257475.1|NP_009131.2 Q12802 AKP13_HUMAN A kinase (PRKA) anchor protein 13 2098 DH.|Interaction with ESR1. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 98 GAAGACATATGGCAAGTTTTG 0.383000 6 100 0 0 1 0 0 TPP1 1200 broad.mit.edu 37 11 6636694 6636694 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:6636694C>T ENST00000533371.1 - 9 1314 c.516G>A c.(514-516)gtG>gtA p.V172V TPP1_ENST00000299427.6_Silent_p.V415V O14773 TPP1_HUMAN tripeptidyl peptidase I 415 bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis lysosome|melanosome|soluble fraction metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131) GCCGTGGGAACACATTGCTGA 0.527000 16 50 0 0 1 0 0 EZR 7430 broad.mit.edu 37 6 159188024 159188024 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:159188024G>A ENST00000367075.3 - 14 1851 c.1683C>T c.(1681-1683)ggC>ggT p.G561G EZR_ENST00000337147.7_Silent_p.G561G|EZR_ENST00000392177.4_Silent_p.G529G NM_001111077.1 NP_001104547.1 P15311 EZRI_HUMAN ezrin 561 Interaction with SCYL3. actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane actin filament binding|cell adhesion molecule binding EZR/ROS1(4) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2) 15 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06) ACTTGTCCCGGCCTTGCCTCA 0.582000 T ROS1 NSCLC 59 142 0 0 1 0 0 LYST 1130 broad.mit.edu 37 1 235966293 235966293 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:235966293A>G ENST00000389794.3 - 8 3801 c.3627T>C c.(3625-3627)tgT>tgC p.C1209C LYST_ENST00000536965.1_Silent_p.C1209C|LYST_ENST00000389793.2_Silent_p.C1209C Q99698 LYST_HUMAN lysosomal trafficking regulator 1209 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) TAAAACTACAACACTGAGAAT 0.373000 7 40 0 0 1 0 0 EGR2 1959 broad.mit.edu 37 10 64573155 64573155 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:64573155G>A ENST00000242480.3 - 2 1568 c.1243C>T c.(1243-1245)Cgc>Tgc p.R415C EGR2_ENST00000439032.1_Missense_Mutation_p.R415C|EGR2_ENST00000411732.1_Missense_Mutation_p.R365C NM_000399.3|NM_001136177.1 NP_000390.2|NP_001129649.1 P11161 EGR2_HUMAN early growth response 2 415 fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter cytoplasm|nucleus chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1) 36 Prostate(12;0.0297)|all_hematologic(501;0.228) TTGGTGTGGCGCTTCCTCTCA 0.612000 23 124 0 0 1 0 0 ERBB2IP 55914 broad.mit.edu 37 5 65342330 65342330 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:65342330C>T ENST00000284037.5 + 18 2141 c.1752C>T c.(1750-1752)aaC>aaT p.N584N ERBB2IP_ENST00000380936.1_Silent_p.N584N|ERBB2IP_ENST00000380939.2_Silent_p.N584N|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000380938.2_Silent_p.N584N|ERBB2IP_ENST00000511297.1_Silent_p.N580N|ERBB2IP_ENST00000380943.2_Silent_p.N584N|ERBB2IP_ENST00000506030.1_Silent_p.N584N|ERBB2IP_ENST00000508515.1_Silent_p.N584N|ERBB2IP_ENST00000380935.1_Silent_p.N584N NM_001253697.1 NP_001240626.1 Q96RT1 LAP2_HUMAN erbb2 interacting protein 584 basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization basement membrane|cytoplasm|hemidesmosome|nucleus ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2) 36 Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234) UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191) CCTCTGAGAACTTGAAGCATA 0.333000 8 226 0 0 1 0 0 ZNF585A 199704 broad.mit.edu 37 19 37643959 37643959 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:37643959T>C ENST00000356958.4 - 5 1100 c.842A>G c.(841-843)cAg>cGg p.Q281R ZNF585A_ENST00000355533.2_Missense_Mutation_p.Q226R|ZNF585A_ENST00000292841.5_Missense_Mutation_p.Q226R|ZNF585A_ENST00000392157.2_Missense_Mutation_p.Q226R|ZNF585A_ENST00000588723.1_Intron Q6P3V2 Z585A_HUMAN zinc finger protein 585A 281 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) ATGGGTCTTCTGGATGAAGGC 0.433000 6 229 0 0 1 0 0 MTMR8 55613 broad.mit.edu 37 X 63548661 63548661 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chrX:63548661T>C ENST00000374852.3 - 12 1539 c.1472A>G c.(1471-1473)tAc>tGc p.Y491C MTMR8_ENST00000453546.1_Intron NM_017677.3 NP_060147.2 Q96EF0 MTMR8_HUMAN myotubularin related protein 8 491 Myotubularin phosphatase. nuclear envelope protein tyrosine phosphatase activity p.0?(1) breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3) 37 CTGAATGTTGTAGGGCACAGT 0.463000 20 21 0 0 1 0 0 GREM1 26585 broad.mit.edu 37 15 33023168 33023168 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:33023168T>C ENST00000300177.4 + 2 466 c.277T>C c.(277-279)Tgg>Cgg p.W93R GREM1_ENST00000322805.4_Missense_Mutation_p.W52R|GREM1_ENST00000560830.1_Missense_Mutation_p.W52R|GREM1_ENST00000560677.1_3'UTR NM_001191322.1|NM_001191323.1|NM_013372.6 NP_001178251.1|NP_001178252.1|NP_037504.1 O60565 GREM1_HUMAN gremlin 1, DAN family BMP antagonist 93 negative regulation of BMP signaling pathway|nervous system development|regulation of epithelial to mesenchymal transition extracellular space cytokine activity breast(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1) 10 all_lung(180;1.49e-09) all cancers(64;2.97e-18)|Epithelial(43;3.15e-12)|GBM - Glioblastoma multiforme(186;2.32e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0107) GAAGCGAGACTGGTGCAAAAC 0.607000 15 52 0 0 1 0 0 NBEAL2 23218 broad.mit.edu 37 3 47043455 47043455 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:47043455G>A ENST00000450053.3 + 31 5007 c.4828G>A c.(4828-4830)Gca>Aca p.A1610T NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Missense_Mutation_p.A1426T NM_015175.2 NP_055990.1 Q6ZNJ1 NBEL2_HUMAN neurobeachin-like 2 1610 binding NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 Acute lymphoblastic leukemia(5;0.0534) BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656) GCTACAGACTGCAGTGCCAGC 0.622000 13 35 0 0 1 0 0 ALPK3 57538 broad.mit.edu 37 15 85400612 85400612 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:85400612G>A ENST00000258888.5 + 6 3416 c.3249G>A c.(3247-3249)gcG>gcA p.A1083A NM_020778.4 NP_065829.3 Q96L96 ALPK3_HUMAN alpha-kinase 3 1083 heart development nucleus ATP binding|protein serine/threonine kinase activity NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 BRCA - Breast invasive adenocarcinoma(143;0.0587) GCCCAAAGGCGGGGCCGTGTA 0.617000 19 56 0 0 1 0 0 ROBO1 6091 broad.mit.edu 37 3 78710237 78710237 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:78710237A>G ENST00000436010.2 - 14 3143 c.2146T>C c.(2146-2148)Ttt>Ctt p.F716L ROBO1_ENST00000467549.1_Missense_Mutation_p.F719L|ROBO1_ENST00000464233.1_Missense_Mutation_p.F755L|ROBO1_ENST00000495273.1_Missense_Mutation_p.F719L Q9Y6N7 ROBO1_HUMAN roundabout, axon guidance receptor, homolog 1 (Drosophila) 755 Fibronectin type-III 2. activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1) 44 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) AATTCATTAAAAAAAGGGCGA 0.403000 11 26 0 0 1 0 0 LTBP2 4053 broad.mit.edu 37 14 75078569 75078569 + Missense_Mutation SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:75078569C>A ENST00000261978.4 - 1 465 c.79G>T c.(79-81)Gct>Tct p.A27S LTBP2_ENST00000557425.1_Intron|LTBP2_ENST00000556690.1_Missense_Mutation_p.A27S NM_000428.2 NP_000419.1 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding protein 2 27 protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) ACGAAGAGAGCCAGGGTGAGC 0.721000 7 23 8.12818e-05 8.26188e-05 1 1 0 UEVLD 55293 broad.mit.edu 37 11 18587996 18587996 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:18587996T>C ENST00000396197.3 - 5 419 c.391A>G c.(391-393)Atg>Gtg p.M131V UEVLD_ENST00000540666.1_5'UTR|UEVLD_ENST00000541984.1_Intron|UEVLD_ENST00000543987.1_Missense_Mutation_p.M131V|UEVLD_ENST00000535484.1_Missense_Mutation_p.M93V|UEVLD_ENST00000320750.6_Missense_Mutation_p.M109V|UEVLD_ENST00000379387.4_Missense_Mutation_p.M109V|UEVLD_ENST00000300038.7_Missense_Mutation_p.M131V NM_001040697.2|NM_001261384.1 NP_001035787.1|NP_001248313.1 Q8IX04 UEVLD_HUMAN UEV and lactate/malate dehyrogenase domains 131 UEV. cellular carbohydrate metabolic process|protein modification process|protein transport binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 TTGGCAATCATTTCTTTAATT 0.353000 14 45 0 0 1 0 0 AHDC1 27245 broad.mit.edu 37 1 27877191 27877191 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:27877191G>A ENST00000374011.2 - 6 2404 c.1436C>T c.(1435-1437)gCc>gTc p.A479V AHDC1_ENST00000247087.5_Missense_Mutation_p.A479V|AHDC1_ENST00000482400.2_Intron NM_001029882.2 NP_001025053.1 Q5TGY3 AHDC1_HUMAN AT hook, DNA binding motif, containing 1 479 DNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291) GGGGATCTTGGCCATCTTCAC 0.622000 9 27 0 0 1 0 0 EPDR1 54749 broad.mit.edu 37 7 37989894 37989894 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:37989894T>C ENST00000199448.4 + 3 950 c.571T>C c.(571-573)Ttt>Ctt p.F191L EPDR1_ENST00000559325.1_Missense_Mutation_p.F311L|EPDR1_ENST00000476620.1_Missense_Mutation_p.F89L|EPDR1_ENST00000425345.1_Missense_Mutation_p.F130L NM_017549.4 NP_060019.2 Q9UM22 EPDR1_HUMAN ependymin related 1 191 cell-matrix adhesion extracellular region calcium ion binding breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 22 GTCTACGCGGTTTTTTGACAT 0.468000 9 36 0 0 1 0 0 OR13J1 392309 broad.mit.edu 37 9 35870045 35870045 + Silent SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:35870045C>A ENST00000377981.2 - 1 416 c.354G>T c.(352-354)acG>acT p.T118T NM_001004487.1 NP_001004487.1 Q8NGT2 O13J1_HUMAN olfactory receptor, family 13, subfamily J, member 1 118 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1) 6 all_epithelial(49;0.169) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194) GGTCATAGGCCGTGATGGCCA 0.617000 24 70 6.44725e-10 6.67513e-10 1 1 0 SCN9A 6335 broad.mit.edu 37 2 167055439 167055439 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:167055439G>A ENST00000303354.6 - 27 6053 c.5713C>T c.(5713-5715)Cgc>Tgc p.R1905C SCN9A_ENST00000409672.1_Missense_Mutation_p.R1893C|SCN9A_ENST00000409435.1_Missense_Mutation_p.R1904C|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000375387.4_Missense_Mutation_p.R1905C Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 1904 IQ. voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) TGCCTTAAGCGGTAACGTCTA 0.353000 30 135 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152419202 152419202 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:152419202A>G ENST00000397345.3 - 120 19016 c.18814T>C c.(18814-18816)Tat>Cat p.Y6272H NEB_ENST00000409198.1_Missense_Mutation_p.Y4571H|NEB_ENST00000172853.10_Missense_Mutation_p.Y4571H|NEB_ENST00000427231.2_Missense_Mutation_p.Y6272H|NEB_ENST00000603639.1_Missense_Mutation_p.Y6272H|NEB_ENST00000604864.1_Missense_Mutation_p.Y6272H NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 6281 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) TGGTGGAAATAGTGTCGATAC 0.473000 8 22 0 0 1 0 0 SPOCK1 6695 broad.mit.edu 37 5 136324330 136324330 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:136324330A>G ENST00000394945.1 - 8 878 c.709T>C c.(709-711)Ttt>Ctt p.F237L SPOCK1_ENST00000282223.7_Missense_Mutation_p.F237L|SPOCK1_ENST00000509978.1_5'UTR NM_004598.3 NP_004589.1 Q08629 TICN1_HUMAN sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1 237 cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction proteinaceous extracellular matrix calcium ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1) 18 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CTAGTGTCAAACCCTGCCAAA 0.532000 12 32 0 0 1 0 0 ADAM23 8745 broad.mit.edu 37 2 207460793 207460793 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:207460793A>G ENST00000264377.3 + 24 2594 c.2266A>G c.(2266-2268)Acc>Gcc p.T756A ADAM23_ENST00000374416.1_Missense_Mutation_p.T756A|ADAM23_ENST00000374415.3_Missense_Mutation_p.T756A NM_003812.2 NP_003803.1 O75077 ADA23_HUMAN ADAM metallopeptidase domain 23 756 EGF-like. cell adhesion|central nervous system development|proteolysis extracellular region|integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 51 LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205) TAATGAAGCCACCTGCATTTG 0.453000 7 28 0 0 1 0 0 PTPRS 5802 broad.mit.edu 37 19 5208367 5208367 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:5208367G>A ENST00000372412.4 - 36 5759 c.5526C>T c.(5524-5526)ttC>ttT p.F1842F PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000353284.2_Silent_p.F1394F|PTPRS_ENST00000588012.1_Silent_p.F1803F|PTPRS_ENST00000357368.4_Silent_p.F1841F|PTPRS_ENST00000587303.1_Silent_p.F1841F|PTPRS_ENST00000348075.2_Silent_p.F1803F|PTPRS_ENST00000262963.6_Silent_p.F1821F|PTPRS_ENST00000592099.1_Silent_p.F1394F Q13332 PTPRS_HUMAN protein tyrosine phosphatase, receptor type, S 1841 Tyrosine-protein phosphatase 2. cell adhesion integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1) 61 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182) GCCAGTCTGTGAACTGGAACT 0.577000 6 28 0 0 1 0 0 CYP4F8 11283 broad.mit.edu 37 19 15740180 15740180 + RNA SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:15740180A>G ENST00000441682.2 + 0 1636 P98187 CP4F8_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 8 prostaglandin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1) 26 GCCTGCAGTGACCCACCCACC 0.582000 3 21 0 0 1 0 0 PCDHB8 56128 broad.mit.edu 37 5 140559417 140559417 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:140559417C>T ENST00000239444.2 + 1 2047 c.1802C>T c.(1801-1803)gCc>gTc p.A601V NM_019120.3 NP_061993.2 Q9UN66 PCDB8_HUMAN 601 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGCCAGAACGCCTGGCTGTCG 0.721000 6 285 0 0 1 0 0 RHBDL2 54933 broad.mit.edu 37 1 39384785 39384785 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:39384785C>T ENST00000289248.2 - 2 1108 c.100G>A c.(100-102)Ggg>Agg p.G34R RHBDL2_ENST00000538156.1_Missense_Mutation_p.G101R|RHBDL2_ENST00000540558.1_Missense_Mutation_p.G34R|RP5-864K19.4_ENST00000433671.2_RNA|RHBDL2_ENST00000372985.3_Missense_Mutation_p.G114R|RHBDL2_ENST00000372990.1_Missense_Mutation_p.G34R Q9NX52 RHBL2_HUMAN rhomboid, veinlet-like 2 (Drosophila) 34 proteolysis integral to membrane|plasma membrane serine-type endopeptidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3) 8 Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;8.23e-17) TTACCTCCCCCATCCTCTCTC 0.473000 37 130 0 0 1 0 0 TLDC1 57707 broad.mit.edu 37 16 84529368 84529368 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:84529368T>C ENST00000343629.6 - 3 487 c.305A>G c.(304-306)aAc>aGc p.N102S RP11-517C16.4_ENST00000568771.1_RNA|TLDC1_ENST00000561807.1_5'UTR|TLDC1_ENST00000535580.1_Missense_Mutation_p.N75S NM_020947.3 NP_065998.3 TBC/LysM-associated domain containing 1 CTCCTCGGAGTTTCCTTTCAA 0.547000 35 111 0 0 1 0 0 UPP1 7378 broad.mit.edu 37 7 48147071 48147071 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:48147071T>C ENST00000331803.4 + 9 1383 c.760T>C c.(760-762)Ttt>Ctt p.F254L UPP1_ENST00000341253.4_Missense_Mutation_p.F254L|UPP1_ENST00000429491.2_Missense_Mutation_p.F117L|UPP1_ENST00000395564.4_Missense_Mutation_p.F254L|UPP1_ENST00000482015.1_3'UTR Q16831 UPP1_HUMAN uridine phosphorylase 1 254 nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage cytosol uridine phosphorylase activity breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 18 GTCCTCGGTGTTTGCCGCCAT 0.637000 19 87 0 0 1 0 0 CCDC92 80212 broad.mit.edu 37 12 124427915 124427915 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:124427915G>A ENST00000545135.1 - 1 3405 c.109C>T c.(109-111)Cgg>Tgg p.R37W CCDC92_ENST00000544798.1_5'UTR|CCDC92_ENST00000545891.1_Missense_Mutation_p.R37W|CCDC92_ENST00000238156.3_Missense_Mutation_p.R54W Q53HC0 CCD92_HUMAN coiled-coil domain containing 92 54 large_intestine(5)|lung(2) 7 all_neural(191;0.101)|Medulloblastoma(191;0.163) Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242) TGCTGCAGCCGCCTGATCTCG 0.657000 34 129 0 0 1 0 0 AGL 178 broad.mit.edu 37 1 100343222 100343222 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:100343222A>G ENST00000294724.4 + 12 1927 c.1449A>G c.(1447-1449)gaA>gaG p.E483E AGL_ENST00000361522.4_Silent_p.E466E|AGL_ENST00000361915.3_Silent_p.E483E|AGL_ENST00000361302.3_Silent_p.E467E|AGL_ENST00000370161.2_Silent_p.E467E|AGL_ENST00000370165.3_Silent_p.E483E|AGL_ENST00000370163.3_Silent_p.E483E NM_000028.2 NP_000019.2 P35573 GDE_HUMAN amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase 483 glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol|isoamylase complex|nucleus 4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1) 69 all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131) Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237) TAAGGAGAGAACTTATTTGCT 0.363000 15 48 0 0 1 0 0 SNX25 83891 broad.mit.edu 37 4 186185657 186185657 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:186185657G>A ENST00000504273.1 + 4 599 c.305G>A c.(304-306)aGa>aAa p.R102K SNX25_ENST00000264694.8_Missense_Mutation_p.R102K Q9H3E2 SNX25_HUMAN sorting nexin 25 102 PXA. cell communication|protein transport endosome membrane phosphatidylinositol binding|signal transducer activity NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2) 40 all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243) all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228) GATGAAGTAAGATTTCTACAA 0.413000 6 98 0 0 1 0 0 TKTL2 84076 broad.mit.edu 37 4 164394269 164394269 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:164394269G>A ENST00000280605.3 - 1 778 c.618C>T c.(616-618)tgC>tgT p.C206C NM_032136.4 NP_115512.3 Q9H0I9 TKTL2_HUMAN transketolase-like 2 206 cytoplasm metal ion binding|transketolase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 70 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) AGGCTTCACAGCAATTCTGGT 0.507000 24 75 0 0 1 0 0 EPHB4 2050 broad.mit.edu 37 7 100410812 100410812 + Missense_Mutation SNP T T G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:100410812T>G ENST00000358173.3 - 11 2243 c.1775A>C c.(1774-1776)gAc>gCc p.D592A EPHB4_ENST00000360620.3_Missense_Mutation_p.D592A NM_004444.4 NP_004435.3 P54760 EPHB4_HUMAN EPH receptor B4 592 cell proliferation|organ morphogenesis|regulation of angiogenesis cell surface|integral to plasma membrane ATP binding|ephrin receptor activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3) 47 Lung NSC(181;0.041)|all_lung(186;0.0581) AGTGAAGGGGTCGATGTAGAC 0.507000 9 65 0 0 1 0 0 TBX5 6910 broad.mit.edu 37 12 114841573 114841573 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:114841573G>A ENST00000310346.4 - 2 797 c.131C>T c.(130-132)gCc>gTc p.A44V TBX5_ENST00000552726.1_5'UTR|TBX5_ENST00000405440.2_Missense_Mutation_p.A44V|TBX5_ENST00000349716.5_Intron|TBX5_ENST00000526441.1_Missense_Mutation_p.A44V NM_000192.3 NP_000183.2 Q99593 TBX5_HUMAN T-box 5 44 GFGLAHTPLEPDAKDLPCDSKPESALGAPSKSPSSPQAAFT QQ -> ALAGAHLWSLTQKTCLRFEPRARSGPPASPPGRPR SRLHPA (in Ref. 1; CAA70592). 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 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) GGTGAAGGCGGCCTGCGGGGA 0.647000 28 125 0 0 1 0 0 DACH1 1602 broad.mit.edu 37 13 72440846 72440846 + Missense_Mutation SNP G G C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr13:72440846G>C ENST00000305425.4 - 1 484 c.62C>G c.(61-63)tCc>tGc p.S21C DACH1_ENST00000354591.4_Missense_Mutation_p.S21C|DACH1_ENST00000359684.2_Missense_Mutation_p.S21C|DACH1_ENST00000313174.7_Missense_Mutation_p.S21C NM_080759.4 NP_542937.2 Q9UI36 DACH1_HUMAN dachshund homolog 1 (Drosophila) 21 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|nucleotide binding|protein binding NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198) GBM - Glioblastoma multiforme(99;0.00032) AGCAGACGTGGAGATTGGGGG 0.632000 12 24 0 0 1 0 0 MERTK 10461 broad.mit.edu 37 2 112779062 112779062 + Silent SNP C C T rs149178674 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:112779062C>T ENST00000295408.4 + 17 2510 c.2253C>T c.(2251-2253)ggC>ggT p.G751G MERTK_ENST00000409780.1_Silent_p.G575G|MERTK_ENST00000421804.2_Silent_p.G751G Q12866 MERTK_HUMAN c-mer proto-oncogene tyrosine kinase 751 Protein kinase. cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity p.G751G(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10) 46 TTTACAGTGGCGATTATTACC 0.478000 40 100 0 0 1 0 0 CCIN 881 broad.mit.edu 37 9 36169867 36169867 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:36169867T>C ENST00000335119.2 + 1 479 c.368T>C c.(367-369)tTc>tCc p.F123S NM_005893.2 NP_005884.2 Q13939 CALI_HUMAN calicin 123 BTB. cell differentiation|multicellular organismal development|spermatogenesis cytoskeletal calyx structural constituent of cytoskeleton breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4) 21 STAD - Stomach adenocarcinoma(86;0.228) TGTAACGACTTCCTTATTAAG 0.502000 8 120 0 0 1 0 0 GSK3A 2931 broad.mit.edu 37 19 42744142 42744142 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:42744142C>T ENST00000398249.4 - 1 1903 c.190G>A c.(190-192)Gcc>Acc p.A64T GSK3A_ENST00000222330.3_Missense_Mutation_p.A146T|AC006486.9_ENST00000594664.1_Missense_Mutation_p.A59T P49840 GSK3A_HUMAN glycogen synthase kinase 3 alpha 146 Gly-rich. insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of insulin receptor signaling pathway|negative regulation of transferase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process beta-catenin destruction complex|cytosol ATP binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|tau-protein kinase activity p.A146T(1) endometrium(3)|large_intestine(3)|lung(6)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1) 19 Prostate(69;0.00682) TTCTTGATGGCGACTAGTTCC 0.572000 21 34 0 0 1 0 0 NLRP1 22861 broad.mit.edu 37 17 5405138 5405138 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:5405138T>C ENST00000262467.5 - 16 4697 c.4124A>G c.(4123-4125)tAc>tGc p.Y1375C NM_001033053.2 NP_001028225.1 Q9C000 NALP1_HUMAN NLR family, pyrin domain containing 1 0 CARD. defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide cytoplasm|NALP1 inflammasome complex|nucleus ATP binding|caspase activator activity|enzyme binding|protein domain specific binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Colorectal(1115;3.48e-05) TGGGCACTAGTATCTCCTGGC 0.557000 4 62 0 0 1 0 0 ZNF230 7773 broad.mit.edu 37 19 44513052 44513052 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:44513052G>A ENST00000429154.2 + 3 354 c.126G>A c.(124-126)acG>acA p.T42T ZNF230_ENST00000585632.1_Silent_p.T42T NM_006300.3 NP_006291.2 Q9UIE0 ZN230_HUMAN zinc finger protein 230 42 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2) 22 Prostate(69;0.0352) AGAACTTCACGAACCTGCTGT 0.517000 62 185 0 0 1 0 0 HTR3C 170572 broad.mit.edu 37 3 183774697 183774697 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:183774697G>A ENST00000318351.1 + 5 458 c.424G>A c.(424-426)Gcc>Acc p.A142T NM_130770.2 NP_570126.2 Q8WXA8 5HT3C_HUMAN 5-hydroxytryptamine (serotonin) receptor 3C, ionotropic 142 integral to membrane|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2) 32 all_cancers(143;2.33e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) CGGTCTCACTGCCTATATCAG 0.493000 33 121 0 0 1 0 0 NTPCR 84284 broad.mit.edu 37 1 233113938 233113938 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:233113938G>A ENST00000366628.4 + 5 621 c.534G>A c.(532-534)ctG>ctA p.L178L NTPCR_ENST00000490098.1_3'UTR NM_032324.1 NP_115700.1 Q9BSD7 NTPCR_HUMAN nucleoside-triphosphatase, cancer-related 178 ATP binding|nucleoside-triphosphatase activity|nucleotide phosphatase activity|transferase activity large_intestine(2)|lung(1)|ovary(1) 4 ACCACCTTCTGCCAGATATCG 0.517000 6 36 0 0 1 0 0 DYX1C1 161582 broad.mit.edu 37 15 55790030 55790030 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:55790030C>T ENST00000321149.3 - 3 518 c.151G>A c.(151-153)Gca>Aca p.A51T DYX1C1-CCPG1_ENST00000565113.1_RNA|DYX1C1_ENST00000380679.1_Missense_Mutation_p.A51T|DYX1C1_ENST00000448430.2_Missense_Mutation_p.A51T|DYX1C1_ENST00000348518.3_Missense_Mutation_p.A51T|DYX1C1_ENST00000457155.2_Missense_Mutation_p.A51T NM_130810.3 NP_570722.2 Q8WXU2 DYXC1_HUMAN dyslexia susceptibility 1 candidate 1 51 CS.|Mediates interaction with ESR1 and STUB1. neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process cytoplasm|nucleus estrogen receptor binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 18 all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171) TAAAGAAATGCCTCAAATAAA 0.393000 30 74 0 0 1 0 0 FNDC3A 22862 broad.mit.edu 37 13 49775950 49775950 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr13:49775950A>G ENST00000492622.2 + 24 3307 c.3002A>G c.(3001-3003)tAc>tGc p.Y1001C FNDC3A_ENST00000398316.3_Missense_Mutation_p.Y945C|FNDC3A_ENST00000541916.1_Missense_Mutation_p.Y1001C NM_001079673.1 NP_001073141.1 Q9Y2H6 FND3A_HUMAN fibronectin type III domain containing 3A 1001 Fibronectin type-III 8. Golgi membrane|integral to membrane endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1) 41 all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;2.94e-09) GTATCCCTATACAGAGGACCA 0.328000 4 40 0 0 1 0 0 COLGALT2 23127 broad.mit.edu 37 1 183909867 183909867 + Missense_Mutation SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:183909867A>T ENST00000361927.4 - 11 1823 c.1452T>A c.(1450-1452)aaT>aaA p.N484K COLGALT2_ENST00000367520.3_Missense_Mutation_p.N221K|COLGALT2_ENST00000546159.1_Missense_Mutation_p.N484K|COLGALT2_ENST00000367521.1_Missense_Mutation_p.N92K NM_015101.2 NP_055916.1 collagen beta(1-O)galactosyltransferase 2 GGTTTGCCACATTGGGCACTG 0.483000 28 80 0 0 1 0 0 EEPD1 80820 broad.mit.edu 37 7 36338672 36338672 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:36338672T>C ENST00000242108.4 + 8 2285 c.1567T>C c.(1567-1569)Tct>Cct p.S523P EEPD1_ENST00000534978.1_Missense_Mutation_p.S523P NM_030636.2 NP_085139.2 Q7L9B9 EEPD1_HUMAN endonuclease/exonuclease/phosphatase family domain containing 1 523 DNA repair DNA binding endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1) 18 GGATAACTGGTCTTGGGGCGG 0.592000 7 130 0 0 1 0 0 CRAT 1384 broad.mit.edu 37 9 131862173 131862173 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:131862173T>C ENST00000318080.2 - 8 1351 c.1057A>G c.(1057-1059)Acc>Gcc p.T353A RP11-247A12.1_ENST00000434250.1_RNA NM_000755.3|NM_001257363.1 NP_000746.2|NP_001244292.1 P43155 CACP_HUMAN carnitine O-acetyltransferase 353 energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix carnitine O-acetyltransferase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2) 13 UCEC - Uterine corpus endometrioid carcinoma (4;0.0178) L-Carnitine(DB00583) TCCAGAAGGGTGACAATAGGG 0.562000 4 120 0 0 1 0 0 ATP6V1E1 529 broad.mit.edu 37 22 18111367 18111367 + Splice_Site SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr22:18111367A>G ENST00000253413.5 - 1 216 c.e1+1 ATP6V1E1_ENST00000399796.2_Splice_Site|ATP6V1E1_ENST00000478963.1_Splice_Site|ATP6V1E1_ENST00000399798.2_Splice_Site NM_001696.3 NP_001687.1 P36543 VATE1_HUMAN ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1 cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport apical plasma membrane|cytosol|endosome|proton-transporting two-sector ATPase complex, catalytic domain protein binding|proton-transporting ATPase activity, rotational mechanism breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|urinary_tract(1) 10 all_epithelial(15;0.206) Lung(27;0.19) CAAGCCCCTCACCTGCTTTTG 0.632000 49 266 0 0 1 0 0 SYCP2 10388 broad.mit.edu 37 20 58461018 58461018 + Splice_Site SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:58461018C>T ENST00000357552.3 - 26 2719 c.2492_splice c.e26-1 p.G832_splice SYCP2_ENST00000371001.2_Splice_Site_p.G832_splice Q9BX26 SYCP2_HUMAN synaptonemal complex protein 2 832 cell division|meiotic prophase I|synaptonemal complex assembly DNA binding NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;1.19e-09) TTTGAAAAACCACTGTAAAAA 0.269000 4 23 0 0 1 0 0 NT5C1B 93034 broad.mit.edu 37 2 18765359 18765359 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:18765359C>T ENST00000304081.4 - 5 986 c.886G>A c.(886-888)Gtc>Atc p.V296I NT5C1B_ENST00000600945.1_Missense_Mutation_p.V356I|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.V356I|NT5C1B_ENST00000359846.2_Missense_Mutation_p.V356I NM_033253.3 NP_150278.2 5'-nucleotidase, cytosolic IB endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177) Ovarian(717;0.208) AATACCTTGACGAAGCGGAAC 0.572000 30 107 0 0 1 0 0 EPHB2 2048 broad.mit.edu 37 1 23240212 23240212 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:23240212A>G ENST00000400191.3 + 17 3035 c.3017A>G c.(3016-3018)gAc>gGc p.D1006G EPHB2_ENST00000374627.1_3'UTR|EPHB2_ENST00000374632.3_3'UTR|EPHB2_ENST00000374630.3_3'UTR NM_004442.6|NM_017449.3 NP_004433.2|NP_059145.2 P29323 EPHB2_HUMAN EPH receptor B2 1006 axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1) 56 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) CAGCCACGAGACGTCACCAAG 0.562000 5 23 0 0 1 0 0 ABL1 25 broad.mit.edu 37 9 133729579 133729579 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:133729579T>C ENST00000318560.5 + 2 589 c.208T>C c.(208-210)Tat>Cat p.Y70H NM_005157.4 NP_005148.2 P00519 ABL1_HUMAN c-abl oncogene 1, non-receptor tyrosine kinase 70 SH3. actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 1195 all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.4e-05) Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619) CGTTGCACTGTATGATTTTGT 0.478000 """T, Mis""" """BCR, ETV6, NUP214""" """CML, ALL, T-ALL""" 62 164 0 0 1 0 0 RIMS2 9699 broad.mit.edu 37 8 104831813 104831813 + Missense_Mutation SNP T T A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:104831813T>A ENST00000507740.1 + 1 314 c.78T>A c.(76-78)aaT>aaA p.N26K RIMS2_ENST00000262231.10_Missense_Mutation_p.N26K|RIMS2_ENST00000522174.1_3'UTR|RIMS2_ENST00000406091.3_Intron NM_014677.4 NP_055492.3 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 1018 RabBD. intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) CCCCACCAAATATCTTACAAA 0.323000 HNSCC(12;0.0054) 8 70 0 0 1 0 0 PLCB4 5332 broad.mit.edu 37 20 9364867 9364867 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:9364867G>A ENST00000378501.2 + 11 888 c.873G>A c.(871-873)ggG>ggA p.G291G PLCB4_ENST00000278655.4_Silent_p.G291G|PLCB4_ENST00000414679.2_Silent_p.G291G|PLCB4_ENST00000378493.1_Silent_p.G291G|PLCB4_ENST00000378473.3_Silent_p.G291G|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000334005.3_Silent_p.G291G NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 291 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 CAAGTGATGGGTTTTGCAGAT 0.418000 23 86 0 0 1 0 0 GALNTL6 442117 broad.mit.edu 37 4 173961102 173961102 + Missense_Mutation SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:173961102C>A ENST00000506823.1 + 13 2314 c.1657C>A c.(1657-1659)Cct>Act p.P553T GALNTL6_ENST00000508122.1_Missense_Mutation_p.P536T NM_001034845.2 NP_001030017.2 Q49A17 GLTL6_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6 553 Ricin B-type lectin. Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 45 ATTATTCCATCCTGTGAGCAA 0.428000 15 60 1.45105e-14 1.51837e-14 1 1 0 IPO4 79711 broad.mit.edu 37 14 24650800 24650800 + Silent SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:24650800G>T ENST00000354464.6 - 28 3140 c.2964C>A c.(2962-2964)gcC>gcA p.A988A RP11-468E2.2_ENST00000561419.1_3'UTR NM_024658.3 NP_078934.3 Q8TEX9 IPO4_HUMAN importin 4 988 intracellular protein transport cytoplasm|nucleus protein binding|protein transporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1) 33 GBM - Glioblastoma multiforme(265;0.0087) TCAGTGGCAGGGCATGCAGTA 0.622000 4 27 0.00024832 0.000251724 1 1 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274132 39274132 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:39274132G>A ENST00000391413.2 - 1 474 c.436C>T c.(436-438)Cgc>Tgc p.R146C NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 146 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) caagaggggcggcagcagctg 0.657000 12 54 0 0 1 0 0 EXOC6B 23233 broad.mit.edu 37 2 72740281 72740281 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:72740281C>T ENST00000272427.6 - 11 1277 c.1147G>A c.(1147-1149)Gca>Aca p.A383T EXOC6B_ENST00000410104.1_Missense_Mutation_p.A383T NM_015189.1 NP_056004.1 Q9Y2D4 EXC6B_HUMAN exocyst complex component 6B 383 protein transport|vesicle docking involved in exocytosis exocyst breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3) 10 CGGAGTGCTGCGATGGTTTTT 0.383000 15 32 0 0 1 0 0 PLAC8 51316 broad.mit.edu 37 4 84026117 84026117 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:84026117T>C ENST00000426923.2 - 3 253 c.175A>G c.(175-177)Aat>Gat p.N59D PLAC8_ENST00000311507.4_Missense_Mutation_p.N59D|PLAC8_ENST00000411416.2_Missense_Mutation_p.N59D|PLAC8_ENST00000505406.1_Missense_Mutation_p.N59D|PLAC8_ENST00000509973.1_Missense_Mutation_p.N2D|PLAC8_ENST00000515389.1_Intron NM_001130715.1 NP_001124187.1 Q9NZF1 PLAC8_HUMAN placenta-specific 8 59 large_intestine(2)|lung(3)|ovary(1) 6 Hepatocellular(203;0.114) CAGCATTCATTCATATCAGCT 0.488000 38 67 0 0 1 0 0 OTUD7B 56957 broad.mit.edu 37 1 149949445 149949445 + Translation_Start_Site SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:149949445T>C ENST00000369135.3 - 2 295 c.1A>G c.(1-3)Atg>Gtg p.M1V NM_020205.2 NP_064590.2 Q6GQQ9 OTU7B_HUMAN OTU domain containing 7B 1 negative regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|microtubule cytoskeleton|nucleus cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247) TCCAGGGTCATGTGATCCTCA 0.468000 25 57 0 0 1 0 0 POLD3 10714 broad.mit.edu 37 11 74347277 74347277 + Silent SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:74347277C>A ENST00000263681.2 + 11 1284 c.1155C>A c.(1153-1155)cgC>cgA p.R385R POLD3_ENST00000527458.1_Silent_p.R346R|POLD3_ENST00000532497.1_Silent_p.R279R NM_006591.2 NP_006582.1 Q15054 DPOD3_HUMAN polymerase (DNA-directed), delta 3, accessory subunit 385 base-excision repair|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|mismatch repair|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair delta DNA polymerase complex|nucleoplasm DNA-directed DNA polymerase activity|protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1) 18 Breast(11;3.21e-06) AACGAAAACGCGTACTAAAAT 0.368000 19 36 3.62473e-10 3.7563e-10 1 1 0 PKHD1L1 93035 broad.mit.edu 37 8 110457059 110457059 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:110457059G>A ENST00000378402.5 + 38 5065 c.4961G>A c.(4960-4962)cGa>cAa p.R1654Q NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 1654 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TTTGATAGGCGATTTGTACTT 0.433000 HNSCC(38;0.096) 80 270 0 0 1 0 0 ZNF518A 9849 broad.mit.edu 37 10 97917855 97917855 + RNA SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:97917855T>C ENST00000534948.1 + 0 2633 Q6AHZ1 Z518A_HUMAN zinc finger protein 518A regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2) 24 Colorectal(252;0.0815) Epithelial(162;4.23e-08)|all cancers(201;1.85e-06) AGGTATTAGGTACCACCATTA 0.383000 16 43 0 0 1 0 0 BRAP 8315 broad.mit.edu 37 12 112097135 112097135 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:112097135A>G ENST00000419234.4 - 8 1180 c.987T>C c.(985-987)tgT>tgC p.C329C BRAP_ENST00000539060.1_Silent_p.C150C|BRAP_ENST00000327551.6_Silent_p.C299C NM_006768.3 NP_006759.3 Q7Z569 BRAP_HUMAN BRCA1 associated protein 329 MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction cytoplasm|ubiquitin ligase complex identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 20 CGCATATTAAACAAATCCAAA 0.463000 4 110 0 0 1 0 0 VLDLR 7436 broad.mit.edu 37 9 2648271 2648271 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:2648271T>C ENST00000382100.2 + 13 2242 c.1886T>C c.(1885-1887)tTg>tCg p.L629S VLDLR_ENST00000382099.2_Missense_Mutation_p.L629S NM_003383.3 NP_003374.3 P98155 VLDLR_HUMAN very low density lipoprotein receptor 629 cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 24 GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123) AGCGTGGACTTGAATGGCCAA 0.403000 4 120 0 0 1 0 0 BRD3 8019 broad.mit.edu 37 9 136905384 136905384 + Missense_Mutation SNP G G C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:136905384G>C ENST00000303407.7 - 9 1600 c.1415C>G c.(1414-1416)gCc>gGc p.A472G BRD3_ENST00000371834.2_Missense_Mutation_p.A472G|BRD3_ENST00000357885.2_Missense_Mutation_p.A472G|BRD3_ENST00000473349.1_Intron NM_007371.3 NP_031397.1 Q15059 BRD3_HUMAN bromodomain containing 3 472 nucleus protein binding BRD3/C15orf55(3) kidney(1)|skin(1)|stomach(4) 6 OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07) CTCGTGCACGGCCTTCAGCTG 0.617000 T C15orf55 lethal midline carcinoma of young people 3 14 0 0 1 0 0 PIP5K1C 23396 broad.mit.edu 37 19 3641708 3641708 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:3641708G>A ENST00000335312.3 - 15 1870 c.1782C>T c.(1780-1782)gaC>gaT p.D594D PIP5K1C_ENST00000589578.1_Silent_p.D594D|PIP5K1C_ENST00000539785.1_Silent_p.D594D|PIP5K1C_ENST00000537021.1_Silent_p.D594D NM_001195733.1|NM_012398.2 NP_001182662.1|NP_036530.1 O60331 PI51C_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type I, gamma 594 axon guidance cytosol|plasma membrane 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding large_intestine(3)|ovary(1)|skin(3)|stomach(2) 9 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183) CTCACCCTGCGTCCTCCTCTT 0.652000 16 49 0 0 1 0 0 ENO3 2027 broad.mit.edu 37 17 4859899 4859899 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:4859899G>A ENST00000323997.6 + 10 1231 c.1099G>A c.(1099-1101)Gtg>Atg p.V367M ENO3_ENST00000518175.1_Missense_Mutation_p.V367M|ENO3_ENST00000519584.1_Missense_Mutation_p.V324M NM_001976.4|NM_053013.3 NP_001967.3|NP_443739.3 P13929 ENOB_HUMAN enolase 3 (beta, muscle) 367 gluconeogenesis|glycolysis phosphopyruvate hydratase complex magnesium ion binding|phosphopyruvate hydratase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1) 15 TGGCTGGGGGGTGATGGTGAG 0.562000 47 125 0 0 1 0 0 CPSF3 51692 broad.mit.edu 37 2 9576380 9576380 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:9576380A>G ENST00000460593.1 + 7 1677 c.539A>G c.(538-540)gAg>gGg p.E180G CPSF3_ENST00000238112.3_Missense_Mutation_p.E217G Q9UKF6 CPSF3_HUMAN cleavage and polyadenylation specific factor 3, 73kDa 217 histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex 5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308) all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644) AAACGTGAAGAGCGAGAAGCA 0.433000 35 94 0 0 1 0 0 SBNO2 22904 broad.mit.edu 37 19 1108811 1108811 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:1108811G>A ENST00000361757.3 - 31 3820 c.3583C>T c.(3583-3585)Cgg>Tgg p.R1195W SBNO2_ENST00000587024.1_Missense_Mutation_p.R1185W|SBNO2_ENST00000438103.2_Missense_Mutation_p.R1138W NM_014963.2 NP_055778.2 Q9Y2G9 SBNO2_HUMAN strawberry notch homolog 2 (Drosophila) 1195 macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 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) GTCTTCAGCCGCACGATCTGC 0.716000 9 20 0 0 1 0 0 LRRC2 79442 broad.mit.edu 37 3 46574323 46574323 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:46574323A>G ENST00000395905.3 - 5 959 c.567T>C c.(565-567)tgT>tgC p.C189C LRRC2_ENST00000296144.3_Silent_p.C189C NM_024512.4 NP_078788.2 Q9BYS8 LRRC2_HUMAN leucine rich repeat containing 2 189 breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1) 17 Ovarian(412;0.0563) OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254) CTAGATTTTCACAATCTCCCA 0.368000 19 79 0 0 1 0 0 FAM86C1 55199 broad.mit.edu 37 11 71507071 71507071 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:71507071T>C ENST00000359244.4 + 4 293 c.270T>C c.(268-270)tgT>tgC p.C90C FAM86C1_ENST00000426628.2_Silent_p.C83C|FAM86C1_ENST00000528685.1_Silent_p.C56C|FAM86C1_ENST00000346333.6_Silent_p.C56C NM_018172.2 NP_060642.2 Q9NVL1 FA86C_HUMAN family with sequence similarity 86, member C1 90 lung(1) 1 AGACGTGCTGTATTGCCCAGA 0.617000 30 99 0 0 1 0 0 CYP4F8 11283 broad.mit.edu 37 19 15739180 15739180 + RNA SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:15739180T>C ENST00000441682.2 + 0 1245 P98187 CP4F8_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 8 prostaglandin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1) 26 CATCCCCCAATCCCTACATTC 0.622000 31 125 0 0 1 0 0 PLA2G6 8398 broad.mit.edu 37 22 38512091 38512091 + Missense_Mutation SNP G G C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr22:38512091G>C ENST00000332509.3 - 13 2053 c.1870C>G c.(1870-1872)Cag>Gag p.Q624E PLA2G6_ENST00000335539.3_Missense_Mutation_p.Q570E|PLA2G6_ENST00000402064.1_Missense_Mutation_p.Q570E NM_003560.2 NP_003551.2 O60733 PA2G6_HUMAN phospholipase A2, group VI (cytosolic, calcium-independent) 624 cardiolipin biosynthetic process|cell death|lipid catabolic process centrosome|membrane breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 24 Melanoma(58;0.045) Quinacrine(DB01103) CCTGAGGGCTGAGCTGGAGGC 0.592000 21 62 0 0 1 0 0 LRIG1 26018 broad.mit.edu 37 3 66463372 66463372 + Missense_Mutation SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:66463372C>A ENST00000383703.3 - 6 1317 c.714G>T c.(712-714)gaG>gaT p.E238D LRIG1_ENST00000273261.3_Missense_Mutation_p.E238D Q96JA1 LRIG1_HUMAN leucine-rich repeats and immunoglobulin-like domains 1 238 integral to membrane NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1) 42 Lung NSC(201;0.0101) BRCA - Breast invasive adenocarcinoma(55;0.00047) GCTTCAGCACCTCCAAGCTGT 0.542000 8 43 1.06961e-07 1.09985e-07 1 1 0 C15orf39 56905 broad.mit.edu 37 15 75501025 75501025 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:75501025C>T ENST00000360639.2 + 2 2956 c.2636C>T c.(2635-2637)tCg>tTg p.S879L C15orf39_ENST00000567617.1_Missense_Mutation_p.S879L|C15orf39_ENST00000394987.4_Missense_Mutation_p.S879L Q6ZRI6 CO039_HUMAN chromosome 15 open reading frame 39 879 autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 16 ACCACGCTGTCGGAGGAGCGG 0.657000 6 16 0 0 1 0 0 SRCAP 10847 broad.mit.edu 37 16 30732158 30732158 + Missense_Mutation SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:30732158C>A ENST00000262518.4 + 20 3497 c.3112C>A c.(3112-3114)Cct>Act p.P1038T SRCAP_ENST00000395059.2_Missense_Mutation_p.P1038T|SRCAP_ENST00000344771.4_Missense_Mutation_p.P1038T NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 1038 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) CCAGCCCACCCCTGGCCCAGT 0.667000 31 138 2.08457e-15 2.18432e-15 1 1 0 MUC13 56667 broad.mit.edu 37 3 124641065 124641065 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:124641065C>T ENST00000311075.3 - 4 758 c.720G>A c.(718-720)ttG>ttA p.L240L NM_033049.3 NP_149038.3 Q9H3R2 MUC13_HUMAN mucin 13, cell surface associated 240 SEA. extracellular region|integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1) 18 TTTCACTATGCAAGTCTTGAT 0.393000 14 49 0 0 1 0 0 ANKRD11 29123 broad.mit.edu 37 16 89348957 89348957 + Silent SNP G G A rs141054850 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:89348957G>A ENST00000301030.4 - 9 4453 c.3993C>T c.(3991-3993)gaC>gaT p.D1331D ANKRD11_ENST00000378330.2_Silent_p.D1331D NM_001256183.1|NM_013275.5 NP_001243112.1|NP_037407.4 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 1331 Lys-rich. nucleus breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) TCGGCTTGTCGTCTCCAGGTG 0.592000 17 52 0 0 1 0 0 NBAS 51594 broad.mit.edu 37 2 15696932 15696932 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:15696932A>G ENST00000281513.5 - 3 209 c.184T>C c.(184-186)Ttt>Ctt p.F62L NBAS_ENST00000441750.1_Missense_Mutation_p.F62L NM_015909.3 NP_056993.2 A2RRP1 NBAS_HUMAN neuroblastoma amplified sequence 62 NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3) 112 TGGCGTAAAAATAATAAACGA 0.274000 14 55 0 0 1 0 0 QTRTD1 79691 broad.mit.edu 37 3 113804627 113804627 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:113804627C>T ENST00000281273.4 + 10 1381 c.1124C>T c.(1123-1125)gCc>gTc p.A375V QTRTD1_ENST00000493014.1_Missense_Mutation_p.A269V|QTRTD1_ENST00000485050.1_Missense_Mutation_p.A387V|QTRTD1_ENST00000479882.1_Missense_Mutation_p.A252V NM_024638.3 NP_078914.1 Q9H974 QTRD1_HUMAN queuine tRNA-ribosyltransferase domain containing 1 375 queuosine biosynthetic process mitochondrion metal ion binding|queuine tRNA-ribosyltransferase activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|skin(2) 10 GAGCTGCTGGCCGGAGTCCTG 0.478000 54 148 0 0 1 0 0 SH3BP2 6452 broad.mit.edu 37 4 2831230 2831230 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:2831230G>A ENST00000442312.2 + 8 860 c.681G>A c.(679-681)atG>atA p.M227I SH3BP2_ENST00000511747.1_Missense_Mutation_p.M199I|SH3BP2_ENST00000435136.2_Missense_Mutation_p.M199I|SH3BP2_ENST00000515183.1_3'UTR|SH3BP2_ENST00000503393.2_Missense_Mutation_p.M256I|SH3BP2_ENST00000356331.5_Missense_Mutation_p.M199I|SH3BP2_ENST00000452765.2_Missense_Mutation_p.M199I NM_001145855.1 NP_001139327.1 P78314 3BP2_HUMAN SH3-domain binding protein 2 199 signal transduction SH3 domain binding|SH3/SH2 adaptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 20 UCEC - Uterine corpus endometrioid carcinoma (64;0.164) ATGCCCTGATGCACCCACCGG 0.647000 Cherubism 40 115 0 0 1 0 0 LOC148709 148709 broad.mit.edu 37 1 202842810 202842810 + RNA SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:202842810G>A ENST00000456105.2 + 0 762 NR_002929.2 CCCCAGCAAGGTACACAGCCA 0.577000 21 76 0 0 1 0 0 MTRR 4552 broad.mit.edu 37 5 7869267 7869267 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:7869267C>T ENST00000264668.2 + 1 51 c.21C>T c.(19-21)cgC>cgT p.R7R MTRR_ENST00000502509.1_Intron|MTRR_ENST00000341013.6_5'UTR NM_002454.2|NM_024010.2 NP_002445.2|NP_076915.2 Q9UBK8 MTRR_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase reductase 7 methionine biosynthetic process cytosol [methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1) 31 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134) CGTCAGTGCGCGCTGGCGCAA 0.672000 35 172 0 0 1 0 0 COL16A1 1307 broad.mit.edu 37 1 32163578 32163578 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:32163578G>A ENST00000373672.3 - 6 1102 c.586C>T c.(586-588)Ccc>Tcc p.P196S COL16A1_ENST00000373668.3_Missense_Mutation_p.P196S|COL16A1_ENST00000271069.6_Missense_Mutation_p.P196S NM_001856.3 NP_001847.3 Q07092 COGA1_HUMAN collagen, type XVI, alpha 1 196 TSP N-terminal. cell adhesion|female pregnancy|integrin-mediated signaling pathway collagen type XVI integrin binding|structural molecule activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4) 48 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116) STAD - Stomach adenocarcinoma(196;0.059) GGTCGTCGGGGCCCCAGAGGC 0.622000 16 65 0 0 1 0 0 ATP6V1B1 525 broad.mit.edu 37 2 71163099 71163099 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:71163099A>G ENST00000234396.4 + 1 88 c.15A>G c.(13-15)atA>atG p.I5M ATP6V1B1_ENST00000412314.1_Missense_Mutation_p.I5M NM_001692.3 NP_001683.2 P15313 VATB1_HUMAN ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 5 ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1) 19 CCATGGAGATAGACAGCAGGC 0.637000 21 50 0 0 1 0 0 NTRK2 4915 broad.mit.edu 37 9 87636213 87636213 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:87636213C>T ENST00000376214.1 + 21 3316 c.2378C>T c.(2377-2379)aCg>aTg p.T793M NTRK2_ENST00000277120.3_Missense_Mutation_p.T793M|NTRK2_ENST00000323115.4_Missense_Mutation_p.T777M|NTRK2_ENST00000376213.1_Missense_Mutation_p.T777M NM_006180.3 NP_006171.2 Q16620 NTRK2_HUMAN neurotrophic tyrosine kinase, receptor, type 2 777 Protein kinase. activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 46 CGACCCCGCACGTGCCCCCAG 0.552000 TSP Lung(25;0.17) 18 50 0 0 1 0 0 KNDC1 85442 broad.mit.edu 37 10 135038213 135038213 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:135038213A>G ENST00000304613.3 + 30 5090 c.5069A>G c.(5068-5070)tAc>tGc p.Y1690C KNDC1_ENST00000368572.2_Missense_Mutation_p.Y1692C Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) containing 1 1690 Ras-GEF. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 60 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) GAGAACCCTTACACCTTCAGC 0.602000 9 52 0 0 1 0 0 CXCL17 284340 broad.mit.edu 37 19 42933037 42933037 + Nonstop_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:42933037T>C ENST00000601181.1 - 4 574 c.359A>G c.(358-360)tAg>tGg p.*120W LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000593740.2_RNA NM_198477.1 NP_940879.1 Q6UXB2 VCC1_HUMAN chemokine (C-X-C motif) ligand 17 0 angiogenesis|cell differentiation|chemotaxis extracellular region large_intestine(2)|skin(1) 3 Prostate(69;0.00899) TCAGAGCTCCTACAAAGGCAG 0.493000 86 304 0 0 1 0 0 TRIM67 440730 broad.mit.edu 37 1 231298757 231298757 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:231298757T>C ENST00000444294.3 + 1 900 c.42T>C c.(40-42)ttT>ttC p.F14F TRIM67_ENST00000366652.2_Silent_p.F14F|TRIM67_ENST00000366653.5_Silent_p.F14F|TRIM67_ENST00000449018.3_Silent_p.F14F NM_001004342.3 NP_001004342.3 Q6ZTA4 TRI67_HUMAN tripartite motif containing 67 14 cytoplasm|cytoskeleton zinc ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 Breast(184;0.0871) all_cancers(173;0.189)|Prostate(94;0.167) GCTCTCTGTTTCGGGAGCCTA 0.667000 8 25 0 0 1 0 0 BHLHB9 80823 broad.mit.edu 37 X 102005445 102005445 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chrX:102005445G>A ENST00000372735.1 + 4 2107 c.1522G>A c.(1522-1524)Gcc>Acc p.A508T BHLHB9_ENST00000457056.1_Missense_Mutation_p.A508T|BHLHB9_ENST00000361229.4_Missense_Mutation_p.A508T|BHLHB9_ENST00000447531.1_Missense_Mutation_p.A508T|BHLHB9_ENST00000448867.1_Missense_Mutation_p.A508T Q6PI77 BHLH9_HUMAN basic helix-loop-helix domain containing, class B, 9 508 cytoplasm|nucleus binding cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 TAGTGGTGTGGCCATATTTAT 0.378000 4 103 0 0 1 0 0 TBC1D7 51256 broad.mit.edu 37 6 13307955 13307955 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:13307955A>G ENST00000607658.1 - 5 611 c.461T>C c.(460-462)tTg>tCg p.L154S TBC1D7_ENST00000356436.4_Missense_Mutation_p.L181S|TBC1D7_ENST00000379307.2_Missense_Mutation_p.L154S|TBC1D7_ENST00000379300.3_Missense_Mutation_p.L181S|TBC1D7_ENST00000343141.4_Missense_Mutation_p.L135S|TBC1D7_ENST00000607532.1_5'UTR Q9P0N9 TBCD7_HUMAN TBC1 domain family, member 7 181 Rab-GAP TBC. positive regulation of protein ubiquitination cytoplasmic membrane-bounded vesicle protein binding|Rab GTPase activator activity breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1) 22 Breast(50;0.0296)|Ovarian(93;0.0339) all_hematologic(90;0.135) Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21) TTCCAGATTCAAGTATTGTTC 0.408000 12 61 0 0 1 0 0 LAT2 7462 broad.mit.edu 37 7 73638350 73638350 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:73638350G>A ENST00000460943.1 + 12 1340 c.451G>A c.(451-453)Gcc>Acc p.A151T LAT2_ENST00000344995.5_Missense_Mutation_p.A151T|LAT2_ENST00000275635.7_Missense_Mutation_p.A151T|LAT2_ENST00000398475.1_Missense_Mutation_p.A151T NM_032464.2 NP_115853.2 Q9GZY6 NTAL_HUMAN linker for activation of T cells family, member 2 151 B cell activation|B cell receptor signaling pathway|calcium-mediated signaling|mast cell degranulation integral to membrane|intracellular|membrane raft|plasma membrane SH2 domain binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1) 6 CTCTGCAGGTGCCCAGCAGGA 0.637000 9 21 0 0 1 0 0 DENND5B 160518 broad.mit.edu 37 12 31600487 31600487 + Missense_Mutation SNP T T A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:31600487T>A ENST00000389082.5 - 6 2110 c.1846A>T c.(1846-1848)Act>Tct p.T616S DENND5B_ENST00000354285.4_Missense_Mutation_p.T638S|DENND5B_ENST00000306833.6_Missense_Mutation_p.T651S|DENND5B_ENST00000536562.1_Missense_Mutation_p.T651S NM_144973.3 NP_659410.3 Q6ZUT9 DEN5B_HUMAN DENN/MADD domain containing 5B 616 integral to membrane NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 TCTTTTAAAGTGCTGCATTTC 0.378000 7 37 0 0 1 0 0 UTP20 27340 broad.mit.edu 37 12 101750762 101750762 + Missense_Mutation SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:101750762G>T ENST00000261637.4 + 43 5767 c.5593G>T c.(5593-5595)Gca>Tca p.A1865S NM_014503.2 NP_055318.2 O75691 UTP20_HUMAN UTP20, small subunit (SSU) processome component, homolog (yeast) 1865 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 CAGAGACATTGCACGCAGCAC 0.388000 15 78 2.32078e-09 2.39896e-09 1 1 0 MBP 4155 broad.mit.edu 37 18 74728931 74728931 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr18:74728931C>T ENST00000397860.3 - 4 647 c.433G>A c.(433-435)Gga>Aga p.G145R MBP_ENST00000355994.2_Missense_Mutation_p.G145R|MBP_ENST00000578193.1_Missense_Mutation_p.G12R|MBP_ENST00000528160.1_Missense_Mutation_p.G12R|MBP_ENST00000580402.1_Missense_Mutation_p.G145R|MBP_ENST00000354542.4_Missense_Mutation_p.G12R|MBP_ENST00000359645.3_Missense_Mutation_p.G12R|MBP_ENST00000526111.1_Intron|MBP_ENST00000397869.3_Missense_Mutation_p.G12R|MBP_ENST00000397866.4_Missense_Mutation_p.G12R|MBP_ENST00000397865.5_Missense_Mutation_p.G12R|MBP_ENST00000397863.1_Missense_Mutation_p.G145R|MBP_ENST00000382582.3_Missense_Mutation_p.G12R|MBP_ENST00000579129.1_Missense_Mutation_p.G145R|MBP_ENST00000397875.3_Missense_Mutation_p.G12R|MBP_ENST00000527041.1_Missense_Mutation_p.G12R NM_001025100.1 NP_001020271.1 P02686 MBP_HUMAN myelin basic protein 145 central nervous system development|immune response|synaptic transmission plasma membrane structural constituent of myelin sheath endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 19 Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211) OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188) TACTTGGATCCGTGCCTCTGG 0.597000 37 67 0 0 1 0 0 EGFR 1956 broad.mit.edu 37 7 55238214 55238214 + Missense_Mutation SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:55238214A>T ENST00000344576.2 + 16 2340 c.2095A>T c.(2095-2097)Atc>Ttc p.I699F EGFR_ENST00000275493.2_Intron|EGFR_ENST00000454757.2_Intron|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Intron NM_201284.1 NP_958441.1 P00533 EGFR_HUMAN epidermal growth factor receptor 0 Important for dimerization, phosphorylation and activation. activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) ATCTGTGATCATCACGGCCTC 0.597000 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 39 100 0 0 1 0 0 TNC 3371 broad.mit.edu 37 9 117849399 117849399 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:117849399T>C ENST00000350763.4 - 3 1022 c.611A>G c.(610-612)cAg>cGg p.Q204R TNC_ENST00000341037.4_Missense_Mutation_p.Q204R|TNC_ENST00000340094.3_Missense_Mutation_p.Q204R|TNC_ENST00000537320.1_Missense_Mutation_p.Q204R|TNC_ENST00000535648.1_Missense_Mutation_p.Q204R|TNC_ENST00000542877.1_Missense_Mutation_p.Q204R|TNC_ENST00000423613.2_Missense_Mutation_p.Q204R|TNC_ENST00000345230.3_Missense_Mutation_p.Q204R|TNC_ENST00000346706.3_Missense_Mutation_p.Q204R NM_002160.3 NP_002151.2 P24821 TENA_HUMAN tenascin C 204 EGF-like 2. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 120 ACAGATGCACTGCCCATCAAT 0.607000 38 108 0 0 1 0 0 ACACB 32 broad.mit.edu 37 12 109629715 109629715 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:109629715T>C ENST00000338432.7 + 15 2478 c.2359T>C c.(2359-2361)Ttc>Ctc p.F787L ACACB_ENST00000377848.3_Missense_Mutation_p.F787L|ACACB_ENST00000377854.5_Missense_Mutation_p.F787L O00763 ACACB_HUMAN acetyl-CoA carboxylase beta 787 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 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) CGATGCGATGTTCAGAACGTG 0.527000 4 114 0 0 1 0 0 ATP11B 23200 broad.mit.edu 37 3 182631660 182631660 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:182631660A>G ENST00000323116.5 + 29 3590 c.3330A>G c.(3328-3330)acA>acG p.T1110T NM_014616.2 NP_055431.1 Q9Y2G3 AT11B_HUMAN ATPase, class VI, type 11B 1110 aminophospholipid transport|ATP biosynthetic process integral to membrane|nuclear inner membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1) 41 all_cancers(143;9.04e-15)|Ovarian(172;0.0355) all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20) TTACTGAAACAAATGCAGGTA 0.423000 133 350 0 0 1 0 0 PDZRN4 29951 broad.mit.edu 37 12 41957354 41957354 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:41957354A>G ENST00000298919.7 + 8 978 c.590A>G c.(589-591)aAt>aGt p.N197S PDZRN4_ENST00000539469.2_Missense_Mutation_p.N199S|PDZRN4_ENST00000402685.2_Missense_Mutation_p.N457S Q6ZMN7 PZRN4_HUMAN PDZ domain containing ring finger 4 457 ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 77 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) TTCTAGATAAATGGGGAAGAT 0.418000 5 62 0 0 1 0 0 IGHV1-46 28465 broad.mit.edu 37 14 106967567 106967567 + RNA SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:106967567T>C ENST00000390622.2 - 0 221 GATGTATCCATATTTACCTCA 0.433000 13 21 0 0 1 0 0 PCDHA5 56143 broad.mit.edu 37 5 140203059 140203059 + Missense_Mutation SNP C C T rs17844296 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:140203059C>T ENST00000529859.1 + 1 1699 c.1699C>T c.(1699-1701)Cct>Tct p.P567S PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.P567S|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.P567S|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron NM_018908.2 NP_061731.1 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTGCTGGTGCCTCGAGTGGG 0.716000 15 233 0 0 1 0 0 CCDC78 124093 broad.mit.edu 37 16 774151 774151 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:774151T>C ENST00000293889.6 - 10 1113 c.1008A>G c.(1006-1008)ccA>ccG p.P336P NM_001031737.2 NP_001026907.2 A2IDD5 CCD78_HUMAN coiled-coil domain containing 78 336 central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(2)|skin(3) 9 Hepatocellular(780;0.0218) GCACGGGCAATGGTTCCAGGT 0.627000 32 68 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49415624 49415624 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:49415624T>C ENST00000301067.7 - 54 16552 c.16553A>G c.(16552-16554)gAc>gGc p.D5518G NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D GTGCTGATCGTCCTCAAAATC 0.507000 24 103 0 0 1 0 0 SORBS2 8470 broad.mit.edu 37 4 186545479 186545479 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:186545479G>A ENST00000431808.1 - 14 1655 c.1092C>T c.(1090-1092)aaC>aaT p.N364N SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000418609.1_Silent_p.N268N|SORBS2_ENST00000284776.7_Silent_p.N364N|SORBS2_ENST00000355634.5_Silent_p.N464N|SORBS2_ENST00000449407.2_Intron O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 364 actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1) 53 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) AGATTTCTGCGTTTTGCCGGG 0.517000 13 55 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149523280 149523280 + RNA SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:149523280G>A ENST00000378016.2 + 0 14366 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GAGCGACATCGGACTTGTGAG 0.657000 17 61 0 0 1 0 0 TNRC18 84629 broad.mit.edu 37 7 5427892 5427892 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:5427892C>T ENST00000399537.4 - 5 1911 c.1563G>A c.(1561-1563)acG>acA p.T521T TNRC18_ENST00000430969.1_Silent_p.T521T O15417 TNC18_HUMAN trinucleotide repeat containing 18 521 DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8) 11 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) CGGCCATCTGCGTGGCGGCGA 0.701000 6 27 0 0 1 0 0 FOXQ1 94234 broad.mit.edu 37 6 1313539 1313539 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:1313539C>T ENST00000296839.2 + 1 865 c.600C>T c.(598-600)agC>agT p.S200S NM_033260.3 NP_150285.3 Q9C009 FOXQ1_HUMAN forkhead box Q1 200 DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding lung(1)|urinary_tract(1) 2 Ovarian(93;0.0733) Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18) ACCCCAACAGCGAGTACACCT 0.716000 19 55 0 0 1 0 0 TAF6 6878 broad.mit.edu 37 7 99711975 99711975 + Missense_Mutation SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:99711975G>T ENST00000472509.1 - 1 206 c.29C>A c.(28-30)cCc>cAc p.P10H TAF6_ENST00000453269.2_Intron|TAF6_ENST00000452041.1_Intron|TAF6_ENST00000437822.2_Intron|TAF6_ENST00000344095.4_Intron|TAF6_ENST00000418432.2_Intron|TAF6_ENST00000497233.1_Intron P49848 TAF6_HUMAN TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa 0 negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2) 26 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GTGGAGACAGGGGAGGAACTC 0.567000 5 6 0.000602214 0.000609374 1 1 0 TRIO 7204 broad.mit.edu 37 5 14487613 14487613 + Silent SNP G G C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:14487613G>C ENST00000344204.4 + 48 6900 c.6876G>C c.(6874-6876)ggG>ggC p.G2292G TRIO_ENST00000537187.1_Silent_p.G2292G NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor 2292 Poly-Gly. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) ACCACAgcgggggcggcggcg 0.756000 9 24 0 0 1 0 0 PHF2 5253 broad.mit.edu 37 9 96437210 96437210 + Splice_Site SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:96437210T>C ENST00000359246.4 + 19 2995 c.2626_splice c.e19-1 p.V876_splice PHF2_ENST00000375376.4_Splice_Site_p.V107_splice NM_005392.3 NP_005383.3 O75151 PHF2_HUMAN PHD finger protein 2 876 liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;9.11e-28) TCCCTCTAGTTTACCCCTCAC 0.612000 24 79 0 0 1 0 0 RXRA 6256 broad.mit.edu 37 9 137328392 137328392 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:137328392C>T ENST00000540193.1 + 9 1953 c.1030C>T c.(1030-1032)Ctc>Ttc p.L344F RXRA_ENST00000481739.1_Missense_Mutation_p.L441F|RXRA_ENST00000356384.4_3'UTR P19793 RXRA_HUMAN retinoid X receptor, alpha 441 Ligand-binding. cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process nuclear chromatin|nucleoplasm enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926) CTTCTTCAAGCTCATCGGGGA 0.587000 7 144 0 0 1 0 0 KCND2 3751 broad.mit.edu 37 7 119915701 119915701 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:119915701G>A ENST00000331113.4 + 1 1980 c.1015G>A c.(1015-1017)Gct>Act p.A339T NM_012281.2 NP_036413.1 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 2 339 regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 75 all_neural(327;0.117) CATCATCTTCGCTACAGTTAT 0.517000 27 89 0 0 1 0 0 AGAP11 119385 broad.mit.edu 37 10 88753124 88753124 + RNA SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:88753124A>G ENST00000444431.1 + 0 70 RP11-96C23.5_ENST00000433214.2_RNA Q8TF27 AGA11_HUMAN ankyrin repeat and GTPase domain Arf GTPase activating protein 11 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding AATAGGACTCAGGATTTGAAG 0.348000 20 56 0 0 1 0 0 KMT2B 9757 broad.mit.edu 37 19 36221448 36221448 + Missense_Mutation SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:36221448G>T ENST00000420124.1 + 25 5207 c.5207G>T c.(5206-5208)cGc>cTc p.R1736L KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000222270.7_Missense_Mutation_p.R1736L GGTTCCATCCGCATTGACTCC 0.612000 6 553 3.59834e-05 3.66827e-05 1 1 0 BOD1L1 259282 broad.mit.edu 37 4 13578511 13578511 + Missense_Mutation SNP C C T rs140860052 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:13578511C>T ENST00000040738.5 - 25 9124 c.8989G>A c.(8989-8991)Gag>Aag p.E2997K NM_148894.2 NP_683692.2 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1-like 1 2997 Poly-Glu. DNA binding CCTGAAGGctcgtcctcttcc 0.527000 8 173 0 0 1 0 0 CELSR1 9620 broad.mit.edu 37 22 46931225 46931225 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr22:46931225C>T ENST00000262738.3 - 1 1842 c.1843G>A c.(1843-1845)Ggc>Agc p.G615S CELSR1_ENST00000395964.1_Missense_Mutation_p.G615S NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 615 Cadherin 4. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) CCAGCGCTGCCGCCCCCCAGA 0.652000 9 57 0 0 1 0 0 VIPR2 7434 broad.mit.edu 37 7 158829514 158829514 + Missense_Mutation SNP T T G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:158829514T>G ENST00000262178.2 - 7 862 c.677A>C c.(676-678)tAc>tCc p.Y226S VIPR2_ENST00000377633.3_Missense_Mutation_p.Y210S|VIPR2_ENST00000402066.1_Missense_Mutation_p.Y367S NM_003382.4 NP_003373.2 P41587 VIPR2_HUMAN vasoactive intestinal peptide receptor 2 226 cell-cell signaling integral to plasma membrane central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 22 Ovarian(565;0.152) all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603) OV - Ovarian serous cystadenocarcinoma(82;0.00231) UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18) GGTGTGGAGGTAGAGCCCCTC 0.602000 5 57 0 0 1 0 0 HSF1 3297 broad.mit.edu 37 8 145533482 145533482 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:145533482A>G ENST00000528838.1 + 4 548 c.388A>G c.(388-390)Ata>Gta p.I130V HSF1_ENST00000400780.4_Missense_Mutation_p.I65V NM_005526.2 NP_005517.1 Q00613 HSF1_HUMAN heat shock transcription factor 1 130 Hydrophobic repeat HR-A/B. cytoplasm protein binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2) 11 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055) GAGTGAAGACATAAAGATCCG 0.592000 10 137 0 0 1 0 0 NPY5R 4889 broad.mit.edu 37 4 164271697 164271697 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:164271697T>C ENST00000515560.1 + 4 1794 c.272T>C c.(271-273)gTg>gCg p.V91A NPY5R_ENST00000338566.3_Missense_Mutation_p.V91A|NPY5R_ENST00000506953.1_Missense_Mutation_p.V91A Q15761 NPY5R_HUMAN neuropeptide Y receptor Y5 91 cardiac left ventricle morphogenesis|outflow tract morphogenesis integral to plasma membrane NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_hematologic(180;0.166) Prostate(90;0.109) ATCTTGGTTGTGCTGTTTTGC 0.413000 65 225 0 0 1 0 0 CLVS2 134829 broad.mit.edu 37 6 123318930 123318930 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:123318930A>G ENST00000275162.4 + 2 1343 c.8A>G c.(7-9)cAt>cGt p.H3R CLVS2_ENST00000368438.1_Intron NM_001010852.2 NP_001010852.2 Q5SYC1 CLVS2_HUMAN clavesin 2 3 lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 40 ACAATGACTCATTTGCAAGCC 0.557000 21 62 0 0 1 0 0 SCN8A 6334 broad.mit.edu 37 12 52159635 52159635 + Missense_Mutation SNP A A C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:52159635A>C ENST00000354534.5 + 16 2903 c.2725A>C c.(2725-2727)Aac>Cac p.N909H SCN8A_ENST00000545061.1_Missense_Mutation_p.N909H|SCN8A_ENST00000550891.1_Missense_Mutation_p.N909H NM_001177984.2|NM_014191.3 NP_001171455.1|NP_055006.1 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha subunit 909 axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) CTGCAAGATCAACCAGGACTG 0.493000 4 191 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593025 96593025 + Missense_Mutation SNP C C T rs75189823 by1000genomes TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:96593025C>T ENST00000456556.1 - 28 1960 c.1876G>A c.(1876-1878)Gat>Aat p.D626N ankyrin repeat domain 36C p.D626N(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 TCTTTCTCATCACTTGTAGCC 0.318000 4 75 0 0 1 0 0 ELMSAN1 91748 broad.mit.edu 37 14 74206218 74206218 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:74206218A>G ENST00000286523.5 - 2 1276 c.494T>C c.(493-495)cTg>cCg p.L165P ELMSAN1_ENST00000394071.2_Missense_Mutation_p.L165P NM_194278.3 NP_919254.2 ELM2 and Myb/SANT-like domain containing 1 CTCCCGCTTCAGTGCCTCAGG 0.617000 39 161 0 0 1 0 0 LIN7A 8825 broad.mit.edu 37 12 81205381 81205381 + Missense_Mutation SNP T T A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:81205381T>A ENST00000552864.1 - 5 767 c.565A>T c.(565-567)Acc>Tcc p.T189S NM_004664.2 NP_004655.1 O14910 LIN7A_HUMAN lin-7 homolog A (C. elegans) 189 PDZ. exocytosis|protein complex assembly|protein transport basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction L27 domain binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2) 15 ACTTTTGGGGTGTATCGCACC 0.493000 7 70 0 0 1 0 0 ALDH1A2 8854 broad.mit.edu 37 15 58256134 58256134 + Missense_Mutation SNP C C G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:58256134C>G ENST00000249750.4 - 9 1802 c.1035G>C c.(1033-1035)aaG>aaC p.K345N ALDH1A2_ENST00000537372.1_Missense_Mutation_p.K324N|ALDH1A2_ENST00000347587.3_Missense_Mutation_p.K307N|ALDH1A2_ENST00000558231.1_Missense_Mutation_p.K316N|ALDH1A2_ENST00000559517.1_Missense_Mutation_p.K249N NM_003888.3 NP_003879.2 O94788 AL1A2_HUMAN aldehyde dehydrogenase 1 family, member A2 345 negative regulation of cell proliferation|neural tube development|response to cytokine stimulus nucleus 3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18) NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162) CTACGCGCCTCTTGGCCCGCT 0.522000 22 110 0 0 1 0 0 TNS3 64759 broad.mit.edu 37 7 47408411 47408411 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:47408411A>G ENST00000398879.1 - 17 2198 c.1832T>C c.(1831-1833)cTg>cCg p.L611P TNS3_ENST00000311160.9_Missense_Mutation_p.L611P|TNS3_ENST00000355730.3_Missense_Mutation_p.L371P Q68CZ2 TENS3_HUMAN tensin 3 611 focal adhesion protein binding NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 64 GCGGCTCACCAGCCGGGCCTC 0.657000 4 107 0 0 1 0 0 RPL32P3 132241 broad.mit.edu 37 3 129116038 129116038 + RNA SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:129116038C>T ENST00000514355.1 - 0 412 lung(1) 1 GAGGCTTTCCCGCCCAGGGAC 0.567000 7 211 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77767872 77767872 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:77767872G>A ENST00000521891.2 + 10 9163 c.8715G>A c.(8713-8715)gcG>gcA p.A2905A ZFHX4_ENST00000518282.1_Silent_p.A2879A|ZFHX4_ENST00000455469.2_Silent_p.A2860A|ZFHX4_ENST00000050961.6_Silent_p.A2860A NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2860 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) CCAGCATAGCGGACCCGAGCT 0.507000 HNSCC(33;0.089) 36 66 0 0 1 0 0 SLC26A2 1836 broad.mit.edu 37 5 149360191 149360191 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:149360191A>G ENST00000286298.4 + 3 1303 c.1035A>G c.(1033-1035)ttA>ttG p.L345L NM_000112.3 NP_000103.2 P50443 S26A2_HUMAN solute carrier family 26 (anion exchanger), member 2 345 integral to plasma membrane|membrane fraction secondary active sulfate transmembrane transporter activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1) 18 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) CAGCCACATTAGCCTCTCATT 0.383000 4 92 0 0 1 0 0 C11orf84 144097 broad.mit.edu 37 11 63581183 63581183 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:63581183G>A ENST00000294244.4 + 1 324 c.25G>A c.(25-27)Gca>Aca p.A9T NM_138471.1 NP_612480.1 Q9BUA3 CK084_HUMAN chromosome 11 open reading frame 84 9 endometrium(3)|kidney(1)|lung(3)|skin(1) 8 CGAGGGCGCCGCACTCGACTG 0.701000 3 14 0 0 1 0 0 SLC16A9 220963 broad.mit.edu 37 10 61412691 61412691 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:61412691T>C ENST00000395348.3 - 6 2005 c.1369A>G c.(1369-1371)Acc>Gcc p.T457A SLC16A9_ENST00000395347.1_Missense_Mutation_p.T457A NM_194298.2 NP_919274.1 Q7RTY1 MOT9_HUMAN solute carrier family 16, member 9 457 urate metabolic process integral to membrane|plasma membrane symporter activity kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 23 TAGGTCTGGGTCCAGTCATAA 0.398000 9 86 0 0 1 0 0 PPM1B 5495 broad.mit.edu 37 2 44428821 44428821 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:44428821A>G ENST00000378551.2 + 2 895 c.483A>G c.(481-483)caA>caG p.Q161Q PPM1B_ENST00000409432.3_Silent_p.Q161Q|PPM1B_ENST00000409895.4_Silent_p.Q161Q|PPM1B_ENST00000345249.4_Intron|PPM1B_ENST00000282412.4_Silent_p.Q161Q|PPM1B_ENST00000378540.4_3'UTR NM_177968.2 NP_808907.1 O75688 PPM1B_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1B 161 protein dephosphorylation protein serine/threonine phosphatase complex magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity kidney(4)|large_intestine(3)|lung(7)|skin(2) 16 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) GGAATGGACAAGTCTGCTTTT 0.438000 40 104 0 0 1 0 0 SMG6 23293 broad.mit.edu 37 17 2090120 2090120 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:2090120G>A ENST00000544865.1 - 12 3409 c.2899C>T c.(2899-2901)Ctg>Ttg p.L967L SMG6_ENST00000536871.2_Silent_p.L90L|SMG6_ENST00000263073.5_Silent_p.L998L|SMG6_ENST00000354901.4_Silent_p.L90L Q86US8 EST1A_HUMAN SMG6 nonsense mediated mRNA decay factor 998 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GGAGAGGACAGCTGAGCTGCA 0.597000 7 35 0 0 1 0 0 ADCY4 196883 broad.mit.edu 37 14 24791326 24791326 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:24791326G>A ENST00000310677.4 - 21 2645 c.2532C>T c.(2530-2532)aaC>aaT p.N844N ADCY4_ENST00000418030.2_Silent_p.N844N|ADCY4_ENST00000554068.2_Silent_p.N844N NM_001198568.1|NM_001198592.1|NM_139247.3 NP_001185497.1|NP_001185521.1|NP_640340.2 Q8NFM4 ADCY4_HUMAN adenylate cyclase 4 844 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding|protein binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(265;0.0192) CAGGGAGCACGTTCTCCAAGA 0.612000 5 190 0 0 1 0 0 TBX4 9496 broad.mit.edu 37 17 59544957 59544957 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:59544957G>A ENST00000393853.4 + 5 651 c.488G>A c.(487-489)cGg>cAg p.R163Q TBX4_ENST00000240335.1_Missense_Mutation_p.R163Q P57082 TBX4_HUMAN T-box 4 163 leg morphogenesis|skeletal system morphogenesis nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 CACTGGATGCGGCAGCTGGTC 0.612000 27 73 0 0 1 0 0 B3GALT1 8708 broad.mit.edu 37 2 168726367 168726367 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:168726367G>A ENST00000305861.1 + 2 1169 c.818G>A c.(817-819)cGa>cAa p.R273Q AC016723.4_ENST00000430546.1_RNA|AC016723.4_ENST00000436982.2_RNA|B3GALT1_ENST00000392690.2_Missense_Mutation_p.R273Q NM_020981.3 NP_066191.1 Q9Y5Z6 B3GT1_HUMAN UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1 273 lipid glycosylation|protein glycosylation Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 18 CTGTGTCTTCGAAAGCTGGGC 0.468000 19 67 0 0 1 0 0 ADAD1 132612 broad.mit.edu 37 4 123301398 123301398 + Splice_Site SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:123301398T>C ENST00000296513.2 + 3 357 c.e3+2 ADAD1_ENST00000388725.2_Splice_Site|ADAD1_ENST00000388724.2_Splice_Site NM_139243.3 NP_640336.1 Q96M93 ADAD1_HUMAN adenosine deaminase domain containing 1 (testis-specific) multicellular organismal development|RNA processing nucleus adenosine deaminase activity|double-stranded RNA binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 35 AAGTAACGGGTACGACTTTTT 0.438000 26 62 0 0 1 0 0 HERC1 8925 broad.mit.edu 37 15 64067503 64067503 + Missense_Mutation SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:64067503A>T ENST00000443617.2 - 2 407 c.320T>A c.(319-321)cTg>cAg p.L107Q NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 107 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 GAGTACAAGCAGTCGTTTTCT 0.478000 14 70 0 0 1 0 0 BAI2 576 broad.mit.edu 37 1 32221928 32221928 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:32221928C>T ENST00000373658.3 - 4 851 c.510G>A c.(508-510)ccG>ccA p.P170P BAI2_ENST00000398556.3_Silent_p.P173P|BAI2_ENST00000398542.1_Silent_p.P158P|BAI2_ENST00000373655.2_Silent_p.P170P|BAI2_ENST00000398538.1_Silent_p.P158P|BAI2_ENST00000257070.4_Silent_p.P170P|BAI2_ENST00000398547.1_Silent_p.P158P|BAI2_ENST00000527361.1_Silent_p.P170P NM_001703.2 NP_001694.2 O60241 BAI2_HUMAN brain-specific angiogenesis inhibitor 2 170 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 55 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174) STAD - Stomach adenocarcinoma(196;0.0557) CCAGCAGGCGCGGGGCCTCGG 0.622000 27 79 0 0 1 0 0 FNDC3A 22862 broad.mit.edu 37 13 49712931 49712931 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr13:49712931T>C ENST00000492622.2 + 7 1114 c.809T>C c.(808-810)gTc>gCc p.V270A FNDC3A_ENST00000398316.3_Missense_Mutation_p.V214A|FNDC3A_ENST00000541916.1_Missense_Mutation_p.V270A NM_001079673.1 NP_001073141.1 Q9Y2H6 FND3A_HUMAN fibronectin type III domain containing 3A 270 Fibronectin type-III 1. Golgi membrane|integral to membrane endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1) 41 all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;2.94e-09) TCCAACATTGTCAAACCAGTG 0.229000 7 39 0 0 1 0 0 LHFPL2 10184 broad.mit.edu 37 5 77805875 77805875 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:77805875C>T ENST00000380345.2 - 4 837 c.162G>A c.(160-162)ccG>ccA p.P54P LHFPL2_ENST00000515007.2_Silent_p.P54P NM_005779.2 NP_005770.1 Q6ZUX7 LHPL2_HUMAN lipoma HMGIC fusion partner-like 2 54 integral to membrane endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1) 6 all_lung(232;0.000409)|Lung NSC(167;0.00108)|Ovarian(174;0.0107)|Prostate(461;0.218) OV - Ovarian serous cystadenocarcinoma(54;6.48e-46)|Epithelial(54;8.43e-42)|all cancers(79;1.42e-36) GGTAGGGCTCCGGGGAgcccc 0.706000 9 24 0 0 1 0 0 KIAA0430 9665 broad.mit.edu 37 16 15694557 15694557 + Splice_Site SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:15694557A>G ENST00000396368.3 - 24 4834 c.4626_splice c.e24-1 p.V1543_splice KIAA0430_ENST00000344181.3_Intron|KIAA0430_ENST00000540441.2_Splice_Site_p.V1378_splice|KIAA0430_ENST00000548025.1_Splice_Site_p.V1540_splice|KIAA0430_ENST00000551742.1_Splice_Site_p.V1543_splice|KIAA0430_ENST00000602337.1_Splice_Site_p.V1540_splice NM_001184998.1|NM_001184999.1|NM_014647.3 NP_001171927.1|NP_001171928.1|NP_055462.2 Q9Y4F3 LKAP_HUMAN KIAA0430 1542 peroxisome nucleotide binding|RNA binding breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1) 40 TATCCAGACCACCTGCACACA 0.458000 4 178 0 0 1 0 0 SLC7A8 23428 broad.mit.edu 37 14 23635670 23635670 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:23635670G>A ENST00000316902.7 - 2 956 c.231C>T c.(229-231)atC>atT p.I77I SLC7A8_ENST00000469263.1_Silent_p.I77I NM_012244.3 NP_036376.2 Q9UHI5 LAT2_HUMAN solute carrier family 7 (amino acid transporter light chain, L system), member 8 77 blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin basolateral plasma membrane|cytoplasm|integral to plasma membrane neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1) 24 all_cancers(95;4.6e-05) GBM - Glioblastoma multiforme(265;0.00809) L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120) CAATCCAGACGATGAGAGCAA 0.542000 91 346 0 0 1 0 0 RGS3 5998 broad.mit.edu 37 9 116299133 116299133 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:116299133T>C ENST00000374140.2 + 20 2181 c.1972T>C c.(1972-1974)Tgc>Cgc p.C658R RGS3_ENST00000343817.5_Missense_Mutation_p.C377R|RGS3_ENST00000317613.6_Missense_Mutation_p.C546R|RGS3_ENST00000462143.1_5'UTR|RGS3_ENST00000350696.5_Missense_Mutation_p.C658R|RGS3_ENST00000394646.3_Missense_Mutation_p.C377R|RGS3_ENST00000374136.1_Missense_Mutation_p.C284R NM_144488.4 NP_652759.3 P49796 RGS3_HUMAN regulator of G-protein signaling 3 658 inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway cytosol|nucleus|plasma membrane GTPase activator activity|signal transducer activity cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 48 GAAGAGAGTGTGCTGGTGCCT 0.582000 8 157 0 0 1 0 0 MIR101-1 406893 broad.mit.edu 37 1 65524139 65524139 + RNA SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:65524139T>C ENST00000362265.1 - 0 52 NR_029516.1 GTTATCACAGTACTGTACCTT 0.507000 3 65 0 0 1 0 0 SPTAN1 6709 broad.mit.edu 37 9 131371248 131371248 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:131371248C>T ENST00000358161.5 + 35 4700 c.4587C>T c.(4585-4587)gtC>gtT p.V1529V SPTAN1_ENST00000372731.4_Silent_p.V1529V|SPTAN1_ENST00000372739.3_Silent_p.V1529V Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 1529 actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 87 GCAATGAGGTCTTGGACAGGT 0.582000 5 275 0 0 1 0 0 TTC38 55020 broad.mit.edu 37 22 46685777 46685777 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr22:46685777G>A ENST00000381031.3 + 13 1373 c.1297G>A c.(1297-1299)Gtc>Atc p.V433I TTC38_ENST00000445282.2_Missense_Mutation_p.V375I NM_017931.2 NP_060401.2 Q5R3I4 TTC38_HUMAN tetratricopeptide repeat domain 38 433 binding endometrium(4)|large_intestine(3)|lung(4)|ovary(1) 12 CACCTCCAGCGTCCATAAGAA 0.597000 29 74 0 0 1 0 0 ACTL6B 51412 broad.mit.edu 37 7 100244703 100244703 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:100244703G>A ENST00000160382.5 - 10 933 c.827C>T c.(826-828)gCt>gTt p.A276V NM_016188.4 NP_057272.1 O94805 ACL6B_HUMAN actin-like 6B 276 chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nBAF complex|SWI/SNF complex ATP binding|protein binding|structural constituent of cytoskeleton endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1) 13 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) CATTTGTGCAGCCACCCTACC 0.627000 18 56 0 0 1 0 0 UBC 7316 broad.mit.edu 37 12 125397539 125397539 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:125397539T>C ENST00000536769.1 - 1 2355 c.779A>G c.(778-780)gAc>gGc p.D260G UBC_ENST00000546120.1_Missense_Mutation_p.D184G|UBC_ENST00000538617.1_Intron|UBC_ENST00000339647.5_Missense_Mutation_p.D260G P0CG48 UBC_HUMAN ubiquitin C 260 Ubiquitin-like 4. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|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|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308) GCCTTCCTTGTCTTGGATCTT 0.517000 55 356 0 0 1 0 0 PBRM1 55193 broad.mit.edu 37 3 52637555 52637555 + Nonsense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:52637555G>A ENST00000356770.4 - 16 2667 c.2665C>T c.(2665-2667)Cga>Tga p.R889* PBRM1_ENST00000296302.7_Nonsense_Mutation_p.R921*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.R936*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.R921*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.R936*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.R921*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.R921*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.R921* Q86U86 PB1_HUMAN polybromo 1 921 chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome chromatin binding|DNA binding|protein binding p.R921*(2)|p.R889*(1) breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1) 335 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) TCTTCTTCTCGTTTTAGTTTA 0.343000 """Mis, N, F, S, D, O""" """clear cell renal carcinoma, breast""" 8 19 0 0 1 0 0 GAL3ST3 89792 broad.mit.edu 37 11 65810721 65810721 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:65810721G>A ENST00000312006.4 - 3 834 c.553C>T c.(553-555)Cgc>Tgc p.R185C GAL3ST3_ENST00000527878.1_Missense_Mutation_p.R185C NM_033036.2 NP_149025.1 Q96A11 G3ST3_HUMAN galactose-3-O-sulfotransferase 3 185 monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi cisterna membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity kidney(1)|lung(9)|ovary(2)|skin(2) 14 TCGGGCGCGCGCAGGAAGGCC 0.682000 23 55 0 0 1 0 0 ATP6V0A1 535 broad.mit.edu 37 17 40639195 40639195 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:40639195A>G ENST00000343619.4 + 10 956 c.833A>G c.(832-834)cAc>cGc p.H278R ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.H278R|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.H278R|ATP6V0A1_ENST00000544137.1_Intron|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.H235R|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.H235R|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.H285R NM_001130021.1 NP_001123493.1 Q93050 VPP1_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a1 278 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3) 26 all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254) BRCA - Breast invasive adenocarcinoma(366;0.137) ACGGAGGATCACCGCCAGAGG 0.493000 43 105 0 0 1 0 0 CTBP2 1488 broad.mit.edu 37 10 126715969 126715969 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:126715969T>C ENST00000309035.6 - 1 490 c.360A>G c.(358-360)gtA>gtG p.V120V CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000531469.1_Intron|CTBP2_ENST00000337195.5_Intron|CTBP2_ENST00000411419.2_Intron NM_022802.2 NP_073713.2 P56545 CTBP2_HUMAN C-terminal binding protein 2 0 negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation cell junction|synapse|transcriptional repressor complex NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173) Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147) GCTCTTTGGGTACCCTAGCAG 0.612000 9 107 0 0 1 0 0 TNC 3371 broad.mit.edu 37 9 117822164 117822164 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:117822164A>G ENST00000350763.4 - 14 4562 c.4151T>C c.(4150-4152)gTc>gCc p.V1384A TNC_ENST00000341037.4_Missense_Mutation_p.V1293A|TNC_ENST00000340094.3_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000535648.1_Intron|TNC_ENST00000542877.1_Intron|TNC_ENST00000423613.2_Missense_Mutation_p.V1384A|TNC_ENST00000345230.3_Intron|TNC_ENST00000346706.3_Intron NM_002160.3 NP_002151.2 P24821 TENA_HUMAN tenascin C 1384 Fibronectin type-III 9. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 120 CACTTTGTTGACCTCCTGCAC 0.582000 43 66 0 0 1 0 0 ZZZ3 26009 broad.mit.edu 37 1 78098605 78098605 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:78098605T>C ENST00000370801.3 - 5 910 c.435A>G c.(433-435)gaA>gaG p.E145E ZZZ3_ENST00000370798.1_Intron NM_015534.4 NP_056349.1 Q8IYH5 ZZZ3_HUMAN zinc finger, ZZ-type containing 3 145 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2) 39 TACTCCTCTGTTCTACTGACT 0.368000 23 183 0 0 1 0 0 SGOL2 151246 broad.mit.edu 37 2 201437985 201437985 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:201437985T>C ENST00000357799.4 + 7 3014 c.2916T>C c.(2914-2916)agT>agC p.S972S NM_001160033.1|NM_001160046.1|NM_152524.5 NP_001153505.1|NP_001153518.1|NP_689737.4 Q562F6 SGOL2_HUMAN shugoshin-like 2 (S. pombe) 972 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol|mitotic cohesin complex protein binding NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 46 AAAAGGAAAGTTGTGATCAAA 0.279000 16 58 0 0 1 0 0 KLRK1 22914 broad.mit.edu 37 12 10531151 10531151 + Splice_Site SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:10531151A>G ENST00000240618.6 - 6 570 c.e6+1 KLRC4-KLRK1_ENST00000539300.1_Splice_Site|KLRK1_ENST00000540818.1_Splice_Site|RP11-277P12.20_ENST00000500682.1_RNA NM_001199805.1|NM_007360.3 NP_001186734.1|NP_031386.2 P26718 NKG2D_HUMAN killer cell lectin-like receptor subfamily K, member 1 natural killer cell activation|T cell costimulation integral to plasma membrane sugar binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1) 9 TAAATACTCAACCTGGTCCTC 0.378000 10 62 0 0 1 0 0 OR2T12 127064 broad.mit.edu 37 1 248458064 248458064 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:248458064A>G ENST00000317996.1 - 1 816 c.817T>C c.(817-819)Tca>Cca p.S273P NM_001004692.1 NP_001004692.1 Q8NG77 O2T12_HUMAN olfactory receptor, family 2, subfamily T, member 12 273 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0201) TAGAAGGCTGACACAACCTTA 0.488000 33 150 0 0 1 0 0 TNRC6A 27327 broad.mit.edu 37 16 24835045 24835045 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:24835045G>A ENST00000395799.3 + 25 5935 c.5806G>A c.(5806-5808)Gac>Aac p.D1936N TNRC6A_ENST00000315183.7_Missense_Mutation_p.D1887N|TNRC6A_ENST00000432286.2_Missense_Mutation_p.D414N NM_014494.2 NP_055309.2 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 1936 Sufficient for interaction with EIF2C2. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 GBM - Glioblastoma multiforme(48;0.0394) AAGCAGCAGCGACCCCCGAGG 0.567000 53 157 0 0 1 0 0 FAM211A 388341 broad.mit.edu 37 17 16347048 16347048 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:16347048T>C ENST00000470794.1 - 4 916 c.889A>G c.(889-891)Acc>Gcc p.T297A C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000478103.2_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000580770.1_RNA|FAM211A_ENST00000409083.3_3'UTR NM_001113567.2 NP_001107039.1 Q8NAA5 CQ076_HUMAN family with sequence similarity 211, member A 297 lung(1) 1 TCCAGGATGGTGGGTAGGTGG 0.667000 10 37 0 0 1 0 0 NOVA1 4857 broad.mit.edu 37 14 26917503 26917503 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:26917503T>C ENST00000539517.2 - 5 1503 c.1186A>G c.(1186-1188)Aat>Gat p.N396D NOVA1_ENST00000267422.7_Missense_Mutation_p.N274D|NOVA1_ENST00000465357.2_Missense_Mutation_p.N372D NM_002515.2 NP_002506.2 P51513 NOVA1_HUMAN neuro-oncological ventral antigen 1 399 Ala-rich. locomotory behavior|RNA splicing|synaptic transmission nucleus RNA binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(265;0.0135) AAATATCCATTGGTTGCAGCA 0.537000 14 45 0 0 1 0 0 MTR 4548 broad.mit.edu 37 1 236959026 236959026 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:236959026T>C ENST00000366577.5 + 1 417 c.23T>C c.(22-24)cTg>cCg p.L8P MTR_ENST00000418145.2_Missense_Mutation_p.C136R|MTR_ENST00000535889.1_Missense_Mutation_p.L8P NM_000254.2 NP_000245.2 Q99707 METH_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase 8 nervous system development|xenobiotic metabolic process cytosol cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 67 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117) OV - Ovarian serous cystadenocarcinoma(106;0.0106) KIRC - Kidney renal clear cell carcinoma(1967;0.248) Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116) CTCCAAGACCTGTCGCAACCC 0.627000 20 70 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21721179 21721179 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:21721179A>G ENST00000328843.6 + 31 5390 c.5359A>G c.(5359-5361)Aca>Gca p.T1787A DNAH11_ENST00000409508.3_Missense_Mutation_p.T1782A Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 1787 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 TCAGCTGAATACACTGATTAC 0.393000 Kartagener syndrome 3 33 0 0 1 0 0 ZNF395 55893 broad.mit.edu 37 8 28218619 28218619 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:28218619C>T ENST00000344423.5 - 2 154 c.23G>A c.(22-24)cGc>cAc p.R8H ZNF395_ENST00000523202.1_Missense_Mutation_p.R8H|ZNF395_ENST00000523095.1_Missense_Mutation_p.R8H NM_018660.2 NP_061130.1 Q9H8N7 ZN395_HUMAN zinc finger protein 395 8 transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Ovarian(32;2.06e-05) KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142) CTTTCCAAGGCGTCGGGACAG 0.677000 34 60 0 0 1 0 0 MDC1 9656 broad.mit.edu 37 6 30675572 30675572 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:30675572G>A ENST00000376406.3 - 8 3431 c.2784C>T c.(2782-2784)tgC>tgT p.C928C MDC1_ENST00000376405.2_Intron|MDC1-AS1_ENST00000442150.1_RNA NM_014641.2 NP_055456.2 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 928 Missing (in Ref. 2; CAH18685). cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|kidney(1)|ovary(1) 4 CGGCTGGATCGCACTCTCTGT 0.507000 Other conserved DNA damage response genes 36 121 0 0 1 0 0 THAP9 79725 broad.mit.edu 37 4 83839815 83839815 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:83839815T>C ENST00000302236.5 + 5 2501 c.2450T>C c.(2449-2451)gTg>gCg p.V817A LIN54_ENST00000505905.1_Intron NM_024672.4 NP_078948.3 Q9H5L6 THAP9_HUMAN THAP domain containing 9 817 DNA binding|metal ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3) 33 Hepatocellular(203;0.114) TTTGTAGATGTGAATAAGCAT 0.308000 25 54 0 0 1 0 0 IGSF22 283284 broad.mit.edu 37 11 18743175 18743175 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:18743175T>C ENST00000513874.1 - 4 424 c.285A>G c.(283-285)aaA>aaG p.K95K RP11-1081L13.4_ENST00000527285.1_RNA NM_173588.3 NP_775859.3 Q8N9C0 IGS22_HUMAN immunoglobulin superfamily, member 22 95 Ig-like 1. NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3) 56 AGATGTGGGGTTTGGCGTTCC 0.597000 OREG0020822 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 136 0 0 1 0 0 ADAMTS9 56999 broad.mit.edu 37 3 64524953 64524953 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:64524953C>T ENST00000498707.1 - 37 5881 c.5539G>A c.(5539-5541)Gca>Aca p.A1847T ADAMTS9_ENST00000295903.4_Missense_Mutation_p.A1819T NM_182920.1 NP_891550.1 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 9 1847 GON. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 100 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) CTTGTCCTTGCAAACTGTAAG 0.552000 15 52 0 0 1 0 0 MFSD2B 388931 broad.mit.edu 37 2 24247074 24247074 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:24247074A>G ENST00000338315.4 + 13 1423 c.1423A>G c.(1423-1425)Atc>Gtc p.I475V MFSD2B_ENST00000406420.3_Missense_Mutation_p.I475V A6NFX1 MFS2B_HUMAN major facilitator superfamily domain containing 2B 475 transport integral to membrane cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2) 10 TGGGCTCTGCATCCTCATGGT 0.642000 6 33 0 0 1 0 0 PI3 5266 broad.mit.edu 37 20 43804535 43804535 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:43804535G>A ENST00000243924.3 + 2 160 c.113G>A c.(112-114)cGt>cAt p.R38H NM_002638.3 NP_002629.1 P19957 ELAF_HUMAN peptidase inhibitor 3, skin-derived 38 2 X tandem repeats of SVP-1 like motif. copulation proteinaceous extracellular matrix serine-type endopeptidase inhibitor activity large_intestine(1)|lung(5)|skin(1) 7 Myeloproliferative disorder(115;0.0122) GTCAAAGGCCGTGTTCCATTC 0.443000 42 130 0 0 1 0 0 CEP164 22897 broad.mit.edu 37 11 117222548 117222548 + Silent SNP C C T rs149281923 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:117222548C>T ENST00000278935.3 + 5 384 c.237C>T c.(235-237)aaC>aaT p.N79N NM_014956.4 NP_055771.4 Q9UPV0 CE164_HUMAN centrosomal protein 164kDa 79 Interaction with ATRIP.|WW. cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis centriole|cytosol|nucleus breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3) 47 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008) ACTTCGCCAACGGGCAGTCTA 0.478000 26 102 0 0 1 0 0 FZD10 11211 broad.mit.edu 37 12 130647821 130647821 + Nonsense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:130647821C>T ENST00000229030.4 + 1 818 c.334C>T c.(334-336)Cag>Tag p.Q112* FZD10_ENST00000539839.1_Missense_Mutation_p.A79V Q9ULW2 FZD10_HUMAN frizzled family receptor 10 112 FZ. brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development cell projection|cell surface|cytoplasm|integral to plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1) 35 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05) CATGTGCGAGCAGGCCCGGCT 0.632000 33 207 0 0 1 0 0 MKI67 4288 broad.mit.edu 37 10 129907004 129907004 + Missense_Mutation SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:129907004C>A ENST00000368654.3 - 13 3475 c.3100G>T c.(3100-3102)Gtg>Ttg p.V1034L MKI67_ENST00000368653.3_Missense_Mutation_p.V674L NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 1034 16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) TCTTCTTTCACACCTACTTTC 0.507000 11 672 0.00010058 0.000102188 1 1 0 FMN2 56776 broad.mit.edu 37 1 240370643 240370643 + Missense_Mutation SNP C C G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:240370643C>G ENST00000319653.9 + 5 2761 c.2531C>G c.(2530-2532)tCt>tGt p.S844C NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 844 FH1.|Pro-rich. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) CACGAACACTCTGTTTCCTCT 0.562000 32 113 0 0 1 0 0 EN1 2019 broad.mit.edu 37 2 119600542 119600542 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:119600542G>A ENST00000295206.6 - 2 1661 c.1151C>T c.(1150-1152)aCg>aTg p.T384M NM_001426.3 NP_001417.3 Q05925 HME1_HUMAN engrailed homeobox 1 384 skeletal system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 9 GTCCTGGACCGTGGTGGTGGA 0.687000 13 56 0 0 1 0 0 MAP1A 4130 broad.mit.edu 37 15 43815131 43815131 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:43815131A>G ENST00000382031.1 + 5 2205 c.2174A>G c.(2173-2175)gAc>gGc p.D725G MAP1A_ENST00000300231.5_Missense_Mutation_p.D487G|MAP1A_ENST00000399453.1_Missense_Mutation_p.D487G P78559 MAP1A_HUMAN microtubule-associated protein 1A 487 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) GTCAAAATAGACAGGAGCCGT 0.542000 5 33 0 0 1 0 0 STOX2 56977 broad.mit.edu 37 4 184930607 184930607 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:184930607G>A ENST00000308497.4 + 3 2051 c.616G>A c.(616-618)Gtg>Atg p.V206M STOX2_ENST00000438269.1_Missense_Mutation_p.V206M NM_020225.1 NP_064610.1 Q9P2F5 STOX2_HUMAN storkhead box 2 206 embryo development|maternal placenta development breast(1)|endometrium(7)|lung(6) 14 all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283) all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227) CAGAGAAGACGTGCACAGCAC 0.592000 28 92 0 0 1 0 0 GSG2 83903 broad.mit.edu 37 17 3629040 3629040 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:3629040A>G ENST00000325418.4 + 1 1830 c.1811A>G c.(1810-1812)gAa>gGa p.E604G ITGAE_ENST00000571185.1_Intron|ITGAE_ENST00000263087.4_Intron NM_031965.2 NP_114171.2 Q8TF76 HASP_HUMAN germ cell associated 2 (haspin) 604 Protein kinase. cell cycle|chromatin modification|intracellular protein kinase cascade nucleus ATP binding|protein serine/threonine kinase activity ATTGTGCTGGAATTTGAGTTT 0.473000 49 105 0 0 1 0 0 AHCTF1 25909 broad.mit.edu 37 1 247014460 247014460 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:247014460T>C ENST00000366508.1 - 33 5089 c.4953A>G c.(4951-4953)aaA>aaG p.K1651K AHCTF1_ENST00000326225.3_Silent_p.K1625K|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000391829.2_Silent_p.K1616K Q8WYP5 ELYS_HUMAN AT hook containing transcription factor 1 1616 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 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) TGTTAGCTGCTTTAGGTAACA 0.403000 23 81 0 0 1 0 0 OR5T2 219464 broad.mit.edu 37 11 55999741 55999741 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:55999741C>T ENST00000313264.4 - 1 996 c.921G>A c.(919-921)tcG>tcA p.S307S NM_001004746.1 NP_001004746.1 Q8NGG2 OR5T2_HUMAN olfactory receptor, family 5, subfamily T, member 2 307 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S307S(1) endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3) 41 Esophageal squamous(21;0.00448) TGTCATGGTCCGAAGCATAGC 0.408000 6 191 0 0 1 0 0 C7orf63 79846 broad.mit.edu 37 7 89927085 89927085 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:89927085C>T ENST00000389297.4 + 16 2049 c.1798C>T c.(1798-1800)Ccc>Tcc p.P600S C7orf63_ENST00000316089.8_Missense_Mutation_p.P600S|C7orf63_ENST00000497910.1_Missense_Mutation_p.P582S NM_001039706.2|NM_001160138.1 NP_001034795.2|NP_001153610.1 A5D8W1 CG063_HUMAN chromosome 7 open reading frame 63 600 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3) 37 GGGATGTTATCCCTCAGAGGA 0.289000 14 66 0 0 1 0 0 YY1 7528 broad.mit.edu 37 14 100706061 100706061 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:100706061C>T ENST00000262238.4 + 1 740 c.480C>T c.(478-480)ggC>ggT p.G160G NM_003403.3 NP_003394.1 P25490 TYY1_HUMAN YY1 transcription factor 160 Gly/Ser-rich. cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis Ino80 complex|nuclear matrix|plasma membrane four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1) 11 Melanoma(154;0.152) gcaagagcggcggcggcggct 0.716000 7 18 0 0 1 0 0 HYAL2 8692 broad.mit.edu 37 3 50355698 50355698 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:50355698C>T ENST00000447092.1 - 3 3576 c.1284G>A c.(1282-1284)caG>caA p.Q428Q HYAL2_ENST00000357750.4_Silent_p.Q428Q|HYAL2_ENST00000395139.3_Silent_p.Q428Q|HYAL2_ENST00000442581.1_Silent_p.Q428Q Q12891 HYAL2_HUMAN hyaluronoglucosaminidase 2 428 EGF-like. anchored to membrane|lysosome|plasma membrane hyalurononglucosaminidase activity|receptor activity breast(1)|endometrium(2)|kidney(1)|ovary(1)|prostate(1)|skin(1) 7 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) Hyaluronidase(DB00070) CCAAGTAGCACTGGCAGCGGA 0.647000 18 63 0 0 1 0 0 MYO5B 4645 broad.mit.edu 37 18 47429119 47429119 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr18:47429119C>T ENST00000285039.7 - 21 2955 c.2656G>A c.(2656-2658)Gca>Aca p.A886T MYO5B_ENST00000324581.6_Missense_Mutation_p.A27T NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 886 Arg-rich.|IQ 5. protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) ACAATGGCTGCATCCCGCAGC 0.627000 22 46 0 0 1 0 0 BDKRB2 624 broad.mit.edu 37 14 96707261 96707261 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:96707261A>G ENST00000542454.2 + 3 3603 c.515A>G c.(514-516)aAg>aGg p.K172R BDKRB2_ENST00000539359.1_Missense_Mutation_p.K172R|BDKRB2_ENST00000554311.1_Missense_Mutation_p.K199R|RP11-404P21.8_ENST00000553811.1_Intron|BDKRB2_ENST00000306005.3_Missense_Mutation_p.K199R P30411 BKRB2_HUMAN bradykinin receptor B2 199 arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway endosome|integral to plasma membrane bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1) 24 all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.226) CGGACCATGAAGGAGTACAGC 0.602000 25 74 0 0 1 0 0 SLC35D3 340146 broad.mit.edu 37 6 137245154 137245154 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:137245154T>C ENST00000331858.4 + 2 736 c.571T>C c.(571-573)Tac>Cac p.Y191H NM_001008783.1 NP_001008783.1 Q5M8T2 S35D3_HUMAN solute carrier family 35, member D3 191 carbohydrate transport integral to membrane central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1) 13 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365) CACCGCGCAGTACGTCATCGC 0.682000 3 23 0 0 1 0 0 TAP2 6891 broad.mit.edu 37 6 32797232 32797232 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:32797232C>T ENST00000374897.2 - 11 2008 c.1877G>A c.(1876-1878)cGg>cAg p.R626Q TAP2_ENST00000374899.4_Missense_Mutation_p.R626Q|TAP2_ENST00000452392.2_Missense_Mutation_p.R626Q NM_000544.3 NP_000535.3 Q03519 TAP2_HUMAN transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) 626 ABC transporter. antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity nucleus|plasma membrane|TAP complex ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding GATGAGGACCCGCGGGTCTCG 0.617000 5 19 0 0 1 0 0 INHBB 3625 broad.mit.edu 37 2 121106804 121106804 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:121106804G>A ENST00000295228.3 + 2 624 c.578G>A c.(577-579)aGc>aAc p.S193N NM_002193.2 NP_002184.2 P09529 INHBB_HUMAN inhibin, beta B 193 activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation extracellular region|perinuclear region of cytoplasm cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2) 15 Prostate(154;0.122) GAGAAGGGCAGCCGGCGGAAG 0.592000 29 89 0 0 1 0 0 RNF41 10193 broad.mit.edu 37 12 56601481 56601481 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:56601481T>C ENST00000345093.4 - 6 920 c.551A>G c.(550-552)aAc>aGc p.N184S RNF41_ENST00000552656.1_Missense_Mutation_p.N184S|RNF41_ENST00000394013.2_Missense_Mutation_p.N113S|RNF41_ENST00000552244.1_Missense_Mutation_p.N184S NM_005785.3|NM_194359.2 NP_005776.1|NP_919340.1 Q9H4P4 RNF41_HUMAN ring finger protein 41 184 apoptosis|induction of apoptosis|protein polyubiquitination|regulation of reactive oxygen species metabolic process protein binding|protein tag|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1) 11 AAGGTTGGGGTTGACACTGCG 0.488000 4 335 0 0 1 0 0 RAD50 10111 broad.mit.edu 37 5 131940675 131940675 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:131940675T>C ENST00000378823.3 + 16 3103 c.2285T>C c.(2284-2286)tTg>tCg p.L762S RAD50_ENST00000265335.6_Missense_Mutation_p.L901S NM_005732.3 NP_005723.2 Q92878 RAD50_HUMAN RAD50 homolog (S. cerevisiae) 901 DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 all_cancers(142;0.0368)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GTTCAGTCTTTGTACAGAGAG 0.318000 Homologous recombination 15 26 0 0 1 0 0 SLC47A1 55244 broad.mit.edu 37 17 19470408 19470408 + Splice_Site SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:19470408G>A ENST00000270570.4 + 14 1262 c.e14-1 RP11-1113L8.1_ENST00000574267.1_RNA|SLC47A1_ENST00000575023.1_Intron|SLC47A1_ENST00000436810.2_Splice_Site|SLC47A1_ENST00000395585.1_Splice_Site|SLC47A1_ENST00000571335.1_Splice_Site|SLC47A1_ENST00000457293.1_Splice_Site NM_018242.2 NP_060712.2 Q96FL8 S47A1_HUMAN solute carrier family 47 (multidrug and toxin extrusion), member 1 integral to membrane|plasma membrane drug:hydrogen antiporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 23 all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345) TCTGCCTGCAGTGCACGAGTG 0.517000 22 323 0 0 1 0 0 HERC1 8925 broad.mit.edu 37 15 64067489 64067489 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:64067489G>A ENST00000443617.2 - 2 421 c.334C>T c.(334-336)Cgt>Tgt p.R112C NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 112 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 TAAAAGACACGCTGGAGTACA 0.473000 37 58 0 0 1 0 0 DHFRL1 200895 broad.mit.edu 37 3 93780281 93780281 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:93780281C>T ENST00000394221.2 - 2 524 c.75G>A c.(73-75)agG>agA p.R25R DHFRL1_ENST00000481631.1_5'UTR|DHFRL1_ENST00000314636.2_Silent_p.R25R NM_001195643.1 NP_001182572.1 Q86XF0 DYRL1_HUMAN dihydrofolate reductase-like 1 25 DHFR. glycine biosynthetic process|nucleotide biosynthetic process|one-carbon metabolic process dihydrofolate reductase activity|NADP binding kidney(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1) 8 TGAGCGGCGGCCTGGGCAGGT 0.502000 12 162 0 0 1 0 0 GRM7 2917 broad.mit.edu 37 3 7620598 7620598 + Missense_Mutation SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:7620598A>T ENST00000486284.1 + 8 2279 c.2005A>T c.(2005-2007)Agt>Tgt p.S669C GRM7_ENST00000389336.4_Missense_Mutation_p.S669C|GRM7_ENST00000402647.2_Missense_Mutation_p.S669C|GRM7_ENST00000403881.1_Missense_Mutation_p.S669C|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000357716.4_Missense_Mutation_p.S669C NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 669 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) TATGTGCATCAGTTATGCAGC 0.448000 25 80 0 0 1 0 0 NPR3 4883 broad.mit.edu 37 5 32774849 32774849 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:32774849C>T ENST00000265074.8 + 4 1438 c.1095C>T c.(1093-1095)atC>atT p.I365I NPR3_ENST00000415685.2_Silent_p.I149I|NPR3_ENST00000415167.2_Silent_p.I365I|NPR3_ENST00000434067.2_Silent_p.I149I NM_000908.3|NM_001204375.1 NP_000899.1|NP_001191304.1 P17342 ANPRC_HUMAN natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C) 365 osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development integral to membrane hormone binding|natriuretic peptide receptor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 24 Nesiritide(DB04899) ACGATGCCATCCTCCTCTACG 0.433000 67 178 0 0 1 0 0 PTPRK 5796 broad.mit.edu 37 6 128411046 128411046 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:128411046C>T ENST00000368227.3 - 8 1620 c.1254G>A c.(1252-1254)acG>acA p.T418T PTPRK_ENST00000368215.3_Silent_p.T418T|PTPRK_ENST00000368207.3_Silent_p.T418T|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368213.5_Silent_p.T418T|PTPRK_ENST00000368226.4_Silent_p.T418T|PTPRK_ENST00000368210.3_Silent_p.T418T|PTPRK_ENST00000532331.1_Silent_p.T418T Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 418 Fibronectin type-III 2. cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity PTPRK/RSPO3(10) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) TGTGGCAACGCGTAATGTTGT 0.463000 19 74 0 0 1 0 0 LARP4B 23185 broad.mit.edu 37 10 863782 863782 + Missense_Mutation SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:863782G>T ENST00000316157.3 - 14 1618 c.1578C>A c.(1576-1578)agC>agA p.S526R NM_015155.1 NP_055970.1 Q92615 LAR4B_HUMAN La ribonucleoprotein domain family, member 4B 526 nucleotide binding|RNA binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2) 38 CCAGCTCGAAGCTTGGCGACG 0.542000 50 136 1.19451e-25 1.26519e-25 1 1 0 FBXO44 93611 broad.mit.edu 37 1 11718437 11718437 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:11718437G>A ENST00000376770.1 + 4 877 c.379G>A c.(379-381)Gtt>Att p.V127I FBXO44_ENST00000376768.1_Intron|FBXO44_ENST00000376760.1_Intron|FBXO44_ENST00000376762.4_Intron|FBXO44_ENST00000251547.5_Missense_Mutation_p.V127I|FBXO44_ENST00000251546.4_Intron NM_001014765.1 NP_001014765.1 Q9H4M3 FBX44_HUMAN F-box protein 44 127 FBA. protein catabolic process SCF ubiquitin ligase complex protein binding kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1) 8 Ovarian(185;0.249) Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649) GAAATACTTCGTTACTTCATA 0.532000 34 112 0 0 1 0 0 BTN1A1 696 broad.mit.edu 37 6 26507049 26507049 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:26507049T>C ENST00000244513.6 + 4 914 c.848T>C c.(847-849)tTc>tCc p.F283S NM_001732.2 NP_001723.2 Q13410 BT1A1_HUMAN butyrophilin, subfamily 1, member A1 283 extracellular region|integral to plasma membrane receptor activity endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1) 26 AGGAATGAATTCAGCTCTAAA 0.448000 10 259 0 0 1 0 0 CHD1 1105 broad.mit.edu 37 5 98205478 98205478 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:98205478A>G ENST00000284049.3 - 29 4236 c.4087T>C c.(4087-4089)Tct>Cct p.S1363P CHD1_ENST00000511067.1_5'UTR NM_001270.2 NP_001261.2 O14646 CHD1_HUMAN chromodomain helicase DNA binding protein 1 1363 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 49 all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117) COAD - Colon adenocarcinoma(37;0.0717) Epirubicin(DB00445) TCTTCATCAGACTTCTCTGAA 0.323000 3 52 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41711055 41711055 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr21:41711055T>C ENST00000400454.1 - 7 1975 c.1498A>G c.(1498-1500)Aac>Gac p.N500D NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 500 Ig-like C2-type 5. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) CCTCTTACGTTTATTCGAGCC 0.517000 20 52 0 0 1 0 0 STYX 6815 broad.mit.edu 37 14 53235559 53235559 + Splice_Site SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:53235559A>G ENST00000354586.4 + 10 799 c.504_splice c.e10-1 p.E169_splice STYX_ENST00000556861.1_Intron|STYX_ENST00000442123.2_Splice_Site_p.E169_splice NM_145251.3 NP_660294.1 Q8WUJ0 STYX_HUMAN serine/threonine/tyrosine interacting protein 169 protein dephosphorylation|spermatogenesis cytoplasm protein tyrosine/serine/threonine phosphatase activity endometrium(1)|kidney(1)|large_intestine(2)|lung(1) 5 Breast(41;0.176) tttttttaGGAATATGAAGCC 0.303000 34 47 0 0 1 0 0 SYMPK 8189 broad.mit.edu 37 19 46341722 46341722 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:46341722A>G ENST00000245934.7 - 10 1483 c.1239T>C c.(1237-1239)aaT>aaC p.N413N NM_004819.2 NP_004810.2 Q92797 SYMPK_HUMAN symplekin 413 cell adhesion|mRNA processing cytoplasm|cytoskeleton|nucleoplasm|tight junction protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1) 45 all_neural(266;0.0299)|Ovarian(192;0.0308) OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593) TCCTCACCAGATTAGCCACAT 0.597000 6 34 0 0 1 0 0 ZNF574 64763 broad.mit.edu 37 19 42583151 42583151 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:42583151C>T ENST00000600245.1 + 2 1048 c.393C>T c.(391-393)tgC>tgT p.C131C CTB-59C6.3_ENST00000594531.1_RNA|ZNF574_ENST00000222339.7_Silent_p.C221C|ZNF574_ENST00000359044.4_Silent_p.C131C Q6ZN55 ZN574_HUMAN zinc finger protein 574 131 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 20 Prostate(69;0.059) GTGTGGATTGCAAGGCTCTCT 0.632000 24 81 0 0 1 0 0 POLR2F 5435 broad.mit.edu 37 22 38349816 38349816 + Splice_Site SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr22:38349816T>C ENST00000442738.2 + 1 145 c.e1+2 POLR2F_ENST00000407936.1_Splice_Site|POLR2F_ENST00000606538.1_Splice_Site|POLR2F_ENST00000405557.1_Splice_Site|POLR2F_ENST00000488684.1_Splice_Site|POLR2F_ENST00000484894.1_Intron|POLR2F_ENST00000470701.1_5'UTR|POLR2F_ENST00000460648.1_Splice_Site NM_021974.3 NP_068809.1 P61218 RPAB2_HUMAN polymerase (RNA) II (DNA directed) polypeptide F mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex|nucleolus DNA binding|DNA-directed RNA polymerase activity breast(1)|urinary_tract(2) 3 Melanoma(58;0.045) CGAGGACAAGTGAGTGCGGGA 0.667000 10 29 0 0 1 0 0 CAPRIN1 4076 broad.mit.edu 37 11 34074146 34074146 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:34074146T>C ENST00000341394.4 + 2 368 c.179T>C c.(178-180)gTg>gCg p.V60A CAPRIN1_ENST00000389645.3_Missense_Mutation_p.V60A|CAPRIN1_ENST00000530820.1_Missense_Mutation_p.V60A|CAPRIN1_ENST00000532820.1_Missense_Mutation_p.V60A NM_005898.4 NP_005889.3 Q14444 CAPR1_HUMAN cell cycle associated protein 1 60 negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule protein binding|RNA binding breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1) 18 Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016) ATTCTCGGGGTGATCGACAAG 0.701000 9 19 0 0 1 0 0 TSC22D4 81628 broad.mit.edu 37 7 100065214 100065214 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:100065214T>C ENST00000300181.2 - 4 1693 c.939A>G c.(937-939)ggA>ggG p.G313G TSC22D4_ENST00000393991.1_Silent_p.G74G|TSC22D4_ENST00000496728.1_5'UTR NM_030935.3 NP_112197.1 Q9Y3Q8 T22D4_HUMAN TSC22 domain family, member 4 313 negative regulation of transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding transcription factor activity breast(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1) 8 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CAACCAGGCTTCCGGAGCCAC 0.602000 19 68 0 0 1 0 0 MOGS 7841 broad.mit.edu 37 2 74689730 74689730 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:74689730T>C ENST00000233616.4 - 4 1348 c.1186A>G c.(1186-1188)Agc>Ggc p.S396G MOGS_ENST00000409065.1_3'UTR|MOGS_ENST00000452063.2_Missense_Mutation_p.S290G NM_006302.2 NP_006293.2 Q13724 MOGS_HUMAN mannosyl-oligosaccharide glucosidase 396 oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane|membrane fraction mannosyl-oligosaccharide glucosidase activity cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2) 23 AGGAGGCCGCTGAGGGCAGCC 0.582000 9 310 0 0 1 0 0 GMPS 8833 broad.mit.edu 37 3 155654227 155654227 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:155654227T>C ENST00000496455.1 + 15 2243 c.1908T>C c.(1906-1908)gtT>gtC p.V636V GMPS_ENST00000295920.7_Silent_p.V537V NM_003875.2 NP_003866.1 P49915 GUAA_HUMAN guanine monphosphate synthase 636 glutamine metabolic process|purine base biosynthetic process cytosol ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) GATCTGTGGTTATTCGAACCT 0.418000 T MLL AML 19 150 0 0 1 0 0 PCDH19 57526 broad.mit.edu 37 X 99662998 99662998 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chrX:99662998T>C ENST00000373034.4 - 1 2273 c.598A>G c.(598-600)Acg>Gcg p.T200A PCDH19_ENST00000255531.7_Missense_Mutation_p.T200A|PCDH19_ENST00000420881.2_Missense_Mutation_p.T200A NM_001184880.1 NP_001171809.1 Q8TAB3 PCD19_HUMAN protocadherin 19 200 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 68 TGCGACTGCGTCTCGCGGTCC 0.637000 29 34 0 0 1 0 0 NCKIPSD 51517 broad.mit.edu 37 3 48717525 48717525 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:48717525G>A ENST00000294129.2 - 6 1349 c.1230C>T c.(1228-1230)atC>atT p.I410I NCKIPSD_ENST00000416649.2_Silent_p.I403I|NCKIPSD_ENST00000341520.4_Silent_p.I410I NM_016453.2 NP_057537.1 Q9NZQ3 SPN90_HUMAN NCK interacting protein with SH3 domain 410 cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction intermediate filament|nucleus cytoskeletal protein binding|SH3 domain binding endometrium(1)|large_intestine(3)|lung(6)|prostate(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) GGTAGCAGCGGATGACACCCT 0.602000 37 65 0 0 1 0 0 C16orf62 57020 broad.mit.edu 37 16 19628077 19628077 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:19628077T>C ENST00000438132.3 + 14 1486 c.1438T>C c.(1438-1440)Tac>Cac p.Y480H C16orf62_ENST00000448695.1_Missense_Mutation_p.Y241H|C16orf62_ENST00000417362.2_Intron|C16orf62_ENST00000251143.5_Missense_Mutation_p.Y391H|C16orf62_ENST00000542263.1_Intron|C16orf62_ENST00000543152.1_Missense_Mutation_p.Y140H NM_020314.5 NP_064710.4 Q7Z3J2 CP062_HUMAN chromosome 16 open reading frame 62 391 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 36 CCTCCCCTTGTACCCGCCTGC 0.552000 19 45 0 0 1 0 0 ARHGAP39 80728 broad.mit.edu 37 8 145771072 145771072 + Silent SNP G G A rs139243141 byFrequency TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:145771072G>A ENST00000276826.5 - 5 2283 c.2082C>T c.(2080-2082)atC>atT p.I694I ARHGAP39_ENST00000377307.2_Silent_p.I694I|ARHGAP39_ENST00000540274.1_Silent_p.I694I Q9C0H5 RHG39_HUMAN Rho GTPase activating protein 39 694 axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|nucleus GTPase activator activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 CCCAGTTCTCGATGTCCGTCT 0.642000 53 51 0 0 1 0 0 PHC2 1912 broad.mit.edu 37 1 33790497 33790497 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:33790497T>C ENST00000257118.5 - 14 2599 c.2546A>G c.(2545-2547)tAc>tGc p.Y849C PHC2_ENST00000419414.2_Missense_Mutation_p.Y850C|PHC2_ENST00000373422.3_Missense_Mutation_p.Y455C|PHC2_ENST00000431992.1_Missense_Mutation_p.Y820C|RP11-415J8.3_ENST00000588828.1_RNA|RP11-415J8.3_ENST00000587696.1_RNA|PHC2_ENST00000485928.1_5'UTR|RP11-415J8.3_ENST00000457957.2_RNA|PHC2_ENST00000373418.3_Missense_Mutation_p.Y314C NM_198040.2 NP_932157.1 Q8IXK0 PHC2_HUMAN polyhomeotic homolog 2 (Drosophila) 849 SAM. multicellular organismal development PcG protein complex DNA binding|identical protein binding|zinc ion binding autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) GATGCGGGCGTAGATCTTCAG 0.627000 22 74 0 0 1 0 0 CBX2 84733 broad.mit.edu 37 17 77758181 77758181 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:77758181C>T ENST00000310942.4 + 5 1043 c.939C>T c.(937-939)agC>agT p.S313S NM_005189.2 NP_005180.1 Q14781 CBX2_HUMAN chromobox homolog 2 313 cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent PcG protein complex DNA binding p.S313S(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1) 16 OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224) AGGCCCCCAGCGGTGGGGCTG 0.677000 8 35 0 0 1 0 0 CDYL 9425 broad.mit.edu 37 6 4937972 4937972 + Splice_Site SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:4937972G>A ENST00000328908.5 + 6 1414 c.e6+1 CDYL_ENST00000449732.2_Splice_Site|CDYL_ENST00000397588.3_Splice_Site|CDYL_ENST00000343762.5_Splice_Site|CDYL_ENST00000472453.1_Splice_Site Q9Y232 CDYL1_HUMAN chromodomain protein, Y-like regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus histone acetyltransferase activity breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1) 30 Ovarian(93;0.11) all_hematologic(90;0.0901)|Lung NSC(90;0.244) OV - Ovarian serous cystadenocarcinoma(45;0.182) AAGCTATCAGGTATGTAAAAA 0.373000 18 47 0 0 1 0 0 PRKD1 5587 broad.mit.edu 37 14 30107747 30107747 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:30107747A>G ENST00000331968.5 - 6 1162 c.933T>C c.(931-933)cgT>cgC p.R311R PRKD1_ENST00000415220.2_Silent_p.R319R|PRKD1_ENST00000551644.1_5'UTR NM_002742.2 NP_002733.2 Q15139 KPCD1_HUMAN protein kinase D1 311 cell proliferation|intracellular signal transduction|sphingolipid metabolic process cytosol|integral to plasma membrane ATP binding|metal ion binding|protein binding|protein kinase C activity NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 78 Hepatocellular(127;0.0604) LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252) GBM - Glioblastoma multiforme(265;0.00888) TCGGTGCACAACGTTTATGGC 0.373000 23 90 0 0 1 0 0 QARS 5859 broad.mit.edu 37 3 49139697 49139697 + Splice_Site SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:49139697A>G ENST00000306125.6 - 7 909 c.570_splice c.e7-1 p.V191_splice QARS_ENST00000420147.2_Splice_Site_p.V209_splice|QARS_ENST00000470225.1_5'UTR|QARS_ENST00000414533.1_Splice_Site_p.V180_splice P47897 SYQ_HUMAN glutaminyl-tRNA synthetase 191 glutaminyl-tRNA aminoacylation cytosol|mitochondrial matrix ATP binding|glutamine-tRNA ligase activity|protein binding breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) L-Glutamine(DB00130) AGCTTTTGCCACCTGAAAGAA 0.517000 103 330 0 0 1 0 0 FZD6 8323 broad.mit.edu 37 8 104341955 104341955 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:104341955A>G ENST00000358755.4 + 6 1931 c.1614A>G c.(1612-1614)aaA>aaG p.K538K FZD6_ENST00000523739.1_Silent_p.K506K|FZD6_ENST00000540287.1_Silent_p.K233K|FZD6_ENST00000522566.1_Silent_p.K538K NM_001164616.1|NM_003506.3 NP_001158088.1|NP_003497.2 O60353 FZD6_HUMAN frizzled family receptor 6 538 angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 24 OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197) CTAAAGTTAAACACAAAAAGA 0.378000 13 66 0 0 1 0 0 TDRD6 221400 broad.mit.edu 37 6 46659966 46659966 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:46659966T>C ENST00000544460.1 + 1 4355 c.4101T>C c.(4099-4101)aaT>aaC p.N1367N TDRD6_ENST00000316081.6_Silent_p.N1367N NM_001168359.1 NP_001161831.1 O60522 TDRD6_HUMAN tudor domain containing 6 1367 Tudor 6. cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 Lung(136;0.192) CAGAAGATAATTTATGGTATC 0.378000 88 209 0 0 1 0 0 C1orf87 127795 broad.mit.edu 37 1 60503711 60503711 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:60503711T>C ENST00000371201.3 - 6 923 c.816A>G c.(814-816)gcA>gcG p.A272A C1orf87_ENST00000450089.2_Intron NM_152377.2 NP_689590.1 Q8N0U7 CA087_HUMAN chromosome 1 open reading frame 87 272 calcium ion binding breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 GGTCTGCAGCTGCTTTATTTT 0.388000 16 29 0 0 1 0 0 HELZ2 85441 broad.mit.edu 37 20 62191955 62191955 + Silent SNP G G A rs141657913 byFrequency TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:62191955G>A ENST00000467148.1 - 16 7446 c.7377C>T c.(7375-7377)caC>caT p.H2459H HELZ2_ENST00000427522.2_Silent_p.H1890H NM_001037335.2 NP_001032412.2 helicase with zinc finger 2, transcriptional coactivator CCTTGCCAGCGTGGCCCAGGA 0.632000 43 116 0 0 1 0 0 CELSR1 9620 broad.mit.edu 37 22 46929670 46929670 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr22:46929670T>C ENST00000262738.3 - 1 3397 c.3398A>G c.(3397-3399)gAc>gGc p.D1133G CELSR1_ENST00000497509.1_5'UTR|CELSR1_ENST00000395964.1_Missense_Mutation_p.D1133G NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 1133 Cadherin 9. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) GTCTGACACGTCGGGGTCATG 0.622000 10 168 0 0 1 0 0 UNC13A 23025 broad.mit.edu 37 19 17758091 17758091 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:17758091G>A ENST00000428389.2 - 18 2290 c.2291C>T c.(2290-2292)gCc>gTc p.A764V UNC13A_ENST00000552293.1_Missense_Mutation_p.A676V|UNC13A_ENST00000519716.2_Missense_Mutation_p.A676V|UNC13A_ENST00000551649.1_Missense_Mutation_p.A676V|UNC13A_ENST00000252773.7_Missense_Mutation_p.A676V|UNC13A_ENST00000550896.1_Missense_Mutation_p.A674V Q9UPW8 UN13A_HUMAN unc-13 homolog A (C. elegans) 676 C2 2. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2) 61 GCTGATCTTGGCGGACCACTT 0.647000 6 9 0 0 1 0 0 EPHX4 253152 broad.mit.edu 37 1 92518158 92518158 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:92518158T>C ENST00000370383.4 + 6 898 c.800T>C c.(799-801)gTc>gCc p.V267A NM_173567.4 NP_775838.3 Q8IUS5 EPHX4_HUMAN epoxide hydrolase 4 267 integral to membrane hydrolase activity central_nervous_system(1)|large_intestine(3)|lung(8) 12 TATATTTATGTCTTTTCTCAG 0.328000 11 23 0 0 1 0 0 NYAP2 57624 broad.mit.edu 37 2 226446754 226446754 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:226446754C>T ENST00000272907.6 + 4 1034 c.621C>T c.(619-621)ttC>ttT p.F207F NYAP2_ENST00000409269.2_Intron NM_020864.1 NP_065915.1 Q9P242 K1486_HUMAN neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 207 GCACATCTTTCGATGAAACGT 0.567000 65 225 0 0 1 0 0 CLEC4F 165530 broad.mit.edu 37 2 71036435 71036435 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:71036435T>C ENST00000272367.2 - 7 1814 c.1738A>G c.(1738-1740)Acc>Gcc p.T580A CLEC4F_ENST00000426626.1_Intron NM_001258027.1|NM_173535.2 NP_001244956.1|NP_775806.2 Q8N1N0 CLC4F_HUMAN C-type lectin domain family 4, member F 580 C-type lectin. endocytosis integral to membrane receptor activity|sugar binding endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2) 37 CAGGGAGGGGTGTCTATGAAG 0.542000 16 30 0 0 1 0 0 PIK3R2 5296 broad.mit.edu 37 19 18279334 18279334 + Missense_Mutation SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:18279334G>T ENST00000593731.1 + 14 2346 c.1786G>T c.(1786-1788)Ggg>Tgg p.G596W PIK3R2_ENST00000222254.7_Missense_Mutation_p.G596W O00459 P85B_HUMAN phosphoinositide-3-kinase, regulatory subunit 2 (beta) 596 fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway phosphatidylinositol 3-kinase complex GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1) 24 cgagtggctggggattaaaaa 0.572000 OREG0025359 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 24 5.18039e-06 5.29904e-06 1 1 0 ASH2L 9070 broad.mit.edu 37 8 37967961 37967961 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:37967961A>G ENST00000343823.6 + 4 775 c.466A>G c.(466-468)Acc>Gcc p.T156A ASH2L_ENST00000250635.7_Missense_Mutation_p.T62A|ASH2L_ENST00000545394.1_Missense_Mutation_p.T17A|ASH2L_ENST00000428278.2_Missense_Mutation_p.T62A|ASH2L_ENST00000521652.1_Missense_Mutation_p.T62A NM_004674.4 NP_004665.2 Q9UBL3 ASH2L_HUMAN ash2 (absent, small, or homeotic)-like (Drosophila) 156 hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter Set1C/COMPASS complex metal ion binding|protein binding|transcription regulatory region DNA binding NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1) 19 Colorectal(12;0.000501) Lung NSC(58;0.0295)|all_lung(54;0.0413) CAGTGGGAATACCTATTTCCT 0.423000 21 81 0 0 1 0 0 COG7 91949 broad.mit.edu 37 16 23453903 23453903 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:23453903T>C ENST00000307149.5 - 4 684 c.499A>G c.(499-501)Aca>Gca p.T167A NM_153603.3 NP_705831.1 P83436 COG7_HUMAN component of oligomeric golgi complex 7 167 intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|Golgi transport complex protein binding breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1) 27 GBM - Glioblastoma multiforme(48;0.0401) TAGTCTGGTGTATCAACAAGC 0.443000 10 107 0 0 1 0 0 IRS2 8660 broad.mit.edu 37 13 110436629 110436629 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr13:110436629G>A ENST00000375856.3 - 1 2286 c.1772C>T c.(1771-1773)tCc>tTc p.S591F NM_003749.2 NP_003740.2 Q9Y4H2 IRS2_HUMAN insulin receptor substrate 2 591 fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus cytosol|plasma membrane insulin receptor binding|signal transducer activity kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 19 all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155) Breast(118;0.159) all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147) CGAGGCAGAGGAGGGCTGGGG 0.736000 8 24 0 0 1 0 0 ADAM19 8728 broad.mit.edu 37 5 156957825 156957825 + Nonsense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:156957825G>A ENST00000257527.4 - 5 475 c.397C>T c.(397-399)Cga>Tga p.R133* ADAM19_ENST00000394020.1_Nonsense_Mutation_p.R135*|ADAM19_ENST00000517905.1_Nonsense_Mutation_p.R133*|ADAM19_ENST00000430702.2_5'UTR NM_033274.3 NP_150377.1 Q9H013 ADA19_HUMAN ADAM metallopeptidase domain 19 133 R -> Q (in a colorectal cancer sample; somatic mutation). proteolysis integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 Renal(175;0.00488) Medulloblastoma(196;0.0359)|all_neural(177;0.14) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CTAATTCCTCGGCAAGTGCTG 0.557000 23 49 0 0 1 0 0 CD244 51744 broad.mit.edu 37 1 160803891 160803891 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:160803891A>G ENST00000368034.4 - 7 1087 c.910T>C c.(910-912)Tca>Cca p.S304P CD244_ENST00000481677.1_5'UTR|CD244_ENST00000368033.3_Missense_Mutation_p.S309P|CD244_ENST00000322302.7_Missense_Mutation_p.S212P|CD244_ENST00000368032.2_Missense_Mutation_p.S304P NM_001166663.1|NM_001166664.1|NM_016382.3 NP_001160135.1|NP_001160136.1|NP_057466.1 Q9BZW8 CD244_HUMAN CD244 molecule, natural killer cell receptor 2B4 309 blood coagulation|leukocyte migration integral to membrane|plasma membrane protein binding|receptor activity central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1) 18 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) GGTTCTTGTGACGTGGGAGCA 0.428000 11 58 0 0 1 0 0 EBF2 64641 broad.mit.edu 37 8 25715941 25715941 + Silent SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:25715941G>T ENST00000520164.1 - 14 1959 c.1422C>A c.(1420-1422)acC>acA p.T474T EBF2_ENST00000408929.3_Silent_p.T326T|EBF2_ENST00000535548.1_Silent_p.T205T NM_022659.3 NP_073150.2 Q9HAK2 COE2_HUMAN early B-cell factor 2 474 Pro/Ser/Thr-rich. multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 39 all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845) UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738) TGTTGCTGGAGGTACTGTAAT 0.517000 9 135 0.000442599 0.000448264 1 1 0 KRT77 374454 broad.mit.edu 37 12 53097133 53097133 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:53097133C>T ENST00000341809.3 - 1 114 c.86G>A c.(85-87)gGt>gAt p.G29D KRT77_ENST00000537195.1_De_novo_Start_InFrame NM_175078.2 NP_778253.2 Q7Z794 K2C1B_HUMAN keratin 77 29 Head. keratin filament structural molecule activity NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 25 CGGACTCCCACCACCAGAGCC 0.542000 20 73 0 0 1 0 0 POTEA 340441 broad.mit.edu 37 8 43173691 43173691 + RNA SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:43173691A>T ENST00000522175.2 + 0 977 Q6S8J7 POTEA_HUMAN POTE ankyrin domain family, member A breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 GTGATGGTGGATTAGTTCCAC 0.413000 13 154 0 0 1 0 0 ACTN2 88 broad.mit.edu 37 1 236881176 236881176 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:236881176A>G ENST00000366578.4 + 2 311 c.145A>G c.(145-147)Aac>Gac p.N49D ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000542672.1_Missense_Mutation_p.N49D NM_001103.2|NM_001278343.1 NP_001094.1|NP_001265272.1 P35609 ACTN2_HUMAN actinin, alpha 2 49 Actin-binding.|CH 1. focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3) 86 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) TGCCTGGTGTAACTCCCACCT 0.493000 14 30 0 0 1 0 0 CHMP2B 25978 broad.mit.edu 37 3 87302561 87302561 + Missense_Mutation SNP T T A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:87302561T>A ENST00000263780.4 + 5 670 c.432T>A c.(430-432)gaT>gaA p.D144E CHMP2B_ENST00000494980.1_Missense_Mutation_p.D114E|CHMP2B_ENST00000471660.1_Missense_Mutation_p.D103E|CHMP2B_ENST00000472024.1_3'UTR NM_014043.3 NP_054762.2 Q9UQN3 CHM2B_HUMAN charged multivesicular body protein 2B 144 cellular membrane organization|endosome transport|protein transport cytosol|late endosome membrane|mitochondrion|nucleus protein domain specific binding NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)|skin(2) 12 all_cancers(8;0.104)|Lung SC(3;0.184) Lung NSC(201;0.0777) LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712) TAGTCAATGATACACTTGATG 0.368000 14 40 0 0 1 0 0 VPS18 57617 broad.mit.edu 37 15 41195445 41195445 + Missense_Mutation SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:41195445A>T ENST00000220509.5 + 5 3167 c.2828A>T c.(2827-2829)gAg>gTg p.E943V NM_020857.2 NP_065908.1 Q9P253 VPS18_HUMAN vacuolar protein sorting 18 homolog (S. cerevisiae) 943 endosome organization|lysosome organization|protein transport HOPS complex|late endosome membrane|lysosomal membrane metal ion binding|protein binding autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 28 all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164) GTGGCCGCTGAGTGTGTGTAC 0.657000 11 23 0 0 1 0 0 FAM84B 157638 broad.mit.edu 37 8 127569449 127569449 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:127569449A>G ENST00000304916.3 - 2 641 c.186T>C c.(184-186)ggT>ggC p.G62G RP11-103H7.5_ENST00000524320.1_RNA NM_174911.4 NP_777571.1 Q96KN1 FA84B_HUMAN family with sequence similarity 84, member B 62 Pro-rich. cytoplasm|plasma membrane protein binding lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 5 Ovarian(5;9.43e-05)|Esophageal squamous(12;0.0012)|Hepatocellular(40;0.128)|Myeloproliferative disorder(2;0.135) STAD - Stomach adenocarcinoma(47;0.000556)|Colorectal(2;0.0102)|Lung(2;0.0136)|READ - Rectum adenocarcinoma(2;0.0723) GCCCGTCCCCACCGTCGGGCA 0.677000 8 25 0 0 1 0 0 PSG5 5673 broad.mit.edu 37 19 43690520 43690520 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:43690520A>G ENST00000404580.1 - 1 126 c.38T>C c.(37-39)aTc>aCc p.I13T PSG5_ENST00000401992.1_5'UTR|PSG5_ENST00000599812.1_Missense_Mutation_p.I13T|PSG5_ENST00000407356.1_Missense_Mutation_p.I13T|PSG5_ENST00000366175.3_Missense_Mutation_p.I13T|PSG5_ENST00000407568.1_Missense_Mutation_p.I13T|PSG5_ENST00000342951.6_Missense_Mutation_p.I13T Q15238 PSG5_HUMAN pregnancy specific beta-1-glycoprotein 5 13 female pregnancy extracellular region breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(69;0.00899) CTTCCAGGTGATGTGCTGTGT 0.597000 57 160 0 0 1 0 0 HOXC12 3228 broad.mit.edu 37 12 54348916 54348916 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:54348916A>G ENST00000243103.3 + 1 299 c.203A>G c.(202-204)tAc>tGc p.Y68C NM_173860.1 NP_776272.1 P31275 HXC12_HUMAN homeobox C12 68 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(3)|lung(8)|upper_aerodigestive_tract(1) 12 CCGCAGCCCTACCTCGGCAGC 0.701000 6 31 0 0 1 0 0 RASGRF2 5924 broad.mit.edu 37 5 80382759 80382759 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:80382759G>A ENST00000265080.4 + 9 1444 c.1377G>A c.(1375-1377)acG>acA p.T459T RASGRF2_ENST00000502677.1_3'UTR NM_006909.2 NP_008840.1 O14827 RGRF2_HUMAN Ras protein-specific guanine nucleotide-releasing factor 2 459 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane protein binding|Rho guanyl-nucleotide exchange factor activity biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) CCAGCCAAACGTTCATCCGCC 0.537000 30 87 0 0 1 0 0 MAGEA8 4107 broad.mit.edu 37 X 149013786 149013786 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chrX:149013786A>G ENST00000535454.1 + 4 1289 c.740A>G c.(739-741)aAg>aGg p.K247R MAGEA8_ENST00000542674.1_Missense_Mutation_p.K247R|MAGEA8_ENST00000286482.1_Missense_Mutation_p.K247R NM_001166400.1 NP_001159872.1 P43361 MAGA8_HUMAN melanoma antigen family A, 8 247 MAGE. NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1) 20 Acute lymphoblastic leukemia(192;6.56e-05) AAGCTCAGGAAGCTGCTCACC 0.617000 4 128 0 0 1 0 0 GIMAP8 155038 broad.mit.edu 37 7 150171146 150171146 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:150171146G>A ENST00000307271.3 + 4 1303 c.729G>A c.(727-729)ccG>ccA p.P243P NM_175571.2 NP_783161.1 Q8ND71 GIMA8_HUMAN GTPase, IMAP family member 8 243 endoplasmic reticulum|Golgi apparatus|mitochondrion GTP binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) AGCAGAATCCGGGGACATCAG 0.552000 56 129 0 0 1 0 0 UGT1A1 54658 broad.mit.edu 37 2 234669627 234669627 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:234669627A>G ENST00000360418.3 + 1 694 c.694A>G c.(694-696)Acc>Gcc p.T232A UGT1A5_ENST00000373414.3_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A1_ENST00000305208.5_Missense_Mutation_p.T232A P22309 UD11_HUMAN 232 bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process endoplasmic reticulum membrane|microsome enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2) 30 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054) Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197) CCCGTATGCAACCCTTGCCTC 0.483000 20 188 0 0 1 0 0 DDX3Y 8653 broad.mit.edu 37 Y 15016853 15016853 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chrY:15016853T>C ENST00000336079.3 + 1 112 c.6T>C c.(4-6)agT>agC p.S2S DDX3Y_ENST00000360160.4_Silent_p.S2S NM_001122665.1|NM_004660.3 NP_001116137.1|NP_004651.2 O15523 DDX3Y_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 3, Y-linked 2 cytoplasm|nucleus ATP binding|ATP-dependent helicase activity|DNA binding|RNA binding kidney(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1) 5 CAGGGATGAGTCATGTGGTGG 0.507000 31 26 0 0 1 0 0 ARFGEF1 10565 broad.mit.edu 37 8 68179674 68179674 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:68179674A>G ENST00000262215.3 - 11 1965 c.1576T>C c.(1576-1578)Ttc>Ctc p.F526L ARFGEF1_ENST00000520381.1_5'UTR NM_006421.4 NP_006412.2 Q9Y6D6 BIG1_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) 526 exocytosis|regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity|myosin binding breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206) TCTTTAAAGAACACCTGTGAT 0.333000 24 60 0 0 1 0 0 CACNA1I 8911 broad.mit.edu 37 22 40054250 40054250 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr22:40054250C>T ENST00000336649.4 + 14 2104 c.2104C>T c.(2104-2106)Ctc>Ttc p.L702F CACNA1I_ENST00000402142.3_Missense_Mutation_p.L696F|CACNA1I_ENST00000401624.1_Missense_Mutation_p.L696F|CACNA1I_ENST00000400164.3_Missense_Mutation_p.L661F|CACNA1I_ENST00000404898.1_Missense_Mutation_p.L661F|CACNA1I_ENST00000407673.1_Missense_Mutation_p.L661F Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, alpha 1I subunit 696 axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) TGCATTTGGGCTCTTCGACTA 0.572000 32 86 0 0 1 0 0 VDR 7421 broad.mit.edu 37 12 48238538 48238538 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:48238538C>T ENST00000229022.3 - 11 1556 c.1275G>A c.(1273-1275)gaG>gaA p.E425E VDR_ENST00000549336.1_Silent_p.E425E|VDR_ENST00000535672.1_Silent_p.E393E|VDR_ENST00000550325.1_Silent_p.E475E|VDR_ENST00000395324.2_Silent_p.E425E NM_001017535.1 NP_001017535.1 P11473 VDR_HUMAN vitamin D (1,25- dihydroxyvitamin D3) receptor 425 Ligand-binding. decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2) 22 Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214) GBM - Glioblastoma multiforme(48;0.17) Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910) GTCAGGAGATCTCATTGCCAA 0.637000 6 105 0 0 1 0 0 CD97 976 broad.mit.edu 37 19 14517264 14517264 + Missense_Mutation SNP A A C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:14517264A>C ENST00000242786.5 + 15 2023 c.1943A>C c.(1942-1944)cAg>cCg p.Q648P CTC-548K16.5_ENST00000590626.1_RNA|CD97_ENST00000357355.3_Missense_Mutation_p.Q599P|CD97_ENST00000358600.3_Missense_Mutation_p.Q555P NM_078481.3 NP_510966.1 P48960 CD97_HUMAN CD97 molecule 648 cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway extracellular space|integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 TTCCAAGGCCAGGGCCTGAGT 0.652000 OREG0025312 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 11 0 0 1 0 0 KCNK15 60598 broad.mit.edu 37 20 43378792 43378792 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:43378792T>C ENST00000372861.3 + 2 437 c.306T>C c.(304-306)ggT>ggC p.G102G NM_022358.3 NP_071753.2 Q9H427 KCNKF_HUMAN potassium channel, subfamily K, member 15 102 integral to membrane potassium channel activity|voltage-gated ion channel activity NS(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2) 10 Myeloproliferative disorder(115;0.0122) CCGCGCCGGGTACGGACTCCG 0.682000 13 44 0 0 1 0 0 SNX13 23161 broad.mit.edu 37 7 17930068 17930068 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:17930068A>G ENST00000409389.1 - 5 530 c.358T>C c.(358-360)Tat>Cat p.Y120H SNX13_ENST00000428135.3_Missense_Mutation_p.Y120H|SNX13_ENST00000409604.1_Missense_Mutation_p.Y120H Q9Y5W8 SNX13_HUMAN sorting nexin 13 120 PXA. cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity early endosome membrane phosphatidylinositol binding|signal transducer activity breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 38 Lung NSC(10;0.0261)|all_lung(11;0.0521) AGTGTATAATACCAATACTGG 0.328000 17 61 0 0 1 0 0 RXRB 6257 broad.mit.edu 37 6 33168031 33168031 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:33168031C>T ENST00000374680.3 - 1 434 c.223G>A c.(223-225)Gac>Aac p.D75N RXRB_ENST00000544186.1_Intron|RXRB_ENST00000374685.4_Missense_Mutation_p.D75N|RXRB_ENST00000413614.2_Silent_p.A61A NM_001270401.1|NM_021976.4 NP_001257330.1|NP_068811.1 P28702 RXRB_HUMAN retinoid X receptor, beta 75 Modulating (By similarity).|Pro-rich. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2) 15 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755) CGCCCGCTGTCGCCCATCCCG 0.716000 12 18 0 0 1 0 0 ZNF398 57541 broad.mit.edu 37 7 148876542 148876542 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:148876542G>A ENST00000420008.2 + 6 1853 c.1065G>A c.(1063-1065)ctG>ctA p.L355L ZNF398_ENST00000475153.1_Silent_p.L526L|ZNF398_ENST00000426851.2_Silent_p.L355L|ZNF398_ENST00000483892.1_Silent_p.L355L|ZNF398_ENST00000335901.4_Silent_p.L355L|ZNF398_ENST00000540950.1_Silent_p.L531L|ZNF398_ENST00000491174.1_Silent_p.L355L NM_170686.2 NP_733787.1 Q8TD17 ZN398_HUMAN zinc finger protein 398 526 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1) 25 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00143) AGGAGCACCTGCTGAACCACC 0.607000 36 111 0 0 1 0 0 CDR2 1039 broad.mit.edu 37 16 22385621 22385621 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:22385621C>T ENST00000268383.2 - 1 317 c.10G>A c.(10-12)Gaa>Aaa p.E4K CDR2_ENST00000569045.1_Intron NM_001802.1 NP_001793.1 Q01850 CDR2_HUMAN cerebellar degeneration-related protein 2, 62kDa 4 nucleus protein binding endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1) 11 GBM - Glioblastoma multiforme(48;0.0188) ACCAGGTTTTCCGCCAGCATC 0.731000 38 97 0 0 1 0 0 SH3TC2 79628 broad.mit.edu 37 5 148431758 148431758 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:148431758A>G ENST00000515425.1 - 2 199 c.98T>C c.(97-99)aTa>aCa p.I33T SH3TC2_ENST00000394358.2_5'UTR|SH3TC2_ENST00000512049.1_Missense_Mutation_p.I33T NM_024577.3 NP_078853.2 Q8TF17 S3TC2_HUMAN SH3 domain and tetratricopeptide repeats 2 33 binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 39 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGATGAGGCTATACACTCACT 0.388000 4 172 0 0 1 0 0 SLC6A9 6536 broad.mit.edu 37 1 44467254 44467254 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:44467254A>G ENST00000372310.3 - 9 1173 c.1008T>C c.(1006-1008)taT>taC p.Y336Y SLC6A9_ENST00000372306.3_Silent_p.Y336Y|SLC6A9_ENST00000360584.2_Silent_p.Y409Y|SLC6A9_ENST00000475075.2_Silent_p.Y225Y|SLC6A9_ENST00000372307.3_Silent_p.Y271Y|SLC6A9_ENST00000537678.1_Silent_p.Y271Y|SLC6A9_ENST00000357730.2_Silent_p.Y355Y NM_001024845.2 NP_001020016.1 P48067 SC6A9_HUMAN solute carrier family 6 (neurotransmitter transporter, glycine), member 9 409 integral to plasma membrane|membrane fraction glycine:sodium symporter activity|neurotransmitter:sodium symporter activity endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2) 22 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) Glycine(DB00145) CGAAGCCAGCATAGACGCTGG 0.587000 6 290 0 0 1 0 0 TERF1 7013 broad.mit.edu 37 8 73937154 73937154 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:73937154A>G ENST00000276602.6 + 5 745 c.722A>G c.(721-723)aAg>aGg p.K241R TERF1_ENST00000276603.5_Missense_Mutation_p.K241R NM_003218.3 NP_003209.2 P54274 TERF1_HUMAN telomeric repeat binding factor (NIMA-interacting) 1 241 TRFH dimerization. age-dependent telomere shortening|cell division|G2/M transition of mitotic cell cycle|induction of apoptosis|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of telomere maintenance via semi-conservative replication|negative regulation of telomere maintenance via telomerase|positive regulation of microtubule polymerization|positive regulation of mitosis|positive regulation of mitotic cell cycle|protein homooligomerization|regulation of transcription, DNA-dependent|telomere maintenance via telomerase|telomere maintenance via telomere shortening chromosome, telomeric region|cytoplasm|nuclear telomere cap complex|nucleoplasm|nucleus|spindle caspase activator activity|DNA bending activity|double-stranded telomeric DNA binding|identical protein binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|telomerase inhibitor activity|telomeric DNA binding central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 9 Breast(64;0.218) Epithelial(68;0.0984) GAGAAAATTAAGAGTTATGTG 0.303000 4 40 0 0 1 0 0 NT5DC2 64943 broad.mit.edu 37 3 52562241 52562241 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:52562241G>A ENST00000307076.4 - 6 1018 c.618C>T c.(616-618)caC>caT p.H206H NT5DC2_ENST00000307092.4_Silent_p.H147H|NT5DC2_ENST00000422318.2_Silent_p.H243H|NT5DC2_ENST00000459839.1_Silent_p.H218H NM_022908.2 NP_075059.1 Q9H857 NT5D2_HUMAN 5'-nucleotidase domain containing 2 206 hydrolase activity|metal ion binding endometrium(1)|lung(3)|prostate(1)|stomach(1) 6 BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476) ACTCCAGGCTGTGGCCCAGAA 0.587000 30 78 0 0 1 0 0 TNFRSF11B 4982 broad.mit.edu 37 8 119945255 119945255 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:119945255G>A ENST00000297350.4 - 2 693 c.315C>T c.(313-315)tgC>tgT p.C105C NM_002546.3 NP_002537.3 O00300 TR11B_HUMAN tumor necrosis factor receptor superfamily, member 11b 105 apoptosis|skeletal system development cytokine activity|receptor activity breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1) 25 all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234) STAD - Stomach adenocarcinoma(47;0.00193) CCTTGCATTCGCACACGCGGT 0.552000 19 70 0 0 1 0 0 ZNF879 345462 broad.mit.edu 37 5 178454545 178454545 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:178454545G>A ENST00000519896.1 + 3 275 c.139G>A c.(139-141)Gag>Aag p.E47K ZNF879_ENST00000444149.2_Silent_p.Q35Q B4DU55 ZN879_HUMAN zinc finger protein 879 184 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|pancreas(1)|stomach(1) 7 ACTCTGCCCAGAGAGCCTTGT 0.562000 18 30 0 0 1 0 0 SPATA31D5P 347127 broad.mit.edu 37 9 84531732 84531732 + RNA SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:84531732T>C ENST00000527857.1 + 0 1754 NR_026851.1 TGCCCAGAGGTCAGTCCCCAC 0.517000 18 52 0 0 1 0 0 OR4C16 219428 broad.mit.edu 37 11 55339883 55339883 + Missense_Mutation SNP G G A rs150706012 by1000genomes TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:55339883G>A ENST00000314634.3 + 1 280 c.280G>A c.(280-282)Gag>Aag p.E94K NM_001004701.2 NP_001004701.2 Q8NGL9 OR4CG_HUMAN olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene) 94 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.E94K(1) central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 41 all_epithelial(135;0.0748) CTCCTTCAGCGAGTGCATGAT 0.458000 48 209 0 0 1 0 0 TSNARE1 203062 broad.mit.edu 37 8 143425546 143425546 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:143425546A>G ENST00000524325.1 - 4 701 c.526T>C c.(526-528)Tac>Cac p.Y176H TSNARE1_ENST00000519651.1_Intron|TSNARE1_ENST00000520166.1_Missense_Mutation_p.Y176H|TSNARE1_ENST00000307180.3_Missense_Mutation_p.Y176H Q96NA8 TSNA1_HUMAN t-SNARE domain containing 1 176 vesicle-mediated transport integral to membrane breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1) 20 all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) CGGCGACAGTAGCCCAGCGCA 0.692000 16 149 0 0 1 0 0 MYO5A 4644 broad.mit.edu 37 15 52672031 52672031 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:52672031C>T ENST00000399231.3 - 17 2330 c.2087G>A c.(2086-2088)gGt>gAt p.G696D MYO5A_ENST00000553916.1_Missense_Mutation_p.G696D|MYO5A_ENST00000356338.6_Missense_Mutation_p.G696D|MYO5A_ENST00000399233.2_Missense_Mutation_p.G696D|MYO5A_ENST00000358212.6_Missense_Mutation_p.G696D NM_000259.3 NP_000250.3 Q9Y4I1 MYO5A_HUMAN myosin VA (heavy chain 12, myoxin) 696 Myosin head-like. actin filament-based movement|transport cytoplasm|growth cone|myosin complex|ruffle actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1) 57 all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196) TGAGGGGAAACCGGCCGCACT 0.448000 18 136 0 0 1 0 0 USP28 57646 broad.mit.edu 37 11 113673937 113673937 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:113673937C>T ENST00000003302.4 - 23 2873 c.2805G>A c.(2803-2805)ggG>ggA p.G935G USP28_ENST00000545540.1_Silent_p.G778G|USP28_ENST00000260188.5_Silent_p.G903G|USP28_ENST00000544967.1_Silent_p.G611G NM_020886.2 NP_065937.1 Q96RU2 UBP28_HUMAN ubiquitin specific peptidase 28 935 cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process nucleolus|nucleoplasm protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104) CCCGGCGGGGCCCCTTCATCA 0.458000 7 144 0 0 1 0 0 ANPEP 290 broad.mit.edu 37 15 90346715 90346715 + Silent SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:90346715G>T ENST00000300060.6 - 9 1774 c.1461C>A c.(1459-1461)ctC>ctA p.L487L NM_001150.2 NP_001141.2 P15144 AMPN_HUMAN alanyl (membrane) aminopeptidase 487 Metalloprotease. angiogenesis|cell differentiation|interspecies interaction between organisms cytosol|ER-Golgi intermediate compartment|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 57 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169) Ezetimibe(DB00973) ggaagctGGAGAGCATCCTGA 0.667000 6 11 5.9392e-07 6.09457e-07 1 1 0 CDC42BPG 55561 broad.mit.edu 37 11 64599131 64599131 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:64599131G>A ENST00000342711.5 - 28 3149 c.3150C>T c.(3148-3150)agC>agT p.S1050S CDC42BPG_ENST00000491280.1_5'UTR NM_017525.2 NP_059995.2 Q6DT37 MRCKG_HUMAN CDC42 binding protein kinase gamma (DMPK-like) 1050 PH. actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|centrosome ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity central_nervous_system(1)|lung(3) 4 GCTCCCCCTCGCTCTCTGCCA 0.697000 OREG0004016 type=REGULATORY REGION|Gene=CDC42BPG|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 9 16 0 0 1 0 0 KAT6A 7994 broad.mit.edu 37 8 41798870 41798870 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:41798870A>G ENST00000396930.3 - 16 3072 c.2529T>C c.(2527-2529)tcT>tcC p.S843S KAT6A_ENST00000406337.1_Silent_p.S843S|KAT6A_ENST00000265713.2_Silent_p.S843S NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 843 histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding TCAAACGTGTAGAACTGACTG 0.453000 23 77 0 0 1 0 0 GCN1L1 10985 broad.mit.edu 37 12 120594296 120594296 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:120594296G>A ENST00000300648.6 - 28 3293 c.3281C>T c.(3280-3282)cCg>cTg p.P1094L NM_006836.1 NP_006827.1 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1-like 1 (yeast) 1094 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GCTGGCACACGGGGACTGCAA 0.597000 5 85 0 0 1 0 0 ARHGAP1 392 broad.mit.edu 37 11 46700995 46700995 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:46700995G>A ENST00000311956.4 - 12 1148 c.1051C>T c.(1051-1053)Cca>Tca p.P351S NM_004308.2 NP_004299.1 Q07960 RHG01_HUMAN Rho GTPase activating protein 1 351 Rho-GAP. Rho protein signal transduction cytosol|intracellular membrane-bounded organelle SH3 domain binding|SH3/SH2 adaptor activity endometrium(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 11 Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11) GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153) AGTGTCGCTGGCACCCTCTGG 0.597000 23 65 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9073349 9073349 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:9073349T>C ENST00000397910.4 - 3 14300 c.14097A>G c.(14095-14097)tcA>tcG p.S4699S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 4701 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TTTCCAAGGTTGATGTGTCTA 0.478000 19 207 0 0 1 0 0 ACTL7A 10881 broad.mit.edu 37 9 111625709 111625709 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:111625709C>T ENST00000333999.3 + 1 1107 c.1107C>T c.(1105-1107)ggC>ggT p.G369G NM_006687.2 NP_006678.1 Q9Y615 ACL7A_HUMAN actin-like 7A 369 cytoplasm|cytoskeleton|protein complex structural constituent of cytoskeleton breast(1)|endometrium(2)|large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 TGCTCAGTGGCTTCCCTAACC 0.582000 6 105 0 0 1 0 0 KBTBD8 84541 broad.mit.edu 37 3 67058494 67058494 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:67058494T>C ENST00000295568.4 + 4 1544 c.1413T>C c.(1411-1413)ttT>ttC p.F471F KBTBD8_ENST00000460576.1_Silent_p.F55F|KBTBD8_ENST00000417314.2_Silent_p.F497F NM_032505.2 NP_115894.2 Q8NFY9 KBTB8_HUMAN kelch repeat and BTB (POZ) domain containing 8 497 breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1) 20 Lung NSC(201;0.0765) BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125) AACGTATGTTTACTGTAGAAG 0.403000 16 115 0 0 1 0 0 MT1A 4489 broad.mit.edu 37 16 56672672 56672672 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:56672672G>A ENST00000290705.8 + 1 95 c.22G>A c.(22-24)Gcc>Acc p.A8T NM_005946.2 NP_005937.2 P04731 MT1A_HUMAN metallothionein 1A 8 Beta. cytoplasm cadmium ion binding|copper ion binding|zinc ion binding endometrium(1)|large_intestine(1)|lung(1) 3 CTGCTCCTGCGCCACTGGTAA 0.537000 39 143 0 0 1 0 0 NCOR1 9611 broad.mit.edu 37 17 15935734 15935734 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:15935734G>A ENST00000268712.3 - 46 7456 c.7199C>T c.(7198-7200)cCg>cTg p.P2400L NCOR1_ENST00000395851.1_Missense_Mutation_p.P2297L|NCOR1_ENST00000395857.3_Missense_Mutation_p.P984L NM_006311.3 NP_006302.2 O75376 NCOR1_HUMAN nuclear receptor corepressor 1 2400 Interaction with C1D (By similarity). cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10) 107 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) ACATGCAATCGGTGTTGGTGG 0.507000 4 136 0 0 1 0 0 ANKRD30B 374860 broad.mit.edu 37 18 14763990 14763990 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr18:14763990G>A ENST00000358984.4 + 7 1306 c.1126G>A c.(1126-1128)Gca>Aca p.A376T ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Missense_Mutation_p.A376T NM_001145029.1 NP_001138501.1 Q9BXX2 AN30B_HUMAN ankyrin repeat domain 30B 376 breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1) 22 TGAATGCGTGGCAGGAGTAAC 0.353000 7 26 0 0 1 0 0 STRN3 29966 broad.mit.edu 37 14 31420119 31420119 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:31420119T>C ENST00000355683.5 - 4 707 c.492A>G c.(490-492)gcA>gcG p.A164A STRN3_ENST00000357479.5_Silent_p.A164A NM_014574.3 NP_055389.3 Q13033 STRN3_HUMAN striatin, calmodulin binding protein 3 164 negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Hepatocellular(127;0.0877)|Breast(36;0.148) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805) GBM - Glioblastoma multiforme(265;0.0124) TATTCTGAGGTGCTGTGGGAG 0.348000 24 91 0 0 1 0 0 H2AFY 9555 broad.mit.edu 37 5 134705782 134705782 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:134705782G>A ENST00000511689.1 - 3 816 c.223C>T c.(223-225)Cgg>Tgg p.R75W H2AFY_ENST00000423969.2_Intron|H2AFY_ENST00000510038.1_Missense_Mutation_p.R75W|H2AFY_ENST00000304332.4_Missense_Mutation_p.R75W|H2AFY_ENST00000312469.4_Missense_Mutation_p.R75W NM_001040158.1|NM_138610.2 NP_001035248.1|NP_613258.2 O75367 H2AY_HUMAN H2A histone family, member Y 75 Histone H2A. chromatin modification|dosage compensation|nucleosome assembly Barr body|nucleosome DNA binding endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1) 11 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GGTGTGACCCGTCCCTTCTTG 0.562000 8 28 0 0 1 0 0 POFUT1 23509 broad.mit.edu 37 20 30797914 30797914 + Silent SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:30797914G>T ENST00000375749.3 + 2 227 c.165G>T c.(163-165)ctG>ctT p.L55L POFUT1_ENST00000375730.3_Silent_p.L55L|POFUT1_ENST00000539210.1_Intron|POFUT1_ENST00000486717.1_Intron NM_015352.1 NP_056167.1 Q9H488 OFUT1_HUMAN protein O-fucosyltransferase 1 55 fucose metabolic process|Notch signaling pathway|O-glycan processing|regulation of transcription, DNA-dependent endoplasmic reticulum|membrane peptide-O-fucosyltransferase activity breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1) 6 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) TGGGCTCTCTGGCATTTGCAA 0.552000 50 154 1.07234e-20 1.13075e-20 1 1 0 ZNF761 388561 broad.mit.edu 37 19 53945669 53945669 + RNA SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:53945669G>A ENST00000454407.1 + 0 55 TPM3P9_ENST00000424846.3_RNA Q86XN6 ZN761_HUMAN zinc finger protein 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(134;0.00786) AGACAAATGTGAGGAAGAGAT 0.448000 29 66 0 0 1 0 0 PIK3C3 5289 broad.mit.edu 37 18 39617741 39617741 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr18:39617741G>A ENST00000262039.4 + 17 2011 c.1925G>A c.(1924-1926)cGt>cAt p.R642H PIK3C3_ENST00000587402.1_5'UTR|PIK3C3_ENST00000593098.1_Missense_Mutation_p.R127H|PIK3C3_ENST00000589056.1_5'UTR|PIK3C3_ENST00000398870.3_Missense_Mutation_p.R579H NM_002647.2 NP_002638.2 Q8NEB9 PK3C3_HUMAN phosphatidylinositol 3-kinase, catalytic subunit type 3 642 PI3K/PI4K. cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway midbody|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1) 49 GATGATTTACGTCAAGATCAA 0.368000 TSP Lung(28;0.18) 53 169 0 0 1 0 0 CD200R1 131450 broad.mit.edu 37 3 112648188 112648188 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:112648188A>G ENST00000471858.1 - 3 532 c.300T>C c.(298-300)tgT>tgC p.C100C CD200R1_ENST00000490004.1_Silent_p.C100C|CD200R1_ENST00000295863.4_Silent_p.C78C|CD200R1_ENST00000308611.3_Silent_p.C123C|CD200R1_ENST00000440122.2_Silent_p.C123C NM_170780.2 NP_740750.1 Q8TD46 MO2R1_HUMAN CD200 receptor 1 100 Ig-like V-type. interspecies interaction between organisms|regulation of immune response extracellular region|integral to membrane|plasma membrane receptor activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 26 TCTCATCAGTACAGTTGGTTT 0.433000 37 101 0 0 1 0 0 DCC 1630 broad.mit.edu 37 18 50918137 50918137 + Silent SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr18:50918137C>A ENST00000442544.2 + 17 3184 c.2568C>A c.(2566-2568)acC>acA p.T856T DCC_ENST00000581580.1_Silent_p.T491T|DCC_ENST00000412726.1_Silent_p.T684T NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 856 Fibronectin type-III 5. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) TGGCTCTTACCCATGATGCTG 0.527000 35 121 3.21399e-22 3.39778e-22 1 1 0 SLC18A3 6572 broad.mit.edu 37 10 50819857 50819857 + Missense_Mutation SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:50819857G>T ENST00000374115.3 + 1 1511 c.1071G>T c.(1069-1071)tgG>tgT p.W357C CHAT_ENST00000339797.1_Intron NM_003055.2 NP_003046.2 Q16572 VACHT_HUMAN solute carrier family 18 (vesicular acetylcholine transporter), member 3 357 neurotransmitter secretion clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction acetylcholine transmembrane transporter activity endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 43 ACCTGCAGTGGCTGTACGGCG 0.692000 37 108 2.19358e-23 2.3201e-23 1 1 0 DPP9 91039 broad.mit.edu 37 19 4683620 4683620 + Missense_Mutation SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:4683620G>T ENST00000262960.9 - 19 2477 c.2200C>A c.(2200-2202)Cag>Aag p.Q734K DPP9_ENST00000598800.1_Missense_Mutation_p.Q705K|AC005594.3_ENST00000381796.1_RNA|DPP9_ENST00000601173.1_5'UTR|DPP9_ENST00000594671.1_Missense_Mutation_p.Q705K NM_139159.4 NP_631898.3 Q86TI2 DPP9_HUMAN dipeptidyl-peptidase 9 705 proteolysis cytosol|membrane aminopeptidase activity|serine-type peptidase activity cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884) CCCTCCACCTGGTCCTCGATC 0.627000 4 110 0.150653 0.150988 1 1 0 TOX 9760 broad.mit.edu 37 8 59851965 59851965 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:59851965T>C ENST00000361421.1 - 3 527 c.307A>G c.(307-309)Aat>Gat p.N103D NM_014729.2 NP_055544.1 O94900 TOX_HUMAN thymocyte selection-associated high mobility group box 103 nucleus DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1) 33 all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607) AGCAGGCCATTATGGTTCATG 0.483000 24 120 0 0 1 0 0 LOXL2 4017 broad.mit.edu 37 8 23156368 23156368 + Nonsense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:23156368C>T ENST00000389131.3 - 13 2595 c.2226G>A c.(2224-2226)tgG>tgA p.W742* NM_002318.2 NP_002309.1 Q9Y4K0 LOXL2_HUMAN lysyl oxidase-like 2 742 Lysyl-oxidase like. aging|cell adhesion|protein modification process extracellular space|membrane copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(55;0.0453)|Breast(100;0.143) Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096) AGTTGTACATCCAGATGCGGT 0.542000 21 141 0 0 1 0 0 TMEM2 23670 broad.mit.edu 37 9 74360281 74360281 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:74360281T>C ENST00000377044.4 - 4 1226 c.687A>G c.(685-687)acA>acG p.T229T TMEM2_ENST00000377066.5_Silent_p.T229T NM_001135820.1|NM_013390.2 NP_001129292.1|NP_037522.1 Q9UHN6 TMEM2_HUMAN transmembrane protein 2 229 G8. integral to membrane central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2) 56 all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255) GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16) GTAACTCCAGTGTCCCGCCAG 0.473000 7 124 0 0 1 0 0 ANKRD11 29123 broad.mit.edu 37 16 89346399 89346399 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:89346399G>A ENST00000301030.4 - 9 7011 c.6551C>T c.(6550-6552)gCt>gTt p.A2184V ANKRD11_ENST00000378330.2_Missense_Mutation_p.A2184V NM_001256183.1|NM_013275.5 NP_001243112.1|NP_037407.4 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 2184 Pro-rich. nucleus breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) CGGCTCCTCAGCCACTACGGT 0.647000 10 55 0 0 1 0 0 OR1L4 254973 broad.mit.edu 37 9 125486951 125486951 + Missense_Mutation SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:125486951G>T ENST00000259466.1 + 1 683 c.683G>T c.(682-684)aGa>aTa p.R228I NM_001005235.1 NP_001005235.1 Q8NGR5 OR1L4_HUMAN olfactory receptor, family 1, subfamily L, member 4 228 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1) 20 ACTGTGCTCAGAATCCCCTCT 0.517000 57 408 8.72158e-25 9.23113e-25 1 1 0 ZFHX3 463 broad.mit.edu 37 16 72828213 72828213 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:72828213T>C ENST00000268489.5 - 9 9040 c.8368A>G c.(8368-8370)Aaa>Gaa p.K2790E ZFHX3_ENST00000397992.5_Missense_Mutation_p.K1876E NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 2790 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) TCCATGGTTTTACTCACAGGT 0.483000 9 118 0 0 1 0 0 XPNPEP1 7511 broad.mit.edu 37 10 111647813 111647813 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:111647813A>G ENST00000502935.1 - 7 765 c.646T>C c.(646-648)Tac>Cac p.Y216H XPNPEP1_ENST00000369683.1_Missense_Mutation_p.Y102H|XPNPEP1_ENST00000322238.8_Missense_Mutation_p.Y216H|XPNPEP1_ENST00000369680.4_Missense_Mutation_p.Y173H|XPNPEP1_ENST00000430337.1_5'UTR Q9NQW7 XPP1_HUMAN X-prolyl aminopeptidase (aminopeptidase P) 1, soluble 173 bradykinin catabolic process|proteolysis manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1) 31 Breast(234;0.174) Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721) TGACCTGTGTAATCCAGGCCC 0.572000 4 44 0 0 1 0 0 EZH2 2146 broad.mit.edu 37 7 148515124 148515124 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:148515124C>T ENST00000320356.2 - 10 1206 c.1085G>A c.(1084-1086)cGg>cAg p.R362Q EZH2_ENST00000476773.1_Missense_Mutation_p.R348Q|EZH2_ENST00000460911.1_Missense_Mutation_p.R357Q|EZH2_ENST00000350995.2_Missense_Mutation_p.R318Q|EZH2_ENST00000541220.1_Missense_Mutation_p.R348Q|EZH2_ENST00000483967.1_Missense_Mutation_p.R348Q|EZH2_ENST00000478654.1_Missense_Mutation_p.R348Q NM_001203247.1|NM_001203248.1|NM_004456.4 NP_001190176.1|NP_001190177.1|NP_004447.2 Q15910 EZH2_HUMAN enhancer of zeste homolog 2 (Drosophila) 357 negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex DNA binding|histone-lysine N-methyltransferase activity|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3) 359 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00239) ATTGGGAAGCCGTCCTCTTCT 0.537000 Mis DLBCL 4 137 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577514 7577514 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:7577514G>A ENST00000420246.2 - 7 899 c.767C>T c.(766-768)aCa>aTa p.T256I TP53_ENST00000359597.4_Missense_Mutation_p.T256I|TP53_ENST00000455263.2_Missense_Mutation_p.T256I|TP53_ENST00000445888.2_Missense_Mutation_p.T256I|TP53_ENST00000269305.4_Missense_Mutation_p.T256I|TP53_ENST00000413465.2_Missense_Mutation_p.T256I NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 256 Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity). T -> I (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> P (in sporadic cancers; somatic mutation).|T -> S (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(8)|p.T256I(2)|p.T256K(2)|p.?(1)|p.T256fs*8(1)|p.I254fs*7(1)|p.T256fs*90(1)|p.T256fs*89(1)|p.T256del(1)|p.R249_T256delRPILTIIT(1)|p.T256fs*87(1)|p.I254_T256del(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GTCTTCCAGTGTGATGATGGT 0.592000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 21 55 0 0 1 0 0 IGSF21 84966 broad.mit.edu 37 1 18703432 18703432 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:18703432A>G ENST00000251296.1 + 8 1623 c.1240A>G c.(1240-1242)Acc>Gcc p.T414A NM_032880.4 NP_116269.3 Q96ID5 IGS21_HUMAN immunoglobin superfamily, member 21 414 Ig-like 2. extracellular region endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 40 Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157) GTATCGCTGCACCGCCCAGAA 0.662000 7 50 0 0 1 0 0 MRPL44 65080 broad.mit.edu 37 2 224824585 224824585 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:224824585A>G ENST00000258383.3 + 2 583 c.514A>G c.(514-516)Aac>Gac p.N172D NM_022915.3 NP_075066.1 Q9H9J2 RM44_HUMAN mitochondrial ribosomal protein L44 172 RNase III. RNA processing mitochondrion|ribosome double-stranded RNA binding|protein binding|ribonuclease III activity breast(1)|central_nervous_system(1)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 13 all_lung(227;0.00679)|Lung NSC(271;0.00855)|Renal(207;0.0112)|all_hematologic(139;0.189) Epithelial(121;2.51e-10)|all cancers(144;7.89e-08)|Lung(261;0.00705)|LUSC - Lung squamous cell carcinoma(224;0.008) CGTGGCTAGAAACTTGGCTGT 0.473000 16 199 0 0 1 0 0 SLMAP 7871 broad.mit.edu 37 3 57850536 57850536 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:57850536C>T ENST00000383718.3 + 11 1236 c.1138C>T c.(1138-1140)Cgg>Tgg p.R380W SLMAP_ENST00000416870.1_Intron|SLMAP_ENST00000449503.2_Intron|SLMAP_ENST00000295951.3_Intron|SLMAP_ENST00000295952.3_Intron|SLMAP_ENST00000428312.1_Missense_Mutation_p.R380W Q14BN4 SLMAP_HUMAN sarcolemma associated protein 380 muscle contraction|protein folding integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum unfolded protein binding endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2) 18 BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182) ATTTACAGTACGGTTAGAACA 0.289000 10 25 0 0 1 0 0 PTPN18 26469 broad.mit.edu 37 2 131129859 131129859 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:131129859A>G ENST00000175756.5 + 13 1144 c.1043A>G c.(1042-1044)cAc>cGc p.H348R PTPN18_ENST00000347849.3_Missense_Mutation_p.H241R NM_014369.3 NP_055184.2 Q99952 PTN18_HUMAN protein tyrosine phosphatase, non-receptor type 18 (brain-derived) 348 cytoplasm|nucleus non-membrane spanning protein tyrosine phosphatase activity endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1) 15 Colorectal(110;0.1) TCCCCGGGCCACGCCATGGCT 0.756000 3 20 0 0 1 0 0 ADAMTSL1 92949 broad.mit.edu 37 9 18892440 18892440 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:18892440A>G ENST00000380548.4 + 26 5036 c.4697A>G c.(4696-4698)cAg>cGg p.Q1566R ADAMTSL1_ENST00000380545.5_Missense_Mutation_p.Q267R NM_001040272.5 NP_001035362.3 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 1566 TSP type-1 8. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(50;1.29e-17) GGAGGTGTCCAGACCCGCAGG 0.617000 3 21 0 0 1 0 0 SIPA1L3 23094 broad.mit.edu 37 19 38655419 38655419 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:38655419C>T ENST00000222345.6 + 15 4590 c.4081C>T c.(4081-4083)Cgg>Tgg p.R1361W NM_015073.1 NP_055888.1 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 3 1361 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3) 59 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) AGACAGGCGGCGGGAGGTCTC 0.721000 8 32 0 0 1 0 0 EIF2B2 8892 broad.mit.edu 37 14 75475775 75475775 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:75475775G>A ENST00000266126.5 + 8 1020 c.940G>A c.(940-942)Gac>Aac p.D314N NM_014239.3 NP_055054.1 P49770 EI2BB_HUMAN eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa 314 cellular response to stimulus|myelination|oligodendrocyte development|ovarian follicle development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus cytosol|eukaryotic translation initiation factor 2B complex ATP binding|GTP binding|protein binding|translation initiation factor activity endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1) 11 BRCA - Breast invasive adenocarcinoma(234;0.00661) CCCTGTGTTTGACTACGTTCC 0.483000 88 229 0 0 1 0 0 PCGF1 84759 broad.mit.edu 37 2 74733873 74733873 + Missense_Mutation SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:74733873G>T ENST00000233630.6 - 3 1249 c.338C>A c.(337-339)cCt>cAt p.P113H PCGF1_ENST00000480844.2_5'UTR NM_032673.2 NP_116062.2 Q9BSM1 PCGF1_HUMAN polycomb group ring finger 1 113 Necessary for repressor activity.|No repressor activity. histone H2A monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent PcG protein complex protein C-terminus binding|zinc ion binding endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(2) 12 TTGCAAGCCAGGCACCAGCTT 0.532000 26 74 3.28513e-13 3.42641e-13 1 1 0 ZFHX3 463 broad.mit.edu 37 16 72828177 72828177 + Missense_Mutation SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:72828177G>T ENST00000268489.5 - 9 9076 c.8404C>A c.(8404-8406)Cct>Act p.P2802T ZFHX3_ENST00000397992.5_Missense_Mutation_p.P1888T NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 2802 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) ATGGAGGAAGGGCTTAGAAGA 0.478000 7 123 0.0293803 0.0295309 1 1 0 IL23R 149233 broad.mit.edu 37 1 67635261 67635261 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:67635261G>A ENST00000347310.5 + 3 478 c.307G>A c.(307-309)Gct>Act p.A103T C1orf141_ENST00000371007.2_Intron|IL23R_ENST00000371002.1_Missense_Mutation_p.A103T NM_144701.2 NP_653302.2 Q5VWK5 IL23R_HUMAN interleukin 23 receptor 103 inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide interleukin-23 receptor complex receptor activity breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 21 GTACTGCACTGCTGAATGTCC 0.373000 9 128 0 0 1 0 0 PCDHA12 56137 broad.mit.edu 37 5 140256700 140256700 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:140256700A>G ENST00000398631.2 + 1 1643 c.1643A>G c.(1642-1644)aAc>aGc p.N548S PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron NM_018903.2|NM_031864.1 NP_061726.1|NP_114070.1 NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGGGCAGCAACGTGACGCTG 0.682000 79 252 0 0 1 0 0 SPTLC3 55304 broad.mit.edu 37 20 13098206 13098206 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:13098206A>G ENST00000399002.2 + 8 1260 c.986A>G c.(985-987)tAc>tGc p.Y329C SPTLC3_ENST00000378194.4_Intron NM_018327.2 NP_060797.2 Q9NUV7 SPTC3_HUMAN serine palmitoyltransferase, long chain base subunit 3 329 sphingoid biosynthetic process integral to membrane|serine C-palmitoyltransferase complex pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1) 25 Pyridoxal Phosphate(DB00114) AAGAAGAAATACAAGGCTTAC 0.502000 58 184 0 0 1 0 0 ATP8A1 10396 broad.mit.edu 37 4 42554538 42554538 + Nonsense_Mutation SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:42554538A>T ENST00000381668.5 - 17 1734 c.1503T>A c.(1501-1503)taT>taA p.Y501* ATP8A1_ENST00000264449.10_Nonsense_Mutation_p.Y486* NM_006095.2 NP_006086.1 Q9Y2Q0 AT8A1_HUMAN ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 501 ATP biosynthetic process chromaffin granule membrane|integral to membrane|plasma membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Phosphatidylserine(DB00144) ATGCTGCTTGATAAATAATCT 0.348000 5 60 0 0 1 0 0 TP53BP1 7158 broad.mit.edu 37 15 43738703 43738703 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:43738703C>T ENST00000263801.3 - 14 3159 c.2907G>A c.(2905-2907)ggG>ggA p.G969G TP53BP1_ENST00000382044.4_Silent_p.G974G|TP53BP1_ENST00000382039.3_Silent_p.G974G|TP53BP1_ENST00000450115.2_Silent_p.G974G NM_005657.2 NP_005648.1 Q12888 TP53B_HUMAN tumor protein p53 binding protein 1 969 double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3) 72 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) CTTTTCCACTCCCAAGTATGG 0.468000 Other conserved DNA damage response genes 15 144 0 0 1 0 0 LRP3 4037 broad.mit.edu 37 19 33697065 33697065 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:33697065T>C ENST00000253193.7 + 5 1591 c.1389T>C c.(1387-1389)ggT>ggC p.G463G NM_002333.3 NP_002324.2 O75074 LRP3_HUMAN low density lipoprotein receptor-related protein 3 463 LDL-receptor class A 4. receptor-mediated endocytosis coated pit|integral to membrane receptor activity breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2) 15 Esophageal squamous(110;0.137) TCCACTGCGGTACCAACCTGT 0.657000 7 21 0 0 1 0 0 FZD4 8322 broad.mit.edu 37 11 86662997 86662997 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:86662997A>G ENST00000531380.1 - 2 1106 c.801T>C c.(799-801)atT>atC p.I267I PRSS23_ENST00000533902.2_3'UTR NM_012193.3 NP_036325.2 Q9ULV1 FZD4_HUMAN frizzled family receptor 4 267 canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway cell projection|cell surface|cytoplasm cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1) 21 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) CAATATAAGCAATGCTATAAA 0.438000 12 27 0 0 1 0 0 KIAA0368 23392 broad.mit.edu 37 9 114174334 114174334 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:114174334G>A ENST00000259335.4 - 22 2707 c.2708C>T c.(2707-2709)tCa>tTa p.S903L KIAA0368_ENST00000338205.5_Missense_Mutation_p.S725L NM_001080398.1 NP_001073867.1 KIAA0368 NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 TTCTATCATTGATTTCAACTC 0.358000 3 21 0 0 1 0 0 CPNE8 144402 broad.mit.edu 37 12 39047852 39047852 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:39047852A>G ENST00000331366.5 - 20 1623 c.1527T>C c.(1525-1527)taT>taC p.Y509Y CPNE8_ENST00000360449.3_Silent_p.Y497Y|CPNE8_ENST00000538596.2_Silent_p.Y178Y|CPNE8_ENST00000546603.1_5'UTR NM_153634.2 NP_705898.1 Q86YQ8 CPNE8_HUMAN copine VIII 509 VWFA. NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2) 21 Esophageal squamous(101;0.187) Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157) TTCTGTCAATATAATCCCTGA 0.403000 3 53 0 0 1 0 0 MCM10 55388 broad.mit.edu 37 10 13222506 13222506 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:13222506T>C ENST00000378694.1 + 6 904 c.829T>C c.(829-831)Tct>Cct p.S277P MCM10_ENST00000484800.2_Missense_Mutation_p.S278P|MCM10_ENST00000378714.3_Missense_Mutation_p.S277P Q7L590 MCM10_HUMAN minichromosome maintenance complex component 10 278 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle nucleoplasm metal ion binding|protein binding central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1) 9 GATCAGACTGTCTCAGATCAA 0.438000 41 113 0 0 1 0 0 JAM2 58494 broad.mit.edu 37 21 27078352 27078352 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr21:27078352T>C ENST00000480456.1 + 7 1309 c.759T>C c.(757-759)gtT>gtC p.V253V JAM2_ENST00000400532.1_Silent_p.V253V|JAM2_ENST00000312957.5_Silent_p.V253V|JAM2_ENST00000425221.2_Silent_p.V217V NM_001270407.1|NM_021219.3 NP_001257336.1|NP_067042.1 P57087 JAM2_HUMAN junctional adhesion molecule 2 253 blood coagulation|cell-cell adhesion|leukocyte migration integral to plasma membrane|tight junction endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1) 19 TGATTTCCGTTTGTGGCCTTG 0.388000 21 62 0 0 1 0 0 REV1 51455 broad.mit.edu 37 2 100038070 100038070 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:100038070T>C ENST00000258428.3 - 11 1950 c.1722A>G c.(1720-1722)gtA>gtG p.V574V REV1_ENST00000465835.1_5'UTR|REV1_ENST00000393445.3_Silent_p.V573V NM_001037872.1|NM_016316.2 NP_001032961.1|NP_057400.1 Q9UBZ9 REV1_HUMAN REV1, polymerase (DNA directed) 574 UmuC. DNA replication|error-prone translesion synthesis|response to UV nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CGGTAATGTCTACCAGCGCTT 0.453000 Direct reversal of damage 25 81 0 0 1 0 0 HNRNPUL2 221092 broad.mit.edu 37 11 62490360 62490360 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:62490360G>A ENST00000301785.5 - 5 1099 c.907C>T c.(907-909)Cca>Tca p.P303S RP11-831H9.16_ENST00000403734.2_Missense_Mutation_p.P303S NM_001079559.2 NP_001073027.1 Q1KMD3 HNRL2_HUMAN heterogeneous nuclear ribonucleoprotein U-like 2 303 B30.2/SPRY. cell killing nucleus ATP binding|nucleic acid binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 TCTTTCATTGGGAGATTCTGG 0.428000 15 41 0 0 1 0 0 ISM2 145501 broad.mit.edu 37 14 77944601 77944601 + Missense_Mutation SNP C C A rs140615876 byFrequency TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:77944601C>A ENST00000493585.1 - 5 858 c.836G>T c.(835-837)cGg>cTg p.R279L ISM2_ENST00000393684.3_Silent_p.T306T|ISM2_ENST00000412904.1_Silent_p.T313T|ISM2_ENST00000429906.1_Silent_p.T313T|ISM2_ENST00000342219.4_Silent_p.T394T NM_182509.3 NP_872315.2 Q6H9L7 ISM2_HUMAN isthmin 2 0 extracellular region endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1) 21 CATGCATGTCCGTAGCATTGC 0.607000 5 302 0.0215528 0.0216729 1 1 0 PTGS2 5743 broad.mit.edu 37 1 186648239 186648239 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:186648239C>T ENST00000367468.5 - 3 400 c.264G>A c.(262-264)gtG>gtA p.V88V PTGS2_ENST00000490885.2_5'UTR NM_000963.2 NP_000954.1 P35354 PGH2_HUMAN prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) 88 cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 27 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580) GAATGTTATTCACAACGTTCC 0.353000 12 51 0 0 1 0 0 COL15A1 1306 broad.mit.edu 37 9 101749621 101749621 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:101749621G>A ENST00000375001.3 + 4 1117 c.694G>A c.(694-696)Gag>Aag p.E232K NM_001855.3 NP_001846.3 P39059 COFA1_HUMAN collagen, type XV, alpha 1 232 Nonhelical region 1 (NC1). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 107 Acute lymphoblastic leukemia(62;0.0562) CAGGACTCCCGAGGAGCTGTG 0.647000 55 170 0 0 1 0 0 ITGA5 3678 broad.mit.edu 37 12 54793706 54793706 + Missense_Mutation SNP T T A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:54793706T>A ENST00000293379.4 - 26 2930 c.2669A>T c.(2668-2670)cAc>cTc p.H890L RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA NM_002205.2 NP_002196.2 P08648 ITA5_HUMAN integrin, alpha 5 (fibronectin receptor, alpha polypeptide) 890 angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 34 TTTTTGCTGGTGGTGCAGGGA 0.537000 OREG0021897 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 219 0 0 1 0 0 PLD1 5337 broad.mit.edu 37 3 171405176 171405176 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:171405176T>C ENST00000356327.5 - 15 1808 c.1738A>G c.(1738-1740)Att>Gtt p.I580V PLD1_ENST00000351298.4_Missense_Mutation_p.I580V|PLD1_ENST00000342215.6_Intron|PLD1_ENST00000340989.4_Missense_Mutation_p.I580V NM_001130081.2 NP_001123553.1 Q13393 PLD1_HUMAN phospholipase D1, phosphatidylcholine-specific 580 Catalytic. cell communication|chemotaxis|Ras protein signal transduction endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 63 all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) Choline(DB00122) GTGCTGTCAATGCTGCTGATG 0.433000 27 68 0 0 1 0 0 PLA2G5 5322 broad.mit.edu 37 1 20417069 20417069 + Missense_Mutation SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:20417069C>A ENST00000375108.3 + 5 569 c.301C>A c.(301-303)Ccc>Acc p.P101T PLA2G5_ENST00000486277.1_3'UTR NM_000929.2 NP_000920.1 P39877 PA2G5_HUMAN phospholipase A2, group V 101 lipid catabolic process extracellular region calcium ion binding|calcium-dependent phospholipase A2 activity NS(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 14 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000249)|Lung NSC(340;0.000287)|Breast(348;0.000812)|Ovarian(437;0.00328)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;8.15e-05)|Kidney(64;0.000184)|GBM - Glioblastoma multiforme(114;0.00089)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0652) AGAGCCCGGGCCCTTCTGCCA 0.552000 6 153 0.0215528 0.0216729 1 1 0 GLDC 2731 broad.mit.edu 37 9 6588634 6588634 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:6588634T>C ENST00000321612.6 - 13 1799 c.1649A>G c.(1648-1650)cAc>cGc p.H550R NM_000170.2 NP_000161.2 P23378 GCSP_HUMAN glycine dehydrogenase (decarboxylating) 550 glycine catabolic process mitochondrion electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 Acute lymphoblastic leukemia(23;0.161) GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) AATCATGCTGTGAACAAGGGA 0.433000 18 42 0 0 1 0 0 FBXO25 26260 broad.mit.edu 37 8 385615 385615 + Splice_Site SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:385615A>G ENST00000352684.2 + 4 505 c.87_splice c.e4-1 p.R30_splice FBXO25_ENST00000276326.5_Splice_Site_p.R97_splice|FBXO25_ENST00000350302.3_Splice_Site_p.R97_splice|FBXO25_ENST00000382824.1_Splice_Site_p.R30_splice NM_012173.3 NP_036305.2 Q8TCJ0 FBX25_HUMAN F-box protein 25 97 Interaction with beta-actin. nucleus|SCF ubiquitin ligase complex actin binding|ubiquitin-protein ligase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1) 10 Ovarian(12;0.00965)|Colorectal(14;0.0815)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122) Epithelial(5;3.14e-14)|OV - Ovarian serous cystadenocarcinoma(5;1.56e-07)|BRCA - Breast invasive adenocarcinoma(11;1.88e-06) GCTTTTCCAGAGGCATGGCTA 0.358000 5 93 0 0 1 0 0 TMEM80 283232 broad.mit.edu 37 11 700633 700633 + Missense_Mutation SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:700633C>A ENST00000397512.3 + 4 313 c.203C>A c.(202-204)cCt>cAt p.P68H TMEM80_ENST00000397510.2_Missense_Mutation_p.P76H NM_001042463.1|NM_174940.2 NP_001035928.1|NP_777600.2 Q96HE8 TMM80_HUMAN transmembrane protein 80 76 integral to membrane endometrium(1)|kidney(1)|large_intestine(1)|lung(2) 5 all_cancers(49;5.11e-06)|all_epithelial(84;0.00143)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;3.44e-27)|Epithelial(43;2.29e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.19e-20)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) TTCAGCTATCCTCACCGCTAC 0.517000 155 437 1.57643e-78 1.67363e-78 1 1 0 TENM2 57451 broad.mit.edu 37 5 167671662 167671662 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:167671662C>T ENST00000519204.1 + 25 5513 c.5395C>T c.(5395-5397)Cgc>Tgc p.R1799C TENM2_ENST00000520394.1_Missense_Mutation_p.R1681C|TENM2_ENST00000403607.2_Missense_Mutation_p.R1744C|TENM2_ENST00000518659.1_Missense_Mutation_p.R1920C|TENM2_ENST00000545108.1_Missense_Mutation_p.R1919C teneurin transmembrane protein 2 CAAGCAAGGCCGCATCGTGTC 0.577000 20 78 0 0 1 0 0 UNC79 57578 broad.mit.edu 37 14 94039109 94039109 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:94039109C>T ENST00000553484.1 + 16 2171 c.2017C>T c.(2017-2019)Cgg>Tgg p.R673W UNC79_ENST00000555664.1_Missense_Mutation_p.R673W|UNC79_ENST00000256339.4_Missense_Mutation_p.R496W|UNC79_ENST00000393151.2_Missense_Mutation_p.R673W Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 673 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 TATTAGTTGTCGGTTTACAGG 0.393000 4 163 0 0 1 0 0 ZC3H14 79882 broad.mit.edu 37 14 89037460 89037460 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:89037460T>C ENST00000251038.5 + 4 452 c.227T>C c.(226-228)gTt>gCt p.V76A ZC3H14_ENST00000557607.1_5'UTR|ZC3H14_ENST00000555755.1_Missense_Mutation_p.V76A|ZC3H14_ENST00000336693.4_Missense_Mutation_p.V42A|ZC3H14_ENST00000556945.1_Missense_Mutation_p.V76A|ZC3H14_ENST00000393514.5_Missense_Mutation_p.V76A|ZC3H14_ENST00000359301.3_Missense_Mutation_p.V42A|ZC3H14_ENST00000302216.8_Missense_Mutation_p.V76A NM_001160103.1|NM_001160104.1|NM_024824.4 NP_001153575.1|NP_001153576.1|NP_079100.2 Q6PJT7 ZC3HE_HUMAN zinc finger CCCH-type containing 14 76 cytoplasm|nuclear speck protein binding|RNA binding|zinc ion binding cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2) 21 CTTCGCTCTGTTACAACTGGT 0.313000 14 32 0 0 1 0 0 MRPS15 64960 broad.mit.edu 37 1 36926325 36926325 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:36926325T>C ENST00000373116.5 - 5 514 c.353A>G c.(352-354)aAc>aGc p.N118S NM_031280.3 NP_112570.2 P82914 RT15_HUMAN mitochondrial ribosomal protein S15 118 translation mitochondrial small ribosomal subunit|nuclear membrane structural constituent of ribosome breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1) 14 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GTCCTCTGGGTTTGCAACAAT 0.517000 6 84 0 0 1 0 0 OVCH1 341350 broad.mit.edu 37 12 29649501 29649501 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:29649501T>C ENST00000318184.5 - 2 170 c.171A>G c.(169-171)ggA>ggG p.G57G NM_183378.2 NP_899234.2 Q7RTY7 OVCH1_HUMAN ovochymase 1 57 Peptidase S1 1. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3) 92 Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155) GCCATGGATGTCCAGTCACTG 0.393000 23 77 0 0 1 0 0 PPP1R10 5514 broad.mit.edu 37 6 30569889 30569889 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:30569889C>T ENST00000376511.2 - 19 3089 c.2537G>A c.(2536-2538)cGt>cAt p.R846H NM_002714.3 NP_002705.2 Q96QC0 PP1RA_HUMAN protein phosphatase 1, regulatory subunit 10 846 Gly-rich. protein import into nucleus|transcription, DNA-dependent PTW/PP1 phosphatase complex DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1) 25 TTCATGGGGACGATGTCCACC 0.672000 40 123 0 0 1 0 0 GPAM 57678 broad.mit.edu 37 10 113933601 113933601 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:113933601A>G ENST00000348367.4 - 7 613 c.416T>C c.(415-417)gTa>gCa p.V139A GPAM_ENST00000423155.1_Missense_Mutation_p.V139A|GPAM_ENST00000369425.1_Missense_Mutation_p.V139A Q9HCL2 GPAT1_HUMAN glycerol-3-phosphate acyltransferase, mitochondrial 139 phospholipid biosynthetic process|triglyceride biosynthetic process integral to membrane|mitochondrial outer membrane glycerol-3-phosphate O-acyltransferase activity breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 Epithelial(162;0.0306)|all cancers(201;0.123) TGCCTCTTGTACTCTGGTATG 0.358000 15 54 0 0 1 0 0 APCDD1L 164284 broad.mit.edu 37 20 57036286 57036286 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:57036286T>C ENST00000371149.3 - 4 1296 c.1066A>G c.(1066-1068)Aca>Gca p.T356A APCDD1L_ENST00000491015.1_5'UTR|APCDD1L_ENST00000439429.1_Missense_Mutation_p.T367A NM_153360.1 NP_699191.1 Q8NCL9 APCDL_HUMAN adenomatosis polyposis coli down-regulated 1-like 356 integral to membrane large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1) 18 Lung NSC(12;0.000856)|all_lung(29;0.0025) BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06) TGGGCCCGTGTGACCTCAAAC 0.687000 4 66 0 0 1 0 0 CSNK1A1L 122011 broad.mit.edu 37 13 37679168 37679168 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr13:37679168T>C ENST00000379800.3 - 1 635 c.226A>G c.(226-228)Atg>Gtg p.M76V NM_145203.5 NP_660204.2 Q8N752 KC1AL_HUMAN casein kinase 1, alpha 1-like 76 Protein kinase. Wnt receptor signaling pathway cytoplasm ATP binding|protein serine/threonine kinase activity p.M76V(1) NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 37 Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109) all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407) TACCAGTGCATGTGGGGGATG 0.493000 32 110 0 0 1 0 0 ZBED4 9889 broad.mit.edu 37 22 50280302 50280302 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr22:50280302C>T ENST00000216268.4 + 2 3469 c.2992C>T c.(2992-2994)Cac>Tac p.H998Y NM_014838.2 NP_055653.2 O75132 ZBED4_HUMAN zinc finger, BED-type containing 4 998 cytoplasm|nucleus DNA binding|metal ion binding|protein dimerization activity breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 44 all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247) TGCCACCCTCCACGACCCGCG 0.597000 6 27 0 0 1 0 0 MIPEP 4285 broad.mit.edu 37 13 24444256 24444256 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr13:24444256T>C ENST00000382172.3 - 6 780 c.682A>G c.(682-684)Aag>Gag p.K228E NM_005932.3 NP_005923.2 Q99797 MIPEP_HUMAN mitochondrial intermediate peptidase 228 protein processing involved in protein targeting to mitochondrion|proteolysis mitochondrial matrix metal ion binding|metalloendopeptidase activity breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1) 27 all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14) all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232) TTCTCAATCTTGTTGGGAAAA 0.403000 7 102 0 0 1 0 0 ADAMTSL4 54507 broad.mit.edu 37 1 150529726 150529726 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:150529726G>A ENST00000271643.4 + 12 2198 c.1962G>A c.(1960-1962)ccG>ccA p.P654P ADAMTSL4_ENST00000369041.5_Silent_p.P654P|ADAMTSL4_ENST00000369038.2_Silent_p.P654P|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369039.5_Silent_p.P677P NM_019032.4 NP_061905.2 Q6UY14 ATL4_HUMAN ADAMTS-like 4 654 Pro-rich. apoptosis|positive regulation of apoptosis metalloendopeptidase activity|protease binding breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3) 32 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) TGCCCGCCCCGCCCCATCCCA 0.672000 3 23 0 0 1 0 0 TSC1 7248 broad.mit.edu 37 9 135771891 135771891 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:135771891T>C ENST00000298552.3 - 23 3447 c.3226A>G c.(3226-3228)Acc>Gcc p.T1076A TSC1_ENST00000440111.2_Missense_Mutation_p.T1076A|TSC1_ENST00000545250.1_Missense_Mutation_p.T1025A NM_000368.4|NM_001162426.1|NM_001162427.1 NP_000359.1|NP_001155898.1|NP_001155899.1 Q92574 TSC1_HUMAN tuberous sclerosis 1 1076 activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus cell cortex|lamellipodium|membrane|TSC1-TSC2 complex chaperone binding|protein N-terminus binding p.?(1) NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 65 OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06) CCCACAGTGGTGGGGATGCTG 0.557000 """D, Mis, N, F, S""" """hamartoma, renal cell""" Tuberous Sclerosis 22 88 0 0 1 0 0 LRP8 7804 broad.mit.edu 37 1 53722996 53722996 + Missense_Mutation SNP C C G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:53722996C>G ENST00000306052.6 - 15 2451 c.2350G>C c.(2350-2352)Gtc>Ctc p.V784L LRP8_ENST00000354412.3_Intron|LRP8_ENST00000465675.1_Missense_Mutation_p.V337L|LRP8_ENST00000371454.2_Missense_Mutation_p.V784L|LRP8_ENST00000347547.2_Missense_Mutation_p.V614L|LRP8_ENST00000460214.1_5'UTR NM_004631.4 NP_004622.2 Q14114 LRP8_HUMAN low density lipoprotein receptor-related protein 8, apolipoprotein e receptor 784 Clustered O-linked oligosaccharides. cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis caveola calcium ion binding|very-low-density lipoprotein particle receptor activity endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1) 21 GAGCTTGGGACTGCAGCTGTC 0.592000 24 49 0 0 1 0 0 SLC25A48 153328 broad.mit.edu 37 5 135188294 135188294 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:135188294A>G ENST00000274513.5 + 4 377 c.205A>G c.(205-207)Att>Gtt p.I69V SLC25A48_ENST00000420621.1_Missense_Mutation_p.I69V|SLC25A48_ENST00000412661.2_Missense_Mutation_p.I69V|SLC25A48_ENST00000433282.2_Missense_Mutation_p.I15V|SLC25A48_ENST00000425402.1_Intron Q6ZT89 S2548_HUMAN solute carrier family 25, member 48 69 transmembrane transport integral to membrane|mitochondrial inner membrane binding NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1) 10 CCTCGCCAGCATTGCCGTCTA 0.627000 20 264 0 0 1 0 0 TRHR 7201 broad.mit.edu 37 8 110131623 110131623 + Missense_Mutation SNP C C G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:110131623C>G ENST00000518632.1 + 3 1487 c.1136C>G c.(1135-1137)gCc>gGc p.A379G TRHR_ENST00000311762.2_Missense_Mutation_p.A379G P34981 TRFR_HUMAN thyrotropin-releasing hormone receptor 379 integral to plasma membrane thyrotropin-releasing hormone receptor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(57;2.3e-11) TACCTGTCTGCCACAAAAGTG 0.418000 14 140 0 0 1 0 0 APC 324 broad.mit.edu 37 5 112177340 112177340 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:112177340A>G ENST00000457016.1 + 16 6429 c.6049A>G c.(6049-6051)Acc>Gcc p.T2017A APC_ENST00000508376.2_Missense_Mutation_p.T2017A|APC_ENST00000257430.4_Missense_Mutation_p.T2017A|CTC-554D6.1_ENST00000520401.1_Intron P25054 APC_HUMAN adenomatous polyposis coli 2017 Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.?(1) NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20) 3261 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) tgttgaagataccccagtttg 0.418000 12 """D, Mis, N, F, S""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis TSP Lung(16;0.13) 33 90 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56497784 56497784 + Missense_Mutation SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:56497784A>T ENST00000370754.5 - 27 3573 c.3574T>A c.(3574-3576)Tct>Act p.S1192T DST_ENST00000370769.4_Missense_Mutation_p.S1014T|DST_ENST00000312431.6_Missense_Mutation_p.S1014T|DST_ENST00000421834.2_Missense_Mutation_p.S1014T|DST_ENST00000370788.2_Missense_Mutation_p.S1014T|DST_ENST00000446842.2_Missense_Mutation_p.S688T|DST_ENST00000361203.3_Missense_Mutation_p.S1014T|DST_ENST00000370765.6_Missense_Mutation_p.S688T|DST_ENST00000244364.6_Missense_Mutation_p.S688T|DST_ENST00000518935.1_Missense_Mutation_p.S688T Q03001 DYST_HUMAN dystonin 1014 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TCAAAACGAGATTGTAGATTA 0.358000 12 54 0 0 1 0 0 WBSCR27 155368 broad.mit.edu 37 7 73254873 73254873 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:73254873C>T ENST00000297873.4 - 4 308 c.259G>A c.(259-261)Gct>Act p.A87T NM_152559.2 NP_689772.2 Q8N6F8 WBS27_HUMAN Williams Beuren syndrome chromosome region 27 87 NS(1)|central_nervous_system(1)|lung(2)|prostate(1) 5 Lung NSC(55;0.159) AAGCCTGGAGCCCGCAGCTGG 0.662000 10 24 0 0 1 0 0 AGO2 27161 broad.mit.edu 37 8 141551423 141551423 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:141551423T>C ENST00000220592.5 - 15 1986 c.1874A>G c.(1873-1875)tAc>tGc p.Y625C AGO2_ENST00000519980.1_Missense_Mutation_p.Y625C NM_012154.3 NP_036286.2 argonaute RISC catalytic component 2 GGTGGCGCAGTAGCGATTGGG 0.622000 7 40 0 0 1 0 0 CDK12 51755 broad.mit.edu 37 17 37650864 37650864 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:37650864G>A ENST00000447079.4 + 5 2369 c.2336G>A c.(2335-2337)cGt>cAt p.R779H CDK12_ENST00000430627.2_Missense_Mutation_p.R779H NM_015083.1|NM_016507.2 NP_055898.1|NP_057591.2 Q9NYV4 CDK12_HUMAN cyclin-dependent kinase 12 779 Protein kinase. mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3) 70 AAAATCCTTCGTCAGTTAatc 0.408000 """Mis, N, F""" serous ovarian TCGA Ovarian(9;0.13) 9 26 0 0 1 0 0 SLCO5A1 81796 broad.mit.edu 37 8 70594434 70594434 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:70594434A>G ENST00000260126.3 - 7 2473 c.1767T>C c.(1765-1767)ggT>ggC p.G589G SLCO5A1_ENST00000524945.1_Silent_p.G589G|SLCO5A1_ENST00000530307.1_Silent_p.G534G NM_030958.2 NP_112220.2 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, member 5A1 589 Kazal-like. integral to membrane|plasma membrane transporter activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) TGCTAAGATTACCACTATTAA 0.408000 57 117 0 0 1 0 0 MYLK 4638 broad.mit.edu 37 3 123419195 123419195 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:123419195G>A ENST00000360772.3 - 19 3498 c.3120C>T c.(3118-3120)aaC>aaT p.N1040N MYLK_ENST00000346322.5_Silent_p.N971N|MYLK_ENST00000360304.3_Silent_p.N1040N|MYLK_ENST00000475616.1_Silent_p.N1040N|MYLK_ENST00000359169.1_Silent_p.N1040N Q15746 MYLK_HUMAN myosin light chain kinase 1040 6 X 12 AA approximate tandem repeats. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) CAGGCTTGGCGTTGCCCATTG 0.557000 90 267 0 0 1 0 0 ITGA7 3679 broad.mit.edu 37 12 56091548 56091548 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:56091548A>G ENST00000257880.7 - 10 1691 c.1472T>C c.(1471-1473)tTg>tCg p.L491S ITGA7_ENST00000257879.6_Missense_Mutation_p.L447S|ITGA7_ENST00000347027.6_Missense_Mutation_p.L447S|ITGA7_ENST00000394229.2_Missense_Mutation_p.L447S|ITGA7_ENST00000452168.2_Missense_Mutation_p.L354S|ITGA7_ENST00000555728.1_Missense_Mutation_p.L491S|ITGA7_ENST00000394230.2_Missense_Mutation_p.L451S|ITGA7_ENST00000553804.1_Missense_Mutation_p.L451S Q13683 ITA7_HUMAN integrin, alpha 7 491 cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape integrin complex receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 ATCCATATCCAAGCTGCCTGA 0.607000 6 190 0 0 1 0 0 SAE1 10055 broad.mit.edu 37 19 47712512 47712512 + Nonsense_Mutation SNP C C G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:47712512C>G ENST00000413379.3 + 7 932 c.830C>G c.(829-831)tCa>tGa p.S277* SAE1_ENST00000270225.7_3'UTR|SAE1_ENST00000392776.3_3'UTR|SAE1_ENST00000540850.1_3'UTR|SAE1_ENST00000598840.1_3'UTR NM_001145713.1 NP_001139185.1 Q9UBE0 SAE1_HUMAN SUMO1 activating enzyme subunit 1 0 protein sumoylation|protein ubiquitination nucleus ATP-dependent protein binding|enzyme activator activity|ligase activity|protein C-terminus binding|protein heterodimerization activity|ubiquitin activating enzyme activity endometrium(3)|large_intestine(5)|lung(4)|ovary(1) 13 all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15) all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278) CAAGTGAACTCAAGATTTGGC 0.547000 19 53 0 0 1 0 0 DDO 8528 broad.mit.edu 37 6 110734649 110734649 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:110734649A>G ENST00000368924.3 - 2 116 c.101T>C c.(100-102)aTt>aCt p.I34T DDO_ENST00000368925.1_Missense_Mutation_p.I6T|DDO_ENST00000368923.3_Missense_Mutation_p.I34T NM_003649.2 NP_003640.2 Q99489 OXDD_HUMAN D-aspartate oxidase 6 aspartate catabolic process peroxisome binding|D-amino-acid oxidase activity|D-aspartate oxidase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3) 24 all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327) all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046) GACAACTGCAATCCGTGCTGT 0.507000 55 155 0 0 1 0 0 DAB1 1600 broad.mit.edu 37 1 57480729 57480729 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:57480729G>A ENST00000371236.2 - 12 1534 c.1271C>T c.(1270-1272)cCg>cTg p.P424L DAB1_ENST00000439789.2_Missense_Mutation_p.P338L|DAB1_ENST00000414851.2_Missense_Mutation_p.P406L|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371231.1_Missense_Mutation_p.P457L|DAB1_ENST00000420954.2_Missense_Mutation_p.P422L|DAB1_ENST00000371234.4_Missense_Mutation_p.P424L O75553 DAB1_HUMAN Dab, reelin signal transducer, homolog 1 (Drosophila) 457 cell differentiation|nervous system development p.P424L(1) central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5) 64 GGGCACGGGCGGAGGCTGGGC 0.582000 24 65 0 0 1 0 0 MOBP 4336 broad.mit.edu 37 3 39543701 39543701 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:39543701T>C ENST00000311042.6 + 3 290 c.141T>C c.(139-141)tgT>tgC p.C47C MOBP_ENST00000420739.1_Silent_p.C47C|MOBP_ENST00000396228.1_Silent_p.C47C|MOBP_ENST00000415443.1_Silent_p.C47C|MOBP_ENST00000383754.3_Silent_p.C47C|MOBP_ENST00000428261.1_Silent_p.C47C|MOBP_ENST00000354668.4_Silent_p.C47C|MOBP_ENST00000447324.1_Silent_p.C47C|MOBP_ENST00000441980.2_Silent_p.C47C NM_001278322.1 NP_001265251.1 Q13875 MOBP_HUMAN myelin-associated oligodendrocyte basic protein 47 nervous system development nucleolus|perinuclear region of cytoplasm|soluble fraction p.C47W(1) central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1) 6 KIRC - Kidney renal clear cell carcinoma(284;0.082)|Kidney(284;0.0998) ACAGCATCTGTAAGAGCGGCT 0.557000 19 71 0 0 1 0 0 C3orf62 375341 broad.mit.edu 37 3 49311557 49311557 + Missense_Mutation SNP C C G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:49311557C>G ENST00000343010.3 - 2 1499 c.463G>C c.(463-465)Gat>Cat p.D155H MIR4271_ENST00000582451.1_RNA NM_198562.2 NP_940964.1 Q6ZUJ4 CC062_HUMAN chromosome 3 open reading frame 62 155 breast(1)|kidney(1)|large_intestine(1)|lung(3) 6 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) GCCTTCAAATCTCTCTCCATA 0.448000 25 58 0 0 1 0 0 PKD1 5310 broad.mit.edu 37 16 2143020 2143020 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:2143020G>A ENST00000262304.4 - 38 11299 c.11091C>T c.(11089-11091)caC>caT p.H3697H RP11-304L19.1_ENST00000570072.1_RNA|PKD1_ENST00000423118.1_Silent_p.H3696H NM_001009944.2 NP_001009944.2 P98161 PKD1_HUMAN polycystic kidney disease 1 (autosomal dominant) 3697 calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 GACGGTAGGCGTGCCCATGGC 0.642000 49 148 0 0 1 0 0 TMEM209 84928 broad.mit.edu 37 7 129813778 129813778 + Splice_Site SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:129813778A>T ENST00000397622.2 - 12 1468 c.1344_splice c.e12-1 p.I449_splice RP11-775D22.3_ENST00000483283.1_RNA|TMEM209_ENST00000462753.1_Splice_Site_p.I448_splice|TMEM209_ENST00000336804.8_Splice_Site_p.I406_splice|TMEM209_ENST00000473456.1_Splice_Site_p.I407_splice NM_032842.3 NP_116231.2 Q96SK2 TM209_HUMAN transmembrane protein 209 449 integral to membrane NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1) 12 Melanoma(18;0.0435) ATGCATGATGATCTGAGGATG 0.353000 6 207 0 0 1 0 0 CEP76 79959 broad.mit.edu 37 18 12674619 12674619 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr18:12674619G>A ENST00000262127.2 - 11 1982 c.1757C>T c.(1756-1758)gCt>gTt p.A586V CEP76_ENST00000423709.2_Missense_Mutation_p.A511V|RP11-973H7.2_ENST00000585331.1_RNA NM_024899.2 NP_079175.2 Q8TAP6 CEP76_HUMAN centrosomal protein 76kDa 586 G2/M transition of mitotic cell cycle|regulation of centriole replication centriole|cytosol protein binding endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 ATCAGGTACAGCCCTTCTTAT 0.398000 33 76 0 0 1 0 0 ISL2 64843 broad.mit.edu 37 15 76633580 76633580 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:76633580T>C ENST00000290759.4 + 5 1061 c.901T>C c.(901-903)Tgg>Cgg p.W301R RP11-685G9.2_ENST00000559539.1_RNA NM_145805.1 NP_665804.1 Q96A47 ISL2_HUMAN ISL LIM homeobox 2 301 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|kidney(1)|lung(2)|ovary(1)|skin(1) 6 CCAGCCGCCGTGGAAGGCGCT 0.687000 6 18 0 0 1 0 0 CYP7A1 1581 broad.mit.edu 37 8 59409581 59409581 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:59409581C>T ENST00000301645.3 - 3 627 c.490G>A c.(490-492)Gct>Act p.A164T NM_000780.3 NP_000771.2 P22680 CP7A1_HUMAN cytochrome P450, family 7, subfamily A, polypeptide 1 164 bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1) 34 all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554) ACCCAGGCAGCGGTCTTTGAG 0.488000 Neonatal Giant Cell Hepatitis 18 263 0 0 1 0 0 CTAGE5 4253 broad.mit.edu 37 14 39818098 39818098 + Missense_Mutation SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:39818098C>A ENST00000553728.1 + 27 3983 c.3770C>A c.(3769-3771)cCt>cAt p.P1257H CTAGE5_ENST00000557038.1_Missense_Mutation_p.P642H|CTAGE5_ENST00000396158.2_Missense_Mutation_p.P727H|CTAGE5_ENST00000348007.3_Missense_Mutation_p.P679H|CTAGE5_ENST00000341749.3_Missense_Mutation_p.P710H|CTAGE5_ENST00000553352.1_Missense_Mutation_p.P693H|CTAGE5_ENST00000396165.4_Missense_Mutation_p.P693H|CTAGE5_ENST00000341502.5_Missense_Mutation_p.P722H|CTAGE5_ENST00000280083.3_Missense_Mutation_p.P722H|CTAGE5_ENST00000553383.1_3'UTR|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.P693H|CTAGE5_ENST00000556148.1_Missense_Mutation_p.P647H TTCCCCCCACCTCCTCCAGGA 0.507000 15 269 2.32078e-09 2.39896e-09 1 1 0 C1orf131 128061 broad.mit.edu 37 1 231376829 231376829 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:231376829G>A ENST00000318906.2 - 1 87 c.59C>T c.(58-60)tCc>tTc p.S20F C1orf131_ENST00000366649.2_Missense_Mutation_p.S20F|C1orf131_ENST00000366651.3_Missense_Mutation_p.S20F|C1orf131_ENST00000471936.1_5'UTR Q8NDD1 CA131_HUMAN chromosome 1 open reading frame 131 20 breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1) 8 Breast(184;0.0871) all_cancers(173;0.2)|Prostate(94;0.183) GGGAGGCGTGGAGGACCCCGG 0.627000 17 167 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32032761 32032761 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:32032761G>A ENST00000375244.3 - 19 6879 c.6678C>T c.(6676-6678)gtC>gtT p.V2226V TNXB_ENST00000375247.2_Silent_p.V2226V P22105 TENX_HUMAN tenascin XB 2298 Fibronectin type-III 14. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 TCTTAAACTGGACCAAGAAAT 0.607000 5 24 0 0 1 0 0 NAA15 80155 broad.mit.edu 37 4 140297593 140297593 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:140297593T>C ENST00000296543.5 + 16 2345 c.2022T>C c.(2020-2022)acT>acC p.T674T NAA15_ENST00000398947.1_Silent_p.T674T NM_057175.3 NP_476516.1 Q9BXJ9 NAA15_HUMAN N(alpha)-acetyltransferase 15, NatA auxiliary subunit 674 angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|transcription factor complex protein binding NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 AGATAGAGACTCATCTTTTTG 0.348000 5 77 0 0 1 0 0 ATP1A2 477 broad.mit.edu 37 1 160093055 160093055 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:160093055C>T ENST00000361216.3 + 4 319 c.230C>T c.(229-231)gCc>gTc p.A77V ATP1A2_ENST00000392233.3_Missense_Mutation_p.A77V|ATP1A2_ENST00000472488.1_3'UTR NM_000702.3 NP_000693.1 P50993 AT1A2_HUMAN ATPase, Na+/K+ transporting, alpha 2 polypeptide 77 ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 69 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) GGGCCCAACGCCCTCACACCA 0.632000 60 184 0 0 1 0 0 ACCS 84680 broad.mit.edu 37 11 44089200 44089200 + Missense_Mutation SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:44089200A>T ENST00000263776.8 + 2 457 c.23A>T c.(22-24)gAc>gTc p.D8V ACCS_ENST00000533208.1_3'UTR|ACCS_ENST00000432284.2_Missense_Mutation_p.D8V NM_001127219.1|NM_032592.3 NP_001120691.1|NP_115981.1 Q96QU6 1A1L1_HUMAN 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional) 8 1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1) 35 CCTCAAAAGGACTTCAGGGCT 0.537000 24 90 0 0 1 0 0 PCDHB13 56123 broad.mit.edu 37 5 140595075 140595075 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:140595075C>T ENST00000341948.4 + 1 1567 c.1380C>T c.(1378-1380)gtC>gtT p.V460V NM_018933.2 NP_061756.1 Q9Y5F0 PCDBD_HUMAN 460 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 66 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCCTGTTCGTCCGCGAGAACA 0.607000 6 355 0 0 1 0 0 DCP1A 55802 broad.mit.edu 37 3 53326391 53326391 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:53326391C>T ENST00000607628.1 - 7 1200 c.1091G>A c.(1090-1092)aGc>aAc p.S364N DCP1A_ENST00000294241.6_Missense_Mutation_p.S364N|DCP1A_ENST00000606822.1_Missense_Mutation_p.S326N|DCP1A_ENST00000480258.1_5'UTR NM_018403.5 NP_060873.4 Q9NPI6 DCP1A_HUMAN decapping mRNA 1A 364 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytoplasmic mRNA processing body|cytosol|nucleus hydrolase activity|protein binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647) ACTGGCATGGCTTAGCTCAGG 0.567000 32 89 0 0 1 0 0 R3HDM1 23518 broad.mit.edu 37 2 136402990 136402990 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:136402990A>G ENST00000264160.4 + 16 1886 c.1516A>G c.(1516-1518)Aat>Gat p.N506D R3HDM1_ENST00000443537.2_3'UTR|R3HDM1_ENST00000409606.1_Missense_Mutation_p.N506D|R3HDM1_ENST00000410054.1_Missense_Mutation_p.N450D|R3HDM1_ENST00000409478.1_Missense_Mutation_p.N377D|R3HDM1_ENST00000329971.3_Missense_Mutation_p.N377D NM_015361.2 NP_056176.2 Q15032 R3HD1_HUMAN R3H domain containing 1 506 nucleic acid binding breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 38 BRCA - Breast invasive adenocarcinoma(221;0.127) AGTTGTGTATAATCCTCCTAT 0.448000 9 123 0 0 1 0 0 ACLY 47 broad.mit.edu 37 17 40035067 40035067 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:40035067C>T ENST00000352035.2 - 21 2506 c.2376G>A c.(2374-2376)gaG>gaA p.E792E ACLY_ENST00000537919.1_Silent_p.E521E|ACLY_ENST00000590151.1_Silent_p.E792E|ACLY_ENST00000393896.2_Silent_p.E782E|ACLY_ENST00000353196.1_Silent_p.E782E NM_001096.2 NP_001087.2 P53396 ACLY_HUMAN ATP citrate lyase 792 ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process citrate lyase complex|cytosol|nucleus ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity NTN1/ACLY(2) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 Breast(137;0.000143) TCTCTCCAAGCTCATCAAAGC 0.567000 18 132 0 0 1 0 0 EIF1AX 1964 broad.mit.edu 37 X 20153883 20153883 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chrX:20153883A>G ENST00000379607.5 - 3 380 c.177T>C c.(175-177)tgT>tgC p.C59C EIF1AX_ENST00000379593.1_Silent_p.C31C NM_001412.3 NP_001403.1 P47813 IF1AX_HUMAN eukaryotic translation initiation factor 1A, X-linked 59 S1-like. cytosol translation initiation factor activity endometrium(2)|lung(1)|ovary(1)|prostate(1) 5 CTCTGATGTGACATAACCTCT 0.383000 4 87 0 0 1 0 0 AHDC1 27245 broad.mit.edu 37 1 27877213 27877213 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:27877213G>A ENST00000374011.2 - 6 2382 c.1414C>T c.(1414-1416)Cgg>Tgg p.R472W AHDC1_ENST00000247087.5_Missense_Mutation_p.R472W|AHDC1_ENST00000482400.2_Intron NM_001029882.2 NP_001025053.1 Q5TGY3 AHDC1_HUMAN AT hook, DNA binding motif, containing 1 472 DNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291) ACCATGCGCCGCACGCCCCGG 0.627000 9 28 0 0 1 0 0 UNC50 25972 broad.mit.edu 37 2 99226389 99226389 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:99226389T>C ENST00000409975.1 + 1 1348 c.218T>C c.(217-219)cTg>cCg p.L73P UNC50_ENST00000409347.1_Missense_Mutation_p.L73P|UNC50_ENST00000357765.2_Missense_Mutation_p.L56P Q53HI1 UNC50_HUMAN unc-50 homolog (C. elegans) 56 protein transport Golgi membrane|integral to membrane|nuclear inner membrane RNA binding breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1) 10 ATGCTCTACCTGTTCACATCC 0.473000 4 124 0 0 1 0 0 KDM5A 5927 broad.mit.edu 37 12 459895 459895 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:459895G>A ENST00000399788.2 - 10 1562 c.1200C>T c.(1198-1200)agC>agT p.S400S KDM5A_ENST00000382815.4_Silent_p.S400S NM_001042603.1 NP_001036068.1 P29375 KDM5A_HUMAN lysine (K)-specific demethylase 5A 400 chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2) 77 CTTCTTCAATGCTGCTTACCA 0.398000 T NUP98 AML 13 78 0 0 1 0 0 GBP7 388646 broad.mit.edu 37 1 89616155 89616155 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:89616155T>C ENST00000294671.2 - 6 867 c.729A>G c.(727-729)aaA>aaG p.K243K NM_207398.2 NP_997281.2 Q8N8V2 GBP7_HUMAN guanylate binding protein 7 243 integral to membrane GTP binding|GTPase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Lung NSC(277;0.0908) all cancers(265;0.00835)|Epithelial(280;0.0322) GTAAGAGTTTTTTGTCATTTA 0.388000 16 78 0 0 1 0 0 PDZD2 23037 broad.mit.edu 37 5 31983619 31983619 + Missense_Mutation SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:31983619C>A ENST00000438447.1 + 3 1223 c.835C>A c.(835-837)Ccc>Acc p.P279T PDZD2_ENST00000282493.3_Missense_Mutation_p.P279T O15018 PDZD2_HUMAN PDZ domain containing 2 279 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 GGTGGCTGGACCCCATCTAGA 0.527000 4 137 2.56e-06 2.6216e-06 1 1 0 DTX1 1840 broad.mit.edu 37 12 113496126 113496126 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:113496126C>T ENST00000257600.3 + 1 632 c.129C>T c.(127-129)acC>acT p.T43T NM_004416.2 NP_004407.2 Q86Y01 DTX1_HUMAN deltex homolog 1 (Drosophila) 43 WWE 1. negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter cytoplasm|nucleus Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 32 ACACGGCCACCGTGTGCCACC 0.652000 23 133 0 0 1 0 0 SARDH 1757 broad.mit.edu 37 9 136573485 136573485 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:136573485G>A ENST00000371872.4 - 11 1651 c.1394C>T c.(1393-1395)gCc>gTc p.A465V SARDH_ENST00000422262.2_Missense_Mutation_p.A297V|SARDH_ENST00000439388.1_Missense_Mutation_p.A465V NM_007101.3 NP_009032.2 Q9UL12 SARDH_HUMAN sarcosine dehydrogenase 465 glycine catabolic process mitochondrial matrix aminomethyltransferase activity|sarcosine dehydrogenase activity central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 44 OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05) GTAGTTCTTGGCGTAGGACTC 0.652000 20 190 0 0 1 0 0 PEX3 8504 broad.mit.edu 37 6 143795986 143795986 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:143795986T>C ENST00000367591.4 + 9 874 c.811T>C c.(811-813)Ttg>Ctg p.L271L NM_003630.2 NP_003621.1 P56589 PEX3_HUMAN peroxisomal biogenesis factor 3 271 protein import into peroxisome membrane|transmembrane transport integral to peroxisomal membrane protein binding endometrium(1)|large_intestine(9)|lung(4)|ovary(2)|skin(2) 18 OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117) TAGAGACATGTTGGAAAGGTA 0.338000 5 104 0 0 1 0 0 CCT5 22948 broad.mit.edu 37 5 10258521 10258521 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:10258521A>G ENST00000280326.4 + 6 1167 c.747A>G c.(745-747)gcA>gcG p.A249A CCT5_ENST00000503026.1_Silent_p.A228A|CCT5_ENST00000506600.1_Silent_p.A156A|CCT5_ENST00000515676.1_Silent_p.A211A|CCT5_ENST00000515390.1_Silent_p.A194A NM_012073.3 NP_036205.1 P48643 TCPE_HUMAN chaperonin containing TCP1, subunit 5 (epsilon) 249 'de novo' posttranslational protein folding|response to virus microtubule organizing center|nucleolus ATP binding|unfolded protein binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2) 26 CGAAGATTGCAATTCTCACAT 0.403000 49 110 0 0 1 0 0 BPIFB4 149954 broad.mit.edu 37 20 31671444 31671444 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:31671444T>C ENST00000375483.3 + 3 441 c.441T>C c.(439-441)ctT>ctC p.L147L NM_182519.2 NP_872325.2 P59827 LPLC4_HUMAN BPI fold containing family B, member 4 147 Gly-rich. cytoplasm|extracellular region lipid binding TGGGCAGGCTTCACCGGCGAG 0.647000 29 85 0 0 1 0 0 CRLF1 9244 broad.mit.edu 37 19 18710432 18710432 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:18710432G>A ENST00000392386.3 - 2 533 c.340C>T c.(340-342)Ctc>Ttc p.L114F NM_004750.4 NP_004741.1 O75462 CRLF1_HUMAN cytokine receptor-like factor 1 114 Ig-like C2-type. negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein extracellular space cytokine binding|protein heterodimerization activity|receptor activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1) 9 TGGCACACGAGGTTGTCCCCC 0.672000 14 44 0 0 1 0 0 CBWD6 644019 broad.mit.edu 37 9 69247573 69247573 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:69247573C>T ENST00000377457.5 - 5 544 c.439G>A c.(439-441)Gct>Act p.A147T CBWD6_ENST00000382399.4_Intron|CBWD6_ENST00000377449.1_Missense_Mutation_p.A111T NM_001085457.1 NP_001078926.1 Q4V339 CBWD6_HUMAN COBW domain containing 6 147 ATP binding lung(4) 4 AACATAGAAGCCACTGCACGT 0.269000 4 27 0 0 1 0 0 ZNF839 55778 broad.mit.edu 37 14 102808375 102808375 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:102808375A>G ENST00000262236.5 + 8 2656 c.2301A>G c.(2299-2301)ttA>ttG p.L767L ZNF839_ENST00000442396.2_Silent_p.L881L|ZNF839_ENST00000420933.2_3'UTR|ZNF839_ENST00000559185.1_Silent_p.L765L|ZNF839_ENST00000558850.1_Silent_p.L765L NM_018335.4 NP_060805.3 A8K0R7 ZN839_HUMAN zinc finger protein 839 765 intracellular zinc ion binding breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 19 GCCATGAGTTACTGTCTCAGG 0.512000 11 64 0 0 1 0 0 MAML2 84441 broad.mit.edu 37 11 95825905 95825905 + Silent SNP T T A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:95825905T>A ENST00000524717.1 - 2 2574 c.1290A>T c.(1288-1290)gtA>gtT p.V430V NM_032427.1 NP_115803.1 Q8IZL2 MAML2_HUMAN mastermind-like 2 (Drosophila) 430 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity CRTC3/MAML2(26)|CRTC1/MAML2(516) breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 43 Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837) GGGCATGGGATACTTCCTGCC 0.607000 T """MECT1, CRTC3""" salivary gland mucoepidermoid 6 78 0 0 1 0 0 TCEB1 6921 broad.mit.edu 37 8 74868286 74868286 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:74868286C>T ENST00000602840.1 - 3 202 c.8G>A c.(7-9)gGa>gAa p.G3E TCEB1_ENST00000523815.1_Missense_Mutation_p.G3E|TCEB1_ENST00000519487.1_Missense_Mutation_p.G3E|TCEB1_ENST00000520210.1_5'UTR|TCEB1_ENST00000520242.1_Missense_Mutation_p.G3E|TCEB1_ENST00000284811.8_Missense_Mutation_p.G3E|TCEB1_ENST00000518127.1_Missense_Mutation_p.G3E|TCEB1_ENST00000522337.1_Missense_Mutation_p.G3E Q15369 ELOC_HUMAN transcription elongation factor B (SIII), polypeptide 1 (15kDa, elongin C) 3 interspecies interaction between organisms|positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|ubiquitin-dependent protein catabolic process|viral reproduction cytosol|nucleoplasm protein binding endometrium(2)|kidney(3)|lung(1)|prostate(1) 7 Breast(64;0.0311) Epithelial(68;0.0136)|all cancers(69;0.0431)|BRCA - Breast invasive adenocarcinoma(89;0.0499) TTTCTCCTCTCCATCTAAAGT 0.408000 15 99 0 0 1 0 0 TENM2 57451 broad.mit.edu 37 5 167674247 167674247 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:167674247A>G ENST00000519204.1 + 26 6058 c.5940A>G c.(5938-5940)gcA>gcG p.A1980A TENM2_ENST00000520394.1_Silent_p.A1862A|TENM2_ENST00000403607.2_Silent_p.A1925A|TENM2_ENST00000518659.1_Silent_p.A2101A|TENM2_ENST00000545108.1_Silent_p.A2100A teneurin transmembrane protein 2 TCCGCATCGCAAGCATCAAGC 0.517000 20 223 0 0 1 0 0 FREM2 341640 broad.mit.edu 37 13 39422641 39422641 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr13:39422641A>G ENST00000280481.7 + 8 6429 c.6213A>G c.(6211-6213)gcA>gcG p.A2071A FREM2_ENST00000482551.1_3'UTR NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 2071 Calx-beta 3. cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) TAGATTTTGCACCTGGAGTCA 0.413000 19 182 0 0 1 0 0 DIAPH2 1730 broad.mit.edu 37 X 96136711 96136711 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chrX:96136711C>T ENST00000324765.8 + 5 928 c.581C>T c.(580-582)cCg>cTg p.P194L DIAPH2_ENST00000373049.4_Missense_Mutation_p.P194L|DIAPH2_ENST00000373061.3_Missense_Mutation_p.P194L|DIAPH2_ENST00000355827.4_Missense_Mutation_p.P194L|DIAPH2_ENST00000373054.4_Missense_Mutation_p.P190L O60879 DIAP2_HUMAN diaphanous-related formin 2 194 GBD/FH3. cell differentiation|cytokinesis|multicellular organismal development|oogenesis cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus receptor binding|Rho GTPase binding p.P194L(1) breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 51 ACCAGCAATCCGGTCAGGTAA 0.343000 20 24 0 0 1 0 0 SLC9A5 6553 broad.mit.edu 37 16 67305080 67305080 + Nonsense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:67305080G>A ENST00000299798.11 + 16 2723 c.2658G>A c.(2656-2658)tgG>tgA p.W886* NM_004594.2 NP_004585.1 Q14940 SL9A5_HUMAN solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5 886 regulation of pH integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 27 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116) CCTCCCACTGGTGCATCCAGT 0.642000 18 36 0 0 1 0 0 SLC45A4 57210 broad.mit.edu 37 8 142228394 142228394 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:142228394T>C ENST00000519067.1 - 4 1495 c.1192A>G c.(1192-1194)Atc>Gtc p.I398V SLC45A4_ENST00000024061.3_Missense_Mutation_p.I398V|SLC45A4_ENST00000433583.2_Missense_Mutation_p.I391V|SLC45A4_ENST00000517878.1_Missense_Mutation_p.I449V Q5BKX6 S45A4_HUMAN solute carrier family 45, member 4 449 transport integral to membrane breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0493) GACGGCTTGATCAGCACCACG 0.687000 20 80 0 0 1 0 0 PIWIL2 55124 broad.mit.edu 37 8 22211843 22211843 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:22211843A>G ENST00000356766.6 + 22 2865 c.2717A>G c.(2716-2718)tAt>tGt p.Y906C PIWIL2_ENST00000521356.1_Intron|PIWIL2_ENST00000454009.2_Missense_Mutation_p.Y906C NM_018068.3 NP_060538.2 Q8TC59 PIWL2_HUMAN piwi-like RNA-mediated gene silencing 2 906 Piwi. DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis chromatoid body|pi-body piRNA binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 46 Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707) CCTACGCATTATGTCTGTGTT 0.458000 5 119 0 0 1 0 0 RIPK4 54101 broad.mit.edu 37 21 43161737 43161737 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr21:43161737G>A ENST00000352483.2 - 9 1824 c.1760C>T c.(1759-1761)aCg>aTg p.T587M RIPK4_ENST00000332512.3_Missense_Mutation_p.T539M|RIPK4_ENST00000544709.1_Missense_Mutation_p.T476M|RIPK4_ENST00000542057.1_Missense_Mutation_p.T476M Q96T11 Q96T11_HUMAN receptor-interacting serine-threonine kinase 4 539 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 GTGCATGGGCGTCCGGCCCTC 0.647000 10 55 0 0 1 0 0 IQCG 84223 broad.mit.edu 37 3 197639589 197639589 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:197639589C>T ENST00000265239.6 - 9 1344 c.920G>A c.(919-921)cGg>cAg p.R307Q IQCG_ENST00000455191.1_Missense_Mutation_p.R307Q NM_032263.3 NP_115639.1 Q9H095 IQCG_HUMAN IQ motif containing G 307 autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.149) TGTATGAGTCCGGGCCTCTTC 0.448000 68 218 0 0 1 0 0 RHOBTB1 9886 broad.mit.edu 37 10 62634740 62634740 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:62634740T>C ENST00000337910.5 - 9 2124 c.1787A>G c.(1786-1788)gAa>gGa p.E596G RHOBTB1_ENST00000357917.4_Missense_Mutation_p.E596G|RHOBTB1_ENST00000490827.1_5'UTR NM_001242359.1|NM_014836.4 NP_001229288.1|NP_055651.1 O94844 RHBT1_HUMAN Rho-related BTB domain containing 1 596 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 23 Prostate(12;0.0112) AGAGAGCACTTCTCCGTCAAT 0.463000 26 96 0 0 1 0 0 BMP2 650 broad.mit.edu 37 20 6759038 6759038 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:6759038A>G ENST00000378827.4 + 3 1712 c.493A>G c.(493-495)Agc>Ggc p.S165G NM_001200.2 NP_001191.1 P12643 BMP2_HUMAN bone morphogenetic protein 2 165 BMP signaling pathway involved in heart induction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction extracellular space activin receptor activity, type II|BMP receptor binding|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|SMAD binding|transforming growth factor beta receptor binding breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1) 13 Simvastatin(DB00641) AGGAAACAATAGCAGTTTCCA 0.408000 20 52 0 0 1 0 0 LSAMP 4045 broad.mit.edu 37 3 116163801 116163801 + Splice_Site SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:116163801T>C ENST00000539563.1 - 2 68 c.67_splice c.e2-1 p.G23_splice LSAMP_ENST00000490035.1_Silent_p.G26G Q13449 LSAMP_HUMAN limbic system-associated membrane protein 26 cell adhesion|nervous system development anchored to membrane|plasma membrane NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215) GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152) GAACAGGCAGTCCTGTGGGAA 0.587000 20 48 0 0 1 0 0 KRT6A 3853 broad.mit.edu 37 12 52882330 52882330 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:52882330G>A ENST00000330722.6 - 7 1274 c.1206C>T c.(1204-1206)tgC>tgT p.C402C NM_005554.3 NP_005545.1 P02538 K2C6A_HUMAN keratin 6A 402 Coil 2.|Rod. cell differentiation|ectoderm development|positive regulation of cell proliferation keratin filament protein binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 39 BRCA - Breast invasive adenocarcinoma(357;0.189) GCAGGTTGGCGCACTGGAAGA 0.562000 40 75 0 0 1 0 0 ACADL 33 broad.mit.edu 37 2 211085431 211085431 + Missense_Mutation SNP T T A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:211085431T>A ENST00000233710.3 - 2 400 c.173A>T c.(172-174)gAc>gTc p.D58V AC006994.2_ENST00000412065.1_RNA NM_001608.3 NP_001599.1 P28330 ACADL_HUMAN acyl-CoA dehydrogenase, long chain 58 carnitine catabolic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis mitochondrial matrix long-chain-acyl-CoA dehydrogenase activity|palmitoyl-CoA oxidase activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1) 14 Renal(323;0.202) Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621) CCGGAAAATGTCATGCTCTGG 0.378000 16 37 0 0 1 0 0 UFL1 23376 broad.mit.edu 37 6 96971092 96971092 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:96971092A>G ENST00000369278.4 + 2 214 c.148A>G c.(148-150)Aca>Gca p.T50A NM_015323.4 NP_056138.1 O94874 UFL1_HUMAN UFM1-specific ligase 1 50 Required for E3 UFM1-protein ligase activity. negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation endoplasmic reticulum|nucleus protein binding|UFM1 conjugating enzyme activity AGTAGTTCATACACTCGATGG 0.363000 27 93 0 0 1 0 0 FLT3 2322 broad.mit.edu 37 13 28601232 28601232 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr13:28601232T>C ENST00000380982.4 - 17 2281 c.2200A>G c.(2200-2202)Aat>Gat p.N734D FLT3_ENST00000537084.1_Missense_Mutation_p.N734D|FLT3_ENST00000241453.7_Missense_Mutation_p.N734D P36888 FLT3_HUMAN fms-related tyrosine kinase 3 734 Protein kinase. positive regulation of cell proliferation integral to plasma membrane ATP binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 12390 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0156)|Ovarian(182;0.0392) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212) Sorafenib(DB00398)|Sunitinib(DB01268) TACCTGGAATTTGGATGTGAT 0.393000 """Mis, O""" """AML, ALL""" 53 147 0 0 1 0 0 IQCK 124152 broad.mit.edu 37 16 19775178 19775178 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:19775178A>G ENST00000320394.6 + 6 1182 c.483A>G c.(481-483)agA>agG p.R161R CTD-2380F24.1_ENST00000568843.1_RNA|IQCK_ENST00000564186.1_Silent_p.R161R|IQCK_ENST00000433597.2_Silent_p.R73R|IQCK_ENST00000562762.1_3'UTR|CTD-2380F24.1_ENST00000564490.1_RNA|CTD-2380F24.1_ENST00000565817.1_RNA|IQCK_ENST00000541926.1_Silent_p.R161R NM_153208.1 NP_694940.1 Q8N0W5 IQCK_HUMAN IQ motif containing K 161 kidney(1)|large_intestine(2)|lung(2)|skin(1) 6 AGAGGAAAAGAACCAAATTCA 0.343000 17 53 0 0 1 0 0 SCO1 6341 broad.mit.edu 37 17 10600695 10600695 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:10600695A>G ENST00000255390.5 - 1 190 c.130T>C c.(130-132)Ttc>Ctc p.F44L SCO1_ENST00000577427.1_Missense_Mutation_p.F44L NM_004589.2 NP_004580.1 O75880 SCO1_HUMAN SCO1 cytochrome c oxidase assembly protein 44 cellular copper ion homeostasis|copper ion transport|generation of precursor metabolites and energy|respiratory chain complex IV assembly mitochondrial inner membrane copper ion binding cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1) 10 CGCGCGCAGAACTGCCTCAGC 0.692000 6 12 0 0 1 0 0 GRM3 2913 broad.mit.edu 37 7 86416334 86416334 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:86416334G>A ENST00000361669.2 + 3 2325 c.1226G>A c.(1225-1227)cGc>cAc p.R409H GRM3_ENST00000546348.1_Intron|GRM3_ENST00000394720.2_Missense_Mutation_p.R407H|GRM3_ENST00000439827.1_Missense_Mutation_p.R409H|GRM3_ENST00000536043.1_Missense_Mutation_p.R281H NM_000840.2 NP_000831.2 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 409 synaptic transmission integral to plasma membrane NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) AAAATGCAGCGCACCCTCTGT 0.498000 63 145 0 0 1 0 0 TTLL1 25809 broad.mit.edu 37 22 43465725 43465725 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr22:43465725T>C ENST00000331018.7 - 4 479 c.239A>G c.(238-240)aAc>aGc p.N80S TTLL1_ENST00000266254.7_Missense_Mutation_p.N80S O95922 TTLL1_HUMAN tubulin tyrosine ligase-like family, member 1 80 TTL. protein polyglutamylation cytoplasm|microtubule ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1) 23 Ovarian(80;0.0694) BRCA - Breast invasive adenocarcinoma(115;0.00461) TCTTTTGATGTTCTTCACCAT 0.453000 52 170 0 0 1 0 0 B4GALNT3 283358 broad.mit.edu 37 12 667687 667687 + Missense_Mutation SNP T T A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:667687T>A ENST00000266383.5 + 18 2634 c.2621T>A c.(2620-2622)aTc>aAc p.I874N NM_173593.3 NP_775864.3 Q6L9W6 B4GN3_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 3 874 Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215) OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262) CCGCACAGCATCATCTTCCTC 0.592000 50 230 0 0 1 0 0 SNORD89 692205 broad.mit.edu 37 2 101889484 101889484 + RNA SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:101889484C>T ENST00000390981.1 - 0 27 NR_003070.1 CACTGCAATTCGGCCTTTTCT 0.483000 27 71 0 0 1 0 0 TRERF1 55809 broad.mit.edu 37 6 42236721 42236721 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:42236721T>C ENST00000541110.1 - 5 1176 c.608A>G c.(607-609)cAg>cGg p.Q203R TRERF1_ENST00000372922.4_Missense_Mutation_p.Q203R|TRERF1_ENST00000372917.4_Missense_Mutation_p.Q203R|TRERF1_ENST00000340840.2_Missense_Mutation_p.Q203R|TRERF1_ENST00000354325.2_Missense_Mutation_p.Q203R Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 203 Gln-rich. cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2) 45 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) CTGGGGCACCTGCTGGTAGCG 0.617000 35 88 0 0 1 0 0 ST5 6764 broad.mit.edu 37 11 8752085 8752085 + Missense_Mutation SNP T T A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:8752085T>A ENST00000534127.1 - 6 1137 c.752A>T c.(751-753)gAc>gTc p.D251V ST5_ENST00000526757.1_Intron|ST5_ENST00000530438.1_Intron|ST5_ENST00000357665.1_Missense_Mutation_p.D251V|ST5_ENST00000313726.6_Missense_Mutation_p.D251V NM_005418.3 NP_005409.3 P78524 ST5_HUMAN suppression of tumorigenicity 5 251 positive regulation of ERK1 and ERK2 cascade protein binding NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 39 Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352) GTAGAAAGAGTCCCGGACAGG 0.627000 37 107 0 0 1 0 0 GPR123 84435 broad.mit.edu 37 10 134942243 134942243 + Missense_Mutation SNP T T A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:134942243T>A ENST00000607359.1 + 16 3068 c.3068T>A c.(3067-3069)aTc>aAc p.I1023N GPR123_ENST00000392606.2_Missense_Mutation_p.I207N|GPR123_ENST00000392607.3_Missense_Mutation_p.I304N Q86SQ6 GP123_HUMAN G protein-coupled receptor 123 304 integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3) 14 all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05) TTCGTGCTCATCCACCACTGC 0.687000 4 55 0 0 1 0 0 EIF2AK4 440275 broad.mit.edu 37 15 40265842 40265842 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:40265842A>G ENST00000263791.5 + 11 1753 c.1710A>G c.(1708-1710)ctA>ctG p.L570L EIF2AK4_ENST00000559624.1_Silent_p.L570L|EIF2AK4_ENST00000382727.2_Silent_p.L570L NM_001013703.2 NP_001013725.2 Q9P2K8 E2AK4_HUMAN eukaryotic translation initiation factor 2 alpha kinase 4 570 translation cytosolic ribosome aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1) 40 all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616) GCAACCGGCTACCCAGTGCTG 0.418000 4 159 0 0 1 0 0 ZNF808 388558 broad.mit.edu 37 19 53058337 53058337 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:53058337T>C ENST00000359798.4 + 5 2348 c.2168T>C c.(2167-2169)gTa>gCa p.V723A NM_001039886.3 NP_001034975.2 Q8N4W9 ZN808_HUMAN zinc finger protein 808 723 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(8)|kidney(3)|lung(12)|urinary_tract(1) 24 OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213) TCATCCCTTGTATGCCATCGT 0.433000 77 261 0 0 1 0 0 ZNF57 126295 broad.mit.edu 37 19 2917426 2917426 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:2917426A>G ENST00000306908.5 + 4 955 c.807A>G c.(805-807)agA>agG p.R269R AC006277.2_ENST00000520090.2_RNA|ZNF57_ENST00000523428.1_Silent_p.R237R NM_173480.2 NP_775751.1 Q68EA5 ZNF57_HUMAN zinc finger protein 57 269 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 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)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18) CATTTCAAAGACACATGACAA 0.453000 7 107 0 0 1 0 0 FAT1 2195 broad.mit.edu 37 4 187542754 187542754 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:187542754G>A ENST00000441802.2 - 10 5195 c.4986C>T c.(4984-4986)aaC>aaT p.N1662N NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 1662 Cadherin 14. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 TCGGAGAGGCGTTGTCAGCAA 0.408000 HNSCC(5;0.00058) 12 65 0 0 1 0 0 HSD3B7 80270 broad.mit.edu 37 16 30997480 30997480 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:30997480T>C ENST00000262520.6 + 3 567 c.277T>C c.(277-279)Ttt>Ctt p.F93L HSD3B7_ENST00000353250.5_Missense_Mutation_p.F93L|AC135048.1_ENST00000602217.1_Silent_p.K18K|HSD3B7_ENST00000297679.5_Missense_Mutation_p.F93L NM_001142777.1 NP_001136249.1 Q9H2F3 3BHS7_HUMAN hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 93 bile acid biosynthetic process endoplasmic reticulum membrane|integral to membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 GGTAGACGTGTTTGGCAGGGC 0.622000 18 33 0 0 1 0 0 LRMP 4033 broad.mit.edu 37 12 25260936 25260936 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:25260936T>C ENST00000354454.3 + 21 2271 c.1442T>C c.(1441-1443)cTa>cCa p.L481P LRMP_ENST00000548766.1_Missense_Mutation_p.L481P|LRMP_ENST00000547044.1_Missense_Mutation_p.L481P NM_006152.3 NP_006143.2 Q12912 LRMP_HUMAN lymphoid-restricted membrane protein 537 vesicle fusion|vesicle targeting endoplasmic reticulum membrane|integral to plasma membrane breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 19 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11) TGGACGTCTCTAGAACATATC 0.463000 7 137 0 0 1 0 0 PFKL 5211 broad.mit.edu 37 21 45745855 45745855 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr21:45745855A>G ENST00000403390.1 + 21 2142 c.2142A>G c.(2140-2142)ccA>ccG p.P714P PFKL_ENST00000349048.4_Silent_p.P667P P17858 K6PL_HUMAN phosphofructokinase, liver 667 fructose 6-phosphate metabolic process|glycolysis|protein oligomerization 6-phosphofructokinase complex 6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 Colorectal(79;0.0811) GTGGCGCTCCAACCCCCTTTG 0.652000 10 23 0 0 1 0 0 ATP5G2 517 broad.mit.edu 37 12 54063664 54063664 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:54063664C>T ENST00000338662.5 - 3 1361 c.156G>A c.(154-156)ctG>ctA p.L52L ATP5G2_ENST00000602871.1_Silent_p.L36L|ATP5G2_ENST00000394349.3_Silent_p.L93L|ATP5G2_ENST00000549164.1_Silent_p.L36L NM_001002031.2 NP_001002031.1 Q06055 AT5G2_HUMAN ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9) 36 ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o) hydrogen ion transmembrane transporter activity|lipid binding kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1) 6 CCTCATCTGTCAGTATCTCCG 0.557000 39 54 0 0 1 0 0 CNTRL 11064 broad.mit.edu 37 9 123888058 123888058 + Missense_Mutation SNP A A C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:123888058A>C ENST00000373855.1 + 14 2129 c.1869A>C c.(1867-1869)gaA>gaC p.E623D CNTRL_ENST00000238341.5_Missense_Mutation_p.E623D|CNTRL_ENST00000373847.1_Missense_Mutation_p.E71D|CNTRL_ENST00000373850.1_Missense_Mutation_p.E71D Q7Z7A1 CNTRL_HUMAN centriolin 623 cell division|G2/M transition of mitotic cell cycle centrosome|cytosol protein binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3) 20 GGTTGCAAGAATACCTGGGGA 0.453000 4 218 0 0 1 0 0 APAF1 317 broad.mit.edu 37 12 99077025 99077025 + Silent SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:99077025C>A ENST00000357310.1 + 15 2728 c.2151C>A c.(2149-2151)gcC>gcA p.A717A APAF1_ENST00000551964.1_Silent_p.A717A|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000550527.1_Silent_p.A706A|APAF1_ENST00000549007.1_Silent_p.A717A|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000547045.1_Silent_p.A717A|APAF1_ENST00000339433.3_Silent_p.A717A|APAF1_ENST00000359972.2_Silent_p.A706A NM_181868.1 NP_863658.1 O14727 APAF_HUMAN apoptotic peptidase activating factor 1 717 activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development cytosol|Golgi apparatus|nucleus ATP binding|caspase activator activity|protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1) 42 Adenosine triphosphate(DB00171) TTCTCTTAGCCACTGGGTCAA 0.398000 34 159 2.75727e-19 2.90337e-19 1 1 0 MPRIP 23164 broad.mit.edu 37 17 17045965 17045965 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:17045965T>C ENST00000395811.5 + 8 1010 c.921T>C c.(919-921)ttT>ttC p.F307F MPRIP_ENST00000444976.1_Silent_p.F307F|MPRIP_ENST00000341712.4_Silent_p.F307F|MPRIP_ENST00000395804.3_Silent_p.F307F NM_015134.3|NM_201274.3 NP_055949.2|NP_958431.2 Q6WCQ1 MPRIP_HUMAN myosin phosphatase Rho interacting protein 307 Interaction with F-actin (By similarity). cytoplasm|cytoskeleton actin binding biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 31 TTGAAAAGTTTGAGGCCTTGG 0.607000 33 85 0 0 1 0 0 IL22RA2 116379 broad.mit.edu 37 6 137466909 137466909 + Splice_Site SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:137466909T>C ENST00000296980.2 - 7 944 c.642_splice c.e7-1 p.E215_splice IL22RA2_ENST00000349184.4_Splice_Site_p.E183_splice|IL22RA2_ENST00000339602.3_Splice_Site_p.R126_splice NM_052962.2 NP_443194.1 Q969J5 I22R2_HUMAN interleukin 22 receptor, alpha 2 215 Fibronectin type-III 3. regulation of tyrosine phosphorylation of Stat3 protein extracellular space interleukin-22 receptor activity endometrium(1)|large_intestine(1)|lung(3) 5 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000313)|OV - Ovarian serous cystadenocarcinoma(155;0.00407) AACCTTTTGCTCCTACACACG 0.413000 13 34 0 0 1 0 0 KRIT1 889 broad.mit.edu 37 7 91870364 91870364 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:91870364A>G ENST00000394507.1 - 6 988 c.205T>C c.(205-207)Ttg>Ctg p.L69L KRIT1_ENST00000412043.2_Silent_p.L69L|KRIT1_ENST00000394503.2_Silent_p.L69L|KRIT1_ENST00000340022.2_Silent_p.L69L|KRIT1_ENST00000394505.2_Silent_p.L69L NM_194456.1 NP_919438.1 O00522 KRIT1_HUMAN KRIT1, ankyrin repeat containing 69 angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction cell-cell junction|cytoskeleton protein binding|small GTPase regulator activity autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1) 22 all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) ACGTAATCCAATATGCCTTGT 0.338000 6 88 0 0 1 0 0 TEX29 121793 broad.mit.edu 37 13 111995122 111995122 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr13:111995122A>G ENST00000283547.1 + 5 388 c.259A>G c.(259-261)Aaa>Gaa p.K87E NM_152324.1 NP_689537.1 Q8N6K0 CM016_HUMAN testis expressed 29 87 integral to membrane GGAGAGCAGGAAAGAAAAGGC 0.547000 4 36 0 0 1 0 0 ST3GAL5 8869 broad.mit.edu 37 2 86067278 86067278 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:86067278G>A ENST00000377332.3 - 7 1354 c.1246C>T c.(1246-1248)Cgt>Tgt p.R416C ST3GAL5_ENST00000393805.1_Missense_Mutation_p.R388C|ST3GAL5_ENST00000393808.3_Missense_Mutation_p.R393C NM_003896.3 NP_003887.3 Q9UNP4 SIAT9_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 5 416 ganglioside biosynthetic process|protein glycosylation integral to Golgi membrane|integral to plasma membrane lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 15 CAAAATTCACGATCAATGCCT 0.413000 22 72 0 0 1 0 0 SCUBE2 57758 broad.mit.edu 37 11 9068952 9068952 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:9068952G>A ENST00000457346.2 - 16 2027 c.1953C>T c.(1951-1953)cgC>cgT p.R651R SCUBE2_ENST00000520467.1_Silent_p.R651R|SCUBE2_ENST00000450649.2_Silent_p.R496R|RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000309263.3_Silent_p.R622R Q9NQ36 SCUB2_HUMAN signal peptide, CUB domain, EGF-like 2 622 extracellular region calcium ion binding breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 42 all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116) ACTCTGCCTGGCGTTCAGATG 0.557000 5 85 0 0 1 0 0 GSG1 83445 broad.mit.edu 37 12 13243713 13243713 + Missense_Mutation SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:13243713G>T ENST00000337630.6 - 2 116 c.49C>A c.(49-51)Cta>Ata p.L17I GSG1_ENST00000396302.3_Missense_Mutation_p.L17I|GSG1_ENST00000537302.1_Missense_Mutation_p.L17I|GSG1_ENST00000324458.8_Missense_Mutation_p.L30I|GSG1_ENST00000457134.2_Missense_Mutation_p.L17I|GSG1_ENST00000432710.2_Missense_Mutation_p.L30I|GSG1_ENST00000396310.2_Missense_Mutation_p.L14I|GSG1_ENST00000351606.6_Missense_Mutation_p.L30I NM_153823.3 NP_722545.2 Q2KHT4 GSG1_HUMAN germ cell associated 1 17 endoplasmic reticulum membrane|integral to membrane endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1) 10 Prostate(47;0.183) BRCA - Breast invasive adenocarcinoma(232;0.15) ATGGCAGATAGGAGTGTCCGC 0.562000 22 105 2.70639e-06 2.77089e-06 1 1 0 XAB2 56949 broad.mit.edu 37 19 7692197 7692197 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:7692197A>G ENST00000358368.4 - 4 491 c.454T>C c.(454-456)Tat>Cat p.Y152H XAB2_ENST00000534844.1_Missense_Mutation_p.Y149H NM_020196.2 NP_064581.2 Q9HCS7 SYF1_HUMAN XPA binding protein 2 152 transcription, DNA-dependent|transcription-coupled nucleotide-excision repair catalytic step 2 spliceosome|nucleoplasm protein binding breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 26 AAGCGCAGATACAGGGGCCAA 0.647000 Direct reversal of damage;Nucleotide excision repair (NER) 12 41 0 0 1 0 0 GREM2 64388 broad.mit.edu 37 1 240656306 240656306 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:240656306C>T ENST00000318160.4 - 2 736 c.470G>A c.(469-471)tGc>tAc p.C157Y NM_022469.3 NP_071914.3 Q9H772 GREM2_HUMAN gremlin 2, DAN family BMP antagonist 157 CTCK. BMP signaling pathway extracellular space cytokine activity endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 10 all_cancers(173;0.0196) OV - Ovarian serous cystadenocarcinoma(106;0.0123) CACGGACATGCACCGGCACTG 0.711000 5 107 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76455109 76455109 + Missense_Mutation SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:76455109G>T ENST00000389840.5 - 61 9917 c.9793C>A c.(9793-9795)Ctg>Atg p.L3265M DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.L3274M dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) ATCCGGGACAGCTTCTCTTGT 0.587000 4 140 0.150653 0.150988 1 1 0 DVL1 1855 broad.mit.edu 37 1 1277865 1277865 + Splice_Site SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:1277865C>T ENST00000378888.5 - 3 525 c.e3-1 DVL1_ENST00000378891.5_Splice_Site O14640 DVL1_HUMAN dishevelled segment polarity protein 1 canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome frizzled binding|identical protein binding|protein kinase binding|signal transducer activity endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 13 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) CCAGGACCAGCTGTGGAGGGA 0.701000 11 17 0 0 1 0 0 CRK 1398 broad.mit.edu 37 17 1340185 1340185 + Nonsense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:1340185C>T ENST00000300574.2 - 2 646 c.506G>A c.(505-507)tGg>tAg p.W169* CRK_ENST00000574295.1_Intron|CRK_ENST00000398970.5_Nonsense_Mutation_p.W169*|CRK_ENST00000572145.1_5'UTR NM_016823.3 NP_058431.2 P46108 CRK_HUMAN v-crk avian sarcoma virus CT10 oncogene homolog 169 SH3 1. actin cytoskeleton organization|activation of MAPKK activity|blood coagulation|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of transcription from RNA polymerase II promoter cytosol|endosome|nucleus|plasma membrane protein binding|SH2 domain binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2) 9 UCEC - Uterine corpus endometrioid carcinoma (25;0.083) CGCATTCCACCACTGCTCTTC 0.502000 54 136 0 0 1 0 0 N4BP1 9683 broad.mit.edu 37 16 48596173 48596173 + Silent SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:48596173C>A ENST00000262384.3 - 2 617 c.381G>T c.(379-381)gtG>gtT p.V127V RP11-44I10.3_ENST00000563994.1_RNA NM_153029.3 NP_694574.3 O75113 N4BP1_HUMAN NEDD4 binding protein 1 127 negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination nucleolus|PML body breast(3)|kidney(2)|lung(11)|urinary_tract(1) 17 all_cancers(37;0.179)|all_lung(18;0.11) TAGCCATGACCACAGCCTCAG 0.438000 16 53 1.5739e-10 1.63252e-10 1 1 0 CELSR3 1951 broad.mit.edu 37 3 48698495 48698495 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:48698495G>A ENST00000544264.1 - 1 1853 c.1573C>T c.(1573-1575)Cgc>Tgc p.R525C CELSR3_ENST00000164024.4_Missense_Mutation_p.R525C Q9NYQ7 CELR3_HUMAN cadherin, EGF LAG seven-pass G-type receptor 3 525 Cadherin 2. homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) GTGGCCGAGCGCGGCCCGGGT 0.637000 16 45 0 0 1 0 0 AHCYL2 23382 broad.mit.edu 37 7 129064949 129064949 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:129064949A>G ENST00000325006.3 + 15 1729 c.1675A>G c.(1675-1677)Aag>Gag p.K559E AHCYL2_ENST00000446544.2_Missense_Mutation_p.K558E|AHCYL2_ENST00000490911.1_Missense_Mutation_p.K456E|AHCYL2_ENST00000446212.1_Missense_Mutation_p.K457E|AHCYL2_ENST00000474594.1_Missense_Mutation_p.K456E|AHCYL2_ENST00000531335.2_Missense_Mutation_p.K478E NM_001130720.2|NM_015328.3 NP_001124192.1|NP_056143.1 Q96HN2 SAHH3_HUMAN adenosylhomocysteinase-like 2 559 one-carbon metabolic process adenosylhomocysteinase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 22 GGGTCGCTATAAGCAGGATGT 0.448000 29 81 0 0 1 0 0 MTM1 4534 broad.mit.edu 37 X 149839965 149839965 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chrX:149839965G>A ENST00000370396.2 + 15 1763 c.1709G>A c.(1708-1710)cGg>cAg p.R570Q MTM1_ENST00000413012.2_Missense_Mutation_p.R533Q|MTM1_ENST00000542741.1_3'UTR|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000543350.1_Missense_Mutation_p.R455Q NM_000252.2 NP_000243.1 Q13496 MTM1_HUMAN myotubularin 1 570 endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization filopodium|late endosome|plasma membrane|ruffle intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Acute lymphoblastic leukemia(192;6.56e-05) TACATAAAGCGGCTTGAGGAA 0.512000 37 19 0 0 1 0 0 COL4A6 1288 broad.mit.edu 37 X 107449632 107449632 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chrX:107449632T>C ENST00000394872.2 - 11 839 c.608A>G c.(607-609)cAa>cGa p.Q203R COL4A6_ENST00000545689.1_Intron|COL4A6_ENST00000372216.4_Intron|COL4A6_ENST00000334504.7_Intron|COL4A6_ENST00000538570.1_Intron Q14031 CO4A6_HUMAN collagen, type IV, alpha 6 206 Triple-helical region. cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 92 GAATGGAGGTTGCCCTTGCTC 0.433000 Alport syndrome with Diffuse Leiomyomatosis 14 12 0 0 1 0 0 PRDM2 7799 broad.mit.edu 37 1 14105421 14105421 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:14105421T>C ENST00000235372.7 + 8 1987 c.1131T>C c.(1129-1131)cgT>cgC p.R377R PRDM2_ENST00000311066.5_Silent_p.R377R|PRDM2_ENST00000343137.4_Silent_p.R176R|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000413440.1_Silent_p.R176R NM_012231.4 NP_036363.2 Q13029 PRDM2_HUMAN PR domain containing 2, with ZNF domain 377 Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 55 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) GGCTTGAGCGTCACATGCATA 0.453000 5 102 0 0 1 0 0 CROCC 9696 broad.mit.edu 37 1 17257070 17257070 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:17257070C>T ENST00000375541.5 + 7 899 c.830C>T c.(829-831)gCg>gTg p.A277V CROCC_ENST00000467938.1_3'UTR NM_014675.3 NP_055490.3 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil, rootletin 277 cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1) 62 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) CGGGAGGCGGCGTGGAGGCGC 0.662000 9 40 0 0 1 0 0 AKAP4 8852 broad.mit.edu 37 X 49957582 49957582 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chrX:49957582T>C ENST00000376056.2 - 5 1905 c.1755A>G c.(1753-1755)aaA>aaG p.K585K AKAP4_ENST00000358526.2_Silent_p.K594K|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Silent_p.K211K|AKAP4_ENST00000376064.3_Silent_p.K585K Q5JQC9 AKAP4_HUMAN A kinase (PRKA) anchor protein 4 594 cell projection organization|single fertilization|sperm motility cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum protein kinase A binding NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4) 41 Ovarian(276;0.236) CTGAAAGTGCTTTGGCACTTT 0.468000 36 30 0 0 1 0 0 LTA4H 4048 broad.mit.edu 37 12 96394781 96394781 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:96394781A>G ENST00000228740.2 - 19 1963 c.1822T>C c.(1822-1824)Tta>Cta p.L608L LTA4H_ENST00000413268.2_3'UTR|LTA4H_ENST00000552789.1_Silent_p.L584L|RP11-256L6.3_ENST00000551849.1_RNA NM_000895.2 NP_000886.1 P09960 LKHA4_HUMAN leukotriene A4 hydrolase 608 hormone biosynthetic process|inflammatory response|leukotriene biosynthetic process|peptide catabolic process|prostanoid metabolic process|proteolysis cytosol|nucleus aminopeptidase activity|epoxide hydrolase activity|leukotriene-A4 hydrolase activity|metallopeptidase activity|protein binding|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1) 12 TCCACTTTTAAGTCTTTCCCC 0.388000 17 110 0 0 1 0 0 CHD5 26038 broad.mit.edu 37 1 6173014 6173014 + Missense_Mutation SNP G G C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:6173014G>C ENST00000262450.3 - 34 5056 c.4957C>G c.(4957-4959)Ctg>Gtg p.L1653V CHD5_ENST00000378021.1_Missense_Mutation_p.L510V NM_015557.2 NP_056372.1 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 1653 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 16 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) ATCAAGCTCAGCTCCAGCTTG 0.582000 20 75 0 0 1 0 0 OPLAH 26873 broad.mit.edu 37 8 145106259 145106259 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:145106259A>G ENST00000426825.1 - 28 3916 c.3835T>C c.(3835-3837)Tat>Cat p.Y1279H OPLAH_ENST00000534424.1_5'UTR|CTD-3065J16.6_ENST00000528912.1_RNA NM_017570.3 NP_060040.1 O14841 OPLA_HUMAN 5-oxoprolinase (ATP-hydrolysing) 1279 5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 20 all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) L-Glutamic Acid(DB00142) CGATACTCATAGACGCTGCCG 0.692000 21 78 0 0 1 0 0 IQSEC1 9922 broad.mit.edu 37 3 12977561 12977561 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:12977561G>A ENST00000273221.4 - 3 1213 c.997C>T c.(997-999)Cgg>Tgg p.R333W NM_014869.5 NP_055684.3 Q6DN90 IQEC1_HUMAN IQ motif and Sec7 domain 1 333 regulation of ARF protein signal transduction cytoplasm|nucleus ARF guanyl-nucleotide exchange factor activity breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 GCCCGTAGCCGCAGGTCCGAC 0.682000 28 73 0 0 1 0 0 IL9R 3581 broad.mit.edu 37 X 155233458 155233458 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chrX:155233458A>G ENST00000424344.3 + 5 675 c.308A>G c.(307-309)cAc>cGc p.H103R IL9R_ENST00000540897.1_Missense_Mutation_p.T159A|IL9R_ENST00000369423.2_Missense_Mutation_p.T169A|IL9R_ENST00000244174.5_Missense_Mutation_p.H124R Q01113 IL9R_HUMAN interleukin 9 receptor 124 cell proliferation extracellular space|integral to plasma membrane interleukin-9 receptor activity NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1) 23 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) ACTTTCCACCACTGCATGTCT 0.622000 15 56 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1268602 1268602 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:1268602A>G ENST00000447027.1 + 31 10559 c.10501A>G c.(10501-10503)Acc>Gcc p.T3501A RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.T3498A Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 3498 7 X Cys-rich subdomain repeats.|Thr-rich. Missing (in Ref. 6; AAB61398). cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CCCAGCAGCAACCACCAGTAC 0.662000 4 266 0 0 1 0 0 AOX1 316 broad.mit.edu 37 2 201534320 201534320 + Missense_Mutation SNP T T A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:201534320T>A ENST00000374700.2 + 34 4062 c.3821T>A c.(3820-3822)tTc>tAc p.F1274Y AOX1_ENST00000485106.1_3'UTR NM_001159.3 NP_001150.3 Q06278 ADO_HUMAN aldehyde oxidase 1 1274 inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 81 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) TCGGGGGTGTTCCTGGGGTGT 0.498000 88 266 0 0 1 0 0 CHUK 1147 broad.mit.edu 37 10 101969541 101969541 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:101969541T>C ENST00000370397.7 - 10 1025 c.939A>G c.(937-939)gtA>gtG p.V313V NM_001278.3 NP_001269.3 O15111 IKKA_HUMAN conserved helix-loop-helix ubiquitous kinase 313 I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|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 CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus ATP binding|identical protein binding|IkappaB kinase activity breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1) 27 Colorectal(252;0.117) Epithelial(162;2.05e-10)|all cancers(201;1.91e-08) TTAGGATGTGTACTATCTGTA 0.328000 7 24 0 0 1 0 0 HEATR5B 54497 broad.mit.edu 37 2 37267572 37267572 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:37267572A>G ENST00000233099.5 - 20 3041 c.2946T>C c.(2944-2946)ctT>ctC p.L982L HEATR5B_ENST00000354531.2_Silent_p.L982L NM_019024.1 NP_061897.1 Q9P2D3 HTR5B_HUMAN HEAT repeat containing 5B 982 binding breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 77 all_hematologic(82;0.21) ACAGCAAGGTAAGAACTAGAG 0.423000 25 87 0 0 1 0 0 ZBTB20 26137 broad.mit.edu 37 3 114070150 114070150 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:114070150G>A ENST00000462705.1 - 11 1377 c.556C>T c.(556-558)Cgc>Tgc p.R186C ZBTB20_ENST00000357258.3_Missense_Mutation_p.R186C|ZBTB20_ENST00000471418.1_Missense_Mutation_p.R186C|ZBTB20_ENST00000464560.1_Missense_Mutation_p.R186C|ZBTB20_ENST00000474710.1_Missense_Mutation_p.R259C|ZBTB20_ENST00000393785.2_Missense_Mutation_p.R186C|ZBTB20_ENST00000481632.1_Missense_Mutation_p.R186C NM_001164343.1 NP_001157815.1 Q9HC78 ZBT20_HUMAN zinc finger and BTB domain containing 20 259 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191) TAAAAAGAGCGCTCGCCGCTG 0.642000 4 101 0 0 1 0 0 DCAF5 8816 broad.mit.edu 37 14 69520911 69520911 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:69520911T>C ENST00000341516.5 - 9 2639 c.2492A>G c.(2491-2493)aAc>aGc p.N831S DCAF5_ENST00000554215.1_Missense_Mutation_p.N749S|DCAF5_ENST00000556847.1_Missense_Mutation_p.N749S|DCAF5_ENST00000557386.1_Missense_Mutation_p.N830S NM_003861.2 NP_003852.1 Q96JK2 DCAF5_HUMAN DDB1 and CUL4 associated factor 5 831 CUL4 RING ubiquitin ligase complex breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2) 29 ATTGTTGTGGTTGGCACAGAT 0.592000 14 57 0 0 1 0 0 ST8SIA3 51046 broad.mit.edu 37 18 55024150 55024150 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr18:55024150A>G ENST00000324000.3 + 3 2343 c.309A>G c.(307-309)gaA>gaG p.E103E NM_015879.2 NP_056963.2 O43173 SIA8C_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 103 glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3) 36 READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205) TTAGGCAAGAAATTCTTCAGC 0.323000 3 27 0 0 1 0 0 LRRC4 64101 broad.mit.edu 37 7 127669070 127669070 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:127669070C>T ENST00000249363.3 - 2 1881 c.1624G>A c.(1624-1626)Gcc>Acc p.A542T SND1_ENST00000354725.3_Intron NM_022143.4 NP_071426.1 Q9HBW1 LRRC4_HUMAN leucine rich repeat containing 4 542 cell junction|integral to membrane|postsynaptic membrane breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2) 26 Lung(243;0.124) ATCAACATGGCGGCAGCTAGC 0.517000 9 20 0 0 1 0 0 MLXIP 22877 broad.mit.edu 37 12 122612505 122612505 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:122612505G>A ENST00000319080.6 + 3 728 c.596G>A c.(595-597)cGc>cAc p.R199H Q9HAP2 MLXIP_HUMAN MLX interacting protein 199 Required for cytoplasmic localization. regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial outer membrane|nucleus DNA binding NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3) 20 all_neural(191;0.0837)|Medulloblastoma(191;0.163) Lung NSC(355;0.0659) OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233) GACGAGCACCGCCGGCCGGAG 0.607000 7 239 0 0 1 0 0 ALPK3 57538 broad.mit.edu 37 15 85401778 85401778 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:85401778T>C ENST00000258888.5 + 6 4582 c.4415T>C c.(4414-4416)cTg>cCg p.L1472P NM_020778.4 NP_065829.3 Q96L96 ALPK3_HUMAN alpha-kinase 3 1472 heart development nucleus ATP binding|protein serine/threonine kinase activity NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 BRCA - Breast invasive adenocarcinoma(143;0.0587) GCCAAAGACCTGCTGAAAGGT 0.617000 5 18 0 0 1 0 0 BTBD3 22903 broad.mit.edu 37 20 11903761 11903761 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:11903761T>C ENST00000405977.1 + 5 1641 c.1016T>C c.(1015-1017)gTa>gCa p.V339A BTBD3_ENST00000378226.2_Missense_Mutation_p.V339A|BTBD3_ENST00000399006.2_Missense_Mutation_p.V278A|BTBD3_ENST00000254977.3_Missense_Mutation_p.V278A Q9Y2F9 BTBD3_HUMAN BTB (POZ) domain containing 3 339 breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2) 34 CAGTCCGGGGTATTAACTCTC 0.473000 6 151 0 0 1 0 0 SLC22A3 6581 broad.mit.edu 37 6 160858095 160858095 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:160858095T>C ENST00000392145.1 + 7 1167 c.1140T>C c.(1138-1140)taT>taC p.Y380Y SLC22A3_ENST00000275300.2_Silent_p.Y380Y O75751 S22A3_HUMAN solute carrier family 22 (organic cation transporter), member 3 380 integral to plasma membrane|membrane fraction protein binding|quaternary ammonium group transmembrane transporter activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218) OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06) GCAACCTCTATATAGACTTTT 0.507000 10 199 0 0 1 0 0 DOLPP1 57171 broad.mit.edu 37 9 131846992 131846992 + Missense_Mutation SNP T T G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:131846992T>G ENST00000372546.4 + 2 154 c.122T>G c.(121-123)gTa>gGa p.V41G DOLPP1_ENST00000540102.1_5'UTR|DOLPP1_ENST00000406974.3_Missense_Mutation_p.V41G NM_020438.4 NP_065171.2 Q86YN1 DOPP1_HUMAN dolichyldiphosphatase 1 41 dolichyl diphosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to endoplasmic reticulum membrane dolichyldiphosphatase activity endometrium(3)|kidney(2)|lung(7)|skin(1) 13 CTCAGCCCTGTATTTGTCATC 0.577000 7 630 0 0 1 0 0 CD226 10666 broad.mit.edu 37 18 67562997 67562997 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr18:67562997A>G ENST00000280200.4 - 4 935 c.667T>C c.(667-669)Tac>Cac p.Y223H CD226_ENST00000577287.1_Missense_Mutation_p.Y68H|CD226_ENST00000582621.1_Missense_Mutation_p.Y223H|CD226_ENST00000581982.1_Missense_Mutation_p.Y68H NM_006566.2 NP_006557.2 Q15762 CD226_HUMAN CD226 molecule 223 Ig-like C2-type 2. cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target cell surface|integral to plasma membrane|membrane raft cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1) 24 Esophageal squamous(42;0.129) GCCTGCAAGTAGCAGCGGTAA 0.527000 50 188 0 0 1 0 0 SPDEF 25803 broad.mit.edu 37 6 34506121 34506121 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:34506121T>C ENST00000374037.3 - 6 1352 c.938A>G c.(937-939)tAc>tGc p.Y313C SPDEF_ENST00000544425.1_Missense_Mutation_p.Y297C NM_012391.2 NP_036523.1 O95238 SPDEF_HUMAN SAM pointed domain containing ETS transcription factor 313 negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3) 15 GCCCTTCTTGTAATACTGGCG 0.612000 46 156 0 0 1 0 0 SLC22A15 55356 broad.mit.edu 37 1 116607106 116607106 + Missense_Mutation SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:116607106A>T ENST00000369503.4 + 10 1472 c.1342A>T c.(1342-1344)Att>Ttt p.I448F NM_018420.2 NP_060890.2 Q8IZD6 S22AF_HUMAN solute carrier family 22, member 15 448 ion transport integral to membrane transmembrane transporter activity endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1) 17 Lung SC(450;0.184) all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05) Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12) TGGTGGGATTATTGCTCCCTT 0.398000 12 29 0 0 1 0 0 ADAD1 132612 broad.mit.edu 37 4 123314804 123314804 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:123314804T>C ENST00000296513.2 + 6 775 c.590T>C c.(589-591)gTa>gCa p.V197A ADAD1_ENST00000492454.1_3'UTR|ADAD1_ENST00000388725.2_Missense_Mutation_p.V179A|ADAD1_ENST00000388724.2_Missense_Mutation_p.V197A NM_139243.3 NP_640336.1 Q96M93 ADAD1_HUMAN adenosine deaminase domain containing 1 (testis-specific) 197 multicellular organismal development|RNA processing nucleus adenosine deaminase activity|double-stranded RNA binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 35 GTTTCAAAAGTACATTATGGT 0.318000 8 44 0 0 1 0 0 CCDC151 115948 broad.mit.edu 37 19 11541547 11541547 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:11541547T>C ENST00000356392.4 - 3 503 c.416A>G c.(415-417)aAg>aGg p.K139R CCDC151_ENST00000586836.1_5'UTR|CCDC151_ENST00000545100.1_Missense_Mutation_p.K85R|CCDC151_ENST00000591179.1_Intron NM_145045.4 NP_659482.3 A5D8V7 CC151_HUMAN coiled-coil domain containing 151 139 endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1) 12 CAGGTATGGCTTCTCCCACTT 0.577000 48 134 0 0 1 0 0 ADAM30 11085 broad.mit.edu 37 1 120437837 120437837 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:120437837A>G ENST00000369400.1 - 1 1281 c.1123T>C c.(1123-1125)Tat>Cat p.Y375H NM_021794.3 NP_068566.2 Q9UKF2 ADA30_HUMAN ADAM metallopeptidase domain 30 375 Peptidase M12B. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2) 38 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138) Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117) AAAGAGATATAACTGCAATTG 0.398000 48 147 0 0 1 0 0 OR8S1 341568 broad.mit.edu 37 12 48921859 48921859 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:48921859G>A ENST00000310194.1 + 2 1053 c.1053G>A c.(1051-1053)ctG>ctA p.L351L OR8S1_ENST00000551654.1_3'UTR NM_001005203.2 NP_001005203.2 Q8NH09 OR8S1_HUMAN olfactory receptor, family 8, subfamily S, member 1 351 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4) 22 GCTCCGCGCTGCGCGCGGCGC 0.662000 4 26 0 0 1 0 0 IKBKAP 8518 broad.mit.edu 37 9 111679848 111679848 + Silent SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:111679848G>T ENST00000374647.5 - 9 1150 c.843C>A c.(841-843)ccC>ccA p.P281P IKBKAP_ENST00000537196.1_5'UTR NM_003640.3 NP_003631.2 O95163 ELP1_HUMAN inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein 281 immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex phosphorylase kinase regulator activity|protein binding|signal transducer activity NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 53 CTTTAAGGAAGGGAAGTGTAA 0.378000 27 86 6.36457e-07 6.52959e-07 1 1 0 TMEM62 80021 broad.mit.edu 37 15 43461855 43461855 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:43461855G>A ENST00000260403.2 + 11 1640 c.1361G>A c.(1360-1362)cGa>cAa p.R454Q TMEM62_ENST00000569369.1_3'UTR NM_024956.3 NP_079232.3 Q0P6H9 TMM62_HUMAN transmembrane protein 62 454 integral to membrane breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;4.23e-07) TTTAGATATCGAGGATACCCA 0.378000 7 45 0 0 1 0 0 ZBTB8A 653121 broad.mit.edu 37 1 33058778 33058778 + Silent SNP C C T rs144529739 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:33058778C>T ENST00000373510.4 + 3 475 c.246C>T c.(244-246)ttC>ttT p.F82F ZBTB8A_ENST00000316459.4_Silent_p.F82F|RP1-27O5.3_ENST00000480336.1_3'UTR NM_001040441.1 NP_001035531.1 Q96BR9 ZBT8A_HUMAN zinc finger and BTB domain containing 8A 82 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.F82F(1) cervix(2)|large_intestine(2)|lung(2)|prostate(1) 7 TCTTGGACTTCGTATATTCTG 0.413000 35 129 0 0 1 0 0 FRYL 285527 broad.mit.edu 37 4 48517166 48517166 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:48517166G>A ENST00000358350.4 - 56 8420 c.7816C>T c.(7816-7818)Cca>Tca p.P2606S FRYL_ENST00000503238.1_Missense_Mutation_p.P2606S|FRYL_ENST00000264319.7_Missense_Mutation_p.P2S|FRYL_ENST00000537810.1_Missense_Mutation_p.P2606S|FRYL_ENST00000507873.2_Missense_Mutation_p.P2S NM_015030.1 NP_055845.1 O94915 FRYL_HUMAN FRY-like 2606 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 AGAGGCTCTGGCATTTCAGTT 0.403000 49 147 0 0 1 0 0 SLC2A13 114134 broad.mit.edu 37 12 40345097 40345097 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:40345097T>C ENST00000280871.4 - 4 1046 c.996A>G c.(994-996)ctA>ctG p.L332L SLC2A13_ENST00000380858.1_Silent_p.L332L NM_052885.3 NP_443117.3 Q96QE2 MYCT_HUMAN solute carrier family 2 (facilitated glucose transporter), member 13 332 integral to membrane|plasma membrane myo-inositol:hydrogen symporter activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 29 Lung NSC(34;0.105)|all_lung(34;0.123) GGAACATTTGTAGGCCACAAC 0.368000 HNSCC(50;0.14) 11 90 0 0 1 0 0 MAGI3 260425 broad.mit.edu 37 1 114133184 114133184 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:114133184A>G ENST00000369615.1 + 5 904 c.842A>G c.(841-843)gAc>gGc p.D281G MAGI3_ENST00000369617.4_Missense_Mutation_p.D281G|MAGI3_ENST00000369611.4_Missense_Mutation_p.D281G|MAGI3_ENST00000307546.9_Missense_Mutation_p.D281G NM_152900.2 NP_690864.2 Q5TCQ9 MAGI3_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 3 281 Guanylate kinase-like. apoptosis|interspecies interaction between organisms|intracellular signal transduction nucleus|tight junction ATP binding|guanylate kinase activity|protein binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 Lung SC(450;0.184) all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) AGCTCCATGGACTTTAGAAAT 0.408000 28 57 0 0 1 0 0 PCDHGA12 26025 broad.mit.edu 37 5 140885038 140885038 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:140885038G>A ENST00000252085.3 + 3 2704 c.2562G>A c.(2560-2562)gcG>gcA p.A854A PCDHGB4_ENST00000519479.1_Silent_p.A845A|PCDHGA7_ENST00000518325.1_Silent_p.A854A|PCDHGA11_ENST00000398587.2_Silent_p.A857A|PCDHGA5_ENST00000518069.1_Silent_p.A853A|PCDHGB6_ENST00000520790.1_Silent_p.A852A|PCDHGA10_ENST00000398610.2_Silent_p.A858A|PCDHGA1_ENST00000517417.1_Silent_p.A853A|PCDHGA8_ENST00000398604.2_Silent_p.A854A|PCDHGA11_ENST00000518882.1_Silent_p.A672A|PCDHGB7_ENST00000398594.2_Silent_p.A851A|PCDHGC5_ENST00000252087.1_Silent_p.A866A|PCDHGB3_ENST00000576222.1_Silent_p.A851A|PCDHGA2_ENST00000394576.2_Silent_p.A854A|PCDHGA9_ENST00000573521.1_Silent_p.A854A|PCDHGB1_ENST00000523390.1_Silent_p.A849A|PCDHGA4_ENST00000571252.1_Silent_p.A853A|PCDHGB2_ENST00000522605.1_Silent_p.A853A|PCDHGA3_ENST00000253812.6_Silent_p.A854A|PCDHGC4_ENST00000306593.1_Silent_p.A860A|PCDHGC3_ENST00000308177.3_Silent_p.A856A|PCDHGA6_ENST00000517434.1_Silent_p.A854A NM_003735.2|NM_032094.1 NP_003726.1|NP_115265.1 breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 58 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGATCTTGGCGTCCGCCAGTG 0.572000 38 152 0 0 1 0 0 OR4X1 390113 broad.mit.edu 37 11 48286262 48286262 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:48286262A>G ENST00000320048.1 + 1 850 c.850A>G c.(850-852)Att>Gtt p.I284V NM_001004726.1 NP_001004726.1 Q8NH49 OR4X1_HUMAN olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene) 284 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1) 28 AAACCCTGTGATTTACTCCTT 0.408000 25 64 0 0 1 0 0 SIX2 10736 broad.mit.edu 37 2 45235822 45235822 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:45235822T>C ENST00000303077.6 - 1 747 c.428A>G c.(427-429)tAc>tGc p.Y143C NM_016932.4 NP_058628.3 Q9NPC8 SIX2_HUMAN SIX homeobox 2 143 nucleus sequence-specific DNA binding transcription factor activity endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 22 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) GTTGTGCGCGTACCACTCGCG 0.657000 16 111 0 0 1 0 0 HOXC4 3221 broad.mit.edu 37 12 54448943 54448943 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:54448943C>T ENST00000430889.2 + 2 795 c.749C>T c.(748-750)gCc>gTc p.A250V HOXC4_ENST00000303406.4_Missense_Mutation_p.A250V NM_153633.2 NP_705897.1 P09017 HXC4_HUMAN homeobox C4 250 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 13 TCCCAGAGCGCCACGCCGCCG 0.647000 13 17 0 0 1 0 0 DYNC2H1 79659 broad.mit.edu 37 11 103060455 103060455 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:103060455T>C ENST00000375735.2 + 45 7491 c.7347T>C c.(7345-7347)gtT>gtC p.V2449V DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Silent_p.V2449V NM_001080463.1|NM_001377.2 NP_001073932.1|NP_001368.2 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 2449 AAA 3 (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) TGGAACCAGTTCTACATAAAA 0.318000 5 102 0 0 1 0 0 SGK223 157285 broad.mit.edu 37 8 8176218 8176218 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:8176218T>C ENST00000520004.1 - 6 3931 c.3667A>G c.(3667-3669)Acc>Gcc p.T1223A SGK223_ENST00000330777.4_Missense_Mutation_p.T1223A Q86YV5 SG223_HUMAN 1223 Protein kinase. ATP binding|non-membrane spanning protein tyrosine kinase activity AGGTTTGGGGTGCCGCCCGGC 0.657000 11 60 0 0 1 0 0 TLR4 7099 broad.mit.edu 37 9 120474737 120474737 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:120474737G>A ENST00000355622.6 + 3 432 c.331G>A c.(331-333)Gga>Aga p.G111R TLR4_ENST00000394487.4_Missense_Mutation_p.G71R|TLR4_ENST00000472304.1_3'UTR NM_138554.4|NM_138557.2 NP_612564.1|NP_612567.1 O00206 TLR4_HUMAN toll-like receptor 4 111 activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity p.G111*(1) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 103 AATATTGACAGGAAACCCCAT 0.428000 14 45 0 0 1 0 0 MAST2 23139 broad.mit.edu 37 1 46500250 46500250 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:46500250C>T ENST00000361297.2 + 29 4192 c.3909C>T c.(3907-3909)agC>agT p.S1303S MAST2_ENST00000372009.2_Intron|MAST2_ENST00000372008.1_Intron NM_015112.2 NP_055927.2 Q6P0Q8 MAST2_HUMAN microtubule associated serine/threonine kinase 2 1303 regulation of interleukin-12 biosynthetic process|spermatid differentiation cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity breast(1)|lung(3)|ovary(5)|stomach(2) 11 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184) CCAGCTCCAGCGTGCCCAGTT 0.597000 32 87 0 0 1 0 0 B4GALT5 9334 broad.mit.edu 37 20 48260136 48260136 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:48260136T>C ENST00000371711.4 - 4 603 c.416A>G c.(415-417)gAa>gGa p.E139G NM_004776.3 NP_004767.1 O43286 B4GT5_HUMAN UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5 139 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane galactosyltransferase activity|metal ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 20 BRCA - Breast invasive adenocarcinoma(9;2.51e-06) GGAGAAGAGTTCATGAATGTA 0.458000 25 90 0 0 1 0 0 ASAP1 50807 broad.mit.edu 37 8 131149240 131149240 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:131149240T>C ENST00000357668.1 - 13 1152 c.1125A>G c.(1123-1125)gtA>gtG p.V375V ASAP1_ENST00000518721.1_Silent_p.V375V Q9ULH1 ASAP1_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 375 PH. cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction cytoplasm|membrane ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 68 CATTAGGTTTTACTTGGCAGG 0.428000 36 166 0 0 1 0 0 DLL1 28514 broad.mit.edu 37 6 170597815 170597815 + Splice_Site SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:170597815A>G ENST00000366756.3 - 3 746 c.e3+1 NM_005618.3 NP_005609.3 O00548 DLL1_HUMAN delta-like 1 (Drosophila) cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion extracellular region|integral to plasma membrane calcium ion binding|Notch binding NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 33 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584) TTTTGTTTTTACCTGTTGCGA 0.498000 59 155 0 0 1 0 0 RNMTL1 55178 broad.mit.edu 37 17 695069 695069 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:695069T>C ENST00000304478.4 + 4 1129 c.1023T>C c.(1021-1023)agT>agC p.S341S NM_018146.2 NP_060616.1 Q9HC36 RMTL1_HUMAN RNA methyltransferase like 1 341 RNA processing protein binding|RNA binding|RNA methyltransferase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 10 UCEC - Uterine corpus endometrioid carcinoma (25;0.0219) AGGTTCAGAGTTACGACTCGG 0.562000 10 107 0 0 1 0 0 ABCA7 10347 broad.mit.edu 37 19 1045192 1045192 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:1045192C>T ENST00000263094.6 + 12 1638 c.1407C>T c.(1405-1407)gaC>gaT p.D469D ABCA7_ENST00000433129.1_Silent_p.D469D|ABCA7_ENST00000435683.2_Silent_p.D331D NM_019112.3 NP_061985.2 Q8IZY2 ABCA7_HUMAN ATP-binding cassette, sub-family A (ABC1), member 7 469 phagocytosis|transmembrane transport ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane ATP binding|ATPase activity|transporter activity NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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) TCCGCATGGACATTGACGTGG 0.652000 23 96 0 0 1 0 0 DSG1 1828 broad.mit.edu 37 18 28935292 28935292 + Missense_Mutation SNP G G A rs140838956 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr18:28935292G>A ENST00000257192.4 + 15 3345 c.3133G>A c.(3133-3135)Gtg>Atg p.V1045M DSG1_ENST00000462981.2_Missense_Mutation_p.V404M|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA NM_001942.2 NP_001933.2 Q02413 DSG1_HUMAN desmoglein 1 1045 calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 76 OV - Ovarian serous cystadenocarcinoma(10;0.00559) GTATAGTACCGTGCAATATAG 0.438000 14 36 0 0 1 0 0 SOX7 83595 broad.mit.edu 37 8 10583449 10583449 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:10583449T>C ENST00000304501.1 - 2 1044 c.966A>G c.(964-966)gaA>gaG p.E322E SOX7_ENST00000554914.1_Silent_p.E374E|SOX7_ENST00000553390.1_Silent_p.E374E NM_031439.2 NP_113627.1 Q9BT81 SOX7_HUMAN SRY (sex determining region Y)-box 7 322 Sox C-terminal. endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway cytoplasm|nucleus transcription regulatory region DNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 COAD - Colon adenocarcinoma(149;0.0732) CCCCCAGGAGTTCCACCTGGC 0.617000 17 60 0 0 1 0 0 PSMD1 5707 broad.mit.edu 37 2 231948419 231948419 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:231948419T>C ENST00000308696.6 + 14 1826 c.1664T>C c.(1663-1665)gTa>gCa p.V555A PSMD1_ENST00000409643.1_Missense_Mutation_p.V555A|PSMD1_ENST00000373635.4_Missense_Mutation_p.V555A NM_002807.3 NP_002798.2 Q99460 PSMD1_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 1 555 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction proteasome regulatory particle enzyme regulator activity|protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4) 31 Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168) Bortezomib(DB00188) ATAGCTTTAGTAATGTATGGG 0.453000 24 67 0 0 1 0 0 ELK3 2004 broad.mit.edu 37 12 96640943 96640943 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:96640943T>C ENST00000228741.3 + 3 759 c.433T>C c.(433-435)Tcc>Ccc p.S145P ELK3_ENST00000552142.1_Intron NM_005230.2 NP_005221.2 P41970 ELK3_HUMAN ELK3, ETS-domain protein (SRF accessory protein 2) 145 negative regulation of transcription, DNA-dependent|signal transduction mitochondrion protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2) 20 all_cancers(2;0.00173) CCTGTACTCGTCCTTCACCAT 0.627000 6 54 0 0 1 0 0 DACH1 1602 broad.mit.edu 37 13 72440247 72440247 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr13:72440247G>A ENST00000305425.4 - 1 1083 c.661C>T c.(661-663)Ctg>Ttg p.L221L DACH1_ENST00000354591.4_Silent_p.L221L|DACH1_ENST00000359684.2_Silent_p.L221L|DACH1_ENST00000313174.7_Silent_p.L221L NM_080759.4 NP_542937.2 Q9UI36 DACH1_HUMAN dachshund homolog 1 (Drosophila) 219 DACHbox-N.|Interaction with SIX6 and HDAC3 (By similarity). multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|nucleotide binding|protein binding NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198) GBM - Glioblastoma multiforme(99;0.00032) AAGTGCTTCAGGAACAGGTCG 0.577000 4 109 0 0 1 0 0 DECR2 26063 broad.mit.edu 37 16 460246 460246 + Missense_Mutation SNP C C T rs141151070 byFrequency TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:460246C>T ENST00000219481.5 + 5 479 c.341C>T c.(340-342)gCg>gTg p.A114V DECR2_ENST00000424398.2_Missense_Mutation_p.A102V|DECR2_ENST00000461947.1_3'UTR|DECR2_ENST00000397710.1_Silent_p.C176C NM_020664.3 NP_065715.1 Q9NUI1 DECR2_HUMAN 2,4-dienoyl CoA reductase 2, peroxisomal 114 peroxisome 2,4-dienoyl-CoA reductase (NADPH) activity|binding central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4) 9 Hepatocellular(16;0.00015) TCTGCAGGTGCGGCCGGGAAC 0.642000 6 21 0 0 1 0 0 EEF2 1938 broad.mit.edu 37 19 3980975 3980975 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:3980975A>G ENST00000309311.6 - 8 1102 c.1014T>C c.(1012-1014)gcT>gcC p.A338A NM_001961.3 NP_001952.1 P13639 EF2_HUMAN eukaryotic translation elongation factor 2 338 cytosol|ribonucleoprotein complex GTP binding|GTPase activity|protein binding|translation elongation factor activity endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18) GGCGCATCACAGCCTGCGGGG 0.647000 3 8 0 0 1 0 0 SOAT1 6646 broad.mit.edu 37 1 179271879 179271879 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:179271879T>C ENST00000367619.3 + 2 203 c.60T>C c.(58-60)ccT>ccC p.P20P SOAT1_ENST00000540564.1_5'UTR|SOAT1_ENST00000535686.1_Intron|SOAT1_ENST00000539888.1_Intron NM_003101.5 NP_003092.4 P35610 SOAT1_HUMAN sterol O-acyltransferase 1 20 cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly endoplasmic reticulum membrane|integral to membrane|microsome cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1) 20 Ezetimibe(DB00973)|Hesperetin(DB01094) GGGAAAATCCTGAGGAAGATG 0.398000 10 87 0 0 1 0 0 ADD1 118 broad.mit.edu 37 4 2906672 2906672 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:2906672T>C ENST00000355842.3 + 11 2206 c.1343T>C c.(1342-1344)cTg>cCg p.L448P ADD1_ENST00000503455.2_Missense_Mutation_p.L448P|ADD1_ENST00000513328.2_Missense_Mutation_p.L448P|ADD1_ENST00000398129.1_Missense_Mutation_p.L448P|ADD1_ENST00000446856.1_Missense_Mutation_p.L448P|ADD1_ENST00000264758.7_Missense_Mutation_p.L448P|ADD1_ENST00000398123.2_Missense_Mutation_p.L448P|ADD1_ENST00000398125.1_Missense_Mutation_p.L448P P35611 ADDA_HUMAN adducin 1 (alpha) 448 actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding cytosol|F-actin capping protein complex|nucleus|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2) 22 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) ACAAGATGGCTGAACTCTGGC 0.542000 19 62 0 0 1 0 0 ABCA9 10350 broad.mit.edu 37 17 66980290 66980290 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:66980290T>C ENST00000340001.4 - 35 4617 c.4406A>G c.(4405-4407)aAc>aGc p.N1469S ABCA9_ENST00000453985.2_Missense_Mutation_p.N1431S|ABCA9_ENST00000370732.2_3'UTR NM_080283.3 NP_525022.2 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A (ABC1), member 9 1469 ABC transporter 2. transport integral to membrane ATP binding|ATPase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 91 Breast(10;1.47e-12) CCTCTCCGTGTTTCTAAAGGT 0.512000 4 99 0 0 1 0 0 GUCA1B 2979 broad.mit.edu 37 6 42153509 42153509 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:42153509G>A ENST00000230361.3 - 3 479 c.384C>T c.(382-384)tgC>tgT p.C128C NM_002098.5 NP_002089.4 Q9UMX6 GUC1B_HUMAN guanylate cyclase activator 1B (retina) 128 body fluid secretion|cell-cell signaling|receptor guanylyl cyclase signaling pathway|visual perception plasma membrane calcium ion binding|calcium sensitive guanylate cyclase activator activity large_intestine(3)|lung(3)|skin(2) 8 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00154)|STAD - Stomach adenocarcinoma(11;0.00177) GCTCTCGCCGGCAGGCTTTCT 0.562000 15 49 0 0 1 0 0 ZNF292 23036 broad.mit.edu 37 6 87967022 87967022 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:87967022T>C ENST00000369577.3 + 8 3718 c.3675T>C c.(3673-3675)ggT>ggC p.G1225G ZNF292_ENST00000339907.4_Silent_p.G1220G NM_015021.1 NP_055836.1 O60281 ZN292_HUMAN zinc finger protein 292 1225 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 89 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) AACAAGGTGGTATGTTATGTT 0.378000 8 26 0 0 1 0 0 NCF1 653361 broad.mit.edu 37 7 74197366 74197366 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:74197366C>T ENST00000289473.4 + 6 606 c.536C>T c.(535-537)aCg>aTg p.T179M NCF1_ENST00000443956.3_3'UTR NM_000265.4 NP_000256.3 P14598 NCF1_HUMAN neutrophil cytosolic factor 1 179 SH3 1. cell communication|cellular defense response|innate immune response|protein targeting to membrane|respiratory burst|superoxide anion generation cytosol|NADPH oxidase complex|soluble fraction electron carrier activity|GTP binding|GTPase activity|phosphatidylinositol binding|SH3 domain binding|superoxide-generating NADPH oxidase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(3) 10 GCTCTGTCCACGGGGGACGTG 0.637000 19 40 0 0 1 0 0 ZNF638 27332 broad.mit.edu 37 2 71653961 71653961 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:71653961C>T ENST00000409544.1 + 24 5592 c.4962C>T c.(4960-4962)tgC>tgT p.C1654C ZNF638_ENST00000264447.4_Silent_p.C1654C|ZNF638_ENST00000355812.3_3'UTR|ZNF638_ENST00000409407.1_Silent_p.C594C NM_001252612.1 NP_001239541.1 Q14966 ZN638_HUMAN zinc finger protein 638 1654 RNA splicing cytoplasm|nuclear speck double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1) 63 AAGATGATTGCATTTCCCACA 0.348000 22 62 0 0 1 0 0 BCRP7 100133163 broad.mit.edu 37 22 18846122 18846122 + RNA SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr22:18846122G>A ENST00000412938.1 + 0 3480 ACGCACTGGCGCACGATGTAG 0.617000 5 58 0 0 1 0 0 SPATA16 83893 broad.mit.edu 37 3 172631485 172631485 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:172631485T>C ENST00000351008.3 - 10 1736 c.1553A>G c.(1552-1554)aAc>aGc p.N518S NM_031955.5 NP_114161.3 Q9BXB7 SPT16_HUMAN spermatogenesis associated 16 518 cell differentiation|multicellular organismal development|spermatogenesis Golgi apparatus binding breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 43 Ovarian(172;0.00319)|Breast(254;0.197) LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14) TTCATTATTGTTTCTTCTTCC 0.363000 3 31 0 0 1 0 0 SWI5 375757 broad.mit.edu 37 9 131038472 131038472 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:131038472C>T ENST00000320188.4 + 1 48 c.48C>T c.(46-48)tgC>tgT p.C16C NM_001040011.1 NP_001035100.1 Q1ZZU3 SWI5_HUMAN SWI5 recombination repair homolog (yeast) 16 double-strand break repair via homologous recombination Swi5-Sfr1 complex protein binding ACAAAAGCTGCGCACGCAACC 0.632000 33 98 0 0 1 0 0 HCAR2 338442 broad.mit.edu 37 12 123187372 123187372 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:123187372G>A ENST00000328880.5 - 1 518 c.459C>T c.(457-459)ggC>ggT p.G153G RP11-324E6.6_ENST00000543611.1_lincRNA|HCAR1_ENST00000356987.2_Intron NM_177551.3 NP_808219.1 Q8TDS4 HCAR2_HUMAN hydroxycarboxylic acid receptor 2 153 negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis integral to membrane|plasma membrane nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 15 Mepenzolate(DB04843)|Niacin(DB00627) CAATAGTGATGCCCCACAGAA 0.547000 5 147 0 0 1 0 0 SEPT12 124404 broad.mit.edu 37 16 4833691 4833691 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:4833691C>T ENST00000268231.8 - 6 852 c.589G>A c.(589-591)Gac>Aac p.D197N SEPT12_ENST00000396693.5_Missense_Mutation_p.D151N NM_144605.4 NP_653206.2 Q8IYM1 SEP12_HUMAN septin 12 197 cell cycle|cell division cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3) 23 GTCAGGCTGTCGGCCCTGGCA 0.687000 22 69 0 0 1 0 0 HPS1 3257 broad.mit.edu 37 10 100190934 100190934 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:100190934G>A ENST00000325103.6 - 7 855 c.622C>T c.(622-624)Cat>Tat p.H208Y HPS1_ENST00000361490.4_Missense_Mutation_p.H208Y|HPS1_ENST00000467246.1_5'UTR|HPS1_ENST00000338546.5_Missense_Mutation_p.H208Y NM_000195.3 NP_000186.2 Q92902 HPS1_HUMAN Hermansky-Pudlak syndrome 1 208 lysosome organization|response to stimulus|visual perception cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction protein dimerization activity breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 23 Colorectal(252;0.234) Epithelial(162;3.87e-12)|all cancers(201;5.63e-10) AGGAAGGCATGCAGGGCCTCC 0.622000 Hermansky-Pudlak syndrome 11 31 0 0 1 0 0 TMC3 342125 broad.mit.edu 37 15 81654580 81654580 + Missense_Mutation SNP C C G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:81654580C>G ENST00000558726.1 - 4 510 c.375G>C c.(373-375)atG>atC p.M125I TMC3_ENST00000359440.5_Missense_Mutation_p.M125I Q7Z5M5 TMC3_HUMAN transmembrane channel-like 3 125 integral to membrane autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 34 TCTTTATCCTCATTTCCCAGG 0.483000 3 18 0 0 1 0 0 KIAA1549L 25758 broad.mit.edu 37 11 33564173 33564173 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:33564173C>T ENST00000321505.4 + 1 353 c.173C>T c.(172-174)tCt>tTt p.S58F KIAA1549L_ENST00000265654.5_Missense_Mutation_p.S58F|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.S58F KIAA1549-like TCCCATCCGTCTCCCCCTCCC 0.562000 5 112 0 0 1 0 0 HLCS 3141 broad.mit.edu 37 21 38308878 38308878 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr21:38308878G>A ENST00000399120.1 - 5 2097 c.867C>T c.(865-867)tgC>tgT p.C289C HLCS_ENST00000336648.3_Silent_p.C289C NM_001242784.1 NP_001229713.1 P50747 BPL1_HUMAN holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase) 289 cell proliferation|histone biotinylation|response to biotin chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(46;0.0422) Biotin(DB00121) CCTGGTACCTGCAGCCACTGC 0.582000 43 99 0 0 1 0 0 CELSR2 1952 broad.mit.edu 37 1 109801625 109801625 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:109801625G>A ENST00000271332.3 + 2 3943 c.3882G>A c.(3880-3882)tcG>tcA p.S1294S NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 1294 EGF-like 2; calcium-binding. dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) TCTGCTACTCGCGGCCCTGTG 0.711000 9 25 0 0 1 0 0 CORIN 10699 broad.mit.edu 37 4 47765467 47765467 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:47765467A>G ENST00000273857.4 - 4 545 c.546T>C c.(544-546)agT>agC p.S182S CORIN_ENST00000504584.1_Silent_p.S182S|CORIN_ENST00000502252.1_Silent_p.S115S|CORIN_ENST00000508498.1_Silent_p.S43S|CORIN_ENST00000505909.1_Silent_p.S182S NM_006587.2 NP_006578.2 Q9Y5Q5 CORIN_HUMAN corin, serine peptidase 182 FZ 1. peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 79 GTTGATAGCAACTGAGGCGAT 0.473000 15 38 0 0 1 0 0 NEK10 152110 broad.mit.edu 37 3 27243970 27243970 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:27243970C>T ENST00000429845.2 - 25 2531 c.2169G>A c.(2167-2169)gcG>gcA p.A723A NEK10_ENST00000295720.6_Silent_p.A35A|NEK10_ENST00000383770.3_Silent_p.A35A|NEK10_ENST00000357467.2_Silent_p.A120A|NEK10_ENST00000383771.4_Silent_p.A35A Q6ZWH5 NEK10_HUMAN NIMA-related kinase 10 723 ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 GACTCAAAGTCGCCATCTGAT 0.488000 13 43 0 0 1 0 0 UBL4A 8266 broad.mit.edu 37 X 153713958 153713958 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chrX:153713958G>A ENST00000369660.4 - 4 479 c.394C>T c.(394-396)Ctg>Ttg p.L132L UBL4A_ENST00000369653.4_Silent_p.L132L|UBL4A_ENST00000477777.1_5'UTR NM_014235.3 NP_055050.1 P11441 UBL4A_HUMAN ubiquitin-like 4A 132 protein modification process|tail-anchored membrane protein insertion into ER membrane|transport BAT3 complex small conjugating protein ligase activity endometrium(5)|lung(1)|urinary_tract(1) 7 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) ATGTCGTCCAGCGTCAGGCGA 0.587000 61 43 0 0 1 0 0 KRT74 121391 broad.mit.edu 37 12 52966367 52966367 + Missense_Mutation SNP T T G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:52966367T>G ENST00000549343.1 - 2 594 c.556A>C c.(556-558)Aac>Cac p.N186H KRT74_ENST00000305620.2_Missense_Mutation_p.N186H Q7RTS7 K2C74_HUMAN keratin 74 186 Linker 1.|Rod. keratin filament structural molecule activity kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 BRCA - Breast invasive adenocarcinoma(357;0.191) GGCTCCAGGTTCTTCTTGCAG 0.557000 39 158 0 0 1 0 0 CABIN1 23523 broad.mit.edu 37 22 24515341 24515341 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr22:24515341C>T ENST00000398319.2 + 28 4693 c.4308C>T c.(4306-4308)aaC>aaT p.N1436N CABIN1_ENST00000263119.5_Silent_p.N1436N|CABIN1_ENST00000405822.2_Silent_p.N1357N NM_001199281.1 NP_001186210.1 Q9Y6J0 CABIN_HUMAN calcineurin binding protein 1 1436 cell surface receptor linked signaling pathway|chromatin modification nucleus protein phosphatase inhibitor activity breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 TAGGAAAAAACGAGGAGTCAT 0.547000 12 56 0 0 1 0 0 PRLHR 2834 broad.mit.edu 37 10 120354158 120354158 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:120354158T>C ENST00000239032.2 - 2 737 c.599A>G c.(598-600)cAc>cGc p.H200R PRLHR_ENST00000369169.1_Missense_Mutation_p.H200R NM_004248.2 NP_004239.1 P49683 PRLHR_HUMAN prolactin releasing hormone receptor 200 female pregnancy integral to plasma membrane neuropeptide Y receptor activity large_intestine(2)|lung(8)|ovary(1)|skin(1) 12 Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175) all cancers(201;0.0166) GAGCTCCACGTGATAGGTGTG 0.716000 3 23 0 0 1 0 0 NFKBIZ 64332 broad.mit.edu 37 3 101576014 101576014 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:101576014T>C ENST00000326172.5 + 10 2037 c.1922T>C c.(1921-1923)tTt>tCt p.F641S NFKBIZ_ENST00000394054.2_Missense_Mutation_p.F541S|NFKBIZ_ENST00000326151.5_Missense_Mutation_p.F519S NM_031419.3 NP_113607.1 Q9BYH8 IKBZ_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta 641 Interaction with NFKB1/p50 (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 24 TGCCTGTCTTTTGTGAATGCA 0.478000 15 74 0 0 1 0 0 DQX1 165545 broad.mit.edu 37 2 74750494 74750494 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:74750494G>A ENST00000404568.3 - 5 1206 c.987C>T c.(985-987)ttC>ttT p.F329F DQX1_ENST00000393951.2_Silent_p.F329F|DQX1_ENST00000495597.1_5'UTR NM_133637.2 NP_598376.2 Q8TE96 DQX1_HUMAN DEAQ box RNA-dependent ATPase 1 329 Helicase C-terminal. nucleus ATP binding|helicase activity|nucleic acid binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1) 18 GGGAGAAGGAGAAGTCAGCCA 0.547000 87 302 0 0 1 0 0 TRAPPC10 7109 broad.mit.edu 37 21 45457779 45457779 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr21:45457779T>C ENST00000291574.4 + 3 431 c.256T>C c.(256-258)Ttc>Ctc p.F86L TRAPPC10_ENST00000380221.3_Missense_Mutation_p.F86L NM_003274.4 NP_003265.3 P48553 TPC10_HUMAN trafficking protein particle complex 10 86 vesicle-mediated transport Golgi apparatus|integral to membrane binding|sodium ion transmembrane transporter activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4) 41 CACGTTTCCCTTCCTCCATAT 0.522000 44 114 0 0 1 0 0 TDRD10 126668 broad.mit.edu 37 1 154515221 154515221 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:154515221G>A ENST00000368482.4 + 8 1265 c.427G>A c.(427-429)Gct>Act p.A143T TDRD10_ENST00000479937.1_3'UTR|TDRD10_ENST00000368480.3_Missense_Mutation_p.A143T NM_001098475.1|NM_182499.3 NP_001091945.1|NP_872305.3 Q5VZ19 TDR10_HUMAN tudor domain containing 10 143 nucleotide binding|RNA binding p.A143T(1) breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) TATACAGCTCGCTCCTAAAGC 0.512000 7 70 0 0 1 0 0 FHOD1 29109 broad.mit.edu 37 16 67264368 67264368 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:67264368G>A ENST00000258201.4 - 19 3147 c.2900C>T c.(2899-2901)gCg>gTg p.A967V FHOD1_ENST00000567687.1_Missense_Mutation_p.A546V NM_013241.2 NP_037373.2 Q9Y613 FHOD1_HUMAN formin homology 2 domain containing 1 967 FH2. actin cytoskeleton organization cytoplasm|cytoskeleton|nucleus actin binding breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 34 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434) TTCACGGGCCGCCTGCGGGGT 0.592000 34 99 0 0 1 0 0 HIST1H1B 3009 broad.mit.edu 37 6 27834914 27834914 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:27834914T>C ENST00000331442.3 - 1 445 c.394A>G c.(394-396)Aag>Gag p.K132E NM_005322.2 NP_005313.1 P16401 H15_HUMAN histone cluster 1, H1b 132 nucleosome assembly nucleosome|nucleus DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2) 24 GCGGGCTTCTTAGCTTTAGCG 0.612000 68 202 0 0 1 0 0 PKD2L2 27039 broad.mit.edu 37 5 137241900 137241900 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:137241900T>C ENST00000508638.1 + 6 807 c.752T>C c.(751-753)gTg>gCg p.V251A PKD2L2_ENST00000502810.1_Missense_Mutation_p.V251A|PKD2L2_ENST00000508883.1_Missense_Mutation_p.V251A|PKD2L2_ENST00000350250.4_Missense_Mutation_p.V217A|PKD2L2_ENST00000290431.5_Missense_Mutation_p.V251A NM_001258449.1 NP_001245378.1 Q9NZM6 PK2L2_HUMAN polycystic kidney disease 2-like 2 251 integral to membrane calcium ion binding|ion channel activity breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2) 28 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) TACAGATTGGTGGCAGAATTC 0.343000 27 60 0 0 1 0 0 GPATCH8 23131 broad.mit.edu 37 17 42477017 42477017 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:42477017G>A ENST00000434000.1 - 9 2476 c.2194C>T c.(2194-2196)Cgg>Tgg p.R732W GPATCH8_ENST00000591680.1_Missense_Mutation_p.R810W Q9UKJ3 GPTC8_HUMAN G patch domain containing 8 810 intracellular nucleic acid binding|zinc ion binding breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 50 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.206) GGTTGGCTCCGATGGCTAGAC 0.552000 31 87 0 0 1 0 0 RUSC2 9853 broad.mit.edu 37 9 35555441 35555441 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:35555441C>T ENST00000455600.1 + 3 2968 c.2399C>T c.(2398-2400)tCg>tTg p.S800L NM_001135999.1 NP_001129471.1 Q8N2Y8 RUSC2_HUMAN RUN and SH3 domain containing 2 800 cytosol NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194) GCCTCCACTTCGTGCTCCCCT 0.667000 86 199 0 0 1 0 0 FASTKD3 79072 broad.mit.edu 37 5 7863000 7863000 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:7863000A>G ENST00000264669.5 - 4 1771 c.1635T>C c.(1633-1635)acT>acC p.T545T FASTKD3_ENST00000513658.1_5'UTR|MTRR_ENST00000502509.1_Intron NM_024091.3 NP_076996.2 Q14CZ7 FAKD3_HUMAN FAST kinase domains 3 545 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 CTAAAAGGTTAGTCAGCCCAA 0.373000 8 253 0 0 1 0 0 LRRC37A3 374819 broad.mit.edu 37 17 62865264 62865264 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:62865264A>G ENST00000584306.1 - 8 3457 c.2927T>C c.(2926-2928)cTg>cCg p.L976P LRRC37A3_ENST00000339474.5_Missense_Mutation_p.L94P|LRRC37A3_ENST00000400877.3_Missense_Mutation_p.L14P|LRRC37A3_ENST00000319651.5_Missense_Mutation_p.L976P NM_199340.2 NP_955372.2 O60309 L37A3_HUMAN leucine rich repeat containing 37, member A3 976 integral to membrane NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 AACAGTTGTCAGAGGATTGTG 0.299000 32 131 0 0 1 0 0 SLIT3 6586 broad.mit.edu 37 5 168180952 168180952 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:168180952G>A ENST00000519560.1 - 17 2165 c.1746C>T c.(1744-1746)agC>agT p.S582S SLIT3_ENST00000404867.3_Silent_p.S582S|SLIT3_ENST00000332966.8_Silent_p.S582S NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 582 apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GCTCCTGCACGCTGGCTGCTC 0.552000 10 31 0 0 1 0 0 SKAP2 8935 broad.mit.edu 37 7 26778441 26778441 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:26778441C>T ENST00000345317.2 - 6 755 c.442G>A c.(442-444)Gta>Ata p.V148I SKAP2_ENST00000489977.1_5'UTR|SKAP2_ENST00000539623.1_5'UTR NM_003930.3 NP_003921.2 O75563 SKAP2_HUMAN src kinase associated phosphoprotein 2 148 PH. B cell activation|cell junction assembly|protein complex assembly|signal transduction cytosol|plasma membrane SH3/SH2 adaptor activity haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3) 17 TAATAGAATACCGTTTTACTG 0.383000 15 79 0 0 1 0 0 TRMU 55687 broad.mit.edu 37 22 46752902 46752902 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr22:46752902G>A ENST00000290846.4 + 11 1605 c.1265G>A c.(1264-1266)tGa>tAa p.*422* TRMU_ENST00000381019.3_3'UTR NM_018006.4 NP_060476.2 O75648 MTU1_HUMAN tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase 0 mitochondrion ATP binding|sulfurtransferase activity|tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase activity|tRNA binding NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1) 10 Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248) CCCTTGCTCTGACAGAGATGG 0.627000 17 49 0 0 1 0 0 TGS1 96764 broad.mit.edu 37 8 56698986 56698986 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:56698986A>G ENST00000260129.5 + 4 1006 c.529A>G c.(529-531)Act>Gct p.T177A NM_024831.6 NP_079107.6 Q96RS0 TGS1_HUMAN trimethylguanosine synthase 1 177 cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent Cajal body|cytosol RNA trimethylguanosine synthase activity breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147) Epithelial(17;0.00027)|all cancers(17;0.00251) CAAAAAAGATACTGAGACAGA 0.343000 21 88 0 0 1 0 0 FRAS1 80144 broad.mit.edu 37 4 79360054 79360054 + Splice_Site SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:79360054A>G ENST00000264895.6 + 40 5806 c.e40-1 FRAS1_ENST00000325942.6_Splice_Site NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 GTTTTTTTATAGATACTCAGC 0.363000 17 84 0 0 1 0 0 NDUFA3 4696 broad.mit.edu 37 19 54611747 54611747 + Splice_Site SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:54611747C>T ENST00000391764.3 + 4 174 c.163_splice c.e4-1 p.A55_splice TFPT_ENST00000391758.1_Intron|TFPT_ENST00000391757.1_Intron|TFPT_ENST00000391759.1_Intron O95167 NDUA3_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 3, 9kDa 55 mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity breast(1)|endometrium(1) 2 all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19) NADH(DB00157) TATCTCCTAGCGGCTGGGGAA 0.597000 13 42 0 0 1 0 0 CACNA1B 774 broad.mit.edu 37 9 140911612 140911612 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:140911612T>C ENST00000277550.3 + 3 162 c.162T>C c.(160-162)ggT>ggC p.G54G CACNA1B_ENST00000371357.1_Intron|CACNA1B_ENST00000277551.2_Intron|CACNA1B_ENST00000277549.5_Intron|CACNA1B_ENST00000371363.1_Intron|CACNA1B_ENST00000371372.1_Intron|CACNA1B_ENST00000371355.4_Intron Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 761 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) AAGCTCGAGGTACTGTATCTC 0.473000 4 37 0 0 1 0 0 ING1 3621 broad.mit.edu 37 13 111371616 111371616 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr13:111371616T>C ENST00000375774.3 + 2 1068 c.606T>C c.(604-606)agT>agC p.S202S ING1_ENST00000464141.1_3'UTR|ING1_ENST00000338450.7_Silent_p.S15S|ING1_ENST00000333219.7_Silent_p.S59S|ING1_ENST00000375775.3_5'UTR NM_005537.4 NP_005528.3 Q9UK53 ING1_HUMAN inhibitor of growth family, member 1 202 cell cycle|negative regulation of cell growth|negative regulation of cell proliferation nucleus zinc ion binding endometrium(4)|large_intestine(6)|lung(1)|ovary(1) 12 all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148) BRCA - Breast invasive adenocarcinoma(86;0.188) AGCGCTTCAGTCGCGAGACAG 0.647000 35 89 0 0 1 0 0 NPAT 4863 broad.mit.edu 37 11 108032395 108032395 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:108032395T>C ENST00000278612.8 - 17 3523 c.3418A>G c.(3418-3420)Acc>Gcc p.T1140A NM_002519.2 NP_002510.2 Q14207 NPAT_HUMAN nuclear protein, ataxia-telangiectasia locus 1140 positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle Cajal body protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5) 46 all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116) TCTCTTATGGTGGTATGCCGG 0.373000 8 95 0 0 1 0 0 C8orf31 286122 broad.mit.edu 37 8 144124506 144124506 + Splice_Site SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:144124506T>C ENST00000395172.1 + 2 438 c.e2+2 C8orf31_ENST00000517653.1_Intron NM_173687.2 NP_775958.1 Q8N9H6 CH031_HUMAN chromosome 8 open reading frame 31 breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1) 10 all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) GGACAGAGGGTAGGCCTGCGG 0.612000 23 108 0 0 1 0 0 HSPBAP1 79663 broad.mit.edu 37 3 122487712 122487712 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:122487712T>C ENST00000383659.1 - 3 390 c.268A>G c.(268-270)Aca>Gca p.T90A HSPBAP1_ENST00000306103.2_Missense_Mutation_p.T90A|HSPBAP1_ENST00000465044.1_5'UTR Q96EW2 HBAP1_HUMAN HSPB (heat shock 27kDa) associated protein 1 90 Interaction with HSPB1 (By similarity). cytoplasm breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1) 16 GBM - Glioblastoma multiforme(114;0.0531) TAATTACATGTAGTTTCAAAC 0.318000 9 32 0 0 1 0 0 LOXL2 4017 broad.mit.edu 37 8 23225645 23225645 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:23225645C>T ENST00000389131.3 - 2 589 c.220G>A c.(220-222)Gtg>Atg p.V74M NM_002318.2 NP_002309.1 Q9Y4K0 LOXL2_HUMAN lysyl oxidase-like 2 74 SRCR 1. aging|cell adhesion|protein modification process extracellular space|membrane copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(55;0.0453)|Breast(100;0.143) Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096) TCATAGTACACCTCCACCCGG 0.657000 33 113 0 0 1 0 0 WNT9B 7484 broad.mit.edu 37 17 44954067 44954067 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:44954067T>C ENST00000290015.2 + 4 1110 c.1057T>C c.(1057-1059)Tac>Cac p.Y353H WNT9B_ENST00000393461.2_Intron NM_003396.1 NP_003387.1 O14905 WNT9B_HUMAN wingless-type MMTV integration site family, member 9B 353 anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|G-protein-coupled receptor binding large_intestine(2)|lung(8) 10 BRCA - Breast invasive adenocarcinoma(9;0.0257) GGAGCTTGTGTACACCTGCAA 0.632000 6 33 0 0 1 0 0 BRD8 10902 broad.mit.edu 37 5 137501707 137501707 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:137501707A>G ENST00000254900.5 - 11 1459 c.1088T>C c.(1087-1089)aTc>aCc p.I363T BRD8_ENST00000230901.5_Missense_Mutation_p.I436T|BRD8_ENST00000455658.2_Missense_Mutation_p.I322T|BRD8_ENST00000411594.2_Missense_Mutation_p.I366T|BRD8_ENST00000402931.1_Missense_Mutation_p.I363T NM_139199.1 NP_631938.1 Q9H0E9 BRD8_HUMAN bromodomain containing 8 363 cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter mitochondrion|NuA4 histone acetyltransferase complex sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1) 35 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) AGAATTGATGATCATGGATAT 0.468000 6 157 0 0 1 0 0 SLC43A1 8501 broad.mit.edu 37 11 57256751 57256751 + Silent SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:57256751G>T ENST00000278426.3 - 12 1663 c.1308C>A c.(1306-1308)acC>acA p.T436T SLC43A1_ENST00000528450.1_Silent_p.T436T NM_003627.5 NP_003618.1 O75387 LAT3_HUMAN solute carrier family 43 (amino acid system L transporter), member 1 436 cellular nitrogen compound metabolic process|ion transport integral to plasma membrane neutral amino acid transmembrane transporter activity breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 19 TGATGAGACAGGTGATGCCAA 0.552000 36 84 4.62619e-21 4.88158e-21 1 1 0 TAF9 6880 broad.mit.edu 37 5 68660866 68660866 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:68660866T>C ENST00000328663.4 - 3 1165 c.699A>G c.(697-699)tcA>tcG p.S233S TAF9_ENST00000380818.3_Intron|TAF9_ENST00000506736.1_Silent_p.S233S|TAF9_ENST00000502819.1_Intron|TAF9_ENST00000380822.4_Intron|TAF9_ENST00000217893.5_Silent_p.S233S|TAF9_ENST00000512561.1_Intron NM_001015892.1 NP_001015892.1 Q9Y3D8 KAD6_HUMAN TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa 0 Cajal body adenylate kinase activity|ATP binding|protein binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1) 8 Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176) CAGTATTTTGTGATGACATCA 0.338000 16 56 0 0 1 0 0 HGS 9146 broad.mit.edu 37 17 79661856 79661856 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:79661856G>A ENST00000329138.4 + 12 1083 c.948G>A c.(946-948)gcG>gcA p.A316A NM_004712.4 NP_004703.1 O14964 HGS_HUMAN hepatocyte growth factor-regulated tyrosine kinase substrate 316 Interaction with SNX1 (By similarity). cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process cytosol|early endosome membrane|multivesicular body membrane metal ion binding|protein domain specific binding endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 12 all_neural(118;0.0878)|all_lung(278;0.23) BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955) ACTCGTCGGCGCCTCTGGCTG 0.612000 4 117 0 0 1 0 0 ERAP1 51752 broad.mit.edu 37 5 96112181 96112181 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:96112181A>G ENST00000296754.3 - 19 3002 c.2745T>C c.(2743-2745)atT>atC p.I915I ERAP1_ENST00000443439.2_Silent_p.I915I NM_016442.3 NP_057526.3 Q9NZ08 ERAP1_HUMAN endoplasmic reticulum aminopeptidase 1 915 angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2) 19 all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244) all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071) TGTTTTCTTCAATGGTTTCAA 0.383000 13 95 0 0 1 0 0 SLC44A1 23446 broad.mit.edu 37 9 108123609 108123609 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:108123609A>G ENST00000374720.3 + 8 1145 c.898A>G c.(898-900)Aca>Gca p.T300A SLC44A1_ENST00000374723.1_Missense_Mutation_p.T300A|SLC44A1_ENST00000343170.7_Missense_Mutation_p.T92A|SLC44A1_ENST00000374724.1_Missense_Mutation_p.T300A NM_080546.3 NP_536856.2 Q8WWI5 CTL1_HUMAN solute carrier family 44 (choline transporter), member 1 300 integral to membrane|mitochondrial outer membrane|plasma membrane choline transmembrane transporter activity breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 38 Choline(DB00122) TACAGTGTTCACAGTGAGTTT 0.428000 30 101 0 0 1 0 0 ACTL8 81569 broad.mit.edu 37 1 18149520 18149520 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:18149520T>C ENST00000375406.1 + 2 233 c.17T>C c.(16-18)gTt>gCt p.V6A NM_030812.2 NP_110439.2 Q9H568 ACTL8_HUMAN actin-like 8 6 cytoplasm|cytoskeleton NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 28 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201) GCAAGAACCGTTATCATTGAC 0.577000 8 32 0 0 1 0 0 GABRE 2564 broad.mit.edu 37 X 151128335 151128335 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chrX:151128335T>C ENST00000370325.1 - 6 813 c.760A>G c.(760-762)Act>Gct p.T254A GABRE_ENST00000393914.3_Missense_Mutation_p.T61A|GABRE_ENST00000370328.3_Missense_Mutation_p.T254A P78334 GBRE_HUMAN gamma-aminobutyric acid (GABA) A receptor, epsilon 254 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) ATTATTTCAGTTTTGTTGCTC 0.443000 44 44 0 0 1 0 0 PCDHGB3 56102 broad.mit.edu 37 5 140752069 140752069 + Missense_Mutation SNP T T A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:140752069T>A ENST00000576222.1 + 1 2239 c.2108T>A c.(2107-2109)tTc>tAc p.F703Y PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron NM_018924.2|NM_032097.1 NP_061747.1|NP_115268.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCAGTGCTCTTCCTCCTCGCG 0.582000 6 165 0 0 1 0 0 AGXT 189 broad.mit.edu 37 2 241808594 241808594 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:241808594A>G ENST00000307503.3 + 2 560 c.173A>G c.(172-174)gAc>gGc p.D58G NM_000030.2 NP_000021.1 P21549 SPYA_HUMAN alanine-glyoxylate aminotransferase 58 glyoxylate metabolic process|protein targeting to peroxisome mitochondrial matrix|peroxisomal matrix alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1) 18 all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15) Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) CAGATCATGGACGAGATCAAG 0.622000 5 119 0 0 1 0 0 INO80 54617 broad.mit.edu 37 15 41364187 41364187 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:41364187T>C ENST00000361937.3 - 12 1889 c.1465A>G c.(1465-1467)Act>Gct p.T489A INO80_ENST00000401393.3_Missense_Mutation_p.T489A Q9ULG1 INO80_HUMAN INO80 complex subunit 489 Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1. cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair Ino80 complex|microtubule actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 CCAAACCCAGTGCCAGACTTG 0.423000 11 128 0 0 1 0 0 ATP1A2 477 broad.mit.edu 37 1 160098602 160098602 + Missense_Mutation SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:160098602A>T ENST00000361216.3 + 9 1267 c.1178A>T c.(1177-1179)aAc>aTc p.N393I ATP1A2_ENST00000392233.3_Missense_Mutation_p.N393I|ATP1A2_ENST00000472488.1_3'UTR NM_000702.3 NP_000693.1 P50993 AT1A2_HUMAN ATPase, Na+/K+ transporting, alpha 2 polypeptide 393 ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 69 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) TGGTTCGACAACCAAATCCAT 0.612000 27 67 0 0 1 0 0 DAPK1 1612 broad.mit.edu 37 9 90322130 90322130 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:90322130G>A ENST00000469640.2 + 27 4594 c.4219G>A c.(4219-4221)Gag>Aag p.E1407K DAPK1_ENST00000472284.1_Missense_Mutation_p.E1382K|DAPK1_ENST00000408954.3_Missense_Mutation_p.E1382K|DAPK1_ENST00000358077.5_Missense_Mutation_p.E1382K|DAPK1_ENST00000491893.1_Missense_Mutation_p.E1316K P53355 DAPK1_HUMAN death-associated protein kinase 1 1382 apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade actin cytoskeleton|cytoplasm ATP binding|calmodulin binding|protein serine/threonine kinase activity breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1) 72 CAAACTGAGGGAGCTGGGTCG 0.607000 Chronic Lymphocytic Leukemia, Familial Clustering of 9 35 0 0 1 0 0 DCAF16 54876 broad.mit.edu 37 4 17805713 17805713 + Nonsense_Mutation SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:17805713C>A ENST00000382247.1 - 3 1112 c.52G>T c.(52-54)Gaa>Taa p.E18* DCAF16_ENST00000536863.1_Nonsense_Mutation_p.E18* NM_017741.3 NP_060211.3 Q9NXF7 DCA16_HUMAN DDB1 and CUL4 associated factor 16 18 Poly-Glu. CUL4 RING ubiquitin ligase complex cervix(1)|endometrium(1)|lung(2)|ovary(1) 5 TTTTCTTCTTCCTCACTTTCT 0.423000 7 38 0.00307968 0.00310584 1 1 0 CMYA5 202333 broad.mit.edu 37 5 79033127 79033127 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:79033127A>G ENST00000446378.2 + 2 8570 c.8539A>G c.(8539-8541)Aca>Gca p.T2847A NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 2847 perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) AGAAAGGCATACAGTTCATAC 0.423000 34 78 0 0 1 0 0 CHRNG 1146 broad.mit.edu 37 2 233408002 233408002 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:233408002A>G ENST00000389494.3 + 8 844 c.823A>G c.(823-825)Acc>Gcc p.T275A CHRNG_ENST00000389492.3_Missense_Mutation_p.T223A NM_005199.4 NP_005190.4 P07510 ACHG_HUMAN cholinergic receptor, nicotinic, gamma (muscle) 275 muscle contraction cell junction|postsynaptic membrane acetylcholine receptor activity breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1) 22 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086) CCAGAAGTGTACCGTCGCCAT 0.597000 14 50 0 0 1 0 0 SLC9A9 285195 broad.mit.edu 37 3 143185960 143185960 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:143185960G>A ENST00000316549.6 - 12 1596 c.1388C>T c.(1387-1389)aCc>aTc p.T463I NM_173653.3 NP_775924.1 Q8IVB4 SL9A9_HUMAN solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9 463 regulation of pH integral to membrane|late endosome membrane|recycling endosome sodium:hydrogen antiporter activity breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1) 57 CAGCGTAGTGGTAAACATCAT 0.478000 18 39 0 0 1 0 0 ABCA13 154664 broad.mit.edu 37 7 48318466 48318466 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:48318466T>C ENST00000435803.1 + 18 7699 c.7675T>C c.(7675-7677)Tat>Cat p.Y2559H NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 2559 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 TGACACTCTGTATTCCATCAT 0.318000 41 115 0 0 1 0 0 SDPR 8436 broad.mit.edu 37 2 192711277 192711277 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:192711277C>T ENST00000304141.4 - 1 704 c.375G>A c.(373-375)acG>acA p.T125T AC098617.1_ENST00000424116.2_RNA NM_004657.5 NP_004648.1 O95810 SDPR_HUMAN serum deprivation response 125 caveola|cytosol phosphatidylserine binding|protein binding NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3) 23 OV - Ovarian serous cystadenocarcinoma(117;0.0647) Phosphatidylserine(DB00144) TGACCGCGCGCGTGTGGGCGC 0.602000 27 50 0 0 1 0 0 RBM38 55544 broad.mit.edu 37 20 55982757 55982757 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:55982757A>G ENST00000356208.5 + 4 750 c.575A>G c.(574-576)tAc>tGc p.Y192C RBM38_ENST00000371219.2_Missense_Mutation_p.Y111C|RBM38_ENST00000440234.2_3'UTR NM_017495.5 NP_059965.2 Q9H0Z9 RBM38_HUMAN RNA binding motif protein 38 192 3'-UTR-mediated mRNA stabilization|cell cycle|cell cycle arrest|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mRNA processing|negative regulation of cell proliferation|regulation of RNA splicing|RNA splicing cytosol|nucleus mRNA 3'-UTR binding|mRNA binding|nucleotide binding|RNA binding large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 9 Lung NSC(12;0.00242)|all_lung(29;0.00767)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(4;1.55e-12)|Epithelial(14;9.49e-09)|all cancers(14;5.01e-08) CAGTACCCATACGCCGCCTCG 0.706000 14 47 0 0 1 0 0 CMIP 80790 broad.mit.edu 37 16 81730216 81730216 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:81730216C>T ENST00000537098.3 + 14 1654 c.1582C>T c.(1582-1584)Ctc>Ttc p.L528F CMIP_ENST00000539778.2_Missense_Mutation_p.L434F|CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000398040.4_Missense_Mutation_p.L375F NM_198390.2 NP_938204.2 Q8IY22 CMIP_HUMAN c-Maf inducing protein 494 cytoplasm|nucleus endometrium(5)|kidney(1)|lung(7) 13 CTGGTTCCAGCTCTACAGCCC 0.652000 4 52 0 0 1 0 0 OPCML 4978 broad.mit.edu 37 11 132527055 132527055 + Silent SNP G G A rs144949245 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:132527055G>A ENST00000331898.7 - 2 905 c.327C>T c.(325-327)gaC>gaT p.D109D OPCML_ENST00000524381.1_Silent_p.D102D|OPCML_ENST00000374778.4_Silent_p.D68D|OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000541867.1_Silent_p.D109D NM_002545.3 NP_002536.1 Q14982 OPCM_HUMAN opioid binding protein/cell adhesion molecule-like 109 Ig-like C2-type 1. cell adhesion|neuron recognition anchored to membrane|integral to plasma membrane opioid receptor activity endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8) 47 all_hematologic(175;0.019) all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129) all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012) ACGGACCTTCGTCATACACAT 0.507000 25 64 0 0 1 0 0 PRSS16 10279 broad.mit.edu 37 6 27216987 27216987 + Missense_Mutation SNP G G A rs145240806 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:27216987G>A ENST00000230582.3 + 4 461 c.446G>A c.(445-447)cGc>cAc p.R149H PRSS16_ENST00000421826.2_Intron NM_005865.3 NP_005856.1 Q9NQE7 TSSP_HUMAN protease, serine, 16 (thymus) 149 protein catabolic process|proteolysis cytoplasmic membrane-bounded vesicle serine-type peptidase activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 26 GCCCAGCTCCGCTTCTTGTCC 0.562000 30 117 0 0 1 0 0 ARID4B 51742 broad.mit.edu 37 1 235403679 235403679 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:235403679A>G ENST00000264183.3 - 8 1031 c.534T>C c.(532-534)tgT>tgC p.C178C ARID4B_ENST00000349213.3_Silent_p.C178C|ARID4B_ENST00000366603.2_Silent_p.C178C NM_016374.5 NP_057458.4 Q4LE39 ARI4B_HUMAN AT rich interactive domain 4B (RBP1-like) 178 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2) 8 Ovarian(103;0.0473)|Breast(184;0.23) all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24) OV - Ovarian serous cystadenocarcinoma(106;2.86e-05) TGTAATCTACACATACAACTT 0.368000 12 23 0 0 1 0 0 RSBN1L 222194 broad.mit.edu 37 7 77379267 77379267 + Nonsense_Mutation SNP T T A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:77379267T>A ENST00000334955.7 + 3 1257 c.1230T>A c.(1228-1230)taT>taA p.Y410* RSBN1L_ENST00000445288.1_Nonsense_Mutation_p.Y140* NM_198467.2 NP_940869.2 Q6PCB5 RSBNL_HUMAN round spermatid basic protein 1-like 410 nucleus central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 CAGCTACTTATTTACCTGACT 0.378000 40 146 0 0 1 0 0 KIAA1549 57670 broad.mit.edu 37 7 138603663 138603663 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:138603663G>A ENST00000440172.1 - 2 757 c.709C>T c.(709-711)Cgc>Tgc p.R237C KIAA1549_ENST00000242365.4_Missense_Mutation_p.R187C|KIAA1549_ENST00000422774.1_Missense_Mutation_p.R237C NM_001164665.1|NM_020910.2 NP_001158137.1|NP_065961.2 Q9HCM3 K1549_HUMAN KIAA1549 237 integral to membrane KIAA1549/BRAF(703) large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2) 7 TCAGAGGTGCGAAAAGCTGAC 0.502000 O BRAF pilocytic astrocytoma 36 118 0 0 1 0 0 MTMR10 54893 broad.mit.edu 37 15 31253111 31253111 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:31253111A>G ENST00000435680.1 - 7 828 c.731T>C c.(730-732)aTt>aCt p.I244T MTMR10_ENST00000314404.8_5'UTR|MTMR10_ENST00000563714.1_Missense_Mutation_p.I162T|MTMR10_ENST00000425768.1_Silent_p.L214L NM_017762.2 NP_060232.2 Q9NXD2 MTMRA_HUMAN myotubularin related protein 10 244 Myotubularin phosphatase. phosphatase activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1) 9 all_lung(180;2.81e-11) all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174) ACCCTCGTTAATAGAACAAAC 0.423000 5 22 0 0 1 0 0 ZNF285 26974 broad.mit.edu 37 19 44891802 44891802 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:44891802T>C ENST00000330997.4 - 4 669 c.605A>G c.(604-606)gAc>gGc p.D202G ZNF285_ENST00000591679.1_Missense_Mutation_p.D209G|ZNF285_ENST00000544719.2_Missense_Mutation_p.D202G|CTC-512J12.6_ENST00000588212.1_Intron NM_152354.3 NP_689567.3 zinc finger protein 285 breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 TCTACCAGGGTCCTCTCCTTT 0.443000 27 95 0 0 1 0 0 MAG 4099 broad.mit.edu 37 19 35786521 35786521 + Nonsense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:35786521C>T ENST00000361922.4 + 4 202 c.52C>T c.(52-54)Cga>Tga p.R18* MAG_ENST00000537831.2_5'UTR|MAG_ENST00000597035.1_Nonsense_Mutation_p.R18*|MAG_ENST00000392213.3_Nonsense_Mutation_p.R18* NM_080600.2 NP_542167.1 P20916 MAG_HUMAN myelin associated glycoprotein 18 blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway integral to membrane|plasma membrane sugar binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2) 34 all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162) Renal(1328;0.242) Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) CGCAGCCTCCCGAGGGGGTCA 0.687000 37 75 0 0 1 0 0 CTNNA1 1495 broad.mit.edu 37 5 138260997 138260997 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:138260997G>A ENST00000302763.7 + 13 1890 c.1800G>A c.(1798-1800)tcG>tcA p.S600S CTNNA1_ENST00000355078.5_Silent_p.S497S|CTNNA1_ENST00000540387.1_Silent_p.S230S|CTNNA1_ENST00000518825.1_Silent_p.S600S NM_001903.2 NP_001894.2 P35221 CTNA1_HUMAN catenin (cadherin-associated protein), alpha 1, 102kDa 600 adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation actin cytoskeleton|catenin complex|cytosol beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding p.S600S(1) NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 52 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) CCCTCAGCTCGGACCCTGCCC 0.537000 31 54 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145304609 145304609 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:145304609A>G ENST00000342960.5 + 10 1577 c.1542A>G c.(1540-1542)tcA>tcG p.S514S NBPF10_ENST00000369339.2_Silent_p.S243S|NBPF10_ENST00000369338.1_Silent_p.S243S|RP11-458D21.5_ENST00000468030.1_3'UTR NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 514 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) TCATTGGCTCATCCTCTCATG 0.428000 7 485 0 0 1 0 0 GRIN2C 2905 broad.mit.edu 37 17 72840621 72840621 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:72840621A>G ENST00000293190.5 - 12 2523 c.2377T>C c.(2377-2379)Tgg>Cgg p.W793R GRIN2C_ENST00000347612.4_Missense_Mutation_p.W793R NM_000835.3 NP_000826.2 Q14957 NMDE3_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2C 793 glutamate signaling pathway cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1) 33 all_lung(278;0.172)|Lung NSC(278;0.207) Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836) CCTGAGAGCCACACTGTCTCC 0.542000 34 76 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56362809 56362809 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:56362809C>T ENST00000370754.5 - 81 19845 c.19846G>A c.(19846-19848)Gcc>Acc p.A6616T DST_ENST00000370769.4_Missense_Mutation_p.A6438T|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Missense_Mutation_p.A4350T|DST_ENST00000370788.2_Missense_Mutation_p.A4241T|DST_ENST00000446842.2_Missense_Mutation_p.A6112T|DST_ENST00000361203.3_Missense_Mutation_p.A6327T|DST_ENST00000244364.6_Missense_Mutation_p.A4024T|DST_ENST00000340834.4_5'UTR Q03001 DYST_HUMAN dystonin 6436 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TTATTAACGGCTTCCACTGTG 0.368000 35 142 0 0 1 0 0 MYH1 4619 broad.mit.edu 37 17 10415172 10415172 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:10415172C>T ENST00000226207.5 - 14 1494 c.1400G>A c.(1399-1401)gGc>gAc p.G467D CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 467 Myosin head-like. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 GATCTCAAAGCCAGCAATGTC 0.458000 53 167 0 0 1 0 0 PIGK 10026 broad.mit.edu 37 1 77685039 77685039 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:77685039C>T ENST00000370812.3 - 1 72 c.49G>A c.(49-51)Gtg>Atg p.V17M PIGK_ENST00000445065.1_Missense_Mutation_p.V17M|PIGK_ENST00000478391.1_5'UTR|PIGK_ENST00000370813.5_Missense_Mutation_p.V17M|PIGK_ENST00000359130.1_Missense_Mutation_p.V17M NM_005482.2 NP_005473.1 Q92643 GPI8_HUMAN phosphatidylinositol glycan anchor biosynthesis, class K 17 attachment of GPI anchor to protein|C-terminal protein lipidation|protein thiol-disulfide exchange|proteolysis GPI-anchor transamidase complex cysteine-type endopeptidase activity|GPI-anchor transamidase activity|protein binding endometrium(5)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 19 AAGAGCAACACAGTTGCCAAG 0.622000 11 46 0 0 1 0 0 ACACA 31 broad.mit.edu 37 17 35582000 35582000 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:35582000T>C ENST00000353139.5 - 27 3868 c.3387A>G c.(3385-3387)tcA>tcG p.S1129S ACACA_ENST00000394406.2_Silent_p.S1092S|ACACA_ENST00000360679.3_Silent_p.S1034S|ACACA_ENST00000335166.5_Silent_p.S1014S NM_198834.1|NM_198839.1 NP_942131.1|NP_942136.1 Q13085 ACACA_HUMAN acetyl-CoA carboxylase alpha 1092 acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 83 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) GAAGCTCATATGATGGCAAAT 0.398000 6 71 0 0 1 0 0 RAD18 56852 broad.mit.edu 37 3 8955357 8955357 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:8955357G>A ENST00000264926.2 - 8 1053 c.937C>T c.(937-939)Cgt>Tgt p.R313C NM_020165.3 NP_064550.3 Q9NS91 RAD18_HUMAN RAD18 homolog (S. cerevisiae) 313 DNA repair nucleus|replication fork damaged DNA binding|ligase activity|ubiquitin protein ligase binding|Y-form DNA binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3) 15 OV - Ovarian serous cystadenocarcinoma(96;0.0552) GCTTCAAGACGCATCCTAGTC 0.308000 Rad6 pathway 5 27 0 0 1 0 0 ASTE1 28990 broad.mit.edu 37 3 130744027 130744027 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:130744027T>C ENST00000264992.3 - 3 565 c.124A>G c.(124-126)Agt>Ggt p.S42G ASTE1_ENST00000514044.1_Missense_Mutation_p.S42G NM_014065.2 NP_054784.2 Q2TB18 ASTE1_HUMAN asteroid homolog 1 (Drosophila) 42 DNA repair nuclease activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1) 22 AAGTTTGAACTGAAGCAAAGA 0.373000 36 138 0 0 1 0 0 CROCC 9696 broad.mit.edu 37 1 17292528 17292528 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:17292528G>A ENST00000375541.5 + 29 4679 c.4610G>A c.(4609-4611)cGc>cAc p.R1537H NM_014675.3 NP_055490.3 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil, rootletin 1537 cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1) 62 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) GCCCTGAATCGCCAGCTGGCC 0.632000 21 73 0 0 1 0 0 USP7 7874 broad.mit.edu 37 16 8989584 8989584 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:8989584A>G ENST00000344836.4 - 27 3032 c.2834T>C c.(2833-2835)gTa>gCa p.V945A USP7_ENST00000535863.1_Missense_Mutation_p.V846A|USP7_ENST00000381886.4_Missense_Mutation_p.V929A NM_003470.2 NP_003461.2 Q93009 UBP7_HUMAN ubiquitin specific peptidase 7 (herpes virus-associated) 945 interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process cytoplasm|PML body cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 48 TTTGTAGCTTACAATTTCTAG 0.338000 9 27 0 0 1 0 0 PCDHB7 56129 broad.mit.edu 37 5 140554213 140554213 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:140554213C>T ENST00000231137.3 + 1 1971 c.1797C>T c.(1795-1797)aaC>aaT p.N599N NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 599 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGGGCCAGAACGCCTGGCTGT 0.711000 42 492 0 0 1 0 0 VANGL2 57216 broad.mit.edu 37 1 160394995 160394995 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:160394995G>A ENST00000368061.2 + 8 1867 c.1393G>A c.(1393-1395)Gag>Aag p.E465K NM_020335.2 NP_065068.1 Q9ULK5 VANG2_HUMAN VANGL planar cell polarity protein 2 465 apical protein localization|heart looping|nonmotile primary cilium assembly apical plasma membrane|integral to membrane p.E465K(1) biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1) 37 all_cancers(52;1.08e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) ATTGGTGAGCGAGGAGCCGGT 0.552000 9 45 0 0 1 0 0 IFRD2 7866 broad.mit.edu 37 3 50330103 50330103 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:50330103T>C ENST00000336089.4 - 2 201 c.202A>G c.(202-204)Acc>Gcc p.T68A IFRD2_ENST00000436390.1_5'UTR Q12894 IFRD2_HUMAN interferon-related developmental regulator 2 0 binding breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1) 14 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) TGCACGGTGGTTAACTCCGAA 0.672000 5 101 0 0 1 0 0 ACAD11 84129 broad.mit.edu 37 3 132360899 132360899 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:132360899T>C ENST00000264990.6 - 4 1425 c.454A>G c.(454-456)Aca>Gca p.T152A ACAD11_ENST00000355458.3_Missense_Mutation_p.T152A|ACAD11_ENST00000481970.2_Missense_Mutation_p.T152A|ACAD11_ENST00000545291.1_5'UTR|ACAD11_ENST00000489991.1_Intron NM_032169.4 NP_115545.3 acyl-CoA dehydrogenase family, member 11 breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 36 TGAGCCAATGTTTCTACCGTG 0.443000 33 110 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 186113680 186113680 + Missense_Mutation SNP C C T rs41317503 byFrequency TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:186113680C>T ENST00000271588.4 + 91 14340 c.14111C>T c.(14110-14112)gCg>gTg p.A4704V HMCN1_ENST00000367492.2_Missense_Mutation_p.A4704V NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 4704 TSP type-1 4. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 GGCAAGTGGGCGACTTGGGCC 0.517000 9 232 0 0 1 0 0 PCDHGA4 56111 broad.mit.edu 37 5 140735666 140735666 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:140735666A>G ENST00000571252.1 + 1 899 c.899A>G c.(898-900)gAt>gGt p.D300G PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018917.2 NP_061740.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGAGTGGGGATATAACAATA 0.438000 12 34 0 0 1 0 0 CRISPLD2 83716 broad.mit.edu 37 16 84900593 84900593 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:84900593C>T ENST00000262424.5 + 7 1024 c.800C>T c.(799-801)cCg>cTg p.P267L CRISPLD2_ENST00000567845.1_Missense_Mutation_p.P266L|CRISPLD2_ENST00000564567.1_Missense_Mutation_p.P267L NM_031476.3 NP_113664.1 Q9H0B8 CRLD2_HUMAN cysteine-rich secretory protein LCCL domain containing 2 267 extracellular region|transport vesicle endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1) 18 TGGCTCCAACCGAGGGTGATG 0.537000 24 77 0 0 1 0 0 CAPN10 11132 broad.mit.edu 37 2 241534605 241534605 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:241534605C>T ENST00000391984.2 + 7 1358 c.1162C>T c.(1162-1164)Cac>Tac p.H388Y CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000354082.4_Missense_Mutation_p.H388Y|CAPN10_ENST00000404753.3_Missense_Mutation_p.H388Y|CAPN10_ENST00000391982.2_Missense_Mutation_p.H388Y NM_023083.3 NP_075571.1 Q9HC96 CAN10_HUMAN calpain 10 388 Domain III 1. actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis cytosol|plasma membrane calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1) 27 all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032) ATCCAGGCTGCACGCGGCGGA 0.647000 30 93 0 0 1 0 0 SPDEF 25803 broad.mit.edu 37 6 34512036 34512036 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:34512036A>G ENST00000374037.3 - 2 611 c.197T>C c.(196-198)cTg>cCg p.L66P SPDEF_ENST00000544425.1_Missense_Mutation_p.L66P NM_012391.2 NP_036523.1 O95238 SPDEF_HUMAN SAM pointed domain containing ETS transcription factor 66 negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3) 15 CTCAGGGTACAGCATGTCAAA 0.667000 23 77 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37027420 37027420 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chrX:37027420T>C ENST00000358047.3 + 1 989 c.937T>C c.(937-939)Tca>Cca p.S313P NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 313 breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 GCCTCCCAAGTCACGCGTATC 0.602000 48 36 0 0 1 0 0 ZFYVE16 9765 broad.mit.edu 37 5 79741121 79741121 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:79741121A>G ENST00000338008.5 + 6 2801 c.2621A>G c.(2620-2622)gAt>gGt p.D874G ZFYVE16_ENST00000505560.1_Missense_Mutation_p.D874G|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.D874G NM_014733.3 NP_055548.3 Q7Z3T8 ZFY16_HUMAN zinc finger, FYVE domain containing 16 874 BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization early endosome membrane 1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36) TGGTTTGCAGATGGTATATTG 0.358000 19 65 0 0 1 0 0 KIAA1549L 25758 broad.mit.edu 37 11 33631336 33631336 + Nonsense_Mutation SNP T T G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:33631336T>G ENST00000321505.4 + 14 4392 c.4212T>G c.(4210-4212)taT>taG p.Y1404* KIAA1549L_ENST00000389726.3_Nonsense_Mutation_p.Y1410* KIAA1549-like TCGAGCACTATCGGAACAAGC 0.547000 6 25 0 0 1 0 0 SEC23B 10483 broad.mit.edu 37 20 18523805 18523805 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:18523805C>T ENST00000336714.3 + 14 2086 c.1654C>T c.(1654-1656)Ctc>Ttc p.L552F SEC23B_ENST00000262544.2_Missense_Mutation_p.L552F|SEC23B_ENST00000377475.3_Missense_Mutation_p.L552F|SEC23B_ENST00000377465.1_Missense_Mutation_p.L552F NM_006363.4|NM_032985.4|NM_032986.3 NP_006354.2|NP_116780.1|NP_116781.1 Q15437 SC23B_HUMAN Sec23 homolog B (S. cerevisiae) 552 ER to Golgi vesicle-mediated transport|intracellular protein transport COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 32 GGACCGACAACTCATCCGACT 0.502000 37 137 0 0 1 0 0 MTFR2 113115 broad.mit.edu 37 6 136564004 136564004 + Missense_Mutation SNP T T A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:136564004T>A ENST00000420702.1 - 4 665 c.276A>T c.(274-276)agA>agT p.R92S MTFR2_ENST00000451457.2_Missense_Mutation_p.R92S NM_001099286.1 NP_001092756.1 mitochondrial fission regulator 2 ATTACCGAAATCTGAGATAAC 0.358000 9 46 0 0 1 0 0 ROR1 4919 broad.mit.edu 37 1 64643562 64643562 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:64643562A>G ENST00000371079.1 + 9 2213 c.1838A>G c.(1837-1839)cAc>cGc p.H613R ROR1_ENST00000545203.1_Missense_Mutation_p.H64R NM_005012.3 NP_005003.2 Q01973 ROR1_HUMAN receptor tyrosine kinase-like orphan receptor 1 613 Protein kinase. transmembrane receptor protein tyrosine kinase signaling pathway cytoplasm|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 51 TTCTTTGTCCACAAGGACCTT 0.448000 23 54 0 0 1 0 0 RND3 390 broad.mit.edu 37 2 151328152 151328152 + Missense_Mutation SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:151328152A>T ENST00000375734.2 - 4 721 c.472T>A c.(472-474)Tcc>Acc p.S158T RND3_ENST00000409557.1_Missense_Mutation_p.S29T|RND3_ENST00000472416.1_5'UTR|RND3_ENST00000263895.4_Missense_Mutation_p.S158T NM_001254738.1 NP_001241667.1 P61587 RND3_HUMAN Rho family GTPase 3 158 actin cytoskeleton organization|cell adhesion|small GTPase mediated signal transduction Golgi membrane GTP binding|GTPase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|urinary_tract(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.106) TGGTCATAGGACACTGGCGTC 0.403000 22 89 0 0 1 0 0 PCDHGA1 56114 broad.mit.edu 37 5 140712134 140712134 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:140712134C>T ENST00000517417.1 + 1 1883 c.1883C>T c.(1882-1884)aCg>aTg p.T628M PCDHGA1_ENST00000378105.3_Missense_Mutation_p.T628M NM_018912.2 NP_061735.1 breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAGGTGCGCACGGCGCGAGCC 0.697000 31 91 0 0 1 0 0 ARSI 340075 broad.mit.edu 37 5 149677774 149677774 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:149677774A>G ENST00000328668.7 - 2 1292 c.713T>C c.(712-714)gTa>gCa p.V238A NM_001012301.2 NP_001012301.1 Q5FYB1 ARSI_HUMAN arylsulfatase family, member I 238 endoplasmic reticulum|extracellular region arylsulfatase activity|metal ion binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 23 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GGGTGTGTGTACTGCCTGGAA 0.622000 16 61 0 0 1 0 0 C2orf16 84226 broad.mit.edu 37 2 27800482 27800482 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:27800482C>T ENST00000408964.2 + 1 1094 c.1043C>T c.(1042-1044)tCa>tTa p.S348L NM_032266.3 NP_115642.3 Q68DN1 CB016_HUMAN chromosome 2 open reading frame 16 348 breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1) 47 Acute lymphoblastic leukemia(172;0.155) GATTCTGCTTCAGGGATGACA 0.443000 25 83 0 0 1 0 0 WWP2 11060 broad.mit.edu 37 16 69874094 69874094 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:69874094G>A ENST00000359154.2 + 5 507 c.406G>A c.(406-408)Gag>Aag p.E136K WWP2_ENST00000356003.2_Missense_Mutation_p.E136K|WWP2_ENST00000569174.1_Missense_Mutation_p.E136K|WWP2_ENST00000448661.1_Missense_Mutation_p.E136K|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000542271.1_Missense_Mutation_p.E20K NM_001270454.1|NM_007014.4 NP_001257383.1|NP_008945.2 O00308 WWP2_HUMAN WW domain containing E3 ubiquitin protein ligase 2 136 E -> K (in Ref. 1; AAC51325). entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus|ubiquitin ligase complex RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 CTCAGGCGGAGAGCTGACAAT 0.552000 4 137 0 0 1 0 0 UTRN 7402 broad.mit.edu 37 6 144747450 144747450 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:144747450T>C ENST00000367545.3 + 6 433 c.433T>C c.(433-435)Tcg>Ccg p.S145P NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin 145 Actin-binding. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 148 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) GGATGTCATGTCGGACCTGCA 0.478000 24 80 0 0 1 0 0 ZAK 51776 broad.mit.edu 37 2 174130844 174130844 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:174130844G>A ENST00000375213.3 + 20 1847 c.1769G>A c.(1768-1770)cGt>cAt p.R590H MLTK_ENST00000409176.2_Missense_Mutation_p.R590H|MLK7-AS1_ENST00000423106.2_RNA|MLK7-AS1_ENST00000422703.1_RNA NM_016653.2 NP_057737.2 p.R590H(1) TCTTTACAGCGTTCCCAGAGC 0.512000 6 19 0 0 1 0 0 TAS2R8 50836 broad.mit.edu 37 12 10958702 10958702 + Missense_Mutation SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:10958702C>A ENST00000240615.2 - 1 1190 c.878G>T c.(877-879)aGg>aTg p.R293M NM_023918.1 NP_076407.1 Q9NYW2 TA2R8_HUMAN taste receptor, type 2, member 8 293 sensory perception of taste integral to membrane taste receptor activity endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 AAATGTCTGCCTCAGTTTATT 0.333000 21 36 1.96895e-08 2.03015e-08 1 1 0 SKOR1 390598 broad.mit.edu 37 15 68118741 68118741 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:68118741G>A ENST00000380035.2 + 2 633 c.575G>A c.(574-576)cGt>cAt p.R192H SKOR1_ENST00000554054.1_Missense_Mutation_p.R164H|SKOR1_ENST00000341418.5_Missense_Mutation_p.R378H|SKOR1_ENST00000554240.1_Missense_Mutation_p.R153H|SKOR1_ENST00000389002.1_Missense_Mutation_p.R183H P84550 SKOR1_HUMAN SKI family transcriptional corepressor 1 192 negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent cytoplasm|dendrite|neuronal cell body|nucleus nucleotide binding|SMAD binding|transcription repressor activity endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1) 23 TGGGGCTCGCGTGGTAGCTTC 0.592000 36 104 0 0 1 0 0 SLC35B1 10237 broad.mit.edu 37 17 47780584 47780584 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:47780584A>G ENST00000240333.6 - 7 849 c.728T>C c.(727-729)aTc>aCc p.I243T SLC35B1_ENST00000415270.2_Missense_Mutation_p.I280T P78383 S35B1_HUMAN solute carrier family 35, member B1 243 endoplasmic reticulum membrane|integral to membrane|microsome UDP-galactose transmembrane transporter activity endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(1) 7 AAAGAGCAGGATGTTATAGAT 0.522000 9 116 0 0 1 0 0 ADAM12 8038 broad.mit.edu 37 10 127760131 127760131 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:127760131G>A ENST00000368679.4 - 12 1556 c.1247C>T c.(1246-1248)cCg>cTg p.P416L ADAM12_ENST00000368676.4_Missense_Mutation_p.P416L NM_003474.4 NP_003465.3 O43184 ADA12_HUMAN ADAM metallopeptidase domain 12 416 Peptidase M12B. cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216) CCTGACTTCCGGCAGGTTAAA 0.542000 5 174 0 0 1 0 0 MANEAL 149175 broad.mit.edu 37 1 38265637 38265637 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:38265637T>C ENST00000373045.6 + 4 1517 c.1136T>C c.(1135-1137)gTc>gCc p.V379A RP11-109P14.9_ENST00000433474.1_RNA|MANEAL_ENST00000329006.5_Missense_Mutation_p.V157A|MANEAL_ENST00000525897.1_Missense_Mutation_p.V185A|MANEAL_ENST00000397631.3_3'UTR NM_001113482.1 NP_001106954.1 Q5VSG8 MANEL_HUMAN mannosidase, endo-alpha-like 379 Golgi membrane|integral to membrane hydrolase activity endometrium(1)|large_intestine(1)|liver(1)|lung(1)|prostate(3) 7 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) CGCAACAGGGTCAATGGCAAG 0.562000 20 98 0 0 1 0 0 DHX9 1660 broad.mit.edu 37 1 182852455 182852455 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:182852455T>C ENST00000367549.3 + 25 3206 c.3096T>C c.(3094-3096)agT>agC p.S1032S DHX9_ENST00000485081.1_3'UTR NM_001357.4 NP_001348.2 Q08211 DHX9_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 9 1032 CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 49 GTCCTTTTAGTAGCCAAGACA 0.358000 13 29 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103155699 103155699 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:103155699G>A ENST00000424685.2 - 50 8211 c.8052C>T c.(8050-8052)cgC>cgT p.R2684R RELN_ENST00000343529.5_Silent_p.R2684R|RELN_ENST00000428762.1_Silent_p.R2684R P78509 RELN_HUMAN reelin 2684 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CTGCAGGGGAGCGCTCATGCT 0.532000 17 49 0 0 1 0 0 BCAN 63827 broad.mit.edu 37 1 156618588 156618588 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:156618588T>C ENST00000329117.4 + 6 1334 c.998T>C c.(997-999)tTc>tCc p.F333S BCAN_ENST00000361588.5_Missense_Mutation_p.F333S|RP11-284F21.7_ENST00000448869.1_RNA NM_021948.4 NP_068767.3 Q96GW7 PGCB_HUMAN brevican 333 Link 2. cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 55 all_hematologic(923;0.088)|Hepatocellular(266;0.158) AAGACTCTCTTCCTCTTCCCC 0.607000 4 224 0 0 1 0 0 IL1RAP 3556 broad.mit.edu 37 3 190347252 190347252 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:190347252G>A ENST00000412504.2 + 8 1268 c.1016G>A c.(1015-1017)gGc>gAc p.G339D IL1RAP_ENST00000072516.3_Missense_Mutation_p.G339D|IL1RAP_ENST00000443369.2_Missense_Mutation_p.G339D|IL1RAP_ENST00000422485.1_Missense_Mutation_p.G339D|IL1RAP_ENST00000447382.1_Missense_Mutation_p.G339D|IL1RAP_ENST00000439062.1_Missense_Mutation_p.G339D|IL1RAP_ENST00000422940.1_Missense_Mutation_p.G339D|IL1RAP_ENST00000434491.1_Missense_Mutation_p.G198D|IL1RAP_ENST00000317757.3_Missense_Mutation_p.G339D Q9NPH3 IL1AP_HUMAN interleukin 1 receptor accessory protein 339 Ig-like C2-type 3. inflammatory response|innate immune response|protein complex assembly extracellular region|integral to plasma membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 20 all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21) Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06) GBM - Glioblastoma multiforme(93;0.00851) AGTGCCAAAGGCGAAGTTGCC 0.428000 9 44 0 0 1 0 0 CDH13 1012 broad.mit.edu 37 16 83520084 83520084 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:83520084A>G ENST00000566620.1 + 7 1074 c.784A>G c.(784-786)Acc>Gcc p.T262A CDH13_ENST00000569454.1_3'UTR|CDH13_ENST00000428848.3_Missense_Mutation_p.T223A|CDH13_ENST00000268613.10_Missense_Mutation_p.T309A NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4 NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1 P55290 CAD13_HUMAN cadherin 13 262 Cadherin 2. adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding large_intestine(1) 1 all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09) COAD - Colon adenocarcinoma(5;0.0268) CCCGGTAGGCACCACAGTGAT 0.567000 16 38 0 0 1 0 0 CHD2 1106 broad.mit.edu 37 15 93567810 93567810 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:93567810C>T ENST00000394196.4 + 39 6430 c.5362C>T c.(5362-5364)Cgc>Tgc p.R1788C NM_001271.3 NP_001262.3 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 1788 regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 47 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) CTCAGATCCTCGCTCACCCCC 0.502000 4 74 0 0 1 0 0 FRMD4A 55691 broad.mit.edu 37 10 13699253 13699253 + Missense_Mutation SNP G G A rs139853925 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:13699253G>A ENST00000357447.2 - 22 2704 c.2336C>T c.(2335-2337)gCg>gTg p.A779V FRMD4A_ENST00000378503.1_Missense_Mutation_p.A779V|FRMD4A_ENST00000358621.4_Missense_Mutation_p.A764V NM_018027.3 NP_060497.3 Q9P2Q2 FRM4A_HUMAN FERM domain containing 4A 779 cytoplasm|cytoskeleton binding breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 41 CCTCTGGCGCGCCTTGGACGG 0.731000 3 11 0 0 1 0 0 LETMD1 25875 broad.mit.edu 37 12 51449704 51449704 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:51449704G>A ENST00000418425.2 + 5 618 c.599G>A c.(598-600)cGg>cAg p.R200Q LETMD1_ENST00000380123.2_3'UTR|LETMD1_ENST00000262055.4_Missense_Mutation_p.R187Q|LETMD1_ENST00000550929.1_Missense_Mutation_p.R131Q|LETMD1_ENST00000548516.1_Intron|LETMD1_ENST00000552739.1_Missense_Mutation_p.R70Q|LETMD1_ENST00000547008.1_Intron NM_001243689.1 NP_001230618.1 Q6P1Q0 LTMD1_HUMAN LETM1 domain containing 1 187 LETM1. integral to membrane|mitochondrial outer membrane protein binding central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3) 16 CATGCTTTCCGGAAGCAGTCC 0.448000 4 148 0 0 1 0 0 PLA2G4C 8605 broad.mit.edu 37 19 48608657 48608657 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:48608657G>A ENST00000354276.3 - 3 380 c.53C>T c.(52-54)gCg>gTg p.A18V PLA2G4C_ENST00000599921.1_Missense_Mutation_p.A18V|PLA2G4C_ENST00000413144.2_Missense_Mutation_p.A18V|PLA2G4C_ENST00000599111.1_Missense_Mutation_p.A28V NM_001159323.1 NP_001152795.1 Q9UP65 PA24C_HUMAN phospholipase A2, group IVC (cytosolic, calcium-independent) 18 PLA2c. arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition cytosol|membrane calcium-independent phospholipase A2 activity|phospholipid binding p.A18V(1) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3) 38 all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717) CTCCACGGCCGCCTTTTCTTC 0.483000 6 152 0 0 1 0 0 ZNF211 10520 broad.mit.edu 37 19 58145234 58145234 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:58145234A>G ENST00000544273.1 + 2 375 c.48A>G c.(46-48)acA>acG p.T16T ZNF211_ENST00000254182.7_Intron|ZNF211_ENST00000420680.1_Intron|ZNF211_ENST00000240731.4_Intron|ZNF211_ENST00000391703.3_Intron|ZNF211_ENST00000541801.1_Intron|ZNF211_ENST00000299871.5_Intron|ZNF211_ENST00000347302.3_Intron Q13398 ZN211_HUMAN zinc finger protein 211 0 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) ccaaggccacacaactggtga 0.522000 5 27 0 0 1 0 0 SOGA2 23255 broad.mit.edu 37 18 8824861 8824861 + Missense_Mutation SNP A A G rs112747828 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr18:8824861A>G ENST00000359865.3 + 15 3495 c.3353A>G c.(3352-3354)tAc>tGc p.Y1118C SOGA2_ENST00000400050.3_Missense_Mutation_p.Y1077C|SOGA2_ENST00000518815.1_Missense_Mutation_p.Y443C|SOGA2_ENST00000306329.11_Missense_Mutation_p.Y1437C|SOGA2_ENST00000517570.1_Missense_Mutation_p.Y1077C|SOGA2_ENST00000306285.7_Missense_Mutation_p.Y443C NM_015210.3 NP_056025.2 Q9Y4B5 CC165_HUMAN SOGA family member 2 1428 AGCTGGGACTACACACCCAAC 0.642000 42 119 0 0 1 0 0 FAM175A 84142 broad.mit.edu 37 4 84390289 84390289 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:84390289T>C ENST00000321945.7 - 6 600 c.492A>G c.(490-492)gtA>gtG p.V164V FAM175A_ENST00000506553.1_Silent_p.V115V|MRPS18C_ENST00000509571.1_Intron|FAM175A_ENST00000505489.1_5'UTR NM_139076.2 NP_620775.2 Q6UWZ7 F175A_HUMAN family with sequence similarity 175, member A 164 chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|response to ionizing radiation BRCA1-A complex polyubiquitin binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1) 13 CCACTAAAGGTACCCTGTGAA 0.383000 35 99 0 0 1 0 0 TMEM25 84866 broad.mit.edu 37 11 118404221 118404221 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:118404221A>G ENST00000313236.5 + 5 813 c.760A>G c.(760-762)Acc>Gcc p.T254A TMEM25_ENST00000411589.2_Intron|TMEM25_ENST00000524725.1_Intron|TMEM25_ENST00000442938.2_Intron|TMEM25_ENST00000354064.7_Intron|TMEM25_ENST00000354284.4_Missense_Mutation_p.T254A|TMEM25_ENST00000529001.1_3'UTR|TMEM25_ENST00000544878.1_Missense_Mutation_p.T157A|TMEM25_ENST00000533102.1_Missense_Mutation_p.T254A|TMEM25_ENST00000359862.4_Intron NM_032780.3 NP_116169.2 Q86YD3 TMM25_HUMAN transmembrane protein 25 254 extracellular region|integral to membrane|plasma membrane endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1) 13 all_hematologic(175;0.0349) Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735) BRCA - Breast invasive adenocarcinoma(274;3.04e-05) GGGGTTCAGCACCTTGGTGGC 0.607000 24 62 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 3265497 3265497 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:3265497G>A ENST00000520002.1 - 15 2553 c.1998C>T c.(1996-1998)agC>agT p.S666S CSMD1_ENST00000602557.1_Silent_p.S666S|CSMD1_ENST00000602723.1_Silent_p.S666S|CSMD1_ENST00000539096.1_Silent_p.S665S|CSMD1_ENST00000542608.1_Silent_p.S665S|CSMD1_ENST00000537824.1_Silent_p.S665S|CSMD1_ENST00000400186.3_Silent_p.S666S Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 666 CUB 4. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TATGCCCACTGCTGGCCAGCT 0.488000 20 33 0 0 1 0 0 CNTLN 54875 broad.mit.edu 37 9 17340896 17340896 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:17340896C>T ENST00000380647.3 + 11 1800 c.1716C>T c.(1714-1716)aaC>aaT p.N572N CNTLN_ENST00000425824.1_Silent_p.N572N|CNTLN_ENST00000262360.5_Silent_p.N572N Q9NXG0 CNTLN_HUMAN centlein, centrosomal protein 572 centriole|membrane two-component sensor activity breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 GBM - Glioblastoma multiforme(50;6.14e-10) TACAGACCAACTACAGAGCAG 0.388000 7 42 0 0 1 0 0 TRPM3 80036 broad.mit.edu 37 9 73461507 73461507 + Splice_Site SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:73461507A>G ENST00000377110.2 - 4 706 c.462_splice c.e4-1 p.Y155_splice TRPM3_ENST00000357533.2_Splice_Site_p.Y157_splice|TRPM3_ENST00000396292.4_Splice_Site_p.Y2_splice|TRPM3_ENST00000396285.1_Splice_Site_p.Y2_splice|TRPM3_ENST00000396283.1_Splice_Site_p.Y2_splice|TRPM3_ENST00000377097.3_Splice_Site_p.Y2_splice|TRPM3_ENST00000396280.5_Splice_Site_p.Y2_splice|TRPM3_ENST00000360823.2_Splice_Site_p.Y2_splice|TRPM3_ENST00000408909.2_Splice_Site_p.Y2_splice|TRPM3_ENST00000377101.1_Splice_Site_p.Y2_splice|TRPM3_ENST00000423814.3_Splice_Site_p.Y157_splice|TRPM3_ENST00000377111.2_Splice_Site_p.Y155_splice|TRPM3_ENST00000377106.1_Splice_Site_p.Y2_splice|TRPM3_ENST00000358082.3_Splice_Site_p.Y2_splice|TRPM3_ENST00000361823.5_Splice_Site_p.Y2_splice|TRPM3_ENST00000377105.1_Splice_Site_p.Y2_splice NM_001007471.2 NP_001007472.2 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, subfamily M, member 3 155 integral to membrane calcium channel activity NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 ACTCGCACATACTGGAAGAAG 0.428000 15 52 0 0 1 0 0 DDX11 1663 broad.mit.edu 37 12 31255934 31255934 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:31255934G>A ENST00000407793.2 + 24 2688 c.2437G>A c.(2437-2439)Gcc>Acc p.A813T DDX11_ENST00000542838.1_Missense_Mutation_p.A813T|DDX11_ENST00000350437.4_Missense_Mutation_p.A763T|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000228264.6_Missense_Mutation_p.A787T|DDX11_ENST00000545668.1_Missense_Mutation_p.A813T NM_030653.3|NM_152438.1 NP_085911.2|NP_689651.1 Q96FC9 DDX11_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 813 G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion midbody|nuclear chromatin|nucleolus|spindle pole ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 57 all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) GGAGAAGATGGCCTACTTGGA 0.607000 Multiple Myeloma(12;0.14) 14 68 0 0 1 0 0 LINS 55180 broad.mit.edu 37 15 101120735 101120735 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:101120735A>G ENST00000314742.8 - 2 535 c.313T>C c.(313-315)Tct>Cct p.S105P LINS_ENST00000560133.1_Intron|LINS_ENST00000559149.1_5'UTR|LINS_ENST00000561308.1_Missense_Mutation_p.S105P NM_001040616.2 NP_001035706.1 Q8NG48 LINES_HUMAN lines homolog (Drosophila) 105 central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4) 21 GTTTTGACAGACAATATCCGG 0.403000 19 53 0 0 1 0 0 DICER1 23405 broad.mit.edu 37 14 95590838 95590838 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:95590838T>C ENST00000526495.1 - 10 1362 c.1071A>G c.(1069-1071)gcA>gcG p.A357A DICER1_ENST00000343455.3_Silent_p.A357A|DICER1_ENST00000541352.1_Silent_p.A357A|DICER1_ENST00000393063.1_Silent_p.A357A|DICER1_ENST00000527414.1_Silent_p.A357A Q9UPY3 DICER_HUMAN dicer 1, ribonuclease type III 357 Required for interaction with PRKRA and TARBP2. negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference cytosol|RNA-induced silencing complex ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3) 75 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) CTTCACATAGTGCATGTATTT 0.368000 """Mis F, N""" """sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma""" pleuropulmonary blastoma Familial Multinodular Goiter ;DICER 1 syndrome 29 103 0 0 1 0 0 PNKD 25953 broad.mit.edu 37 2 219204794 219204794 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:219204794G>A ENST00000273077.4 + 4 446 c.395G>A c.(394-396)aGc>aAc p.S132N PNKD_ENST00000258362.3_Missense_Mutation_p.S108N|AC021016.8_ENST00000411433.1_RNA|PNKD_ENST00000436005.2_Missense_Mutation_p.S72N NM_015488.4 NP_056303.3 Q8N490 PNKD_HUMAN paroxysmal nonkinesigenic dyskinesia 132 membrane|mitochondrion|nucleus hydroxyacylglutathione hydrolase activity|zinc ion binding NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2) 10 Renal(207;0.0474) Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GACAACTACAGCTACCTCATC 0.662000 19 83 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10429085 10429085 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:10429085C>T ENST00000245503.5 - 31 4680 c.4296G>A c.(4294-4296)gaG>gaA p.E1432E MYH2_ENST00000397183.2_Silent_p.E1432E|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000399342.2_RNA NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 1432 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 GCATGAGGTCCTCGACCTCAT 0.537000 29 107 0 0 1 0 0 ANO9 338440 broad.mit.edu 37 11 429622 429622 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:429622T>C ENST00000332826.6 - 11 947 c.863A>G c.(862-864)cAg>cGg p.Q288R NM_001012302.2 NP_001012302.2 A1A5B4 ANO9_HUMAN anoctamin 9 288 chloride channel complex chloride channel activity central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4) 21 GCGGGCGCGCTGCCGCTTCCA 0.687000 16 68 0 0 1 0 0 DNAH1 25981 broad.mit.edu 37 3 52400777 52400777 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:52400777C>T ENST00000420323.2 + 36 5900 c.5639C>T c.(5638-5640)aCg>aTg p.T1880M NM_015512.4 NP_056327.4 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 1880 AAA 2 (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) GCTGCCATGACGTCACTGAAA 0.612000 29 87 0 0 1 0 0 MRGPRX2 117194 broad.mit.edu 37 11 19077629 19077629 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:19077629A>G ENST00000329773.2 - 2 408 c.321T>C c.(319-321)acT>acC p.T107T NM_054030.2 NP_473371.1 Q96LB1 MRGX2_HUMAN MAS-related GPR, member X2 107 sensory perception of pain|sleep plasma membrane G-protein coupled receptor activity|neuropeptide binding NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1) 15 AGGTCATCACAGTGGTGAAGA 0.547000 19 110 0 0 1 0 0 AS3MT 57412 broad.mit.edu 37 10 104660390 104660390 + Missense_Mutation SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:104660390A>T ENST00000369880.3 + 11 1138 c.1061A>T c.(1060-1062)gAc>gTc p.D354V C10ORF32_ENST00000299353.6_3'UTR NM_020682.3 NP_065733.2 Q9HBK9 AS3MT_HUMAN arsenic (+3 oxidation state) methyltransferase 354 arsonoacetate metabolic process|toxin metabolic process cytosol arsenite methyltransferase activity|methylarsonite methyltransferase activity large_intestine(1)|lung(6) 7 Colorectal(252;0.122)|all_hematologic(284;0.152)|Breast(234;0.198) Epithelial(162;5.87e-09)|all cancers(201;1.58e-07)|BRCA - Breast invasive adenocarcinoma(275;0.223) GAAGAGTCTGACAGTATGAAG 0.443000 27 96 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149492408 149492408 + RNA SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:149492408C>A ENST00000378016.2 + 0 6297 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GGGCTCCCACCCAGGGGCCCA 0.672000 14 37 1.49906e-05 1.53131e-05 1 1 0 SGSM1 129049 broad.mit.edu 37 22 25308672 25308672 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr22:25308672G>A ENST00000400358.4 + 22 2938 c.2881G>A c.(2881-2883)Gga>Aga p.G961R SGSM1_ENST00000400359.4_Missense_Mutation_p.G1016R NM_001098497.1|NM_001098498.1 NP_001091967.1|NP_001091968.1 Q2NKQ1 SGSM1_HUMAN small G protein signaling modulator 1 1016 Rab-GAP TBC. Golgi apparatus Rab GTPase activator activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 41 CTTCCCCCACGGAGGCGCCAT 0.512000 5 21 0 0 1 0 0 ZNF749 388567 broad.mit.edu 37 19 57955220 57955220 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:57955220A>G ENST00000334181.4 + 3 954 c.704A>G c.(703-705)tAc>tGc p.Y235C AC004076.9_ENST00000596831.1_Intron NM_001023561.2 NP_001018855.2 O43361 ZN749_HUMAN zinc finger protein 749 235 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1) 13 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177) TTGTTTAGGTACAACTCCAAC 0.418000 17 67 0 0 1 0 0 PIAS4 51588 broad.mit.edu 37 19 4033130 4033130 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:4033130G>A ENST00000262971.2 + 8 1055 c.940G>A c.(940-942)Gag>Aag p.E314K NM_015897.2 NP_056981.2 Q8N2W9 PIAS4_HUMAN protein inhibitor of activated STAT, 4 314 positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|PML body DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3) 17 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18) TCCTGACAGCGAGATCGCCAC 0.682000 29 96 0 0 1 0 0 CACNB2 783 broad.mit.edu 37 10 18828508 18828508 + Missense_Mutation SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:18828508A>T ENST00000396576.2 + 13 2174 c.1673A>T c.(1672-1674)gAt>gTt p.D558V CACNB2_ENST00000377331.2_Missense_Mutation_p.D561V|CACNB2_ENST00000377329.4_Missense_Mutation_p.D559V|CACNB2_ENST00000377319.3_Missense_Mutation_p.D520V|CACNB2_ENST00000282343.8_Missense_Mutation_p.D585V|CACNB2_ENST00000377328.1_Missense_Mutation_p.D363V|CACNB2_ENST00000377315.4_Missense_Mutation_p.D565V|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000324631.7_Missense_Mutation_p.D613V|CACNB2_ENST00000352115.6_Missense_Mutation_p.D589V NM_000724.3 NP_000715.2 Q08289 CACB2_HUMAN calcium channel, voltage-dependent, beta 2 subunit 613 axon guidance|neuromuscular junction development integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2) 31 Magnesium Sulfate(DB00653)|Verapamil(DB00661) CGGGACGTGGATCGAGAGCAG 0.557000 20 85 0 0 1 0 0 E2F1 1869 broad.mit.edu 37 20 32266051 32266051 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:32266051A>G ENST00000343380.5 - 4 820 c.681T>C c.(679-681)tgT>tgC p.C227C NM_005225.2 NP_005216.1 Q01094 E2F1_HUMAN E2F transcription factor 1 227 Dimerization (Potential).|Required for interaction with TRIM28. apoptosis|cell proliferation|G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|mRNA stabilization|negative regulation of transcription involved in G1/S phase of mitotic cell cycle|positive regulation of fibroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle mitochondrion|Rb-E2F complex sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding NS(2)|breast(1)|endometrium(3)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 16 GCTGCGTAGTACAGATATTCA 0.622000 20 36 0 0 1 0 0 BLOC1S1 2647 broad.mit.edu 37 12 56112959 56112959 + Missense_Mutation SNP G G C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:56112959G>C ENST00000550412.1 + 3 319 c.303G>C c.(301-303)caG>caC p.Q101H RP11-644F5.10_ENST00000549424.1_Missense_Mutation_p.Q23H|BLOC1S1_ENST00000548556.1_Missense_Mutation_p.Q23H|BLOC1S1_ENST00000548925.1_Missense_Mutation_p.Q101H|BLOC1S1_ENST00000547076.1_Missense_Mutation_p.Q23H|BLOC1S1_ENST00000551926.1_Missense_Mutation_p.Q23H|BLOC1S1_ENST00000549147.1_Missense_Mutation_p.Q101H|BLOC1S1_ENST00000257899.2_Missense_Mutation_p.Q73H endometrium(1)|lung(1) 2 TTGCCAAGCAGACAGGCCAGT 0.592000 25 77 0 0 1 0 0 DNAH1 25981 broad.mit.edu 37 3 52430695 52430695 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:52430695G>A ENST00000420323.2 + 72 11753 c.11492G>A c.(11491-11493)cGc>cAc p.R3831H NM_015512.4 NP_056327.4 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 3896 AAA 6 (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) GCCCTGGAGCGCCATAAGTTT 0.577000 5 159 0 0 1 0 0 MEMO1 51072 broad.mit.edu 37 2 32108519 32108519 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:32108519C>T ENST00000295065.4 - 7 902 c.593G>A c.(592-594)cGt>cAt p.R198H MEMO1_ENST00000426310.2_Missense_Mutation_p.R175H|DPY30_ENST00000446765.1_5'UTR|MEMO1_ENST00000490459.1_Intron|MEMO1_ENST00000404530.1_Missense_Mutation_p.R198H|MEMO1_ENST00000379383.3_Missense_Mutation_p.R201H NM_015955.2 NP_057039.1 Q9Y316 MEMO1_HUMAN mediator of cell motility 1 198 regulation of microtubule-based process cytosol|nucleus NS(1)|breast(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|skin(2) 17 Acute lymphoblastic leukemia(172;0.155) GTAACTGTAACGGAACCTTTG 0.338000 63 209 0 0 1 0 0 MFSD6L 162387 broad.mit.edu 37 17 8701401 8701401 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:8701401A>G ENST00000329805.4 - 1 1266 c.1038T>C c.(1036-1038)tgT>tgC p.C346C NM_152599.3 NP_689812.3 Q8IWD5 MFS6L_HUMAN major facilitator superfamily domain containing 6-like 346 integral to membrane central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4) 17 CCCACTGCTGACAGATGGGAA 0.577000 18 61 0 0 1 0 0 ETFA 2108 broad.mit.edu 37 15 76580213 76580213 + Missense_Mutation SNP T T G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:76580213T>G ENST00000557943.1 - 5 505 c.425A>C c.(424-426)gAc>gCc p.D142A ETFA_ENST00000560726.1_5'UTR|ETFA_ENST00000433983.2_Missense_Mutation_p.D93A|ETFA_ENST00000559602.1_Missense_Mutation_p.D38A NM_000126.3 NP_000117.1 P13804 ETFA_HUMAN electron-transfer-flavoprotein, alpha polypeptide 142 respiratory electron transport chain|transport mitochondrial matrix electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 9 CACAAATGTGTCAGGTGACTT 0.353000 20 44 0 0 1 0 0 LTBP4 8425 broad.mit.edu 37 19 41122815 41122815 + Missense_Mutation SNP T T A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:41122815T>A ENST00000308370.7 + 23 3034 c.3034T>A c.(3034-3036)Tat>Aat p.Y1012N LTBP4_ENST00000396819.3_Missense_Mutation_p.Y945N|LTBP4_ENST00000204005.9_Missense_Mutation_p.Y975N|LTBP4_ENST00000243562.9_Intron|LTBP4_ENST00000545697.1_Intron|LTBP4_ENST00000602240.1_3'UTR NM_001042544.1 NP_001036009.1 Q8N2S1 LTBP4_HUMAN latent transforming growth factor beta binding protein 4 1012 Cys-rich. growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity central_nervous_system(1) 1 Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384) GTGCCAAGAATATGGTCCCGA 0.567000 18 36 0 0 1 0 0 NXPH3 11248 broad.mit.edu 37 17 47656067 47656067 + Missense_Mutation SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:47656067C>A ENST00000328741.5 + 2 526 c.164C>A c.(163-165)cCt>cAt p.P55H NXPH3_ENST00000513748.1_Missense_Mutation_p.P55H NM_007225.2 NP_009156.2 O95157 NXPH3_HUMAN neurexophilin 3 55 II. neuropeptide signaling pathway extracellular region endometrium(2)|large_intestine(3)|lung(4)|pancreas(1)|skin(2) 12 all_cancers(4;7.45e-14)|Breast(4;1.08e-27)|all_epithelial(4;2.27e-17) CACATCTCACCTAAGTCCCGC 0.697000 31 66 8.16721e-17 8.58394e-17 1 1 0 FAM47B 170062 broad.mit.edu 37 X 34962126 34962126 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chrX:34962126G>A ENST00000329357.5 + 1 1214 c.1178G>A c.(1177-1179)cGg>cAg p.R393Q NM_152631.2 NP_689844.2 Q8NA70 FA47B_HUMAN family with sequence similarity 47, member B 393 p.R393Q(1) breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 71 TTTGAGAGTCGGATGCCCCAT 0.587000 19 29 0 0 1 0 0 RFWD3 55159 broad.mit.edu 37 16 74695112 74695112 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:74695112T>C ENST00000361070.4 - 2 333 c.236A>G c.(235-237)gAc>gGc p.D79G RFWD3_ENST00000571750.1_Missense_Mutation_p.D79G NM_018124.3 NP_060594.3 Q6PCD5 RFWD3_HUMAN ring finger and WD repeat domain 3 79 DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation nucleus MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 26 TTCTGTCAGGTCAACAGACAG 0.547000 35 110 0 0 1 0 0 IGLV5-52 28779 broad.mit.edu 37 22 22673463 22673463 + RNA SNP C C T rs150977964 by1000genomes TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr22:22673463C>T ENST00000390289.2 + 0 261 LL22NC03-80A10.6_ENST00000426066.1_RNA AGTTCCCAGCCGCTTCTCTGG 0.542000 47 154 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228495962 228495962 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:228495962A>G ENST00000570156.2 + 58 15562 c.15488A>G c.(15487-15489)gAg>gGg p.E5163G OBSCN_ENST00000366707.4_Missense_Mutation_p.E1840G|OBSCN_ENST00000284548.11_Missense_Mutation_p.E4206G|OBSCN_ENST00000422127.1_Missense_Mutation_p.E4206G|OBSCN_ENST00000366709.4_Missense_Mutation_p.E1325G NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 4206 Ig-like 49. 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) GAGGTGACAGAGGTGGCTGTG 0.617000 3 52 0 0 1 0 0 FBXL8 55336 broad.mit.edu 37 16 67195837 67195837 + Missense_Mutation SNP T T A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:67195837T>A ENST00000258200.3 + 2 326 c.149T>A c.(148-150)aTc>aAc p.I50N FBXL8_ENST00000521920.1_Missense_Mutation_p.I50N|FBXL8_ENST00000518148.1_Missense_Mutation_p.I50N|FBXL8_ENST00000519917.1_Missense_Mutation_p.I50N Q96CD0 FBXL8_HUMAN F-box and leucine-rich repeat protein 8 50 protein binding endometrium(1) 1 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0144)|Epithelial(162;0.0338)|all cancers(182;0.185) GACACAAAAATCAGGTGAGCC 0.632000 5 15 0 0 1 0 0 IL1RAPL1 11141 broad.mit.edu 37 X 29301191 29301191 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chrX:29301191T>C ENST00000378993.1 + 3 892 c.219T>C c.(217-219)agT>agC p.S73S IL1RAPL1_ENST00000302196.4_Silent_p.S73S NM_014271.3 NP_055086.1 Q9NZN1 IRPL1_HUMAN interleukin 1 receptor accessory protein-like 1 73 Ig-like C2-type 1. innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development cytoplasm|integral to membrane|plasma membrane protein binding|transmembrane receptor activity biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 CTGGACTCAGTTTGATGTGGT 0.428000 18 35 0 0 1 0 0 TERF2IP 54386 broad.mit.edu 37 16 75681828 75681828 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:75681828T>C ENST00000300086.4 + 1 145 c.48T>C c.(46-48)caT>caC p.H16H NM_018975.3 NP_061848.2 Q9NYB0 TE2IP_HUMAN telomeric repeat binding factor 2, interacting protein 16 negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent cytoplasm|nuclear telomere cap complex|nucleoplasm DNA binding|protein binding central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1) 5 GGCCCACCCATTCCTCGACTC 0.652000 18 57 0 0 1 0 0 RET 5979 broad.mit.edu 37 10 43606836 43606836 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:43606836A>G ENST00000355710.3 + 7 1677 c.1445A>G c.(1444-1446)cAc>cGc p.H482R RET_ENST00000340058.5_Missense_Mutation_p.H482R NM_020975.4 NP_066124.1 P07949 RET_HUMAN ret proto-oncogene 482 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 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) GCCGAACTTCACTACATGGTG 0.632000 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 4 76 0 0 1 0 0 HYOU1 10525 broad.mit.edu 37 11 118916308 118916308 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:118916308T>C ENST00000404233.3 - 26 3121 c.2997A>G c.(2995-2997)ctA>ctG p.L999L HYOU1_ENST00000529972.1_Silent_p.L937L|HYOU1_ENST00000525859.1_Silent_p.L937L NM_001130991.1|NM_006389.3 NP_001124463.1|NP_006380.1 Q9Y4L1 HYOU1_HUMAN hypoxia up-regulated 1 999 endoplasmic reticulum lumen ATP binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2) 33 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207) BRCA - Breast invasive adenocarcinoma(274;7.78e-05) GTGGGGGTTATAGTTCGTCGT 0.522000 7 182 0 0 1 0 0 PDCD11 22984 broad.mit.edu 37 10 105201725 105201725 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:105201725A>G ENST00000369797.3 + 31 4794 c.4700A>G c.(4699-4701)cAa>cGa p.Q1567R NM_014976.1 NP_055791.1 Q14690 RRP5_HUMAN programmed cell death 11 1567 mRNA processing|rRNA processing nucleolus RNA binding|transcription factor binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) AAGCCACACCAAGCCACGGTG 0.557000 12 57 0 0 1 0 0 ZIC2 7546 broad.mit.edu 37 13 100635069 100635069 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr13:100635069T>C ENST00000376335.3 + 1 1044 c.751T>C c.(751-753)Tgc>Cgc p.C251R NM_007129.3 NP_009060.2 O95409 ZIC2_HUMAN Zic family member 2 251 Necessary for interaction with MDFIC and transcriptional activation or repression (By similarity). brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception cytoplasm|nucleus chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) GCGGCAGCAGTGCATCAAGCA 0.557000 5 154 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 170058296 170058296 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:170058296T>C ENST00000263816.3 - 44 8579 c.8294A>G c.(8293-8295)gAc>gGc p.D2765G NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 2765 LDL-receptor class A 17. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) ATCACCACAGTCATTGTAGTA 0.498000 26 60 0 0 1 0 0 CCZ1B 221960 broad.mit.edu 37 7 6864105 6864105 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:6864105T>C ENST00000316731.8 - 3 865 c.293A>G c.(292-294)gAa>gGa p.E98G CCZ1B_ENST00000538180.1_Intron NM_198097.3 NP_932765.1 P86790 CCZ1L_HUMAN CCZ1 vacuolar protein trafficking and biogenesis associated homolog B (S. cerevisiae) 98 lysosomal membrane CCAGAAATTTTCTTCTGGTTC 0.338000 28 90 0 0 1 0 0 EPHA6 285220 broad.mit.edu 37 3 97185296 97185296 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:97185296C>T ENST00000514100.1 + 4 282 c.40C>T c.(40-42)Ctt>Ttt p.L14F EPHA6_ENST00000389672.5_Intron|EPHA6_ENST00000502694.1_Missense_Mutation_p.L14F|EPHA6_ENST00000442602.2_Intron NM_001278300.1 NP_001265229.1 Q9UF33 EPHA6_HUMAN EPH receptor A6 0 integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 actgtactggcttaatgaaaa 0.433000 11 54 0 0 1 0 0 TRIM54 57159 broad.mit.edu 37 2 27528642 27528642 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:27528642C>T ENST00000296098.4 + 6 1196 c.926C>T c.(925-927)gCc>gTc p.A309V TRIM54_ENST00000380075.2_Missense_Mutation_p.A267V NM_032546.3 NP_115935.3 Q9BYV2 TRI54_HUMAN tripartite motif containing 54 267 COS. cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization microtubule|sarcomere signal transducer activity|zinc ion binding cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GTGGAGTCTGCCATCCAGTCC 0.642000 7 13 0 0 1 0 0 RB1CC1 9821 broad.mit.edu 37 8 53574192 53574192 + Missense_Mutation SNP T T A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:53574192T>A ENST00000025008.5 - 9 1784 c.1261A>T c.(1261-1263)Atg>Ttg p.M421L RB1CC1_ENST00000539297.1_Missense_Mutation_p.M421L|RB1CC1_ENST00000435644.2_Missense_Mutation_p.M421L|RB1CC1_ENST00000521611.1_Intron NM_014781.4 NP_055596.3 Q8TDY2 RBCC1_HUMAN RB1-inducible coiled-coil 1 421 autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex protein binding NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 60 all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023) AACATAATCATCAACTGATTT 0.348000 5 138 0 0 1 0 0 IGF2 3481 broad.mit.edu 37 11 2154836 2154836 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:2154836G>A ENST00000416167.2 - 3 1383 c.217C>T c.(217-219)Cgc>Tgc p.R73C IGF2_ENST00000418738.2_Missense_Mutation_p.R73C|IGF2_ENST00000434045.2_Missense_Mutation_p.R129C|IGF2_ENST00000381406.4_Missense_Mutation_p.R76C|IGF2_ENST00000337883.6_Missense_Mutation_p.R73C|IGF2_ENST00000381392.1_Missense_Mutation_p.R76C|IGF2_ENST00000381395.1_Missense_Mutation_p.R73C|IGF2_ENST00000300632.5_Missense_Mutation_p.R73C|IGF2_ENST00000381389.1_Missense_Mutation_p.R73C P01344 IGF2_HUMAN insulin-like growth factor 2 (somatomedin A) 73 A. glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development extracellular space growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1) 6 all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24) Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029) BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153) TCACAGCTGCGGAAACAGCAC 0.657000 17 33 0 0 1 0 0 SNRNP27 11017 broad.mit.edu 37 2 70123669 70123669 + Missense_Mutation SNP G G A rs139699067 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:70123669G>A ENST00000244227.3 + 3 682 c.257G>A c.(256-258)cGg>cAg p.R86Q SNRNP27_ENST00000409116.1_Missense_Mutation_p.R86Q|SNRNP27_ENST00000488986.1_3'UTR NM_006857.2 NP_006848.1 Q8WVK2 SNR27_HUMAN small nuclear ribonucleoprotein 27kDa (U4/U6.U5) 86 mRNA processing|RNA splicing nucleus nucleic acid binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(1)|upper_aerodigestive_tract(1) 11 aGCAAAGAACGGCAGATTACT 0.328000 4 41 0 0 1 0 0 ATP1A3 478 broad.mit.edu 37 19 42492485 42492485 + Missense_Mutation SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:42492485G>T ENST00000545399.1 - 3 330 c.177C>A c.(175-177)aaC>aaA p.N59K ATP1A3_ENST00000302102.5_Missense_Mutation_p.N46K|ATP1A3_ENST00000543770.1_Missense_Mutation_p.N57K|ATP1A3_ENST00000468774.2_5'UTR|ATP1A3_ENST00000602133.1_Missense_Mutation_p.N16K NM_001256214.1 NP_001243143.1 P13637 AT1A3_HUMAN ATPase, Na+/K+ transporting, alpha 3 polypeptide 46 ATP biosynthetic process endoplasmic reticulum|Golgi apparatus ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 52 CACAGTCTGTGTTGTATTTCC 0.617000 5 294 4.096e-09 4.23106e-09 1 1 0 HERC2 8924 broad.mit.edu 37 15 28502276 28502276 + Silent SNP G G A rs12903263 byFrequency TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:28502276G>A ENST00000261609.7 - 17 2556 c.2448C>T c.(2446-2448)tcC>tcT p.S816S NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 816 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) GCCAGTCCGCGGAACCATCCA 0.552000 33 92 0 0 1 0 0 TGM6 343641 broad.mit.edu 37 20 2377243 2377243 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:2377243A>G ENST00000202625.2 + 4 577 c.516A>G c.(514-516)atA>atG p.I172M TGM6_ENST00000477505.1_Intron|TGM6_ENST00000381423.1_Missense_Mutation_p.I172M NM_198994.2 NP_945345.2 O95932 TGM3L_HUMAN transglutaminase 6 172 cell death|peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4) 52 L-Glutamine(DB00130) AGAAGCACATACGAGCCCAGG 0.617000 17 36 0 0 1 0 0 OSBPL11 114885 broad.mit.edu 37 3 125271230 125271230 + Missense_Mutation SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:125271230A>T ENST00000296220.5 - 9 1738 c.1449T>A c.(1447-1449)aaT>aaA p.N483K NM_022776.4 NP_073613.2 Q9BXB4 OSB11_HUMAN oxysterol binding protein-like 11 483 lipid transport lipid binding NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1) 27 AAGGAGCATGATTTGTGACTC 0.468000 28 39 0 0 1 0 0 B3GNT7 93010 broad.mit.edu 37 2 232262574 232262574 + Silent SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:232262574C>A ENST00000287590.5 + 2 405 c.144C>A c.(142-144)gcC>gcA p.A48A B3GNT7_ENST00000479618.1_3'UTR NM_145236.2 NP_660279.1 Q8NFL0 B3GN7_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7 48 protein glycosylation Golgi membrane|integral to membrane galactosyltransferase activity endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1) 17 Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232) Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139) CACAGAAGGCCCAGAAGCCAA 0.642000 19 56 3.32936e-07 3.41723e-07 1 1 0 IFI35 3430 broad.mit.edu 37 17 41166213 41166213 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:41166213T>C ENST00000415816.2 + 7 981 c.758T>C c.(757-759)aTc>aCc p.I253T IFI35_ENST00000438323.2_Missense_Mutation_p.I255T NM_005533.4 NP_005524.2 P80217 IN35_HUMAN interferon-induced protein 35 253 response to virus|type I interferon-mediated signaling pathway nucleus protein binding central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1) 8 Breast(137;0.00499) BRCA - Breast invasive adenocarcinoma(366;0.157) GTCCTGGAGATCCACTTCCAG 0.612000 31 89 0 0 1 0 0 ARFGEF2 10564 broad.mit.edu 37 20 47635470 47635470 + Missense_Mutation SNP C C G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:47635470C>G ENST00000371917.4 + 34 4559 c.4559C>G c.(4558-4560)tCt>tGt p.S1520C NM_006420.2 NP_006411.2 Q9Y6D5 BIG2_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) 1520 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction cytosol|Golgi membrane ARF guanyl-nucleotide exchange factor activity breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 63 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) AAAAATCCCTCTGAGAGGGGA 0.413000 14 37 0 0 1 0 0 RSL24D1 51187 broad.mit.edu 37 15 55484953 55484953 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:55484953C>T ENST00000260443.4 - 2 336 c.160G>A c.(160-162)Gca>Aca p.A54T RSL24D1_ENST00000565854.1_5'UTR NM_016304.2 NP_057388.1 Q9UHA3 RLP24_HUMAN ribosomal L24 domain containing 1 54 ribosome biogenesis|translation nucleolus|ribosome structural constituent of ribosome central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1) 7 TTCCGGAATGCTTTGGTCCAC 0.348000 23 75 0 0 1 0 0 RGS20 8601 broad.mit.edu 37 8 54866827 54866827 + Missense_Mutation SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:54866827G>T ENST00000297313.3 + 5 1027 c.935G>T c.(934-936)aGg>aTg p.R312M RGS20_ENST00000517405.1_3'UTR|RGS20_ENST00000522225.1_Missense_Mutation_p.R46M|RGS20_ENST00000276500.4_Missense_Mutation_p.R165M|RGS20_ENST00000344277.6_Missense_Mutation_p.R197M NM_170587.2 NP_733466.1 O76081 RGS20_HUMAN regulator of G-protein signaling 20 312 RGS. negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|nucleus|plasma membrane GTPase activator activity|protein binding|signal transducer activity breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009) GAGAAAGCAAGGATAATCTAT 0.388000 17 87 5.01169e-05 5.10218e-05 1 1 0 SLITRK5 26050 broad.mit.edu 37 13 88329395 88329395 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr13:88329395C>T ENST00000325089.6 + 2 1971 c.1752C>T c.(1750-1752)ggC>ggT p.G584G SLITRK5_ENST00000400028.3_Silent_p.G343G NM_015567.1 NP_056382.1 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 584 LRRCT 2. integral to membrane breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4) 81 all_neural(89;0.101)|Medulloblastoma(90;0.163) TCAAAGTGGGCGTCCTAGTGG 0.522000 64 218 0 0 1 0 0 NME4 4833 broad.mit.edu 37 16 450236 450236 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:450236G>A ENST00000397722.1 + 5 722 c.248G>A c.(247-249)aGc>aAc p.S83N NME4_ENST00000382940.4_Missense_Mutation_p.S161N|NME4_ENST00000219479.2_Missense_Mutation_p.S153N|NME4_ENST00000450036.1_Missense_Mutation_p.S83N O00746 NDKM_HUMAN NME/NM23 nucleoside diphosphate kinase 4 153 CTP biosynthetic process|GTP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|UTP biosynthetic process mitochondrial inner membrane|mitochondrial intermembrane space ATP binding|metal ion binding|nucleoside diphosphate kinase activity NS(1)|lung(1)|stomach(1)|urinary_tract(1) 4 Hepatocellular(16;0.00015) ATCCACGCCAGCGACTCCGTG 0.637000 37 104 0 0 1 0 0 CD99 4267 broad.mit.edu 37 X 2644347 2644347 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chrX:2644347C>T ENST00000381192.3 + 8 590 c.408C>T c.(406-408)gtC>gtT p.V136V CD99_ENST00000482405.2_3'UTR|CD99_ENST00000381184.1_Silent_p.V136V|CD99_ENST00000381187.3_Silent_p.V120V NM_001277710.1|NM_002414.3 NP_001264639.1|NP_002405.1 P14209 CD99_HUMAN CD99 molecule 136 cell adhesion cytoplasm|integral to plasma membrane breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1) 11 CTGTCGTGGTCGCCGTGGCTG 0.562000 4 78 0 0 1 0 0 MROH6 642475 broad.mit.edu 37 8 144654310 144654310 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:144654310A>G ENST00000398882.3 - 2 596 c.340T>C c.(340-342)Ttg>Ctg p.L114L NM_001100878.1 NP_001094348.1 maestro heat-like repeat family member 6 GCCGTGTACAACGCGAGGTCG 0.657000 4 113 0 0 1 0 0 PIK3CG 5294 broad.mit.edu 37 7 106508556 106508556 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:106508556C>T ENST00000359195.3 + 2 860 c.550C>T c.(550-552)Cgc>Tgc p.R184C PIK3CG_ENST00000496166.1_Missense_Mutation_p.R184C|PIK3CG_ENST00000440650.2_Missense_Mutation_p.R184C NM_002649.2 NP_002640.2 P48736 PK3CG_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma 184 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 132 GGTGACCCCGCGCATGGCGGA 0.647000 16 83 0 0 1 0 0 TRPM2 7226 broad.mit.edu 37 21 45833830 45833830 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr21:45833830A>G ENST00000397928.1 + 20 3464 c.3019A>G c.(3019-3021)Aag>Gag p.K1007E TRPM2_ENST00000300481.9_Missense_Mutation_p.K987E|TRPM2_ENST00000300482.5_Missense_Mutation_p.K1007E|TRPM2_ENST00000397932.2_Missense_Mutation_p.K1007E|TRPM2_ENST00000498430.1_3'UTR NM_003307.3 NP_003298.1 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 1007 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 CTACAAGCCTAAGTGCCCCGA 0.612000 5 433 0 0 1 0 0 BCL3 602 broad.mit.edu 37 19 45260945 45260945 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:45260945A>G ENST00000164227.5 + 6 1100 c.856A>G c.(856-858)Aac>Gac p.N286D NM_005178.4 NP_005169.2 P20749 BCL3_HUMAN B-cell CLL/lymphoma 3 286 DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm protein binding, bridging|transcription factor binding kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 Lung NSC(12;0.000698)|all_lung(12;0.002) Ovarian(192;0.0728) CGCCGTGGAAAACAACAGCCT 0.652000 T IGH@ CLL 11 125 0 0 1 0 0 SGSM3 27352 broad.mit.edu 37 22 40804998 40804998 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr22:40804998G>A ENST00000248929.9 + 19 2153 c.1964G>A c.(1963-1965)cGc>cAc p.R655H SGSM3_ENST00000454798.2_Missense_Mutation_p.R588H NM_015705.4 NP_056520.2 Q96HU1 SGSM3_HUMAN small G protein signaling modulator 3 655 RUN. cell cycle arrest|Rap protein signal transduction cytoplasm Rab GTPase activator activity|Rab GTPase binding cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6) 19 GTGAAGCTCCGCTCACTGATC 0.612000 4 6 0 0 1 0 0 ADCY7 113 broad.mit.edu 37 16 50346906 50346906 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:50346906T>C ENST00000394697.2 + 22 3050 c.2710T>C c.(2710-2712)Tgc>Cgc p.C904R ADCY7_ENST00000254235.3_Missense_Mutation_p.C904R P51828 ADCY7_HUMAN adenylate cyclase 7 904 Guanylate cyclase 2. activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 35 all_cancers(37;0.0127) GBM - Glioblastoma multiforme(240;0.195) Bromocriptine(DB01200) AGGGCTGGAGTGCCTACGCCT 0.567000 12 61 0 0 1 0 0 HOMEZ 57594 broad.mit.edu 37 14 23745593 23745593 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:23745593T>C ENST00000357460.5 - 2 1008 c.844A>G c.(844-846)Act>Gct p.T282A HOMEZ_ENST00000431326.2_Missense_Mutation_p.T284A|HOMEZ_ENST00000561013.1_Missense_Mutation_p.T284A NM_020834.2 NP_065885.2 Q8IX15 HOMEZ_HUMAN homeobox and leucine zipper encoding 282 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(5)|lung(7) 12 all_cancers(95;5.54e-06) GBM - Glioblastoma multiforme(265;0.00643) GAAGAGGGAGTAACACTAGAT 0.527000 22 39 0 0 1 0 0 DNAH1 25981 broad.mit.edu 37 3 52417474 52417474 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:52417474G>A ENST00000420323.2 + 51 8275 c.8014G>A c.(8014-8016)Gcg>Acg p.A2672T NM_015512.4 NP_056327.4 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 2672 AAA 4 (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) TCTGTATACTGCGGACGAGCA 0.557000 14 41 0 0 1 0 0 EBF2 64641 broad.mit.edu 37 8 25718726 25718726 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:25718726C>T ENST00000520164.1 - 13 1718 c.1181G>A c.(1180-1182)cGa>cAa p.R394Q EBF2_ENST00000408929.3_Missense_Mutation_p.R246Q|EBF2_ENST00000535548.1_Missense_Mutation_p.R125Q NM_022659.3 NP_073150.2 Q9HAK2 COE2_HUMAN early B-cell factor 2 394 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 39 all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845) UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738) GTCTGCGGCTCGCTTCAAAAT 0.488000 65 100 0 0 1 0 0 PTPN3 5774 broad.mit.edu 37 9 112189315 112189315 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:112189315T>C ENST00000412145.1 - 7 3076 c.523A>G c.(523-525)Acg>Gcg p.T175A PTPN3_ENST00000374541.2_Missense_Mutation_p.T306A|PTPN3_ENST00000446349.1_Missense_Mutation_p.T175A|PTPN3_ENST00000262539.3_Missense_Mutation_p.T197A NM_001145369.1|NM_001145371.1 NP_001138841.1|NP_001138843.1 P26045 PTN3_HUMAN protein tyrosine phosphatase, non-receptor type 3 306 FERM. negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle cytoplasm|cytoskeleton|internal side of plasma membrane ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 TGAAAGAACGTATGGTGCTCA 0.443000 33 76 0 0 1 0 0 PUM1 9698 broad.mit.edu 37 1 31437751 31437751 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:31437751T>C ENST00000373747.3 - 14 2195 c.2096A>G c.(2095-2097)aAc>aGc p.N699S PUM1_ENST00000440538.2_Missense_Mutation_p.N672S|PUM1_ENST00000257075.5_Missense_Mutation_p.N698S|PUM1_ENST00000426105.2_Missense_Mutation_p.N698S|PUM1_ENST00000424085.2_Missense_Mutation_p.N456S|PUM1_ENST00000423018.2_Missense_Mutation_p.N554S|PUM1_ENST00000373741.4_Missense_Mutation_p.N734S|PUM1_ENST00000373742.2_Missense_Mutation_p.N639S NM_001020658.1 NP_001018494.1 Q14671 PUM1_HUMAN pumilio RNA-binding family member 1 698 Ser-rich. cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation cytosol RNA binding breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123) STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681) AGTGTTGGAGTTTGCAACTAA 0.483000 14 63 0 0 1 0 0 FGD6 55785 broad.mit.edu 37 12 95486519 95486519 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:95486519A>G ENST00000343958.4 - 16 3926 c.3703T>C c.(3703-3705)Ttc>Ctc p.F1235L FGD6_ENST00000546711.1_Missense_Mutation_p.F1235L NM_018351.3 NP_060821.3 Q6ZV73 FGD6_HUMAN FYVE, RhoGEF and PH domain containing 6 1235 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 GTGAGAGTGAATTCGCTTGTG 0.488000 12 50 0 0 1 0 0 SYVN1 84447 broad.mit.edu 37 11 64897199 64897199 + Splice_Site SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:64897199A>G ENST00000526060.1 - 14 1785 c.e14+1 SYVN1_ENST00000307289.6_Splice_Site|SYVN1_ENST00000377190.3_Splice_Site|SYVN1_ENST00000294256.8_Splice_Site Q86TM6 SYVN1_HUMAN synovial apoptosis inhibitor 1, synoviolin ER-associated protein catabolic process|response to stress endoplasmic reticulum membrane|integral to membrane|nucleus acid-amino acid ligase activity|protein binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 22 GTACAGACACACCCCAAGGAG 0.607000 18 63 0 0 1 0 0 ZNF442 79973 broad.mit.edu 37 19 12460905 12460905 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:12460905A>G ENST00000242804.4 - 6 2076 c.1494T>C c.(1492-1494)agT>agC p.S498S ZNF442_ENST00000438182.1_Silent_p.S429S NM_030824.2 NP_110451.1 Q9H7R0 ZN442_HUMAN zinc finger protein 442 498 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 31 ATGTGAAACAACTGAATGCTT 0.363000 9 102 0 0 1 0 0 CCRL2 9034 broad.mit.edu 37 3 46449604 46449604 + Missense_Mutation SNP T T A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:46449604T>A ENST00000399036.3 + 2 386 c.34T>A c.(34-36)Tat>Aat p.Y12N ACKR5_ENST00000400882.2_Missense_Mutation_p.Y12N|ACKR5_ENST00000400880.3_Missense_Mutation_p.Y12N|ACKR5_ENST00000357392.4_Missense_Mutation_p.Y24N NM_003965.4 NP_003956.2 AGAGGATGAATATGATGTCCT 0.532000 4 11 0 0 1 0 0 VGLL1 51442 broad.mit.edu 37 X 135618205 135618205 + Missense_Mutation SNP T T A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chrX:135618205T>A ENST00000370634.3 + 2 196 c.26T>A c.(25-27)aTc>aAc p.I9N NM_016267.3 NP_057351.1 Q99990 VGLL1_HUMAN vestigial like 1 (Drosophila) 9 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus transcription coactivator activity breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Acute lymphoblastic leukemia(192;0.000127) AAGACTGCCATCCGGCTGCCC 0.488000 7 63 0 0 1 0 0 SEMA3C 10512 broad.mit.edu 37 7 80546021 80546021 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:80546021T>C ENST00000265361.3 - 2 638 c.77A>G c.(76-78)cAa>cGa p.Q26R SEMA3C_ENST00000419255.2_Missense_Mutation_p.Q26R|SEMA3C_ENST00000487621.1_5'UTR|SEMA3C_ENST00000544525.1_Missense_Mutation_p.Q44R|SEMA3C_ENST00000536800.1_5'UTR NM_006379.3 NP_006370.1 Q99985 SEM3C_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C 26 immune response|response to drug membrane receptor activity NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 AACTCTTGCTTGGGGCTGGGA 0.343000 27 61 0 0 1 0 0 HSP90AB2P 391634 broad.mit.edu 37 4 13338636 13338636 + RNA SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:13338636A>G ENST00000602906.1 + 0 448 kidney(3)|lung(1) 4 TGGTAGGGGTACCAAAGTGAT 0.478000 23 68 0 0 1 0 0 TYW1B 441250 broad.mit.edu 37 7 72209691 72209691 + RNA SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:72209691A>G ENST00000438125.1 - 0 577 Q6NUM6 TYW1B_HUMAN tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity GAATACTCCTACTAGTATCTG 0.368000 6 5 0 0 1 0 0 UTP6 55813 broad.mit.edu 37 17 30213066 30213066 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:30213066A>G ENST00000261708.4 - 9 773 c.636T>C c.(634-636)taT>taC p.Y212Y CTC-542B22.2_ENST00000583236.1_lincRNA|UTP6_ENST00000490218.2_5'UTR NM_018428.2 NP_060898.2 Q9NYH9 UTP6_HUMAN UTP6, small subunit (SSU) processome component, homolog (yeast) 212 rRNA processing nucleolus binding breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1) 21 all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231) TTTCTTCAGAATAATCAGGAT 0.348000 20 55 0 0 1 0 0 ITGAV 3685 broad.mit.edu 37 2 187540341 187540341 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:187540341T>C ENST00000261023.3 + 27 2991 c.2717T>C c.(2716-2718)gTt>gCt p.V906A ITGAV_ENST00000374907.3_Missense_Mutation_p.V870A|ITGAV_ENST00000433736.2_Missense_Mutation_p.V860A|AC017101.10_ENST00000453665.1_RNA NM_002210.3 NP_002201.1 P06756 ITAV_HUMAN integrin, alpha V 906 angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance integrin complex receptor activity|transforming growth factor beta binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189) STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108) GGTTGTGGAGTTGCTCAGTGC 0.368000 27 92 0 0 1 0 0 GMIP 51291 broad.mit.edu 37 19 19744652 19744652 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:19744652T>C ENST00000203556.4 - 19 2569 c.2432A>G c.(2431-2433)cAc>cGc p.H811R GMIP_ENST00000445806.2_Missense_Mutation_p.H782R|GMIP_ENST00000587238.1_Missense_Mutation_p.H785R NM_016573.2 NP_057657.2 Q9P107 GMIP_HUMAN GEM interacting protein 811 Pro-rich. negative regulation of Rho GTPase activity|small GTPase mediated signal transduction cytosol metal ion binding|protein binding|Rho GTPase activator activity breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 CAGGGTACTGtggtgctgggg 0.637000 12 28 0 0 1 0 0 ZNFX1 57169 broad.mit.edu 37 20 47881256 47881256 + Missense_Mutation SNP C C G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:47881256C>G ENST00000396105.1 - 5 2394 c.2148G>C c.(2146-2148)atG>atC p.M716I ZNFX1_ENST00000371754.4_Missense_Mutation_p.M716I|ZNFX1_ENST00000371752.1_Missense_Mutation_p.M716I NM_021035.2 NP_066363.1 Q9P2E3 ZNFX1_HUMAN zinc finger, NFX1-type containing 1 716 metal ion binding cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 60 BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) GACTTACACTCATGTAGGCCC 0.537000 58 171 0 0 1 0 0 USP42 84132 broad.mit.edu 37 7 6182587 6182587 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:6182587T>C ENST00000306177.5 + 8 978 c.820T>C c.(820-822)Ttg>Ctg p.L274L NM_032172.2 NP_115548.1 Q9H9J4 UBP42_HUMAN ubiquitin specific peptidase 42 274 cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 35 Ovarian(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14) CAACAAGGCATTGGAGCAGTT 0.532000 23 68 0 0 1 0 0 ENTPD4 9583 broad.mit.edu 37 8 23292926 23292926 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:23292926T>C ENST00000358689.4 - 11 1674 c.1439A>G c.(1438-1440)cAt>cGt p.H480R ENTPD4_ENST00000521321.1_5'UTR|ENTPD4_ENST00000356206.6_Missense_Mutation_p.H472R|ENTPD4_ENST00000417069.2_Missense_Mutation_p.H472R NM_001128930.2|NM_004901.4 NP_001122402.1|NP_004892.1 Q9Y227 ENTP4_HUMAN ectonucleoside triphosphate diphosphohydrolase 4 480 UDP catabolic process autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane uridine-diphosphatase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 25 Prostate(55;0.114) Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649) GAGGTCAGCATGAGAGGCGTA 0.473000 4 70 0 0 1 0 0 FER1L6 654463 broad.mit.edu 37 8 125047642 125047642 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:125047642T>C ENST00000522917.1 + 19 2617 c.2411T>C c.(2410-2412)aTg>aCg p.M804T FER1L6_ENST00000399018.1_Missense_Mutation_p.M804T|FER1L6-AS1_ENST00000518567.1_RNA NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 804 integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) GAAGCAGAAATGTCCTCCAAA 0.552000 8 100 0 0 1 0 0 PRDM2 7799 broad.mit.edu 37 1 14107943 14107943 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:14107943T>C ENST00000235372.7 + 8 4509 c.3653T>C c.(3652-3654)gTg>gCg p.V1218A PRDM2_ENST00000311066.5_Missense_Mutation_p.V1218A|PRDM2_ENST00000343137.4_Missense_Mutation_p.V1017A|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.V1017A NM_012231.4 NP_036363.2 Q13029 PRDM2_HUMAN PR domain containing 2, with ZNF domain 1218 Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 55 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) CCAGATAAGGTGTGCACACAT 0.463000 38 136 0 0 1 0 0 ADORA2B 136 broad.mit.edu 37 17 15878301 15878301 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:15878301G>A ENST00000304222.2 + 2 976 c.644G>A c.(643-645)cGc>cAc p.R215H NM_000676.2 NP_000667.1 P29275 AA2BR_HUMAN adenosine A2b receptor 215 activation of MAPK activity|cellular defense response|excretion|JNK cascade integral to plasma membrane breast(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2) 9 UCEC - Uterine corpus endometrioid carcinoma (92;0.0855) Defibrotide(DB04932)|Enprofylline(DB00824)|Pegademase bovine(DB00061)|Theophylline(DB00277) CAGCTTCAGCGCACTGAGCTG 0.517000 27 60 0 0 1 0 0 PI16 221476 broad.mit.edu 37 6 36922666 36922666 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:36922666C>T ENST00000373674.3 + 1 458 c.130C>T c.(130-132)Cgg>Tgg p.R44W NM_001199159.1|NM_153370.2 NP_001186088.1|NP_699201.2 Q6UXB8 PI16_HUMAN peptidase inhibitor 16 44 extracellular region|integral to membrane peptidase inhibitor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 CAACCTCTACCGGGCCCAGGT 0.627000 20 38 0 0 1 0 0 CHFR 55743 broad.mit.edu 37 12 133448979 133448979 + Splice_Site SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:133448979T>C ENST00000266880.7 - 4 298 c.233_splice c.e4-1 p.T79_splice CHFR_ENST00000432561.2_Splice_Site_p.T79_splice|CHFR_ENST00000541837.2_5'UTR|CHFR_ENST00000315585.7_Splice_Site_p.T79_splice|CHFR_ENST00000450056.2_Splice_Site_p.T79_splice|CHFR_ENST00000443047.2_Splice_Site_p.T79_splice Q96EP1 CHFR_HUMAN checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase 79 FHA. cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination PML body nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;0.00552)|all_epithelial(31;0.226) OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05) GTTCCACTGGTGCTGTAAAAA 0.378000 7 104 0 0 1 0 0 PCDHGB4 8641 broad.mit.edu 37 5 140769676 140769676 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:140769676G>A ENST00000519479.1 + 1 2225 c.2225G>A c.(2224-2226)aGc>aAc p.S742N PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron NM_003736.2|NM_018925.2|NM_032098.1 NP_003727.1|NP_061748.1|NP_115269.1 endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2) 37 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCCAACTACAGCGAGGGGACT 0.512000 107 308 0 0 1 0 0 INPP5D 3635 broad.mit.edu 37 2 233995270 233995270 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:233995270G>A ENST00000359570.5 + 5 577 c.577G>A c.(577-579)Gcc>Acc p.A193T INPP5D_ENST00000474278.1_3'UTR|INPP5D_ENST00000538935.1_Missense_Mutation_p.A193T Q92835 SHIP1_HUMAN inositol polyphosphate-5-phosphatase, 145kDa 193 apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway cytosol inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding central_nervous_system(1)|ovary(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) CACTCAGCTCGCCCAGGACTC 0.453000 12 42 0 0 1 0 0 PIK3R6 146850 broad.mit.edu 37 17 8738683 8738683 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:8738683T>C ENST00000311434.9 - 8 791 c.552A>G c.(550-552)acA>acG p.T184T PIK3R6_ENST00000434064.2_5'UTR NM_001010855.2 NP_001010855.1 Q5UE93 PI3R6_HUMAN phosphoinositide-3-kinase, regulatory subunit 6 184 platelet activation cytosol AGGTCTCTGGTGTCTGCTGCG 0.647000 11 24 0 0 1 0 0 ZBTB26 57684 broad.mit.edu 37 9 125682060 125682060 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:125682060C>T ENST00000373656.3 - 2 227 c.154G>A c.(154-156)Gct>Act p.A52T ZBTB26_ENST00000373654.1_Missense_Mutation_p.A52T NM_020924.2 NP_065975.1 Q9HCK0 ZBT26_HUMAN zinc finger and BTB domain containing 26 52 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1) 11 GAACCTGCAGCAAACACAATT 0.353000 9 28 0 0 1 0 0 ANKRD26 22852 broad.mit.edu 37 10 27335415 27335415 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:27335415T>C ENST00000376087.4 - 18 2017 c.1852A>G c.(1852-1854)Act>Gct p.T618A ANKRD26_ENST00000436985.2_Missense_Mutation_p.T634A|ANKRD26_ENST00000376070.3_Missense_Mutation_p.T175A NM_001256053.1|NM_014915.2 NP_001242982.1|NP_055730.2 Q9UPS8 ANR26_HUMAN ankyrin repeat domain 26 617 centrosome breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2) 70 TCTTTTTCAGTGCTCTTTACT 0.393000 16 44 0 0 1 0 0 TRIO 7204 broad.mit.edu 37 5 14290832 14290832 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:14290832T>C ENST00000344204.4 + 5 572 c.548T>C c.(547-549)aTg>aCg p.M183T TRIO_ENST00000509967.2_Missense_Mutation_p.M134T|TRIO_ENST00000537187.1_Missense_Mutation_p.M183T NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor 183 CRAL-TRIO. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) AAGACAAATATGGTCTCTTTA 0.363000 5 31 0 0 1 0 0 KIAA2026 158358 broad.mit.edu 37 9 5969030 5969030 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:5969030G>A ENST00000399933.3 - 3 1200 c.1201C>T c.(1201-1203)Cct>Tct p.P401S KIAA2026_ENST00000381461.2_Missense_Mutation_p.P401S NM_001017969.2 NP_001017969.2 Q5HYC2 K2026_HUMAN KIAA2026 401 breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1) 46 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124) AAAAACTGAGGACACAACCCC 0.423000 10 21 0 0 1 0 0 ZNF426 79088 broad.mit.edu 37 19 9644626 9644626 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:9644626T>C ENST00000593003.1 - 3 497 c.20A>G c.(19-21)gAc>gGc p.D7G ZNF426_ENST00000535489.1_Missense_Mutation_p.D45G|ZNF426_ENST00000253115.2_Missense_Mutation_p.D45G|ZNF426_ENST00000589289.1_Missense_Mutation_p.D45G Q9BUY5 ZN426_HUMAN zinc finger protein 426 45 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 20 AGCCACATCGTCAAAGGTCAC 0.522000 11 140 0 0 1 0 0 FBXL18 80028 broad.mit.edu 37 7 5541181 5541181 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:5541181C>T ENST00000382368.3 - 3 842 c.719G>A c.(718-720)gGc>gAc p.G240D FBXL18_ENST00000453700.3_Missense_Mutation_p.G240D NM_024963.4 NP_079239.3 Q96ME1 FXL18_HUMAN F-box and leucine-rich repeat protein 18 240 FBXL18/RNF216(2) central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3) 21 Ovarian(82;0.0607) UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13) GTTGATGTAGCCGGGGGCCAG 0.652000 13 32 0 0 1 0 0 POLR3B 55703 broad.mit.edu 37 12 106850954 106850954 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:106850954A>G ENST00000228347.4 + 21 2554 c.2332A>G c.(2332-2334)Acg>Gcg p.T778A POLR3B_ENST00000539066.1_Missense_Mutation_p.T720A NM_018082.5 NP_060552.4 Q9NW08 RPC2_HUMAN polymerase (RNA) III (DNA directed) polypeptide B 778 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2) 57 TGCTAAATGTACGTTGAAACG 0.408000 41 105 0 0 1 0 0 ANP32E 81611 broad.mit.edu 37 1 150201458 150201458 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:150201458C>T ENST00000314136.8 - 4 809 c.440G>A c.(439-441)gGa>gAa p.G147E ANP32E_ENST00000369114.5_Intron|ANP32E_ENST00000369119.3_Missense_Mutation_p.G99E|ANP32E_ENST00000369115.2_Intron|ANP32E_ENST00000436748.2_Missense_Mutation_p.G106E|ANP32E_ENST00000369116.4_Intron|ANP32E_ENST00000533654.1_Intron NM_001136478.2|NM_030920.3 NP_001129950.1|NP_112182.1 Q9BTT0 AN32E_HUMAN acidic (leucine-rich) nuclear phosphoprotein 32 family, member E 147 LRRCT. cytoplasmic membrane-bounded vesicle|nucleus phosphatase inhibitor activity breast(3)|endometrium(3)|lung(7)|skin(1)|urinary_tract(1) 15 Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) CTGATCAAATCCATCTAAGTA 0.378000 24 78 0 0 1 0 0 PCDHGA3 56112 broad.mit.edu 37 5 140724107 140724107 + Missense_Mutation SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:140724107C>A ENST00000253812.6 + 1 507 c.507C>A c.(505-507)aaC>aaA p.N169K PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018916.3|NM_032011.1 NP_061739.2|NP_114400.1 p.N169K(1) breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCCTGCAGAACTACAAGCTTA 0.493000 41 151 1.7489e-18 1.84115e-18 1 1 0 CNOT11 55571 broad.mit.edu 37 2 101883179 101883179 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:101883179A>G ENST00000289382.3 + 5 1239 c.1076A>G c.(1075-1077)cAt>cGt p.H359R NM_017546.4 NP_060016.3 CCR4-NOT transcription complex, subunit 11 CTTGTCTACCATATTGGCCTC 0.423000 6 175 0 0 1 0 0 ANKRD35 148741 broad.mit.edu 37 1 145558913 145558913 + Nonsense_Mutation SNP C C T rs151076205 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:145558913C>T ENST00000355594.4 + 7 619 c.532C>T c.(532-534)Cga>Tga p.R178* ANKRD35_ENST00000544626.1_3'UTR NM_144698.3 NP_653299.3 Q8N283 ANR35_HUMAN ankyrin repeat domain 35 178 NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1) 47 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GCGAGGCGCCCGAGTTAATGT 0.552000 35 141 0 0 1 0 0 GRIK2 2898 broad.mit.edu 37 6 102074490 102074490 + Silent SNP G G A rs147153195 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:102074490G>A ENST00000369138.1 + 3 1009 c.519G>A c.(517-519)acG>acA p.T173T GRIK2_ENST00000369134.4_Silent_p.T124T|GRIK2_ENST00000413795.1_Silent_p.T173T|GRIK2_ENST00000421544.1_Silent_p.T173T|GRIK2_ENST00000358361.3_Silent_p.T173T|GRIK2_ENST00000318991.6_Silent_p.T173T|GRIK2_ENST00000369137.3_Silent_p.T173T NM_001166247.1 NP_001159719.1 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 173 glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) AAACCGTCACGGTTGTGTATG 0.398000 13 59 0 0 1 0 0 ZBTB40 9923 broad.mit.edu 37 1 22843857 22843857 + Silent SNP C C T rs148077022 by1000genomes TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:22843857C>T ENST00000404138.1 + 14 3244 c.2733C>T c.(2731-2733)caC>caT p.H911H ZBTB40_ENST00000375647.4_Silent_p.H911H|ZBTB40_ENST00000374651.4_Silent_p.H799H NM_001083621.1 NP_001077090.1 Q9NUA8 ZBT40_HUMAN zinc finger and BTB domain containing 40 911 bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) TGTCCCGCCACGTGAGGACCC 0.532000 38 104 0 0 1 0 0 PROCR 10544 broad.mit.edu 37 20 33764535 33764535 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:33764535C>T ENST00000216968.4 + 4 718 c.636C>T c.(634-636)gtC>gtT p.V212V EDEM2_ENST00000540582.1_Intron NM_006404.3 NP_006395.2 Q9UNN8 EPCR_HUMAN protein C receptor, endothelial 212 antigen processing and presentation|blood coagulation|immune response integral to plasma membrane|MHC class I protein complex receptor activity breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 10 BRCA - Breast invasive adenocarcinoma(18;0.0152) Drotrecogin alfa(DB00055) CTTCGCTGGTCCTGGGCGTCC 0.547000 13 25 0 0 1 0 0 C7orf10 79783 broad.mit.edu 37 7 40228095 40228095 + Splice_Site SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:40228095A>G ENST00000309930.5 + 4 273 c.247_splice c.e4-1 p.G83_splice C7orf10_ENST00000335693.4_Splice_Site_p.G83_splice|C7orf10_ENST00000540834.1_Splice_Site_p.G76_splice|C7orf10_ENST00000401647.2_Splice_Site_p.G83_splice NM_001193311.1|NM_024728.2 NP_001180240.1|NP_079004.1 Q9HAC7 CG010_HUMAN chromosome 7 open reading frame 10 83 transferase activity endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2) 18 TATTTTCAGGAGCTGGTGATG 0.378000 9 22 0 0 1 0 0 MAP4K1 11184 broad.mit.edu 37 19 39087709 39087709 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:39087709A>G ENST00000591517.1 - 25 1934 c.1906T>C c.(1906-1908)Tgg>Cgg p.W636R MAP4K1_ENST00000586296.1_Intron|MAP4K1_ENST00000396857.2_Missense_Mutation_p.W636R|MAP4K1_ENST00000589130.1_Missense_Mutation_p.W632R|CTB-186G2.1_ENST00000589557.1_RNA NM_007181.4 NP_009112.1 Q92918 M4K1_HUMAN mitogen-activated protein kinase kinase kinase kinase 1 636 CNH. activation of JUN kinase activity|peptidyl-serine phosphorylation ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 44 all_cancers(60;6.42e-06)|Ovarian(47;0.103) Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272) GGCTGGTACCACTGAAGCAGG 0.597000 37 105 0 0 1 0 0 TYK2 7297 broad.mit.edu 37 19 10478977 10478977 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:10478977C>T ENST00000525621.1 - 4 792 c.311G>A c.(310-312)cGc>cAc p.R104H TYK2_ENST00000524462.1_Intron|TYK2_ENST00000529370.1_Missense_Mutation_p.R104H|TYK2_ENST00000264818.6_Missense_Mutation_p.R104H NM_003331.4 NP_003322.3 P29597 TYK2_HUMAN tyrosine kinase 2 104 FERM. intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytoskeleton|cytosol|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity p.R104L(1) breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06) CCACCTTATGCGGAAATATAG 0.552000 5 238 0 0 1 0 0 KIAA0391 9692 broad.mit.edu 37 14 35742694 35742694 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:35742694A>G ENST00000557565.1 + 8 2055 c.1674A>G c.(1672-1674)atA>atG p.I558M KIAA0391_ENST00000604948.1_Missense_Mutation_p.I463M|KIAA0391_ENST00000534898.4_Missense_Mutation_p.I558M|KIAA0391_ENST00000605870.1_Missense_Mutation_p.I186M|KIAA0391_ENST00000603544.1_Missense_Mutation_p.I542M|KIAA0391_ENST00000250377.7_Missense_Mutation_p.I463M|KIAA0391_ENST00000321130.10_Missense_Mutation_p.I542M O15091 MRRP3_HUMAN KIAA0391 558 tRNA processing mitochondrion central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 14 Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184) Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277) GBM - Glioblastoma multiforme(112;0.0593) CGTGGCACATACCATATGATG 0.408000 12 43 0 0 1 0 0 DENND4A 10260 broad.mit.edu 37 15 65983808 65983808 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:65983808T>C ENST00000443035.3 - 23 3336 c.3121A>G c.(3121-3123)Aca>Gca p.T1041A DENND4A_ENST00000431932.2_Missense_Mutation_p.T998A NM_001144823.1 NP_001138295.1 Q7Z401 MYCPP_HUMAN DENN/MADD domain containing 4A 998 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 GTTTCATTTGTATCTTCAAGA 0.338000 5 16 0 0 1 0 0 ZFP64 55734 broad.mit.edu 37 20 50769809 50769809 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:50769809T>C ENST00000216923.4 - 6 1271 c.922A>G c.(922-924)Atc>Gtc p.I308V ZFP64_ENST00000346617.4_Missense_Mutation_p.I254V|ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000371515.4_Missense_Mutation_p.I306V|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000371518.2_Intron NM_018197.2|NM_199426.1 NP_060667.2|NP_955458.1 Q9NPA5 ZF64A_HUMAN ZFP64 zinc finger protein 308 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 33 CTGTGCTTGATACGGATGTGC 0.572000 29 82 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158637733 158637733 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:158637733A>G ENST00000368148.3 - 15 2133 c.1953T>C c.(1951-1953)ggT>ggC p.G651G SPTA1_ENST00000368147.3_Silent_p.G651G NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 651 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) AGGCATAGTGACCACCCTCAA 0.473000 24 97 0 0 1 0 0 RUNX2 860 broad.mit.edu 37 6 45390427 45390427 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:45390427G>A ENST00000371438.1 + 2 514 c.156G>A c.(154-156)caG>caA p.Q52Q RUNX2_ENST00000541979.1_Silent_p.Q120Q|RUNX2_ENST00000371436.6_Silent_p.Q52Q|RUNX2_ENST00000465038.2_Silent_p.Q52Q|RUNX2_ENST00000359524.5_Silent_p.Q38Q|RUNX2_ENST00000576263.1_Silent_p.Q52Q|RUNX2_ENST00000371432.3_Silent_p.Q38Q|RUNX2_ENST00000352853.5_Silent_p.Q120Q NM_001024630.3 NP_001019801.3 Q13950 RUNX2_HUMAN runt-related transcription factor 2 52 Poly-Gln. negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 aacagcagcagcaacagcagc 0.716000 26 74 0 0 1 0 0 UCN3 114131 broad.mit.edu 37 10 5415734 5415734 + Silent SNP C C G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:5415734C>G ENST00000380433.3 + 2 279 c.51C>G c.(49-51)ggC>ggG p.G17G NM_053049.2 NP_444277.2 Q969E3 UCN3_HUMAN urocortin 3 17 extracellular region hormone activity endometrium(1)|large_intestine(1) 2 TCCTGGGGGGCCCCAGGACAG 0.637000 5 87 0 0 1 0 0 KRI1 65095 broad.mit.edu 37 19 10670071 10670071 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:10670071G>A ENST00000312962.6 - 12 1195 c.1176C>T c.(1174-1176)gaC>gaT p.D392D KRI1_ENST00000361821.5_Silent_p.D388D NM_023008.3 NP_075384.3 Q8N9T8 KRI1_HUMAN KRI1 homolog (S. cerevisiae) 392 Glu-rich. NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 26 Epithelial(33;9.2e-06)|all cancers(31;3.9e-05) GGTCGAAGTCGTCTTCAAGGT 0.587000 24 60 0 0 1 0 0 DTX2 113878 broad.mit.edu 37 7 76112069 76112069 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:76112069C>T ENST00000324432.5 + 5 1023 c.513C>T c.(511-513)agC>agT p.S171S DTX2_ENST00000307569.8_Silent_p.S171S|DTX2_ENST00000413936.2_Silent_p.S171S|DTX2_ENST00000446600.1_Silent_p.S80S|DTX2_ENST00000446820.2_Silent_p.S171S|DTX2_ENST00000430490.2_Silent_p.S171S NM_020892.2 NP_065943.2 Q86UW9 DTX2_HUMAN deltex homolog 2 (Drosophila) 171 WWE 2. Notch signaling pathway cytoplasm|nucleus protein binding|zinc ion binding p.S171S(1) NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2) 27 TCTGCCGCAGCGTGCGGCGCC 0.652000 23 52 0 0 1 0 0 ATP6V1B2 526 broad.mit.edu 37 8 20073950 20073950 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:20073950A>G ENST00000276390.2 + 11 1145 c.1105A>G c.(1105-1107)Act>Gct p.T369A NM_001693.3 NP_001684.2 P21281 VATB2_HUMAN ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2 369 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|endomembrane system|Golgi apparatus|melanosome|plasma membrane|proton-transporting V-type ATPase, V1 domain ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism endometrium(1)|kidney(2)|lung(5)|prostate(1) 9 Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211) CCCAGACTTGACTGGCTACAT 0.498000 11 86 0 0 1 0 0 MPP1 4354 broad.mit.edu 37 X 154014572 154014572 + Missense_Mutation SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chrX:154014572A>T ENST00000413259.3 - 7 886 c.494T>A c.(493-495)aTc>aAc p.I165N MPP1_ENST00000393531.1_Missense_Mutation_p.I175N|MPP1_ENST00000369534.3_Missense_Mutation_p.I195N|MPP1_ENST00000462825.1_5'UTR NM_001166462.1 NP_001159934.1 Q00013 EM55_HUMAN membrane protein, palmitoylated 1, 55kDa 195 SH3. regulation of neutrophil chemotaxis|signal transduction integral to plasma membrane|membrane fraction|stereocilium guanylate kinase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1) 21 all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) ATCCTTGTTGATAATCTGGAT 0.517000 9 371 0 0 1 0 0 CHD4 1108 broad.mit.edu 37 12 6680033 6680033 + Splice_Site SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:6680033A>G ENST00000309577.6 - 38 5969 c.e38+1 CHD4_ENST00000544040.1_Splice_Site|CHD4_ENST00000544484.1_Splice_Site|CHD4_ENST00000357008.2_Splice_Site Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 AAATGGTCCTACCTGCTGTGG 0.527000 57 228 0 0 1 0 0 CHRNG 1146 broad.mit.edu 37 2 233406216 233406216 + Nonsense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:233406216G>A ENST00000389494.3 + 5 504 c.483G>A c.(481-483)tgG>tgA p.W161* CHRNG_ENST00000389492.3_Intron NM_005199.4 NP_005190.4 P07510 ACHG_HUMAN cholinergic receptor, nicotinic, gamma (muscle) 161 muscle contraction cell junction|postsynaptic membrane acetylcholine receptor activity breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1) 22 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086) CCTTCGACTGGCAGAACTGCT 0.582000 6 181 0 0 1 0 0 ALDH3A1 218 broad.mit.edu 37 17 19645443 19645443 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:19645443C>T ENST00000457500.2 - 4 892 c.563G>A c.(562-564)gGc>gAc p.G188D ALDH3A1_ENST00000395555.3_Missense_Mutation_p.G188D|ALDH3A1_ENST00000225740.6_Missense_Mutation_p.G188D|ALDH3A1_ENST00000444455.1_Missense_Mutation_p.G188D|ALDH3A1_ENST00000494157.2_Missense_Mutation_p.G115D NM_001135168.1 NP_001128640.1 P30838 AL3A1_HUMAN aldehyde dehydrogenase 3 family, member A1 188 cellular aldehyde metabolic process cytosol|endoplasmic reticulum alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1) 13 all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186) Colorectal(15;0.0829) NADH(DB00157) CCCCGTGCTGCCCGTGTACAG 0.587000 36 67 0 0 1 0 0 SERTAD3 29946 broad.mit.edu 37 19 40947495 40947495 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:40947495G>A ENST00000322354.3 - 2 989 c.493C>T c.(493-495)Cgg>Tgg p.R165W SERTAD3_ENST00000392028.4_Missense_Mutation_p.R165W NM_203344.2 NP_976219.1 Q9UJW9 SRTD3_HUMAN SERTA domain containing 3 165 negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding kidney(1)|large_intestine(4)|lung(2) 7 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) GGTGGGGCCCGTGCAGGCTCC 0.527000 60 142 0 0 1 0 0 ZNF37A 7587 broad.mit.edu 37 10 38406835 38406835 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:38406835C>T ENST00000351773.3 + 8 1586 c.756C>T c.(754-756)ttC>ttT p.F252F ZNF37A_ENST00000361085.4_Silent_p.F252F NM_001007094.2 NP_001007095.1 P17032 ZN37A_HUMAN zinc finger protein 37A 252 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1) 28 GAACATTTTTCAGTGAAAAAT 0.358000 4 109 0 0 1 0 0 FAM118A 55007 broad.mit.edu 37 22 45719118 45719118 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr22:45719118G>A ENST00000216214.3 + 4 944 c.110G>A c.(109-111)gGc>gAc p.G37D FAM118A_ENST00000441876.2_Missense_Mutation_p.G37D|FAM118A_ENST00000405673.1_Missense_Mutation_p.G37D NM_001104595.1 NP_001098065.1 Q9NWS6 F118A_HUMAN family with sequence similarity 118, member A 37 integral to membrane endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1) 11 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178) ATCGGGACTGGCGTCAGCGCA 0.552000 32 70 0 0 1 0 0 COL14A1 7373 broad.mit.edu 37 8 121219311 121219311 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:121219311C>T ENST00000297848.3 + 10 1439 c.1169C>T c.(1168-1170)aCc>aTc p.T390I COL14A1_ENST00000537875.1_Missense_Mutation_p.T390I|COL14A1_ENST00000247781.3_Missense_Mutation_p.T295I|COL14A1_ENST00000309791.4_Missense_Mutation_p.T390I|COL14A1_ENST00000432943.2_3'UTR NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 390 Fibronectin type-III 2. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) TATTATCCTACCAGGGGTGGA 0.398000 9 44 0 0 1 0 0 SERPINB9 5272 broad.mit.edu 37 6 2890411 2890411 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:2890411A>G ENST00000380698.4 - 7 1206 c.1117T>C c.(1117-1119)Ttc>Ctc p.F373L NM_004155.5 NP_004146.1 P50453 SPB9_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 9 373 anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis cytosol|extracellular space|nucleus caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1) 15 Ovarian(93;0.0412) all_hematologic(90;0.108) GGCGATGAGAACCTGCCACAG 0.537000 10 49 0 0 1 0 0 EXOC3 11336 broad.mit.edu 37 5 466859 466859 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:466859C>T ENST00000512944.1 + 13 2273 c.2084C>T c.(2083-2085)gCg>gTg p.A695V EXOC3_ENST00000315013.5_Missense_Mutation_p.A695V|CTD-2228K2.5_ENST00000510714.1_Intron NM_007277.4 NP_009208.2 O60645 EXOC3_HUMAN exocyst complex component 3 706 exocytosis|protein transport breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1) 23 Ovarian(839;0.0563) Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) CACATCGGTGCGCTGCTGGCT 0.657000 21 50 0 0 1 0 0 HTT 3064 broad.mit.edu 37 4 3240680 3240680 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:3240680T>C ENST00000355072.5 + 66 9335 c.9190T>C c.(9190-9192)Tcc>Ccc p.S3064P NM_002111.6 NP_002102.4 P42858 HD_HUMAN huntingtin 3064 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 87 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) TGTCAGCGCGTCCACCAGCCC 0.617000 7 22 0 0 1 0 0 CRB2 286204 broad.mit.edu 37 9 126133465 126133465 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:126133465G>A ENST00000373631.3 + 8 2045 c.2044G>A c.(2044-2046)Gct>Act p.A682T CRB2_ENST00000359999.3_Missense_Mutation_p.A682T|CRB2_ENST00000373629.2_Missense_Mutation_p.A350T NM_173689.5 NP_775960.4 Q5IJ48 CRUM2_HUMAN crumbs homolog 2 (Drosophila) 682 Laminin G-like 2. extracellular region|integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3) 23 TCGGGAGTCCGCTGGCCTGTT 0.612000 72 231 0 0 1 0 0 SLC39A3 29985 broad.mit.edu 37 19 2737027 2737027 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:2737027G>A ENST00000455372.2 - 2 434 c.229C>T c.(229-231)Cta>Tta p.L77L SLC39A3_ENST00000545664.1_Intron|SLC39A3_ENST00000269740.4_Intron|AC006538.4_ENST00000586572.1_Intron NM_213568.1 NP_998733.1 Q9BRY0 S39A3_HUMAN solute carrier family 39 (zinc transporter), member 3 0 integral to membrane|plasma membrane zinc ion transmembrane transporter activity endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 10 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) GCTGCTGCTAGTGCCCAGGGA 0.557000 15 27 0 0 1 0 0 MAN2B2 23324 broad.mit.edu 37 4 6611559 6611559 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:6611559C>T ENST00000285599.3 + 13 2077 c.2041C>T c.(2041-2043)Cgc>Tgc p.R681C MAN2B2_ENST00000504248.1_Missense_Mutation_p.R630C|MAN2B2_ENST00000504960.1_3'UTR NM_015274.1 NP_056089.1 Q9Y2E5 MA2B2_HUMAN mannosidase, alpha, class 2B, member 2 681 mannose metabolic process extracellular region alpha-mannosidase activity|carbohydrate binding|zinc ion binding breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1) 30 GTATGCAATCCGCTCCCGGCT 0.572000 25 88 0 0 1 0 0 GPC2 221914 broad.mit.edu 37 7 99769416 99769416 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:99769416T>C ENST00000292377.2 - 7 1323 c.1156A>G c.(1156-1158)Aac>Gac p.N386D GPC2_ENST00000471050.1_5'UTR NM_152742.1 NP_689955.1 Q8N158 GPC2_HUMAN glypican 2 386 anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3) 18 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CGGTGCAGGTTGGTGCCTGCG 0.771000 7 10 0 0 1 0 0 WNK4 65266 broad.mit.edu 37 17 40936504 40936504 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:40936504C>T ENST00000246914.5 + 4 1098 c.1077C>T c.(1075-1077)taC>taT p.Y359Y NM_032387.4 NP_115763.2 Q96J92 WNK4_HUMAN WNK lysine deficient protein kinase 4 359 Protein kinase. intracellular protein kinase cascade tight junction ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1) 35 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.0749) TGGACGTGTACGCGTTCGGCA 0.587000 14 34 0 0 1 0 0 SEPT5 5413 broad.mit.edu 37 22 19709193 19709193 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr22:19709193A>G ENST00000438754.2 + 8 1055 c.775A>G c.(775-777)Aac>Gac p.N259D SEPT5_ENST00000406395.1_Missense_Mutation_p.N250D|SEPT5_ENST00000383045.3_Missense_Mutation_p.N259D|SEPT5_ENST00000455784.2_Missense_Mutation_p.N250D NM_001009939.2 NP_001009939.1 Q99719 SEPT5_HUMAN septin 5 250 cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting plasma membrane|septin complex|synaptic vesicle GTP binding|GTPase activity|protein binding|structural molecule activity lung(1)|upper_aerodigestive_tract(1) 2 Colorectal(54;0.0993) TATAGGCAGCAACACGGTGGT 0.642000 7 117 0 0 1 0 0 GDF10 2662 broad.mit.edu 37 10 48429034 48429034 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:48429034C>T ENST00000224605.2 - 2 1117 c.852G>A c.(850-852)gcG>gcA p.A284A NM_004962.3 NP_004953.1 P55107 BMP3B_HUMAN growth differentiation factor 10 284 growth|skeletal system development|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1) 31 CGCGGGGGTCCGCTGAGTTGT 0.726000 9 23 0 0 1 0 0 SCLY 51540 broad.mit.edu 37 2 238990440 238990440 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:238990440C>T ENST00000254663.6 + 5 741 c.599C>T c.(598-600)aCc>aTc p.T200I SCLY_ENST00000409736.2_Missense_Mutation_p.T192I|SCLY_ENST00000422984.2_Missense_Mutation_p.T98I|SCLY_ENST00000373332.3_Missense_Mutation_p.T110I|SCLY_ENST00000555827.1_Missense_Mutation_p.T192I|SCLY_ENST00000429612.2_Intron NM_016510.5 NP_057594.4 Q96I15 SCLY_HUMAN selenocysteine lyase 192 cellular amino acid metabolic process cytosol pyridoxal phosphate binding|selenocysteine lyase activity|transferase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1) 22 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285) CGCCTCGTGACCATCATGCTG 0.572000 21 61 0 0 1 0 0 SP4 6671 broad.mit.edu 37 7 21521706 21521706 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:21521706G>A ENST00000222584.3 + 5 2290 c.2072G>A c.(2071-2073)aGt>aAt p.S691N NM_003112.3 NP_003103.2 Q02446 SP4_HUMAN Sp4 transcription factor 691 regulation of transcription from RNA polymerase II promoter nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 35 TTCACACGGAGTGATGAGCTC 0.368000 6 150 0 0 1 0 0 MITF 4286 broad.mit.edu 37 3 69987103 69987103 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:69987103A>G ENST00000352241.4 + 3 648 c.485A>G c.(484-486)aAc>aGc p.N162S MITF_ENST00000394351.3_Missense_Mutation_p.N55S|MITF_ENST00000472437.1_Missense_Mutation_p.N110S|MITF_ENST00000394348.1_3'UTR|MITF_ENST00000314589.5_Missense_Mutation_p.N146S|MITF_ENST00000531774.1_Intron|MITF_ENST00000314557.6_Missense_Mutation_p.N55S|MITF_ENST00000328528.6_Missense_Mutation_p.N161S|MITF_ENST00000448226.2_Missense_Mutation_p.N162S|MITF_ENST00000394355.2_Missense_Mutation_p.N137S NM_198159.2 NP_937802.1 O75030 MITF_HUMAN microphthalmia-associated transcription factor 162 melanocyte differentiation|multicellular organismal development|protein complex assembly nucleus|protein complex DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2) 30 Lung NSC(201;0.0384)|Prostate(884;0.0526) BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239) CCATGTCCAAACCAGCCTGGC 0.522000 A melanoma """Waardenburg syndrome type 2, Tietz syndrome""" 21 76 0 0 1 0 0 OR4K1 79544 broad.mit.edu 37 14 20403872 20403872 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:20403872G>A ENST00000285600.4 + 1 106 c.47G>A c.(46-48)gGa>gAa p.G16E NM_001004063.2 NP_001004063.2 Q8NGD4 OR4K1_HUMAN olfactory receptor, family 4, subfamily K, member 1 16 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00124) GTACTTTTGGGACTCTCTAAT 0.343000 60 452 0 0 1 0 0 NCOA4 8031 broad.mit.edu 37 10 51579242 51579242 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:51579242T>C ENST00000452682.1 + 3 401 c.149T>C c.(148-150)gTt>gCt p.V50A NCOA4_ENST00000438493.1_Missense_Mutation_p.V50A|NCOA4_ENST00000430396.2_Intron|NCOA4_ENST00000414907.2_Intron|NCOA4_ENST00000344348.6_Missense_Mutation_p.V34A|NCOA4_ENST00000443446.1_Missense_Mutation_p.V34A|NCOA4_ENST00000374082.1_Missense_Mutation_p.V34A|NCOA4_ENST00000498586.1_Intron|NCOA4_ENST00000374087.4_Missense_Mutation_p.V34A NM_001145260.1 NP_001138732.1 Q13772 NCOA4_HUMAN nuclear receptor coactivator 4 34 androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus androgen receptor binding|transcription coactivator activity NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1) 5 ATTGGTGGAGTTCTCCGGGCT 0.478000 T RET papillary thyroid 49 163 0 0 1 0 0 TMEM66 51669 broad.mit.edu 37 8 29927269 29927269 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:29927269C>T ENST00000256255.6 - 3 846 c.589G>A c.(589-591)Ggg>Agg p.G197R TMEM66_ENST00000536273.1_Missense_Mutation_p.G25R|TMEM66_ENST00000545648.1_Missense_Mutation_p.G25R NM_016127.4 NP_057211.4 Q96BY9 TMM66_HUMAN transmembrane protein 66 197 integral to membrane endometrium(2)|large_intestine(1)|lung(11) 14 KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119) GAATACTGCCCGTCACTCAGG 0.502000 59 99 0 0 1 0 0 SUSD5 26032 broad.mit.edu 37 3 33195265 33195265 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:33195265G>A ENST00000309558.3 - 5 1276 c.859C>T c.(859-861)Cgg>Tgg p.R287W NM_015551.1 NP_056366.1 O60279 SUSD5_HUMAN sushi domain containing 5 287 cell adhesion integral to membrane hyaluronic acid binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 TGGAGCAGCCGTGATCCTGGT 0.532000 23 49 0 0 1 0 0 USP36 57602 broad.mit.edu 37 17 76803168 76803168 + Missense_Mutation SNP G G A rs143765903 byFrequency TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:76803168G>A ENST00000312010.6 - 14 2282 c.1958C>T c.(1957-1959)aCg>aTg p.T653M USP36_ENST00000449938.2_Missense_Mutation_p.T353M|USP36_ENST00000542802.2_Missense_Mutation_p.T653M NM_025090.3 NP_079366.3 Q9P275 UBP36_HUMAN ubiquitin specific peptidase 36 653 ubiquitin-dependent protein catabolic process nucleolus cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 34 BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151) ACTTGGCGGCGTTTTGGAGTG 0.607000 23 61 0 0 1 0 0 BANK1 55024 broad.mit.edu 37 4 102981475 102981475 + Missense_Mutation SNP T T A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:102981475T>A ENST00000504592.1 + 16 2450 c.2032T>A c.(2032-2034)Tct>Act p.S678T BANK1_ENST00000322953.4_Missense_Mutation_p.S693T|BANK1_ENST00000428908.1_Missense_Mutation_p.S560T|BANK1_ENST00000508653.1_Missense_Mutation_p.S560T|BANK1_ENST00000444316.2_Missense_Mutation_p.S663T Q8NDB2 BANK1_HUMAN B-cell scaffold protein with ankyrin repeats 1 693 B cell activation NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1) 44 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;2.7e-07) TGGGAAAATGTCTATGGATGA 0.453000 26 84 0 0 1 0 0 SNX20 124460 broad.mit.edu 37 16 50707482 50707482 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:50707482G>A ENST00000330943.4 - 4 957 c.786C>T c.(784-786)ggC>ggT p.G262G SNX20_ENST00000423026.2_Intron|SNX20_ENST00000300590.3_Intron NM_182854.2 NP_878274.1 Q7Z614 SNX20_HUMAN sorting nexin 20 262 cell communication|protein transport endosome membrane|nucleus|plasma membrane phosphatidylinositol binding|protein binding kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1) 15 AGTAGCGATGGCCCTCCCGGG 0.721000 14 45 0 0 1 0 0 ATP2B1 490 broad.mit.edu 37 12 90028906 90028906 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:90028906T>C ENST00000428670.3 - 4 985 c.529A>G c.(529-531)Aag>Gag p.K177E ATP2B1_ENST00000348959.3_Missense_Mutation_p.K177E|ATP2B1_ENST00000359142.3_Missense_Mutation_p.K177E|ATP2B1_ENST00000261173.2_Missense_Mutation_p.K177E P20020 AT2B1_HUMAN ATPase, Ca++ transporting, plasma membrane 1 177 ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 45 TGTTTTTCCTTACTCCAGTCA 0.448000 34 137 0 0 1 0 0 ECI1 1632 broad.mit.edu 37 16 2290114 2290114 + Nonsense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:2290114G>A ENST00000301729.4 - 7 822 c.775C>T c.(775-777)Cga>Tga p.R259* ECI1_ENST00000562238.1_Nonsense_Mutation_p.R242*|ECI1_ENST00000570258.1_Nonsense_Mutation_p.R200* NM_001919.3 NP_001910.2 P42126 ECI1_HUMAN enoyl-CoA delta isomerase 1 259 fatty acid beta-oxidation mitochondrial matrix dodecenoyl-CoA delta-isomerase activity endometrium(1)|large_intestine(2)|lung(6) 9 GTGGCCTTTCGCATCATGGCC 0.557000 17 36 0 0 1 0 0 TBC1D16 125058 broad.mit.edu 37 17 77984303 77984303 + Silent SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:77984303G>T ENST00000310924.2 - 3 550 c.435C>A c.(433-435)gcC>gcA p.A145A NM_001271844.1|NM_001271845.1|NM_019020.2 NP_001258773.1|NP_001258774.1|NP_061893.2 Q8TBP0 TBC16_HUMAN TBC1 domain family, member 16 145 intracellular Rab GTPase activator activity NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3) 28 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819) GAACACTCTGGGCCACCACCA 0.701000 13 15 0.00185496 0.00187323 1 1 0 PCM1 5108 broad.mit.edu 37 8 17814832 17814832 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:17814832T>C ENST00000325083.8 + 12 2145 c.1706T>C c.(1705-1707)gTt>gCt p.V569A PCM1_ENST00000519253.1_Missense_Mutation_p.V569A|PCM1_ENST00000524226.1_Missense_Mutation_p.V569A NM_006197.3 NP_006188.3 Q15154 PCM1_HUMAN pericentriolar material 1 569 centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome centriolar satellite|cytosol|nuclear membrane|pericentriolar material identical protein binding PCM1/JAK2(30) breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 48 Colorectal(111;0.0789) GCACAGTGTGTTTCTAATAAT 0.368000 T """RET, JAK2""" """papillary thyroid, CML, MPD""" 13 170 0 0 1 0 0 TBC1D24 57465 broad.mit.edu 37 16 2547000 2547000 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:2547000A>G ENST00000567020.1 + 2 991 c.851A>G c.(850-852)aAg>aGg p.K284R TBC1D24_ENST00000434757.2_Missense_Mutation_p.K284R|TBC1D24_ENST00000293970.5_Missense_Mutation_p.K284R|RP11-20I23.1_ENST00000564543.1_Missense_Mutation_p.K284R NM_020705.2 NP_065756.1 Q9ULP9 TBC24_HUMAN TBC1 domain family, member 24 284 neuron projection development cytoplasm protein binding|Rab GTPase activator activity endometrium(2)|kidney(4)|large_intestine(3)|lung(4) 13 TCCCCTGAGAAGCTGCTGGAG 0.607000 26 96 0 0 1 0 0 ADCY7 113 broad.mit.edu 37 16 50332907 50332907 + Nonsense_Mutation SNP C C A rs142241553 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:50332907C>A ENST00000394697.2 + 8 1381 c.1041C>A c.(1039-1041)tgC>tgA p.C347* ADCY7_ENST00000537579.1_Nonsense_Mutation_p.C347*|ADCY7_ENST00000254235.3_Nonsense_Mutation_p.C347*|ADCY7_ENST00000538642.1_Nonsense_Mutation_p.C347*|ADCY7_ENST00000566433.2_Nonsense_Mutation_p.C347*|ADCY7_ENST00000564044.1_3'UTR P51828 ADCY7_HUMAN adenylate cyclase 7 347 Guanylate cyclase 1. activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 35 all_cancers(37;0.0127) GBM - Glioblastoma multiforme(240;0.195) Bromocriptine(DB01200) CCCGGAACTGCGTGAAGATGG 0.657000 24 63 1.75199e-13 1.82818e-13 1 1 0 ZNF777 27153 broad.mit.edu 37 7 149152363 149152363 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:149152363G>A ENST00000247930.4 - 2 1074 c.751C>T c.(751-753)Ctg>Ttg p.L251L NM_015694.2 NP_056509.2 Q9ULD5 ZN777_HUMAN zinc finger protein 777 251 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1) 26 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) CGCCTCTGCAGCAGCCCATAC 0.567000 17 186 0 0 1 0 0 PIK3R2 5296 broad.mit.edu 37 19 18271310 18271310 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:18271310T>C ENST00000593731.1 + 3 912 c.352T>C c.(352-354)Ttc>Ctc p.F118L PIK3R2_ENST00000222254.7_Missense_Mutation_p.F118L O00459 P85B_HUMAN phosphoinositide-3-kinase, regulatory subunit 2 (beta) 118 Rho-GAP. fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway phosphatidylinositol 3-kinase complex GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1) 24 GCCCGAGCAGTTCTCCCCACC 0.612000 18 51 0 0 1 0 0 GCN1L1 10985 broad.mit.edu 37 12 120582208 120582208 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:120582208G>A ENST00000300648.6 - 42 5409 c.5397C>T c.(5395-5397)cgC>cgT p.R1799R NM_006836.1 NP_006827.1 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1-like 1 (yeast) 1799 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GCTGGCCCGCGCGCAGGGCGG 0.622000 24 56 0 0 1 0 0 FBXO39 162517 broad.mit.edu 37 17 6683941 6683941 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:6683941C>T ENST00000321535.4 + 2 884 c.754C>T c.(754-756)Cgg>Tgg p.R252W NM_153230.2 NP_694962.1 Q8N4B4 FBX39_HUMAN F-box protein 39 252 NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 26 CAGCACCCTCCGGACCATCAA 0.542000 32 99 0 0 1 0 0 AGBL1 123624 broad.mit.edu 37 15 86697774 86697774 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:86697774C>T ENST00000441037.2 + 3 333 c.238C>T c.(238-240)Cgt>Tgt p.R80C AGBL1_ENST00000421325.2_Missense_Mutation_p.R80C NM_152336.2 NP_689549.2 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 80 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 62 CTGGGCTCTGCGTGTGTTTGC 0.537000 8 27 0 0 1 0 0 ANK1 286 broad.mit.edu 37 8 41552141 41552141 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:41552141G>A ENST00000396942.1 - 28 3379 c.3296C>T c.(3295-3297)gCc>gTc p.A1099V ANK1_ENST00000347528.4_Missense_Mutation_p.A1099V|ANK1_ENST00000396945.1_Missense_Mutation_p.A1099V|ANK1_ENST00000352337.4_Missense_Mutation_p.A1099V|ANK1_ENST00000265709.8_Missense_Mutation_p.A1140V|ANK1_ENST00000379758.2_Missense_Mutation_p.A1099V|ANK1_ENST00000289734.7_Missense_Mutation_p.A1099V P16157 ANK1_HUMAN ankyrin 1, erythrocytic 1099 axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) CTTGGTGACGGCATTCTCCGG 0.647000 11 44 0 0 1 0 0 TKT 7086 broad.mit.edu 37 3 53276160 53276160 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:53276160T>C ENST00000462138.1 - 2 294 c.206A>G c.(205-207)gAc>gGc p.D69G TKT_ENST00000423516.1_Missense_Mutation_p.D69G|TKT_ENST00000296289.6_Missense_Mutation_p.D22G|TKT_ENST00000423525.2_Missense_Mutation_p.D69G P29401 TKT_HUMAN transketolase 69 energy reserve metabolic process|xylulose biosynthetic process cytosol protein binding|transketolase activity endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 17 Prostate(884;0.0959) BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201) Thiamine(DB00152) CACAAAGCGGTCATTGTGCGG 0.602000 22 65 0 0 1 0 0 SOCS6 9306 broad.mit.edu 37 18 67993103 67993103 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr18:67993103A>G ENST00000397942.3 + 2 1515 c.1199A>G c.(1198-1200)aAc>aGc p.N400S SOCS6_ENST00000582322.1_Missense_Mutation_p.N400S NM_004232.3 NP_004223.2 O14544 SOCS6_HUMAN suppressor of cytokine signaling 6 400 SH2. defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth cytoplasm NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2) 22 Esophageal squamous(42;0.129)|Colorectal(73;0.152) AAGCTAGCAAACGTGCCAGAT 0.468000 5 100 0 0 1 0 0 GLO1 2739 broad.mit.edu 37 6 38670782 38670782 + Missense_Mutation SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:38670782G>T ENST00000373365.4 - 1 135 c.49C>A c.(49-51)Ctc>Atc p.L17I NM_006708.2 NP_006699.2 Q04760 LGUL_HUMAN glyoxalase I 17 anti-apoptosis|carbohydrate metabolic process cytoplasm lactoylglutathione lyase activity|metal ion binding lung(2)|ovary(2)|prostate(1)|urinary_tract(1) 6 Glutathione(DB00143) CAGCAACTGAGGGCGGCCTCG 0.697000 12 32 3.45872e-05 3.53152e-05 1 1 0 NPR3 4883 broad.mit.edu 37 5 32724858 32724858 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:32724858A>G ENST00000265074.8 + 2 1167 c.824A>G c.(823-825)cAc>cGc p.H275R NPR3_ENST00000415685.2_Missense_Mutation_p.H59R|NPR3_ENST00000415167.2_Missense_Mutation_p.H275R|NPR3_ENST00000434067.2_Missense_Mutation_p.H59R NM_000908.3|NM_001204375.1 NP_000899.1|NP_001191304.1 P17342 ANPRC_HUMAN natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C) 275 osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development integral to membrane hormone binding|natriuretic peptide receptor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 24 Nesiritide(DB04899) CTGGTGGCGCACAGGCATGGC 0.537000 20 46 0 0 1 0 0 PCBP3 54039 broad.mit.edu 37 21 47360108 47360108 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr21:47360108C>T ENST00000400314.1 + 15 1412 c.1074C>T c.(1072-1074)aaC>aaT p.N358N PCBP3_ENST00000400304.1_Silent_p.N348N|PCBP3_ENST00000468429.1_3'UTR|PCBP3_ENST00000400310.1_Silent_p.N338N|PCBP3_ENST00000400309.1_Silent_p.N357N|PCBP3_ENST00000449640.1_Silent_p.N358N|PCBP3_ENST00000400308.1_Silent_p.N332N P57721 PCBP3_HUMAN poly(rC) binding protein 3 358 mRNA metabolic process cytosol|mitochondrion|nucleus|ribonucleoprotein complex DNA binding|RNA binding p.N326N(1)|p.N358N(1) biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 17 all_hematologic(128;0.24) Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649) ATCTCATCAACGCCAGGTGAG 0.627000 15 48 0 0 1 0 0 HAO2 51179 broad.mit.edu 37 1 119925634 119925634 + Silent SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:119925634A>T ENST00000361035.4 + 4 550 c.267A>T c.(265-267)gcA>gcT p.A89A HAO2_ENST00000325945.3_Silent_p.A76A NM_001005783.1 NP_001005783.1 Q9NYQ3 HAOX2_HUMAN hydroxyacid oxidase 2 (long chain) 76 FMN hydroxy acid dehydrogenase. fatty acid alpha-oxidation peroxisome (S)-2-hydroxy-acid oxidase activity breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 30 all_neural(166;0.187) all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284) Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856) TTTGTATCGCACCCACAGGGT 0.567000 9 21 0 0 1 0 0 BICD2 23299 broad.mit.edu 37 9 95527004 95527004 + Missense_Mutation SNP T T A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:95527004T>A ENST00000356884.6 - 1 90 c.23A>T c.(22-24)gAg>gTg p.E8V BICD2_ENST00000375512.3_Missense_Mutation_p.E8V NM_001003800.1 NP_001003800.1 Q8TD16 BICD2_HUMAN bicaudal D homolog 2 (Drosophila) 8 microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane Rab GTPase binding cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 CGCGTACTCCTCCTCCTCCGA 0.741000 4 15 0 0 1 0 0 NSMCE1 197370 broad.mit.edu 37 16 27238046 27238046 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:27238046T>C ENST00000361439.4 - 6 694 c.595A>G c.(595-597)Atc>Gtc p.I199V NSMCE1_ENST00000565384.1_5'UTR NM_145080.3 NP_659547.2 Q8WV22 NSE1_HUMAN non-SMC element 1 homolog (S. cerevisiae) 199 DNA recombination|DNA repair|intracellular signal transduction nucleus zinc ion binding endometrium(2)|large_intestine(2)|lung(3) 7 GGTACCTGGATGAGGAGGCTG 0.642000 21 50 0 0 1 0 0 FNDC1 84624 broad.mit.edu 37 6 159636044 159636044 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:159636044G>A ENST00000297267.9 + 5 728 c.528G>A c.(526-528)gcG>gcA p.A176A FNDC1_ENST00000340366.6_Silent_p.A176A NM_032532.2 NP_115921.2 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 176 Fibronectin type-III 2. extracellular region NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3) 93 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) TGTCCGTTGCGTGGAAGGCAC 0.562000 15 66 0 0 1 0 0 HCN2 610 broad.mit.edu 37 19 615973 615973 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:615973C>T ENST00000251287.2 + 8 2222 c.2169C>T c.(2167-2169)gtC>gtT p.V723V AC005559.2_ENST00000591847.1_RNA NM_001194.3 NP_001185.3 Q9UL51 HCN2_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 2 723 Pro-rich. cell-cell signaling|muscle contraction voltage-gated potassium channel complex cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity endometrium(5)|lung(4) 9 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) 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) cgccgcAGGTCACCTCGGCCA 0.751000 9 11 0 0 1 0 0 LINGO1 84894 broad.mit.edu 37 15 77907860 77907860 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:77907860C>T ENST00000355300.6 - 2 563 c.389G>A c.(388-390)cGc>cAc p.R130H LINGO1_ENST00000561030.1_Missense_Mutation_p.R124H NM_032808.5 NP_116197.4 Q96FE5 LIGO1_HUMAN leucine rich repeat and Ig domain containing 1 130 negative regulation of axonogenesis|nerve growth factor receptor signaling pathway integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 31 GAGCTTCAGGCGGTTGCTGCG 0.582000 17 31 0 0 1 0 0 LZTS3 9762 broad.mit.edu 37 20 3146964 3146964 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:3146964C>T ENST00000329152.3 - 2 1899 c.502G>A c.(502-504)Gta>Ata p.V168I LZTS3_ENST00000360342.3_Missense_Mutation_p.V168I|LZTS3_ENST00000337576.5_Missense_Mutation_p.V168I NM_014731.2 NP_055546.1 TTCTTGGGTACGACAGGCTTG 0.627000 11 43 0 0 1 0 0 N4BP2L2 10443 broad.mit.edu 37 13 33017615 33017615 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr13:33017615T>C ENST00000357505.6 - 7 1118 c.1014A>G c.(1012-1014)gaA>gaG p.E338E N4BP2L2_ENST00000504114.1_Silent_p.E338E|N4BP2L2_ENST00000446957.2_Intron|N4BP2L2_ENST00000380121.3_5'UTR|N4BP2L2_ENST00000399396.3_Silent_p.E353E NM_001278432.1 NP_001265361.1 Q92802 N42L2_HUMAN NEDD4 binding protein 2-like 2 0 kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1) 16 Lung SC(185;0.0262) all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243) TATACACTTGTTCCTCTCTTA 0.358000 4 22 0 0 1 0 0 OR6C2 341416 broad.mit.edu 37 12 55846907 55846907 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:55846907A>G ENST00000322678.1 + 1 910 c.910A>G c.(910-912)Aag>Gag p.K304E RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA NM_054105.1 NP_473446.1 Q9NZP2 OR6C2_HUMAN olfactory receptor, family 6, subfamily C, member 2 304 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 23 TGACTCTATAAAGAGGATTGC 0.393000 11 53 0 0 1 0 0 ABCD1 215 broad.mit.edu 37 X 153001628 153001628 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chrX:153001628A>G ENST00000218104.3 + 3 1543 c.1144A>G c.(1144-1146)Aca>Gca p.T382A U52111.14_ENST00000434284.1_RNA NM_000033.3 NP_000024.2 P33897 ABCD1_HUMAN ATP-binding cassette, sub-family D (ALD), member 1 382 ABC transmembrane type-1. fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization cytosol|integral to peroxisomal membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2) 18 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GAGCGAGCGCACAGAAGCCTT 0.627000 47 43 0 0 1 0 0 TGM6 343641 broad.mit.edu 37 20 2376055 2376055 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:2376055G>A ENST00000202625.2 + 3 458 c.397G>A c.(397-399)Gtt>Att p.V133I TGM6_ENST00000477505.1_Intron|TGM6_ENST00000381423.1_Missense_Mutation_p.V133I NM_198994.2 NP_945345.2 O95932 TGM3L_HUMAN transglutaminase 6 133 cell death|peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4) 52 L-Glutamine(DB00130) GGGCGAGTTTGTTCTCCTTTT 0.567000 49 142 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25227119 25227119 + RNA SNP T T A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:25227119T>A ENST00000551631.2 + 0 422 NR_001293.1 GAAATAAGCATATATTGCAGA 0.363000 7 292 0 0 1 0 0 ITGA4 3676 broad.mit.edu 37 2 182347240 182347240 + Splice_Site SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:182347240G>A ENST00000397033.2 + 9 1333 c.e9-1 NM_000885.4 NP_000876.3 P13612 ITA4_HUMAN integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) TTTTGGGACAGCTTGGATCGT 0.473000 6 311 0 0 1 0 0 POTEA 340441 broad.mit.edu 37 8 43157136 43157136 + RNA SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:43157136T>C ENST00000522175.2 + 0 697 Q6S8J7 POTEA_HUMAN POTE ankyrin domain family, member A breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 ATACTTGCTGTACGTTGTGGA 0.318000 13 81 0 0 1 0 0 PHF20 51230 broad.mit.edu 37 20 34515747 34515747 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:34515747C>T ENST00000374012.3 + 14 2179 c.2050C>T c.(2050-2052)Ctg>Ttg p.L684L PHF20_ENST00000439301.1_3'UTR Q9BVI0 PHF20_HUMAN PHD finger protein 20 684 regulation of transcription, DNA-dependent|transcription, DNA-dependent MLL1 complex DNA binding|zinc ion binding breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Breast(12;0.00631)|all_lung(11;0.0145) CATGGGATTACTGGAAGAAAA 0.438000 5 191 0 0 1 0 0 MTPAP 55149 broad.mit.edu 37 10 30602795 30602795 + Missense_Mutation SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:30602795A>T ENST00000358107.4 - 10 1881 c.1882T>A c.(1882-1884)Ttt>Att p.F628I MTPAP_ENST00000488290.1_5'UTR|MTPAP_ENST00000263063.3_Missense_Mutation_p.F498I Q9NVV4 PAPD1_HUMAN mitochondrial poly(A) polymerase 498 cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent mitochondrion ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 AAATCTACAAATTTTTGCAGC 0.418000 29 80 0 0 1 0 0 EPG5 57724 broad.mit.edu 37 18 43534459 43534459 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr18:43534459T>C ENST00000282041.5 - 2 943 c.909A>G c.(907-909)caA>caG p.Q303Q NM_020964.2 NP_066015.2 Q9HCE0 EPG5_HUMAN ectopic P-granules autophagy protein 5 homolog (C. elegans) 303 autophagy NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 95 CCAGCAGCAGTTGCTTCCTAC 0.418000 6 163 0 0 1 0 0 PRPF8 10594 broad.mit.edu 37 17 1580919 1580919 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:1580919G>A ENST00000572621.1 - 13 2189 c.1924C>T c.(1924-1926)Cgt>Tgt p.R642C PRPF8_ENST00000304992.6_Missense_Mutation_p.R642C Q6P2Q9 PRP8_HUMAN pre-mRNA processing factor 8 642 catalytic step 2 spliceosome|nuclear speck|U5 snRNP protein binding|RNA binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 77 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) GTAATGCCACGCATGAAAAAG 0.532000 60 104 0 0 1 0 0 DLGAP3 58512 broad.mit.edu 37 1 35351777 35351777 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:35351777C>T ENST00000373347.1 - 6 1764 c.1496G>A c.(1495-1497)cGg>cAg p.R499Q DLGAP3_ENST00000235180.4_Missense_Mutation_p.R499Q O95886 DLGP3_HUMAN discs, large (Drosophila) homolog-associated protein 3 499 cell-cell signaling cell junction|postsynaptic density|postsynaptic membrane central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1) 46 Myeloproliferative disorder(586;0.0393) GCTGTGGCTCCGCATGCGGAA 0.697000 10 19 0 0 1 0 0 SNRNP200 23020 broad.mit.edu 37 2 96956475 96956475 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:96956475A>G ENST00000323853.5 - 19 2577 c.2500T>C c.(2500-2502)Tac>Cac p.Y834H SNRNP200_ENST00000349783.5_Intron NM_014014.4 NP_054733.2 O75643 U520_HUMAN small nuclear ribonucleoprotein 200kDa (U5) 834 Helicase C-terminal 1. catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1) 90 TCTGGACTGTACACCTGGGTG 0.488000 22 189 0 0 1 0 0 PRKDC 5591 broad.mit.edu 37 8 48815311 48815311 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:48815311A>G ENST00000314191.2 - 27 3143 c.3087T>C c.(3085-3087)tgT>tgC p.C1029C PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Silent_p.C1029C NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 1029 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) TACACCGACCACAAAAATCTC 0.393000 Non-homologous end-joining 5 69 0 0 1 0 0 GABRR3 200959 broad.mit.edu 37 3 97705720 97705720 + RNA SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:97705720T>C ENST00000472788.1 - 0 1212 NM_001105580.2 NP_001099050.1 A8MPY1 GBRR3_HUMAN gamma-aminobutyric acid (GABA) A receptor, rho 3 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity large_intestine(2)|lung(1) 3 CATGAAGTCTTCTGAGTTTAG 0.433000 6 8 0 0 1 0 0 SEMA5A 9037 broad.mit.edu 37 5 9044645 9044645 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:9044645C>T ENST00000382496.5 - 22 3610 c.2945G>A c.(2944-2946)gGc>gAc p.G982D CTD-2215L10.1_ENST00000506519.1_RNA NM_003966.2 NP_003957.2 Q13591 SEM5A_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A 982 cell adhesion|cell-cell signaling integral to membrane|plasma membrane biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 81 GAGGAGGCAGCCGAGGATGGA 0.557000 34 90 0 0 1 0 0 AE000661.37 0 broad.mit.edu 37 14 22933207 22933207 + RNA SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:22933207A>G ENST00000514473.2 - 0 225 AE000661.37_ENST00000556777.1_RNA|TRDC_ENST00000390477.2_RNA CATAGTTCATACCGAGAAGGT 0.453000 3 33 0 0 1 0 0 CELSR1 9620 broad.mit.edu 37 22 46787171 46787171 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr22:46787171G>A ENST00000262738.3 - 16 6161 c.6162C>T c.(6160-6162)ggC>ggT p.G2054G NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 2054 central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) CTTTGGGACAGCCATTGTAGA 0.612000 OREG0026656 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 39 0 0 1 0 0 IGSF11 152404 broad.mit.edu 37 3 118621703 118621703 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:118621703T>C ENST00000354673.2 - 9 1337 c.957A>G c.(955-957)cgA>cgG p.R319R IGSF11_ENST00000441144.2_Silent_p.R295R|IGSF11_ENST00000491903.1_Silent_p.R292R|IGSF11_ENST00000393775.2_Silent_p.R320R|IGSF11_ENST00000425327.2_Silent_p.R319R|IGSF11_ENST00000489689.1_Silent_p.R296R NM_152538.2 NP_689751.2 Q5DX21 IGS11_HUMAN immunoglobulin superfamily, member 11 320 cell adhesion|regulation of growth integral to membrane|plasma membrane receptor activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 TGCTCCAGTATCGACTGTTGT 0.453000 4 155 0 0 1 0 0 KIAA0753 9851 broad.mit.edu 37 17 6524291 6524291 + Missense_Mutation SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:6524291G>T ENST00000361413.3 - 7 1490 c.1132C>A c.(1132-1134)Ctg>Atg p.L378M KIAA0753_ENST00000542606.1_Missense_Mutation_p.L79M|KIAA0753_ENST00000572370.1_Missense_Mutation_p.L79M NM_014804.2 NP_055619.2 Q2KHM9 K0753_HUMAN KIAA0753 378 centrosome endometrium(4)|large_intestine(11)|lung(5)|prostate(4) 24 COAD - Colon adenocarcinoma(228;0.157) TTTGGTGACAGTTTCTTTTCC 0.373000 8 54 0.0381472 0.0383256 1 1 0 PLCXD3 345557 broad.mit.edu 37 5 41313724 41313724 + Missense_Mutation SNP T T G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:41313724T>G ENST00000377801.3 - 3 1035 c.961A>C c.(961-963)Act>Cct p.T321P PLCXD3_ENST00000328457.3_Missense_Mutation_p.T321P Q63HM9 PLCX3_HUMAN phosphatidylinositol-specific phospholipase C, X domain containing 3 321 intracellular signal transduction|lipid catabolic process phospholipase C activity|signal transducer activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 TGCTATCAAGTGTTGGCTTCT 0.398000 15 56 0 0 1 0 0 CYP4F11 57834 broad.mit.edu 37 19 16035644 16035644 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:16035644A>G ENST00000326742.7 - 5 575 c.574T>C c.(574-576)Ttt>Ctt p.F192L CYP4F11_ENST00000248041.7_Missense_Mutation_p.F192L|CYP4F11_ENST00000402119.3_Missense_Mutation_p.F192L Q9HBI6 CP4FB_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 11 192 inflammatory response|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3) 25 ATGTGTTCAAACATGTCCAGT 0.537000 30 76 0 0 1 0 0 INHBB 3625 broad.mit.edu 37 2 121107281 121107281 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:121107281C>T ENST00000295228.3 + 2 1101 c.1055C>T c.(1054-1056)aCg>aTg p.T352M NM_002193.2 NP_002184.2 P09529 INHBB_HUMAN inhibin, beta B 352 activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation extracellular region|perinuclear region of cytoplasm cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2) 15 Prostate(154;0.122) TCCTTCCACACGGCTGTGGTG 0.622000 26 65 0 0 1 0 0 BIRC8 112401 broad.mit.edu 37 19 53793236 53793236 + Missense_Mutation SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:53793236A>T ENST00000426466.1 - 1 1639 c.392T>A c.(391-393)aTa>aAa p.I131K NM_033341.4 NP_203127.3 Q96P09 BIRC8_HUMAN baculoviral IAP repeat containing 8 131 apoptosis zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1) 19 GBM - Glioblastoma multiforme(134;0.00304) TTCCTCCATTATTTTCTTAAC 0.378000 4 194 0 0 1 0 0 FRG1BP 284802 broad.mit.edu 37 20 29628283 29628283 + Silent SNP G G C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:29628283G>C ENST00000278882.3 + 6 665 c.285G>C c.(283-285)ggG>ggC p.G95G FRG1B_ENST00000439954.2_Silent_p.G100G|FRG1B_ENST00000358464.4_Silent_p.G95G p.G95G(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGAAGCAGGGGACATAGAAG 0.378000 6 103 0 0 1 0 0 MMS22L 253714 broad.mit.edu 37 6 97715756 97715756 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:97715756A>G ENST00000275053.4 - 8 1085 c.820T>C c.(820-822)Tac>Cac p.Y274H MMS22L_ENST00000506256.1_5'UTR|MMS22L_ENST00000369251.2_Missense_Mutation_p.Y274H NM_198468.2 NP_940870.2 Q6ZRQ5 MMS22_HUMAN MMS22-like, DNA repair protein 274 double-strand break repair via homologous recombination|replication fork processing nuclear replication fork protein binding breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 50 ACCTTGTCGTACCTGTTGAGT 0.328000 3 15 0 0 1 0 0 CUL2 8453 broad.mit.edu 37 10 35351986 35351986 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:35351986T>C ENST00000374748.1 - 4 437 c.124A>G c.(124-126)Atc>Gtc p.I42V CUL2_ENST00000374742.1_Missense_Mutation_p.I42V|CUL2_ENST00000537177.1_Missense_Mutation_p.I61V|CUL2_ENST00000374751.3_Missense_Mutation_p.I42V|CUL2_ENST00000374749.3_Missense_Mutation_p.I42V|CUL2_ENST00000602371.1_De_novo_Start_InFrame|CUL2_ENST00000374746.1_Missense_Mutation_p.I42V Q13617 CUL2_HUMAN cullin 2 42 cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex ubiquitin protein ligase binding breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2) 31 AAAGCATAGATATCTCTAGTT 0.294000 10 40 0 0 1 0 0 SLC11A2 4891 broad.mit.edu 37 12 51390601 51390601 + Splice_Site SNP T T G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:51390601T>G ENST00000394904.3 - 9 966 c.918_splice c.e9+1 p.K306_splice SLC11A2_ENST00000262052.5_Splice_Site_p.K277_splice|SLC11A2_ENST00000262051.7_Splice_Site_p.K277_splice|SLC11A2_ENST00000541174.2_Splice_Site_p.K277_splice|SLC11A2_ENST00000546743.1_Splice_Site_p.K198_splice|SLC11A2_ENST00000545993.2_Splice_Site_p.K273_splice|SLC11A2_ENST00000547198.1_Splice_Site_p.K277_splice|SLC11A2_ENST00000547688.1_Splice_Site_p.K306_splice NM_001174125.1 NP_001167596.1 P49281 NRAM2_HUMAN solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2 277 activation of caspase activity|cellular iron ion homeostasis|cellular response to oxidative stress|detection of oxygen|ferrous iron import|multicellular organismal iron ion homeostasis|response to hypoxia|response to iron ion apical plasma membrane|basal part of cell|cell surface|cytoplasmic vesicle|early endosome|late endosome|late endosome membrane|lysosomal membrane|lysosome|nucleus|paraferritin complex|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|manganese ion transmembrane transporter activity|nickel ion transmembrane transporter activity|protein binding|solute:hydrogen symporter activity|vanadium ion transmembrane transporter activity|zinc ion transmembrane transporter activity breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1) 36 CTTGCTCACCTTGACTAAGGC 0.478000 8 96 0 0 1 0 0 CORO2A 7464 broad.mit.edu 37 9 100893279 100893279 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:100893279G>A ENST00000343933.5 - 7 1085 c.828C>T c.(826-828)ccC>ccT p.P276P CORO2A_ENST00000375077.4_Silent_p.P276P NM_003389.3 NP_003380.3 Q92828 COR2A_HUMAN coronin, actin binding protein, 2A 276 actin cytoskeleton organization|intracellular signal transduction actin cytoskeleton|transcriptional repressor complex actin filament binding endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1) 26 Acute lymphoblastic leukemia(62;0.0559) CGTCATAGAAGGGAAACAGCA 0.642000 5 43 0 0 1 0 0 HDAC5 10014 broad.mit.edu 37 17 42169798 42169798 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:42169798A>G ENST00000225983.6 - 8 1196 c.873T>C c.(871-873)atT>atC p.I291I HDAC5_ENST00000586802.1_Silent_p.I290I|HDAC5_ENST00000393622.2_Silent_p.I290I|HDAC5_ENST00000336057.5_Silent_p.I290I Q9UQL6 HDAC5_HUMAN histone deacetylase 5 290 B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent cytoplasm|histone deacetylase complex histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1) 21 Breast(137;0.00637)|Prostate(33;0.0313) BRCA - Breast invasive adenocarcinoma(366;0.118) TAAAGGTGCTAATAACAGTCC 0.552000 15 32 0 0 1 0 0 TOP1 7150 broad.mit.edu 37 20 39729957 39729957 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:39729957T>C ENST00000361337.2 + 13 1522 c.1272T>C c.(1270-1272)atT>atC p.I424I RP1-1J6.2_ENST00000454626.1_RNA NM_003286.2 NP_003277.1 P11387 TOP1_HUMAN topoisomerase (DNA) I 424 DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug chromosome|nucleolus|nucleoplasm ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 37 Myeloproliferative disorder(115;0.00878) Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030) AAGGTTCCATTAAATACATCA 0.433000 T NUP98 AML* 18 48 0 0 1 0 0 ATP8B2 57198 broad.mit.edu 37 1 154315748 154315748 + Missense_Mutation SNP A A G rs148837394 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:154315748A>G ENST00000368489.3 + 16 1712 c.1712A>G c.(1711-1713)aAc>aGc p.N571S NM_020452.3 NP_065185.1 P98198 AT8B2_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 2 557 ATP biosynthetic process plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity IL6R/ATP8B2(2) breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) CTGGACTTCAACAACATCCGC 0.577000 13 44 0 0 1 0 0 PLEKHA7 144100 broad.mit.edu 37 11 16812423 16812423 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:16812423T>C ENST00000355661.3 - 21 2984 c.2974A>G c.(2974-2976)Acc>Gcc p.T992A PLEKHA7_ENST00000448080.2_Missense_Mutation_p.T993A|PLEKHA7_ENST00000332954.4_5'UTR|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.T992A Q6IQ23 PKHA7_HUMAN pleckstrin homology domain containing, family A member 7 992 epithelial cell-cell adhesion|zonula adherens maintenance centrosome|zonula adherens delta-catenin binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 37 CCGCTGAGGGTCGCCAGCTCA 0.647000 5 17 0 0 1 0 0 FLVCR2 55640 broad.mit.edu 37 14 76091084 76091084 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:76091084T>C ENST00000238667.4 + 3 1297 c.941T>C c.(940-942)gTc>gCc p.V314A FLVCR2_ENST00000556856.1_Missense_Mutation_p.V62A|FLVCR2_ENST00000553587.1_Missense_Mutation_p.V62A|FLVCR2_ENST00000539311.1_Missense_Mutation_p.V109A|FLVCR2_ENST00000556241.1_3'UTR NM_017791.2 NP_060261.2 Q9UPI3 FLVC2_HUMAN feline leukemia virus subgroup C cellular receptor family, member 2 314 transmembrane transport integral to membrane|plasma membrane heme binding|heme transporter activity endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 15 BRCA - Breast invasive adenocarcinoma(234;0.029) GTGCTGCTTGTCATCACCTAT 0.453000 9 108 0 0 1 0 0 DSG4 147409 broad.mit.edu 37 18 28991197 28991197 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr18:28991197T>C ENST00000359747.4 + 14 2227 c.2198T>C c.(2197-2199)aTc>aCc p.I733T DSG4_ENST00000308128.4_Missense_Mutation_p.I714T|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA NM_001134453.1 NP_001127925.1 Q86SJ6 DSG4_HUMAN desmoglein 4 714 homophilic cell adhesion desmosome|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) TTTTCAGAAATCTACACCAAC 0.607000 8 128 0 0 1 0 0 ACTRT1 139741 broad.mit.edu 37 X 127185998 127185998 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chrX:127185998T>C ENST00000371124.3 - 1 384 c.188A>G c.(187-189)tAc>tGc p.Y63C NM_138289.3 NP_612146.1 Q8TDG2 ACTT1_HUMAN actin-related protein T1 63 cytoplasm|cytoskeleton breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3) 34 CTCATACTTGTACAGGGCTTC 0.493000 67 74 0 0 1 0 0 COL6A2 1292 broad.mit.edu 37 21 47536294 47536294 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr21:47536294G>A ENST00000300527.4 + 8 1008 c.904G>A c.(904-906)Gtt>Att p.V302I COL6A2_ENST00000357838.4_Missense_Mutation_p.V302I|COL6A2_ENST00000310645.5_Missense_Mutation_p.V302I|COL6A2_ENST00000397763.1_Missense_Mutation_p.V302I|COL6A2_ENST00000409416.1_Missense_Mutation_p.V302I NM_001849.3 NP_001840.3 P12110 CO6A2_HUMAN collagen, type VI, alpha 2 302 Triple-helical region. axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 43 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) CCCCCAGGGCGTTCCTGGCTT 0.667000 17 43 0 0 1 0 0 NT5C3B 115024 broad.mit.edu 37 17 39991346 39991346 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:39991346G>A ENST00000269534.8 - 4 281 c.180C>T c.(178-180)atC>atT p.I60I NT5C3B_ENST00000521789.1_Silent_p.I35I|NT5C3B_ENST00000435506.2_Silent_p.I68I NM_052935.4 NP_443167.4 5'-nucleotidase, cytosolic IIIB CCTCACTGATGATCTTGCTAT 0.428000 36 99 0 0 1 0 0 APBA1 320 broad.mit.edu 37 9 72067080 72067080 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:72067080G>A ENST00000265381.4 - 9 2148 c.1926C>T c.(1924-1926)aaC>aaT p.N642N NM_001163.3 NP_001154.2 Q02410 APBA1_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 1 642 PID. axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission synaptic vesicle endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3) 37 TCAGGTCATCGTTGTACATGT 0.517000 47 164 0 0 1 0 0 SIPA1L2 57568 broad.mit.edu 37 1 232601028 232601028 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:232601028T>C ENST00000366630.1 - 8 2736 c.2378A>G c.(2377-2379)aAa>aGa p.K793R SIPA1L2_ENST00000262861.4_Missense_Mutation_p.K793R Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 2 793 Rap-GAP. regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 103 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) CTTTTCTGATTTATGGGCTGC 0.483000 4 170 0 0 1 0 0 MIS12 79003 broad.mit.edu 37 17 5392753 5392753 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:5392753A>G ENST00000381165.3 + 3 1124 c.571A>G c.(571-573)Att>Gtt p.I191V MIS12_ENST00000573759.1_Missense_Mutation_p.I191V NM_001258217.1|NM_001258219.1|NM_001258220.1|NM_024039.2 NP_001245146.1|NP_001245148.1|NP_001245149.1|NP_076944.1 Q9H081 MIS12_HUMAN MIS12 kinetochore complex component 191 cell division|chromosome segregation|kinetochore assembly|mitotic prometaphase cytosol|MIS12/MIND type complex|nucleus protein binding central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(2) 12 ACTACAGAACATTAGAGACAA 0.383000 4 174 0 0 1 0 0 SLC38A2 54407 broad.mit.edu 37 12 46764402 46764402 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:46764402A>G ENST00000256689.5 - 4 651 c.207T>C c.(205-207)ggT>ggC p.G69G SLC38A2_ENST00000547252.1_5'UTR NM_018976.4 NP_061849.2 Q96QD8 S38A2_HUMAN solute carrier family 38, member 2 69 Regulates protein turnover upon amino acid deprivation (By similarity). cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport integral to membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 18 Lung SC(27;0.192)|Renal(347;0.236) OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374) GBM - Glioblastoma multiforme(48;0.226) AGGAAGTAGTACCTGGATGCT 0.378000 8 128 0 0 1 0 0 CPA6 57094 broad.mit.edu 37 8 68419112 68419112 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:68419112T>C ENST00000297770.4 - 6 761 c.546A>G c.(544-546)cgA>cgG p.R182R CPA6_ENST00000518549.1_Silent_p.R182R|CPA6_ENST00000297769.4_Silent_p.R34R NM_020361.4 NP_065094.3 Q8N4T0 CBPA6_HUMAN carboxypeptidase A6 182 proteolysis proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5) 26 Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136) TGAGTCGTGATCGTCTGCCCA 0.393000 4 63 0 0 1 0 0 DCST1 149095 broad.mit.edu 37 1 155023290 155023290 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:155023290G>A ENST00000295542.1 + 17 2163 c.2067G>A c.(2065-2067)gaG>gaA p.E689E DCST1_ENST00000423025.2_Silent_p.E664E NM_152494.3 NP_689707.2 Q5T197 DCST1_HUMAN DC-STAMP domain containing 1 689 integral to membrane zinc ion binding breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 27 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.000434) CCCGCGAAGAGCTCTCTTCCT 0.642000 OREG0013846 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 27 0 0 1 0 0 RNGTT 8732 broad.mit.edu 37 6 89554217 89554217 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:89554217A>G ENST00000369485.4 - 11 1314 c.1128T>C c.(1126-1128)gaT>gaC p.D376D RNGTT_ENST00000265607.6_Silent_p.D376D|RNGTT_ENST00000538899.1_Silent_p.D316D|RNGTT_ENST00000369475.3_Silent_p.D376D NM_003800.3 NP_003791.3 O60942 MCE1_HUMAN RNA guanylyltransferase and 5'-phosphatase 376 GTase. interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction nucleoplasm GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 21 all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05) BRCA - Breast invasive adenocarcinoma(108;0.151) GAACATTAAAATCACAATCTC 0.353000 37 83 0 0 1 0 0 HHIP 64399 broad.mit.edu 37 4 145580835 145580835 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:145580835C>T ENST00000296575.3 + 4 1331 c.676C>T c.(676-678)Ctg>Ttg p.L226L HHIP_ENST00000434550.2_Silent_p.L226L|HHIP_ENST00000511314.1_3'UTR|HHIP-AS1_ENST00000512359.1_RNA NM_022475.2 NP_071920.1 Q96QV1 HHIP_HUMAN hedgehog interacting protein 226 cytoplasm|extracellular region catalytic activity|protein binding|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 33 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0185) TGTGAGTGGGCTGCGGCAGCC 0.463000 5 211 0 0 1 0 0 DDX46 9879 broad.mit.edu 37 5 134131842 134131842 + Splice_Site SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:134131842T>C ENST00000452510.2 + 15 2112 c.e15+2 DDX46_ENST00000354283.4_Splice_Site NM_014829.2 NP_055644.2 Q7L014 DDX46_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 46 mRNA processing|RNA splicing Cajal body|nuclear speck ATP binding|ATP-dependent helicase activity|RNA binding NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TTCATGGAGGTAATTATTCAC 0.353000 5 53 0 0 1 0 0 NACA2 342538 broad.mit.edu 37 17 59668030 59668030 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:59668030A>G ENST00000521764.1 - 1 533 c.512T>C c.(511-513)gTc>gCc p.V171A NM_199290.3 NP_954984.1 Q9H009 NACA2_HUMAN nascent polypeptide-associated complex alpha subunit 2 171 protein transport cytoplasm|nucleus large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 12 all_epithelial(1;3.12e-14) TGTTTCATCGACCTCTTCCTC 0.448000 8 297 0 0 1 0 0 ASCC2 84164 broad.mit.edu 37 22 30198121 30198121 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr22:30198121T>C ENST00000397771.2 - 15 1607 c.1430A>G c.(1429-1431)gAc>gGc p.D477G ASCC2_ENST00000542393.1_Missense_Mutation_p.D401G|ASCC2_ENST00000307790.3_Missense_Mutation_p.D477G Q9H1I8 ASCC2_HUMAN activating signal cointegrator 1 complex subunit 2 477 CUE. regulation of transcription, DNA-dependent|transcription, DNA-dependent endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259) TGGCAGCAGGTCCTTCACTTG 0.597000 17 51 0 0 1 0 0 ARHGAP39 80728 broad.mit.edu 37 8 145772613 145772613 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:145772613C>T ENST00000276826.5 - 4 2058 c.1857G>A c.(1855-1857)agG>agA p.R619R ARHGAP39_ENST00000377307.2_Silent_p.R619R|ARHGAP39_ENST00000540274.1_Silent_p.R619R Q9C0H5 RHG39_HUMAN Rho GTPase activating protein 39 619 axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|nucleus GTPase activator activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 CGAAGGTGCCCCTCCTCCAGT 0.682000 10 37 0 0 1 0 0 GPR125 166647 broad.mit.edu 37 4 22414896 22414896 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:22414896C>T ENST00000334304.5 - 14 2410 c.2141G>A c.(2140-2142)gGc>gAc p.G714D GPR125_ENST00000282943.5_5'UTR NM_145290.2 NP_660333.2 Q8IWK6 GP125_HUMAN G protein-coupled receptor 125 714 GPS. neuropeptide signaling pathway integral to membrane G-protein coupled receptor activity breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 56 Breast(46;0.198) TGACTTCCAGCCTCCTTGTCC 0.468000 42 169 0 0 1 0 0 RIC3 79608 broad.mit.edu 37 11 8161645 8161645 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:8161645C>T ENST00000343202.4 - 2 285 c.220G>A c.(220-222)Gag>Aag p.E74K RIC3_ENST00000425599.2_Missense_Mutation_p.E74K|RIC3_ENST00000335425.7_Intron|RIC3_ENST00000309737.6_Missense_Mutation_p.E74K|RIC3_ENST00000539720.1_Missense_Mutation_p.E25K|RIC3_ENST00000419822.2_Missense_Mutation_p.E74K NM_001206671.2|NM_024557.4 NP_001193600.1|NP_078833.3 Q7Z5B4 RIC3_HUMAN RIC3 acetylcholine receptor chaperone 74 endoplasmic reticulum membrane|Golgi membrane|integral to membrane breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1) 17 Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204) GCAAATGCCTCGGCAAGGTGA 0.537000 27 98 0 0 1 0 0 VPS26A 9559 broad.mit.edu 37 10 70922189 70922189 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:70922189A>G ENST00000373382.1 + 7 1232 c.579A>G c.(577-579)ggA>ggG p.G193G VPS26A_ENST00000263559.6_Silent_p.G193G|VPS26A_ENST00000395098.1_Silent_p.G193G|VPS26A_ENST00000490696.1_3'UTR|VPS26A_ENST00000546041.1_Silent_p.G176G|VPS26A_ENST00000541711.1_Silent_p.G82G|VPS26A_ENST00000489794.1_Silent_p.G168G O75436 VP26A_HUMAN vacuolar protein sorting 26 homolog A (S. pombe) 193 retrograde transport, endosome to Golgi|vacuolar transport cytosol|endosome membrane|retromer complex|vesicle protein binding|protein transporter activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2) 8 TGATTGTTGGAAAAATTTACT 0.294000 9 28 0 0 1 0 0 CROCCP2 84809 broad.mit.edu 37 1 16946358 16946358 + RNA SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:16946358G>A ENST00000412962.1 - 0 1161 TCTCGCTCTCGGCCAGGAGGA 0.662000 4 17 0 0 1 0 0 HECTD4 283450 broad.mit.edu 37 12 112608228 112608228 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:112608228G>A ENST00000550722.1 - 69 11918 c.11523C>T c.(11521-11523)acC>acT p.T3841T HECTD4_ENST00000430131.2_Silent_p.T3565T|HECTD4_ENST00000377560.5_Silent_p.T3815T NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 GATTCATCACGGTCACCTTCG 0.582000 OREG0022132 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 45 0 0 1 0 0 TRIP11 9321 broad.mit.edu 37 14 92441051 92441051 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:92441051T>C ENST00000267622.4 - 19 5867 c.5494A>G c.(5494-5496)Atg>Gtg p.M1832V NM_004239.3 NP_004230.2 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 1832 transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 COAD - Colon adenocarcinoma(157;0.223) CACCCAGTCATCCACCTGGTA 0.368000 T PDGFRB AML 12 22 0 0 1 0 0 RBMS1 5937 broad.mit.edu 37 2 161159980 161159980 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:161159980T>C ENST00000348849.3 - 5 851 c.421A>G c.(421-423)Acc>Gcc p.T141A RBMS1_ENST00000409289.2_Missense_Mutation_p.T108A|RBMS1_ENST00000409075.1_Missense_Mutation_p.T108A|RBMS1_ENST00000392753.3_Missense_Mutation_p.T141A|RBMS1_ENST00000474820.1_5'UTR|RBMS1_ENST00000409972.1_Missense_Mutation_p.T108A NM_002897.4|NM_016836.3 NP_002888.1|NP_058520.1 P29558 RBMS1_HUMAN RNA binding motif, single stranded interacting protein 1 141 RRM 2. DNA replication|RNA processing nucleus double-stranded DNA binding|nucleotide binding|protein binding|RNA binding|single-stranded DNA binding PLA2R1/RBMS1(2) TAGAGGTTGGTAGGATCTTGT 0.358000 25 95 0 0 1 0 0 PRAMEF12 390999 broad.mit.edu 37 1 12836112 12836112 + Missense_Mutation SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:12836112C>A ENST00000357726.4 + 2 741 c.714C>A c.(712-714)ttC>ttA p.F238L NM_001080830.1 NP_001074299.1 O95522 PRA12_HUMAN PRAME family member 12 238 NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1) 23 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TTGTTCTCTTCAACATCCATG 0.517000 36 132 4.65686e-17 4.89676e-17 1 1 0 PLEC 5339 broad.mit.edu 37 8 145024806 145024806 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:145024806G>A ENST00000322810.4 - 1 238 c.69C>T c.(67-69)ggC>ggT p.G23G PLEC_ENST00000527096.1_Intron|PLEC_ENST00000356346.3_Intron|PLEC_ENST00000436759.2_Intron|PLEC_ENST00000354958.2_Intron NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 23 Globular 1. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 CCACCATCACGCCCTCGCGGA 0.701000 6 16 0 0 1 0 0 ATP6AP1 537 broad.mit.edu 37 X 153662660 153662660 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chrX:153662660C>T ENST00000369762.2 + 7 852 c.791C>T c.(790-792)gCt>gTt p.A264V NM_001183.4 NP_001174.2 Q15904 VAS1_HUMAN ATPase, H+ transporting, lysosomal accessory protein 1 264 ATP hydrolysis coupled proton transport integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5) 14 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) AATGACACCGCTCCCCGGATC 0.577000 30 113 0 0 1 0 0 ISOC1 51015 broad.mit.edu 37 5 128440948 128440948 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:128440948C>T ENST00000173527.5 + 3 516 c.500C>T c.(499-501)aCg>aTg p.T167M NM_016048.2 NP_057132.2 Q96CN7 ISOC1_HUMAN isochorismatase domain containing 1 167 peroxisome catalytic activity kidney(2)|lung(7) 9 all_cancers(142;0.0813)|Prostate(80;0.0865) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.138)|OV - Ovarian serous cystadenocarcinoma(64;0.164) CTTGGGAGCACGGTTCAAGAA 0.388000 17 55 0 0 1 0 0 DNM3 26052 broad.mit.edu 37 1 171956897 171956897 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:171956897A>G ENST00000358155.4 + 3 513 c.337A>G c.(337-339)Aaa>Gaa p.K113E DNM3_ENST00000520906.1_Missense_Mutation_p.K113E|DNM3_ENST00000367733.2_Missense_Mutation_p.K113E|DNM3_ENST00000355305.5_Missense_Mutation_p.K113E|DNM3_ENST00000367731.1_Missense_Mutation_p.K113E NM_015569.3 NP_056384.2 Q9UQ16 DYN3_HUMAN dynamin 3 113 endocytosis|filopodium assembly|synapse assembly dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density GTP binding|GTPase activity|protein binding NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 TGGAATGAATAAAGGCATTTC 0.353000 6 188 0 0 1 0 0 SUDS3 64426 broad.mit.edu 37 12 118841279 118841279 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:118841279G>A ENST00000543473.1 + 10 1072 c.760G>A c.(760-762)Gaa>Aaa p.E254K SUDS3_ENST00000541280.1_3'UTR|SUDS3_ENST00000397564.2_Missense_Mutation_p.E255K NM_022491.2 NP_071936.2 Q9H7L9 SDS3_HUMAN suppressor of defective silencing 3 homolog (S. cerevisiae) 254 chromatin modification|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent Sin3 complex histone deacetylase binding breast(1)|lung(1) 2 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CCAGAGGTTCGAAGCTCGGAT 0.463000 4 31 0 0 1 0 0 FSCB 84075 broad.mit.edu 37 14 44975760 44975760 + Missense_Mutation SNP T T C rs34582231 byFrequency TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:44975760T>C ENST00000340446.4 - 1 722 c.431A>G c.(430-432)aAc>aGc p.N144S NM_032135.3 NP_115511.3 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 144 cilium breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 89 GBM - Glioblastoma multiforme(112;0.128) AGGGGGGATGTTCATCATGGT 0.413000 18 243 0 0 1 0 0 UBAP2L 9898 broad.mit.edu 37 1 154223759 154223759 + Nonsense_Mutation SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:154223759A>T ENST00000428931.1 + 13 1623 c.1456A>T c.(1456-1458)Aaa>Taa p.K486* UBAP2L_ENST00000271877.7_Nonsense_Mutation_p.K497*|UBAP2L_ENST00000361546.2_Nonsense_Mutation_p.K486*|UBAP2L_ENST00000343815.6_Nonsense_Mutation_p.K486* NM_014847.3 NP_055662.3 Q14157 UBP2L_HUMAN ubiquitin associated protein 2-like 486 binding of sperm to zona pellucida protein binding NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2) 50 all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) GCAGAAACTGAAACAGCAGAA 0.473000 27 96 0 0 1 0 0 OR4K17 390436 broad.mit.edu 37 14 20586438 20586438 + Nonsense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:20586438G>A ENST00000315543.4 + 1 873 c.873G>A c.(871-873)tgG>tgA p.W291* NM_001004715.1 NP_001004715.1 Q8NGC6 OR4KH_HUMAN olfactory receptor, family 4, subfamily K, member 17 263 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3) 21 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.77e-06) GBM - Glioblastoma multiforme(265;0.0144) TCTACATTTGGCCCTTCGGCA 0.423000 18 68 0 0 1 0 0 B3GNT8 374907 broad.mit.edu 37 19 41931841 41931841 + Missense_Mutation SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:41931841C>A ENST00000321702.2 - 3 1296 c.843G>T c.(841-843)atG>atT p.M281I CTC-435M10.6_ENST00000598887.1_RNA NM_198540.2 NP_940942.1 Q7Z7M8 B3GN8_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 281 poly-N-acetyllactosamine biosynthetic process|protein glycosylation Golgi membrane|integral to membrane galactosyltransferase activity|protein N-acetylglucosaminyltransferase activity cervix(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2) 11 TCCGGAGAGGCATGGCCTGGG 0.642000 15 52 1.3612e-06 1.39554e-06 1 1 0 OR13D1 286365 broad.mit.edu 37 9 107457096 107457096 + Nonsense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:107457096C>T ENST00000318763.5 + 1 437 c.394C>T c.(394-396)Cag>Tag p.Q132* NM_001004484.1 NP_001004484.1 Q8NGV5 O13D1_HUMAN olfactory receptor, family 13, subfamily D, member 1 132 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2) 19 CTGTGCTCTGCAGATGGTTGT 0.483000 8 254 0 0 1 0 0 COL2A1 1280 broad.mit.edu 37 12 48369218 48369218 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:48369218A>G ENST00000380518.3 - 51 3932 c.3768T>C c.(3766-3768)gaT>gaC p.D1256D COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Silent_p.D1187D NM_001844.4|NM_033150.2 NP_001835.3|NP_149162.2 P02458 CO2A1_HUMAN collagen, type II, alpha 1 1256 Fibrillar collagen NC1. axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3) 64 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) TGAGTGTGGCATCCACCTCGG 0.642000 10 128 0 0 1 0 0 PKP2 5318 broad.mit.edu 37 12 33021956 33021956 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:33021956T>C ENST00000340811.4 - 4 1183 c.1075A>G c.(1075-1077)Atg>Gtg p.M359V PKP2_ENST00000070846.6_Missense_Mutation_p.M359V NM_001005242.2 NP_001005242.2 Q99959 PKP2_HUMAN plakophilin 2 359 cell-cell adhesion desmosome|integral to membrane|nucleus binding NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 50 Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) GCCTCGAGCATACTCACTGCT 0.527000 4 188 0 0 1 0 0 SLC35B2 347734 broad.mit.edu 37 6 44224080 44224080 + Splice_Site SNP T T A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:44224080T>A ENST00000393812.3 - 3 502 c.360_splice c.e3+1 p.Q120_splice SLC35B2_ENST00000495706.1_5'UTR|SLC35B2_ENST00000538577.1_Intron|SLC35B2_ENST00000537814.1_Intron|SLC35B2_ENST00000393810.1_Intron NM_178148.2 NP_835361.1 Q8TB61 S35B2_HUMAN solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2 120 positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1) 15 all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) CCTACCCACCTGGAGCCCTGT 0.617000 23 210 0 0 1 0 0 KRT75 9119 broad.mit.edu 37 12 52825376 52825376 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:52825376A>G ENST00000252245.5 - 4 1041 c.821T>C c.(820-822)gTc>gCc p.V274A NM_004693.2 NP_004684.2 O95678 K2C75_HUMAN keratin 75 274 Coil 1B.|Rod. keratin filament structural molecule activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1) 28 BRCA - Breast invasive adenocarcinoma(357;0.192) CAGAGATTTGACCTTGGCTTC 0.498000 28 118 0 0 1 0 0 KIAA0196 9897 broad.mit.edu 37 8 126059447 126059447 + Splice_Site SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:126059447A>G ENST00000318410.7 - 20 2854 c.e20+1 KIAA0196_ENST00000517845.1_Splice_Site NM_014846.3 NP_055661.3 Q12768 STRUM_HUMAN KIAA0196 cell death WASH complex NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 42 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) AGGTACACCTACTTTGGGTCT 0.517000 17 75 0 0 1 0 0 MAZ 4150 broad.mit.edu 37 16 29820065 29820065 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:29820065A>G ENST00000569978.1 + 2 376 c.85A>G c.(85-87)Aca>Gca p.T29A MAZ_ENST00000322945.6_Intron|MAZ_ENST00000563402.1_Intron|AC009133.14_ENST00000569981.1_RNA|MAZ_ENST00000568282.1_Intron|MAZ_ENST00000566906.2_Intron|MAZ_ENST00000568544.1_Intron|MAZ_ENST00000219782.6_Intron|MAZ_ENST00000562337.1_Intron|AC009133.14_ENST00000563806.1_RNA|MAZ_ENST00000545521.1_Intron P56270 MAZ_HUMAN MYC-associated zinc finger protein (purine-binding transcription factor) 428 regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter nucleus DNA binding|protein binding|RNA binding|zinc ion binding endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 10 CAACAAAGGTACATGCCGAGG 0.607000 5 29 0 0 1 0 0 FBXL8 55336 broad.mit.edu 37 16 67197515 67197515 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:67197515T>C ENST00000258200.3 + 3 1094 c.917T>C c.(916-918)cTc>cCc p.L306P HSF4_ENST00000264009.8_5'UTR|RP11-5A19.5_ENST00000580114.1_Silent_p.A76A|HSF4_ENST00000421453.1_5'UTR|FBXL8_ENST00000519917.1_Missense_Mutation_p.L306P Q96CD0 FBXL8_HUMAN F-box and leucine-rich repeat protein 8 306 protein binding endometrium(1) 1 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0144)|Epithelial(162;0.0338)|all cancers(182;0.185) CTGTGCGCGCTCGAGGTGCGC 0.721000 8 15 0 0 1 0 0 KIF26B 55083 broad.mit.edu 37 1 245851965 245851965 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:245851965G>A ENST00000366518.4 + 9 4641 c.4537G>A c.(4537-4539)Ggc>Agc p.G1513S KIF26B_ENST00000407071.2_Missense_Mutation_p.G1894S Q2KJY2 KI26B_HUMAN kinesin family member 26B 1894 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) CCACAGCGGCGGCAGCAGCGG 0.721000 3 23 0 0 1 0 0 MKI67 4288 broad.mit.edu 37 10 129905653 129905653 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:129905653G>A ENST00000368654.3 - 13 4826 c.4451C>T c.(4450-4452)aCg>aTg p.T1484M MKI67_ENST00000368653.3_Missense_Mutation_p.T1124M NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 1484 16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) CTCGTGAGTCGTGGGCTTGTC 0.507000 109 351 0 0 1 0 0 ZNF445 353274 broad.mit.edu 37 3 44488161 44488161 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:44488161G>A ENST00000425708.2 - 7 3343 c.3002C>T c.(3001-3003)aCt>aTt p.T1001I ZNF445_ENST00000396077.2_Missense_Mutation_p.T1001I P59923 ZN445_HUMAN zinc finger protein 445 1001 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3) 31 KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646) CCTCTCTCGAGTATGAAATCT 0.443000 5 182 0 0 1 0 0 LCT 3938 broad.mit.edu 37 2 136566157 136566157 + Nonsense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:136566157G>A ENST00000264162.2 - 8 3770 c.3760C>T c.(3760-3762)Cga>Tga p.R1254* NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 1254 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) AGCAGCCTTCGCGTCCCCCAG 0.572000 33 116 0 0 1 0 0 THNSL2 55258 broad.mit.edu 37 2 88472781 88472781 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:88472781T>C ENST00000324166.5 + 1 1803 c.112T>C c.(112-114)Ttg>Ctg p.L38L THNSL2_ENST00000358591.2_Silent_p.L38L|THNSL2_ENST00000402102.1_Silent_p.L38L|THNSL2_ENST00000377254.3_Silent_p.L38L|THNSL2_ENST00000449349.1_Silent_p.L6L|THNSL2_ENST00000343544.4_Silent_p.L38L NM_018271.4 NP_060741.3 Q86YJ6 THNS2_HUMAN threonine synthase-like 2 (S. cerevisiae) 38 threonine biosynthetic process threonine synthase activity breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2) 27 GCTCCCACAGTTGGACAGAGG 0.597000 29 73 0 0 1 0 0 ZNF622 90441 broad.mit.edu 37 5 16465396 16465396 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:16465396C>T ENST00000308683.2 - 1 505 c.379G>A c.(379-381)Gcc>Acc p.A127T NM_033414.2 NP_219482.1 Q969S3 ZN622_HUMAN zinc finger protein 622 127 cytoplasm|nucleus nucleic acid binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1) 25 GCGTTCATGGCATCCTTGTCC 0.587000 33 110 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62290595 62290595 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:62290595A>G ENST00000378024.4 - 5 11568 c.11294T>C c.(11293-11295)gTt>gCt p.V3765A AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 3765 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) GGGCAGAGAAACATCCACATC 0.468000 8 281 0 0 1 0 0 ZNF205 7755 broad.mit.edu 37 16 3169916 3169916 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:3169916C>T ENST00000382192.3 + 7 1460 c.1255C>T c.(1255-1257)Ccg>Tcg p.P419S ZNF205_ENST00000219091.4_Missense_Mutation_p.P419S|RP11-473M20.14_ENST00000575139.1_RNA|RP11-473M20.14_ENST00000576490.1_RNA NM_001278158.1|NM_003456.2 NP_001265087.1|NP_003447.2 O95201 ZN205_HUMAN zinc finger protein 205 419 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 20 GGGCGCCAAGCCGCACAAGTG 0.682000 34 129 0 0 1 0 0 GMIP 51291 broad.mit.edu 37 19 19744755 19744755 + Missense_Mutation SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:19744755G>T ENST00000203556.4 - 19 2466 c.2329C>A c.(2329-2331)Cct>Act p.P777T GMIP_ENST00000445806.2_Missense_Mutation_p.P748T|GMIP_ENST00000587238.1_Missense_Mutation_p.P751T NM_016573.2 NP_057657.2 Q9P107 GMIP_HUMAN GEM interacting protein 777 Pro-rich. negative regulation of Rho GTPase activity|small GTPase mediated signal transduction cytosol metal ion binding|protein binding|Rho GTPase activator activity breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 aggggcccaggggctgggctg 0.672000 9 18 3.86212e-05 3.93362e-05 1 1 0 CSPP1 79848 broad.mit.edu 37 8 68089926 68089926 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:68089926G>A ENST00000262210.5 + 25 3137 c.3106G>A c.(3106-3108)Gcc>Acc p.A1036T CSPP1_ENST00000412460.1_Missense_Mutation_p.A691T|CSPP1_ENST00000521168.1_3'UTR|ARFGEF1_ENST00000520381.1_Intron NM_024790.6 NP_079066.5 Q1MSJ5 CSPP1_HUMAN centrosome and spindle pole associated protein 1 1071 centrosome|microtubule|spindle NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1) 49 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153) TGACTTAGATGCCATCCCAAG 0.313000 24 112 0 0 1 0 0 CPSF3 51692 broad.mit.edu 37 2 9582061 9582061 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:9582061G>A ENST00000460593.1 + 9 2078 c.940G>A c.(940-942)Ggt>Agt p.G314S CPSF3_ENST00000238112.3_Missense_Mutation_p.G351S Q9UKF6 CPSF3_HUMAN cleavage and polyadenylation specific factor 3, 73kDa 351 histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex 5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308) all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644) TAAGAGGAATGGTGTCATTAT 0.453000 63 153 0 0 1 0 0 PTX4 390667 broad.mit.edu 37 16 1537432 1537432 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:1537432C>T ENST00000447419.2 - 2 706 c.681G>A c.(679-681)tcG>tcA p.S227S PTX4_ENST00000440447.2_Intron|PTX4_ENST00000293922.1_Silent_p.S222S Q96A99 PTX4_HUMAN pentraxin 4, long 227 extracellular region metal ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 17 GGAGAGGGGCCGAGGAGTCCT 0.692000 16 39 0 0 1 0 0 VPS41 27072 broad.mit.edu 37 7 38816315 38816315 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:38816315A>G ENST00000310301.4 - 11 900 c.846T>C c.(844-846)gtT>gtC p.V282V VPS41_ENST00000395969.2_Silent_p.V257V|VPS41_ENST00000466017.1_5'UTR NM_014396.3 NP_055211.2 P49754 VPS41_HUMAN vacuolar protein sorting 41 homolog (S. cerevisiae) 282 Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 44 ACGAAAGTACAACAAGCTGAT 0.413000 13 35 0 0 1 0 0 HOXD12 3238 broad.mit.edu 37 2 176964654 176964654 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:176964654T>C ENST00000406506.2 + 1 197 c.125T>C c.(124-126)aTc>aCc p.I42T HOXD12_ENST00000404162.2_Missense_Mutation_p.I42T P35452 HXD12_HUMAN homeobox D12 42 GGQLAALPPISYPRG -> AASLAFPLSPTRA (in Ref. 1; AAF79044). nuclear chromosome sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1) 10 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678) CTTCCCCCTATCTCCTACCCG 0.711000 10 92 0 0 1 0 0 VPS37D 155382 broad.mit.edu 37 7 73085543 73085543 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:73085543T>C ENST00000324941.4 + 4 727 c.593T>C c.(592-594)gTc>gCc p.V198A VPS37D_ENST00000451519.1_Missense_Mutation_p.V113A NM_001077621.1 NP_001071089.1 Q86XT2 VP37D_HUMAN vacuolar protein sorting 37 homolog D (S. cerevisiae) 198 cellular membrane organization|endosome transport|protein transport late endosome membrane central_nervous_system(1)|ovary(1) 2 Lung NSC(55;0.0908)|all_lung(88;0.198) GCTGCAGCTGTCCTGCCCACT 0.741000 3 18 0 0 1 0 0 HRH2 3274 broad.mit.edu 37 5 175110408 175110408 + Missense_Mutation SNP G G A rs145250724 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:175110408G>A ENST00000231683.2 + 1 1945 c.172G>A c.(172-174)Gtg>Atg p.V58M HRH2_ENST00000377291.2_Missense_Mutation_p.V58M NM_022304.2 NP_071640.1 P25021 HRH2_HUMAN histamine receptor H2 58 G-protein signaling, coupled to cyclic nucleotide second messenger|immune response integral to plasma membrane histamine receptor activity breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1) 22 all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711) Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149) Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863) TTGTTTCATCGTGTCCTTGGC 0.587000 39 112 0 0 1 0 0 TRIM56 81844 broad.mit.edu 37 7 100732416 100732416 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:100732416C>T ENST00000306085.6 + 3 2120 c.1823C>T c.(1822-1824)gCg>gTg p.A608V NM_030961.1 NP_112223.1 Q9BRZ2 TRI56_HUMAN tripartite motif containing 56 608 defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon cytoplasm ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Lung NSC(181;0.136)|all_lung(186;0.182) GTCAGCGTGGCGGGCCACGTG 0.701000 56 132 0 0 1 0 0 ZIC1 7545 broad.mit.edu 37 3 147128060 147128060 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:147128060A>G ENST00000282928.4 + 1 890 c.161A>G c.(160-162)cAc>cGc p.H54R NM_003412.3 NP_003403.2 Q15915 ZIC1_HUMAN Zic family member 1 54 behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 63 CCCAGTTCGCACGAGCTGGCT 0.721000 26 62 0 0 1 0 0 KIAA1429 25962 broad.mit.edu 37 8 95507106 95507106 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:95507106T>C ENST00000297591.5 - 20 4698 c.4623A>G c.(4621-4623)atA>atG p.I1541M KIAA1429_ENST00000437199.1_3'UTR NM_015496.4 NP_056311.2 Q69YN4 VIR_HUMAN KIAA1429 1541 mRNA processing|RNA splicing nucleus NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) GATCTGTATCTATCTCTTCAG 0.323000 61 305 0 0 1 0 0 OXR1 55074 broad.mit.edu 37 8 107719358 107719358 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:107719358G>A ENST00000445937.1 + 9 1870 c.1609G>A c.(1609-1611)Gat>Aat p.D537N OXR1_ENST00000442977.2_Missense_Mutation_p.D538N|OXR1_ENST00000452423.2_Missense_Mutation_p.D27N|OXR1_ENST00000531443.1_Missense_Mutation_p.D537N|OXR1_ENST00000312046.6_Missense_Mutation_p.D530N|OXR1_ENST00000497705.1_Missense_Mutation_p.D470N|OXR1_ENST00000517566.2_Missense_Mutation_p.D537N NM_018002.3 NP_060472.2 Q8N573 OXR1_HUMAN oxidation resistance 1 538 cell wall macromolecule catabolic process|response to oxidative stress mitochondrion NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 31 OV - Ovarian serous cystadenocarcinoma(57;1.81e-09) TACATCTGCTGATGGACACAT 0.368000 11 71 0 0 1 0 0 GSG2 83903 broad.mit.edu 37 17 3627784 3627784 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:3627784T>C ENST00000325418.4 + 1 574 c.555T>C c.(553-555)agT>agC p.S185S ITGAE_ENST00000571185.1_5'UTR|ITGAE_ENST00000263087.4_Intron NM_031965.2 NP_114171.2 Q8TF76 HASP_HUMAN germ cell associated 2 (haspin) 185 cell cycle|chromatin modification|intracellular protein kinase cascade nucleus ATP binding|protein serine/threonine kinase activity CAAGGGACAGTGTCATCTCGA 0.682000 6 96 0 0 1 0 0 PCNT 5116 broad.mit.edu 37 21 47848441 47848441 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr21:47848441C>T ENST00000359568.5 + 35 7734 c.7627C>T c.(7627-7629)Cgc>Tgc p.R2543C PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 2543 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding p.R2543C(1) NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) GCAGCACTTGCGCACGGCGCT 0.692000 8 18 0 0 1 0 0 MYT1 4661 broad.mit.edu 37 20 62848555 62848555 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:62848555T>C ENST00000536311.1 + 11 2131 c.1767T>C c.(1765-1767)agT>agC p.S589S MYT1_ENST00000328439.1_Silent_p.S589S|MYT1_ENST00000360149.4_Silent_p.S291S Q01538 MYT1_HUMAN myelin transcription factor 1 589 cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) ACTACGCAAGTTTCGATGCTC 0.532000 7 129 0 0 1 0 0 EFCAB4A 283229 broad.mit.edu 37 11 828642 828642 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:828642C>T ENST00000450448.1 + 2 540 c.35C>T c.(34-36)gCc>gTc p.A12V EFCAB4A_ENST00000528542.2_Missense_Mutation_p.A12V|EFCAB4A_ENST00000525077.1_Missense_Mutation_p.A12V|AP006621.8_ENST00000532946.1_RNA NM_173584.3 NP_775855.3 Q8N4Y2 EFC4A_HUMAN EF-hand calcium binding domain 4A 12 store-operated calcium entry calcium ion binding endometrium(1)|large_intestine(1)|lung(1) 3 all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227) all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GCTGATGAGGCCCAGGAGGAG 0.632000 14 46 0 0 1 0 0 PITPNM2 57605 broad.mit.edu 37 12 123485615 123485615 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:123485615G>A ENST00000280562.5 - 8 1344 c.1139C>T c.(1138-1140)cCg>cTg p.P380L PITPNM2_ENST00000320201.4_Missense_Mutation_p.P380L|PITPNM2_ENST00000546049.1_Missense_Mutation_p.P418L|PITPNM2_ENST00000451868.2_5'UTR|PITPNM2_ENST00000542749.1_Missense_Mutation_p.P380L|PITPNM2_ENST00000392428.1_Missense_Mutation_p.P101L Q9BZ72 PITM2_HUMAN phosphatidylinositol transfer protein, membrane-associated 2 380 metabolic process|transport endomembrane system|integral to membrane|intracellular membrane-bounded organelle calcium ion binding|lipid binding NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 39 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123) TGTGTCTTCCGGCTCTGGGCT 0.592000 4 88 0 0 1 0 0 PGM2 55276 broad.mit.edu 37 4 37841857 37841857 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:37841857A>G ENST00000381967.4 + 6 795 c.695A>G c.(694-696)gAc>gGc p.D232G PGM2_ENST00000537241.1_Missense_Mutation_p.D72G|PGM2_ENST00000544359.1_Missense_Mutation_p.D93G NM_018290.3 NP_060760.2 Q96G03 PGM2_HUMAN phosphoglucomutase 2 232 glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1) 19 TACTTTGAAGACCTTAAAAAG 0.383000 24 75 0 0 1 0 0 DDX10 1662 broad.mit.edu 37 11 108593750 108593750 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:108593750G>A ENST00000526794.1 + 13 1558 c.1526G>A c.(1525-1527)cGc>cAc p.R509H DDX10_ENST00000322536.3_Missense_Mutation_p.R509H Q13206 DDX10_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 509 ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2) 27 all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729) BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133) GTGGCACCACGCGTAAGATTT 0.423000 T NUP98 AML* 13 38 0 0 1 0 0 NLRP7 199713 broad.mit.edu 37 19 55451630 55451630 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:55451630G>A ENST00000588756.1 - 6 1043 c.557C>T c.(556-558)aCg>aTg p.T186M NLRP7_ENST00000328092.5_Missense_Mutation_p.T186M|NLRP7_ENST00000592784.1_Missense_Mutation_p.T186M|NLRP7_ENST00000590030.1_Missense_Mutation_p.T186M|NLRP7_ENST00000340844.2_Missense_Mutation_p.T186M|NLRP7_ENST00000448121.2_Missense_Mutation_p.T186M|NLRP7_ENST00000446217.1_Missense_Mutation_p.T214M Q8WX94 NALP7_HUMAN NLR family, pyrin domain containing 7 186 NACHT. ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) TTTGGCCAGCGTGGTTTTCCC 0.572000 34 125 0 0 1 0 0 ZDHHC6 64429 broad.mit.edu 37 10 114192220 114192220 + Silent SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:114192220G>T ENST00000369405.3 - 9 1428 c.1005C>A c.(1003-1005)atC>atA p.I335I ZDHHC6_ENST00000369404.3_Silent_p.I331I|ZDHHC6_ENST00000482410.1_5'UTR NM_022494.1 NP_071939.1 Q9H6R6 ZDHC6_HUMAN zinc finger, DHHC-type containing 6 335 integral to membrane acyltransferase activity|zinc ion binding endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Colorectal(252;0.198) Epithelial(162;0.0291)|all cancers(201;0.117) AGAAGGTTTTGATTCCTTTAT 0.413000 29 100 9.39395e-14 9.81155e-14 1 1 0 ZNF331 55422 broad.mit.edu 37 19 54081079 54081079 + Missense_Mutation SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:54081079A>T ENST00000253144.9 + 7 2598 c.1265A>T c.(1264-1266)cAc>cTc p.H422L ZNF331_ENST00000513999.1_Missense_Mutation_p.H422L|ZNF331_ENST00000511593.2_Missense_Mutation_p.H422L|ZNF331_ENST00000512387.1_Missense_Mutation_p.H422L|ZNF331_ENST00000511154.1_Missense_Mutation_p.H422L|ZNF331_ENST00000449416.1_Missense_Mutation_p.H422L|ZNF331_ENST00000411977.2_Missense_Mutation_p.H422L NM_001253801.1|NM_018555.5 NP_001240730.1|NP_061025.5 Q9NQX6 ZN331_HUMAN zinc finger protein 331 422 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 10 GBM - Glioblastoma multiforme(134;0.00555) AGCTTTAGTCACGGCCATCAG 0.488000 T ? follicular thyroid adenoma 21 46 0 0 1 0 0 CTAGE5 4253 broad.mit.edu 37 14 39815160 39815160 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:39815160T>C ENST00000553728.1 + 25 3702 c.3489T>C c.(3487-3489)tgT>tgC p.C1163C CTAGE5_ENST00000557038.1_Silent_p.C548C|CTAGE5_ENST00000396158.2_Silent_p.C633C|CTAGE5_ENST00000348007.3_Silent_p.C585C|CTAGE5_ENST00000341749.3_Silent_p.C616C|CTAGE5_ENST00000553352.1_Silent_p.C599C|CTAGE5_ENST00000396165.4_Silent_p.C599C|CTAGE5_ENST00000341502.5_Silent_p.C628C|CTAGE5_ENST00000280083.3_Silent_p.C628C|RP11-407N17.3_ENST00000603904.1_Silent_p.C599C|CTAGE5_ENST00000556148.1_Silent_p.C553C ACAGATTTTGTTCTAATTCTG 0.333000 8 95 0 0 1 0 0 WHAMMP3 339005 broad.mit.edu 37 15 23205102 23205102 + RNA SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:23205102T>C ENST00000400153.2 - 0 752 NR_003521.1 AAGAACGTGGTTGCCACGGTA 0.378000 4 17 0 0 1 0 0 CCDC18 343099 broad.mit.edu 37 1 93691984 93691984 + Missense_Mutation SNP A A C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:93691984A>C ENST00000343253.7 + 17 2769 c.2267A>C c.(2266-2268)cAg>cCg p.Q756P CCDC18_ENST00000401026.3_Missense_Mutation_p.Q757P|CCDC18_ENST00000334652.5_Missense_Mutation_p.Q52P|CCDC18_ENST00000338949.4_Missense_Mutation_p.Q512P|CCDC18_ENST00000557479.1_Missense_Mutation_p.Q875P|CCDC18_ENST00000421014.2_3'UTR Q5T9S5 CCD18_HUMAN coiled-coil domain containing 18 756 breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 42 all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203) all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967) TTTGAAAAACAGTTAAAGAAG 0.289000 12 34 0 0 1 0 0 DLAT 1737 broad.mit.edu 37 11 111899652 111899652 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:111899652T>C ENST00000280346.6 + 4 1302 c.643T>C c.(643-645)Tat>Cat p.Y215H DLAT_ENST00000537636.1_Intron|DLAT_ENST00000393051.1_Missense_Mutation_p.Y215H NM_001931.4 NP_001922.2 P10515 ODP2_HUMAN dihydrolipoamide S-acetyltransferase 215 glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial pyruvate dehydrogenase complex dihydrolipoyllysine-residue acetyltransferase activity|protein binding breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1) 22 all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663) Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557) NADH(DB00157) TGGTAGCTCATATCCCCCTCA 0.527000 27 95 0 0 1 0 0 SETDB2 83852 broad.mit.edu 37 13 50035241 50035241 + Nonsense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr13:50035241C>T ENST00000354234.4 + 4 1057 c.151C>T c.(151-153)Caa>Taa p.Q51* SETDB2_ENST00000317257.8_Nonsense_Mutation_p.Q51*|SETDB2_ENST00000258672.5_Nonsense_Mutation_p.Q51* NM_001160308.1 NP_001153780.1 Q96T68 SETB2_HUMAN SET domain, bifurcated 2 51 cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent chromosome|nucleus DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 15 Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;3.1e-09) AGAATACATCCAAGCAATGAT 0.313000 29 104 0 0 1 0 0 CHRND 1144 broad.mit.edu 37 2 233392148 233392148 + Missense_Mutation SNP T T C rs121909509 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:233392148T>C ENST00000258385.3 + 3 268 c.236T>C c.(235-237)aTa>aCa p.I79T CHRND_ENST00000536614.1_Missense_Mutation_p.I79T|CHRND_ENST00000457943.2_5'UTR|CHRND_ENST00000543200.1_Intron NM_000751.2 NP_000742.1 Q07001 ACHD_HUMAN cholinergic receptor, nicotinic, delta (muscle) 79 muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1) 34 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754) AATGTGTGGATAGAGCACGTA 0.537000 32 89 0 0 1 0 0 JARID2 3720 broad.mit.edu 37 6 15496799 15496799 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:15496799A>G ENST00000341776.2 + 7 1587 c.1343A>G c.(1342-1344)cAc>cGc p.H448R JARID2_ENST00000541660.1_Missense_Mutation_p.H410R|JARID2_ENST00000397311.3_Missense_Mutation_p.H276R NM_004973.3 NP_004964.2 Q92833 JARD2_HUMAN jumonji, AT rich interactive domain 2 448 central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent chromatin binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1) 59 Breast(50;0.0142)|Ovarian(93;0.103) all_hematologic(90;0.00612) GAAGAGGCACACCAGGCGGAG 0.687000 11 27 0 0 1 0 0 PYGB 5834 broad.mit.edu 37 20 25271252 25271252 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:25271252G>A ENST00000216962.4 + 16 2073 c.1963G>A c.(1963-1965)Gag>Aag p.E655K NM_002862.3 NP_002853.2 P11216 PYGB_HUMAN phosphorylase, glycogen; brain 655 glucose metabolic process|glycogen catabolic process cytoplasm glycogen phosphorylase activity|pyridoxal phosphate binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 31 Pyridoxal Phosphate(DB00114) GTCCTTGGCTGAGAAAGGTAA 0.557000 37 166 0 0 1 0 0 RNF17 56163 broad.mit.edu 37 13 25376682 25376682 + Missense_Mutation SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr13:25376682A>T ENST00000255324.5 + 14 1974 c.1922A>T c.(1921-1923)gAt>gTt p.D641V RNF17_ENST00000381921.1_Missense_Mutation_p.D641V|RNF17_ENST00000255325.5_Missense_Mutation_p.D642V NM_001184993.1|NM_031277.2 NP_001171922.1|NP_112567.2 Q9BXT8 RNF17_HUMAN ring finger protein 17 641 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) TCTCTTAGAGATGCGCTAGTT 0.323000 10 97 0 0 1 0 0 ATAD3A 55210 broad.mit.edu 37 1 1458248 1458248 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:1458248C>T ENST00000378755.5 + 8 1113 c.1019C>T c.(1018-1020)aCg>aTg p.T340M ATAD3A_ENST00000378756.3_Missense_Mutation_p.T292M|ATAD3A_ENST00000536055.1_Missense_Mutation_p.T213M NM_018188.3 NP_060658.3 Q9NVI7 ATD3A_HUMAN ATPase family, AAA domain containing 3A 340 ATP binding|nucleoside-triphosphatase activity|protein binding endometrium(4)|kidney(6)|large_intestine(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1) 20 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147) TCCCGCATCACGGTGCTTGAG 0.662000 14 39 0 0 1 0 0 ZNF175 7728 broad.mit.edu 37 19 52076596 52076596 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:52076596T>C ENST00000262259.2 + 2 372 c.14T>C c.(13-15)gTg>gCg p.V5A ZNF175_ENST00000545217.1_Missense_Mutation_p.V5A|ZNF175_ENST00000596504.1_Missense_Mutation_p.V5A|ZNF175_ENST00000436511.2_Missense_Mutation_p.V5A NM_007147.2 NP_009078.1 Q9Y473 ZN175_HUMAN zinc finger protein 175 5 response to virus cytoplasm|intermediate filament cytoskeleton|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 24 all_neural(266;0.0299) GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257) CCTGCTGATGTGAATTTATCC 0.527000 5 188 0 0 1 0 0 UPF2 26019 broad.mit.edu 37 10 11998356 11998356 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:11998356A>G ENST00000356352.2 - 12 3010 c.2537T>C c.(2536-2538)gTg>gCg p.V846A UPF2_ENST00000397053.2_Missense_Mutation_p.V846A|UPF2_ENST00000357604.5_Missense_Mutation_p.V846A Q9HAU5 RENT2_HUMAN UPF2 regulator of nonsense transcripts homolog (yeast) 846 Binds to UPF3B.|MIF4G 3.|Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF3A and UPF3B. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay exon-exon junction complex|perinuclear region of cytoplasm identical protein binding|RNA binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2) 56 Renal(717;0.228) CACTCCATCCACAACGTGGAT 0.378000 26 86 0 0 1 0 0 PSG2 5670 broad.mit.edu 37 19 43575936 43575936 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:43575936T>C ENST00000406487.1 - 4 978 c.880A>G c.(880-882)Aag>Gag p.K294E NM_031246.3 NP_112536.2 P11465 PSG2_HUMAN pregnancy specific beta-1-glycoprotein 2 294 Ig-like C2-type 2. cell migration|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2) 49 Prostate(69;0.00682) CCGCTATGCTTTGTAGTAATT 0.468000 9 403 0 0 1 0 0 NOL4 8715 broad.mit.edu 37 18 31803104 31803104 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr18:31803104C>T ENST00000261592.5 - 1 411 c.114G>A c.(112-114)caG>caA p.Q38Q RP11-379L18.1_ENST00000587528.1_RNA|NOL4_ENST00000589544.1_Silent_p.Q38Q|NOL4_ENST00000269185.4_5'UTR NM_001198546.1|NM_003787.4 NP_001185475.1|NP_003778.2 O94818 NOL4_HUMAN nucleolar protein 4 38 nucleolus RNA binding NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 CATTGAGGAGCTGGACGATCC 0.577000 30 87 0 0 1 0 0 NRTN 4902 broad.mit.edu 37 19 5824275 5824275 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:5824275C>T ENST00000303212.2 + 1 463 c.99C>T c.(97-99)ctC>ctT p.L33L NM_004558.3 NP_004549.1 Q99748 NRTN_HUMAN neurturin 33 axon guidance|MAPKKK cascade|neural crest cell migration|transmembrane receptor protein tyrosine kinase signaling pathway extracellular region growth factor activity p.L33L(1) large_intestine(1) 1 GCCACCGCCTCGGACCTGCGC 0.672000 6 17 0 0 1 0 0 OR5AP2 338675 broad.mit.edu 37 11 56409225 56409225 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:56409225C>T ENST00000544374.1 - 1 722 c.694G>A c.(694-696)Gtc>Atc p.V232I OR5AP2_ENST00000302981.1_Missense_Mutation_p.V231I Q8NGF4 O5AP2_HUMAN olfactory receptor, family 5, subfamily AP, member 2 231 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 29 ATCTTCAAGACGGCAATGAAG 0.443000 45 143 0 0 1 0 0 NAP1L3 4675 broad.mit.edu 37 X 92927642 92927642 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chrX:92927642T>C ENST00000373079.3 - 1 925 c.662A>G c.(661-663)aAg>aGg p.K221R NAP1L3_ENST00000475430.1_5'UTR NM_004538.5 NP_004529.2 Q99457 NP1L3_HUMAN nucleosome assembly protein 1-like 3 221 Glu-rich. nucleosome assembly chromatin assembly complex haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 34 AGGAACTTCCTTTTCTTCATC 0.398000 13 56 0 0 1 0 0 UTP20 27340 broad.mit.edu 37 12 101757406 101757406 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:101757406A>G ENST00000261637.4 + 45 6017 c.5843A>G c.(5842-5844)cAg>cGg p.Q1948R NM_014503.2 NP_055318.2 O75691 UTP20_HUMAN UTP20, small subunit (SSU) processome component, homolog (yeast) 1948 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 GAAGTAAAGCAGATCCTCTCC 0.388000 19 62 0 0 1 0 0 ZNF527 84503 broad.mit.edu 37 19 37879903 37879903 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:37879903A>G ENST00000436120.2 + 5 1059 c.952A>G c.(952-954)Agt>Ggt p.S318G ZNF527_ENST00000587349.1_Intron NM_032453.1 NP_115829.1 Q8NB42 ZN527_HUMAN zinc finger protein 527 318 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 33 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CTTCTTTCTCAGTGAACATCA 0.403000 26 129 0 0 1 0 0 PNPT1 87178 broad.mit.edu 37 2 55914784 55914784 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:55914784A>G ENST00000447944.2 - 2 304 c.218T>C c.(217-219)gTa>gCa p.V73A NM_033109.3 NP_149100.2 Q8TCS8 PNPT1_HUMAN polyribonucleotide nucleotidyltransferase 1 73 mRNA catabolic process|RNA processing plasma membrane 3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1) 27 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) TTTTACCTGTACTACAGCAGA 0.323000 14 75 0 0 1 0 0 AKAP10 11216 broad.mit.edu 37 17 19861847 19861847 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:19861847T>C ENST00000225737.6 - 4 514 c.357A>G c.(355-357)aaA>aaG p.K119K AKAP10_ENST00000572155.1_5'UTR|AKAP10_ENST00000395536.3_Silent_p.K119K NM_007202.3 NP_009133.2 O43572 AKA10_HUMAN A kinase (PRKA) anchor protein 10 119 blood coagulation|protein localization cytosol|mitochondrion|plasma membrane signal transducer activity NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2) 21 all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165) AAAGGCTTGATTTGGTCTCTT 0.403000 20 60 0 0 1 0 0 MARK3 4140 broad.mit.edu 37 14 103923477 103923477 + Splice_Site SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:103923477A>G ENST00000429436.2 + 6 922 c.e6-1 MARK3_ENST00000561071.1_Intron|MARK3_ENST00000440884.3_Splice_Site|MARK3_ENST00000416682.2_Splice_Site|MARK3_ENST00000335102.5_Splice_Site|MARK3_ENST00000303622.9_Splice_Site|MARK3_ENST00000216288.7_Splice_Site|MARK3_ENST00000553942.1_Splice_Site NM_001128918.1|NM_001128919.1 NP_001122390.1|NP_001122391.1 P27448 MARK3_HUMAN MAP/microtubule affinity-regulating kinase 3 ATP binding|protein binding|protein serine/threonine kinase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 Melanoma(154;0.155) Epithelial(46;0.241) TCTCACCTATAGGTGAAGTAT 0.303000 21 42 0 0 1 0 0 ACSM2A 123876 broad.mit.edu 37 16 20482920 20482920 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:20482920A>G ENST00000573854.1 + 6 917 c.803A>G c.(802-804)aAc>aGc p.N268S ACSM2A_ENST00000536134.1_Missense_Mutation_p.N40S|ACSM2A_ENST00000219054.6_Missense_Mutation_p.N268S|ACSM2A_ENST00000417235.2_Missense_Mutation_p.N189S|ACSM2A_ENST00000575690.1_Missense_Mutation_p.N268S|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000396104.2_Missense_Mutation_p.N268S NM_001010845.2 NP_001010845.1 Q08AH3 ACS2A_HUMAN acyl-CoA synthetase medium-chain family member 2A 268 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1) 51 TGGATACTGAACATCTTGTGC 0.433000 48 192 0 0 1 0 0 JAM2 58494 broad.mit.edu 37 21 27086964 27086964 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr21:27086964A>G ENST00000480456.1 + 10 1427 c.877A>G c.(877-879)Aca>Gca p.T293A JAM2_ENST00000477351.1_3'UTR|JAM2_ENST00000312957.5_Missense_Mutation_p.T293A|JAM2_ENST00000425221.2_Missense_Mutation_p.T257A NM_001270407.1|NM_021219.3 NP_001257336.1|NP_067042.1 P57087 JAM2_HUMAN junctional adhesion molecule 2 293 DFKHTKSFII -> VQWLTPVIPALWKAAAGGSRGQEF (in Ref. 4; AAQ88727). blood coagulation|cell-cell adhesion|leukocyte migration integral to plasma membrane|tight junction endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1) 19 TTTCAAGCACACAAAATCCTT 0.279000 22 49 0 0 1 0 0 GART 2618 broad.mit.edu 37 21 34900476 34900476 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr21:34900476T>C ENST00000381831.3 - 10 1326 c.1063A>G c.(1063-1065)Aca>Gca p.T355A GART_ENST00000381815.4_Missense_Mutation_p.T355A|GART_ENST00000381839.3_Missense_Mutation_p.T355A|GART_ENST00000361093.5_Missense_Mutation_p.T355A NM_001136005.1 NP_001129477.1 P22102 PUR2_HUMAN phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase 355 'de novo' IMP biosynthetic process|purine base biosynthetic process cytosol ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1) 31 Pemetrexed(DB00642) CACTCACCTGTTATCTCTACA 0.512000 5 146 0 0 1 0 0 TRA2B 6434 broad.mit.edu 37 3 185636151 185636151 + Splice_Site SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:185636151A>G ENST00000453386.2 - 8 1132 c.e8+1 TRA2B_ENST00000382191.4_Splice_Site NM_004593.2 NP_004584.1 P62995 TRA2B_HUMAN transformer 2 beta homolog (Drosophila) nuclear mRNA splicing, via spliceosome nucleus nucleotide binding|protein binding|RNA binding breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1) 18 ATAAAAACTTACGAGGTGAGT 0.373000 22 71 0 0 1 0 0 WBP11 51729 broad.mit.edu 37 12 14940263 14940263 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:14940263A>G ENST00000261167.2 - 12 1895 c.1662T>C c.(1660-1662)atT>atC p.I554I WBP11_ENST00000537574.1_Silent_p.I520I NM_016312.2 NP_057396.1 Q9Y2W2 WBP11_HUMAN WW domain binding protein 11 554 mRNA processing|RNA splicing|rRNA processing cytoplasm single-stranded DNA binding|WW domain binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1) 30 CTTTCTTCTCAATGGTGGCTG 0.542000 26 996 0 0 1 0 0 TTC3 7267 broad.mit.edu 37 21 38462567 38462567 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr21:38462567T>C ENST00000399017.2 + 6 3208 c.461T>C c.(460-462)aTt>aCt p.I154T TTC3_ENST00000354749.2_Missense_Mutation_p.I154T|TTC3_ENST00000355666.1_Missense_Mutation_p.I154T|TTC3_ENST00000540756.1_Intron|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000399010.1_Missense_Mutation_p.I154T NM_003316.3 NP_003307.3 P53804 TTC3_HUMAN tetratricopeptide repeat domain 3 154 protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5) 75 Myeloproliferative disorder(46;0.0412) TTATTGAGAATTGGTTGTAAA 0.358000 15 34 0 0 1 0 0 NEMF 9147 broad.mit.edu 37 14 50295332 50295332 + Splice_Site SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:50295332A>G ENST00000298310.5 - 14 1874 c.e14+1 NEMF_ENST00000556925.1_Splice_Site|NEMF_ENST00000546046.1_Splice_Site|NEMF_ENST00000545773.1_Splice_Site O60524 NEMF_HUMAN nuclear export mediator factor cytoplasm|nucleus breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 36 TAAATGACTTACTTTTTGGCA 0.313000 32 62 0 0 1 0 0 BRPF1 7862 broad.mit.edu 37 3 9782627 9782627 + Splice_Site SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:9782627T>C ENST00000383829.2 + 4 2126 c.e4+2 BRPF1_ENST00000433861.2_Splice_Site|BRPF1_ENST00000424362.1_Splice_Site|BRPF1_ENST00000302054.3_Splice_Site|BRPF1_ENST00000457855.1_Splice_Site NM_001003694.1 NP_001003694.1 P55201 BRPF1_HUMAN bromodomain and PHD finger containing, 1 histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane DNA binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 49 Medulloblastoma(99;0.227) CAAGTTGGGGTACTGTGTCCA 0.537000 8 25 0 0 1 0 0 PLXNB3 5365 broad.mit.edu 37 X 153039011 153039011 + Missense_Mutation SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chrX:153039011A>T ENST00000538966.1 + 20 3462 c.3191A>T c.(3190-3192)gAc>gTc p.D1064V PLXNB3_ENST00000361971.5_Missense_Mutation_p.D1041V|PLXNB3_ENST00000538282.1_Missense_Mutation_p.D651V|PLXNB3_ENST00000538776.1_Missense_Mutation_p.D694V NM_001163257.1 NP_001156729.1 Q9ULL4 PLXB3_HUMAN plexin B3 1041 IPT/TIG 3. axon guidance integral to membrane|intracellular|plasma membrane protein binding|receptor activity central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) ACCGGCCTAGACGTGGTGCAG 0.687000 20 22 0 0 1 0 0 HSPA1L 3305 broad.mit.edu 37 6 31779499 31779499 + Missense_Mutation SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:31779499A>T ENST00000375654.4 - 2 440 c.251T>A c.(250-252)gTt>gAt p.V84D HSPA1L_ENST00000417199.3_Missense_Mutation_p.V84D NM_005527.3 NP_005518.3 P34931 HS71L_HUMAN heat shock 70kDa protein 1-like 84 response to unfolded protein ATP binding breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 TGCTTGTACAACAGGATCATT 0.443000 9 173 0 0 1 0 0 EHMT2 10919 broad.mit.edu 37 6 31860502 31860502 + Missense_Mutation SNP T T A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:31860502T>A ENST00000395728.3 - 5 847 c.848A>T c.(847-849)aAa>aTa p.K283I EHMT2_ENST00000375528.4_Missense_Mutation_p.K283I|EHMT2_ENST00000375530.4_Missense_Mutation_p.K226I|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375537.4_Missense_Mutation_p.K226I Q96KQ7 EHMT2_HUMAN euchromatic histone-lysine N-methyltransferase 2 226 DNA methylation|peptidyl-lysine dimethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1) 21 CTTCCTCCTTTTGGCCAGATC 0.602000 7 136 0 0 1 0 0 SPIRE2 84501 broad.mit.edu 37 16 89916916 89916916 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:89916916G>A ENST00000378247.3 + 3 536 c.493G>A c.(493-495)Gtg>Atg p.V165M SPIRE2_ENST00000393062.2_Missense_Mutation_p.V165M|SPIRE2_ENST00000564878.1_3'UTR NM_032451.1 NP_115827.1 Q8WWL2 SPIR2_HUMAN spire-type actin nucleation factor 2 165 KIND. transport cytoplasm|cytoskeleton actin binding central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0286) CCCCCGCAGCGTGCGCACCTT 0.736000 5 7 0 0 1 0 0 PTK2 5747 broad.mit.edu 37 8 141889621 141889621 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:141889621A>G ENST00000522684.1 - 4 540 c.311T>C c.(310-312)gTc>gCc p.V104A PTK2_ENST00000340930.3_Missense_Mutation_p.V104A|PTK2_ENST00000517887.1_Missense_Mutation_p.V148A|PTK2_ENST00000521059.1_Missense_Mutation_p.V104A|PTK2_ENST00000519881.1_Missense_Mutation_p.V104A|PTK2_ENST00000535192.1_Missense_Mutation_p.V104A|PTK2_ENST00000395218.2_Missense_Mutation_p.V104A|PTK2_ENST00000519419.1_Missense_Mutation_p.V148A|PTK2_ENST00000520892.1_Missense_Mutation_p.V104A NM_153831.3 NP_722560.1 Q05397 FAK1_HUMAN protein tyrosine kinase 2 104 FERM. axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly cytoskeleton|cytosol|focal adhesion ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 48 all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;2.72e-05)|Breast(495;0.159) BRCA - Breast invasive adenocarcinoma(115;0.137) CACACTGGAGACGCCCATATC 0.502000 124 372 0 0 1 0 0 TCERG1 10915 broad.mit.edu 37 5 145838817 145838817 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:145838817T>C ENST00000296702.5 + 4 847 c.809T>C c.(808-810)gTa>gCa p.V270A TCERG1_ENST00000394421.2_Missense_Mutation_p.V270A NM_006706.3 NP_006697.2 O14776 TCRG1_HUMAN transcription elongation regulator 1 270 Thr-rich. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1) 46 Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GCACCTGCAGTATCCACTTCA 0.557000 4 213 0 0 1 0 0 PCM1 5108 broad.mit.edu 37 8 17822142 17822142 + Missense_Mutation SNP A A C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:17822142A>C ENST00000325083.8 + 18 3159 c.2720A>C c.(2719-2721)tAc>tCc p.Y907S PCM1_ENST00000519253.1_Missense_Mutation_p.Y907S|PCM1_ENST00000524226.1_Missense_Mutation_p.Y908S NM_006197.3 NP_006188.3 Q15154 PCM1_HUMAN pericentriolar material 1 907 centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome centriolar satellite|cytosol|nuclear membrane|pericentriolar material identical protein binding PCM1/JAK2(30) breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 48 Colorectal(111;0.0789) GAAGACGGTTACCTTTCTGAA 0.428000 T """RET, JAK2""" """papillary thyroid, CML, MPD""" 5 89 0 0 1 0 0 FLNB 2317 broad.mit.edu 37 3 58090906 58090906 + Missense_Mutation SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:58090906C>A ENST00000357272.4 + 11 1875 c.1710C>A c.(1708-1710)ttC>ttA p.F570L FLNB_ENST00000348383.5_Missense_Mutation_p.F570L|FLNB_ENST00000429972.2_Missense_Mutation_p.F570L|FLNB_ENST00000358537.3_Missense_Mutation_p.F570L|FLNB_ENST00000493452.1_Missense_Mutation_p.F401L|FLNB_ENST00000295956.4_Missense_Mutation_p.F570L|FLNB_ENST00000490882.1_Missense_Mutation_p.F570L|FLNB_ENST00000419752.2_Missense_Mutation_p.F401L O75369 FLNB_HUMAN filamin B, beta 570 actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) CAGCGGACTTCGTGGTAGAAT 0.582000 29 98 6.07407e-21 6.40789e-21 1 1 0 ADSL 158 broad.mit.edu 37 22 40759036 40759036 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr22:40759036G>A ENST00000216194.7 + 10 1118 c.1062G>A c.(1060-1062)acG>acA p.T354T ADSL_ENST00000342312.6_Silent_p.T354T|ADSL_ENST00000454266.2_Silent_p.T368T NM_000026.2 NP_000017.1 P30566 PUR8_HUMAN adenylosuccinate lyase 354 AMP biosynthetic process|protein tetramerization|purine base metabolic process cytosol (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1) 19 TATTGAATACGCTGCAGAACA 0.408000 38 132 0 0 1 0 0 FCGR3B 2215 broad.mit.edu 37 1 161600913 161600913 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:161600913A>G ENST00000531221.1 - 1 83 c.80T>C c.(79-81)tTg>tCg p.L27S FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000367962.4_Intron|FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000403078.3_Intron|FCGR3B_ENST00000367964.2_5'UTR|FCGR3B_ENST00000294800.3_5'UTR|FCGR3A_ENST00000540048.1_5'UTR O75015 FCG3B_HUMAN Fc fragment of IgG, low affinity IIIb, receptor (CD16b) 0 immune response anchored to membrane|extracellular region|plasma membrane IgG binding|receptor activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1) 18 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) ACAAGTCACCAAAGATATCCG 0.552000 9 35 0 0 1 0 0 RENBP 5973 broad.mit.edu 37 X 153205600 153205600 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chrX:153205600C>T ENST00000393700.3 - 9 1112 c.1032G>A c.(1030-1032)gtG>gtA p.V344V RENBP_ENST00000412763.1_3'UTR|RENBP_ENST00000369997.3_Silent_p.V330V NM_002910.5 NP_002901.2 P51606 RENBP_HUMAN renin binding protein 344 mannose metabolic process|regulation of blood pressure endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 20 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) N-Acetyl-D-glucosamine(DB00141) GGCGCAGCAGCACAGGGTCCC 0.597000 29 31 0 0 1 0 0 MYBPC3 4607 broad.mit.edu 37 11 47356682 47356682 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:47356682C>T ENST00000399249.2 - 26 2870 c.2816G>A c.(2815-2817)cGg>cAg p.R939Q MYBPC3_ENST00000256993.4_Missense_Mutation_p.R938Q|MYBPC3_ENST00000545968.1_Missense_Mutation_p.R939Q Q14896 MYPC3_HUMAN myosin binding protein C, cardiac 938 Fibronectin type-III 2. cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis C zone|cytosol|striated muscle myosin thick filament actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2) 42 Lung(87;0.176) GAAAAGCAGCCGGGCCCCCGT 0.672000 14 44 0 0 1 0 0 RBP3 5949 broad.mit.edu 37 10 48387850 48387850 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:48387850G>A ENST00000224600.4 - 1 3141 c.3028C>T c.(3028-3030)Cgc>Tgc p.R1010C NM_002900.2 NP_002891.1 P10745 RET3_HUMAN retinol binding protein 3, interstitial 1010 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) CCAGGAATGCGGTCCTTGGCA 0.602000 30 107 0 0 1 0 0 NKIRAS1 28512 broad.mit.edu 37 3 23942526 23942526 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:23942526C>T ENST00000443659.2 - 3 886 c.109G>A c.(109-111)Gaa>Aaa p.E37K NKIRAS1_ENST00000415901.2_Missense_Mutation_p.E37K|NKIRAS1_ENST00000388759.3_Missense_Mutation_p.E37K|NKIRAS1_ENST00000412028.1_Missense_Mutation_p.E37K|NKIRAS1_ENST00000416026.2_Missense_Mutation_p.E37K|NKIRAS1_ENST00000425478.2_Missense_Mutation_p.E37K|NKIRAS1_ENST00000437230.1_Missense_Mutation_p.E37K|NKIRAS1_ENST00000421515.2_Missense_Mutation_p.E37K Q9NYS0 KBRS1_HUMAN NFKB inhibitor interacting Ras-like 1 37 I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction cytoplasm GTP binding|GTPase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1) 7 TCCATTGTTTCGCAATCTTCC 0.398000 43 146 0 0 1 0 0 CREB5 9586 broad.mit.edu 37 7 28848871 28848871 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:28848871G>A ENST00000357727.2 + 9 1484 c.1094G>A c.(1093-1095)cGc>cAc p.R365H CREB5_ENST00000396298.2_Missense_Mutation_p.R226H|CREB5_ENST00000396300.2_Missense_Mutation_p.R358H|CREB5_ENST00000409603.1_Missense_Mutation_p.R332H|CREB5_ENST00000396299.2_Missense_Mutation_p.R332H NM_182898.2 NP_878901.2 Q02930 CREB5_HUMAN cAMP responsive element binding protein 5 365 positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3) 32 ACAGGGGGGCGCCGGCGAAGG 0.632000 31 92 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168101908 168101908 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:168101908A>G ENST00000409195.1 + 9 4095 c.4006A>G c.(4006-4008)Aca>Gca p.T1336A XIRP2_ENST00000409273.1_Missense_Mutation_p.T1114A|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.T1336A|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 1161 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 TGAAGTGACCACAGTTAAAAA 0.388000 4 81 0 0 1 0 0 FAM71A 149647 broad.mit.edu 37 1 212799452 212799452 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:212799452G>A ENST00000294829.3 + 1 1664 c.1233G>A c.(1231-1233)gaG>gaA p.E411E RP11-338C15.5_ENST00000427949.1_RNA NM_153606.3 NP_705834.2 Q8IYT1 FA71A_HUMAN family with sequence similarity 71, member A 411 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094) ATGGAAGGGAGCGAACCCAGG 0.622000 20 72 0 0 1 0 0 SH3PXD2A 9644 broad.mit.edu 37 10 105362410 105362410 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:105362410C>T ENST00000369774.4 - 15 2841 c.2565G>A c.(2563-2565)caG>caA p.Q855Q SH3PXD2A_ENST00000540321.1_Silent_p.Q722Q|SH3PXD2A_ENST00000538130.1_Silent_p.Q690Q|SH3PXD2A_ENST00000355946.2_Silent_p.Q827Q|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000315994.6_5'UTR Q5TCZ1 SPD2A_HUMAN SH3 and PX domains 2A 855 SH3 4. cell communication|superoxide metabolic process cell junction|cell projection|cytoplasm|podosome phosphatidylinositol binding|protein binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1) 38 Colorectal(252;0.0815)|Breast(234;0.131) Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119) TCTCCGAGTCCTGGACCTTCT 0.632000 32 78 0 0 1 0 0 SMTNL1 219537 broad.mit.edu 37 11 57310215 57310215 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:57310215A>G ENST00000457912.1 + 2 154 c.154A>G c.(154-156)Acc>Gcc p.T52A SMTNL1_ENST00000399154.2_Missense_Mutation_p.T34A|SMTNL1_ENST00000527972.1_Missense_Mutation_p.T34A E9PPJ3 E9PPJ3_HUMAN smoothelin-like 1 34 endometrium(2)|large_intestine(1)|lung(4)|ovary(1) 8 TGCAGAGGAGACCAAAGGCAC 0.597000 13 28 0 0 1 0 0 PLEC 5339 broad.mit.edu 37 8 145001740 145001740 + Silent SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:145001740C>A ENST00000322810.4 - 27 4174 c.4005G>T c.(4003-4005)cgG>cgT p.R1335R PLEC_ENST00000527096.1_Silent_p.R1221R|PLEC_ENST00000356346.3_Silent_p.R1184R|PLEC_ENST00000436759.2_Silent_p.R1225R|PLEC_ENST00000357649.2_Silent_p.R1202R|PLEC_ENST00000354589.3_Silent_p.R1198R|PLEC_ENST00000398774.2_Silent_p.R1166R|PLEC_ENST00000345136.3_Silent_p.R1198R|PLEC_ENST00000354958.2_Silent_p.R1176R NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 1335 Globular 1. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 GCTCGCGCTGCCGCACGTCGG 0.731000 3 26 0.004672 0.00470748 1 1 0 GPRIN2 9721 broad.mit.edu 37 10 46998978 46998978 + Missense_Mutation SNP G G A rs151134434 byFrequency TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:46998978G>A ENST00000374314.4 + 1 1053 c.98G>A c.(97-99)cGg>cAg p.R33Q GPRIN2_ENST00000374317.1_Missense_Mutation_p.R33Q O60269 GRIN2_HUMAN G protein regulated inducer of neurite outgrowth 2 33 breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1) 18 GGTGAAGGCCGGGAACAGAGG 0.721000 24 84 0 0 1 0 0 KCNA3 3738 broad.mit.edu 37 1 111217120 111217120 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:111217120C>T ENST00000369769.2 - 1 535 c.312G>A c.(310-312)gaG>gaA p.E104E NM_002232.3 NP_002223.3 P22001 KCNA3_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 3 104 voltage-gated potassium channel complex delayed rectifier potassium channel activity endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1) 38 all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133) TGACCACGCGCTCCCCGCAGC 0.726000 17 64 0 0 1 0 0 MYH1 4619 broad.mit.edu 37 17 10411938 10411938 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:10411938T>C ENST00000226207.5 - 16 1733 c.1639A>G c.(1639-1641)Aca>Gca p.T547A CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 547 Myosin head-like. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 GAGGTGTCTGTCGCCTTGGGG 0.463000 4 133 0 0 1 0 0 RIF1 55183 broad.mit.edu 37 2 152318798 152318798 + Missense_Mutation SNP A A C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:152318798A>C ENST00000243326.4 + 27 3753 c.3270A>C c.(3268-3270)caA>caC p.Q1090H RIF1_ENST00000430328.2_Missense_Mutation_p.Q1090H|RIF1_ENST00000453091.2_Missense_Mutation_p.Q1090H|RIF1_ENST00000444746.2_Missense_Mutation_p.Q1090H|RIF1_ENST00000428287.2_Missense_Mutation_p.Q1090H Q5UIP0 RIF1_HUMAN RAP1 interacting factor homolog (yeast) 1090 cell cycle|response to DNA damage stimulus chromosome, telomeric region|cytoplasm|nucleus|spindle binding NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 97 BRCA - Breast invasive adenocarcinoma(221;0.0429) ATGTTTCCCAAGATACCTTAT 0.284000 14 45 0 0 1 0 0 DZIP1 22873 broad.mit.edu 37 13 96293612 96293612 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr13:96293612T>C ENST00000347108.3 - 3 966 c.534A>G c.(532-534)aaA>aaG p.K178K DZIP1_ENST00000361396.2_Silent_p.K178K|DZIP1_ENST00000466027.1_5'UTR|DZIP1_ENST00000376829.2_Silent_p.K178K|DZIP1_ENST00000361156.3_Silent_p.K178K Q86YF9 DZIP1_HUMAN DAZ interacting zinc finger protein 1 178 germ cell development|multicellular organismal development|spermatogenesis cytoplasm|nucleus nucleic acid binding|protein binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1) 38 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.141) TCTTCCGGCGTTTGCACTCTT 0.577000 5 59 0 0 1 0 0 MROH2B 133558 broad.mit.edu 37 5 41058281 41058281 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:41058281C>T ENST00000399564.4 - 7 1090 c.640G>A c.(640-642)Ggg>Agg p.G214R MROH2B_ENST00000506092.2_5'UTR NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B ACCGTGGGCCCGTGGGCCTTA 0.502000 16 35 0 0 1 0 0 GUCY2F 2986 broad.mit.edu 37 X 108636205 108636205 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chrX:108636205A>G ENST00000218006.2 - 13 2795 c.2504T>C c.(2503-2505)tTg>tCg p.L835S NM_001522.2 NP_001513.2 P51841 GUC2F_HUMAN guanylate cyclase 2F, retinal 835 intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1) 67 CAAATCTTCCAAGTTGCTAGA 0.373000 25 104 0 0 1 0 0 NRD1 4898 broad.mit.edu 37 1 52280401 52280401 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:52280401A>G ENST00000354831.7 - 14 1917 c.1728T>C c.(1726-1728)atT>atC p.I576I NRD1_ENST00000539524.1_Silent_p.I444I|NRD1_ENST00000544028.1_Silent_p.I376I|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000352171.7_Silent_p.I508I NM_002525.2 NP_002516.2 O43847 NRDC_HUMAN nardilysin (N-arginine dibasic convertase) 507 cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity cell surface|cytosol epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1) 27 CAGTCAATGTAATAGAAATGC 0.348000 7 29 0 0 1 0 0 UNC79 57578 broad.mit.edu 37 14 94155029 94155029 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:94155029T>C ENST00000553484.1 + 46 7265 c.7111T>C c.(7111-7113)Tcc>Ccc p.S2371P UNC79_ENST00000555664.1_Missense_Mutation_p.S2310P|UNC79_ENST00000256339.4_Missense_Mutation_p.S2172P|UNC79_ENST00000393151.2_Missense_Mutation_p.S2349P Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 2349 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 GAAGACATGTTCCCAGCCTCT 0.483000 8 84 0 0 1 0 0 CTTN 2017 broad.mit.edu 37 11 70253658 70253658 + Missense_Mutation SNP C C G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:70253658C>G ENST00000346329.3 + 4 430 c.122C>G c.(121-123)gCc>gGc p.A41G CTTN_ENST00000527622.1_3'UTR|CTTN_ENST00000376561.3_Missense_Mutation_p.A41G|CTTN_ENST00000301843.8_Missense_Mutation_p.A41G NM_138565.2 NP_612632.1 Q14247 SRC8_HUMAN cortactin 41 cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction protein binding breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 31 BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513) Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133) AGATGGGGTGCCAAGACGGTG 0.572000 4 125 0 0 1 0 0 PCDH11X 27328 broad.mit.edu 37 X 91090570 91090570 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chrX:91090570G>A ENST00000373094.1 + 1 912 c.67G>A c.(67-69)Gcc>Acc p.A23T PCDH11X_ENST00000298274.8_Missense_Mutation_p.A23T|PCDH11X_ENST00000504220.1_Missense_Mutation_p.A23T|PCDH11X_ENST00000406881.1_Missense_Mutation_p.A23T|PCDH11X_ENST00000373097.1_Missense_Mutation_p.A23T|PCDH11X_ENST00000395337.2_Missense_Mutation_p.A23T|PCDH11X_ENST00000373088.1_Missense_Mutation_p.A23T|PCDH11X_ENST00000361724.1_Missense_Mutation_p.A23T|PCDH11X_ENST00000361655.2_Missense_Mutation_p.A23T NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 23 homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 CCACTCTGGCGCCCAGGAGAA 0.473000 24 33 0 0 1 0 0 LRRC8A 56262 broad.mit.edu 37 9 131669814 131669814 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:131669814A>G ENST00000259324.5 + 3 894 c.371A>G c.(370-372)tAc>tGc p.Y124C LRRC8A_ENST00000372600.4_Missense_Mutation_p.Y124C|LRRC8A_ENST00000372599.3_Missense_Mutation_p.Y124C NM_001127244.1 NP_001120716.1 Q8IWT6 LRC8A_HUMAN leucine rich repeat containing 8 family, member A 124 pre-B cell differentiation integral to membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3) 28 TTTGCCAAGTACTTCCCCTAC 0.567000 35 125 0 0 1 0 0 ZNF302 55900 broad.mit.edu 37 19 35175530 35175530 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:35175530T>C ENST00000505242.1 + 5 1082 c.588T>C c.(586-588)aaT>aaC p.N196N ZNF302_ENST00000505365.2_3'UTR|ZNF302_ENST00000457781.2_Silent_p.N196N|ZNF302_ENST00000446502.2_Silent_p.N240N|ZNF302_ENST00000423823.2_Silent_p.N196N Q9NR11 ZN302_HUMAN zinc finger protein 302 275 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(1)|large_intestine(2)|lung(2)|skin(1) 6 all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) AGACTTGTAATAGAGAGAAAA 0.413000 4 227 0 0 1 0 0 TLR8 51311 broad.mit.edu 37 X 12939677 12939677 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chrX:12939677A>G ENST00000218032.6 + 2 2605 c.2518A>G c.(2518-2520)Acc>Gcc p.T840A TLR8_ENST00000311912.5_Missense_Mutation_p.T858A NM_138636.4 NP_619542.1 Q9NR97 TLR8_HUMAN toll-like receptor 8 840 cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process endosome membrane DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 CTTTATCACCACCATGGTTAT 0.403000 7 107 0 0 1 0 0 SRGAP1 57522 broad.mit.edu 37 12 64458997 64458997 + Missense_Mutation SNP G G C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:64458997G>C ENST00000355086.3 + 8 1647 c.1123G>C c.(1123-1125)Gag>Cag p.E375Q RP11-196H14.2_ENST00000535594.1_RNA|SRGAP1_ENST00000543397.1_Missense_Mutation_p.E335Q|SRGAP1_ENST00000357825.3_Missense_Mutation_p.E375Q NM_020762.2 NP_065813.1 Q7Z6B7 SRGP1_HUMAN SLIT-ROBO Rho GTPase activating protein 1 375 axon guidance cytosol breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 65 GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225) GBM - Glioblastoma multiforme(28;0.0608) CGAGAATGAAGAGGTGAGCAT 0.488000 8 17 0 0 1 0 0 GPR22 2845 broad.mit.edu 37 7 107115416 107115416 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:107115416G>A ENST00000304402.4 + 3 2254 c.911G>A c.(910-912)cGa>cAa p.R304Q COG5_ENST00000475638.2_Intron|COG5_ENST00000347053.3_Intron|COG5_ENST00000393603.2_Intron|COG5_ENST00000297135.3_Intron NM_005295.2 NP_005286.2 Q99680 GPR22_HUMAN G protein-coupled receptor 22 304 integral to plasma membrane G-protein coupled receptor activity large_intestine(3)|lung(6)|ovary(2)|stomach(1) 12 CACCGTGAACGACGAGAAAGA 0.398000 16 71 0 0 1 0 0 PCDH9 5101 broad.mit.edu 37 13 67801644 67801644 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr13:67801644C>T ENST00000544246.1 - 2 1620 c.929G>A c.(928-930)gGg>gAg p.G310E PCDH9_ENST00000328454.5_Missense_Mutation_p.G310E|PCDH9_ENST00000456367.1_Missense_Mutation_p.G310E|PCDH9_ENST00000377861.3_Missense_Mutation_p.G310E|PCDH9_ENST00000377865.2_Missense_Mutation_p.G310E NM_203487.2 NP_982354.1 Q9HC56 PCDH9_HUMAN protocadherin 9 310 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 103 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) TGTAATCAGCCCAGTAGTATT 0.483000 35 103 0 0 1 0 0 LYSMD4 145748 broad.mit.edu 37 15 100272104 100272104 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:100272104T>C ENST00000344791.2 - 3 285 c.13A>G c.(13-15)Act>Gct p.T5A LYSMD4_ENST00000545021.1_5'UTR|LYSMD4_ENST00000409796.1_Missense_Mutation_p.D34G|LYSMD4_ENST00000604213.1_Intron|LYSMD4_ENST00000332728.4_Missense_Mutation_p.D34G NM_152449.2 NP_689662.2 Q5XG99 LYSM4_HUMAN LysM, putative peptidoglycan-binding, domain containing 4 0 cell wall macromolecule catabolic process integral to membrane breast(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(3)|stomach(1) 10 Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163) OV - Ovarian serous cystadenocarcinoma(32;0.00162)|LUSC - Lung squamous cell carcinoma(107;0.17)|Lung(145;0.208) GTCCCCCGAGTCCCCACTGCC 0.587000 7 30 0 0 1 0 0 PRKCZ 5590 broad.mit.edu 37 1 2082410 2082410 + Missense_Mutation SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:2082410A>T ENST00000400921.2 + 6 1003 c.320A>T c.(319-321)gAt>gTt p.D107V PRKCZ_ENST00000479263.1_3'UTR|PRKCZ_ENST00000400920.1_Missense_Mutation_p.D107V NM_001033581.1 NP_001028753.1 Q05513 KPCZ_HUMAN protein kinase C, zeta 290 Interaction with SQSTM1 (By similarity). anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation endosome ATP binding|protein kinase C activity|zinc ion binding breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1) 18 all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213) CTGGTGCATGATGACGAGGTA 0.597000 15 55 0 0 1 0 0 PTPRD 5789 broad.mit.edu 37 9 8331712 8331712 + Nonsense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:8331712G>A ENST00000381196.4 - 41 5947 c.5404C>T c.(5404-5406)Cag>Tag p.Q1802* PTPRD_ENST00000355233.5_Nonsense_Mutation_p.Q1396*|PTPRD_ENST00000540109.1_Nonsense_Mutation_p.Q1802*|PTPRD_ENST00000360074.4_Nonsense_Mutation_p.Q1789*|PTPRD_ENST00000537002.1_Nonsense_Mutation_p.Q1392*|PTPRD_ENST00000358503.5_Nonsense_Mutation_p.Q1780*|PTPRD_ENST00000486161.1_Nonsense_Mutation_p.Q1395*|PTPRD_ENST00000356435.5_Nonsense_Mutation_p.Q1802*|PTPRD_ENST00000397606.3_Nonsense_Mutation_p.Q1395*|PTPRD_ENST00000397611.3_Nonsense_Mutation_p.Q1392*|PTPRD_ENST00000397617.3_Nonsense_Mutation_p.Q1395* NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1802 Tyrosine-protein phosphatase 2. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) AACTGGAACTGCCTTACTGTT 0.507000 TSP Lung(15;0.13) 23 49 0 0 1 0 0 GPR63 81491 broad.mit.edu 37 6 97246427 97246427 + Missense_Mutation SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:97246427G>T ENST00000229955.3 - 2 1526 c.1181C>A c.(1180-1182)cCg>cAg p.P394Q GPR63_ENST00000417980.1_Missense_Mutation_p.P394Q NM_001143957.2|NM_030784.3 NP_001137429.1|NP_110411.1 Q9BZJ6 GPR63_HUMAN G protein-coupled receptor 63 394 integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721) BRCA - Breast invasive adenocarcinoma(108;0.0912) AGGGAGCTGCGGCAAAAACTT 0.483000 24 80 4.72057e-08 4.86287e-08 1 1 0 C6orf165 154313 broad.mit.edu 37 6 88138459 88138459 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:88138459T>C ENST00000507897.1 + 9 1159 c.1076T>C c.(1075-1077)cTa>cCa p.L359P C6ORF165_ENST00000369562.4_Missense_Mutation_p.L359P Q8IYR0 CF165_HUMAN chromosome 6 open reading frame 165 359 NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0419) GCTCACGAACTATACTTTCCT 0.413000 5 129 0 0 1 0 0 MAP2 4133 broad.mit.edu 37 2 210558823 210558823 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:210558823T>C ENST00000360351.4 + 7 2435 c.1929T>C c.(1927-1929)agT>agC p.S643S MAP2_ENST00000199940.6_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Silent_p.S639S NM_002374.3 NP_002365.3 P11137 MAP2_HUMAN microtubule-associated protein 2 643 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 124 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) TCGCACAGAGTTATCCATCAG 0.448000 21 59 0 0 1 0 0 PCDHGB3 56102 broad.mit.edu 37 5 140751974 140751974 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:140751974A>G ENST00000576222.1 + 1 2144 c.2013A>G c.(2011-2013)atA>atG p.I671M PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron NM_018924.2|NM_032097.1 NP_061747.1|NP_115268.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCAAGAGATACAACCTGACC 0.582000 7 163 0 0 1 0 0 FRG1BP 284802 broad.mit.edu 37 20 29628301 29628301 + Missense_Mutation SNP T T A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:29628301T>A ENST00000278882.3 + 6 683 c.303T>A c.(301-303)agT>agA p.S101R FRG1B_ENST00000439954.2_Missense_Mutation_p.S106R|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101R endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AAGCAAAAAGTAAAACAGCAG 0.353000 4 90 0 0 1 0 0 KIF21B 23046 broad.mit.edu 37 1 200954079 200954079 + Silent SNP T T A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:200954079T>A ENST00000332129.2 - 27 4027 c.3711A>T c.(3709-3711)acA>acT p.T1237T KIF21B_ENST00000461742.2_Silent_p.T1237T|KIF21B_ENST00000360529.5_Silent_p.T1237T|KIF21B_ENST00000422435.2_Silent_p.T1237T NM_001252102.1|NM_001252103.1|NM_017596.3 NP_001239031.1|NP_001239032.1|NP_060066.2 O75037 KI21B_HUMAN kinesin family member 21B 1237 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 ATGATGGGGGTGTGAATCCCA 0.607000 14 63 0 0 1 0 0 SUGP1 57794 broad.mit.edu 37 19 19414550 19414550 + Missense_Mutation SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:19414550C>A ENST00000247001.5 - 5 992 c.645G>T c.(643-645)aaG>aaT p.K215N SUGP1_ENST00000585763.1_Intron NM_172231.3 NP_757386.2 Q8IWZ8 SUGP1_HUMAN SURP and G patch domain containing 1 215 nuclear mRNA splicing, via spliceosome nucleoplasm|spliceosomal complex RNA binding NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2) 22 CTGGGTTATCCTTGTAGTCCT 0.552000 104 322 7.59261e-44 8.05509e-44 1 1 0 ITFG2 55846 broad.mit.edu 37 12 2933264 2933264 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:2933264G>A ENST00000228799.2 + 12 1388 c.1249G>A c.(1249-1251)Gac>Aac p.D417N ITFG2_ENST00000542548.1_Missense_Mutation_p.D305N|ITFG2_ENST00000419778.2_Missense_Mutation_p.D240N NM_018463.3 NP_060933.3 Q969R8 ITFG2_HUMAN integrin alpha FG-GAP repeat containing 2 417 central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2) 19 OV - Ovarian serous cystadenocarcinoma(31;0.000818) AGATCCTGACGACCTCCCTGT 0.617000 7 219 0 0 1 0 0 POC1A 25886 broad.mit.edu 37 3 52109924 52109924 + Silent SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:52109924G>T ENST00000394970.2 - 10 1376 c.1059C>A c.(1057-1059)atC>atA p.I353I POC1A_ENST00000474012.1_Silent_p.I363I|POC1A_ENST00000296484.2_Silent_p.I401I NM_001161580.1 NP_001155052.1 Q8NBT0 POC1A_HUMAN POC1 centriolar protein A 401 centriole|microtubule basal body endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1) 14 CTCTCTGCATGATTAGCTGCT 0.512000 46 171 9.22156e-22 9.73746e-22 1 1 0 CROCC 9696 broad.mit.edu 37 1 17265455 17265455 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:17265455A>G ENST00000375541.5 + 12 1495 c.1426A>G c.(1426-1428)Acc>Gcc p.T476A CROCC_ENST00000467938.1_3'UTR NM_014675.3 NP_055490.3 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil, rootletin 476 cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1) 62 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) CTCTGAGCGCACCGCGGATGC 0.726000 14 70 0 0 1 0 0 THY1 7070 broad.mit.edu 37 11 119290893 119290893 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:119290893T>C ENST00000284240.5 - 3 1280 c.241A>G c.(241-243)Acc>Gcc p.T81A THY1_ENST00000527590.1_5'UTR|USP2-AS1_ENST00000530002.1_RNA|USP2-AS1_ENST00000498979.2_RNA|USP2-AS1_ENST00000500970.1_RNA|USP2-AS1_ENST00000578923.1_RNA|THY1_ENST00000580275.1_Missense_Mutation_p.T64A|THY1_ENST00000528522.1_Missense_Mutation_p.T81A NM_006288.3 NP_006279.2 P04216 THY1_HUMAN Thy-1 cell surface antigen 81 Ig-like V-type. angiogenesis|cell-cell adhesion|cytoskeleton organization|focal adhesion assembly|negative regulation of axonogenesis|negative regulation of cell migration|negative regulation of protein kinase activity|negative regulation of T cell receptor signaling pathway|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell activation|retinal cone cell development|T cell receptor signaling pathway endoplasmic reticulum|growth cone|integral to plasma membrane|membrane raft GPI anchor binding|integrin binding|Rho GTPase activator activity breast(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1) 12 Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.83e-05) TATTTGCTGGTGAAGTTGGTT 0.557000 37 120 0 0 1 0 0 SPATA31A6 389730 broad.mit.edu 37 9 43630657 43630657 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:43630657C>T ENST00000332857.6 - 1 73 c.45G>A c.(43-45)tcG>tcA p.S15S NM_001145196.1 NP_001138668.1 SPATA31 subfamily A, member 6 GGGCGTTTAGCGATGAGGCAC 0.483000 18 98 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7585873 7585873 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:7585873T>C ENST00000379802.3 + 24 8719 c.8378T>C c.(8377-8379)aTg>aCg p.M2793T DSP_ENST00000418664.2_Missense_Mutation_p.M2194T NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 2793 Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) AATCGCTCCATGGTAGAAGAT 0.542000 96 346 0 0 1 0 0 HIPK2 28996 broad.mit.edu 37 7 139285288 139285288 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:139285288T>C ENST00000406875.3 - 11 2404 c.2310A>G c.(2308-2310)ctA>ctG p.L770L HIPK2_ENST00000428878.2_Silent_p.L743L|HIPK2_ENST00000342645.6_Silent_p.L770L NM_022740.4 NP_073577.3 Q9H2X6 HIPK2_HUMAN homeodomain interacting protein kinase 2 770 Interaction with POU4F1 (By similarity).|Interaction with SKI and SMAD1. apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction centrosome|nuclear membrane|PML body ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Melanoma(164;0.205) GACCGGTCAATAGTGCAGGCT 0.542000 44 89 0 0 1 0 0 LOC220729 220729 broad.mit.edu 37 3 197348646 197348646 + RNA SNP T T C rs138265355 by1000genomes TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:197348646T>C ENST00000418868.1 - 0 613 NR_003266.2 TGGGCCTGCCTGCCCTTTCCA 0.532000 9 129 0 0 1 0 0 SP1 6667 broad.mit.edu 37 12 53804895 53804895 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:53804895T>C ENST00000426431.2 + 6 2268 c.2208T>C c.(2206-2208)ctT>ctC p.L736L SP1_ENST00000327443.4_Silent_p.L743L NM_003109.1 NP_003100.1 P08047 SP1_HUMAN Sp1 transcription factor 743 Domain D.|VZV IE62-binding. positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter cytoplasm double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1) 5 BRCA - Breast invasive adenocarcinoma(357;0.00527) CTTCAGCCCTTATTACCACCA 0.567000 4 165 0 0 1 0 0 ANKRD12 23253 broad.mit.edu 37 18 9275635 9275635 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr18:9275635C>T ENST00000383440.2 + 10 6065 c.5808C>T c.(5806-5808)gcC>gcT p.A1936A ANKRD12_ENST00000262126.3_Silent_p.A1959A|ANKRD12_ENST00000400020.3_Silent_p.A1936A NM_001083625.2 NP_001077094.1 Q6UB98 ANR12_HUMAN ankyrin repeat domain 12 1959 nucleus NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2) 65 TGCTGGATGCCGAAGTATACA 0.363000 35 108 0 0 1 0 0 TFAP2D 83741 broad.mit.edu 37 6 50740574 50740574 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:50740574C>T ENST00000008391.3 + 8 1584 c.1356C>T c.(1354-1356)gaC>gaT p.D452D NM_172238.3 NP_758438.2 Q7Z6R9 AP2D_HUMAN transcription factor AP-2 delta (activating enhancer binding protein 2 delta) 452 DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1) 60 Lung NSC(77;0.0334) AAAAGACAGACTAGCTACATC 0.448000 6 25 0 0 1 0 0 ZNF645 158506 broad.mit.edu 37 X 22291692 22291692 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chrX:22291692A>G ENST00000323684.1 + 1 628 c.584A>G c.(583-585)cAt>cGt p.H195R NM_152577.3 NP_689790.1 Q8N7E2 ZN645_HUMAN zinc finger protein 645 195 intracellular zinc ion binding cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1) 27 TCTGTGCAACATATGCTACAA 0.468000 6 79 0 0 1 0 0 AGBL1 123624 broad.mit.edu 37 15 86806031 86806031 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:86806031T>C ENST00000441037.2 + 9 949 c.854T>C c.(853-855)gTg>gCg p.V285A AGBL1_ENST00000421325.2_Missense_Mutation_p.V285A|AGBL1_ENST00000389298.3_Missense_Mutation_p.V16A NM_152336.2 NP_689549.2 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 285 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 62 GAAACAGACGTGAACAAGCTG 0.433000 4 19 0 0 1 0 0 CYP46A1 10858 broad.mit.edu 37 14 100182518 100182518 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:100182518G>A ENST00000554176.1 + 4 1096 c.430G>A c.(430-432)Gtc>Atc p.V144I CYP46A1_ENST00000261835.3_Missense_Mutation_p.V297I|CYP46A1_ENST00000423126.2_Missense_Mutation_p.V200I Q9Y6A2 CP46A_HUMAN cytochrome P450, family 46, subfamily A, polypeptide 1 297 bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1) 25 Melanoma(154;0.0866)|all_epithelial(191;0.179) GGACAACTTCGTCACCTTCTT 0.542000 21 69 0 0 1 0 0 AMFR 267 broad.mit.edu 37 16 56441904 56441904 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:56441904A>G ENST00000290649.5 - 4 848 c.638T>C c.(637-639)aTg>aCg p.M213T NM_001144.5 NP_001135.3 Q9UKV5 AMFR2_HUMAN autocrine motility factor receptor, E3 ubiquitin protein ligase 213 endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 17 CAAGGTGTGCATTCCGTGGGT 0.537000 21 43 0 0 1 0 0 SLC6A20 54716 broad.mit.edu 37 3 45814020 45814020 + Missense_Mutation SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:45814020G>T ENST00000358525.4 - 5 785 c.670C>A c.(670-672)Ctc>Atc p.L224I SLC6A20_ENST00000353278.4_Intron|SLC6A20_ENST00000456124.2_Missense_Mutation_p.L224I NM_020208.3 NP_064593.1 Q9NP91 S6A20_HUMAN solute carrier family 6 (proline IMINO transporter), member 20 224 cellular nitrogen compound metabolic process|glycine transport|proline transport apical plasma membrane|integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1) 13 BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267) ATGTACATGAGGCCATTGGTG 0.597000 12 28 2.80697e-09 2.90086e-09 1 1 0 SEC24A 10802 broad.mit.edu 37 5 133997209 133997209 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:133997209T>C ENST00000398844.2 + 2 786 c.498T>C c.(496-498)agT>agC p.S166S SEC24A_ENST00000322887.4_Silent_p.S166S NM_021982.2 NP_068817.1 O95486 SC24A_HUMAN SEC24 family member A 166 Pro-rich. COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm zinc ion binding NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GAAATACAAGTTTAACCACAA 0.363000 24 74 0 0 1 0 0 MEGF8 1954 broad.mit.edu 37 19 42880472 42880472 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:42880472C>T ENST00000334370.4 + 41 8517 c.7882C>T c.(7882-7884)Cgc>Tgc p.R2628C MEGF8_ENST00000251268.6_Missense_Mutation_p.R2695C|MEGF8_ENST00000378073.4_Missense_Mutation_p.R289C NM_001410.2 NP_001401.2 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 2695 integral to membrane calcium ion binding|structural molecule activity breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 Prostate(69;0.00682) GATGGCCAGCCGCCCCTTCGC 0.682000 20 41 0 0 1 0 0 COX11 1353 broad.mit.edu 37 17 53042129 53042129 + Nonsense_Mutation SNP T T A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:53042129T>A ENST00000299335.3 - 2 589 c.451A>T c.(451-453)Aaa>Taa p.K151* COX11_ENST00000571584.1_Nonsense_Mutation_p.K151* NM_004375.3 NP_004366.1 Q9Y6N1 COX11_HUMAN cytochrome c oxidase assembly homolog 11 (yeast) 151 respiratory chain complex IV assembly|respiratory gaseous exchange integral to membrane|mitochondrial inner membrane copper ion binding|cytochrome-c oxidase activity|electron carrier activity endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|prostate(1) 9 AAGCTAATTTTAATGATTCGA 0.383000 4 71 0 0 1 0 0 MOCS3 27304 broad.mit.edu 37 20 49575406 49575406 + Silent SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:49575406C>A ENST00000244051.1 + 1 44 c.27C>A c.(25-27)gcC>gcA p.A9A NM_014484.3 NP_055299.1 O95396 MOCS3_HUMAN molybdenum cofactor synthesis 3 9 enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process cytosol ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 24 AGGTACTCGCCTTACAAGCTG 0.562000 26 92 1.55811e-20 1.6422e-20 1 1 0 D2HGDH 728294 broad.mit.edu 37 2 242680504 242680504 + Splice_Site SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:242680504A>G ENST00000321264.4 + 3 558 c.350_splice c.e3+1 p.R117_splice D2HGDH_ENST00000403782.1_5'UTR|D2HGDH_ENST00000342518.6_Splice_Site_p.R117_splice|D2HGDH_ENST00000537090.1_Splice_Site_p.R117_splice NM_152783.3 NP_689996.4 Q8N465 D2HDH_HUMAN D-2-hydroxyglutarate dehydrogenase 117 FAD-binding PCMH-type. 2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion mitochondrial matrix (R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1) 16 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833) CCACATCCTCAGGTGAGGTGG 0.637000 4 33 0 0 1 0 0 ARPC1A 10552 broad.mit.edu 37 7 98951628 98951628 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:98951628T>C ENST00000432884.2 + 8 917 c.456T>C c.(454-456)ggT>ggC p.G152G ARPC1A_ENST00000471960.1_3'UTR|ARPC1A_ENST00000262942.5_Silent_p.G199G Q92747 ARC1A_HUMAN actin related protein 2/3 complex, subunit 1A, 41kDa 199 actin cytoskeleton organization|regulation of actin filament polymerization actin cytoskeleton|cytoplasm actin binding endometrium(3)|large_intestine(5)|liver(2)|lung(7)|ovary(1)|prostate(1) 19 all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258) STAD - Stomach adenocarcinoma(171;0.215) CAGAGTTTGGTGGCAGTGGCA 0.582000 6 152 0 0 1 0 0 NAA35 60560 broad.mit.edu 37 9 88633297 88633297 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:88633297A>G ENST00000361671.5 + 20 2034 c.1901A>G c.(1900-1902)tAc>tGc p.Y634C NM_024635.3 NP_078911.3 Q5VZE5 NAA35_HUMAN N(alpha)-acetyltransferase 35, NatC auxiliary subunit 634 smooth muscle cell proliferation cytoplasm|nucleus|plasma membrane central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1) 25 CCAGTGCACTACTTACAGTTC 0.423000 9 28 0 0 1 0 0 DUSP4 1846 broad.mit.edu 37 8 29195914 29195914 + Silent SNP G G C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:29195914G>C ENST00000240100.2 - 3 1073 c.684C>G c.(682-684)gtC>gtG p.V228V DUSP4_ENST00000240101.2_Silent_p.V137V NM_001394.6 NP_001385.1 Q13115 DUS4_HUMAN dual specificity phosphatase 4 228 Tyrosine-protein phosphatase. endoderm formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|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 nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity endometrium(1)|large_intestine(1)|lung(4) 6 KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113) AGTCCGAGGAGACATTCAACA 0.557000 4 111 0 0 1 0 0 KPNA2 3838 broad.mit.edu 37 17 66039096 66039096 + Missense_Mutation SNP C C G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:66039096C>G ENST00000537025.2 + 6 1267 c.647C>G c.(646-648)cCt>cGt p.P216R KPNA2_ENST00000330459.3_Missense_Mutation_p.P216R P52292 IMA2_HUMAN karyopherin alpha 2 (RAG cohort 1, importin alpha 1) 216 NLS binding site (major) (By similarity). DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination cytoplasm|nuclear pore|nucleoplasm histone deacetylase binding|nuclear localization sequence binding|protein transporter activity breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2) 22 all_cancers(12;1.18e-09) BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24) CTTGCAGTTCCTGATATGTCA 0.398000 86 249 0 0 1 0 0 PHACTR2 9749 broad.mit.edu 37 6 144093396 144093396 + Splice_Site SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:144093396T>C ENST00000427704.2 + 7 1331 c.1199_splice c.e7-1 p.F401_splice PHACTR2_ENST00000440869.2_Splice_Site_p.F412_splice|PHACTR2_ENST00000305766.6_Splice_Site_p.F321_splice|PHACTR2_ENST00000367584.4_Splice_Site_p.F389_splice|PHACTR2_ENST00000367582.3_Splice_Site_p.F332_splice NM_001100166.1|NM_014721.2 NP_001093636.1|NP_055536.2 O75167 PHAR2_HUMAN phosphatase and actin regulator 2 401 actin binding|protein phosphatase inhibitor activity NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 30 OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386) CTTTAACAGTTTCACAACCAA 0.493000 10 75 0 0 1 0 0 WDR54 84058 broad.mit.edu 37 2 74650994 74650994 + Missense_Mutation SNP G G C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:74650994G>C ENST00000348227.4 + 6 507 c.419G>C c.(418-420)gGc>gCc p.G140A WDR54_ENST00000409791.1_Missense_Mutation_p.G88A|WDR54_ENST00000461531.1_3'UTR NM_032118.2 NP_115494.1 Q9H977 WDR54_HUMAN WD repeat domain 54 140 breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1) 9 ACGTGGTCAGGCCGGGTGCTG 0.552000 42 129 0 0 1 0 0 EPRS 2058 broad.mit.edu 37 1 220170409 220170409 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:220170409A>G ENST00000366923.3 - 18 2726 c.2457T>C c.(2455-2457)agT>agC p.S819S NM_004446.2 NP_004437.2 P07814 SYEP_HUMAN glutamyl-prolyl-tRNA synthetase 819 3 X 57 AA approximate repeats. glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly cytosol|soluble fraction ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3) 63 GBM - Glioblastoma multiforme(131;0.0735) L-Glutamic Acid(DB00142)|L-Proline(DB00172) TTTCCAGAATACTTGCTGAGG 0.398000 5 116 0 0 1 0 0 TRIM6-TRIM34 445372 broad.mit.edu 37 11 5653605 5653605 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:5653605G>A ENST00000354852.5 + 8 1279 c.1106G>A c.(1105-1107)tGt>tAt p.C369Y TRIM34_ENST00000429814.2_Missense_Mutation_p.C15Y|TRIM6-TRIM34_ENST00000457787.2_Missense_Mutation_p.C15Y|HBG2_ENST00000380259.2_Intron|TRIM34_ENST00000514226.1_Missense_Mutation_p.C15Y NM_001003819.3 NP_001003819.1 B2RNG4 B2RNG4_HUMAN 369 intracellular zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1) 33 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145) GAGGTGACCTGTCCCATCTGC 0.537000 OREG0003725 type=REGULATORY REGION|Gene=TRIM34|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 34 117 0 0 1 0 0 KCTD8 386617 broad.mit.edu 37 4 44177057 44177057 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:44177057C>T ENST00000360029.3 - 2 1455 c.1172G>A c.(1171-1173)cGc>cAc p.R391H NM_198353.2 NP_938167.1 Q6ZWB6 KCTD8_HUMAN potassium channel tetramerization domain containing 8 391 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity p.R391H(1) central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4) 41 TTTAGAGGGGCGATCCAATGT 0.507000 HNSCC(17;0.042) 54 158 0 0 1 0 0 REV1 51455 broad.mit.edu 37 2 100027230 100027230 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:100027230T>C ENST00000258428.3 - 14 2500 c.2272A>G c.(2272-2274)Atg>Gtg p.M758V REV1_ENST00000465835.1_5'UTR|REV1_ENST00000393445.3_Missense_Mutation_p.M757V NM_001037872.1|NM_016316.2 NP_001032961.1|NP_057400.1 Q9UBZ9 REV1_HUMAN REV1, polymerase (DNA directed) 758 DNA replication|error-prone translesion synthesis|response to UV nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TTTCGTACCATGATTTTGAGA 0.428000 Direct reversal of damage 5 118 0 0 1 0 0 PIK3CG 5294 broad.mit.edu 37 7 106508498 106508498 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:106508498C>T ENST00000359195.3 + 2 802 c.492C>T c.(490-492)gaC>gaT p.D164D PIK3CG_ENST00000496166.1_Silent_p.D164D|PIK3CG_ENST00000440650.2_Silent_p.D164D NM_002649.2 NP_002640.2 P48736 PK3CG_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma 164 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 132 ACGTCACTGACGTCAGCAACG 0.682000 5 37 0 0 1 0 0 PRC1 9055 broad.mit.edu 37 15 91512855 91512855 + Splice_Site SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:91512855T>C ENST00000361188.5 - 13 2784 c.e13-2 PRC1_ENST00000361919.3_Splice_Site|PRC1-AS1_ENST00000556200.1_RNA|PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000442656.2_Splice_Site|PRC1_ENST00000394249.3_Splice_Site O43663 PRC1_HUMAN protein regulator of cytokinesis 1 cytokinesis|mitotic spindle elongation cytoplasm|nucleus|spindle microtubule|spindle pole protein binding endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2) 25 Lung NSC(78;0.0987)|all_lung(78;0.175) AGCGACTGGCTGCAGAGAAAG 0.502000 6 88 0 0 1 0 0 TCTN2 79867 broad.mit.edu 37 12 124191394 124191394 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:124191394A>G ENST00000303372.5 + 16 2019 c.1891A>G c.(1891-1893)Aca>Gca p.T631A TCTN2_ENST00000426174.2_Missense_Mutation_p.T630A NM_001143850.2|NM_024809.4 NP_001137322.1|NP_079085.2 Q96GX1 TECT2_HUMAN tectonic family member 2 631 cilium assembly|smoothened signaling pathway integral to membrane breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 30 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451) CCACCCCCTGACAAGGTACTC 0.428000 14 81 0 0 1 0 0 RTN4IP1 84816 broad.mit.edu 37 6 107040176 107040176 + Splice_Site SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:107040176C>A ENST00000369063.3 - 6 1135 c.e6-1 RTN4IP1_ENST00000539449.1_Intron NM_032730.4 NP_116119.2 Q8WWV3 RT4I1_HUMAN reticulon 4 interacting protein 1 mitochondrion oxidoreductase activity|zinc ion binding breast(1)|kidney(3)|large_intestine(2)|lung(6)|urinary_tract(1) 13 Breast(9;0.0107)|all_epithelial(6;0.14) all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144) Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394) all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144) CTTTCATTACCTGCCCCCCAC 0.383000 14 36 1.49906e-05 1.53131e-05 1 1 0 GPR98 84059 broad.mit.edu 37 5 89990217 89990217 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:89990217G>A ENST00000405460.2 + 33 7740 c.7644G>A c.(7642-7644)atG>atA p.M2548I NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 2548 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TTCACCTCATGAACATTTCAG 0.393000 42 124 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152674485 152674485 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:152674485G>A ENST00000367255.5 - 69 11767 c.11166C>T c.(11164-11166)ggC>ggT p.G3722G SYNE1_ENST00000423061.1_Silent_p.G3707G|SYNE1_ENST00000448038.1_Silent_p.G3707G|SYNE1_ENST00000265368.4_Silent_p.G3722G|SYNE1_ENST00000341594.5_Silent_p.G3693G NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 3722 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TATGAGTAGAGCCATACCAAT 0.393000 HNSCC(10;0.0054) 42 132 0 0 1 0 0 TERC 7012 broad.mit.edu 37 3 169482478 169482478 + RNA SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:169482478T>C ENST00000602385.1 - 0 370 NR_001566.1 CCGTTCCTCTTCCTGCGGCCT 0.672000 Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis 6 31 0 0 1 0 0 TRIM16L 147166 broad.mit.edu 37 17 18638255 18638255 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:18638255C>T ENST00000449552.2 + 7 2013 c.529C>T c.(529-531)Cgc>Tgc p.R177C TRIM16L_ENST00000395671.4_Missense_Mutation_p.R177C|TRIM16L_ENST00000395672.2_Missense_Mutation_p.R177C|TRIM16L_ENST00000414850.2_Silent_p.T89T|TRIM16L_ENST00000395902.3_Missense_Mutation_p.R231C|TRIM16L_ENST00000572555.1_Missense_Mutation_p.R177C|TRIM16L_ENST00000571708.1_Missense_Mutation_p.R177C Q309B1 TR16L_HUMAN tripartite motif containing 16-like 177 B30.2/SPRY. cytoplasm endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5) 9 GGAGGAGAACCGCAAGGTCAC 0.607000 11 80 0 0 1 0 0 SRRM3 222183 broad.mit.edu 37 7 75889305 75889305 + Silent SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:75889305G>T ENST00000388802.4 + 4 626 c.417G>T c.(415-417)gtG>gtT p.V139V SRRM3_ENST00000326382.8_Silent_p.V139V serine/arginine repetitive matrix 3 NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1) 8 ACGGCCCAGTGGACTGTGACT 0.771000 7 9 0.000157383 0.00015972 1 1 0 SLC10A5 347051 broad.mit.edu 37 8 82606590 82606590 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:82606590A>G ENST00000518568.1 - 1 1819 c.618T>C c.(616-618)gcT>gcC p.A206A NM_001010893.2 NP_001010893.1 Q5PT55 NTCP5_HUMAN solute carrier family 10, member 5 206 integral to membrane bile acid:sodium symporter activity autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5) 15 CAACTCCAAAAGCTTGCGCCT 0.478000 59 220 0 0 1 0 0 PLA1A 51365 broad.mit.edu 37 3 119325767 119325767 + Missense_Mutation SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:119325767C>A ENST00000273371.4 + 2 292 c.220C>A c.(220-222)Caa>Aaa p.Q74K PLA1A_ENST00000494440.1_Missense_Mutation_p.Q58K|PLA1A_ENST00000495992.1_Missense_Mutation_p.Q74K|PLA1A_ENST00000488919.1_Intron NM_015900.3 NP_056984.1 Q53H76 PLA1A_HUMAN phospholipase A1 member A 74 lipid catabolic process|phosphatidylserine metabolic process extracellular region phospholipase A1 activity NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 CAGTGACCTCCAAAACTCTGG 0.458000 65 187 3.07184e-27 3.25436e-27 1 1 0 CLPB 81570 broad.mit.edu 37 11 72114048 72114048 + Nonsense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:72114048C>T ENST00000294053.3 - 3 677 c.504G>A c.(502-504)tgG>tgA p.W168* CLPB_ENST00000340729.5_Intron|CLPB_ENST00000445069.2_Nonsense_Mutation_p.W64*|CLPB_ENST00000437826.2_Nonsense_Mutation_p.W123*|CLPB_ENST00000543042.1_5'UTR|CLPB_ENST00000538039.1_Nonsense_Mutation_p.W168* NM_001258394.1|NM_030813.4 NP_001245323.1|NP_110440.1 Q9H078 CLPB_HUMAN ClpB caseinolytic peptidase B homolog (E. coli) 168 cellular response to heat ATP binding|nucleoside-triphosphatase activity|protein binding endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 19 TGAGTGCTGTCCAGCCAAGTC 0.498000 17 55 0 0 1 0 0 NEUROD4 58158 broad.mit.edu 37 12 55421134 55421134 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:55421134G>A ENST00000242994.3 + 2 1289 c.911G>A c.(910-912)cGt>cAt p.R304H NM_021191.2 NP_067014.2 Q9HD90 NDF4_HUMAN neuronal differentiation 4 304 amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.R304H(1) breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 41 GGTACCCCCCGTTATGATGTT 0.458000 272 608 0 0 1 0 0 PARL 55486 broad.mit.edu 37 3 183585695 183585695 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:183585695A>G ENST00000317096.4 - 2 339 c.279T>C c.(277-279)taT>taC p.Y93Y PARL_ENST00000435888.1_Silent_p.Y93Y|PARL_ENST00000311101.5_Silent_p.Y93Y NM_018622.5 NP_061092.3 Q9H300 PARL_HUMAN presenilin associated, rhomboid-like 93 proteolysis integral to membrane|mitochondrial inner membrane|nucleus serine-type endopeptidase activity endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1) 17 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) TCCTTATAGGATAGGGAGAAG 0.413000 14 119 0 0 1 0 0 PIGG 54872 broad.mit.edu 37 4 494216 494216 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:494216A>G ENST00000453061.2 + 2 292 c.186A>G c.(184-186)ccA>ccG p.P62P PIGG_ENST00000502311.1_3'UTR|PIGG_ENST00000296306.7_5'UTR|PIGG_ENST00000310340.5_Silent_p.P62P|PIGG_ENST00000509768.1_5'UTR|PIGG_ENST00000383028.4_Silent_p.P62P|PIGG_ENST00000504346.1_5'UTR|PIGG_ENST00000536264.1_5'UTR|PIGG_ENST00000503111.1_5'UTR NM_001127178.1 NP_001120650.1 Q5H8A4 PIGG_HUMAN phosphatidylinositol glycan anchor biosynthesis, class G 62 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane CP2 mannose-ethanolamine phosphotransferase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 39 CGCTGCCACCACCTCTCTTCA 0.398000 9 45 0 0 1 0 0 BMP10 27302 broad.mit.edu 37 2 69092780 69092780 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:69092780C>T ENST00000295379.1 - 2 1416 c.1258G>A c.(1258-1260)Gaa>Aaa p.E420K NM_014482.1 NP_055297.1 O95393 BMP10_HUMAN bone morphogenetic protein 10 420 activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis cell surface|extracellular space|Z disc cytokine activity|growth factor activity|receptor serine/threonine kinase binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2) 27 CAGCCACATTCGGAGACGGCC 0.408000 50 139 0 0 1 0 0 GRAMD1B 57476 broad.mit.edu 37 11 123484353 123484353 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:123484353C>T ENST00000529750.1 + 15 2112 c.1785C>T c.(1783-1785)atC>atT p.I595I GRAMD1B_ENST00000456860.2_Silent_p.I602I|GRAMD1B_ENST00000322282.7_Silent_p.I595I|GRAMD1B_ENST00000450171.2_Silent_p.I286I NM_020716.1 NP_065767.1 Q3KR37 GRM1B_HUMAN GRAM domain containing 1B 595 integral to membrane NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 30 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394) GCCACAGGATCAAACATGTGG 0.612000 4 39 0 0 1 0 0 DNAJB13 374407 broad.mit.edu 37 11 73679470 73679470 + Missense_Mutation SNP C C G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:73679470C>G ENST00000339764.1 + 6 1438 c.687C>G c.(685-687)aaC>aaG p.N229K DNAJB13_ENST00000537753.1_Missense_Mutation_p.N54K|DNAJB13_ENST00000543947.1_Missense_Mutation_p.N54K|RP11-167N4.2_ENST00000537019.1_RNA NM_153614.2 NP_705842.2 P59910 DJB13_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 13 229 apoptosis|protein folding|spermatogenesis heat shock protein binding|unfolded protein binding p.L230fs*5(1) large_intestine(3)|lung(2) 5 Breast(11;7.42e-05) AGAATGACAACCTCTTCTTCG 0.582000 11 44 0 0 1 0 0 TRIO 7204 broad.mit.edu 37 5 14508455 14508455 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:14508455G>A ENST00000344204.4 + 57 9242 c.9218G>A c.(9217-9219)cGc>cAc p.R3073H TRIO_ENST00000344135.5_Missense_Mutation_p.R572H|TRIO_ENST00000537187.1_Missense_Mutation_p.R2897H NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor 3073 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity p.R3073H(1) NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) ATTGAGCGGCGCAAACACCAG 0.547000 32 102 0 0 1 0 0 PARD3 56288 broad.mit.edu 37 10 34671726 34671726 + Missense_Mutation SNP G G A rs148582124 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:34671726G>A ENST00000374789.3 - 9 1466 c.1141C>T c.(1141-1143)Cgt>Tgt p.R381C PARD3_ENST00000374790.3_Missense_Mutation_p.R337C|PARD3_ENST00000545260.1_Missense_Mutation_p.R337C|PARD3_ENST00000374776.1_Missense_Mutation_p.R381C|PARD3_ENST00000374794.3_Missense_Mutation_p.R337C|PARD3_ENST00000374773.1_Missense_Mutation_p.R381C|PARD3_ENST00000350537.4_Missense_Mutation_p.R381C|PARD3_ENST00000346874.4_Missense_Mutation_p.R381C|PARD3_ENST00000545693.1_Missense_Mutation_p.R381C|PARD3_ENST00000340077.5_Missense_Mutation_p.R381C|PARD3_ENST00000374788.3_Missense_Mutation_p.R381C|PARD3_ENST00000544292.1_Missense_Mutation_p.R111C NM_019619.3 NP_062565.2 Q8TEW0 PARD3_HUMAN par-3 family cell polarity regulator 381 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 63 Breast(68;0.0707) GGGCTAAAACGGCTTGAATAG 0.488000 4 131 0 0 1 0 0 POMC 5443 broad.mit.edu 37 2 25384061 25384061 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:25384061C>T ENST00000405623.1 - 3 1148 c.693G>A c.(691-693)ccG>ccA p.P231P POMC_ENST00000264708.3_Silent_p.P231P|POMC_ENST00000395826.2_Silent_p.P231P|POMC_ENST00000380794.1_Silent_p.P231P P01189 COLI_HUMAN proopiomelanocortin 231 cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure extracellular space|stored secretory granule hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding p.P231P(1) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1) 12 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108) TGTCCTTGGGCGGGCTGCCCC 0.642000 6 34 0 0 1 0 0 NRAP 4892 broad.mit.edu 37 10 115365940 115365940 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:115365940A>G ENST00000369358.4 - 33 4072 c.3828T>C c.(3826-3828)agT>agC p.S1276S NRAP_ENST00000369360.3_Silent_p.S1241S|NRAP_ENST00000360478.3_Silent_p.S1233S|NRAP_ENST00000359988.3_Silent_p.S1268S Q86VF7 NRAP_HUMAN nebulin-related anchoring protein 1268 fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) GGCTTACGTCACTCAGGTTGG 0.478000 19 53 0 0 1 0 0 FAM204A 63877 broad.mit.edu 37 10 120070376 120070376 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:120070376T>C ENST00000369183.4 - 9 954 c.695A>G c.(694-696)tAc>tGc p.Y232C FAM204A_ENST00000369172.4_Missense_Mutation_p.Y232C|FAM204A_ENST00000469758.1_5'UTR NM_022063.2 NP_071346.1 Q9H8W3 F204A_HUMAN family with sequence similarity 204, member A 232 kidney(1)|large_intestine(5)|lung(4)|ovary(1) 11 AAGTTACATGTATCCCATGTT 0.323000 22 62 0 0 1 0 0 MYT1 4661 broad.mit.edu 37 20 62839124 62839124 + Missense_Mutation SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:62839124C>A ENST00000536311.1 + 7 939 c.575C>A c.(574-576)cCt>cAt p.P192H MYT1_ENST00000328439.1_Missense_Mutation_p.P192H|MYT1_ENST00000360149.4_Intron Q01538 MYT1_HUMAN myelin transcription factor 1 192 cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) AAGCCAGGTCCTGGCATTGTG 0.592000 24 58 7.92952e-12 8.24765e-12 1 1 0 PVRL1 5818 broad.mit.edu 37 11 119535589 119535589 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:119535589G>A ENST00000264025.3 - 6 1952 c.1422C>T c.(1420-1422)gcC>gcT p.A474A PVRL1_ENST00000341398.2_Intron NM_002855.4 NP_002846.3 Q15223 PVRL1_HUMAN poliovirus receptor-related 1 (herpesvirus entry mediator C) 474 adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response cell-cell adherens junction|extracellular region|integral to membrane cell adhesion molecule binding|coreceptor activity|protein homodimerization activity p.A474A(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.29e-05) GACGGGCCTCGGCCTCATCCA 0.657000 13 31 0 0 1 0 0 OR4A16 81327 broad.mit.edu 37 11 55111035 55111035 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:55111035G>A ENST00000314721.2 + 1 409 c.359G>A c.(358-360)cGc>cAc p.R120H NM_001005274.1 NP_001005274.1 Q8NH70 O4A16_HUMAN olfactory receptor, family 4, subfamily A, member 16 120 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 51 GCCTATGATCGCTATGTGGCT 0.468000 48 174 0 0 1 0 0 BACH2 60468 broad.mit.edu 37 6 90661409 90661409 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:90661409C>T ENST00000257749.4 - 7 1123 c.416G>A c.(415-417)gGc>gAc p.G139D BACH2_ENST00000537989.1_Missense_Mutation_p.G139D|RP3-512E2.2_ENST00000413986.1_RNA|BACH2_ENST00000343122.3_Missense_Mutation_p.G139D|RP3-512E2.2_ENST00000445838.1_RNA NM_021813.2 NP_068585.1 Q9BYV9 BACH2_HUMAN BTB and CNC homology 1, basic leucine zipper transcription factor 2 139 nucleus protein dimerization activity|sequence-specific DNA binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 45 all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063) BRCA - Breast invasive adenocarcinoma(108;0.0799) CACAAACAGGCCATCCTCACT 0.597000 16 77 0 0 1 0 0 OR2G6 391211 broad.mit.edu 37 1 248685673 248685673 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:248685673G>A ENST00000343414.4 + 1 758 c.726G>A c.(724-726)tcG>tcA p.S242S NM_001013355.1 NP_001013373.1 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, member 6 242 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GGACCTGTTCGTCTCACCTGG 0.463000 5 107 0 0 1 0 0 SP100 6672 broad.mit.edu 37 2 231331885 231331885 + Missense_Mutation SNP G G A rs144727058 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:231331885G>A ENST00000264052.5 + 13 1601 c.1246G>A c.(1246-1248)Gca>Aca p.A416T SP100_ENST00000409112.1_Missense_Mutation_p.A416T|SP100_ENST00000427101.2_Missense_Mutation_p.A391T|SP100_ENST00000341950.4_Missense_Mutation_p.A416T|SP100_ENST00000409897.1_Missense_Mutation_p.A381T|SP100_ENST00000340126.4_Missense_Mutation_p.A416T|SP100_ENST00000409341.1_Missense_Mutation_p.A416T|SP100_ENST00000409824.1_Missense_Mutation_p.A391T NM_003113.3 NP_003104.2 P23497 SP100_HUMAN SP100 nuclear antigen 416 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon cytoplasm|nuclear periphery|nucleolus|PML body chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1) 25 Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) GGAGGCGCCCGCAGAAGCCTC 0.527000 47 169 0 0 1 0 0 TNPO2 30000 broad.mit.edu 37 19 12822153 12822153 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:12822153C>T ENST00000425528.1 - 12 1431 c.1074G>A c.(1072-1074)gcG>gcA p.A358A TNPO2_ENST00000356861.5_Silent_p.A358A|TNPO2_ENST00000450764.2_Silent_p.A358A|TNPO2_ENST00000592287.1_Silent_p.A358A|TNPO2_ENST00000589956.1_5'UTR|TNPO2_ENST00000441499.1_Silent_p.A358A|TNPO2_ENST00000588216.1_Silent_p.A358A O14787 TNPO2_HUMAN transportin 2 358 intracellular protein transport cytoplasm|nucleus nuclear localization sequence binding|protein binding|protein transporter activity autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 CGTCATCCTCCGCGTCCTCGG 0.627000 62 207 0 0 1 0 0 EFHB 151651 broad.mit.edu 37 3 19975431 19975431 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:19975431G>A ENST00000295824.9 - 1 241 c.80C>T c.(79-81)cCc>cTc p.P27L EFHB_ENST00000498089.1_5'UTR|EFHB_ENST00000344838.4_Intron NM_144715.3 NP_653316.3 Q8N7U6 EFHB_HUMAN EF-hand domain family, member B 27 signal transduction proteinaceous extracellular matrix calcium ion binding breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1) 26 CAACTCCATGGGAAATTTTGT 0.483000 8 28 0 0 1 0 0 C1orf56 54964 broad.mit.edu 37 1 151021320 151021320 + Missense_Mutation SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:151021320A>T ENST00000368926.5 + 1 1105 c.997A>T c.(997-999)Atg>Ttg p.M333L C1orf56_ENST00000465135.1_3'UTR NM_017860.3 NP_060330.2 Q9BUN1 CA056_HUMAN chromosome 1 open reading frame 56 333 extracellular region endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1) 7 Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) GTTCACAGAGATGCAACCAGT 0.522000 OREG0013793 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 31 108 0 0 1 0 0 CYP4Z2P 163720 broad.mit.edu 37 1 47338931 47338931 + RNA SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:47338931T>C ENST00000505841.1 - 0 863 NR_002788.2 CACTCAAAAGTATGTCCAGAA 0.383000 9 29 0 0 1 0 0 KRT75 9119 broad.mit.edu 37 12 52824429 52824429 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:52824429T>C ENST00000252245.5 - 5 1151 c.931A>G c.(931-933)Aac>Gac p.N311D NM_004693.2 NP_004684.2 O95678 K2C75_HUMAN keratin 75 311 Linker 12.|Rod. keratin filament structural molecule activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1) 28 BRCA - Breast invasive adenocarcinoma(357;0.192) AGGTTGCGGTTGTTGTCCATG 0.572000 59 202 0 0 1 0 0 FLNA 2316 broad.mit.edu 37 X 153587512 153587512 + Missense_Mutation SNP G G C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chrX:153587512G>C ENST00000422373.1 - 26 4562 c.4314C>G c.(4312-4314)ttC>ttG p.F1438L FLNA_ENST00000369850.3_Missense_Mutation_p.F1438L|FLNA_ENST00000360319.4_Missense_Mutation_p.F1438L|FLNA_ENST00000344736.4_Missense_Mutation_p.F1438L NM_001456.3 NP_001447.2 P21333 FLNA_HUMAN filamin A, alpha 1438 actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CAGGGACCTTGAAAGGACTGC 0.632000 98 81 0 0 1 0 0 CCDC142 84865 broad.mit.edu 37 2 74702467 74702467 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:74702467A>G ENST00000393965.3 - 7 2077 c.1681T>C c.(1681-1683)Ttg>Ctg p.L561L CCDC142_ENST00000290418.4_Silent_p.L554L NM_032779.3 NP_116168.3 Q17RM4 CC142_HUMAN coiled-coil domain containing 142 561 central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 16 AATCCTTGCAACACAGGCTCC 0.557000 38 104 0 0 1 0 0 SIN3B 23309 broad.mit.edu 37 19 16973259 16973259 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:16973259A>G ENST00000379803.1 + 9 1169 c.1155A>G c.(1153-1155)atA>atG p.I385M SIN3B_ENST00000248054.5_Missense_Mutation_p.I385M NM_015260.2 NP_056075.1 O75182 SIN3B_HUMAN SIN3 transcription regulator family member B 385 Interaction with NCOR1 (By similarity). cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm protein binding endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 26 GGGACGGGATAAGCCGGGAAA 0.552000 24 66 0 0 1 0 0 TEK 7010 broad.mit.edu 37 9 27217744 27217744 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:27217744C>T ENST00000380036.4 + 19 3492 c.3050C>T c.(3049-3051)aCc>aTc p.T1017I TEK_ENST00000406359.4_Missense_Mutation_p.T974I|TEK_ENST00000519097.1_Missense_Mutation_p.T869I NM_000459.3 NP_000450.2 Q02763 TIE2_HUMAN TEK tyrosine kinase, endothelial 1017 Protein kinase. angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3) 15 all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255) Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027) GTGTACACAACCAACAGTGAT 0.428000 15 61 0 0 1 0 0 ATXN7L3 56970 broad.mit.edu 37 17 42272027 42272027 + Silent SNP G G C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:42272027G>C ENST00000389384.4 - 11 1061 c.753C>G c.(751-753)gtC>gtG p.V251V ATXN7L3_ENST00000593073.1_5'UTR|ATXN7L3_ENST00000454077.2_Silent_p.V258V NM_001098833.1 NP_001092303.1 Q14CW9 AT7L3_HUMAN ataxin 7-like 3 251 SCA7. histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent SAGA complex ligand-dependent nuclear receptor transcription coactivator activity|metal ion binding|protein binding kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2) 12 Breast(137;0.00765)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.113) GGGAGCTCTCGACCTCTGGAA 0.557000 19 46 0 0 1 0 0 HECTD1 25831 broad.mit.edu 37 14 31583197 31583197 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:31583197T>C ENST00000399332.1 - 32 6230 c.5742A>G c.(5740-5742)atA>atG p.I1914M HECTD1_ENST00000553700.1_Missense_Mutation_p.I1914M NM_015382.2 NP_056197.2 Q9ULT8 HECD1_HUMAN HECT domain containing E3 ubiquitin protein ligase 1 1914 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 70 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) GCAGGTAGGTTATCAAGTCAT 0.423000 13 45 0 0 1 0 0 RTN1 6252 broad.mit.edu 37 14 60193834 60193834 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:60193834A>G ENST00000267484.5 - 3 1903 c.1568T>C c.(1567-1569)cTc>cCc p.L523P NM_021136.2 NP_066959.1 Q16799 RTN1_HUMAN reticulon 1 523 neuron differentiation integral to endoplasmic reticulum membrane signal transducer activity central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(108;0.0968) GGGGTAGTCGAGGAAGGAACC 0.701000 7 11 0 0 1 0 0 BORA 79866 broad.mit.edu 37 13 73318699 73318699 + Splice_Site SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr13:73318699G>A ENST00000390667.5 + 7 608 c.511_splice c.e7+1 p.G171_splice BORA_ENST00000377815.3_Splice_Site_p.G101_splice|BORA_ENST00000464754.1_3'UTR NM_024808.2 NP_079084.2 Q6PGQ7 BORA_HUMAN bora, aurora kinase A activator 171 cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization protein kinase binding AAATATATTAGGTAAATACTG 0.318000 7 27 0 0 1 0 0 DOK6 220164 broad.mit.edu 37 18 67345062 67345062 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr18:67345062G>A ENST00000382713.5 + 4 572 c.382G>A c.(382-384)Gcc>Acc p.A128T DOK6_ENST00000584435.1_3'UTR NM_152721.5 NP_689934.2 Q6PKX4 DOK6_HUMAN docking protein 6 128 insulin receptor binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 20 Colorectal(73;0.083)|Esophageal squamous(42;0.131) CGACCTTCTGGCCGCAGGAGT 0.527000 6 77 0 0 1 0 0 PPFIBP1 8496 broad.mit.edu 37 12 27845536 27845536 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:27845536G>A ENST00000318304.8 + 28 3179 c.2896G>A c.(2896-2898)Gaa>Aaa p.E966K PPFIBP1_ENST00000542629.1_Missense_Mutation_p.E935K|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.E960K|PPFIBP1_ENST00000537927.1_Missense_Mutation_p.E813K NM_001198916.1|NM_177444.2 NP_001185845.1|NP_803193.2 Q86W92 LIPB1_HUMAN PTPRF interacting protein, binding protein 1 (liprin beta 1) 966 cell adhesion plasma membrane protein binding PPFIBP1/ALK(3) central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1) 32 Lung SC(9;0.0873) GGAAGATTCAGAAGGGACAGT 0.358000 20 170 0 0 1 0 0 ARHGEF18 23370 broad.mit.edu 37 19 7521272 7521272 + Missense_Mutation SNP T T A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:7521272T>A ENST00000359920.6 + 8 1853 c.1600T>A c.(1600-1602)Tac>Aac p.Y534N ARHGEF18_ENST00000319670.9_Missense_Mutation_p.Y376N|CTD-2207O23.3_ENST00000593531.1_Missense_Mutation_p.N491K NM_001130955.1 NP_001124427.1 Q6ZSZ5 ARHGI_HUMAN Rho/Rac guanine nucleotide exchange factor (GEF) 18 534 PH. actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1) 23 Renal(5;0.0902) AGATCAGAAATACGTCTTTGC 0.488000 16 607 0 0 1 0 0 CECR2 27443 broad.mit.edu 37 22 18022173 18022173 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr22:18022173A>G ENST00000262608.8 + 15 2278 c.2278A>G c.(2278-2280)Acg>Gcg p.T760A CECR2_ENST00000400585.2_Missense_Mutation_p.T618A|CECR2_ENST00000400573.4_Missense_Mutation_p.T759A NM_031413.3 NP_113601.2 Q9BXF3 CECR2_HUMAN cat eye syndrome chromosome region, candidate 2 801 chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 59 all_epithelial(15;0.139) Lung(27;0.146) CCATGGTGCTACGAACCAAGG 0.552000 14 55 0 0 1 0 0 TMED8 283578 broad.mit.edu 37 14 77809655 77809655 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:77809655G>A ENST00000216468.7 - 5 681 c.626C>T c.(625-627)gCg>gTg p.A209V NM_213601.1 NP_998766.1 Q6PL24 TMED8_HUMAN transmembrane emp24 protein transport domain containing 8 209 GOLD. transport integral to membrane breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4) 15 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0281) GTCATCGGTCGCAAACTCCCA 0.522000 22 55 0 0 1 0 0 COL16A1 1307 broad.mit.edu 37 1 32157018 32157018 + Splice_Site SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:32157018C>T ENST00000373672.3 - 19 1914 c.1398_splice c.e19+1 p.P466_splice COL16A1_ENST00000373668.3_Splice_Site_p.P466_splice|COL16A1_ENST00000271069.6_Splice_Site_p.P466_splice NM_001856.3 NP_001847.3 Q07092 COGA1_HUMAN collagen, type XVI, alpha 1 466 Triple-helical region 9 (COL9) with 3 imperfections. cell adhesion|female pregnancy|integrin-mediated signaling pathway collagen type XVI integrin binding|structural molecule activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4) 48 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116) STAD - Stomach adenocarcinoma(196;0.059) GGGTACTCACCGGGGTCCCAG 0.667000 19 51 0 0 1 0 0 NPC1 4864 broad.mit.edu 37 18 21136222 21136222 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr18:21136222T>C ENST00000269228.5 - 8 1865 c.1311A>G c.(1309-1311)atA>atG p.I437M NPC1_ENST00000540608.1_5'UTR|NPC1_ENST00000412552.2_Missense_Mutation_p.I187M NM_000271.4 NP_000262.2 O15118 NPC1_HUMAN Niemann-Pick disease, type C1 437 autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm hedgehog receptor activity|protein binding|sterol transporter activity breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1) 38 all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127) GCAGTATCTGTATGTCAAGCG 0.498000 24 84 0 0 1 0 0 T 6862 broad.mit.edu 37 6 166571971 166571971 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:166571971G>A ENST00000296946.2 - 9 1608 c.1140C>T c.(1138-1140)ccC>ccT p.P380P T_ENST00000366871.3_Silent_p.P322P NM_003181.3 NP_003172.1 O15178 BRAC_HUMAN T, brachyury homolog (mouse) 380 anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation nucleus sequence-specific DNA binding transcription factor activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 39 Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559) OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407) TGTAGTGCGCGGGGGAGCCCC 0.711000 Chordoma, Familial Clustering of 28 59 0 0 1 0 0 ZNF79 7633 broad.mit.edu 37 9 130206653 130206653 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:130206653A>G ENST00000342483.5 + 5 1080 c.674A>G c.(673-675)gAa>gGa p.E225G ZNF79_ENST00000543471.1_Missense_Mutation_p.E201G NM_007135.2 NP_009066.2 Q15937 ZNF79_HUMAN zinc finger protein 79 225 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2) 28 GAGTGCAGTGAATGTGGGAAG 0.488000 34 114 0 0 1 0 0 HRASLS5 117245 broad.mit.edu 37 11 63230986 63230986 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:63230986T>C ENST00000540857.1 - 6 931 c.799A>G c.(799-801)Ata>Gta p.I267V HRASLS5_ENST00000301790.4_Missense_Mutation_p.I277V|HRASLS5_ENST00000539221.1_3'UTR NM_001146728.1|NM_001146729.1|NM_054108.3 NP_001140200.1|NP_001140201.1|NP_473449.1 Q96KN8 HRSL5_HUMAN HRAS-like suppressor family, member 5 277 endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1) 14 CAGGCAGTTATTGGTTTGGGC 0.483000 56 158 0 0 1 0 0 PRKAA1 5562 broad.mit.edu 37 5 40765238 40765238 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:40765238A>G ENST00000397128.2 - 7 932 c.924T>C c.(922-924)tgT>tgC p.C308C PRKAA1_ENST00000354209.3_Silent_p.C323C NM_006251.5|NM_206907.3 NP_006242.5|NP_996790.3 Q13131 AAPK1_HUMAN protein kinase, AMP-activated, alpha 1 catalytic subunit 308 activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia cytosol ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding breast(1) 1 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914) CAAACTTTTCACATACTTCTT 0.378000 13 133 0 0 1 0 0 TRPS1 7227 broad.mit.edu 37 8 116617163 116617163 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:116617163A>G ENST00000395715.3 - 4 1610 c.1033T>C c.(1033-1035)Tat>Cat p.Y345H TRPS1_ENST00000519076.1_Missense_Mutation_p.Y286H|TRPS1_ENST00000520276.1_Missense_Mutation_p.Y336H|TRPS1_ENST00000519674.1_Missense_Mutation_p.Y332H|TRPS1_ENST00000220888.5_Missense_Mutation_p.Y332H NM_014112.2 NP_054831.2 Q9UHF7 TRPS1_HUMAN trichorhinophalangeal syndrome I 332 negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 111 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) CAGCGGAAATACTTGGTGTTC 0.408000 Langer-Giedion syndrome 35 110 0 0 1 0 0 CLCNKB 1188 broad.mit.edu 37 1 16378219 16378219 + Missense_Mutation SNP C C T rs121909133 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:16378219C>T ENST00000375679.4 + 14 1423 c.1312C>T c.(1312-1314)Cgc>Tgc p.R438C CLCNKB_ENST00000375667.3_Missense_Mutation_p.R269C NM_000085.4 NP_000076.2 chloride channel, voltage-sensitive Kb p.R438C(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1) 21 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) TGCTATCGGGCGCCTCTTTGG 0.617000 44 159 0 0 1 0 0 MYT1L 23040 broad.mit.edu 37 2 1796224 1796224 + Nonsense_Mutation SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:1796224C>A ENST00000399161.2 - 24 4036 c.3289G>T c.(3289-3291)Gag>Tag p.E1097* MYT1L_ENST00000428368.2_Nonsense_Mutation_p.E1095*|MYT1L_ENST00000407844.1_Nonsense_Mutation_p.E95* NM_015025.2 NP_055840.2 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 1097 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) AGGTTGCTCTCCATCGTGGTA 0.562000 5 51 0.0381472 0.0383256 1 1 0 TMPRSS11B 132724 broad.mit.edu 37 4 69107494 69107494 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:69107494G>A ENST00000332644.5 - 2 198 c.37C>T c.(37-39)Cca>Tca p.P13S NM_182502.3 NP_872308.2 Q86T26 TM11B_HUMAN transmembrane protease, serine 11B 13 proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1) 27 GTCCATAGTGGCCAAGATCTT 0.403000 8 44 0 0 1 0 0 MAP3K6 9064 broad.mit.edu 37 1 27687448 27687448 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:27687448G>A ENST00000493901.1 - 15 2123 c.1884C>T c.(1882-1884)ccC>ccT p.P628P MAP3K6_ENST00000374040.3_Silent_p.P620P|MAP3K6_ENST00000357582.2_Silent_p.P628P NM_004672.3 NP_004663.3 O95382 M3K6_HUMAN mitogen-activated protein kinase kinase kinase 6 628 activation of JUN kinase activity ATP binding|magnesium ion binding|MAP kinase kinase kinase activity breast(4)|central_nervous_system(2)|lung(3)|ovary(1) 10 all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) CCTCCTCCGCGGGCGCCGTGG 0.721000 16 29 0 0 1 0 0 MMP1 4312 broad.mit.edu 37 11 102661201 102661201 + Missense_Mutation SNP G G A rs146623880 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:102661201G>A ENST00000315274.6 - 10 1419 c.1352C>T c.(1351-1353)aCg>aTg p.T451M WTAPP1_ENST00000525739.2_RNA NM_001145938.1|NM_002421.3 NP_001139410.1|NP_002412.1 P03956 MMP1_HUMAN matrix metallopeptidase 1 (interstitial collagenase) 451 Hemopexin-like 4. blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 30 all_epithelial(12;0.0127) all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233) OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014) AATTCTCTTCGTTTTAGGATC 0.318000 6 24 0 0 1 0 0 RFX4 5992 broad.mit.edu 37 12 107155092 107155092 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:107155092T>C ENST00000392842.1 + 18 2467 c.2053T>C c.(2053-2055)Tac>Cac p.Y685H RFX4_ENST00000229387.5_Missense_Mutation_p.Y591H|RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000357881.4_Missense_Mutation_p.Y694H NM_213594.2 NP_998759.1 Q33E94 RFX4_HUMAN regulatory factor X, 4 (influences HLA class II expression) 685 transcription, DNA-dependent nucleus DNA binding NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1) 35 CAACACGTGCTACACAAGCCC 0.537000 4 205 0 0 1 0 0 RERE 473 broad.mit.edu 37 1 8420636 8420636 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:8420636T>C ENST00000337907.3 - 19 3565 c.2931A>G c.(2929-2931)acA>acG p.T977T RERE_ENST00000400908.2_Silent_p.T977T|RERE_ENST00000476556.1_Silent_p.T423T|RERE_ENST00000400907.2_Intron|RERE_ENST00000377464.1_Silent_p.T709T NM_012102.3 NP_036234.3 Q9P2R6 RERE_HUMAN arginine-glutamic acid dipeptide (RE) repeats 977 Pro-rich. T -> K (in Ref. 2; no nucleotide entry). multicellular organismal development|NLS-bearing substrate import into nucleus mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) GGGGGTGATGTGTGGACAGGG 0.697000 9 41 0 0 1 0 0 GDF10 2662 broad.mit.edu 37 10 48428793 48428793 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:48428793C>T ENST00000224605.2 - 2 1358 c.1093G>A c.(1093-1095)Gcc>Acc p.A365T NM_004962.3 NP_004953.1 P55107 BMP3B_HUMAN growth differentiation factor 10 365 growth|skeletal system development|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1) 31 TTCCTCCGGGCTTTCTGCATC 0.597000 25 66 0 0 1 0 0 ZBTB40 9923 broad.mit.edu 37 1 22838593 22838593 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:22838593T>C ENST00000404138.1 + 12 2938 c.2427T>C c.(2425-2427)tgT>tgC p.C809C ZBTB40_ENST00000375647.4_Silent_p.C809C|ZBTB40_ENST00000374651.4_Silent_p.C697C NM_001083621.1 NP_001077090.1 Q9NUA8 ZBT40_HUMAN zinc finger and BTB domain containing 40 809 bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) CAGTGACATGTGACCTCTGTG 0.498000 19 68 0 0 1 0 0 SLC43A2 124935 broad.mit.edu 37 17 1486572 1486572 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:1486572G>A ENST00000571650.1 - 12 1594 c.1288C>T c.(1288-1290)Cgg>Tgg p.R430W SLC43A2_ENST00000301335.4_Missense_Mutation_p.R426W|SLC43A2_ENST00000412517.3_Missense_Mutation_p.R289W|SLC43A2_ENST00000382147.4_Missense_Mutation_p.R430W Q8N370 LAT4_HUMAN solute carrier family 43 (amino acid system L transporter), member 2 426 cellular nitrogen compound metabolic process|ion transport integral to membrane|plasma membrane endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1) 12 UCEC - Uterine corpus endometrioid carcinoma (25;0.0883) GCGAAGGCCCGCATGGCATTA 0.622000 47 98 0 0 1 0 0 PTCD1 26024 broad.mit.edu 37 7 99023173 99023173 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:99023173C>T ENST00000292478.4 - 6 1232 c.982G>A c.(982-984)Gca>Aca p.A328T ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.A377T|PTCD1_ENST00000555673.1_Missense_Mutation_p.A377T NM_015545.3 NP_056360.2 pentatricopeptide repeat domain 1 endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1) 27 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) TCCCGAGCTGCCACCAACAGC 0.642000 14 33 0 0 1 0 0 OR2T10 127069 broad.mit.edu 37 1 248756211 248756211 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:248756211G>A ENST00000330500.2 - 1 889 c.859C>T c.(859-861)Cct>Tct p.P287S NM_001004693.1 NP_001004693.1 Q8NGZ9 O2T10_HUMAN olfactory receptor, family 2, subfamily T, member 10 287 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1) 26 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TAAATGATAGGATTCAAGACA 0.388000 13 43 0 0 1 0 0 KIAA1033 23325 broad.mit.edu 37 12 105534990 105534990 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:105534990A>G ENST00000332180.5 + 18 1840 c.1753A>G c.(1753-1755)Aaa>Gaa p.K585E NM_015275.1 NP_056090.1 Q2M389 WAHS7_HUMAN KIAA1033 585 endosome transport WASH complex breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 AGTAGTCATGAAAAAACTGGA 0.373000 7 134 0 0 1 0 0 IL11RA 3590 broad.mit.edu 37 9 34660857 34660857 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:34660857G>A ENST00000555003.1 + 12 2532 c.1176G>A c.(1174-1176)agG>agA p.R392R IL11RA_ENST00000441545.2_Silent_p.R392R|IL11RA_ENST00000318041.9_Silent_p.R392R Q14626 I11RA_HUMAN interleukin 11 receptor, alpha 392 integral to plasma membrane cytokine receptor activity breast(1)|large_intestine(1)|ovary(1)|skin(1) 4 all_epithelial(49;0.102) STAD - Stomach adenocarcinoma(86;0.178) GBM - Glioblastoma multiforme(74;0.174) Oprelvekin(DB00038) CCAGGCTGAGGCTGAGACGGG 0.532000 68 281 0 0 1 0 0 NDUFAF5 79133 broad.mit.edu 37 20 13782163 13782163 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:13782163T>C ENST00000378106.5 + 7 670 c.551T>C c.(550-552)tTt>tCt p.F184S NDUFAF5_ENST00000475968.1_3'UTR|NDUFAF5_ENST00000463598.1_Missense_Mutation_p.F156S NM_024120.4 NP_077025.2 Q5TEU4 CT007_HUMAN NADH dehydrogenase (ubiquinone) complex I, assembly factor 5 184 mitochondrial respiratory chain complex I assembly extrinsic to mitochondrial inner membrane methyltransferase activity GATGGAGTGTTTATCGGTGCA 0.308000 5 36 0 0 1 0 0 MAGEL2 54551 broad.mit.edu 37 15 23890792 23890792 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:23890792G>A ENST00000532292.1 - 1 383 c.289C>T c.(289-291)Ccg>Tcg p.P97S NM_019066.4 NP_061939.3 MAGE-like 2 breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 7 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177) GCTGCTACCGGGGGTCCGGGC 0.637000 4 14 0 0 1 0 0 LRMP 4033 broad.mit.edu 37 12 25260900 25260900 + Missense_Mutation SNP C C T rs116094067 by1000genomes TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:25260900C>T ENST00000354454.3 + 21 2235 c.1406C>T c.(1405-1407)gCc>gTc p.A469V LRMP_ENST00000548766.1_Missense_Mutation_p.A469V|LRMP_ENST00000547044.1_Missense_Mutation_p.A469V NM_006152.3 NP_006143.2 Q12912 LRMP_HUMAN lymphoid-restricted membrane protein 525 vesicle fusion|vesicle targeting endoplasmic reticulum membrane|integral to plasma membrane breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 19 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11) TCTGTGGATGCCGCTCCCACA 0.498000 5 152 0 0 1 0 0 IPO4 79711 broad.mit.edu 37 14 24656326 24656326 + Missense_Mutation SNP T T A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:24656326T>A ENST00000354464.6 - 7 795 c.619A>T c.(619-621)Atc>Ttc p.I207F RP11-468E2.2_ENST00000561419.1_3'UTR NM_024658.3 NP_078934.3 Q8TEX9 IPO4_HUMAN importin 4 207 intracellular protein transport cytoplasm|nucleus protein binding|protein transporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1) 33 GBM - Glioblastoma multiforme(265;0.0087) ATGGCCATGATCAGCTTGGGC 0.572000 34 377 0 0 1 0 0 RBM33 155435 broad.mit.edu 37 7 155534609 155534609 + Missense_Mutation SNP T T A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:155534609T>A ENST00000401878.3 + 13 2344 c.2146T>A c.(2146-2148)Tca>Aca p.S716T NM_053043.2 NP_444271.2 Q96EV2 RBM33_HUMAN RNA binding motif protein 33 716 nucleotide binding|RNA binding breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 27 all_neural(206;0.101) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.011) UCEC - Uterine corpus endometrioid carcinoma (81;0.2) CATAGCGCCGTCACACGTGAT 0.567000 48 136 0 0 1 0 0 CASP8 841 broad.mit.edu 37 2 202149997 202149997 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:202149997T>C ENST00000358485.4 + 8 1634 c.1438T>C c.(1438-1440)Tac>Cac p.Y480H CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000432109.2_Missense_Mutation_p.Y421H|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000323492.7_Missense_Mutation_p.Y406H|CASP8_ENST00000264275.5_Missense_Mutation_p.Y438H|CASP8_ENST00000264274.9_Missense_Mutation_p.Y337H NM_001080125.1 NP_001073594.1 Q14790 CASP8_HUMAN caspase 8, apoptosis-related cysteine peptidase 421 activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor centrosome|cytosol|mitochondrial outer membrane cysteine-type endopeptidase activity|protein binding breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3) 52 GGGAACCTGGTACATCCAGTC 0.527000 HNSCC(4;0.00038) 14 75 0 0 1 0 0 GPN3 51184 broad.mit.edu 37 12 110893704 110893704 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:110893704G>A ENST00000543199.1 - 5 683 c.599C>T c.(598-600)gCc>gTc p.A200V GPN3_ENST00000228827.3_Missense_Mutation_p.A161V|GPN3_ENST00000537466.2_Missense_Mutation_p.A171V NM_001164372.1 NP_001157844.1 Q9UHW5 GPN3_HUMAN GPN-loop GTPase 3 161 protein complex GTP binding endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|urinary_tract(1) 8 AGAGATCATGGCACTCAGGGC 0.413000 16 60 0 0 1 0 0 H2BFM 286436 broad.mit.edu 37 X 103294917 103294917 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chrX:103294917T>C ENST00000243297.5 + 3 683 c.683T>C c.(682-684)cTg>cCg p.L228P H2BFM_ENST00000355016.3_Missense_Mutation_p.L125P H2B histone family, member M endometrium(1)|lung(1)|ovary(1) 3 CGACTGCTGCTGCCGGGGAAG 0.637000 4 2 0 0 1 0 0 PPIP5K2 23262 broad.mit.edu 37 5 102522033 102522033 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:102522033C>T ENST00000321521.9 + 27 3755 c.3182C>T c.(3181-3183)gCg>gTg p.A1061V PPIP5K2_ENST00000358359.3_Missense_Mutation_p.A1061V|PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.A1061V O43314 VIP2_HUMAN diphosphoinositol pentakisphosphate kinase 2 1061 inositol metabolic process cytosol acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 TCTCACTGTGCGGGCCTGTTT 0.488000 25 45 0 0 1 0 0 H2AFY2 55506 broad.mit.edu 37 10 71851566 71851566 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:71851566C>T ENST00000373255.4 + 4 597 c.333C>T c.(331-333)ccC>ccT p.P111P NM_018649.2 NP_061119.1 Q9P0M6 H2AW_HUMAN H2A histone family, member Y2 111 Histone H2A. chromatin modification|dosage compensation|nucleosome assembly Barr body|nucleosome DNA binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1) 15 GAATTCACCCCGAACTGCTGG 0.557000 21 86 0 0 1 0 0 SPATA31E1 286234 broad.mit.edu 37 9 90501484 90501484 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:90501484C>T ENST00000325643.5 + 4 2148 c.2082C>T c.(2080-2082)acC>acT p.T694T NM_178828.4 NP_849150.3 SPATA31 subfamily E, member 1 TGCAGAAGACCGGGTTCAGGA 0.612000 35 83 0 0 1 0 0 PRMT8 56341 broad.mit.edu 37 12 3702332 3702332 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:3702332A>G ENST00000382622.3 + 10 1559 c.1169A>G c.(1168-1170)gAc>gGc p.D390G PRMT8_ENST00000452611.2_Missense_Mutation_p.D381G|PRMT8_ENST00000261252.4_3'UTR NM_019854.4 NP_062828.3 Q9NR22 ANM8_HUMAN protein arginine methyltransferase 8 390 regulation of protein binding cytoplasm|plasma membrane histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264) GTATCTAATGACTACAAAATG 0.502000 20 24 0 0 1 0 0 SLC9A9 285195 broad.mit.edu 37 3 143185939 143185939 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:143185939A>G ENST00000316549.6 - 12 1617 c.1409T>C c.(1408-1410)tTc>tCc p.F470S NM_173653.3 NP_775924.1 Q8IVB4 SL9A9_HUMAN solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9 470 regulation of pH integral to membrane|late endosome membrane|recycling endosome sodium:hydrogen antiporter activity breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1) 57 GACAGTGAAGAACACGAGGAG 0.483000 8 41 0 0 1 0 0 ATF7IP2 80063 broad.mit.edu 37 16 10524744 10524744 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:10524744A>G ENST00000396560.2 + 3 494 c.267A>G c.(265-267)aaA>aaG p.K89K ATF7IP2_ENST00000356427.2_Silent_p.K89K|ATF7IP2_ENST00000324570.5_Silent_p.K89K|ATF7IP2_ENST00000396559.1_Silent_p.K89K|ATF7IP2_ENST00000543967.1_Intron NM_024997.3 NP_079273.2 Q5U623 MCAF2_HUMAN activating transcription factor 7 interacting protein 2 89 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus large_intestine(3) 3 AGAAAAGTAAAGTATTCTCTC 0.338000 18 52 0 0 1 0 0 TRAP1 10131 broad.mit.edu 37 16 3712055 3712055 + Nonsense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:3712055G>A ENST00000575671.1 - 11 1975 c.1246C>T c.(1246-1248)Cag>Tag p.Q416* DNASE1_ENST00000575152.1_3'UTR|DNASE1_ENST00000414110.2_Intron|TRAP1_ENST00000246957.5_Nonsense_Mutation_p.Q625*|TRAP1_ENST00000538171.1_Nonsense_Mutation_p.Q572* Q12931 TRAP1_HUMAN TNF receptor-associated protein 1 625 cellular response to oxidative stress|protein folding mitochondrion ATP binding|tumor necrosis factor receptor binding|unfolded protein binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 Ovarian(90;0.0261) GCCAGCTGCTGCATGCGCAGG 0.672000 9 42 0 0 1 0 0 KDM6A 7403 broad.mit.edu 37 X 44969463 44969463 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chrX:44969463A>G ENST00000377967.4 + 28 4186 c.4145A>G c.(4144-4146)gAc>gGc p.D1382G KDM6A_ENST00000536777.1_Missense_Mutation_p.D1337G|KDM6A_ENST00000479423.1_3'UTR|KDM6A_ENST00000543216.1_Missense_Mutation_p.D1303G|KDM6A_ENST00000382899.4_Missense_Mutation_p.D1389G NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A 1382 histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0?(6) NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29) 170 AAAATGGAGGACCTGATGCAA 0.403000 """D, N, F, S""" """renal, oesophageal SCC, MM""" 36 43 0 0 1 0 0 KMT2E 55904 broad.mit.edu 37 7 104753006 104753006 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:104753006A>G ENST00000334877.4 + 26 5211 c.4677A>G c.(4675-4677)ggA>ggG p.G1559G KMT2E_ENST00000257745.4_Silent_p.G1601G|KMT2E_ENST00000311117.3_Silent_p.G1601G|SRPK2_ENST00000493638.1_Intron lysine (K)-specific methyltransferase 2E CAGTTCCAGGACACCACGTGA 0.502000 4 195 0 0 1 0 0 TRAF6 7189 broad.mit.edu 37 11 36520057 36520057 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:36520057C>T ENST00000526995.1 - 3 676 c.430G>A c.(430-432)Gaa>Aaa p.E144K TRAF6_ENST00000348124.5_Missense_Mutation_p.E144K NM_004620.3 NP_004611.1 Q9Y4K3 TRAF6_HUMAN TNF receptor-associated factor 6, E3 ubiquitin protein ligase 144 Interaction with TAX1BP1. activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|stress-activated MAPK cascade|T cell receptor signaling pathway|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 CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1) 27 all_lung(20;0.211) all_hematologic(20;0.107) TGTCTCAGTTCCATCTTGTGC 0.373000 22 66 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40392046 40392046 + Silent SNP G G A rs147841331 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:40392046G>A ENST00000221347.6 - 17 8347 c.8340C>T c.(8338-8340)tgC>tgT p.C2780C NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 2780 Cys-rich.|TIL 6. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GGATGGGCACGCAGGCTTGGC 0.612000 15 46 0 0 1 0 0 STK36 27148 broad.mit.edu 37 2 219563614 219563614 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:219563614G>A ENST00000295709.3 + 26 3626 c.3347G>A c.(3346-3348)aGc>aAc p.S1116N STK36_ENST00000392105.3_Missense_Mutation_p.S1095N|STK36_ENST00000440309.1_Missense_Mutation_p.S1116N|STK36_ENST00000392106.2_Missense_Mutation_p.S1095N NM_015690.4 NP_056505.2 Q9NRP7 STK36_HUMAN serine/threonine kinase 36 1116 cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus ATP binding|protein serine/threonine kinase activity|transcription factor binding biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 52 Renal(207;0.0915) Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984) CCCCTGCGCAGCCTCCTGGGC 0.602000 4 112 0 0 1 0 0 TRIM39 56658 broad.mit.edu 37 6 30308120 30308120 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:30308120T>C ENST00000376656.4 + 7 1187 c.875T>C c.(874-876)tTa>tCa p.L292S TRIM39-RPP21_ENST00000513556.1_Intron|TRIM39_ENST00000396547.1_Missense_Mutation_p.L292S|TRIM39_ENST00000396548.1_Intron|TRIM39_ENST00000540416.1_Intron|TRIM39_ENST00000376659.5_Intron|TRIM39_ENST00000396551.3_Intron NM_021253.3 NP_067076.2 tripartite motif containing 39 ovary(3) 3 CTCCTTGGATTAGTAAAAGAA 0.408000 12 55 0 0 1 0 0 POU2F3 25833 broad.mit.edu 37 11 120176426 120176426 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:120176426C>T ENST00000260264.4 + 8 741 c.707C>T c.(706-708)gCc>gTc p.A236V POU2F3_ENST00000543440.2_Missense_Mutation_p.A234V NM_001244682.1 NP_001231611.1 Q9UKI9 PO2F3_HUMAN POU class 2 homeobox 3 234 POU-specific. negative regulation by host of viral transcription cytoplasm sequence-specific DNA binding large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1) 17 Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;6.85e-06) CGATTTGAGGCCCTCAACCTG 0.587000 8 139 0 0 1 0 0 DOCK9 23348 broad.mit.edu 37 13 99630082 99630082 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr13:99630082C>T ENST00000376460.1 - 1 162 c.82G>A c.(82-84)Gca>Aca p.A28T DOCK9_ENST00000442173.1_Missense_Mutation_p.A28T|DOCK9_ENST00000339416.2_Intron|DOCK9_ENST00000448493.2_Intron NM_001130048.1|NM_015296.2 NP_001123520.1|NP_056111.1 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 0 blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) CCCTGAGCTGCATCCTTGTAT 0.517000 4 11 0 0 1 0 0 BRMS1L 84312 broad.mit.edu 37 14 36337211 36337211 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:36337211T>C ENST00000216807.7 + 9 1026 c.827T>C c.(826-828)aTt>aCt p.I276T BRMS1L_ENST00000543183.1_Missense_Mutation_p.I228T NM_032352.3 NP_115728.2 Q5PSV4 BRM1L_HUMAN breast cancer metastasis-suppressor 1-like 276 regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 9 Breast(36;0.137)|Hepatocellular(127;0.158) Lung(8;1.7e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.00467)|all cancers(34;0.0157)|BRCA - Breast invasive adenocarcinoma(188;0.158) GBM - Glioblastoma multiforme(112;0.0333) ACAATATGTATTGATAAAAAA 0.353000 4 84 0 0 1 0 0 MAP4K4 9448 broad.mit.edu 37 2 102505386 102505386 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:102505386C>T ENST00000413150.2 + 28 3425 c.3370C>T c.(3370-3372)Cgc>Tgc p.R1124C MAP4K4_ENST00000347699.4_Missense_Mutation_p.R1209C|MAP4K4_ENST00000350878.4_Missense_Mutation_p.R1249C|MAP4K4_ENST00000302217.5_Missense_Mutation_p.R1012C|MAP4K4_ENST00000425019.1_Missense_Mutation_p.R1242C|MAP4K4_ENST00000456652.1_Missense_Mutation_p.R1008C|MAP4K4_ENST00000350198.4_Missense_Mutation_p.R1136C|MAP4K4_ENST00000324219.4_Missense_Mutation_p.R1290C NM_001242560.1|NM_004834.4 NP_001229489.1|NP_004825.3 O95819 M4K4_HUMAN mitogen-activated protein kinase kinase kinase kinase 4 1209 CNH.|Mediates interaction with RAP2A. intracellular protein kinase cascade|regulation of JNK cascade|response to stress cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 CTTGTGTGAACGCAATGACAA 0.398000 9 19 0 0 1 0 0 GTF3C1 2975 broad.mit.edu 37 16 27480660 27480660 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:27480660T>C ENST00000356183.4 - 32 5041 c.5026A>G c.(5026-5028)Aag>Gag p.K1676E GTF3C1_ENST00000561623.1_Missense_Mutation_p.K1676E NM_001520.3 NP_001511.2 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1, alpha 220kDa 1676 transcription factor TFIIIC complex DNA binding|protein binding breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 80 AGCTGGAACTTCATCTGGCAG 0.647000 3 8 0 0 1 0 0 SLC25A13 10165 broad.mit.edu 37 7 95822425 95822425 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:95822425G>A ENST00000416240.2 - 6 729 c.539C>T c.(538-540)gCc>gTc p.A180V SLC25A13_ENST00000542654.1_Missense_Mutation_p.A72V|SLC25A13_ENST00000265631.5_Missense_Mutation_p.A180V NM_001160210.1|NM_014251.2 NP_001153682.1|NP_055066.1 Q9UJS0 CMC2_HUMAN solute carrier family 25 (aspartate/glutamate carrier), member 13 180 EF-hand 4. ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion integral to plasma membrane|mitochondrial inner membrane calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4) 42 all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07) STAD - Stomach adenocarcinoma(171;0.194) L-Aspartic Acid(DB00128) GAAGTCGATGGCTGTGACTCT 0.438000 24 75 0 0 1 0 0 LILRA3 11026 broad.mit.edu 37 19 54802539 54802539 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:54802539T>C ENST00000391745.1 - 9 1269 c.953A>G c.(952-954)tAc>tGc p.Y318C LILRA3_ENST00000391744.3_Missense_Mutation_p.Y237C|LILRA3_ENST00000251390.3_Missense_Mutation_p.Y301C leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GGAGAGGTTGTATGCACCGGA 0.682000 20 30 0 0 1 0 0 ELMSAN1 91748 broad.mit.edu 37 14 74205363 74205363 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:74205363A>G ENST00000286523.5 - 2 2131 c.1349T>C c.(1348-1350)gTg>gCg p.V450A ELMSAN1_ENST00000394071.2_Missense_Mutation_p.V450A NM_194278.3 NP_919254.2 ELM2 and Myb/SANT-like domain containing 1 GCTCTGGATCACTCCGCCCCG 0.667000 20 73 0 0 1 0 0 ELAC1 55520 broad.mit.edu 37 18 48510840 48510840 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr18:48510840T>C ENST00000269466.3 + 3 639 c.532T>C c.(532-534)Ttt>Ctt p.F178L ELAC1_ENST00000591429.1_Missense_Mutation_p.F178L|ELAC1_ENST00000588577.1_Intron|RP11-729L2.2_ENST00000590722.2_Intron|RP11-729L2.2_ENST00000588256.1_Intron|SMAD4_ENST00000452201.2_Intron NM_018696.2 NP_061166.1 Q9H777 RNZ1_HUMAN elaC ribonuclease Z 1 178 tRNA 3'-trailer cleavage nucleus endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding kidney(1)|large_intestine(4)|prostate(1) 6 Colorectal(6;0.0269)|all_epithelial(6;0.0729) Colorectal(21;0.000943)|COAD - Colon adenocarcinoma(17;0.0398)|READ - Rectum adenocarcinoma(32;0.0894)|STAD - Stomach adenocarcinoma(97;0.18) TGTAAAAGCATTTCGCCTCTT 0.403000 17 58 0 0 1 0 0 MYH7B 57644 broad.mit.edu 37 20 33582100 33582100 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:33582100T>C ENST00000262873.7 + 25 2814 c.2722T>C c.(2722-2724)Ttg>Ctg p.L908L NM_020884.3 NP_065935.2 A7E2Y1 MYH7B_HUMAN myosin, heavy chain 7B, cardiac muscle, beta 866 membrane|myosin filament actin binding|ATP binding|motor activity NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 BRCA - Breast invasive adenocarcinoma(18;0.00691) GCTGCGGGGGTTGCGAGGGGC 0.657000 43 115 0 0 1 0 0 S100A7A 338324 broad.mit.edu 37 1 153390569 153390569 + Missense_Mutation SNP C C A rs148917755 byFrequency TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:153390569C>A ENST00000368729.4 + 2 68 c.11C>A c.(10-12)aCt>aAt p.T4N S100A7A_ENST00000329256.2_Missense_Mutation_p.T4N|S100A7A_ENST00000368728.2_Missense_Mutation_p.T4N NM_176823.3 NP_789793.1 Q86SG5 S1A7A_HUMAN S100 calcium binding protein A7A 4 cytoplasm calcium ion binding cervix(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)|stomach(1) 12 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) ATGAGCAACACTCAAGCTGAG 0.423000 41 135 1.22674e-20 1.29326e-20 1 1 0 ARHGEF17 9828 broad.mit.edu 37 11 73021624 73021624 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:73021624C>T ENST00000263674.3 + 1 2291 c.1941C>T c.(1939-1941)ggC>ggT p.G647G NM_014786.3 NP_055601.2 Q96PE2 ARHGH_HUMAN Rho guanine nucleotide exchange factor (GEF) 17 647 actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2) 32 CAGATGAAGGCATTGGGGCAG 0.637000 22 54 0 0 1 0 0 PRSS37 136242 broad.mit.edu 37 7 141537832 141537832 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:141537832G>A ENST00000350549.3 - 3 629 c.258C>T c.(256-258)gtC>gtT p.V86V PRSS37_ENST00000438520.1_Silent_p.V86V NM_001008270.2|NM_001171951.1 NP_001008271.2|NP_001165422.1 A4D1T9 PRS37_HUMAN protease, serine, 37 86 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3) 15 TCCAGTAGCGGACGATCTGAA 0.517000 49 175 0 0 1 0 0 ITGA6 3655 broad.mit.edu 37 2 173344436 173344436 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:173344436A>G ENST00000375221.2 + 11 1776 c.1573A>G c.(1573-1575)Aaa>Gaa p.K525E ITGA6_ENST00000409080.1_Missense_Mutation_p.K486E|ITGA6_ENST00000343713.4_Missense_Mutation_p.K481E|ITGA6_ENST00000264107.7_Missense_Mutation_p.K486E|ITGA6_ENST00000264106.6_Missense_Mutation_p.K525E|ITGA6_ENST00000409532.1_Missense_Mutation_p.K367E P23229 ITA6_HUMAN integrin, alpha 6 525 blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter integrin complex protein binding|receptor activity NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 44 OV - Ovarian serous cystadenocarcinoma(117;0.0979) CCTCCGCCAGAAAACAGCGTG 0.488000 71 234 0 0 1 0 0 MYO15A 51168 broad.mit.edu 37 17 18054751 18054751 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:18054751C>T ENST00000205890.5 + 40 8035 c.7697C>T c.(7696-7698)tCt>tTt p.S2566F NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 2566 Tail. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) ACGCTCAACTCTGAGCACTTC 0.627000 14 109 0 0 1 0 0 FBXL7 23194 broad.mit.edu 37 5 15936691 15936691 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:15936691A>G ENST00000504595.1 + 4 1353 c.872A>G c.(871-873)cAc>cGc p.H291R FBXL7_ENST00000510662.1_Missense_Mutation_p.H244R|FBXL7_ENST00000329673.7_Missense_Mutation_p.H279R NM_001278317.1|NM_012304.3 NP_001265246.1|NP_036436.1 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 291 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 GAAGGCCTGCACACCATCGCG 0.627000 22 55 0 0 1 0 0 RINT1 60561 broad.mit.edu 37 7 105205728 105205728 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:105205728T>C ENST00000257700.2 + 13 2122 c.1891T>C c.(1891-1893)Ttg>Ctg p.L631L EFCAB10_ENST00000485614.1_3'UTR|EFCAB10_ENST00000480514.1_3'UTR NM_021930.4 NP_068749.3 Q6NUQ1 RINT1_HUMAN RAD50 interactor 1 631 RINT1/TIP20. cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport endoplasmic reticulum membrane protein binding central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 TTCCAGATGGTTGTCCTTGCC 0.408000 11 51 0 0 1 0 0 FBLN2 2199 broad.mit.edu 37 3 13679345 13679345 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:13679345A>G ENST00000404922.3 + 18 3741 c.3622A>G c.(3622-3624)Aag>Gag p.K1208E FBLN2_ENST00000535798.1_Missense_Mutation_p.K1187E|FBLN2_ENST00000295760.7_Missense_Mutation_p.K1161E|FBLN2_ENST00000492059.1_Missense_Mutation_p.K1208E NM_001004019.1 NP_001004019.1 P98095 FBLN2_HUMAN fibulin 2 1161 proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1) 24 UCEC - Uterine corpus endometrioid carcinoma (1;0.00416) CGTGGAGATGAAGCTCTGGAG 0.642000 13 208 0 0 1 0 0 SQRDL 58472 broad.mit.edu 37 15 45954196 45954196 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:45954196C>T ENST00000260324.7 + 3 664 c.278C>T c.(277-279)gCc>gTc p.A93V RP11-96O20.4_ENST00000564080.1_Missense_Mutation_p.A93V|SQRDL_ENST00000568606.1_Missense_Mutation_p.A93V NM_021199.2 NP_067022.1 Q9Y6N5 SQRD_HUMAN sulfide quinone reductase-like (yeast) 93 oxidoreductase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2) 11 Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417) all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188) GGTGCTGGTGCCAAACAATTG 0.448000 19 29 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 89981749 89981749 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:89981749A>G ENST00000405460.2 + 29 6523 c.6427A>G c.(6427-6429)Aca>Gca p.T2143A NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 2143 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TGTGACTAGAACAGGAGGAGC 0.413000 9 29 0 0 1 0 0 CHD7 55636 broad.mit.edu 37 8 61777674 61777674 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:61777674G>A ENST00000423902.2 + 38 8655 c.8176G>A c.(8176-8178)Gcc>Acc p.A2726T CHD7_ENST00000524602.1_Missense_Mutation_p.A677T NM_017780.3 NP_060250.2 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 2726 Poly-Ala. central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) AAGTGAGATCGCCAGAGCAGC 0.597000 5 25 0 0 1 0 0 NAV1 89796 broad.mit.edu 37 1 201779810 201779810 + Missense_Mutation SNP A A C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:201779810A>C ENST00000367296.4 + 24 5141 c.4721A>C c.(4720-4722)tAc>tCc p.Y1574S NAV1_ENST00000367295.1_Missense_Mutation_p.Y1180S|NAV1_ENST00000367302.1_Missense_Mutation_p.Y1527S|NAV1_ENST00000367297.4_Missense_Mutation_p.Y1566S|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367300.3_Missense_Mutation_p.Y1514S|NAV1_ENST00000295624.6_Missense_Mutation_p.Y1571S NM_020443.4 NP_065176.3 Q8NEY1 NAV1_HUMAN neuron navigator 1 1574 cell differentiation|nervous system development cytoplasm|microtubule nucleoside-triphosphatase activity|nucleotide binding breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2) 70 TTGGCCGAGTACCTGGTGGAG 0.642000 11 48 0 0 1 0 0 MARS2 92935 broad.mit.edu 37 2 198570956 198570956 + Missense_Mutation SNP T T A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:198570956T>A ENST00000282276.6 + 1 870 c.827T>A c.(826-828)aTc>aAc p.I276N AC011997.1_ENST00000409845.1_Intron NM_138395.3 NP_612404.1 Q96GW9 SYMM_HUMAN methionyl-tRNA synthetase 2, mitochondrial 276 methionyl-tRNA aminoacylation mitochondrial matrix ATP binding|methionine-tRNA ligase activity breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 22 L-Methionine(DB00134) TCGCAGACCATCTATGTATGG 0.557000 24 68 0 0 1 0 0 DIABLO 56616 broad.mit.edu 37 12 122692969 122692969 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:122692969G>A ENST00000464942.2 - 5 1913 c.520C>T c.(520-522)Cgg>Tgg p.R174W B3GNT4_ENST00000546192.1_3'UTR|B3GNT4_ENST00000545141.1_Intron|DIABLO_ENST00000413918.1_Missense_Mutation_p.R183W|DIABLO_ENST00000267169.6_Missense_Mutation_p.R174W|RP11-512M8.5_ENST00000535844.1_3'UTR|DIABLO_ENST00000443649.3_Missense_Mutation_p.R227W|DIABLO_ENST00000353548.6_Missense_Mutation_p.R183W NM_001278304.1 NP_001265233.1 Q9NR28 DBLOH_HUMAN diablo, IAP-binding mitochondrial protein 227 activation of caspase activity by cytochrome c|induction of apoptosis via death domain receptors CD40 receptor complex|cytosol|internal side of plasma membrane|mitochondrial intermembrane space protein binding breast(1)|endometrium(3)|large_intestine(1)|lung(1)|ovary(1) 7 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000302)|Epithelial(86;0.00051)|BRCA - Breast invasive adenocarcinoma(302;0.223) GACTCAGCCCGCTCCTCCCCT 0.607000 71 86 0 0 1 0 0 EPHA8 2046 broad.mit.edu 37 1 22927162 22927162 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:22927162G>A ENST00000166244.3 + 14 2469 c.2397G>A c.(2395-2397)aaG>aaA p.K799K NM_020526.3 NP_065387.1 P29322 EPHA8_HUMAN EPH receptor A8 799 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) AGGGCGGGAAGATCCCCATCC 0.667000 22 65 0 0 1 0 0 CDC27 996 broad.mit.edu 37 17 45219268 45219268 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:45219268A>G ENST00000066544.3 - 12 1595 c.1502T>C c.(1501-1503)gTa>gCa p.V501A CDC27_ENST00000531206.1_Missense_Mutation_p.V507A|CDC27_ENST00000527547.1_Missense_Mutation_p.V500A|CDC27_ENST00000446365.2_Missense_Mutation_p.V440A NM_001114091.1|NM_001256.3 NP_001107563.1|NP_001247.3 P30260 CDC27_HUMAN cell division cycle 27 501 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 TTGGCACAGTACCCAACCAGT 0.353000 39 153 0 0 1 0 0 TFAP2E 339488 broad.mit.edu 37 1 36056327 36056327 + Missense_Mutation SNP G G A rs142726594 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:36056327G>A ENST00000373235.3 + 6 1205 c.997G>A c.(997-999)Gct>Act p.A333T NM_178548.3 NP_848643.2 Q6VUC0 AP2E_HUMAN transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon) 333 H-S-H (helix-span-helix), dimerization. nucleus DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(1) 2 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196) CCGACAGCACGCTGACCCGGG 0.657000 7 17 0 0 1 0 0 ANK2 287 broad.mit.edu 37 4 114294295 114294295 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:114294295A>G ENST00000357077.4 + 44 11713 c.11660A>G c.(11659-11661)tAc>tGc p.Y3887C ANK2_ENST00000510275.2_Missense_Mutation_p.Y485C|ANK2_ENST00000506722.1_Missense_Mutation_p.Y1793C|ANK2_ENST00000394537.3_Missense_Mutation_p.Y1802C|ANK2_ENST00000509550.1_Missense_Mutation_p.Y978C|ANK2_ENST00000264366.6_Missense_Mutation_p.Y3854C NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 3854 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) GAAGAAGAATACATTGATGAG 0.403000 51 137 0 0 1 0 0 CARD14 79092 broad.mit.edu 37 17 78164614 78164614 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:78164614G>A ENST00000573882.1 + 9 1541 c.1005G>A c.(1003-1005)aaG>aaA p.K335K CARD14_ENST00000344227.2_Silent_p.K335K|CARD14_ENST00000573754.1_3'UTR|CARD14_ENST00000570421.1_Silent_p.K335K|CARD14_ENST00000392434.2_Silent_p.K98K Q9BXL6 CAR14_HUMAN caspase recruitment domain family, member 14 335 activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis aggresome|cytoplasm|plasma membrane CARD domain binding NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1) 23 all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908) AGTTCCAGAAGAGTAAGATGG 0.587000 27 106 0 0 1 0 0 SH2D4B 387694 broad.mit.edu 37 10 82363435 82363435 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:82363435G>A ENST00000339284.2 + 5 1174 c.744G>A c.(742-744)acG>acA p.T248T SH2D4B_ENST00000470604.2_Silent_p.T247T|SH2D4B_ENST00000313455.4_Silent_p.T199T NM_207372.2 NP_997255.2 Q5SQS7 SH24B_HUMAN SH2 domain containing 4B 247 endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6) 13 Colorectal(32;0.229) AGAAGGGCACGGTCGCTGGCC 0.692000 6 28 0 0 1 0 0 RBM15B 29890 broad.mit.edu 37 3 51430952 51430952 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:51430952C>T ENST00000323686.4 + 1 2222 c.2122C>T c.(2122-2124)Ctg>Ttg p.L708L NM_013286.4 NP_037418.3 Q8NDT2 RB15B_HUMAN RNA binding motif protein 15B 708 interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent nucleoplasm nucleotide binding|protein binding|RNA binding endometrium(4)|large_intestine(5)|lung(3) 12 BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) GACCAAAAAGCTGAAGAATCT 0.527000 44 139 0 0 1 0 0 GZMK 3003 broad.mit.edu 37 5 54326335 54326335 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:54326335A>G ENST00000231009.2 + 3 356 c.286A>G c.(286-288)Aca>Gca p.T96A CTD-2313F11.1_ENST00000596137.1_RNA|CTD-2313F11.1_ENST00000595218.1_RNA NM_002104.2 NP_002095.1 P49863 GRAK_HUMAN granzyme K (granzyme 3; tryptase II) 96 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4) 15 Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183) CTCCAAACAAACACTGGAGAT 0.398000 4 135 0 0 1 0 0 ATXN1 6310 broad.mit.edu 37 6 16327465 16327465 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:16327465C>T ENST00000244769.4 - 8 2013 c.1077G>A c.(1075-1077)agG>agA p.R359R ATXN1_ENST00000436367.1_Silent_p.R359R NM_000332.3 NP_000323.2 P54253 ATX1_HUMAN ataxin 1 359 cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2) 44 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) CCACCACGTGCCTGGACTCGT 0.677000 48 170 0 0 1 0 0 VWA3B 200403 broad.mit.edu 37 2 98750336 98750336 + Missense_Mutation SNP T T G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:98750336T>G ENST00000477737.1 + 7 1126 c.922T>G c.(922-924)Tcc>Gcc p.S308A VWA3B_ENST00000435344.1_Missense_Mutation_p.S308A|VWA3B_ENST00000451075.2_Missense_Mutation_p.S158A NM_144992.4 NP_659429.4 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 308 NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 TCCTGCATTCTCCACAAAGGA 0.458000 6 247 0 0 1 0 0 SOX6 55553 broad.mit.edu 37 11 15994655 15994655 + Silent SNP T T C rs79401318 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:15994655T>C ENST00000352083.6 - 16 2264 c.2187A>G c.(2185-2187)caA>caG p.Q729Q SOX6_ENST00000316399.6_Silent_p.Q709Q|SOX6_ENST00000528252.1_Silent_p.Q702Q|SOX6_ENST00000396356.3_Silent_p.Q709Q|SOX6_ENST00000527619.1_Silent_p.Q705Q|SOX6_ENST00000528429.1_Silent_p.Q729Q P35712 SOX6_HUMAN SRY (sex determining region Y)-box 6 729 muscle organ development nucleus sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2) 43 TCTGAGGCTGTTGCCTATATA 0.423000 12 39 0 0 1 0 0 TMF1 7110 broad.mit.edu 37 3 69097622 69097622 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:69097622A>G ENST00000543976.1 - 2 480 c.234T>C c.(232-234)ccT>ccC p.P78P CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|TMF1_ENST00000398559.2_Silent_p.P78P|CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000597950.1_RNA NM_007114.2 NP_009045.2 P82094 TMF1_HUMAN TATA element modulatory factor 1 78 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi membrane|nucleus DNA binding|protein binding|transcription cofactor activity cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247) TGATTGCTTTAGGAGAGGCTA 0.458000 62 168 0 0 1 0 0 ZKSCAN3 80317 broad.mit.edu 37 6 28333606 28333606 + Missense_Mutation SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:28333606G>T ENST00000377255.3 + 7 1458 c.1161G>T c.(1159-1161)aaG>aaT p.K387N ZKSCAN3_ENST00000252211.2_Missense_Mutation_p.K387N|ZKSCAN3_ENST00000341464.5_Missense_Mutation_p.K239N NM_001242894.1 NP_001229823.1 Q9BRR0 ZKSC3_HUMAN zinc finger with KRAB and SCAN domains 3 387 positive regulation of transcription, DNA-dependent|viral reproduction nucleus chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1) 21 ACCTTATCAAGCATCAGAGAA 0.502000 4 113 0.150653 0.150988 1 1 0 RASGRF2 5924 broad.mit.edu 37 5 80419549 80419549 + Silent SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:80419549C>A ENST00000265080.4 + 16 2626 c.2559C>A c.(2557-2559)ccC>ccA p.P853P NM_006909.2 NP_008840.1 O14827 RGRF2_HUMAN Ras protein-specific guanine nucleotide-releasing factor 2 853 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane protein binding|Rho guanyl-nucleotide exchange factor activity biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) GCAGATCCCCCTCAACTCCTC 0.527000 15 56 6.72482e-11 6.97693e-11 1 1 0 PAFAH1B1 5048 broad.mit.edu 37 17 2577392 2577392 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:2577392T>C ENST00000397195.5 + 8 1161 c.710T>C c.(709-711)gTa>gCa p.V237A PAFAH1B1_ENST00000397193.3_3'UTR|PAFAH1B1_ENST00000451360.2_Missense_Mutation_p.V66A NM_000430.3 NP_000421.1 P43034 LIS1_HUMAN platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) 237 Interaction with dynein and dynactin. acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1) 11 AGAGAATGGGTACGTATGGTA 0.448000 19 39 0 0 1 0 0 ACTR2 10097 broad.mit.edu 37 2 65480896 65480896 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:65480896T>C ENST00000260641.5 + 5 640 c.483T>C c.(481-483)gaT>gaC p.D161D ACTR2_ENST00000542850.1_Silent_p.D106D|ACTR2_ENST00000377982.4_Silent_p.D166D NM_005722.3 NP_005713.1 P61160 ARP2_HUMAN ARP2 actin-related protein 2 homolog (yeast) 161 cellular component movement Arp2/3 protein complex|cell projection|cytoplasm actin binding|ATP binding NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|prostate(1) 12 ACTCTGGAGATGGTGTGACTC 0.423000 17 178 0 0 1 0 0 ZNF451 26036 broad.mit.edu 37 6 57012089 57012089 + Nonsense_Mutation SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:57012089C>A ENST00000370706.4 + 10 1450 c.1206C>A c.(1204-1206)tgC>tgA p.C402* RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|ZNF451_ENST00000357489.3_Nonsense_Mutation_p.C402*|RP11-203B9.4_ENST00000586432.1_RNA|ZNF451_ENST00000491832.2_Nonsense_Mutation_p.C402*|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA NM_001031623.2 NP_001026794.1 Q9Y4E5 ZN451_HUMAN zinc finger protein 451 402 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 Lung NSC(77;0.145) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) TACTCTATTGCCACAGCAGCG 0.378000 32 77 4.02929e-09 4.1631e-09 1 1 0 MUC17 140453 broad.mit.edu 37 7 100678334 100678334 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:100678334A>G ENST00000306151.4 + 3 3701 c.3637A>G c.(3637-3639)Act>Gct p.T1213A NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1213 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GCCAACCTCAACTCCTGGAGA 0.512000 157 734 0 0 1 0 0 GRIK2 2898 broad.mit.edu 37 6 102503397 102503397 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:102503397T>C ENST00000369138.1 + 15 2994 c.2504T>C c.(2503-2505)gTt>gCt p.V835A GRIK2_ENST00000369134.4_Missense_Mutation_p.V786A|GRIK2_ENST00000413795.1_Missense_Mutation_p.V835A|GRIK2_ENST00000421544.1_Missense_Mutation_p.V835A|GRIK2_ENST00000318991.6_Missense_Mutation_p.V835A|GRIK2_ENST00000369137.3_Missense_Mutation_p.V759A NM_001166247.1 NP_001159719.1 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 835 glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) GTGCTTTCAGTTTTTGTGGCA 0.403000 39 122 0 0 1 0 0 ICAM5 7087 broad.mit.edu 37 19 10405307 10405307 + Missense_Mutation SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:10405307G>T ENST00000221980.4 + 9 2284 c.2221G>T c.(2221-2223)Ggc>Tgc p.G741C NM_003259.3 NP_003250.3 Q9UMF0 ICAM5_HUMAN intercellular adhesion molecule 5, telencephalin 741 cell-cell adhesion integral to plasma membrane breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06) CGTCACTGTGGGCGTGGAATG 0.652000 20 88 4.26978e-12 4.44313e-12 1 1 0 NAP1L4 4676 broad.mit.edu 37 11 2975794 2975794 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:2975794A>G ENST00000380542.4 - 12 1138 c.998T>C c.(997-999)cTg>cCg p.L333P NAP1L4_ENST00000526115.1_Missense_Mutation_p.L333P NM_005969.3 NP_005960.1 Q99733 NP1L4_HUMAN nucleosome assembly protein 1-like 4 333 nucleosome assembly chromatin assembly complex|cytoplasm unfolded protein binding endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|ovary(1) 13 all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211) AGTGAAGTACAGCACAGCCCG 0.507000 18 70 0 0 1 0 0 PCDHGA5 56110 broad.mit.edu 37 5 140745300 140745300 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:140745300G>A ENST00000518069.1 + 1 1403 c.1403G>A c.(1402-1404)gGt>gAt p.G468D PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron NM_018918.2|NM_032054.1 NP_061741.1|NP_114443.1 endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3) 18 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AATCCCAGAGGTGTCTCTATC 0.542000 5 322 0 0 1 0 0 HHLA3 11147 broad.mit.edu 37 1 70820764 70820764 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:70820764A>G ENST00000359875.5 + 1 270 c.130A>G c.(130-132)Aca>Gca p.T44A HHLA3_ENST00000486110.1_3'UTR|HHLA3_ENST00000432224.1_Missense_Mutation_p.T44A|HHLA3_ENST00000531950.1_Missense_Mutation_p.T44A|HHLA3_ENST00000361764.4_Missense_Mutation_p.T44A|HHLA3_ENST00000370940.5_Missense_Mutation_p.T44A NM_001036645.1 NP_001031722.1 Q9XRX5 HHLA3_HUMAN HERV-H LTR-associating 3 44 protein binding large_intestine(3)|lung(1) 4 cagtcaaccaacatttactga 0.507000 10 37 0 0 1 0 0 TRIM8 81603 broad.mit.edu 37 10 104404917 104404917 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:104404917C>T ENST00000302424.6 + 1 665 c.543C>T c.(541-543)gaC>gaT p.D181D NM_030912.2 NP_112174.2 Q9BZR9 TRIM8_HUMAN tripartite motif containing 8 181 cytoplasm|PML body ligase activity|protein homodimerization activity|zinc ion binding endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 15 Colorectal(252;0.122) Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) CGGTGTGCGACGTGGAGATCC 0.642000 7 27 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228464950 228464950 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:228464950G>A ENST00000570156.2 + 28 7889 c.7815G>A c.(7813-7815)gcG>gcA p.A2605A OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.A2230A|OBSCN_ENST00000359599.6_Silent_p.A1077A|OBSCN_ENST00000422127.1_Silent_p.A2230A|OBSCN_ENST00000366709.4_5'UTR NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 1599 Ig-like 25. 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 p.A2230A(2)|p.A2414A(1)|p.A2513A(1) 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) GCGAGTTCGCGGATCAGGGAG 0.642000 6 22 0 0 1 0 0 UBE2S 27338 broad.mit.edu 37 19 55915684 55915684 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:55915684G>A ENST00000264552.9 - 3 501 c.314C>T c.(313-315)gCt>gTt p.A105V UBE2S_ENST00000589978.1_Silent_p.G79G NM_014501.2 NP_055316.2 Q16763 UBE2S_HUMAN ubiquitin-conjugating enzyme E2S 105 activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|exit from mitosis|free ubiquitin chain polymerization|protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination anaphase-promoting complex ATP binding|ubiquitin-protein ligase activity lung(1) 1 Breast(117;0.155) LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.11) GCCCAGCTCAGCCGTCCAGTC 0.637000 10 83 0 0 1 0 0 MYLK 4638 broad.mit.edu 37 3 123471338 123471338 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:123471338T>C ENST00000360772.3 - 6 591 c.213A>G c.(211-213)caA>caG p.Q71Q MYLK_ENST00000346322.5_Silent_p.Q71Q|MYLK_ENST00000359169.1_Silent_p.Q71Q|MYLK_ENST00000475616.1_Silent_p.Q71Q|MYLK_ENST00000360304.3_Silent_p.Q71Q Q15746 MYLK_HUMAN myosin light chain kinase 71 Ig-like C2-type 1. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) TGGTGATGGGTTGCCCGTTTC 0.542000 17 43 0 0 1 0 0 CLMN 79789 broad.mit.edu 37 14 95679679 95679679 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:95679679C>T ENST00000298912.4 - 6 598 c.485G>A c.(484-486)gGc>gAc p.G162D NM_024734.3 NP_079010.2 Q96JQ2 CLMN_HUMAN calmin (calponin-like, transmembrane) 162 Actin-binding. integral to membrane actin binding central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3) 44 Epithelial(152;0.193) TGAGTCTGTGCCCCCTGAGCC 0.552000 26 72 0 0 1 0 0 DEF8 54849 broad.mit.edu 37 16 90015943 90015943 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:90015943T>C ENST00000268676.7 + 2 159 c.70T>C c.(70-72)Ttg>Ctg p.L24L DEF8_ENST00000567874.1_Intron|DEF8_ENST00000563795.1_Intron|DEF8_ENST00000563594.1_Intron|DEF8_ENST00000570182.1_Intron|DEF8_ENST00000569453.1_Intron|DEF8_ENST00000418391.2_Intron NM_207514.2 NP_997397.1 Q6ZN54 DEFI8_HUMAN differentially expressed in FDCP 8 homolog (mouse) 24 intracellular signal transduction zinc ion binding central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1) 12 all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0274) CAGGACGCTGTTGACTCCGCA 0.677000 33 95 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76568831 76568831 + Missense_Mutation SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:76568831A>T ENST00000389840.5 - 3 615 c.491T>A c.(490-492)aTt>aAt p.I164N DNAH17_ENST00000585328.1_Missense_Mutation_p.I164N dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) GTGCTCCGGAATAGGCAGCAA 0.587000 4 18 0 0 1 0 0 POLD1 5424 broad.mit.edu 37 19 50906792 50906792 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:50906792A>G ENST00000440232.2 + 10 1233 c.1180A>G c.(1180-1182)Acc>Gcc p.T394A POLD1_ENST00000595904.1_Missense_Mutation_p.T394A|POLD1_ENST00000599857.1_Missense_Mutation_p.T394A NM_001256849.1|NM_002691.3 NP_001243778.1|NP_002682.2 P28340 DPOD1_HUMAN polymerase (DNA directed), delta 1, catalytic subunit 394 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex 3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 all_neural(266;0.0571) OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195) CGACGTGATCACCGGTTACAA 0.612000 DNA polymerases (catalytic subunits) 9 321 0 0 1 0 0 URB2 9816 broad.mit.edu 37 1 229790109 229790109 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:229790109G>A ENST00000258243.2 + 9 4487 c.4351G>A c.(4351-4353)Gcc>Acc p.A1451T NM_014777.2 NP_055592.2 Q14146 URB2_HUMAN URB2 ribosome biogenesis 2 homolog (S. cerevisiae) 1451 nucleolus breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6) 73 ATTTATGGTGGCCCAGTACGT 0.483000 5 87 0 0 1 0 0 PRC1 9055 broad.mit.edu 37 15 91522491 91522491 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:91522491T>C ENST00000361188.5 - 8 2215 c.1004A>G c.(1003-1005)gAt>gGt p.D335G PRC1_ENST00000361919.3_Missense_Mutation_p.D335G|PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000442656.2_Missense_Mutation_p.D294G|PRC1_ENST00000394249.3_Missense_Mutation_p.D335G O43663 PRC1_HUMAN protein regulator of cytokinesis 1 335 Dimerization. cytokinesis|mitotic spindle elongation cytoplasm|nucleus|spindle microtubule|spindle pole protein binding endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2) 25 Lung NSC(78;0.0987)|all_lung(78;0.175) AATCTCAGCATCGTGGAGCTG 0.403000 25 72 0 0 1 0 0 PTF1A 256297 broad.mit.edu 37 10 23481613 23481613 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:23481613T>C ENST00000376504.3 + 1 358 c.154T>C c.(154-156)Ttc>Ctc p.F52L NM_178161.2 NP_835455.1 Q7RTS3 PTF1A_HUMAN pancreas specific transcription factor, 1a 52 endocrine pancreas development|exocrine pancreas development|regulation of transcription, DNA-dependent|tissue development|transcription, DNA-dependent cytoplasm|transcription factor complex endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1) 7 CGAGGTGGAGTTCCTTAGCCA 0.697000 6 25 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21242616 21242616 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:21242616T>C ENST00000233242.1 - 19 3105 c.2978A>G c.(2977-2979)tAt>tGt p.Y993C NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 993 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GGTCAGCGGATAGTAGGAGGC 0.542000 10 35 0 0 1 0 0 ZXDA 7789 broad.mit.edu 37 X 57935379 57935379 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chrX:57935379C>T ENST00000358697.4 - 1 1688 c.1476G>A c.(1474-1476)acG>acA p.T492T NM_007156.4 NP_009087.1 P98168 ZXDA_HUMAN zinc finger, X-linked, duplicated A 492 Required for interaction with ZXDC. positive regulation of transcription, DNA-dependent nucleus C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1) 37 GTTCGGCCCTCGTGAAAGATT 0.547000 3 46 0 0 1 0 0 DEPDC1B 55789 broad.mit.edu 37 5 59895032 59895032 + Missense_Mutation SNP C C T rs150780889 byFrequency TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:59895032C>T ENST00000265036.5 - 10 1365 c.1298G>A c.(1297-1299)cGt>cAt p.R433H DEPDC1B_ENST00000545085.1_Intron|DEPDC1B_ENST00000453022.2_Intron NM_018369.2 NP_060839.2 Q8WUY9 DEP1B_HUMAN DEP domain containing 1B 433 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2) 17 Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17) ACTAATTTGACGGCAAAATGA 0.393000 13 53 0 0 1 0 0 USP15 9958 broad.mit.edu 37 12 62786084 62786084 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:62786084A>G ENST00000280377.5 + 18 2395 c.2337A>G c.(2335-2337)aaA>aaG p.K779K USP15_ENST00000393654.3_Silent_p.K754K|USP15_ENST00000353364.3_Silent_p.K750K NM_001252078.1 NP_001239007.1 Q9Y4E8 UBP15_HUMAN ubiquitin specific peptidase 15 779 protein deubiquitination|ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 37 GBM - Glioblastoma multiforme(1;0.000276) GBM - Glioblastoma multiforme(28;0.0622) TGGAGTATAAACCTCCTAAAA 0.308000 6 35 0 0 1 0 0 ANO5 203859 broad.mit.edu 37 11 22283690 22283690 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:22283690A>G ENST00000324559.8 + 16 1963 c.1646A>G c.(1645-1647)tAc>tGc p.Y549C CTD-3064C13.1_ENST00000526935.1_RNA NM_001142649.1|NM_213599.2 NP_001136121.1|NP_998764.1 Q75V66 ANO5_HUMAN anoctamin 5 549 chloride channel complex|endoplasmic reticulum membrane chloride channel activity breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 CCTCGAACATACCAGGAGTAT 0.348000 4 81 0 0 1 0 0 SNPH 9751 broad.mit.edu 37 20 1286147 1286147 + Missense_Mutation SNP C C T rs151069955 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:1286147C>T ENST00000381867.1 + 7 1708 c.1066C>T c.(1066-1068)Cgt>Tgt p.R356C SNPH_ENST00000381873.3_Missense_Mutation_p.R312C O15079 SNPH_HUMAN syntaphilin 312 synaptic vesicle docking involved in exocytosis cell junction|integral to membrane|synapse|synaptosome syntaxin-1 binding endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 CATGCAGGAGCGTGCCATCCA 0.622000 25 103 0 0 1 0 0 STRBP 55342 broad.mit.edu 37 9 125890530 125890530 + Silent SNP T T A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:125890530T>A ENST00000447404.2 - 17 2209 c.1905A>T c.(1903-1905)ggA>ggT p.G635G STRBP_ENST00000348403.5_Silent_p.G635G|STRBP_ENST00000360998.3_Silent_p.G621G Q96SI9 STRBP_HUMAN spermatid perinuclear RNA binding protein 635 multicellular organismal development cytoplasm|nucleus DNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2) 26 CATATGGTGTTCCATAGCCTA 0.512000 17 49 0 0 1 0 0 MPO 4353 broad.mit.edu 37 17 56355299 56355299 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:56355299C>T ENST00000340482.3 - 6 1365 c.1189G>A c.(1189-1191)Gtc>Atc p.V397I MPO_ENST00000225275.3_Missense_Mutation_p.V365I|MPO_ENST00000578493.1_5'UTR P05164 PERM_HUMAN myeloperoxidase 365 anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling extracellular space|lysosome|nucleus|stored secretory granule chromatin binding|heme binding|heparin binding|peroxidase activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 46 Cefdinir(DB00535) CGCTGGTTGACGGCCAGCAGC 0.657000 26 65 0 0 1 0 0 FAM135B 51059 broad.mit.edu 37 8 139145030 139145030 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:139145030C>T ENST00000395297.1 - 20 4197 c.4027G>A c.(4027-4029)Gca>Aca p.A1343T NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 1343 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) ATCATTTCTGCATAAACTGGC 0.488000 HNSCC(54;0.14) 7 302 0 0 1 0 0 BUD13 84811 broad.mit.edu 37 11 116627929 116627929 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:116627929T>C ENST00000260210.4 - 9 1722 c.1699A>G c.(1699-1701)Agt>Ggt p.S567G BUD13_ENST00000375445.3_Missense_Mutation_p.S433G NM_032725.3 NP_116114.1 Q9BRD0 BUD13_HUMAN BUD13 homolog (S. cerevisiae) 567 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1) 22 all_hematologic(175;0.0487) all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154) GCTGGACCACTGTAGCGAGGT 0.423000 12 31 0 0 1 0 0 SETDB1 9869 broad.mit.edu 37 1 150936071 150936071 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:150936071A>G ENST00000271640.5 + 20 3713 c.3523A>G c.(3523-3525)Att>Gtt p.I1175V SETDB1_ENST00000368969.4_Missense_Mutation_p.I1175V NM_001145415.1|NM_012432.3 NP_001138887.1|NP_036564.3 Q15047 SETB1_HUMAN SET domain, bifurcated 1 1175 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|Golgi apparatus|nucleus|plasma membrane DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 12 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211) AACCCATGGGATTGCAATTAA 0.507000 71 287 0 0 1 0 0 GRIN3A 116443 broad.mit.edu 37 9 104341488 104341488 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:104341488T>C ENST00000361820.3 - 7 3521 c.2921A>G c.(2920-2922)cAc>cGc p.H974R NM_133445.2 NP_597702.2 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, N-methyl-D-aspartate 3A 974 PPP2CB binding site (By similarity). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1) 80 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) CTGGCTGGTGTGGAGCCAGTA 0.473000 22 73 0 0 1 0 0 RTEL1 51750 broad.mit.edu 37 20 62328129 62328129 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:62328129G>A ENST00000318100.4 + 36 4743 c.3916G>A c.(3916-3918)Gct>Act p.A1306T RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.A1306T|TNFRSF6B_ENST00000369996.1_Silent_p.A3A Q9NZ71 RTEL1_HUMAN regulator of telomere elongation helicase 1 0 DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13) Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107) CCATGAGGGCGCTGGAGGGGC 0.697000 6 7 0 0 1 0 0 KRT3 3850 broad.mit.edu 37 12 53189550 53189550 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:53189550A>G ENST00000417996.2 - 1 351 c.277T>C c.(277-279)Tat>Cat p.Y93H KRT3_ENST00000309505.3_Missense_Mutation_p.Y93H NM_057088.2 NP_476429.2 P12035 K2C3_HUMAN keratin 3 93 Gly-rich.|Head. epithelial cell differentiation|intermediate filament cytoskeleton organization keratin filament structural molecule activity NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1) 23 ccacctccatagccacctgca 0.642000 14 238 0 0 1 0 0 SLC29A4 222962 broad.mit.edu 37 7 5330489 5330489 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:5330489A>G ENST00000396872.2 + 3 457 c.296A>G c.(295-297)tAc>tGc p.Y99C SLC29A4_ENST00000406453.3_Missense_Mutation_p.Y99C|SLC29A4_ENST00000297195.4_Missense_Mutation_p.Y99C NM_001040661.1|NM_153247.2 NP_001035751.1|NP_694979.2 Q7RTT9 S29A4_HUMAN solute carrier family 29 (equilibrative nucleoside transporter), member 4 99 nucleobase, nucleoside and nucleotide metabolic process apical plasma membrane|integral to membrane nucleoside transmembrane transporter activity breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1) 20 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15) CATCACAAGTACCCAGGTGGG 0.627000 31 89 0 0 1 0 0 MACC1 346389 broad.mit.edu 37 7 20198916 20198916 + Silent SNP C C T rs28637443 byFrequency TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:20198916C>T ENST00000400331.5 - 5 1376 c.1068G>A c.(1066-1068)ccG>ccA p.P356P MACC1_ENST00000332878.4_Silent_p.P356P|MACC1_ENST00000589011.1_Silent_p.P356P NM_182762.3 NP_877439.3 Q6ZN28 MACC1_HUMAN metastasis associated in colon cancer 1 356 positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane growth factor activity endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1) 39 CAGCTGGTGACGGAAGAGCTT 0.403000 19 43 0 0 1 0 0 OR8B3 390271 broad.mit.edu 37 11 124266967 124266967 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:124266967T>C ENST00000354597.3 - 1 297 c.281A>G c.(280-282)tAt>tGt p.Y94C NM_001005467.1 NP_001005467.1 Q8NGG8 OR8B3_HUMAN olfactory receptor, family 8, subfamily B, member 3 94 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 14 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) GCACCCAACATAGGAGATAAT 0.368000 28 63 0 0 1 0 0 CFHR5 81494 broad.mit.edu 37 1 196963354 196963354 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:196963354T>C ENST00000367414.5 + 4 703 c.647T>C c.(646-648)tTt>tCt p.F216S CFHR5_ENST00000256785.4_Missense_Mutation_p.F192S NM_030787.3 NP_110414.1 Q9BXR6 FHR5_HUMAN complement factor H-related 5 192 Sushi 4. N -> S (in a breast cancer sample; somatic mutation). complement activation, alternative pathway extracellular region NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 49 TGTTACCAATTTGGGTGGTCA 0.323000 36 108 0 0 1 0 0 GOLGA3 2802 broad.mit.edu 37 12 133363304 133363304 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:133363304C>T ENST00000204726.3 - 14 3439 c.2881G>A c.(2881-2883)Gaa>Aaa p.E961K GOLGA3_ENST00000545875.1_Missense_Mutation_p.E961K|GOLGA3_ENST00000456883.2_Missense_Mutation_p.E961K|GOLGA3_ENST00000450791.2_Missense_Mutation_p.E961K|GOLGA3_ENST00000537452.1_Missense_Mutation_p.E961K NM_005895.3 NP_005886.2 Q08378 GOGA3_HUMAN golgin A3 961 intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) TGCAACTCTTCGATTTGTTTC 0.637000 10 270 0 0 1 0 0 HOXA4 3201 broad.mit.edu 37 7 27170286 27170286 + Missense_Mutation SNP A A G rs144521145 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:27170286A>G ENST00000360046.5 - 1 132 c.67T>C c.(67-69)Tac>Cac p.Y23H HOXA-AS2_ENST00000521159.1_RNA|HOXA3_ENST00000467897.2_Intron|HOXA4_ENST00000428284.2_Missense_Mutation_p.Y23H|HOXA-AS3_ENST00000518848.1_RNA NM_002141.4 NP_002132.3 Q00056 HXA4_HUMAN homeobox A4 23 Pro-rich (part of the transcriptional activation domain). nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6) 12 TGCTGCGCGTACTCCTCGAAG 0.607000 3 15 0 0 1 0 0 ZNF576 79177 broad.mit.edu 37 19 44103349 44103349 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:44103349A>G ENST00000336564.4 + 3 606 c.452A>G c.(451-453)gAc>gGc p.D151G SRRM5_ENST00000526798.1_Intron|ZNF576_ENST00000533118.1_Missense_Mutation_p.D151G|ZNF576_ENST00000391965.2_Missense_Mutation_p.D151G|ZNF576_ENST00000528387.1_Missense_Mutation_p.D151G|ZNF576_ENST00000529930.1_Missense_Mutation_p.D151G|SRRM5_ENST00000607544.1_Intron|ZNF576_ENST00000525771.1_Missense_Mutation_p.D151G NM_001145347.1 NP_001138819.1 Q9H609 ZN576_HUMAN zinc finger protein 576 151 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|prostate(1) 2 Prostate(69;0.0199) TGCGGTCAGGACTTTGCTCAG 0.622000 17 49 0 0 1 0 0 MEGF11 84465 broad.mit.edu 37 15 66223200 66223200 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:66223200T>C ENST00000409699.2 - 11 1541 c.1369A>G c.(1369-1371)Acc>Gcc p.T457A MEGF11_ENST00000288745.3_Missense_Mutation_p.T382A|MEGF11_ENST00000422354.1_Missense_Mutation_p.T457A|MEGF11_ENST00000360698.4_Missense_Mutation_p.T457A|MEGF11_ENST00000395625.2_Missense_Mutation_p.T382A|MEGF11_ENST00000395614.1_5'UTR A6BM72 MEG11_HUMAN multiple EGF-like-domains 11 457 EGF-like 8. basolateral plasma membrane|integral to membrane breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 19 GGGGAGCAGGTGCCACCATTG 0.577000 13 93 0 0 1 0 0 TBC1D2 55357 broad.mit.edu 37 9 100971111 100971111 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:100971111C>T ENST00000375066.5 - 9 2080 c.1989G>A c.(1987-1989)gaG>gaA p.E663E TBC1D2_ENST00000342112.5_Silent_p.E445E|TBC1D2_ENST00000375064.1_Silent_p.E663E|TBC1D2_ENST00000493589.2_5'UTR|TBC1D2_ENST00000375063.1_Silent_p.E203E NM_018421.3 NP_060891.3 Q9BYX2 TBD2A_HUMAN TBC1 domain family, member 2 663 Rab-GAP TBC. cell junction|cytoplasmic membrane-bounded vesicle|nucleus Rab GTPase activator activity breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.55e-37) CAGCAGGGTGCTCGCGGGCCT 0.662000 16 77 0 0 1 0 0 GNA11 2767 broad.mit.edu 37 19 3118981 3118981 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:3118981A>G ENST00000078429.4 + 5 907 c.665A>G c.(664-666)aAc>aGc p.N222S AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR NM_002067.2 NP_002058.2 P29992 GNA11_HUMAN guanine nucleotide binding protein (G protein), alpha 11 (Gq class) 222 activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential cytoplasm|heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16) 161 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181) TGCTTTGAGAACGTGACATCC 0.627000 Mis uveal melanoma 5 159 0 0 1 0 0 DONSON 29980 broad.mit.edu 37 21 34953747 34953747 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr21:34953747T>C ENST00000453626.1 - 8 1215 c.1211A>G c.(1210-1212)aAa>aGa p.K404R DONSON_ENST00000303071.5_Missense_Mutation_p.K404R|DONSON_ENST00000432378.1_Missense_Mutation_p.K404R|DONSON_ENST00000303113.6_Missense_Mutation_p.K390R Q9NYP3 DONS_HUMAN downstream neighbor of SON 404 multicellular organismal development nucleus central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1) 11 GTTGATTCCTTTTACCAACAC 0.403000 16 42 0 0 1 0 0 KIF1A 547 broad.mit.edu 37 2 241658575 241658575 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:241658575G>A ENST00000498729.2 - 47 5308 c.5062C>T c.(5062-5064)Ccg>Tcg p.P1688S KIF1A_ENST00000320389.7_Missense_Mutation_p.P1587S NM_001244008.1 NP_001230937.1 Q12756 KIF1A_HUMAN kinesin family member 1A 1587 anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 66 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) GACGTGTGCGGCTCCAGGAAG 0.647000 10 166 0 0 1 0 0 TAS2R9 50835 broad.mit.edu 37 12 10962520 10962520 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:10962520G>A ENST00000240691.2 - 1 247 c.155C>T c.(154-156)gCc>gTc p.A52V NM_023917.2 NP_076406.1 Q9NYW1 TA2R9_HUMAN taste receptor, type 2, member 9 52 sensory perception of taste integral to membrane taste receptor activity endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 TCTGGAGATGGCCAAGCTGAT 0.408000 54 103 0 0 1 0 0 MRPL45 84311 broad.mit.edu 37 17 36476503 36476503 + Splice_Site SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:36476503A>G ENST00000312513.5 + 6 673 c.510_splice c.e6-1 p.D171_splice NM_032351.4 NP_115727.4 Q9BRJ2 RM45_HUMAN mitochondrial ribosomal protein L45 171 intracellular protein transport|translation mitochondrial inner membrane presequence translocase complex|ribosome P-P-bond-hydrolysis-driven protein transmembrane transporter activity|structural constituent of ribosome breast(3)|endometrium(2)|large_intestine(2)|lung(5)|skin(1) 13 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) TGCCCTTAGGACATGACTTGG 0.468000 5 251 0 0 1 0 0 TRIP6 7205 broad.mit.edu 37 7 100468206 100468206 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:100468206T>C ENST00000200457.4 + 6 1200 c.840T>C c.(838-840)ggT>ggC p.G280G NM_003302.2 NP_003293.2 Q15654 TRIP6_HUMAN thyroid hormone receptor interactor 6 280 LIM zinc-binding 1. focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent cytoplasm|cytoskeleton|focal adhesion|nucleus identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5) 14 Lung NSC(181;0.041)|all_lung(186;0.0581) GCCAGTGTGGTGGCTGCGGAG 0.612000 24 78 0 0 1 0 0 PRRT1 80863 broad.mit.edu 37 6 32117026 32117026 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:32117026C>T ENST00000211413.5 - 4 1018 c.894G>A c.(892-894)caG>caA p.Q298Q PRRT1_ENST00000375152.2_Silent_p.Q217Q|PRRT1_ENST00000375150.2_Silent_p.Q217Q|PRRT1_ENST00000467780.1_5'UTR NM_030651.3 NP_085154.3 Q99946 PRRT1_HUMAN proline-rich transmembrane protein 1 298 response to biotic stimulus integral to membrane breast(2)|endometrium(1)|kidney(1)|lung(2) 6 TCTCGTGGTGCTGCGCGGCGA 0.632000 14 36 0 0 1 0 0 ABCC9 10060 broad.mit.edu 37 12 22078939 22078939 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:22078939T>C ENST00000261200.4 - 3 342 c.343A>G c.(343-345)Act>Gct p.T115A ABCC9_ENST00000538350.1_Missense_Mutation_p.T115A|ABCC9_ENST00000345162.2_Missense_Mutation_p.T115A|ABCC9_ENST00000261201.4_Missense_Mutation_p.T115A|ABCC9_ENST00000326684.4_Missense_Mutation_p.T115A NM_020297.2 NP_064693.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 115 defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) GATGTTGTAGTGGCAACGAAT 0.413000 9 152 0 0 1 0 0 KIF26B 55083 broad.mit.edu 37 1 245849150 245849150 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:245849150G>A ENST00000366518.4 + 9 1826 c.1722G>A c.(1720-1722)ggG>ggA p.G574G KIF26B_ENST00000407071.2_Silent_p.G955G Q2KJY2 KI26B_HUMAN kinesin family member 26B 955 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) CTCAGTTTGGGCCAGAGCAGG 0.592000 13 42 0 0 1 0 0 CBFA2T2 9139 broad.mit.edu 37 20 32198968 32198968 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:32198968A>G ENST00000346541.3 + 4 811 c.274A>G c.(274-276)Aat>Gat p.N92D CBFA2T2_ENST00000359606.3_Missense_Mutation_p.N102D|CBFA2T2_ENST00000397800.1_Missense_Mutation_p.N63D|CBFA2T2_ENST00000342704.5_Missense_Mutation_p.N83D|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.N92D|CBFA2T2_ENST00000344201.3_Missense_Mutation_p.N63D|CBFA2T2_ENST00000397798.2_Missense_Mutation_p.N63D NM_005093.3 NP_005084.1 O43439 MTG8R_HUMAN core-binding factor, runt domain, alpha subunit 2; translocated to, 2 92 Pro-rich. nucleus protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2) 20 GAGATTCAGCAATGGTCCTGC 0.483000 7 148 0 0 1 0 0 HECTD4 283450 broad.mit.edu 37 12 112665919 112665919 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:112665919A>G ENST00000550722.1 - 43 6785 c.6390T>C c.(6388-6390)gtT>gtC p.V2130V HECTD4_ENST00000430131.2_Silent_p.V1854V|HECTD4_ENST00000377560.5_Silent_p.V2104V NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 CAAGGAGCCGAACGACTGCCA 0.537000 24 128 0 0 1 0 0 PSMB5 5693 broad.mit.edu 37 14 23495455 23495455 + Missense_Mutation SNP T T C rs60224002 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:23495455T>C ENST00000361611.6 - 3 898 c.635A>G c.(634-636)tAt>tGt p.Y212C PSMB5_ENST00000425762.2_Missense_Mutation_p.Y109C|PSMB5_ENST00000493471.2_3'UTR|PSMB5_ENST00000460922.2_3'UTR NM_002797.3 NP_002788.1 P28074 PSB5_HUMAN proteasome (prosome, macropain) subunit, beta type, 5 212 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus protein binding|threonine-type endopeptidase activity kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1) 7 all_cancers(95;3.3e-05) GBM - Glioblastoma multiforme(265;0.0121) Bortezomib(DB00188) GGCCAGATCATAGGCCTGCTC 0.567000 28 227 0 0 1 0 0 CELSR1 9620 broad.mit.edu 37 22 46790092 46790092 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr22:46790092T>C ENST00000262738.3 - 14 5910 c.5911A>G c.(5911-5913)Agc>Ggc p.S1971G NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 1971 EGF-like 7; calcium-binding. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) AAGCCTTTGCTGACGGCACAG 0.592000 23 63 0 0 1 0 0 NEUROD6 63974 broad.mit.edu 37 7 31378346 31378346 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:31378346G>A ENST00000297142.3 - 2 859 c.537C>T c.(535-537)ggC>ggT p.G179G NM_022728.2 NP_073565.2 Q96NK8 NDF6_HUMAN neuronal differentiation 6 179 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 32 GCTGCAAGCAGCCTGCCACCA 0.517000 42 102 0 0 1 0 0 HAS2 3037 broad.mit.edu 37 8 122641078 122641078 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:122641078G>A ENST00000303924.4 - 2 1040 c.503C>T c.(502-504)tCg>tTg p.S168L NM_005328.2 NP_005319.1 Q92819 HAS2_HUMAN hyaluronan synthase 2 168 integral to plasma membrane hyaluronan synthase activity HAS2/PLAG1(10) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1) 38 Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142) STAD - Stomach adenocarcinoma(47;0.00503) TACGTGTTGCGAGCTTTCTTT 0.448000 167 276 0 0 1 0 0 KDM8 79831 broad.mit.edu 37 16 27231984 27231984 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:27231984C>T ENST00000286096.4 + 8 1357 c.1184C>T c.(1183-1185)cCg>cTg p.P395L KDM8_ENST00000380948.2_Missense_Mutation_p.P199L|KDM8_ENST00000441782.2_Missense_Mutation_p.P433L|KDM8_ENST00000568965.1_Missense_Mutation_p.P199L|KDM8_ENST00000567785.1_3'UTR NM_024773.2 NP_079049.2 Q8N371 KDM8_HUMAN lysine (K)-specific demethylase 8 395 JmjC. G2/M transition of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus chromatin binding|histone demethylase activity (H3-K36 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen CTGTTCATCCCGGTGAAATAC 0.552000 47 175 0 0 1 0 0 PROC 5624 broad.mit.edu 37 2 128180493 128180493 + Splice_Site SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:128180493C>T ENST00000453608.2 + 4 309 c.300_splice c.e4-1 p.L101_splice PROC_ENST00000409048.1_Splice_Site_p.L80_splice|PROC_ENST00000422777.3_Splice_Site_p.L80_splice|PROC_ENST00000234071.3_Splice_Site_p.L80_splice P04070 PROC_HUMAN protein C (inactivator of coagulation factors Va and VIIIa) 80 EGF-like 1. blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis endoplasmic reticulum lumen|Golgi lumen|plasma membrane calcium ion binding|protein binding|serine-type endopeptidase activity endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1) 15 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0673) Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464) CTCTCCGCAGCTGGCCTTCTG 0.741000 3 6 0 0 1 0 0 CAP1 10487 broad.mit.edu 37 1 40535434 40535434 + Missense_Mutation SNP G G A rs35749351 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:40535434G>A ENST00000372797.3 + 9 1442 c.881G>A c.(880-882)cGc>cAc p.R294H CAP1_ENST00000372798.1_Missense_Mutation_p.R293H|CAP1_ENST00000479759.1_3'UTR|CAP1_ENST00000372805.3_Missense_Mutation_p.R294H|CAP1_ENST00000372792.2_Missense_Mutation_p.R294H|CAP1_ENST00000372802.1_Missense_Mutation_p.R293H|CAP1_ENST00000340450.3_Missense_Mutation_p.R293H NM_001105530.1|NM_006367.3 NP_001099000.1|NP_006358.1 Q01518 CAP1_HUMAN CAP, adenylate cyclase-associated protein 1 (yeast) 294 activation of adenylate cyclase activity|axon guidance|establishment or maintenance of cell polarity|platelet activation|platelet degranulation|signal transduction plasma membrane actin binding endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1) 12 Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GGTCCAGTACGCAGTGGCCCC 0.522000 58 198 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56473886 56473886 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:56473886G>A ENST00000370754.5 - 39 5440 c.5441C>T c.(5440-5442)gCt>gTt p.A1814V DST_ENST00000370769.4_Missense_Mutation_p.A1636V|DST_ENST00000312431.6_Missense_Mutation_p.A1636V|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000446842.2_Missense_Mutation_p.A1310V|DST_ENST00000361203.3_Missense_Mutation_p.A1636V|DST_ENST00000244364.6_Intron Q03001 DYST_HUMAN dystonin 1636 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) AGGTGACGCAGCAGAAATAAT 0.408000 6 308 0 0 1 0 0 TRAV27 28655 broad.mit.edu 37 14 22616437 22616437 + RNA SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:22616437G>T ENST00000390457.2 + 0 275 GCCTGGGGAAGGTCCTGTCCT 0.468000 17 55 1.15088e-07 1.18287e-07 1 1 0 ZEB1 6935 broad.mit.edu 37 10 31816166 31816166 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:31816166T>C ENST00000446923.2 + 9 3692 c.3301T>C c.(3301-3303)Tct>Cct p.S1101P ZEB1_ENST00000542815.3_Missense_Mutation_p.S1050P|ZEB1_ENST00000320985.10_Missense_Mutation_p.S1117P|ZEB1_ENST00000361642.5_Missense_Mutation_p.S1118P|ZEB1_ENST00000560721.2_Missense_Mutation_p.S1097P NM_001128128.2|NM_001174094.1 NP_001121600.1|NP_001167565.1 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 1117 Glu-rich (acidic). cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4) 77 Prostate(175;0.0156) TGAGCAAGTGTCTGAAGAAAA 0.373000 16 35 0 0 1 0 0 BBS1 582 broad.mit.edu 37 11 66281968 66281968 + Missense_Mutation SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:66281968C>A ENST00000419755.3 + 4 440 c.362C>A c.(361-363)gCt>gAt p.A121D BBS1_ENST00000455748.2_Missense_Mutation_p.A84D|BBS1_ENST00000393994.2_Missense_Mutation_p.A84D|BBS1_ENST00000537537.1_5'UTR|BBS1_ENST00000529766.1_3'UTR|BBS1_ENST00000318312.7_Missense_Mutation_p.A84D CCGCTACCTGCTCTGCCAGCT 0.607000 8 368 0.000274275 0.00027791 1 1 0 FBXO46 23403 broad.mit.edu 37 19 46216140 46216140 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:46216140T>C ENST00000317683.3 - 2 747 c.614A>G c.(613-615)gAg>gGg p.E205G NM_001080469.1 NP_001073938.1 Q6PJ61 FBX46_HUMAN F-box protein 46 205 protein binding breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1) 15 Ovarian(192;0.179)|all_neural(266;0.224) OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201) TCCACCTTGCTCGGCGGACAC 0.687000 21 22 0 0 1 0 0 LINC00842 643650 broad.mit.edu 37 10 47133306 47133306 + RNA SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:47133306T>C ENST00000422732.2 - 0 435 NR_033957.1 TCTCTGGCTCTCCTCTCCTGC 0.483000 10 42 0 0 1 0 0 ABCE1 6059 broad.mit.edu 37 4 146033465 146033465 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:146033465T>C ENST00000296577.4 + 9 1300 c.785T>C c.(784-786)cTa>cCa p.L262P ABCE1_ENST00000502803.1_Intron|OTUD4_ENST00000455611.2_Intron NM_001040876.1|NM_002940.2 NP_001035809.1|NP_002931.2 P61221 ABCE1_HUMAN ATP-binding cassette, sub-family E (OABP), member 1 262 ABC transporter 1. interspecies interaction between organisms|response to virus|RNA catabolic process mitochondrion ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3) 18 all_hematologic(180;0.151) ATACGATCTCTAATAAATCCA 0.328000 8 13 0 0 1 0 0 M6PR 4074 broad.mit.edu 37 12 9098992 9098992 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:9098992A>G ENST00000000412.3 - 2 477 c.9T>C c.(7-9)ccT>ccC p.P3P NM_002355.3 NP_002346.1 P20645 MPRD_HUMAN mannose-6-phosphate receptor (cation dependent) 3 endosome to lysosome transport|receptor-mediated endocytosis cell surface|endosome|integral to plasma membrane|lysosomal membrane mannose binding|mannose transmembrane transporter activity|transmembrane receptor activity cervix(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(1) 11 Hepatocellular(102;0.137) BRCA - Breast invasive adenocarcinoma(232;0.0146) AGCTGTAGAAAGGGAACATCC 0.488000 14 71 0 0 1 0 0 TUBA3E 112714 broad.mit.edu 37 2 130949633 130949633 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:130949633A>G ENST00000312988.7 - 5 1224 c.1124T>C c.(1123-1125)gTg>gCg p.V375A NM_207312.2 NP_997195.1 Q6PEY2 TBA3E_HUMAN tubulin, alpha 3e 375 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2) 28 Colorectal(110;0.1) CAGCATGCACACGGCCCGCTG 0.612000 5 128 0 0 1 0 0 LRIT1 26103 broad.mit.edu 37 10 85991728 85991728 + Silent SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:85991728G>T ENST00000372105.3 - 4 1848 c.1827C>A c.(1825-1827)gcC>gcA p.A609A NM_015613.2 NP_056428.1 Q9P2V4 LRIT1_HUMAN leucine-rich repeat, immunoglobulin-like and transmembrane domains 1 609 integral to endoplasmic reticulum membrane breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1) 23 TGACTCCAAAGGCCTGAAAGT 0.577000 8 28 0.000157383 0.00015972 1 1 0 CDCA2 157313 broad.mit.edu 37 8 25364677 25364677 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:25364677G>A ENST00000330560.3 + 15 2972 c.2495G>A c.(2494-2496)cGt>cAt p.R832H CDCA2_ENST00000521098.2_3'UTR|CDCA2_ENST00000380665.3_Missense_Mutation_p.R817H NM_152562.2 NP_689775.2 Q69YH5 CDCA2_HUMAN cell division cycle associated 2 832 cell division|mitosis cytoplasm|nucleus breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3) 35 all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191) UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443) GATAGAAGACGTTCCATGTGT 0.398000 18 83 0 0 1 0 0 PTPN1 5770 broad.mit.edu 37 20 49197817 49197817 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:49197817T>C ENST00000371621.3 + 9 1278 c.1104T>C c.(1102-1104)acT>acC p.T368T PTPN1_ENST00000541713.1_Silent_p.T295T NM_001278618.1|NM_002827.2 NP_001265547.1|NP_002818.1 P18031 PTN1_HUMAN protein tyrosine phosphatase, non-receptor type 1 368 blood coagulation|interferon-gamma-mediated signaling pathway|negative regulation of insulin receptor signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytosol|endoplasmic reticulum membrane protein tyrosine phosphatase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2) 16 Lung NSC(126;0.163) Clodronate(DB00720)|Tiludronate(DB01133) GTCAAGACACTGAAGTTAGAA 0.552000 18 62 0 0 1 0 0 KCNG1 3755 broad.mit.edu 37 20 49620945 49620945 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:49620945G>A ENST00000371571.4 - 3 1458 c.1173C>T c.(1171-1173)ttC>ttT p.F391F RP5-955M13.4_ENST00000424566.1_RNA|RP5-955M13.3_ENST00000506387.1_RNA NM_002237.3 NP_002228.2 Q9UIX4 KCNG1_HUMAN potassium voltage-gated channel, subfamily G, member 1 391 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 GCAGGGGCGCGAAGAGGGCGA 0.677000 14 32 0 0 1 0 0 ULK4 54986 broad.mit.edu 37 3 41938363 41938363 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:41938363A>G ENST00000301831.4 - 15 1943 c.1481T>C c.(1480-1482)gTg>gCg p.V494A ULK4_ENST00000420927.1_Missense_Mutation_p.V494A NM_017886.2 NP_060356.2 Q96C45 ULK4_HUMAN unc-51 like kinase 4 494 ATP binding|protein serine/threonine kinase activity breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1) 22 KIRC - Kidney renal clear cell carcinoma(284;0.214) ACCAGCCACCACGCACAAATA 0.517000 31 97 0 0 1 0 0 CASP6 839 broad.mit.edu 37 4 110618836 110618836 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:110618836G>A ENST00000265164.2 - 3 249 c.172C>T c.(172-174)Cac>Tac p.H58Y CASP6_ENST00000505486.1_Missense_Mutation_p.H58Y|CASP6_ENST00000352981.3_Intron NM_001226.3 NP_001217.2 P55212 CASP6_HUMAN caspase 6, apoptosis-related cysteine peptidase 58 cellular component disassembly involved in apoptosis|induction of apoptosis|proteolysis cytosol|nucleoplasm cysteine-type endopeptidase activity|protein binding breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1) 8 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000171) AGTGTTAAGTGCCAAAAGAAC 0.428000 14 55 0 0 1 0 0 RORC 6097 broad.mit.edu 37 1 151787617 151787617 + Missense_Mutation SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:151787617G>T ENST00000356728.6 - 4 674 c.520C>A c.(520-522)Ctc>Atc p.L174I RORC_ENST00000392697.3_Missense_Mutation_p.L249I|RORC_ENST00000318247.6_Missense_Mutation_p.L195I NM_001001523.1 NP_001001523.1 P51449 RORG_HUMAN RAR-related orphan receptor C 195 Hinge (Potential). regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) GCCCCATTGAGCCCTGCCTTG 0.622000 15 19 1.3612e-06 1.39554e-06 1 1 0 TRMT6 51605 broad.mit.edu 37 20 5924869 5924869 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:5924869T>C ENST00000203001.2 - 4 527 c.397A>G c.(397-399)Aca>Gca p.T133A TRMT6_ENST00000473131.1_5'UTR|TRMT6_ENST00000453074.2_5'UTR NM_015939.3 NP_057023.2 Q9UJA5 TRM6_HUMAN tRNA methyltransferase 6 homolog (S. cerevisiae) 133 regulation of translational initiation|tRNA processing nucleus protein binding|translation initiation factor activity breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1) 15 CGGAATGTTGTACTATTTTCA 0.284000 5 24 0 0 1 0 0 KIF7 374654 broad.mit.edu 37 15 90190254 90190254 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:90190254A>G ENST00000394412.3 - 7 1671 c.1595T>C c.(1594-1596)gTg>gCg p.V532A NM_198525.2 NP_940927.2 Q2M1P5 KIF7_HUMAN kinesin family member 7 532 microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway cilium ATP binding|microtubule motor activity|protein binding central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1) 25 Lung NSC(78;0.0237)|all_lung(78;0.0478) BRCA - Breast invasive adenocarcinoma(143;0.128) CCGCAGTTCCACCATCTCCTC 0.652000 OREG0023460 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 22 0 0 1 0 0 LAMB1 3912 broad.mit.edu 37 7 107576055 107576055 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:107576055T>C ENST00000393561.1 - 25 4249 c.4065A>G c.(4063-4065)gcA>gcG p.A1355A LAMB1_ENST00000222399.6_Silent_p.A1331A|LAMB1_ENST00000474380.1_5'UTR P07942 LAMB1_HUMAN laminin, beta 1 1331 Domain II. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3) 82 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CCCTCTCCTCTGCCTCAAGAG 0.493000 36 133 0 0 1 0 0 DBN1 1627 broad.mit.edu 37 5 176895114 176895114 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:176895114T>C ENST00000292385.5 - 4 865 c.256A>G c.(256-258)Aac>Gac p.N86D DBN1_ENST00000309007.5_Missense_Mutation_p.N84D|DBN1_ENST00000393565.1_Missense_Mutation_p.N84D NM_080881.2 NP_543157.1 Q16643 DREB_HUMAN drebrin 1 84 ADF-H. actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity actomyosin|cytoplasm|dendrite actin binding|profilin binding breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2) 25 all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CATACCCAGTTGATGAGCACG 0.617000 113 393 0 0 1 0 0 VPS16 64601 broad.mit.edu 37 20 2841160 2841160 + Silent SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:2841160C>A ENST00000380445.3 + 5 507 c.435C>A c.(433-435)gcC>gcA p.A145A VPS16_ENST00000380469.3_Silent_p.A145A NM_022575.2 NP_072097.2 Q9H269 VPS16_HUMAN vacuolar protein sorting 16 homolog (S. cerevisiae) 145 intracellular protein transport early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 37 CCGGAGTGGCCATCCTCACAG 0.607000 22 74 1.28384e-07 1.31923e-07 1 1 0 NAA16 79612 broad.mit.edu 37 13 41941733 41941733 + Missense_Mutation SNP G G C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr13:41941733G>C ENST00000379406.3 + 14 2022 c.1698G>C c.(1696-1698)ttG>ttC p.L566F NAA16_ENST00000497143.1_3'UTR NM_024561.4 NP_078837.3 Q6N069 NAA16_HUMAN N(alpha)-acetyltransferase 16, NatA auxiliary subunit 566 N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent cytoplasm|transcription factor complex binding breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2) 31 AAATATACTTGAAATTGTATG 0.328000 8 24 0 0 1 0 0 DPP4 1803 broad.mit.edu 37 2 162902056 162902056 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:162902056A>G ENST00000360534.3 - 5 912 c.352T>C c.(352-354)Tac>Cac p.Y118H NM_001935.3 NP_001926.2 P27487 DPP4_HUMAN dipeptidyl-peptidase 4 118 cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 48 Sitagliptin(DB01261) ACGTAGTTGTATTCTAAGAGA 0.303000 12 53 0 0 1 0 0 MYO5A 4644 broad.mit.edu 37 15 52697557 52697557 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:52697557C>T ENST00000399231.3 - 9 1223 c.980G>A c.(979-981)cGa>cAa p.R327Q MYO5A_ENST00000553916.1_Missense_Mutation_p.R327Q|MYO5A_ENST00000356338.6_Missense_Mutation_p.R327Q|MYO5A_ENST00000399233.2_Missense_Mutation_p.R327Q|MYO5A_ENST00000358212.6_Missense_Mutation_p.R327Q NM_000259.3 NP_000250.3 Q9Y4I1 MYO5A_HUMAN myosin VA (heavy chain 12, myoxin) 327 Myosin head-like. actin filament-based movement|transport cytoplasm|growth cone|myosin complex|ruffle actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1) 57 all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196) AGCAAGTATTCGGAAAATTCC 0.378000 12 34 0 0 1 0 0 KDM7A 80853 broad.mit.edu 37 7 139798694 139798694 + Missense_Mutation SNP G G C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:139798694G>C ENST00000397560.2 - 14 2000 c.1903C>G c.(1903-1905)Caa>Gaa p.Q635E JHDM1D_ENST00000006967.5_Missense_Mutation_p.Q635E NM_030647.1 NP_085150.1 Q6ZMT4 KDM7_HUMAN 635 midbrain development|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1) 22 Melanoma(164;0.0142) AGTGGTTTTTGAGATTCTTCA 0.303000 6 39 0 0 1 0 0 KIF1B 23095 broad.mit.edu 37 1 10386368 10386368 + Missense_Mutation SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:10386368G>T ENST00000377086.1 + 27 3077 c.2875G>T c.(2875-2877)Ggg>Tgg p.G959W KIF1B_ENST00000263934.6_Missense_Mutation_p.G913W|KIF1B_ENST00000377081.1_Missense_Mutation_p.G959W O60333 KIF1B_HUMAN kinesin family member 1B 959 anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2) 71 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) CTTCAGTGACGGGCATGACCC 0.527000 34 101 3.11337e-16 3.26767e-16 1 1 0 APEX1 328 broad.mit.edu 37 14 20924986 20924986 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:20924986C>T ENST00000216714.3 + 4 674 c.406C>T c.(406-408)Cgc>Tgc p.R136C APEX1_ENST00000555414.1_Missense_Mutation_p.R136C|APEX1_ENST00000557054.1_Intron|APEX1_ENST00000557365.1_3'UTR|APEX1_ENST00000398030.4_Missense_Mutation_p.R136C NM_001244249.1|NM_001641.3 NP_001231178.1|NP_001632.2 P27695 APEX1_HUMAN APEX nuclease (multifunctional DNA repair enzyme) 1 136 base-excision repair|DNA demethylation|DNA recombination|positive regulation of anti-apoptosis|positive regulation of DNA repair|regulation of mRNA stability|regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|endoplasmic reticulum|mitochondrion|nuclear speck|nucleolus|perinuclear region of cytoplasm|ribosome 3'-5' exonuclease activity|chromatin DNA binding|damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|metal ion binding|oxidoreductase activity|phosphodiesterase I activity|protein binding|ribonuclease H activity|RNA binding|site-specific endodeoxyribonuclease activity, specific for altered base|transcription coactivator activity|transcription corepressor activity|uracil DNA N-glycosylase activity breast(2)|endometrium(1)|large_intestine(4)|ovary(2) 9 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;1.09e-07)|all cancers(55;1.19e-06) GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193) Lucanthone(DB04967) CCTGCTTTCCCGCCAGTGCCC 0.507000 Other BER factors 3 31 0 0 1 0 0 SVEP1 79987 broad.mit.edu 37 9 113189972 113189972 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:113189972A>G ENST00000401783.2 - 36 6210 c.5874T>C c.(5872-5874)tgT>tgC p.C1958C SVEP1_ENST00000297826.5_5'UTR|SVEP1_ENST00000374469.1_Silent_p.C1935C NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 1958 Sushi 9. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 AGACGAGGTGACAGGCAGGTG 0.498000 OREG0019389 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 43 108 0 0 1 0 0 CFAP221 200373 broad.mit.edu 37 2 120388409 120388409 + Missense_Mutation SNP T T A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:120388409T>A ENST00000602047.1 + 20 2160 c.1048T>A c.(1048-1050)Tca>Aca p.S350T PCDP1_ENST00000413369.3_Missense_Mutation_p.S636T Q4G0U5 PCDP1_HUMAN 636 cilium calmodulin binding Colorectal(110;0.196) TGGCAAAACATCAGTCTTGAG 0.458000 49 122 0 0 1 0 0 NLRP7 199713 broad.mit.edu 37 19 55451637 55451637 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:55451637T>C ENST00000588756.1 - 6 1036 c.550A>G c.(550-552)Aaa>Gaa p.K184E NLRP7_ENST00000328092.5_Missense_Mutation_p.K184E|NLRP7_ENST00000592784.1_Missense_Mutation_p.K184E|NLRP7_ENST00000590030.1_Missense_Mutation_p.K184E|NLRP7_ENST00000340844.2_Missense_Mutation_p.K184E|NLRP7_ENST00000448121.2_Missense_Mutation_p.K184E|NLRP7_ENST00000446217.1_Missense_Mutation_p.K212E Q8WX94 NALP7_HUMAN NLR family, pyrin domain containing 7 184 NACHT. ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) AGCGTGGTTTTCCCCACGCCT 0.567000 5 168 0 0 1 0 0 TRAF3 7187 broad.mit.edu 37 14 103372013 103372013 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:103372013C>T ENST00000560371.1 + 11 1816 c.1599C>T c.(1597-1599)ggC>ggT p.G533G TRAF3_ENST00000392745.2_Silent_p.G533G|TRAF3_ENST00000351691.5_Silent_p.G508G|TRAF3_ENST00000347662.4_Silent_p.G508G|TRAF3_ENST00000539721.1_Silent_p.G450G NM_003300.3|NM_145725.2 NP_003291.2|NP_663777.1 Q13114 TRAF3_HUMAN TNF receptor-associated factor 3 533 MATH. apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2) 30 all_cancers(154;7.87e-06)|all_epithelial(191;0.0024) Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971) TCGCCTCTGGCTGCCCAGTCT 0.468000 41 144 0 0 1 0 0 INSRR 3645 broad.mit.edu 37 1 156819090 156819090 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:156819090A>G ENST00000368195.3 - 6 1788 c.1392T>C c.(1390-1392)ggT>ggC p.G464G NTRK1_ENST00000392302.2_Intron NM_014215.2 NP_055030.1 P14616 INSRR_HUMAN insulin receptor-related receptor 464 protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 42 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) TGTTCTGCCGACCTCGCGTGC 0.642000 15 104 0 0 1 0 0 CACNG4 27092 broad.mit.edu 37 17 65026608 65026608 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:65026608G>A ENST00000262138.3 + 4 474 c.472G>A c.(472-474)Gtc>Atc p.V158I NM_014405.3 NP_055220.1 Q9UBN1 CCG4_HUMAN calcium channel, voltage-dependent, gamma subunit 4 158 membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane voltage-gated calcium channel activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3) 19 all_cancers(12;9.86e-11) BRCA - Breast invasive adenocarcinoma(6;1.35e-07) CGGTATCATCGTCTACATTTC 0.552000 60 165 0 0 1 0 0 WHSC1 7468 broad.mit.edu 37 4 1961207 1961207 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:1961207C>T ENST00000382895.3 + 19 3426 c.2995C>T c.(2995-2997)Cct>Tct p.P999S WHSC1_ENST00000382888.3_Missense_Mutation_p.P347S|WHSC1_ENST00000382891.5_Missense_Mutation_p.P999S|WHSC1_ENST00000382892.2_Missense_Mutation_p.P999S|WHSC1_ENST00000508803.1_Missense_Mutation_p.P999S|WHSC1_ENST00000482415.2_3'UTR NM_133330.2 NP_579877.1 O96028 NSD2_HUMAN Wolf-Hirschhorn syndrome candidate 1 999 anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|cytoplasm|nuclear membrane|nucleolus DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 48 all_epithelial(65;1.34e-05) OV - Ovarian serous cystadenocarcinoma(23;0.00606) STAD - Stomach adenocarcinoma(129;0.232) GGTGAATAAGCCTTACGGGAA 0.512000 T IGH@ MM 14 66 0 0 1 0 0 PLXNA1 5361 broad.mit.edu 37 3 126737183 126737183 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:126737183A>G ENST00000393409.2 + 19 3707 c.3707A>G c.(3706-3708)tAc>tGc p.Y1236C PLXNA1_ENST00000251772.4_Missense_Mutation_p.Y1213C NM_032242.3 NP_115618.3 Q9UIW2 PLXA1_HUMAN plexin A1 1236 IPT/TIG 4. axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 67 GBM - Glioblastoma multiforme(114;0.155) CTGCAGGTGTACTCGGACAGC 0.637000 3 35 0 0 1 0 0 SASH3 54440 broad.mit.edu 37 X 128927038 128927038 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chrX:128927038T>C ENST00000356892.3 + 7 989 c.875T>C c.(874-876)cTc>cCc p.L292P NM_018990.3 NP_061863.1 O75995 SASH3_HUMAN SAM and SH3 domain containing 3 292 SAM. breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 12 GAAACACACCTCAATGAGCTG 0.582000 45 30 0 0 1 0 0 OSMR 9180 broad.mit.edu 37 5 38904532 38904532 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:38904532A>G ENST00000274276.3 + 9 1614 c.1212A>G c.(1210-1212)gtA>gtG p.V404V NM_003999.2 NP_003990.1 Q99650 OSMR_HUMAN oncostatin M receptor 404 Fibronectin type-III 1. cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 46 all_lung(31;0.000365) TGGCGCGAGTACGGTGTGCTG 0.478000 25 77 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144944255 144944255 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:144944255T>C ENST00000525985.1 - 2 3238 c.3167A>G c.(3166-3168)cAc>cGc p.H1056R P58107 EPIPL_HUMAN epiplakin 1 1056 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GGGGAGGTGGTGGTGGCTGGT 0.612000 3 38 0 0 1 0 0 PCDHB14 56122 broad.mit.edu 37 5 140604639 140604639 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:140604639A>G ENST00000239449.4 + 1 1562 c.1562A>G c.(1561-1563)tAc>tGc p.Y521C PCDHB14_ENST00000515856.2_Missense_Mutation_p.Y368C NM_018934.2 NP_061757.1 Q9Y5E9 PCDBE_HUMAN 521 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCGCTGGACTACGAGGCCCTA 0.687000 68 208 0 0 1 0 0 KRTAP9-4 85280 broad.mit.edu 37 17 39406206 39406206 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:39406206A>G ENST00000334109.2 + 1 268 c.234A>G c.(232-234)acA>acG p.T78T NM_033191.2 NP_149461.2 Q9BYQ2 KRA94_HUMAN keratin associated protein 9-4 78 15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF]. keratin filament breast(1)|large_intestine(1)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 18 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000397) GCTGCAGCACACCCTGCTGCC 0.617000 9 201 0 0 1 0 0 BAG4 9530 broad.mit.edu 37 8 38066679 38066679 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:38066679C>T ENST00000287322.4 + 4 1053 c.782C>T c.(781-783)gCg>gTg p.A261V BAG4_ENST00000432471.2_Missense_Mutation_p.A225V NM_004874.3 NP_004865.1 O95429 BAG4_HUMAN BCL2-associated athanogene 4 261 anti-apoptosis|apoptosis|protein folding cytoplasm|nucleus receptor signaling protein activity breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|urinary_tract(1) 11 Colorectal(12;0.000442) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121) CCTTCATCAGCGCCCTCAGCA 0.572000 24 75 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62291660 62291660 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:62291660A>G ENST00000378024.4 - 5 10503 c.10229T>C c.(10228-10230)aTt>aCt p.I3410T AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 3410 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) GGGAGATGAAATACTCAGGAA 0.393000 35 68 0 0 1 0 0 TLR4 7099 broad.mit.edu 37 9 120476615 120476615 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:120476615G>A ENST00000355622.6 + 3 2310 c.2209G>A c.(2209-2211)Gtg>Atg p.V737M TLR4_ENST00000394487.4_Missense_Mutation_p.V697M|TLR4_ENST00000472304.1_3'UTR NM_138554.4|NM_138557.2 NP_612564.1|NP_612567.1 O00206 TLR4_HUMAN toll-like receptor 4 737 TIR. activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 103 GATTGTTGTGGTGTCCCAGCA 0.478000 16 65 0 0 1 0 0 PIWIL1 9271 broad.mit.edu 37 12 130827178 130827178 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:130827178C>T ENST00000245255.3 + 2 314 c.42C>T c.(40-42)cgC>cgT p.R14R NM_001190971.1|NM_004764.4 NP_001177900.1|NP_004755.2 Q96J94 PIWL1_HUMAN piwi-like RNA-mediated gene silencing 1 14 gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development chromatoid body|P granule mRNA binding|piRNA binding|protein binding breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 57 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05) GAAGGGCCCGCGGTCAGGAGA 0.527000 11 36 0 0 1 0 0 ZSCAN25 221785 broad.mit.edu 37 7 99217536 99217536 + Missense_Mutation SNP C C T rs145815306 byFrequency TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:99217536C>T ENST00000394152.2 + 4 634 c.307C>T c.(307-309)Cgg>Tgg p.R103W ZSCAN25_ENST00000262941.6_Missense_Mutation_p.R103W|ZSCAN25_ENST00000466948.1_3'UTR|ZSCAN25_ENST00000334715.3_Missense_Mutation_p.R103W NM_145115.2 NP_660090.2 zinc finger and SCAN domain containing 25 CGCCTGGATCCGGGAGCATGG 0.642000 21 54 0 0 1 0 0 SLC22A15 55356 broad.mit.edu 37 1 116579933 116579933 + Silent SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:116579933G>T ENST00000369503.4 + 8 1225 c.1095G>T c.(1093-1095)cgG>cgT p.R365R SLC22A15_ENST00000481127.1_3'UTR NM_018420.2 NP_060890.2 Q8IZD6 S22AF_HUMAN solute carrier family 22, member 15 365 ion transport integral to membrane transmembrane transporter activity endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1) 17 Lung SC(450;0.184) all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05) Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12) GGTTTGGTCGGAAGCGAACAT 0.343000 40 138 4.16155e-14 4.34957e-14 1 1 0 CHFR 55743 broad.mit.edu 37 12 133438054 133438054 + Splice_Site SNP T T A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:133438054T>A ENST00000266880.7 - 7 849 c.787_splice c.e7+1 p.G262_splice CHFR_ENST00000432561.2_Splice_Site_p.G262_splice|CHFR_ENST00000541837.2_5'UTR|CHFR_ENST00000315585.7_Splice_Site_p.G221_splice|CHFR_ENST00000450056.2_Splice_Site_p.G250_splice|CHFR_ENST00000443047.2_Splice_Site_p.G170_splice Q96EP1 CHFR_HUMAN checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase 262 cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination PML body nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;0.00552)|all_epithelial(31;0.226) OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05) GACACTAACCTCCTCTCATTT 0.577000 27 116 0 0 1 0 0 EMP1 2012 broad.mit.edu 37 12 13367596 13367596 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:13367596G>A ENST00000256951.5 + 5 644 c.445G>A c.(445-447)Gtt>Att p.V149I EMP1_ENST00000542289.1_Intron|EMP1_ENST00000537612.1_Intron|EMP1_ENST00000396301.3_Silent_p.A136A|EMP1_ENST00000544053.1_3'UTR|EMP1_ENST00000431267.2_Missense_Mutation_p.V82I NM_001423.2 NP_001414.1 P54849 EMP1_HUMAN epithelial membrane protein 1 149 cell growth|cell proliferation|epidermis development integral to membrane|membrane fraction Prostate(47;0.194) BRCA - Breast invasive adenocarcinoma(232;0.153) CATCATCGGCGTTCTCTATCT 0.532000 45 70 0 0 1 0 0 SLC7A2 6542 broad.mit.edu 37 8 17412171 17412171 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:17412171A>G ENST00000494857.1 + 8 1376 c.1158A>G c.(1156-1158)acA>acG p.T386T SLC7A2_ENST00000522656.1_Silent_p.T386T|SLC7A2_ENST00000398090.3_Intron|SLC7A2_ENST00000004531.10_Silent_p.T426T|SLC7A2_ENST00000470360.1_Intron NM_001008539.3 NP_001008539.3 P52569 CTR2_HUMAN solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 386 cellular amino acid metabolic process|ion transport cytoplasm|integral to plasma membrane|membrane fraction basic amino acid transmembrane transporter activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1) 25 Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216) L-Lysine(DB00123)|L-Ornithine(DB00129) AAACGAAGACACCAATAATTG 0.423000 35 247 0 0 1 0 0 IGF2BP2-AS1 646600 broad.mit.edu 37 3 185431246 185431246 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:185431246C>T ENST00000296270.1 + 1 167 c.31C>T c.(31-33)Ccc>Tcc p.P11S IGF2BP2_ENST00000346192.3_Intron|IGF2BP2_ENST00000457616.2_Intron|IGF2BP2_ENST00000382199.2_Intron|IGF2BP2_ENST00000421047.2_Intron all_cancers(143;1.5e-10)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(80;7.41e-21) CTGTCTAAGGCCCTTTCCAGA 0.478000 7 65 0 0 1 0 0 ZNF543 125919 broad.mit.edu 37 19 57839316 57839316 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:57839316T>C ENST00000321545.4 + 4 831 c.486T>C c.(484-486)ggT>ggC p.G162G NM_213598.3 NP_998763.2 Q08ER8 ZN543_HUMAN zinc finger protein 543 162 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 28 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) CAGATGATGGTGTATGTACAA 0.443000 5 101 0 0 1 0 0 PPP1R18 170954 broad.mit.edu 37 6 30653575 30653575 + Missense_Mutation SNP T T A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:30653575T>A ENST00000274853.3 - 1 2097 c.221A>T c.(220-222)gAg>gTg p.E74V PPP1R18_ENST00000488324.1_Intron|PPP1R18_ENST00000399199.3_Missense_Mutation_p.E74V NM_133471.3 NP_597728.1 Q6NYC8 PHTNS_HUMAN protein phosphatase 1, regulatory subunit 18 74 cytoplasm|cytoskeleton actin binding GACCGCAGACTCATCCGGGTC 0.657000 17 63 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41385310 41385310 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr21:41385310T>C ENST00000400454.1 - 33 6167 c.5690A>G c.(5689-5691)gAc>gGc p.D1897G NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 1897 HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966). cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) ATGTATGAGGTCACCTAGAAG 0.488000 6 42 0 0 1 0 0 HLA-A 3105 broad.mit.edu 37 6 29912358 29912358 + Missense_Mutation SNP T T C rs45584337 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:29912358T>C ENST00000396634.1 + 7 1318 c.977T>C c.(976-978)gTg>gCg p.V326A HLA-A_ENST00000376809.5_Missense_Mutation_p.V326A|HLA-A_ENST00000376802.2_Intron|HLA-A_ENST00000376806.5_Missense_Mutation_p.V326A P30443 1A01_HUMAN major histocompatibility complex, class I, A 326 antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 30 ACTGGAGCTGTGGTCGCTGCC 0.587000 Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of Multiple Myeloma(9;0.094) 24 124 0 0 1 0 0 PCDHA10 56139 broad.mit.edu 37 5 140236912 140236912 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:140236912C>T ENST00000307360.5 + 1 1279 c.1279C>T c.(1279-1281)Cgg>Tgg p.R427W PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.R427W|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron NM_018901.2|NM_031859.1 NP_061724.1|NP_114065.1 NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 79 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTGACCGCGCGGGACGGGGG 0.647000 85 235 0 0 1 0 0 OTOGL 283310 broad.mit.edu 37 12 80729848 80729848 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:80729848C>T ENST00000458043.2 + 38 4507 c.4501C>T c.(4501-4503)Cct>Tct p.P1501S OTOGL_ENST00000547103.1_Missense_Mutation_p.P1489S NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 CGTGGAAATGCCTGACTGTGG 0.433000 7 62 0 0 1 0 0 WFIKKN1 117166 broad.mit.edu 37 16 683135 683135 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:683135T>C ENST00000319070.2 + 2 1047 c.725T>C c.(724-726)gTc>gCc p.V242A NM_053284.2 NP_444514.1 Q96NZ8 WFKN1_HUMAN WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1 242 Ig-like C2-type. extracellular region metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity breast(1)|endometrium(1)|prostate(1)|upper_aerodigestive_tract(1) 4 Hepatocellular(780;0.00335) AACGTGGTGGTCACCAGCATC 0.667000 17 29 0 0 1 0 0 CYLD 1540 broad.mit.edu 37 16 50815236 50815236 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:50815236T>C ENST00000540145.1 + 10 2013 c.1598T>C c.(1597-1599)tTt>tCt p.F533S CYLD_ENST00000427738.3_Missense_Mutation_p.F533S|CYLD_ENST00000398568.2_Missense_Mutation_p.F530S|CYLD_ENST00000311559.9_Missense_Mutation_p.F533S|CYLD_ENST00000569418.1_Missense_Mutation_p.F530S|CYLD_ENST00000568704.2_Intron|CYLD_ENST00000566206.1_Missense_Mutation_p.F530S|CYLD_ENST00000564326.1_Missense_Mutation_p.F530S Q9NQC7 CYLD_HUMAN cylindromatosis (turban tumor syndrome) 533 CAP-Gly 3.|Interaction with IKBKG/NEMO.|Interaction with TRIP. cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1) 62 all_cancers(37;0.0156) AAGGCGCTGTTTGTGAAACTG 0.473000 """Mis, N, F, S""" cylindroma cylindroma Multiple Trichoepithelioma, Familial;Familial Cylindromatosis 22 44 0 0 1 0 0 DUSP27 92235 broad.mit.edu 37 1 167097313 167097313 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:167097313A>G ENST00000361200.2 + 6 3111 c.2945A>G c.(2944-2946)aAa>aGa p.K982R DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.K982R|DUSP27_ENST00000271385.5_Missense_Mutation_p.K982R Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) 982 Ser-rich. protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 AAGTTTTCCAAATCCCAGTCA 0.517000 9 108 0 0 1 0 0 RFPL3 10738 broad.mit.edu 37 22 32756465 32756465 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr22:32756465T>C ENST00000249007.4 + 2 805 c.600T>C c.(598-600)tcT>tcC p.S200S RFPL3S_ENST00000382084.4_3'UTR|RFPL3S_ENST00000400234.1_3'UTR|RFPL3_ENST00000382088.3_Silent_p.S171S|RFPL3_ENST00000397468.1_Silent_p.S171S NM_001098535.1 NP_001092005.1 O75679 RFPL3_HUMAN ret finger protein-like 3 200 B30.2/SPRY. zinc ion binding cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1) 15 GCAGAGAATCTGTTCACTGCA 0.577000 32 131 0 0 1 0 0 UGT3A1 133688 broad.mit.edu 37 5 35954387 35954387 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:35954387G>A ENST00000274278.3 - 7 1846 c.1489C>T c.(1489-1491)Ctg>Ttg p.L497L NM_152404.3 NP_689617.3 Q6NUS8 UD3A1_HUMAN UDP glycosyltransferase 3 family, polypeptide A1 497 integral to membrane glucuronosyltransferase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4) 46 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) ATAGTGCCCAGAGTGAGCCCC 0.587000 10 46 0 0 1 0 0 RNF123 63891 broad.mit.edu 37 3 49753038 49753038 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:49753038A>G ENST00000327697.6 + 32 3185 c.3041A>G c.(3040-3042)cAc>cGc p.H1014R RNF123_ENST00000433785.1_Missense_Mutation_p.H126R NM_022064.3 NP_071347.2 Q5XPI4 RN123_HUMAN ring finger protein 123 1014 cytoplasm ligase activity|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255) CTGCAGCAGCACATGGCGGAC 0.607000 16 37 0 0 1 0 0 EYA1 2138 broad.mit.edu 37 8 72211461 72211461 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:72211461G>A ENST00000340726.3 - 9 1286 c.647C>T c.(646-648)cCg>cTg p.P216L EYA1_ENST00000419131.1_Missense_Mutation_p.P211L|EYA1_ENST00000388741.2_Missense_Mutation_p.P182L|EYA1_ENST00000388740.3_Missense_Mutation_p.P183L|EYA1_ENST00000303824.7_Missense_Mutation_p.P210L|EYA1_ENST00000388742.4_Missense_Mutation_p.P216L|EYA1_ENST00000388743.2_Missense_Mutation_p.P215L NM_000503.4 NP_000494.2 Q99502 EYA1_HUMAN eyes absent homolog 1 (Drosophila) 216 double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 44 Breast(64;0.046) Epithelial(68;0.0837)|all cancers(69;0.247) GGGATAAGACGGATAGTCCTA 0.423000 17 104 0 0 1 0 0 TTYH2 94015 broad.mit.edu 37 17 72227104 72227104 + Missense_Mutation SNP A A C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:72227104A>C ENST00000269346.4 + 3 454 c.380A>C c.(379-381)gAt>gCt p.D127A TTYH2_ENST00000529107.1_Missense_Mutation_p.D106A NM_032646.5 NP_116035.5 Q9BSA4 TTYH2_HUMAN tweety family member 2 127 chloride channel complex|plasma membrane chloride channel activity|protein binding breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1) 36 TCCTTGGACGATGCCAACCAC 0.577000 22 80 0 0 1 0 0 PLEKHB1 58473 broad.mit.edu 37 11 73366910 73366910 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:73366910G>A ENST00000354190.5 + 6 884 c.453G>A c.(451-453)gtG>gtA p.V151V PLEKHB1_ENST00000398492.4_Intron|PLEKHB1_ENST00000535129.1_Intron|PLEKHB1_ENST00000227214.6_Intron|PLEKHB1_ENST00000543085.1_Intron|PLEKHB1_ENST00000398494.4_Silent_p.V132V NM_021200.2 NP_067023.1 Q9UF11 PKHB1_HUMAN pleckstrin homology domain containing, family B (evectins) member 1 151 multicellular organismal development|phototransduction cytoplasm|integral to membrane signal transducer activity endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1) 7 TCAGGTGTGTGACCCGCTCGT 0.642000 21 68 0 0 1 0 0 KLHL21 9903 broad.mit.edu 37 1 6659379 6659379 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:6659379G>A ENST00000377663.3 - 2 1338 c.1155C>T c.(1153-1155)taC>taT p.Y385Y KLHL21_ENST00000467612.1_Silent_p.Y18Y|KLHL21_ENST00000463043.1_Silent_p.Y18Y|KLHL21_ENST00000377658.4_Silent_p.Y385Y Q9UJP4 KLH21_HUMAN kelch-like family member 21 385 anaphase|cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex|cytoplasm|polar microtubule central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|prostate(2) 8 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156) Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.4e-05)|Kidney(185;4.95e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000528)|KIRC - Kidney renal clear cell carcinoma(229;0.000927)|STAD - Stomach adenocarcinoma(132;0.0172)|READ - Rectum adenocarcinoma(331;0.0644) CGGCCACCACGTACAGCAGTC 0.632000 16 66 0 0 1 0 0 CXXC1 30827 broad.mit.edu 37 18 47810748 47810748 + Splice_Site SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr18:47810748T>C ENST00000285106.6 - 9 1919 c.1205_splice c.e9+1 p.N402_splice CXXC1_ENST00000412036.2_Splice_Site_p.N406_splice|CXXC1_ENST00000589940.1_Splice_Site_p.N402_splice NM_001101654.1|NM_014593.3 NP_001095124.1|NP_055408.2 Q9P0U4 CXXC1_HUMAN CXXC finger protein 1 402 histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck|Set1C/COMPASS complex protein binding|unmethylated CpG binding|zinc ion binding autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 24 AATGACTCACTTGGCTGCCAG 0.592000 29 98 0 0 1 0 0 SBK2 646643 broad.mit.edu 37 19 56042676 56042676 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:56042676C>T ENST00000413299.1 - 3 327 c.290G>A c.(289-291)cGc>cAc p.R97H SBK2_ENST00000344158.3_Missense_Mutation_p.R97H NM_001101401.2 NP_001094871.2 P0C263 SBK2_HUMAN SH3 domain binding kinase family, member 2 97 Protein kinase. ATP binding|protein serine/threonine kinase activity endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 9 GAGGGACGTGCGGGGTTTCGG 0.672000 8 27 0 0 1 0 0 SI 6476 broad.mit.edu 37 3 164697201 164697201 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:164697201C>T ENST00000264382.3 - 48 5495 c.5433G>A c.(5431-5433)ctG>ctA p.L1811L NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 1811 Sucrase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TGTGTGTGGTCAGATCAATAC 0.284000 HNSCC(35;0.089) 8 71 0 0 1 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102445732 102445732 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:102445732A>G ENST00000360184.4 + 3 585 c.421A>G c.(421-423)Agt>Ggt p.S141G NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 141 Stem (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 CCTTACACTCAGTGAAGACTC 0.423000 7 141 0 0 1 0 0 METTL22 79091 broad.mit.edu 37 16 8722955 8722955 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:8722955A>G ENST00000381920.3 + 3 760 c.502A>G c.(502-504)Atc>Gtc p.I168V METTL22_ENST00000561758.1_Missense_Mutation_p.I112V NM_024109.2 NP_077014.2 Q9BUU2 MET22_HUMAN methyltransferase like 22 168 methyltransferase activity large_intestine(5)|lung(4) 9 CCCGCACGATATCATCAGAAT 0.542000 119 363 0 0 1 0 0 TCEA3 6920 broad.mit.edu 37 1 23751109 23751109 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:23751109C>T ENST00000450454.2 - 1 124 c.18G>A c.(16-18)gaG>gaA p.E6E TCEA3_ENST00000374601.3_Silent_p.E6E NM_003196.1 NP_003187.1 O75764 TCEA3_HUMAN transcription elongation factor A (SII), 3 6 TFIIS N-terminal. regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent nucleus DNA binding|translation elongation factor activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1) 7 Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198) TCCTCAGCAGCTCCTCTTCCT 0.721000 22 91 0 0 1 0 0 KRT6A 3853 broad.mit.edu 37 12 52881710 52881710 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:52881710A>G ENST00000330722.6 - 9 1557 c.1489T>C c.(1489-1491)Tat>Cat p.Y497H NM_005554.3 NP_005545.1 P02538 K2C6A_HUMAN keratin 6A 497 Tail. cell differentiation|ectoderm development|positive regulation of cell proliferation keratin filament protein binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 39 BRCA - Breast invasive adenocarcinoma(357;0.189) GCACCGCCATAGCCACTGGAG 0.602000 17 51 0 0 1 0 0 VPS52 6293 broad.mit.edu 37 6 33235683 33235683 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:33235683A>G ENST00000445902.2 - 9 1110 c.892T>C c.(892-894)Tct>Cct p.S298P VPS52_ENST00000436044.2_Missense_Mutation_p.S173P|VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000478934.1_5'UTR NM_022553.4 NP_072047.4 Q8N1B4 VPS52_HUMAN vacuolar protein sorting 52 homolog (S. cerevisiae) 298 protein transport endosome membrane|Golgi apparatus endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1) 28 CGGTAGTAAGACAGGTAAATC 0.532000 42 136 0 0 1 0 0 C10orf12 26148 broad.mit.edu 37 10 98742051 98742051 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:98742051A>G ENST00000286067.2 + 1 1011 c.904A>G c.(904-906)Aca>Gca p.T302A NM_015652.2 NP_056467.2 Q8N655 CJ012_HUMAN chromosome 10 open reading frame 12 302 NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4) 45 Colorectal(252;0.172) Epithelial(162;6.35e-09)|all cancers(201;3.21e-07) AGAGGAAACGACAGCCTCCAG 0.572000 7 94 0 0 1 0 0 SIRT7 51547 broad.mit.edu 37 17 79875959 79875959 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:79875959C>T ENST00000328666.6 - 1 111 c.49G>A c.(49-51)Gtc>Atc p.V17I NM_016538.2 NP_057622.1 Q9NRC8 SIRT7_HUMAN sirtuin 7 17 Arg-rich. chromatin silencing|positive regulation of transcription on exit from mitosis|protein deacetylation|rRNA transcription cytoplasm|nucleolus organizer region hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ binding|protein binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 13 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) AACCTCCGGACCCGCTCCGCC 0.776000 14 33 0 0 1 0 0 NAPSA 9476 broad.mit.edu 37 19 50861878 50861878 + Missense_Mutation SNP C C G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:50861878C>G ENST00000253719.2 - 9 1403 c.1195G>C c.(1195-1197)Gcg>Ccg p.A399P NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron NM_004851.1 NP_004842.1 O96009 NAPSA_HUMAN napsin A aspartic peptidase 399 proteolysis extracellular region aspartic-type endopeptidase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3) 12 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183) CGAGCGCGCGCCAGGCCCACC 0.697000 9 20 0 0 1 0 0 ZNF562 54811 broad.mit.edu 37 19 9767279 9767279 + Translation_Start_Site SNP G G A rs151017672 byFrequency TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:9767279G>A ENST00000537617.1 - 0 360 ZNF562_ENST00000590155.1_Missense_Mutation_p.R98W|ZNF562_ENST00000453792.2_Missense_Mutation_p.R29W|ZNF562_ENST00000293648.4_Missense_Mutation_p.R26W|ZNF562_ENST00000587392.1_Intron|ZNF562_ENST00000453372.2_Missense_Mutation_p.R98W|ZNF562_ENST00000448622.1_Missense_Mutation_p.R98W|ZNF562_ENST00000541032.1_Missense_Mutation_p.R61W Q6V9R5 ZN562_HUMAN zinc finger protein 562 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 17 AGTGATGACCGTTTGGTTCTA 0.323000 32 110 0 0 1 0 0 ZDHHC5 25921 broad.mit.edu 37 11 57464277 57464277 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:57464277T>C ENST00000287169.3 + 10 2416 c.1054T>C c.(1054-1056)Tac>Cac p.Y352H ZDHHC5_ENST00000527985.1_Missense_Mutation_p.Y299H NM_015457.2 NP_056272.2 Q9C0B5 ZDHC5_HUMAN zinc finger, DHHC-type containing 5 352 integral to membrane acyltransferase activity|zinc ion binding endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1) 18 ACCTACCATGTACAAGTATCG 0.502000 13 75 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 33878260 33878260 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:33878260G>A ENST00000389232.4 + 16 1801 c.1731G>A c.(1729-1731)gcG>gcA p.A577A RYR3_ENST00000415757.3_Silent_p.A577A NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 577 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) ATCTGATAGCGGAGGGCCACA 0.448000 25 61 0 0 1 0 0 CPSF3L 54973 broad.mit.edu 37 1 1247409 1247411 + In_Frame_Del DEL AGG AGG - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:1247409_1247411delAGG ENST00000540437.1 - 18 2197_2199 c.1742_1744delCCT c.(1741-1746)tgg>t p.SW581del CPSF3L_ENST00000419704.1_In_Frame_Del_p.SW474del|CPSF3L_ENST00000435064.1_In_Frame_Del_p.SW575del|CPSF3L_ENST00000462432.1_5'UTR|CPSF3L_ENST00000421495.2_In_Frame_Del_p.SW317del|CPSF3L_ENST00000545578.1_In_Frame_Del_p.SW546del|CPSF3L_ENST00000450926.2_In_Frame_Del_p.SW553del|CPSF3L_ENST00000411962.1_In_Frame_Del_p.SW477del NM_001256456.1 NP_001243385.1 Q5TA45 INT11_HUMAN cleavage and polyadenylation specific factor 3-like 575 Golgi apparatus|nucleus hydrolase activity endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3) 13 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201) TGGTAGGTCCAGGAGACCAGCAG 0.631 3 5 --- --- --- --- MXRA8 54587 broad.mit.edu 37 1 1290110 1290110 + Frame_Shift_Del DEL G G - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:1290110delG ENST00000309212.6 - 5 931 c.901delC c.(901-903)ggfs p.R301fs MXRA8_ENST00000445648.2_Frame_Shift_Del_p.R301fs|MXRA8_ENST00000342753.4_Frame_Shift_Del_p.R200fs NM_032348.2 NP_115724.1 Q9BRK3 MXRA8_HUMAN matrix-remodelling associated 8 301 integral to membrane central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3) 7 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) GGAGAGCCCCGGGGGGGCGGC 0.741 8 19 --- --- --- --- RPL22 6146 broad.mit.edu 37 1 6257785 6257785 + Frame_Shift_Del DEL T T - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:6257785delT ENST00000234875.4 - 2 82 c.44delA c.(43-45)agfs p.K16fs RPL22_ENST00000484532.1_5'UTR|RPL22_ENST00000497965.1_5'UTR NM_000983.3 NP_000974.1 P35268 RL22_HUMAN ribosomal protein L22 16 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit heparin binding|RNA binding|structural constituent of ribosome p.K15fs*5(1) kidney(1)|large_intestine(2)|lung(2)|skin(1) 6 Ovarian(185;0.0634) all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211) Epithelial(90;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182) AACTTGCTTCTTTTTTTTGCC 0.398 T RUNX1 """AML, CML""" 7 38 --- --- --- --- TNFRSF9 3604 broad.mit.edu 37 1 7998254 7998254 + Splice_Site DEL T T - rs9657965 byFrequency TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:7998254delT ENST00000377507.3 - 4 511 c.346_splice c.e4+1 p.K115_splice NM_001561.5 NP_001552.2 Q07011 TNR9_HUMAN tumor necrosis factor receptor superfamily, member 9 115 K -> N (in dbSNP:rs9657965). induction of apoptosis|negative regulation of cell proliferation integral to plasma membrane binding|receptor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 19 Ovarian(185;0.0634)|all_lung(157;0.151) all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649) CAAACGTACCTTTTTTTGTCA 0.413 31 125 --- --- --- --- SLC25A33 84275 broad.mit.edu 37 1 9627374 9627374 + Frame_Shift_Del DEL T T - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:9627374delT ENST00000302692.6 + 3 479 c.269delT c.(268-270)ctfs p.L90fs NM_032315.2 NP_115691.1 Q9BSK2 S2533_HUMAN solute carrier family 25 (pyrimidine nucleotide carrier), member 33 90 transport integral to membrane|mitochondrial inner membrane endometrium(2)|kidney(1)|lung(4)|prostate(1)|skin(1) 9 all_lung(157;0.246) all_epithelial(116;1.16e-18)|all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Breast(348;0.00191)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.44e-05)|Kidney(185;0.000262)|KIRC - Kidney renal clear cell carcinoma(229;0.000957)|BRCA - Breast invasive adenocarcinoma(304;0.0019)|STAD - Stomach adenocarcinoma(132;0.00355)|READ - Rectum adenocarcinoma(331;0.0419) CCAAAGTCACTTTTTAGAGGC 0.413 69 204 --- --- --- --- PIK3CD 5293 broad.mit.edu 37 1 9777114 9777114 + Frame_Shift_Del DEL C C - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:9777114delC ENST00000377346.4 + 7 1073 c.878delC c.(877-879)gcfs p.A293fs PIK3CD_ENST00000536656.1_Intron|PIK3CD_ENST00000361110.2_Intron NM_005026.3 NP_005017.3 O00329 PK3CD_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta 293 phosphatidylinositol-mediated signaling|protein phosphorylation phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 31 all_lung(157;0.222) all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419) AGCAACCCTGCCCCCCAGGTC 0.617 29 145 --- --- --- --- EPHA2 1969 broad.mit.edu 37 1 16462199 16462199 + Frame_Shift_Del DEL G G - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:16462199delG ENST00000358432.5 - 6 1533 c.1379delC c.(1378-1380)cgfs p.P461fs NM_004431.3 NP_004422.2 P29317 EPHA2_HUMAN EPH receptor A2 461 Fibronectin type-III 2. activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane ATP binding|ephrin receptor activity|protein binding p.P460fs*33(1) NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649) Dasatinib(DB01254) CTGCTGCGGCGGGGGGATGCT 0.667 32 82 --- --- --- --- MST1L 11223 broad.mit.edu 37 1 17084500 17084501 + RNA INS - - C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:17084500_17084501insC ENST00000455405.2 - 0 388_389 GGCTACTGGGACCCGCTGTAGG 0.599 7 178 --- --- --- --- ARHGEF10L 55160 broad.mit.edu 37 1 17966735 17966735 + Frame_Shift_Del DEL C C - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:17966735delC ENST00000361221.3 + 21 2369 c.2210delC c.(2209-2211)acfs p.T737fs ARHGEF10L_ENST00000452522.1_Frame_Shift_Del_p.T698fs|ARHGEF10L_ENST00000167825.4_Frame_Shift_Del_p.T440fs|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000434513.1_Frame_Shift_Del_p.T732fs|ARHGEF10L_ENST00000375415.1_Frame_Shift_Del_p.T698fs|ARHGEF10L_ENST00000375408.3_Frame_Shift_Del_p.T510fs NM_018125.3 NP_060595.3 Q9HCE6 ARGAL_HUMAN Rho guanine nucleotide exchange factor (GEF) 10-like 737 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 43 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;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204) GTTTTCATCACCCCCAACCCC 0.582 8 21 --- --- --- --- IFNLR1 163702 broad.mit.edu 37 1 24484361 24484362 + Frame_Shift_Del DEL GT GT - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:24484361_24484362delGT ENST00000327535.1 - 7 833_834 c.821_822delAC c.(820-822)cfs p.H274fs IFNLR1_ENST00000374421.3_Intron|IFNLR1_ENST00000327575.2_Frame_Shift_Del_p.TP230fs NM_170743.3|NM_173064.2 NP_734464.1|NP_775087.1 interferon, lambda receptor 1 TTGCCACAGGGTGTGTGTGTCC 0.495 33 133 --- --- --- --- RHD 6007 broad.mit.edu 37 1 25599124 25599125 + Frame_Shift_Ins INS - - T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:25599124_25599125insT ENST00000328664.4 + 1 241_242 c.86_87insT c.(85-87)tttfs p.F29fs RHD_ENST00000454452.2_Frame_Shift_Ins_p.F29fs|RHD_ENST00000423810.2_Frame_Shift_Ins_p.F29fs|RHD_ENST00000417538.2_Frame_Shift_Ins_p.F29fs|RHD_ENST00000342055.5_Frame_Shift_Ins_p.F29fs|RHD_ENST00000357542.4_Frame_Shift_Ins_p.F29fs|RHD_ENST00000423253.1_3'UTR|RHD_ENST00000568195.1_Frame_Shift_Ins_p.F29fs NM_016124.3 NP_057208.2 Q02161 RHD_HUMAN Rh blood group, D antigen 29 integral to plasma membrane breast(2)|large_intestine(4)|lung(7)|prostate(1) 14 Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) CTCCTCTTCTATTTTTTTACCC 0.520 11 221 --- --- --- --- RHCE 6006 broad.mit.edu 37 1 25747184 25747185 + Frame_Shift_Ins INS - - A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:25747184_25747185insA ENST00000294413.7 - 1 151_152 c.93_94insT c.(91-96)ttcccafs p.FP31fs RHCE_ENST00000346452.4_Frame_Shift_Ins_p.FP31fs|RHCE_ENST00000349438.4_Frame_Shift_Ins_p.FP31fs|RHCE_ENST00000455194.1_Frame_Shift_Ins_p.FP31fs|RHCE_ENST00000413854.1_Frame_Shift_Ins_p.FP31fs|RHCE_ENST00000349320.3_Intron|RHCE_ENST00000495048.1_5'UTR|RHCE_ENST00000340849.4_Frame_Shift_Ins_p.FP31fs|RHCE_ENST00000243186.6_Frame_Shift_Ins_p.FP31fs|RHCE_ENST00000425135.1_Frame_Shift_Ins_p.FP31fs NM_020485.4 NP_065231.3 P18577 RHCE_HUMAN Rh blood group, CcEe antigens 31 integral to plasma membrane endometrium(8)|large_intestine(6)|lung(3) 17 Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649) TCATAGTGGGTAAAAAAATAGA 0.535 28 98 --- --- --- --- SLC9A1 6548 broad.mit.edu 37 1 27426906 27426906 + Frame_Shift_Del DEL G G - rs147891871 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:27426906delG ENST00000263980.3 - 12 2915 c.2340delC c.(2338-2340)ccfs p.P780fs SLC9A1_ENST00000545949.1_Frame_Shift_Del_p.P441fs NM_003047.4 NP_003038.2 P19634 SL9A1_HUMAN solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1 780 regulation of pH integral to membrane sodium:hydrogen antiporter activity central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 27 UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046) Amiloride(DB00594) CACTGGGCGCGGGGGTGAAGA 0.637 31 131 --- --- --- --- TMEM39B 55116 broad.mit.edu 37 1 32568241 32568241 + Frame_Shift_Del DEL C C - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:32568241delC ENST00000336294.5 + 9 1592 c.1446delC c.(1444-1446)agfs p.S482fs TMEM39B_ENST00000373634.4_Frame_Shift_Del_p.S283fs|TMEM39B_ENST00000487305.1_3'UTR NM_018056.2 NP_060526.2 Q9GZU3 TM39B_HUMAN transmembrane protein 39B 482 integral to membrane endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2) 11 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) ACTCTGCTAGCCCCCAGAGAG 0.607 22 88 --- --- --- --- KIAA1522 57648 broad.mit.edu 37 1 33233495 33233495 + Frame_Shift_Del DEL C C - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:33233495delC ENST00000401073.2 + 2 413 c.343delC c.(343-345)ccfs p.P116fs KIAA1522_ENST00000373481.3_Frame_Shift_Del_p.P68fs|KIAA1522_ENST00000294521.3_Frame_Shift_Del_p.P57fs|KIAA1522_ENST00000373480.1_Frame_Shift_Del_p.P57fs NM_020888.2 NP_065939.2 Q9P206 K1522_HUMAN KIAA1522 57 breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) CAGTGGGCGACCCCCCCACCT 0.612 74 82 --- --- --- --- DLGAP3 58512 broad.mit.edu 37 1 35370731 35370732 + Frame_Shift_Del DEL CC CC - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:35370731_35370732delCC ENST00000373347.1 - 3 521_522 c.253_254delGG c.(253-255)tfs p.G85fs DLGAP3_ENST00000235180.4_Frame_Shift_Del_p.G85fs O95886 DLGP3_HUMAN discs, large (Drosophila) homolog-associated protein 3 85 cell-cell signaling cell junction|postsynaptic density|postsynaptic membrane central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1) 46 Myeloproliferative disorder(586;0.0393) GGTGCTGCTACCCCCCCCAACC 0.698 3 6 --- --- --- --- ZFP69 339559 broad.mit.edu 37 1 40954809 40954809 + Frame_Shift_Del DEL G G - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:40954809delG ENST00000372706.1 + 4 1275 c.269delG c.(268-270)tgfs p.W90fs ZFP69_ENST00000372705.3_Frame_Shift_Del_p.W90fs ZFP69 zinc finger protein CAGGAAGAGTGGGGGCAGCTG 0.458 27 83 --- --- --- --- PTCH2 8643 broad.mit.edu 37 1 45288255 45288257 + In_Frame_Del DEL GGA GGA - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:45288255_45288257delGGA ENST00000372192.3 - 22 3572_3574 c.3442_3444delTCC c.(3442-3444)del p.S1148del PTCH2_ENST00000447098.2_Intron NM_003738.4 NP_003729.3 Q9Y6C5 PTC2_HUMAN patched 2 1148 protein complex assembly|spermatogenesis integral to plasma membrane hedgehog receptor activity NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 50 Acute lymphoblastic leukemia(166;0.155) TCTGGGGCAGGGAGGAGGATGCC 0.626 Basal Cell Nevus syndrome 38 130 --- --- --- --- CYP4Z2P 163720 broad.mit.edu 37 1 47339125 47339125 + RNA DEL C C - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:47339125delC ENST00000505841.1 - 0 775 NR_002788.2 CCCCCTGGCACCCCCCCCATG 0.443 4 9 --- --- --- --- FGGY 55277 broad.mit.edu 37 1 59812017 59812017 + Frame_Shift_Del DEL G G - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:59812017delG ENST00000371218.4 + 4 596 c.412delG c.(412-414)ggfs p.G139fs FGGY_ENST00000371212.1_Intron|FGGY_ENST00000474476.1_3'UTR|FGGY_ENST00000303721.7_Frame_Shift_Del_p.G139fs NM_001113411.1 NP_001106882.1 Q96C11 FGGY_HUMAN FGGY carbohydrate kinase domain containing 139 carbohydrate metabolic process|cell death|neuron homeostasis kinase activity|phosphotransferase activity, alcohol group as acceptor endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 22 all_cancers(7;7.36e-05) CCAGTACGTCGGGGGGGTGAT 0.502 14 68 --- --- --- --- INADL 10207 broad.mit.edu 37 1 62267407 62267407 + Frame_Shift_Del DEL A A - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:62267407delA ENST00000371158.2 + 12 1629 c.1515delA c.(1513-1515)ttfs p.L505fs INADL_ENST00000316485.6_Frame_Shift_Del_p.L505fs NM_176877.2 NP_795352.2 Q8NI35 INADL_HUMAN InaD-like (Drosophila) 505 intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3) 103 TTGATACTTTAAAAAATGACA 0.353 23 88 --- --- --- --- MIER1 57708 broad.mit.edu 37 1 67452114 67452114 + Frame_Shift_Del DEL T T - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:67452114delT ENST00000371018.3 + 16 1687 c.1371delT c.(1369-1371)cafs p.H457fs MIER1_ENST00000355356.3_3'UTR|MIER1_ENST00000371016.1_Frame_Shift_Del_p.H437fs|MIER1_ENST00000401042.3_Frame_Shift_Del_p.H420fs|MIER1_ENST00000371014.1_Frame_Shift_Del_p.H473fs|MIER1_ENST00000357692.2_3'UTR|MIER1_ENST00000355977.6_Frame_Shift_Del_p.H357fs NM_001077702.2|NM_001146111.1|NM_001146112.1|NM_020948.3 NP_001071170.2|NP_001139583.1|NP_001139584.1|NP_065999.2 Q8N108 MIER1_HUMAN mesoderm induction early response 1, transcriptional regulator 0 positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3) 15 TTCCAGTTCATTTTTCAGCCA 0.328 28 89 --- --- --- --- ASB17 127247 broad.mit.edu 37 1 76387916 76387916 + Frame_Shift_Del DEL T T - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:76387916delT ENST00000284142.6 - 2 669 c.530delA c.(529-531)acfs p.N177fs NM_080868.2 NP_543144.1 Q8WXJ9 ASB17_HUMAN ankyrin repeat and SOCS box containing 17 177 intracellular signal transduction p.N177fs*21(1) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1) 21 GTTGATAGGGTTTTTTTCTCT 0.368 16 27 --- --- --- --- IFI44L 10964 broad.mit.edu 37 1 79095512 79095513 + Frame_Shift_Ins INS - - T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:79095512_79095513insT ENST00000370751.4 + 4 814_815 c.635_636insT c.(634-636)attfs p.I212fs IFI44L_ENST00000476521.1_3'UTR|IFI44L_ENST00000342282.3_5'UTR NM_006820.2 NP_006811.2 Q53G44 IF44L_HUMAN interferon-induced protein 44-like 212 cytoplasm endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 22 GGAAAGTCCAGTTTTTTCAATT 0.450 16 64 --- --- --- --- RPAP2 79871 broad.mit.edu 37 1 92846371 92846371 + Frame_Shift_Del DEL A A - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:92846371delA ENST00000370343.3 + 12 1888 c.1779delA c.(1777-1779)ctfs p.L593fs NM_024813.2 NP_079089.2 Q8IXW5 RPAP2_HUMAN RNA polymerase II associated protein 2 593 integral to membrane|nucleus metal ion binding|phosphoprotein phosphatase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 22 all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222) all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115) AATTACATCTAAAAAATGAAG 0.363 27 89 --- --- --- --- RP11-435B5.5 0 broad.mit.edu 37 1 143391935 143391936 + RNA INS - - TG TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:143391935_143391936insTG ENST00000428624.1 + 0 2065 RP11-435B5.4_ENST00000423249.1_lincRNA ATATATATATATAAAGAGATTG 0.252 5 6 --- --- --- --- CREB3L4 148327 broad.mit.edu 37 1 153941609 153941609 + Frame_Shift_Del DEL G G - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:153941609delG ENST00000368607.3 + 3 644 c.378delG c.(376-378)cafs p.Q126fs CREB3L4_ENST00000405694.3_Intron|CREB3L4_ENST00000368601.1_Frame_Shift_Del_p.Q126fs|CREB3L4_ENST00000368600.3_Frame_Shift_Del_p.Q106fs|CREB3L4_ENST00000368603.1_Frame_Shift_Del_p.Q126fs|CREB3L4_ENST00000271889.4_Frame_Shift_Del_p.Q126fs NM_001255978.1|NM_001255980.1|NM_130898.3 NP_001242907.1|NP_001242909.1|NP_570968.1 Q8TEY5 CR3L4_HUMAN cAMP responsive element binding protein 3-like 4 126 response to unfolded protein endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3) 13 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) AGAGGATGCAGGGGGAAACTG 0.587 44 176 --- --- --- --- KIAA0907 22889 broad.mit.edu 37 1 155884009 155884009 + Frame_Shift_Del DEL T T - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:155884009delT ENST00000368321.3 - 14 1771 c.1748delA c.(1747-1749)atfs p.N583fs KIAA0907_ENST00000368320.3_3'UTR NM_014949.2 NP_055764.2 Q7Z7F0 K0907_HUMAN KIAA0907 583 breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1) 21 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;8.82e-06) ACTACTTGCATTTTTATGACC 0.448 27 99 --- --- --- --- PRCC 5546 broad.mit.edu 37 1 156761536 156761536 + Frame_Shift_Del DEL C C - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:156761536delC ENST00000271526.4 + 4 1403 c.1131delC c.(1129-1131)gtfs p.V377fs PRCC_ENST00000491853.1_3'UTR|PRCC_ENST00000353233.3_Intron NM_005973.4 NP_005964.3 Q92733 PRCC_HUMAN papillary renal cell carcinoma (translocation-associated) 377 cell cycle|mitotic cell cycle checkpoint nucleus protein binding p.Q380fs*12(1) PRCC/TFE3(25) breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1) 15 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CGGCCCTGGTCCCCCCCCAGG 0.527 T TFE3 papillary renal 26 105 --- --- --- --- CADM3 57863 broad.mit.edu 37 1 159166185 159166186 + Frame_Shift_Ins INS - - C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:159166185_159166186insC ENST00000368125.4 + 6 880_881 c.723_724insC c.(721-726)cccccafs p.PP241fs CADM3_ENST00000368124.4_Frame_Shift_Ins_p.PP275fs|CTA-134P22.2_ENST00000415675.2_RNA NM_001127173.1 NP_001120645.1 Q8N126 CADM3_HUMAN cell adhesion molecule 3 241 Ig-like C2-type 2. adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane protein homodimerization activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 all_hematologic(112;0.0429) GGCCAGACCCTCCCCATCCTCG 0.520 OREG0013913 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 49 --- --- --- --- CCDC181 57821 broad.mit.edu 37 1 169366580 169366580 + Frame_Shift_Del DEL T T - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:169366580delT ENST00000545005.1 - 6 1769 c.1262delA c.(1261-1263)agfs p.K421fs CCDC181_ENST00000367805.3_Frame_Shift_Del_p.K421fs|CCDC181_ENST00000367806.3_Frame_Shift_Del_p.K422fs coiled-coil domain containing 181 CTCTTCGTGCTTTTTTTTAAG 0.363 8 35 --- --- --- --- CAMSAP2 23271 broad.mit.edu 37 1 200827020 200827020 + Frame_Shift_Del DEL A A - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:200827020delA ENST00000358823.2 + 17 4540 c.4270delA c.(4270-4272)aafs p.K1425fs CAMSAP2_ENST00000413307.2_Frame_Shift_Del_p.K1409fs|CAMSAP2_ENST00000236925.4_Frame_Shift_Del_p.K1436fs NM_203459.1 NP_982284.1 Q08AD1 CAMP2_HUMAN calmodulin regulated spectrin-associated protein family, member 2 1436 CKK. cytoplasm|microtubule protein binding ATCTATCACTAAAAAAATGAT 0.373 27 95 --- --- --- --- CENPF 1063 broad.mit.edu 37 1 214830564 214830564 + Frame_Shift_Del DEL A A - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:214830564delA ENST00000366955.3 + 18 8942 c.8774delA c.(8773-8775)cafs p.Q2925fs NM_016343.3 NP_057427.3 P49454 CENPF_HUMAN centromere protein F, 350/400kDa 3021 Sufficient for centromere localization.|Sufficient for self-association. cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1) 126 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) TCATCTGGCCAAAATAAAGCT 0.453 33 109 --- --- --- --- TP53BP2 7159 broad.mit.edu 37 1 224001956 224001956 + Frame_Shift_Del DEL G G - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:224001956delG ENST00000343537.7 - 3 566 c.275delC c.(274-276)ctfs p.P92fs TP53BP2_ENST00000391878.2_5'UTR NM_001031685.2 NP_001026855.2 Q13625 ASPP2_HUMAN tumor protein p53 binding protein, 2 86 apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction nucleus|perinuclear region of cytoplasm NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2) 29 GBM - Glioblastoma multiforme(131;0.0958) GTCCCTGCCAGGGGGGCGTTC 0.473 27 92 --- --- --- --- CCSAP 126731 broad.mit.edu 37 1 229478194 229478194 + Frame_Shift_Del DEL C C - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:229478194delC ENST00000284617.2 - 2 143 c.19delG c.(19-21)tgfs p.V7fs CCSAP_ENST00000452552.1_Frame_Shift_Del_p.V7fs|CCSAP_ENST00000366687.1_Frame_Shift_Del_p.V7fs|CCSAP_ENST00000483092.1_5'UTR NM_145257.3 NP_660300.3 centriole, cilia and spindle-associated protein TCGCTCTTCACCCCGCTCCCC 0.721 12 35 --- --- --- --- FMN2 56776 broad.mit.edu 37 1 240371608 240371608 + Frame_Shift_Del DEL C C - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:240371608delC ENST00000319653.9 + 5 3726 c.3496delC c.(3496-3498)ccfs p.P1167fs NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 1167 FH1.|Pro-rich. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) ACCCCCACCTCCCCCTCTACC 0.692 9 20 --- --- --- --- OR2W3 343171 broad.mit.edu 37 1 248059733 248059733 + Frame_Shift_Del DEL C C - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr1:248059733delC ENST00000537741.1 + 3 1102 c.845delC c.(844-846)acfs p.T282fs OR2W3_ENST00000360358.3_Frame_Shift_Del_p.T282fs Q7Z3T1 OR2W3_HUMAN olfactory receptor, family 2, subfamily W, member 3 282 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L284fs*14(1) breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 49 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0319) AACATTGTCACCCCCCTCCTC 0.507 23 80 --- --- --- --- ASAP2 8853 broad.mit.edu 37 2 9528643 9528643 + Frame_Shift_Del DEL C C - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:9528643delC ENST00000281419.3 + 22 2691 c.2351delC c.(2350-2352)gcfs p.A784fs ASAP2_ENST00000315273.4_Frame_Shift_Del_p.A784fs|ASAP2_ENST00000491413.1_3'UTR NM_003887.2 NP_003878.1 O43150 ASAP2_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 784 Pro-rich. regulation of ARF GTPase activity Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|protein binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 36 ACCACCAGCGCCCCCCCGCTT 0.577 22 56 --- --- --- --- EMILIN1 11117 broad.mit.edu 37 2 27303108 27303108 + Frame_Shift_Del DEL G G - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:27303108delG ENST00000380320.4 + 2 759 c.260delG c.(259-261)tgfs p.W87fs NM_007046.3 NP_008977.1 Q9Y6C2 EMIL1_HUMAN elastin microfibril interfacer 1 87 EMI. cell adhesion collagen breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 26 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCTTGTGCCTGGGGCCAGCCC 0.612 57 175 --- --- --- --- C2orf71 388939 broad.mit.edu 37 2 29294162 29294162 + Frame_Shift_Del DEL G G - rs113376827 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:29294162delG ENST00000331664.5 - 1 2965 c.2966delC c.(2965-2967)ctfs p.P989fs NM_001029883.2 NP_001025054.1 A6NGG8 CB071_HUMAN chromosome 2 open reading frame 71 989 response to stimulus|visual perception photoreceptor outer segment NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1) 60 TCTGCCCACAGGGGGGCTTCT 0.637 30 58 --- --- --- --- RASGRP3 25780 broad.mit.edu 37 2 33752314 33752315 + Frame_Shift_Ins INS - - A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:33752314_33752315insA ENST00000403687.3 + 10 1658_1659 c.918_919insA c.(916-921)ttaagafs p.R307fs RASGRP3_ENST00000407811.1_Frame_Shift_Ins_p.R307fs|RASGRP3_ENST00000402538.3_Frame_Shift_Ins_p.R307fs NM_001139488.1 NP_001132960.1 Q8IV61 GRP3_HUMAN RAS guanyl releasing protein 3 (calcium and DAG-regulated) 307 Ras-GEF. MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2) 11 all_hematologic(175;0.115) GAGTACACTTGAAAGACTTGAT 0.470 14 50 --- --- --- --- FOXN2 3344 broad.mit.edu 37 2 48600444 48600446 + In_Frame_Del DEL TGC TGC - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:48600444_48600446delTGC ENST00000340553.3 + 6 978_980 c.717_719delTGC c.(715-720)gat>ga p.DA239del NM_002158.3 NP_002149.2 P32314 FOXN2_HUMAN forkhead box N2 239 embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 13 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036) CTGATATTGATGCTGCTGCTGCA 0.305 15 108 --- --- --- --- LINC01122 400955 broad.mit.edu 37 2 58688842 58688843 + RNA DEL CT CT - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:58688842_58688843delCT ENST00000452840.1 + 0 127 TCTCTGCTAGCTCTCTCTCTCT 0.465 11 54 --- --- --- --- OTX1 5013 broad.mit.edu 37 2 63282711 63282713 + In_Frame_Del DEL AAG AAG - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:63282711_63282713delAAG ENST00000366671.3 + 5 601_603 c.325_327delAAG c.(325-327)del p.K111del OTX1_ENST00000282549.2_In_Frame_Del_p.K111del NM_001199770.1 NP_001186699.1 P32242 OTX1_HUMAN orthodenticle homeobox 1 111 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Lung NSC(7;0.121)|all_lung(7;0.211) CCGCCCAGCCAAGAAGAAGTCCT 0.655 22 82 --- --- --- --- ZNF638 27332 broad.mit.edu 37 2 71650549 71650549 + Frame_Shift_Del DEL A A - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:71650549delA ENST00000409544.1 + 22 4535 c.3905delA c.(3904-3906)gafs p.E1302fs ZNF638_ENST00000409407.1_Frame_Shift_Del_p.E242fs|ZNF638_ENST00000355812.3_Intron|ZNF638_ENST00000264447.4_Frame_Shift_Del_p.E1302fs NM_001252612.1 NP_001239541.1 Q14966 ZN638_HUMAN zinc finger protein 638 1302 Glu-rich. RNA splicing cytoplasm|nuclear speck double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1) 63 AATATTTCTGAAAAAAAAGGT 0.368 11 48 --- --- --- --- UNC50 25972 broad.mit.edu 37 2 99232795 99232795 + Frame_Shift_Del DEL T T - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:99232795delT ENST00000409975.1 + 3 1708 c.578delT c.(577-579)ctfs p.L193fs UNC50_ENST00000409347.1_Frame_Shift_Del_p.L193fs|UNC50_ENST00000357765.2_Frame_Shift_Del_p.L176fs Q53HI1 UNC50_HUMAN unc-50 homolog (C. elegans) 176 protein transport Golgi membrane|integral to membrane|nuclear inner membrane RNA binding breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1) 10 TTTATCCAGCTTTTTTTCATC 0.408 10 151 --- --- --- --- MGAT4A 11320 broad.mit.edu 37 2 99242041 99242041 + Frame_Shift_Del DEL T T - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:99242041delT ENST00000393487.1 - 16 1909 c.1596delA c.(1594-1596)aafs p.K532fs MGAT4A_ENST00000264968.2_Frame_Shift_Del_p.K532fs|MGAT4A_ENST00000409391.1_Frame_Shift_Del_p.K532fs|MGAT4A_ENST00000414521.2_Intron NM_012214.2 NP_036346.1 Q9UM21 MGT4A_HUMAN mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A 532 N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine extracellular region|Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1) 19 AGTTGGTGGCTTTTTTAATAT 0.254 10 63 --- --- --- --- MRPS9 64965 broad.mit.edu 37 2 105705511 105705512 + Frame_Shift_Ins INS - - A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:105705511_105705512insA ENST00000258455.3 + 6 669_670 c.559_560insA c.(559-561)aaafs p.K187fs NM_182640.2 NP_872578.1 P82933 RT09_HUMAN mitochondrial ribosomal protein S9 187 DNA damage response, detection of DNA damage|translation mitochondrial small ribosomal subunit protein binding|structural constituent of ribosome breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 18 TCTGCTCCCAGAAAAAACTGTA 0.317 17 61 --- --- --- --- GCC2 9648 broad.mit.edu 37 2 109086477 109086477 + Frame_Shift_Del DEL A A - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:109086477delA ENST00000309863.6 + 6 1406 c.692delA c.(691-693)cafs p.Q231fs GCC2_ENST00000485546.1_3'UTR NM_181453.3 NP_852118.1 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain containing 2 231 Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 CAGCATTACCAAAAAAATATT 0.353 35 150 --- --- --- --- POLR1B 84172 broad.mit.edu 37 2 113332545 113332545 + Frame_Shift_Del DEL T T - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:113332545delT ENST00000263331.5 + 15 3227 c.2647delT c.(2647-2649)ttfs p.F883fs POLR1B_ENST00000417433.2_Frame_Shift_Del_p.F827fs|POLR1B_ENST00000541869.1_Frame_Shift_Del_p.F921fs|POLR1B_ENST00000409894.3_Frame_Shift_Del_p.F700fs|POLR1B_ENST00000537335.1_Frame_Shift_Del_p.F672fs NM_019014.4 NP_061887.2 Q9H9Y6 RPA2_HUMAN polymerase (RNA) I polypeptide B, 128kDa 883 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 42 CGGAGATAAATTTGCCAGTCG 0.473 45 144 --- --- --- --- LOC101928553 101928553 broad.mit.edu 37 2 149627550 149627550 + RNA DEL T T - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:149627550delT ENST00000601658.1 - 0 676 cctttgcccattttttTTTAA 0.328 7 18 --- --- --- --- NEB 4703 broad.mit.edu 37 2 152466344 152466345 + Frame_Shift_Ins INS - - T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:152466344_152466345insT ENST00000427231.2 - 81 12510_12511 c.12308_12309insA c.(12307-12309)agcfs p.S4103fs NEB_ENST00000397345.3_Frame_Shift_Ins_p.S4103fs|NEB_ENST00000409198.1_Frame_Shift_Ins_p.S3860fs|NEB_ENST00000603639.1_Frame_Shift_Ins_p.S4103fs|NEB_ENST00000604864.1_Frame_Shift_Ins_p.S4103fs|NEB_ENST00000172853.10_Frame_Shift_Ins_p.S3860fs NM_001164507.1 NP_001157979.1 P20929 NEBU_HUMAN nebulin 4102 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) GGTCATAGGCCTTTTTTGCTTG 0.446 47 148 --- --- --- --- NEB 4703 broad.mit.edu 37 2 152467061 152467062 + Frame_Shift_Ins INS - - T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:152467061_152467062insT ENST00000427231.2 - 80 12188_12189 c.11986_11987insA c.(11986-11988)tgcfs p.C3996fs NEB_ENST00000397345.3_Frame_Shift_Ins_p.C3996fs|NEB_ENST00000409198.1_Frame_Shift_Ins_p.C3753fs|NEB_ENST00000603639.1_Frame_Shift_Ins_p.C3996fs|NEB_ENST00000604864.1_Frame_Shift_Ins_p.C3996fs|NEB_ENST00000172853.10_Frame_Shift_Ins_p.C3753fs NM_001164507.1 NP_001157979.1 P20929 NEBU_HUMAN nebulin 3995 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) GGCCTTGGCACTTTTGATGGAA 0.490 61 177 --- --- --- --- SLC4A10 57282 broad.mit.edu 37 2 162751202 162751202 + Frame_Shift_Del DEL T T - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:162751202delT ENST00000375514.5 + 11 1438 c.1151delT c.(1150-1152)gtfs p.V384fs SLC4A10_ENST00000446997.1_Frame_Shift_Del_p.V403fs|SLC4A10_ENST00000272716.5_Frame_Shift_Del_p.V373fs|SLC4A10_ENST00000421911.1_Frame_Shift_Del_p.V403fs|SLC4A10_ENST00000415876.2_Frame_Shift_Del_p.V373fs|SLC4A10_ENST00000535165.1_Frame_Shift_Del_p.L374fs|SLC4A10_ENST00000493021.1_3'UTR NM_001178016.1 NP_001171487.1 Q6U841 S4A10_HUMAN solute carrier family 4, sodium bicarbonate transporter, member 10 403 bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 TTTCATGATGTTGCCTATAAA 0.318 15 23 --- --- --- --- DYNC1I2 1781 broad.mit.edu 37 2 172549339 172549339 + Frame_Shift_Del DEL A A - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:172549339delA ENST00000534253.2 + 3 329 c.161delA c.(160-162)gafs p.E54fs DYNC1I2_ENST00000508530.1_Frame_Shift_Del_p.E54fs|DYNC1I2_ENST00000409197.1_Frame_Shift_Del_p.E54fs|DYNC1I2_ENST00000409773.1_Frame_Shift_Del_p.E54fs|DYNC1I2_ENST00000409453.1_Frame_Shift_Del_p.E54fs|DYNC1I2_ENST00000409317.1_Frame_Shift_Del_p.E54fs|DYNC1I2_ENST00000397119.3_Frame_Shift_Del_p.E54fs|DYNC1I2_ENST00000358002.6_Frame_Shift_Del_p.E54fs|DYNC1I2_ENST00000340296.4_Frame_Shift_Del_p.E54fs|DYNC1I2_ENST00000263811.4_Frame_Shift_Del_p.E54fs|DYNC1I2_ENST00000410079.3_Frame_Shift_Del_p.E54fs Q13409 DC1I2_HUMAN dynein, cytoplasmic 1, intermediate chain 2 54 G2/M transition of mitotic cell cycle|interspecies interaction between organisms|microtubule-based movement|transport centrosome|cytosol|dynein complex|microtubule|vesicle microtubule motor activity p.R57fs*13(1) breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1) 15 OV - Ovarian serous cystadenocarcinoma(117;0.198) TCAGATCTTGAAAAAAAAAGG 0.353 8 31 --- --- --- --- TTN 7273 broad.mit.edu 37 2 179486344 179486346 + In_Frame_Del DEL CTC CTC - rs114331773 by1000genomes TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:179486344_179486346delCTC ENST00000589042.1 - 245 45429_45431 c.45205_45207delGAG c.(45205-45207)del p.E15069del TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_In_Frame_Del_p.E6196del|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_In_Frame_Del_p.E6129del|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_In_Frame_Del_p.E12501del|TTN_ENST00000591111.1_In_Frame_Del_p.E13428del|TTN_ENST00000460472.2_In_Frame_Del_p.E6004del NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 13428 Fibronectin type-III 9. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity 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) TTTCAATGATCTCCTCATCCCCT 0.424 20 84 --- --- --- --- ITGAV 3685 broad.mit.edu 37 2 187521085 187521085 + Frame_Shift_Del DEL G G - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:187521085delG ENST00000261023.3 + 17 1950 c.1676delG c.(1675-1677)agfs p.R559fs AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000374907.3_Frame_Shift_Del_p.R523fs|ITGAV_ENST00000433736.2_Frame_Shift_Del_p.R513fs NM_002210.3 NP_002201.1 P06756 ITAV_HUMAN integrin, alpha V 559 angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance integrin complex receptor activity|transforming growth factor beta binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189) STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108) ACTATTTCAAGGGGGGGACTG 0.428 63 207 --- --- --- --- BZW1 9689 broad.mit.edu 37 2 201683504 201683505 + Frame_Shift_Ins INS - - A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:201683504_201683505insA ENST00000409600.1 + 9 1301_1302 c.846_847insA c.(844-849)ataaaafs p.IK282fs BZW1_ENST00000452790.2_Frame_Shift_Ins_p.IK314fs|BZW1_ENST00000409226.1_Frame_Shift_Ins_p.IK286fs NM_001207067.1|NM_014670.3 NP_001193996.1|NP_055485.2 Q7L1Q6 BZW1_HUMAN basic leucine zipper and W2 domains 1 282 W2. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm protein binding breast(1)|kidney(2)|large_intestine(1)|lung(2) 6 AGGAGGAGATGAAAAAAAACAA 0.371 15 57 --- --- --- --- CASP8 841 broad.mit.edu 37 2 202151254 202151254 + Frame_Shift_Del DEL G G - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:202151254delG ENST00000358485.4 + 9 1750 c.1554delG c.(1552-1554)atfs p.M518fs CASP8_ENST00000323492.7_Frame_Shift_Del_p.M444fs|CASP8_ENST00000432109.2_Frame_Shift_Del_p.M459fs|CASP8_ENST00000264275.5_Frame_Shift_Del_p.M476fs|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000264274.9_Frame_Shift_Del_p.M375fs NM_001080125.1 NP_001073594.1 Q14790 CASP8_HUMAN caspase 8, apoptosis-related cysteine peptidase 459 activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor centrosome|cytosol|mitochondrial outer membrane cysteine-type endopeptidase activity|protein binding p.K520fs*19(1)|p.K478fs*19(1) breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3) 52 AGAAAAACATGGGGAAACAGA 0.358 HNSCC(4;0.00038) 13 89 --- --- --- --- TRAK2 66008 broad.mit.edu 37 2 202264170 202264171 + Frame_Shift_Del DEL AA AA - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:202264170_202264171delAA ENST00000332624.3 - 5 837_838 c.409_410delTT c.(409-411)afs p.L137fs TRAK2_ENST00000430254.1_Frame_Shift_Del_p.L137fs NM_015049.2 NP_055864.2 O60296 TRAK2_HUMAN trafficking protein, kinesin binding 2 137 early endosome|plasma membrane GABA receptor binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1) 23 GTTCCGCTTTAAGAGAGCTTGT 0.426 33 75 --- --- --- --- TNS1 7145 broad.mit.edu 37 2 218696257 218696258 + Frame_Shift_Ins INS - - G rs146820371 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:218696257_218696258insG ENST00000171887.4 - 20 3370_3371 c.2918_2919insC c.(2917-2919)cggfs p.R973fs TNS1_ENST00000430930.1_Frame_Shift_Ins_p.R973fs|TNS1_ENST00000419504.1_Frame_Shift_Ins_p.R973fs NM_022648.4 NP_072174.3 Q9HBL0 TENS1_HUMAN tensin 1 973 cytoplasm|cytoskeleton|focal adhesion actin binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) TGGCCAGACCCGGGGGGGACCG 0.634 8 22 --- --- --- --- SPEG 10290 broad.mit.edu 37 2 220315987 220315988 + Frame_Shift_Ins INS - - C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:220315987_220315988insC ENST00000312358.7 + 5 2375_2376 c.2243_2244insC c.(2242-2244)accfs p.T748fs SPEG_ENST00000396695.2_5'UTR|SPEG_ENST00000396698.1_Frame_Shift_Ins_p.T644fs|SPEG_ENST00000485813.1_3'UTR NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 748 Ig-like 2. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) ATCACTGCCAACCCCCCGCCCC 0.629 26 101 --- --- --- --- DIS3L2 129563 broad.mit.edu 37 2 233194612 233194613 + Frame_Shift_Ins INS - - C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:233194612_233194613insC ENST00000325385.7 + 15 2105_2106 c.1829_1830insC c.(1828-1830)cccfs p.P610fs DIS3L2_ENST00000273009.6_Intron|DIS3L2_ENST00000409307.1_Frame_Shift_Ins_p.P610fs NM_152383.4 NP_689596.4 Q8IYB7 DI3L2_HUMAN DIS3 mitotic control homolog (S. cerevisiae)-like 2 610 exonuclease activity|ribonuclease activity|RNA binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1) 40 all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136) Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149) CTGCGCCGGCACCCCCCGCCCC 0.644 12 52 --- --- --- --- ARL4C 10123 broad.mit.edu 37 2 235404658 235404660 + In_Frame_Del DEL CTT CTT - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:235404658_235404660delCTT ENST00000390645.2 - 1 1037_1039 c.571_573delAAG c.(571-573)del p.K191del ARL4C_ENST00000339728.3_In_Frame_Del_p.K191del NM_005737.3 NP_005728.2 P56559 ARL4C_HUMAN ADP-ribosylation factor-like 4C 191 endocytic recycling|small GTPase mediated signal transduction cytoplasm|filopodium|nucleus|plasma membrane alpha-tubulin binding|GTP binding|GTPase activity endometrium(1)|ovary(1)|skin(1)|urinary_tract(1) 4 Breast(86;0.000596)|Renal(207;0.00339)|all_lung(227;0.00354)|all_hematologic(139;0.0494)|Lung NSC(271;0.0496)|Lung SC(224;0.164)|all_neural(83;0.173) Epithelial(121;2.6e-19)|BRCA - Breast invasive adenocarcinoma(100;0.000296)|Lung(119;0.002)|LUSC - Lung squamous cell carcinoma(224;0.0048) CGCATTACCGCTTCTTCTTCTGC 0.581 16 64 --- --- --- --- NDUFA10 4705 broad.mit.edu 37 2 240954220 240954221 + Frame_Shift_Ins INS - - G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:240954220_240954221insG ENST00000252711.2 - 5 704_705 c.604_605insC c.(604-606)cctfs p.P202fs NDUFA10_ENST00000404554.1_Frame_Shift_Ins_p.P202fs|NDUFA10_ENST00000307300.4_Frame_Shift_Ins_p.P242fs NM_004544.3 NP_004535.1 O95299 NDUAA_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa 202 mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport mitochondrial matrix|mitochondrial respiratory chain complex I ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8) 16 all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202) NADH(DB00157) AATCACCAGGTGGGGGGGCAGG 0.535 23 137 --- --- --- --- ING5 84289 broad.mit.edu 37 2 242650899 242650899 + Frame_Shift_Del DEL A A - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr2:242650899delA ENST00000313552.6 + 4 410 c.384delA c.(382-384)ttfs p.L128fs ING5_ENST00000482774.1_3'UTR|ING5_ENST00000406941.1_Frame_Shift_Del_p.L128fs NM_032329.4 NP_115705.2 Q8WYH8 ING5_HUMAN inhibitor of growth family, member 5 128 DNA replication|histone H3 acetylation|negative regulation of cell proliferation|negative regulation of growth|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex protein binding|zinc ion binding large_intestine(1)|lung(1)|skin(1) 3 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839) GGCGAGGGTTAAAAAGCAAGT 0.398 27 99 --- --- --- --- SRGAP3 9901 broad.mit.edu 37 3 9034600 9034600 + Frame_Shift_Del DEL C C - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:9034600delC ENST00000383836.3 - 20 2975 c.2548delG c.(2548-2550)tgfs p.V850fs SRGAP3_ENST00000360413.3_Frame_Shift_Del_p.V826fs NM_014850.3 NP_055665.1 O43295 SRGP2_HUMAN SLIT-ROBO Rho GTPase activating protein 3 850 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding SRGAP3/RAF1(6) breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 OV - Ovarian serous cystadenocarcinoma(96;0.0563) CGGCCCATCACCCCCCCAAAG 0.557 T RAF1 pilocytic astrocytoma 7 167 --- --- --- --- LRRC2 79442 broad.mit.edu 37 3 46580564 46580564 + Frame_Shift_Del DEL T T - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:46580564delT ENST00000395905.3 - 4 853 c.461delA c.(460-462)acfs p.N154fs LRRC2_ENST00000296144.3_Frame_Shift_Del_p.N154fs NM_024512.4 NP_078788.2 Q9BYS8 LRRC2_HUMAN leucine rich repeat containing 2 154 breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1) 17 Ovarian(412;0.0563) OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254) TGAGATTTGGTTTTTTGGCAG 0.438 19 72 --- --- --- --- C3orf62 375341 broad.mit.edu 37 3 49314249 49314251 + In_Frame_Del DEL TCT TCT - rs145714914 byFrequency TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:49314249_49314251delTCT ENST00000343010.3 - 1 1091_1093 c.55_57delAGA c.(55-57)del p.R19del NM_198562.2 NP_940964.1 Q6ZUJ4 CC062_HUMAN chromosome 3 open reading frame 62 19 breast(1)|kidney(1)|large_intestine(1)|lung(3) 6 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) CCTTTCTGCATCTTCTTAGTTTT 0.468 18 51 --- --- --- --- APEH 327 broad.mit.edu 37 3 49719325 49719325 + Frame_Shift_Del DEL C C - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:49719325delC ENST00000296456.5 + 17 1928 c.1528delC c.(1528-1530)ccfs p.P510fs APEH_ENST00000438011.1_Frame_Shift_Del_p.P510fs NM_001640.3 NP_001631.3 P13798 ACPH_HUMAN acylaminoacyl-peptide hydrolase 510 proteolysis cytoplasm|nuclear membrane serine-type endopeptidase activity endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1) 15 BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) TGCAGGGGGGCCCCATTCATC 0.602 43 170 --- --- --- --- RBM6 10180 broad.mit.edu 37 3 50005145 50005145 + Frame_Shift_Del DEL G G - rs141234052 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:50005145delG ENST00000266022.4 + 3 546 c.287delG c.(286-288)agfs p.R96fs RBM6_ENST00000443081.1_5'UTR|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000441115.1_Intron|RBM6_ENST00000539992.1_Intron|RBM6_ENST00000422955.1_Intron NM_005777.2 NP_005768.1 P78332 RBM6_HUMAN RNA binding motif protein 6 96 RNA processing nucleus DNA binding|nucleotide binding|RNA binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977) CATGATTTCAGGGGGGGAGAT 0.493 52 151 --- --- --- --- DOCK3 1795 broad.mit.edu 37 3 51417604 51417604 + Frame_Shift_Del DEL C C - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:51417604delC ENST00000266037.9 + 52 5572 c.5549delC c.(5548-5550)acfs p.T1850fs NM_004947.4 NP_004938.1 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 1850 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding p.P1852fs*45(1) breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) CTGGGTGATACCCCCCCAGCC 0.597 22 81 --- --- --- --- GRM2 2912 broad.mit.edu 37 3 51743196 51743196 + Frame_Shift_Del DEL T T - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:51743196delT ENST00000395052.3 + 2 431 c.197delT c.(196-198)ctfs p.L66fs GRM2_ENST00000442933.2_Frame_Shift_Del_p.L66fs|GRM2_ENST00000475478.1_Intron NM_000839.3 NP_000830.2 Q14416 GRM2_HUMAN glutamate receptor, metabotropic 2 66 synaptic transmission integral to plasma membrane breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Acamprosate(DB00659)|Nicotine(DB00184) GAGGCCATGCTTTTTGCACTG 0.637 49 145 --- --- --- --- STAB1 23166 broad.mit.edu 37 3 52547908 52547908 + Frame_Shift_Del DEL C C - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:52547908delC ENST00000321725.6 + 32 3434 c.3358delC c.(3358-3360)ccfs p.P1121fs NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 1121 cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity p.R1122fs*37(1) breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) GGTCTTACTGCCCCCCCGAGG 0.622 78 257 --- --- --- --- IL17RB 55540 broad.mit.edu 37 3 53889347 53889347 + Frame_Shift_Del DEL A A - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:53889347delA ENST00000288167.3 + 6 517 c.508delA c.(508-510)aafs p.K172fs NM_018725.3 NP_061195.2 Q9NRM6 I17RB_HUMAN interleukin 17 receptor B 172 defense response|regulation of cell growth extracellular region|integral to plasma membrane cytokine receptor activity breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1) 13 BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118) AATGAAATATAAAAAAAAGTG 0.383 7 21 --- --- --- --- ADAMTS9 56999 broad.mit.edu 37 3 64633651 64633652 + Frame_Shift_Del DEL GT GT - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:64633651_64633652delGT ENST00000498707.1 - 11 2016_2017 c.1674_1675delAC c.(1672-1677)acccfs p.TP558fs ADAMTS9_ENST00000295903.4_Frame_Shift_Del_p.TP530fs NM_182920.1 NP_891550.1 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 9 558 Disintegrin. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 100 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) TCGGCCCAGGGTGTGTGCTGAG 0.510 47 163 --- --- --- --- OR5H15 403274 broad.mit.edu 37 3 97887844 97887844 + Frame_Shift_Del DEL T T - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:97887844delT ENST00000356526.2 + 1 301 c.301delT c.(301-303)ttfs p.F102fs NM_001005515.1 NP_001005515.1 A6NDH6 O5H15_HUMAN olfactory receptor, family 5, subfamily H, member 15 102 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1) 35 CAAGATACAATTTTTTTCCAT 0.383 8 232 --- --- --- --- OR5H6 79295 broad.mit.edu 37 3 97983477 97983477 + Frame_Shift_Del DEL T T - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:97983477delT ENST00000383696.2 + 1 390 c.349delT c.(349-351)ttfs p.F118fs RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005479.1 NP_001005479.1 Q8NGV6 OR5H6_HUMAN olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene) 118 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 CATGGTACAATTTTTTTCCCT 0.393 52 162 --- --- --- --- CD96 10225 broad.mit.edu 37 3 111197863 111197868 + RNA DEL CACACA CACACA - rs71968470 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:111197863_111197868delCACACA ENST00000497896.1 - 0 208 CGAACAGCCTcacacacacacacaca 0.544 3 5 --- --- --- --- ZBTB20 26137 broad.mit.edu 37 3 114058003 114058003 + Frame_Shift_Del DEL G G - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:114058003delG ENST00000462705.1 - 12 2677 c.1856delC c.(1855-1857)ctfs p.P619fs ZBTB20_ENST00000357258.3_Frame_Shift_Del_p.P619fs|ZBTB20_ENST00000464560.1_Frame_Shift_Del_p.P619fs|ZBTB20_ENST00000474710.1_Frame_Shift_Del_p.P692fs|ZBTB20_ENST00000481632.1_Frame_Shift_Del_p.P619fs|ZBTB20_ENST00000393785.2_Frame_Shift_Del_p.P619fs|ZBTB20_ENST00000471418.1_Frame_Shift_Del_p.P619fs NM_001164343.1 NP_001157815.1 Q9HC78 ZBT20_HUMAN zinc finger and BTB domain containing 20 692 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.P619fs*43(1) breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191) TGTGCCTGCAGGGGGGGTCCC 0.632 28 95 --- --- --- --- COL6A6 131873 broad.mit.edu 37 3 130318620 130318621 + Frame_Shift_Ins INS - - C rs112135798 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:130318620_130318621insC ENST00000358511.6 + 19 4650_4651 c.4619_4620insC c.(4618-4620)gccfs p.A1540fs COL6A6_ENST00000453409.2_Frame_Shift_Ins_p.A1540fs NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 1540 Triple-helical region. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 GGCTGGCCAGGCCCCCCCGGGA 0.500 13 45 --- --- --- --- DNAJC13 23317 broad.mit.edu 37 3 132209834 132209834 + Frame_Shift_Del DEL T T - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:132209834delT ENST00000260818.6 + 32 3810 c.3562delT c.(3562-3564)ttfs p.F1188fs NM_015268.3 NP_056083.3 O75165 DJC13_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 13 1188 heat shock protein binding breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1) 34 ACCTGAAAAGTTTTCTGAGAT 0.323 12 52 --- --- --- --- PBX2P1 5088 broad.mit.edu 37 3 142895155 142895155 + RNA DEL C C - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:142895155delC ENST00000560287.1 + 0 29 GGCCTCAGGGCCCCCCCCCAG 0.746 4 7 --- --- --- --- PLCH1 23007 broad.mit.edu 37 3 155199125 155199125 + Frame_Shift_Del DEL G G - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:155199125delG ENST00000460012.1 - 23 4957 c.4600delC c.(4600-4602)ggfs p.R1534fs PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000414191.1_Frame_Shift_Del_p.R1534fs|PLCH1_ENST00000340059.7_Frame_Shift_Del_p.R1572fs|PLCH1_ENST00000334686.6_Frame_Shift_Del_p.R1534fs|PLCH1_ENST00000494598.1_Intron Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 1572 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) ACCAGTGCCCGGGGGAGCTGA 0.512 20 92 --- --- --- --- NLGN1 22871 broad.mit.edu 37 3 173525572 173525573 + Frame_Shift_Ins INS - - T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:173525572_173525573insT ENST00000457714.1 + 4 1025_1026 c.596_597insT c.(595-597)atafs p.I199fs NLGN1_ENST00000401917.3_Frame_Shift_Ins_p.I239fs|NLGN1_ENST00000545397.1_Frame_Shift_Ins_p.I199fs|NLGN1_ENST00000361589.4_Frame_Shift_Ins_p.I199fs NM_014932.2 NP_055747.1 Q8N2Q7 NLGN1_HUMAN neuroligin 1 216 calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane cell adhesion molecule binding|neurexin binding|receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 Ovarian(172;0.0025) LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13) GTCTTGGCAAGTTATGGCAATG 0.426 19 91 --- --- --- --- YEATS2 55689 broad.mit.edu 37 3 183521949 183521949 + Frame_Shift_Del DEL G G - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:183521949delG ENST00000305135.5 + 27 3952 c.3757delG c.(3757-3759)tgfs p.V1253fs NM_018023.4 NP_060493.3 Q9ULM3 YETS2_HUMAN YEATS domain containing 2 1253 histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex TBP-class protein binding p.V1253M(1) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3) 49 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) CATCGAGGACGTGCTGACCCA 0.612 42 147 --- --- --- --- CPN2 1370 broad.mit.edu 37 3 194062731 194062731 + Frame_Shift_Del DEL G G - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:194062731delG ENST00000323830.3 - 2 790 c.701delC c.(700-702)ctfs p.P234fs CPN2_ENST00000429275.1_Frame_Shift_Del_p.P234fs NM_001080513.2 NP_001073982.2 P22792 CPN2_HUMAN carboxypeptidase N, polypeptide 2 234 protein stabilization extracellular region enzyme regulator activity breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1) 27 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.65e-05) GAACACCTGAGGGGGCAGCTC 0.602 16 56 --- --- --- --- LINC00969 440993 broad.mit.edu 37 3 195397934 195397934 + RNA DEL A A - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:195397934delA ENST00000445430.1 + 0 919 AATATCTTGTAAAAAAAAGTA 0.343 11 37 --- --- --- --- TFRC 7037 broad.mit.edu 37 3 195796404 195796404 + Frame_Shift_Del DEL T T - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:195796404delT ENST00000360110.4 - 7 892 c.723delA c.(721-723)aafs p.K241fs TFRC_ENST00000420415.1_Frame_Shift_Del_p.K160fs|TFRC_ENST00000392396.3_Frame_Shift_Del_p.K241fs|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000535031.1_5'UTR NM_001128148.1 NP_001121620.1 P02786 TFR1_HUMAN transferrin receptor 241 PA. cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport coated pit|endosome|integral to plasma membrane|melanosome peptidase activity|transferrin receptor activity NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00233) CCTCAAAATCTTTTTTAGTAC 0.343 T BCL6 NHL 13 27 --- --- --- --- UBXN7 26043 broad.mit.edu 37 3 196088753 196088753 + Frame_Shift_Del DEL T T - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:196088753delT ENST00000296328.4 - 10 1344 c.1270delA c.(1270-1272)ggfs p.R424fs UBXN7_ENST00000535858.1_Frame_Shift_Del_p.R276fs|UBXN7_ENST00000428095.1_Frame_Shift_Del_p.R262fs NM_015562.1 NP_056377.1 O94888 UBXN7_HUMAN UBX domain protein 7 424 UBX. protein binding NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 18 ATCTGTTCCCTTTTTCCATCT 0.408 15 44 --- --- --- --- SMCO1 255798 broad.mit.edu 37 3 196234827 196234827 + Frame_Shift_Del DEL C C - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:196234827delC ENST00000397537.2 - 3 732 c.576delG c.(574-576)ggfs p.G192fs NM_001077657.1 NP_001071125.1 single-pass membrane protein with coiled-coil domains 1 TAACTGCTTTCCCCTTCTCAA 0.458 21 41 --- --- --- --- PIGZ 80235 broad.mit.edu 37 3 196674360 196674360 + Frame_Shift_Del DEL G G - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr3:196674360delG ENST00000412723.1 - 3 1554 c.1408delC c.(1408-1410)ggfs p.R470fs NM_025163.2 NP_079439.2 Q86VD9 PIGZ_HUMAN phosphatidylinositol glycan anchor biosynthesis, class Z 470 GPI anchor biosynthetic process integral to membrane|intrinsic to endoplasmic reticulum membrane alpha-1,2-mannosyltransferase activity breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1) 14 all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838) Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00603) AGGAGGTGCCGGGGGGGCATG 0.642 18 90 --- --- --- --- FAM193A 8603 broad.mit.edu 37 4 2695394 2695394 + Frame_Shift_Del DEL C C - rs3208084 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:2695394delC ENST00000324666.5 + 14 2363 c.2012delC c.(2011-2013)gcfs p.A671fs FAM193A_ENST00000545951.1_Frame_Shift_Del_p.A671fs|FAM193A_ENST00000505311.1_Frame_Shift_Del_p.A671fs|FAM193A_ENST00000382839.3_Frame_Shift_Del_p.A671fs|FAM193A_ENST00000502458.1_Frame_Shift_Del_p.A693fs NM_001256666.1 NP_001243595.1 P78312 F193A_HUMAN family with sequence similarity 193, member A 671 p.A671V(1) NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 40 ACGGGCTTGGCCCCCCTCCCA 0.627 73 243 --- --- --- --- RP11-608O21.1 0 broad.mit.edu 37 4 19815895 19815896 + RNA DEL AA AA - rs145239076 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:19815895_19815896delAA ENST00000511431.1 + 0 288 TCTGGGCTGTaaaaaaaaaaaa 0.411 3 3 --- --- --- --- CENPC 1060 broad.mit.edu 37 4 68355753 68355753 + Frame_Shift_Del DEL A A - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:68355753delA ENST00000273853.6 - 17 2852 c.2602delT c.(2602-2604)ctfs p.S868fs NM_001812.2 NP_001803.2 centromere protein C TTCCCAGTAGAAAAAAAGGGT 0.343 8 18 --- --- --- --- THAP6 152815 broad.mit.edu 37 4 76442067 76442067 + Frame_Shift_Del DEL A A - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:76442067delA ENST00000311638.3 + 3 234 c.166delA c.(166-168)aafs p.K57fs THAP6_ENST00000502620.1_Frame_Shift_Del_p.K16fs|THAP6_ENST00000508105.1_Frame_Shift_Del_p.K16fs|THAP6_ENST00000507557.1_Frame_Shift_Del_p.K16fs|THAP6_ENST00000504190.1_Frame_Shift_Del_p.K16fs|THAP6_ENST00000507556.1_Frame_Shift_Del_p.K57fs|THAP6_ENST00000507885.1_Frame_Shift_Del_p.K16fs|THAP6_ENST00000380837.3_Frame_Shift_Del_p.K57fs|THAP6_ENST00000514480.1_Frame_Shift_Del_p.K57fs NM_144721.4 NP_653322.1 Q8TBB0 THAP6_HUMAN THAP domain containing 6 57 microtubule cytoskeleton DNA binding|metal ion binding lung(5) 5 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) TTGGGAGCCTAAAAAAGGAGA 0.378 9 121 --- --- --- --- SCD5 79966 broad.mit.edu 37 4 83719663 83719664 + Frame_Shift_Ins INS - - C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:83719663_83719664insC ENST00000319540.4 - 1 346_347 c.27_28insG c.(25-30)ggagatfs p.D10fs SCD5_ENST00000273908.4_Frame_Shift_Ins_p.D10fs|SCD5_ENST00000282709.4_Frame_Shift_Ins_p.D10fs NM_001037582.2 NP_001032671.2 Q86SK9 SCD5_HUMAN stearoyl-CoA desaturase 5 10 fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane iron ion binding|stearoyl-CoA 9-desaturase activity endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1) 13 Colorectal(4;0.0323)|Hepatocellular(203;0.115) AAAGGGATCTTCCCCGCGTCGG 0.752 7 19 --- --- --- --- LARP7 51574 broad.mit.edu 37 4 113570754 113570754 + Frame_Shift_Del DEL A A - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:113570754delA ENST00000509061.1 + 11 1530 c.1227delA c.(1225-1227)ttfs p.L409fs MIR302B_ENST00000510655.1_RNA|LARP7_ENST00000324052.6_Frame_Shift_Del_p.L402fs|LARP7_ENST00000344442.5_Frame_Shift_Del_p.L402fs NM_001267039.1 NP_001253968.1 Q4G0J3 LARP7_HUMAN La ribonucleoprotein domain family, member 7 402 RNA processing nucleoplasm|ribonucleoprotein complex nucleotide binding|RNA binding p.T405fs*5(2) endometrium(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1) 17 Ovarian(17;0.0443)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000603) TGGCTTCTTTAAAAAAAACAA 0.333 10 14 --- --- --- --- TNIP3 79931 broad.mit.edu 37 4 122068279 122068280 + Frame_Shift_Del DEL TC TC - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:122068279_122068280delTC ENST00000454328.1 - 9 886_887 c.659_660delGA c.(658-660)afs p.R220fs TNIP3_ENST00000057513.3_Frame_Shift_Del_p.R220fs|TNIP3_ENST00000509841.1_Frame_Shift_Del_p.R297fs|TNIP3_ENST00000507879.1_Frame_Shift_Del_p.R290fs|TNIP3_ENST00000511909.1_5'UTR Q96KP6 TNIP3_HUMAN TNFAIP3 interacting protein 3 220 NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2) 24 CTTGATTAAGTCTCTCTCGATC 0.376 18 108 --- --- --- --- SCLT1 132320 broad.mit.edu 37 4 129869675 129869675 + Frame_Shift_Del DEL T T - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:129869675delT ENST00000281142.5 - 15 1772 c.1269delA c.(1267-1269)aafs p.K423fs SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000503215.1_Intron|SCLT1_ENST00000502495.1_5'UTR NM_144643.2 NP_653244.2 Q96NL6 SCLT1_HUMAN sodium channel and clathrin linker 1 423 centrosome central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1) 29 CTTCCACTGCTTTTTTTTCCT 0.328 12 54 --- --- --- --- NAA15 80155 broad.mit.edu 37 4 140291445 140291445 + Frame_Shift_Del DEL A A - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:140291445delA ENST00000296543.5 + 15 2157 c.1834delA c.(1834-1836)aafs p.K613fs NAA15_ENST00000398947.1_Frame_Shift_Del_p.K613fs NM_057175.3 NP_476516.1 Q9BXJ9 NAA15_HUMAN N(alpha)-acetyltransferase 15, NatA auxiliary subunit 613 angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|transcription factor complex protein binding NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 agaagaagagaaaaaaaatgc 0.358 7 7 --- --- --- --- OTUD4 54726 broad.mit.edu 37 4 146059009 146059010 + Frame_Shift_Del DEL TC TC - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:146059009_146059010delTC ENST00000454497.2 - 21 2859_2860 c.2722_2723delGA c.(2722-2724)afs p.E908fs OTUD4_ENST00000447906.2_Frame_Shift_Del_p.E973fs|OTUD4_ENST00000455611.2_Intron NM_001102653.1 NP_001096123.1 Q01804 OTUD4_HUMAN OTU domain containing 4 972 protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) AGGCACAGTTTCTCTCTCTCTG 0.455 60 208 --- --- --- --- TMA16 55319 broad.mit.edu 37 4 164428284 164428285 + Frame_Shift_Ins INS - - A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:164428284_164428285insA ENST00000358572.5 + 2 444_445 c.103_104insA c.(103-105)aaafs p.K35fs TMA16_ENST00000511562.1_3'UTR|TMA16_ENST00000513134.1_Frame_Shift_Ins_p.K35fs|TMA16_ENST00000508268.1_Frame_Shift_Ins_p.K35fs|TMA16_ENST00000513272.1_Frame_Shift_Ins_p.K35fs NM_018352.2 NP_060822.2 Q96EY4 CD043_HUMAN translation machinery associated 16 homolog (S. cerevisiae) 35 p.K37fs*4(1) CCACAAACAAGAAAAAAAGGAA 0.356 6 8 --- --- --- --- TMA16 55319 broad.mit.edu 37 4 164435265 164435265 + Frame_Shift_Del DEL A A - rs2304802 by1000genomes TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:164435265delA ENST00000358572.5 + 4 535 c.194delA c.(193-195)cafs p.Q65fs TMA16_ENST00000511562.1_3'UTR|TMA16_ENST00000513134.1_Frame_Shift_Del_p.Q65fs|TMA16_ENST00000508268.1_Frame_Shift_Del_p.Q65fs|TMA16_ENST00000513272.1_Frame_Shift_Del_p.Q65fs NM_018352.2 NP_060822.2 Q96EY4 CD043_HUMAN translation machinery associated 16 homolog (S. cerevisiae) 65 Q -> P (in dbSNP:rs2304802). p.Q65P(2) CTTGATCCCCAAAAAAAGAGA 0.358 17 61 --- --- --- --- DDX60L 91351 broad.mit.edu 37 4 169325133 169325133 + Splice_Site DEL A A - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:169325133delA ENST00000511577.1 - 25 3585 c.3338_splice c.e25+1 p.L1113_splice DDX60L_ENST00000260184.7_Splice_Site_p.L1113_splice|DDX60L_ENST00000505890.1_Splice_Site_p.L1113_splice Q5H9U9 DDX6L_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like 1113 ATP binding|ATP-dependent helicase activity|RNA binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.175) AGTTACTTACAAAAAAAATAT 0.274 8 14 --- --- --- --- LINC01098 285501 broad.mit.edu 37 4 178897081 178897082 + Frame_Shift_Del DEL TT TT - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr4:178897081_178897082delTT ENST00000507870.1 + 5 746_747 c.284_285delTT c.(283-285)afs p.I95fs lung(8)|prostate(1) 9 CTGAAGTATATTTTTTCTAAAT 0.376 55 145 --- --- --- --- C5orf34 375444 broad.mit.edu 37 5 43487070 43487070 + Frame_Shift_Del DEL T T - rs142072137 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:43487070delT ENST00000306862.2 - 13 2239 c.1864delA c.(1864-1866)ccfs p.T622fs RP11-159F24.3_ENST00000505645.1_RNA NM_198566.2 NP_940968.1 Q96MH7 CE034_HUMAN chromosome 5 open reading frame 34 622 breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2) 21 Lung NSC(6;2.07e-05) ATTTCAGAGGTTTTTTTCAAT 0.289 8 33 --- --- --- --- IL6ST 3572 broad.mit.edu 37 5 55247869 55247869 + Frame_Shift_Del DEL T T - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:55247869delT ENST00000381298.2 - 13 1899 c.1587delA c.(1585-1587)aafs p.K529fs IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000381294.3_Frame_Shift_Del_p.K468fs|IL6ST_ENST00000536319.1_3'UTR|IL6ST_ENST00000502326.3_Frame_Shift_Del_p.K529fs|IL6ST_ENST00000336909.5_Frame_Shift_Del_p.K529fs|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000522633.2_3'UTR|IL6ST_ENST00000381287.4_3'UTR NM_001190981.1|NM_002184.3|NM_175767.2 NP_001177910.1|NP_002175.2|NP_786943.1 P40189 IL6RB_HUMAN interleukin 6 signal transducer (gp130, oncostatin M receptor) 529 Fibronectin type-III 5. interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity p.V530fs*1(1) breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223) TTTTCCCTACTTTTTTTGTCC 0.348 O hepatocellular ca 11 38 --- --- --- --- MARVELD2 153562 broad.mit.edu 37 5 68737375 68737375 + Frame_Shift_Del DEL A A - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:68737375delA ENST00000325631.5 + 7 1645 c.1571delA c.(1570-1572)gafs p.E524fs MARVELD2_ENST00000413223.2_Frame_Shift_Del_p.E408fs NM_001038603.2|NM_001244734.1 NP_001033692.2|NP_001231663.1 Q8N4S9 MALD2_HUMAN MARVEL domain containing 2 524 sensory perception of sound integral to membrane|tight junction NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1) 15 Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16) OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183) ACATTTCTGGAAAAAAAAGAA 0.323 7 32 --- --- --- --- HAPLN1 1404 broad.mit.edu 37 5 82937358 82937358 + Frame_Shift_Del DEL T T - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:82937358delT ENST00000274341.4 - 5 1872 c.1022delA c.(1021-1023)agfs p.K341fs NM_001884.3 NP_001875.1 P10915 HPLN1_HUMAN hyaluronan and proteoglycan link protein 1 341 Link 2. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1) 34 Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29) CAGCTTATGCTTTTTATCTGG 0.493 52 204 --- --- --- --- ERAP1 51752 broad.mit.edu 37 5 96117518 96117518 + Frame_Shift_Del DEL C C - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:96117518delC ENST00000296754.3 - 16 2583 c.2326delG c.(2326-2328)ccfs p.A776fs ERAP1_ENST00000443439.2_Frame_Shift_Del_p.A776fs|ERAP1_ENST00000514604.1_5'UTR NM_016442.3 NP_057526.3 Q9NZ08 ERAP1_HUMAN endoplasmic reticulum aminopeptidase 1 776 angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2) 19 all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244) all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071) GTGCTCTGGGCCCCCACAGCA 0.458 14 66 --- --- --- --- LVRN 206338 broad.mit.edu 37 5 115335468 115335468 + Frame_Shift_Del DEL T T - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:115335468delT ENST00000357872.4 + 7 1508 c.1384delT c.(1384-1386)ttfs p.F463fs AQPEP_ENST00000395528.2_5'UTR NM_173800.4 NP_776161.3 Q6Q4G3 AMPQ_HUMAN 463 proteolysis integral to membrane metallopeptidase activity|zinc ion binding GAATGAGATCTTTTTTTCTAA 0.363 7 33 --- --- --- --- TXNDC15 79770 broad.mit.edu 37 5 134210145 134210145 + Frame_Shift_Del DEL C C - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:134210145delC ENST00000358387.4 + 1 653 c.28delC c.(28-30)ccfs p.P10fs NM_024715.3 NP_078991.3 Q96J42 TXD15_HUMAN thioredoxin domain containing 15 10 cell redox homeostasis integral to membrane breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1) 17 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TCGACGACCGCCCCGCGTCAT 0.716 31 72 --- --- --- --- PCDHB14 56122 broad.mit.edu 37 5 140604247 140604247 + Frame_Shift_Del DEL T T - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:140604247delT ENST00000239449.4 + 1 1170 c.1170delT c.(1168-1170)ccfs p.P390fs PCDHB14_ENST00000515856.2_Frame_Shift_Del_p.P237fs NM_018934.2 NP_061757.1 Q9Y5E9 PCDBE_HUMAN 390 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ATAACCTCCCTTTTTTCCTGA 0.443 8 223 --- --- --- --- PCDHGB2 56103 broad.mit.edu 37 5 140741839 140741840 + Frame_Shift_Ins INS - - A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:140741839_140741840insA ENST00000522605.1 + 1 2137_2138 c.2137_2138insA c.(2137-2139)gcgfs p.A713fs PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron NM_018923.2|NM_032096.1 NP_061746.1|NP_115267.1 p.L713L(1) endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGCAATCTCCCTGCGCCTGCGA 0.569 33 152 --- --- --- --- PCDHGC3 5098 broad.mit.edu 37 5 140857741 140857742 + Frame_Shift_Ins INS - - A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:140857741_140857742insA ENST00000308177.3 + 1 2162_2163 c.2058_2059insA c.(2056-2061)caaaaafs p.QK686fs PCDHGA2_ENST00000394576.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB7_ENST00000398594.2_Intron NM_002588.2|NM_032402.1 NP_002579.2|NP_115778.1 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1) 29 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCCGGGAGCAGAAAAAAAATCT 0.500 OREG0016865 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 400 --- --- --- --- PANK3 79646 broad.mit.edu 37 5 167986153 167986156 + Frame_Shift_Del DEL TGTT TGTT - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:167986153_167986156delTGTT ENST00000239231.6 - 6 1259_1262 c.943_946delAACA c.(943-948)gafs p.NR315fs PANK3_ENST00000520504.1_5'UTR NM_024594.3 NP_078870.1 Q9H999 PANK3_HUMAN pantothenate kinase 3 315 coenzyme A biosynthetic process cytoplasm|nucleus ATP binding|pantothenate kinase activity NS(1)|cervix(2)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 16 Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188) AAGACAACTCTGTTTATTTTCTAA 0.250 8 29 --- --- --- --- DOCK2 1794 broad.mit.edu 37 5 169116296 169116296 + Frame_Shift_Del DEL A A - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:169116296delA ENST00000256935.8 + 9 882 c.802delA c.(802-804)agfs p.K268fs NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 268 actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GGGCTTCCCTAAGGAGATTGA 0.527 11 48 --- --- --- --- MXD3 83463 broad.mit.edu 37 5 176738407 176738408 + Frame_Shift_Ins INS - - G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:176738407_176738408insG ENST00000427908.2 - 2 215_216 c.148_149insC c.(148-150)ggcfs p.G50fs MXD3_ENST00000439742.2_Frame_Shift_Ins_p.G50fs|MXD3_ENST00000513063.1_Frame_Shift_Ins_p.G50fs|MXD3_ENST00000423571.2_Frame_Shift_Ins_p.G50fs NM_001142935.1 NP_001136407.1 Q9BW11 MAD3_HUMAN MAX dimerization protein 3 50 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCCAGGAGCCTGGGGGGGTCGC 0.748 3 5 --- --- --- --- PDLIM7 9260 broad.mit.edu 37 5 176916445 176916445 + Frame_Shift_Del DEL C C - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:176916445delC ENST00000355841.2 - 9 884 c.818delG c.(817-819)gcfs p.G273fs PDLIM7_ENST00000393551.1_Frame_Shift_Del_p.G252fs|PDLIM7_ENST00000356618.4_Frame_Shift_Del_p.G252fs|PDLIM7_ENST00000359895.2_Frame_Shift_Del_p.G239fs NM_005451.3 NP_005442.2 Q9NR12 PDLI7_HUMAN PDZ and LIM domain 7 (enigma) 273 cell differentiation|multicellular organismal development|ossification|receptor-mediated endocytosis cytoplasm|focal adhesion protein binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1) 10 all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GTTGTTGCTGCCCCCTCCTGG 0.677 8 17 --- --- --- --- FLT4 2324 broad.mit.edu 37 5 180053023 180053023 + Frame_Shift_Del DEL G G - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr5:180053023delG ENST00000261937.6 - 10 1345 c.1267delC c.(1267-1269)agfs p.Q423fs FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000393347.3_Frame_Shift_Del_p.Q423fs|FLT4_ENST00000502649.1_Frame_Shift_Del_p.Q423fs NM_182925.4 NP_891555.2 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 423 Ig-like C2-type 5. positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity p.Q423fs*4(2)|p.Q233fs*4(1) NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) TCATGTATCTGGGGGGGCACT 0.672 45 118 --- --- --- --- DEK 7913 broad.mit.edu 37 6 18264188 18264188 + Frame_Shift_Del DEL C C - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:18264188delC ENST00000397239.3 - 2 478 c.31delG c.(31-33)agfs p.E11fs DEK_ENST00000244776.7_Frame_Shift_Del_p.E11fs NM_003472.3 NP_003463.1 P35659 DEK_HUMAN DEK oncogene 11 chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication nucleus DNA binding|histone binding endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 7 Ovarian(93;0.00769)|Breast(50;0.0495) all_hematologic(90;0.053) OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332) GGGGTTCCCTCCCCCTCCGCA 0.677 T NUP214 AML 13 40 --- --- --- --- PPP1R10 5514 broad.mit.edu 37 6 30572457 30572459 + In_Frame_Del DEL GAA GAA - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:30572457_30572459delGAA ENST00000376511.2 - 12 1560_1562 c.1008_1010delTTC c.(1006-1011)tcc>tc p.SS336del NM_002714.3 NP_002705.2 Q96QC0 PP1RA_HUMAN protein phosphatase 1, regulatory subunit 10 336 Interaction with TOX4 (By similarity). protein import into nucleus|transcription, DNA-dependent PTW/PP1 phosphatase complex DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1) 25 TGGTTCTGGGGAAGAAGGTTTGG 0.522 93 449 --- --- --- --- ATAT1 79969 broad.mit.edu 37 6 30613721 30613721 + Frame_Shift_Del DEL G G - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:30613721delG ENST00000330083.5 + 11 1300 c.982delG c.(982-984)ggfs p.G329fs ATAT1_ENST00000468713.1_3'UTR|ATAT1_ENST00000376478.2_Frame_Shift_Del_p.G318fs|ATAT1_ENST00000376485.4_Frame_Shift_Del_p.G341fs NM_001031722.2 NP_001026892.1 Q5SQI0 ATAT_HUMAN alpha tubulin acetyltransferase 1 341 tubulin N-acetyltransferase activity cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 9 CAGCCGCCATGGGGGGGTGAA 0.537 11 14 --- --- --- --- RNF8 9025 broad.mit.edu 37 6 37344706 37344708 + In_Frame_Del DEL AGA AGA - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:37344706_37344708delAGA ENST00000373479.4 + 6 1326_1328 c.1133_1135delAGA c.(1132-1137)gag>g p.EK380del RNF8_ENST00000469731.1_In_Frame_Del_p.EK380del NM_003958.3|NM_183078.2 NP_003949.1|NP_898901.1 O76064 RNF8_HUMAN ring finger protein 8, E3 ubiquitin protein ligase 380 cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation midbody|nucleus|ubiquitin ligase complex chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1) 13 TTGCAGGAAGAGAAGGAGAAGAT 0.404 10 65 --- --- --- --- DNAH8 1769 broad.mit.edu 37 6 38810477 38810478 + Frame_Shift_Ins INS - - T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:38810477_38810478insT ENST00000359357.3 + 33 4246_4247 c.3992_3993insT c.(3991-3993)gttfs p.V1331fs DNAH8_ENST00000441566.1_Frame_Shift_Ins_p.V1331fs|DNAH8_ENST00000449981.2_Frame_Shift_Ins_p.V1548fs dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 GATTGGCAAGCTTTTTTGGATC 0.356 18 66 --- --- --- --- GLP1R 2740 broad.mit.edu 37 6 39047367 39047367 + Frame_Shift_Del DEL C C - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:39047367delC ENST00000373256.4 + 11 1114 c.1071delC c.(1069-1071)atfs p.I357fs NM_002062.3 NP_002053.3 P43220 GLP1R_HUMAN glucagon-like peptide 1 receptor 357 activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion integral to membrane|plasma membrane glucagon receptor activity|peptide receptor activity, G-protein coupled breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2) 31 Exenatide(DB01276)|Glucagon recombinant(DB00040) TGACACTCATCCCCCTGCTGG 0.567 23 53 --- --- --- --- TREM1 54210 broad.mit.edu 37 6 41248876 41248876 + Frame_Shift_Del DEL G G - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:41248876delG ENST00000591620.1 - 3 448 c.422delC c.(421-423)ctfs p.P141fs TREM1_ENST00000244709.4_Frame_Shift_Del_p.P141fs|TREM1_ENST00000589614.1_Frame_Shift_Del_p.P141fs|TREM1_ENST00000334475.6_Intron NM_001242589.1 NP_001229518.1 Q9NP99 TREM1_HUMAN triggering receptor expressed on myeloid cells 1 141 blood coagulation|humoral immune response|intracellular signal transduction|leukocyte migration extracellular region|integral to membrane|intracellular|plasma membrane receptor activity NS(1)|breast(2)|endometrium(2)|large_intestine(5)|lung(5)|skin(1) 16 Ovarian(28;0.0327)|Colorectal(47;0.196) Glutathione(DB00143) ATTGGAGCCAGGGGTCCCTGA 0.488 13 50 --- --- --- --- MUT 4594 broad.mit.edu 37 6 49427151 49427151 + Frame_Shift_Del DEL A A - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:49427151delA ENST00000274813.3 - 2 156 c.29delT c.(28-30)tafs p.L11fs NM_000255.3 NP_000246.2 P22033 MUTA_HUMAN methylmalonyl CoA mutase 11 fatty acid beta-oxidation mitochondrial matrix cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 30 Lung NSC(77;0.0376) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) AGGTGAAAGTAAAAAAAGCTG 0.413 14 68 --- --- --- --- TFAP2D 83741 broad.mit.edu 37 6 50712845 50712845 + Frame_Shift_Del DEL T T - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:50712845delT ENST00000008391.3 + 6 1137 c.909delT c.(907-909)gafs p.D303fs TFAP2D_ENST00000492804.1_3'UTR NM_172238.3 NP_758438.2 Q7Z6R9 AP2D_HUMAN transcription factor AP-2 delta (activating enhancer binding protein 2 delta) 303 H-S-H (helix-span-helix), dimerization. DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1) 60 Lung NSC(77;0.0334) TGGCTCGGGATTTTGGCTACA 0.433 14 54 --- --- --- --- GCM1 8521 broad.mit.edu 37 6 52996817 52996817 + Frame_Shift_Del DEL A A - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:52996817delA ENST00000259803.7 - 4 640 c.429delT c.(427-429)ttfs p.F143fs NM_003643.3 NP_003634.2 Q9NP62 GCM1_HUMAN glial cells missing homolog 1 (Drosophila) 143 transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1) 24 Lung NSC(77;0.0755) GGAAAAATATAAAGCGTCCGT 0.507 14 47 --- --- --- --- EYS 346007 broad.mit.edu 37 6 66094366 66094367 + Frame_Shift_Ins INS - - T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:66094366_66094367insT ENST00000503581.1 - 8 1748_1749 c.1211_1212insA c.(1210-1212)atgfs p.M404fs EYS_ENST00000393380.2_Frame_Shift_Ins_p.M404fs|EYS_ENST00000370618.3_Frame_Shift_Ins_p.M404fs|EYS_ENST00000342421.5_Frame_Shift_Ins_p.M404fs|EYS_ENST00000370616.2_Frame_Shift_Ins_p.M404fs|EYS_ENST00000370621.3_Frame_Shift_Ins_p.M404fs NM_001142800.1 NP_001136272.1 Q5T1H1 EYS_HUMAN eyes shut homolog (Drosophila) 404 EGF-like 5. response to stimulus|visual perception extracellular region calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 69 CTTTCTCACAGTTTTTTTCAGT 0.282 14 37 --- --- --- --- RPF2 84154 broad.mit.edu 37 6 111306297 111306297 + Frame_Shift_Del DEL G G - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:111306297delG ENST00000441448.2 + 2 204 c.112delG c.(112-114)ggfs p.G39fs NM_032194.1 NP_115570.1 Q9H7B2 RPF2_HUMAN ribosome production factor 2 homolog (S. cerevisiae) 39 Brix. nucleolus protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2) 7 GCTGATTAAAGGGGGAAATGC 0.328 26 219 --- --- --- --- TNFAIP3 7128 broad.mit.edu 37 6 138199945 138199945 + Frame_Shift_Del DEL G G - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:138199945delG ENST00000237289.4 + 7 1429 c.1363delG c.(1363-1365)ggfs p.G456fs NM_001270507.1|NM_001270508.1|NM_006290.3 NP_001257436.1|NP_001257437.1|NP_006281.1 P21580 TNAP3_HUMAN tumor necrosis factor, alpha-induced protein 3 456 Interaction with NAF1 (By similarity). anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide centrosome|cytosol|nucleus caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding p.0?(25)|p.P450fs*21(1) breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 225 Breast(32;0.135)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468) GGAGTCCACTGGGGGGCCTCA 0.657 """D, N, F""" """marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma""" 15 75 --- --- --- --- THBS2 7058 broad.mit.edu 37 6 169632254 169632255 + Frame_Shift_Del DEL TG TG - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr6:169632254_169632255delTG ENST00000366787.3 - 14 2220_2221 c.1971_1972delCA c.(1969-1974)caacfs p.HN657fs XXyac-YX65C7_A.2_ENST00000444188.1_RNA NM_003247.2 NP_003238.2 P35442 TSP2_HUMAN thrombospondin 2 657 EGF-like 3. cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 111 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) TTGTGGCAGTTGTGTGTCTTGT 0.629 20 136 --- --- --- --- DNAH11 8701 broad.mit.edu 37 7 21778377 21778378 + Frame_Shift_Ins INS - - A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:21778377_21778378insA ENST00000328843.6 + 48 7756_7757 c.7725_7726insA c.(7723-7728)aaaaaafs p.KK2575fs DNAH11_ENST00000409508.3_Frame_Shift_Ins_p.KK2568fs Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 2575 AAA 3 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 CTGGAGGAAATAAAAAATTGAT 0.391 Kartagener syndrome 3 5 --- --- --- --- DNAH11 8701 broad.mit.edu 37 7 21939669 21939669 + Frame_Shift_Del DEL A A - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:21939669delA ENST00000328843.6 + 82 13286 c.13255delA c.(13255-13257)aafs p.K4420fs DNAH11_ENST00000409508.3_Frame_Shift_Del_p.K4413fs Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 4420 microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 TGATGTTACCAAAAAAACAAA 0.468 Kartagener syndrome 16 36 --- --- --- --- IGF2BP3 10643 broad.mit.edu 37 7 23353164 23353165 + Frame_Shift_Del DEL CT CT - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:23353164_23353165delCT ENST00000258729.3 - 13 1859_1860 c.1503_1504delAG c.(1501-1506)agttfs p.RV501fs NM_006547.2 NP_006538.2 O00425 IF2B3_HUMAN insulin-like growth factor 2 mRNA binding protein 3 501 KH 4. anatomical structure morphogenesis|negative regulation of translation|translation cytosol|nucleus mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1) 34 TTTCCAATAACTCTGCCAGCAG 0.416 36 133 --- --- --- --- ANLN 54443 broad.mit.edu 37 7 36464330 36464331 + Frame_Shift_Ins INS - - A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:36464330_36464331insA ENST00000265748.2 + 17 2909_2910 c.2688_2689insA c.(2686-2691)aaaaaafs p.KK896fs ANLN_ENST00000396068.2_Frame_Shift_Ins_p.KK859fs NM_018685.2 NP_061155.2 Q9NQW6 ANLN_HUMAN anillin, actin binding protein 896 Localization to the cleavage furrow. cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly actomyosin contractile ring|nucleus actin binding breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2) 45 TTGATAAGAAGAAAAAAACATC 0.297 12 37 --- --- --- --- TRGC1 6966 broad.mit.edu 37 7 38305256 38305256 + RNA DEL A A - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:38305256delA ENST00000443402.2 - 0 23 NM_001003799.1|NM_001003806.1 NP_001003799.1|NP_001003806.1 GGCTTGGGGGAAACATCTGCA 0.383 63 263 --- --- --- --- ABCA13 154664 broad.mit.edu 37 7 48313595 48313595 + Frame_Shift_Del DEL A A - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:48313595delA ENST00000435803.1 + 17 4356 c.4332delA c.(4330-4332)atfs p.I1444fs NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 1444 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 TGTTAAATATAAAAAAACCTC 0.269 14 51 --- --- --- --- TYW1B 441250 broad.mit.edu 37 7 72236591 72236591 + RNA DEL A A - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:72236591delA ENST00000438125.1 - 0 577 Q6NUM6 TYW1B_HUMAN tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity AAAAACAAACAAAAAAAACCT 0.333 8 25 --- --- --- --- ASB15 142685 broad.mit.edu 37 7 123269113 123269113 + Frame_Shift_Del DEL T T - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:123269113delT ENST00000451558.1 + 12 1586 c.1065delT c.(1063-1065)tafs p.Y355fs ASB15_ENST00000540573.1_Frame_Shift_Del_p.Y355fs|ASB15_ENST00000275699.3_Frame_Shift_Del_p.Y355fs|ASB15_ENST00000451215.1_Frame_Shift_Del_p.Y355fs|ASB15_ENST00000434204.1_Frame_Shift_Del_p.Y355fs Q8WXK1 ASB15_HUMAN ankyrin repeat and SOCS box containing 15 355 intracellular signal transduction breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3) 12 CTGCGCTGTATTTTGGCGTTT 0.448 36 102 --- --- --- --- TNPO3 23534 broad.mit.edu 37 7 128610312 128610313 + Frame_Shift_Ins INS - - A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:128610312_128610313insA ENST00000393245.1 - 20 2962_2963 c.2589_2590insT c.(2587-2592)ctgacafs p.T864fs TNPO3_ENST00000471166.1_Frame_Shift_Ins_p.T864fs|TNPO3_ENST00000471234.1_Frame_Shift_Ins_p.T766fs|TNPO3_ENST00000265388.5_Frame_Shift_Ins_p.T830fs|TNPO3_ENST00000482320.1_Frame_Shift_Ins_p.T764fs NM_012470.3 NP_036602.1 Q9Y5L0 TNPO3_HUMAN transportin 3 830 splicing factor protein import into nucleus cytoplasm|nucleus protein binding|receptor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3) 22 AGCTGCTGTCCAAGCTGGTTCA 0.485 109 281 --- --- --- --- PODXL 5420 broad.mit.edu 37 7 131189175 131189177 + In_Frame_Del DEL CTC CTC - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:131189175_131189177delCTC ENST00000541194.1 - 9 1833_1835 c.1576_1578delGAG c.(1576-1578)del p.E526del PODXL_ENST00000537928.1_In_Frame_Del_p.E492del|PODXL_ENST00000378555.3_In_Frame_Del_p.E524del|PODXL_ENST00000322985.9_In_Frame_Del_p.E492del NM_001018111.2 NP_001018121.1 O00592 PODXL_HUMAN podocalyxin-like 524 cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle p.E524Q(1) NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 24 Melanoma(18;0.162) CCACCTTCTTCTCCTGCATCTCA 0.567 24 144 --- --- --- --- TRBV7-8 28590 broad.mit.edu 37 7 142099832 142099833 + RNA DEL CA CA - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:142099832_142099833delCA ENST00000390359.3 - 0 88 accactctctcacacacacaca 0.455 22 65 --- --- --- --- REPIN1 29803 broad.mit.edu 37 7 150069439 150069439 + Frame_Shift_Del DEL C C - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:150069439delC ENST00000397281.2 + 4 1598 c.1109delC c.(1108-1110)gcfs p.A370fs RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000489432.2_Frame_Shift_Del_p.A427fs|REPIN1_ENST00000425389.2_Frame_Shift_Del_p.A370fs|REPIN1_ENST00000479668.1_3'UTR|REPIN1_ENST00000540729.1_Frame_Shift_Del_p.A370fs|REPIN1_ENST00000444957.1_Frame_Shift_Del_p.A370fs NM_013400.3 NP_037532.2 Q9BWE0 REPI1_HUMAN replication initiator 1 370 Pro-rich. DNA replication nuclear origin of replication recognition complex DNA binding|zinc ion binding cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 14 Ovarian(565;0.183)|Melanoma(164;0.226) OV - Ovarian serous cystadenocarcinoma(82;0.011) CCGATCGAAGCCCCCCCCTCC 0.751 3 4 --- --- --- --- SLC4A2 6522 broad.mit.edu 37 7 150764061 150764061 + Frame_Shift_Del DEL C C - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:150764061delC ENST00000485713.1 + 7 1987 c.947delC c.(946-948)gcfs p.A316fs SLC4A2_ENST00000392826.2_Frame_Shift_Del_p.A307fs|SLC4A2_ENST00000413384.2_Frame_Shift_Del_p.A316fs|SLC4A2_ENST00000461735.1_Frame_Shift_Del_p.A302fs|SLC4A2_ENST00000310317.5_Frame_Shift_Del_p.A234fs NM_001199692.1 NP_001186621.1 P04920 B3A2_HUMAN solute carrier family 4 (anion exchanger), member 2 316 Pro-rich. bicarbonate transport integral to membrane|membrane fraction inorganic anion exchanger activity NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CGACCCCGGGCCCCCCACAAG 0.637 38 136 --- --- --- --- NUB1 51667 broad.mit.edu 37 7 151064135 151064135 + Frame_Shift_Del DEL A A - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:151064135delA ENST00000568733.1 + 9 1049 c.983delA c.(982-984)gafs p.E328fs NUB1_ENST00000566856.1_Frame_Shift_Del_p.E304fs|NUB1_ENST00000355851.4_Frame_Shift_Del_p.E304fs|NUB1_ENST00000413040.2_Frame_Shift_Del_p.E328fs Q9Y5A7 NUB1_HUMAN negative regulator of ubiquitin-like proteins 1 304 positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process nucleus protein binding endometrium(1)|large_intestine(7)|lung(3) 11 OV - Ovarian serous cystadenocarcinoma(82;0.00569) UCEC - Uterine corpus endometrioid carcinoma (81;0.172) GATGATGCAGAAAAAAAATTA 0.423 16 57 --- --- --- --- GALNT11 63917 broad.mit.edu 37 7 151791468 151791468 + Frame_Shift_Del DEL A A - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr7:151791468delA ENST00000434507.1 + 4 593 c.156delA c.(154-156)ccfs p.P52fs GALNT11_ENST00000415421.1_Frame_Shift_Del_p.P52fs|GALNT11_ENST00000482812.1_3'UTR|GALNT11_ENST00000452146.2_Intron|GALNT11_ENST00000320311.2_Frame_Shift_Del_p.P52fs|GALNT11_ENST00000430044.2_Frame_Shift_Del_p.P52fs|GALNT11_ENST00000422997.2_Frame_Shift_Del_p.P52fs Q8NCW6 GLT11_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11) 52 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2) 27 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.214) OV - Ovarian serous cystadenocarcinoma(82;0.00168) UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932) GACCATCTCCAAAAAAATTCT 0.473 44 159 --- --- --- --- FBXO25 26260 broad.mit.edu 37 8 381399 381399 + Frame_Shift_Del DEL A A - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:381399delA ENST00000352684.2 + 3 459 c.42delA c.(40-42)cgfs p.R14fs FBXO25_ENST00000350302.3_Frame_Shift_Del_p.K66fs|FBXO25_ENST00000276326.5_Frame_Shift_Del_p.K66fs|FBXO25_ENST00000382824.1_Frame_Shift_Del_p.R14fs NM_012173.3 NP_036305.2 Q8TCJ0 FBX25_HUMAN F-box protein 25 0 Interaction with beta-actin. nucleus|SCF ubiquitin ligase complex actin binding|ubiquitin-protein ligase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1) 10 Ovarian(12;0.00965)|Colorectal(14;0.0815)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122) Epithelial(5;3.14e-14)|OV - Ovarian serous cystadenocarcinoma(5;1.56e-07)|BRCA - Breast invasive adenocarcinoma(11;1.88e-06) ATATGCATCGAAAAAAAGGAA 0.259 17 100 --- --- --- --- ERICH1 157697 broad.mit.edu 37 8 623865 623865 + Frame_Shift_Del DEL T T - rs145266372 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:623865delT ENST00000262109.7 - 4 564 c.487delA c.(487-489)ggfs p.R163fs ERICH1_ENST00000522706.1_Frame_Shift_Del_p.R69fs|ERICH1_ENST00000518277.1_5'UTR NM_207332.1 NP_997215.1 Q86X53 ERIC1_HUMAN glutamate-rich 1 163 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1) 20 Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236) Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325) TTCAGTTTCCTTTTTTTATTT 0.433 36 62 --- --- --- --- SPAG11A 653423 broad.mit.edu 37 8 7718228 7718228 + Frame_Shift_Del DEL T T - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:7718228delT ENST00000326558.5 + 3 298 c.275delT c.(274-276)ctfs p.L92fs SPAG11A_ENST00000454911.2_3'UTR|SPAG11A_ENST00000351436.4_Intron|SPAG11A_ENST00000434307.2_3'UTR|SPAG11A_ENST00000326625.5_Frame_Shift_Del_p.L39fs NM_001081552.2 NP_001075021.2 sperm associated antigen 11A p.L92H(1) central_nervous_system(1)|lung(2) 3 COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236) ATCTGCAGACTTTTTTTCTGC 0.413 30 93 --- --- --- --- TNKS 8658 broad.mit.edu 37 8 9567543 9567544 + Frame_Shift_Ins INS - - A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:9567543_9567544insA ENST00000310430.6 + 10 1683_1684 c.1657_1658insA c.(1657-1659)aaafs p.K553fs TNKS_ENST00000518281.1_Frame_Shift_Ins_p.K316fs|TNKS_ENST00000520408.1_Frame_Shift_Ins_p.K553fs NM_003747.2 NP_003738.2 O95271 TNKS1_HUMAN tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 553 mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2) 49 COAD - Colon adenocarcinoma(149;0.0467) AAATGTTAATGAAAAAAATAAA 0.342 7 39 --- --- --- --- TNFRSF10D 8793 broad.mit.edu 37 8 22995432 22995432 + Frame_Shift_Del DEL T T - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:22995432delT ENST00000312584.3 - 9 1206 c.1112delA c.(1111-1113)agfs p.K371fs NM_003840.4 NP_003831.2 Q9UBN6 TR10D_HUMAN tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain 371 anti-apoptosis|apoptosis integral to membrane TRAIL binding|transmembrane receptor activity endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 9 Prostate(55;0.0421)|Breast(100;0.067) Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612) ATAAAAGAGCTTTTCGGAGCC 0.483 26 81 --- --- --- --- ZNF395 55893 broad.mit.edu 37 8 28210819 28210819 + Frame_Shift_Del DEL G G - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:28210819delG ENST00000344423.5 - 5 821 c.690delC c.(688-690)ccfs p.P230fs ZNF395_ENST00000523202.1_Frame_Shift_Del_p.P230fs|ZNF395_ENST00000523095.1_Frame_Shift_Del_p.P230fs NM_018660.2 NP_061130.1 Q9H8N7 ZN395_HUMAN zinc finger protein 395 230 transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Ovarian(32;2.06e-05) KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142) GGGGGGGCGAGGGGGTGGAGA 0.622 20 41 --- --- --- --- RB1CC1 9821 broad.mit.edu 37 8 53586705 53586705 + Frame_Shift_Del DEL C C - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:53586705delC ENST00000025008.5 - 7 1225 c.702delG c.(700-702)atfs p.M234fs RB1CC1_ENST00000435644.2_Frame_Shift_Del_p.M234fs|RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000539297.1_Frame_Shift_Del_p.M234fs NM_014781.4 NP_055596.3 Q8TDY2 RBCC1_HUMAN RB1-inducible coiled-coil 1 234 M -> T (in dbSNP:rs17337252). autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex protein binding NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 60 all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023) TGGATCTTTTCATCTCAGCTT 0.428 20 321 --- --- --- --- TGS1 96764 broad.mit.edu 37 8 56711599 56711599 + Frame_Shift_Del DEL A A - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:56711599delA ENST00000260129.5 + 8 2146 c.1669delA c.(1669-1671)aafs p.K558fs NM_024831.6 NP_079107.6 Q96RS0 TGS1_HUMAN trimethylguanosine synthase 1 558 cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent Cajal body|cytosol RNA trimethylguanosine synthase activity breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147) Epithelial(17;0.00027)|all cancers(17;0.00251) CATGTCTGTTAAAAAAGGTGA 0.403 32 123 --- --- --- --- LYN 4067 broad.mit.edu 37 8 56863054 56863054 + Frame_Shift_Del DEL A A - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:56863054delA ENST00000520220.2 + 5 532 c.258delA c.(256-258)acfs p.T86fs LYN_ENST00000519728.1_Frame_Shift_Del_p.T107fs NM_001111097.2 NP_001104567.1 P07948 LYN_HUMAN v-yes-1 Yamaguchi sarcoma viral related oncogene homolog 107 SH3. erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 22 all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772) Epithelial(17;0.000834)|all cancers(17;0.00598) CCCTTTTAACAAAAAAAGAAG 0.378 167 306 --- --- --- --- SGK3 23678 broad.mit.edu 37 8 67752238 67752239 + Splice_Site INS - - T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:67752238_67752239insT ENST00000396596.1 + 11 956_957 c.741_splice c.e11-1 p.F248_splice SGK3_ENST00000520976.1_Splice_Site_p.F248_splice|SGK3_ENST00000521435.1_3'UTR|SGK3_ENST00000522398.1_Splice_Site_p.F248_splice|C8orf44-SGK3_ENST00000519289.1_Splice_Site_p.F248_splice|SGK3_ENST00000345714.4_Splice_Site_p.F248_splice|SGK3_ENST00000521198.2_Splice_Site_p.F248_splice NM_013257.4 NP_037389.4 Q96BR1 SGK3_HUMAN serum/glucocorticoid regulated kinase family, member 3 248 Protein kinase. cell communication|response to stress cytoplasmic membrane-bounded vesicle|early endosome ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 18 Breast(64;0.186) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206) AATTTGACAGCTTTTTTTCCAC 0.401 18 111 --- --- --- --- SLCO5A1 81796 broad.mit.edu 37 8 70744246 70744246 + Frame_Shift_Del DEL G G - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:70744246delG ENST00000260126.3 - 2 1369 c.663delC c.(661-663)ccfs p.P221fs SLCO5A1_ENST00000530307.1_Frame_Shift_Del_p.P221fs|SLCO5A1_ENST00000524945.1_Frame_Shift_Del_p.P221fs|SLCO5A1_ENST00000528658.1_5'UTR NM_030958.2 NP_112220.2 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, member 5A1 221 integral to membrane|plasma membrane transporter activity p.Y222fs*6(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) GGATCTGGTAGGGGGGCGAGA 0.677 18 46 --- --- --- --- ZBTB10 65986 broad.mit.edu 37 8 81431473 81431473 + Frame_Shift_Del DEL A A - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:81431473delA ENST00000430430.1 + 7 3105 c.2326delA c.(2326-2328)aafs p.K777fs ZBTB10_ENST00000426744.2_Frame_Shift_Del_p.K753fs|ZBTB10_ENST00000379091.4_Frame_Shift_Del_p.K485fs|ZBTB10_ENST00000455036.3_Frame_Shift_Del_p.K777fs NM_001277145.1 NP_001264074.1 Q96DT7 ZBT10_HUMAN zinc finger and BTB domain containing 10 777 transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4) 20 all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06) BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296) TAAAAAGGATAAAAAATACAA 0.338 17 62 --- --- --- --- SLC7A13 157724 broad.mit.edu 37 8 87229783 87229784 + Frame_Shift_Ins INS - - A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:87229783_87229784insA ENST00000297524.3 - 3 1197_1198 c.1094_1095insT c.(1093-1095)tacfs p.Y365fs SLC7A13_ENST00000419776.2_Frame_Shift_Ins_p.Y356fs NM_138817.2 NP_620172.2 Q8TCU3 S7A13_HUMAN solute carrier family 7 (anionic amino acid transporter), member 13 365 integral to membrane amino acid transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 45 ATGAACCCGTGAAAAAAATATA 0.337 31 68 --- --- --- --- KIAA1429 25962 broad.mit.edu 37 8 95531563 95531563 + Frame_Shift_Del DEL A A - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:95531563delA ENST00000297591.5 - 9 2238 c.2163delT c.(2161-2163)ttfs p.F721fs KIAA1429_ENST00000421249.2_Frame_Shift_Del_p.F721fs|KIAA1429_ENST00000437199.1_Frame_Shift_Del_p.F721fs NM_015496.4 NP_056311.2 Q69YN4 VIR_HUMAN KIAA1429 721 mRNA processing|RNA splicing nucleus NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) ATTCCGACATAAAAAAAAGAA 0.403 25 77 --- --- --- --- PKHD1L1 93035 broad.mit.edu 37 8 110476892 110476892 + Frame_Shift_Del DEL T T - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:110476892delT ENST00000378402.5 + 49 7935 c.7831delT c.(7831-7833)ttfs p.F2612fs NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 2612 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) CCTTGGCGAATTTTTTAACAA 0.443 HNSCC(38;0.096) 60 184 --- --- --- --- TRPS1 7227 broad.mit.edu 37 8 116631857 116631857 + Frame_Shift_Del DEL G G - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:116631857delG ENST00000395715.3 - 3 1045 c.468delC c.(466-468)ccfs p.P156fs TRPS1_ENST00000520276.1_Frame_Shift_Del_p.P147fs|TRPS1_ENST00000519674.1_Frame_Shift_Del_p.P143fs|TRPS1_ENST00000519076.1_Frame_Shift_Del_p.P97fs|TRPS1_ENST00000220888.5_Frame_Shift_Del_p.P143fs NM_014112.2 NP_054831.2 Q9UHF7 TRPS1_HUMAN trichorhinophalangeal syndrome I 143 negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 111 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) AGTCCCCTGAGGGGGTGCAGG 0.532 Langer-Giedion syndrome 35 103 --- --- --- --- COL14A1 7373 broad.mit.edu 37 8 121259922 121259922 + Frame_Shift_Del DEL C C - rs61738288 byFrequency TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:121259922delC ENST00000297848.3 + 21 2820 c.2550delC c.(2548-2550)gafs p.D850fs COL14A1_ENST00000309791.4_Frame_Shift_Del_p.D850fs|COL14A1_ENST00000247781.3_Frame_Shift_Del_p.D755fs|COL14A1_ENST00000432943.2_3'UTR NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 850 Fibronectin type-III 7. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) TTACGTGGGACCCCCCATCTT 0.463 46 128 --- --- --- --- FAM91A1 157769 broad.mit.edu 37 8 124796763 124796767 + Frame_Shift_Del DEL ACTCT ACTCT - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:124796763_124796767delACTCT ENST00000334705.7 + 9 1003_1007 c.757_761delACTCT c.(757-762)afs p.TL253fs FAM91A1_ENST00000521166.1_Frame_Shift_Del_p.TL253fs NM_144963.2 NP_659400.2 Q658Y4 F91A1_HUMAN family with sequence similarity 91, member A1 253 breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 28 Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00192) TTATTTTGAAACTCTACTCTATAAG 0.317 10 65 --- --- --- --- PUF60 22827 broad.mit.edu 37 8 144899293 144899295 + In_Frame_Del DEL AGG AGG - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:144899293_144899295delAGG ENST00000526683.1 - 11 1720_1722 c.1165_1167delCCT c.(1165-1167)del p.P389del PUF60_ENST00000453551.2_In_Frame_Del_p.P346del|PUF60_ENST00000527197.1_In_Frame_Del_p.P343del|PUF60_ENST00000349157.6_In_Frame_Del_p.P372del|PUF60_ENST00000313352.7_In_Frame_Del_p.P329del|PUF60_ENST00000524570.1_5'UTR|PUF60_ENST00000456095.2_In_Frame_Del_p.P360del NM_001271098.1|NM_078480.1 NP_001258027.1|NP_510965.1 Q9UHX1 PUF60_HUMAN poly-U binding splicing factor 60KDa 389 Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction. apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent nucleus|ribonucleoprotein complex DNA binding|nucleotide binding|protein binding|RNA binding NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2) 14 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) TGACCGGGATAGGAGGACGGGCT 0.631 11 24 --- --- --- --- PLEC 5339 broad.mit.edu 37 8 145006691 145006692 + Frame_Shift_Ins INS - - A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:145006691_145006692insA ENST00000322810.4 - 16 2433_2434 c.2264_2265insT c.(2263-2265)tcafs p.S755fs PLEC_ENST00000356346.3_Frame_Shift_Ins_p.S604fs|PLEC_ENST00000354589.3_Frame_Shift_Ins_p.S618fs|PLEC_ENST00000357649.2_Frame_Shift_Ins_p.S622fs|PLEC_ENST00000354958.2_Frame_Shift_Ins_p.S596fs|PLEC_ENST00000436759.2_Frame_Shift_Ins_p.S645fs|PLEC_ENST00000527096.1_Frame_Shift_Ins_p.S641fs|PLEC_ENST00000345136.3_Frame_Shift_Ins_p.S618fs|PLEC_ENST00000398774.2_Frame_Shift_Ins_p.S586fs NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 755 Globular 1. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 CAAAGCTGTGCAAGCTCTCCAG 0.644 76 122 --- --- --- --- PLEC 5339 broad.mit.edu 37 8 145024532 145024532 + Frame_Shift_Del DEL G G - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:145024532delG ENST00000322810.4 - 1 512 c.343delC c.(343-345)acfs p.H115fs PLEC_ENST00000356346.3_Intron|PLEC_ENST00000354958.2_Intron|PLEC_ENST00000436759.2_Intron|PLEC_ENST00000527096.1_Intron NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 115 Globular 1. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 GCCTGCACGTGGGGGGTGCGG 0.731 16 15 --- --- --- --- ARHGAP39 80728 broad.mit.edu 37 8 145806259 145806277 + Frame_Shift_Del DEL CGCCGCGGGCCGCCCGGCC CGCCGCGGGCCGCCCGGCC - rs117042905 by1000genomes TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr8:145806259_145806277delCGCCGCGGGCCGCCCGGCC ENST00000276826.5 - 2 666_684 c.465_483delGGCCGGGCGGCCCGCGGCG c.(463-483)agfs p.RAGRPAA155fs ARHGAP39_ENST00000377307.2_Frame_Shift_Del_p.RAGRPAA155fs|ARHGAP39_ENST00000540274.1_Frame_Shift_Del_p.RAGRPAA155fs Q9C0H5 RHG39_HUMAN Rho GTPase activating protein 39 155 axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|nucleus GTPase activator activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 CTGTCCCAAACGCCGCGGGCCGCCCGGCCCTCGCTGGCA 0.726 7 46 --- --- --- --- CNTLN 54875 broad.mit.edu 37 9 17462981 17462983 + In_Frame_Del DEL AAG AAG - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:17462981_17462983delAAG ENST00000380647.3 + 20 3458_3460 c.3374_3376delAAG c.(3373-3378)aaa>a p.KE1125del CNTLN_ENST00000262360.5_In_Frame_Del_p.KE1125del|CNTLN_ENST00000425824.1_In_Frame_Del_p.KE1125del Q9NXG0 CNTLN_HUMAN centlein, centrosomal protein 1125 centriole|membrane two-component sensor activity breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 GBM - Glioblastoma multiforme(50;6.14e-10) CTCCTAGCAAAAGAAGAACACAT 0.320 9 56 --- --- --- --- DENND4C 55667 broad.mit.edu 37 9 19296163 19296164 + Frame_Shift_Ins INS - - T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:19296163_19296164insT ENST00000380432.2 + 2 284_285 c.251_252insT c.(250-252)cttfs p.L84fs DENND4C_ENST00000602925.1_Frame_Shift_Ins_p.L320fs|DENND4C_ENST00000307015.9_5'UTR|DENND4C_ENST00000434457.2_Frame_Shift_Ins_p.L320fs NM_017925.4 NP_060395.5 Q5VZ89 DEN4C_HUMAN DENN/MADD domain containing 4C 84 DENN. integral to membrane breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 TCACACTGGCCTTTTTTTGAAG 0.366 28 133 --- --- --- --- FOCAD 54914 broad.mit.edu 37 9 20758147 20758147 + Frame_Shift_Del DEL T T - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:20758147delT ENST00000380249.1 + 8 815 c.451delT c.(451-453)ttfs p.F151fs FOCAD_ENST00000338382.6_Frame_Shift_Del_p.F151fs NM_017794.3 NP_060264.3 Q5VW36 K1797_HUMAN focadhesin 151 integral to membrane binding CTGGCCAGTGTTTTTGCAGCA 0.408 16 56 --- --- --- --- PTENP1 11191 broad.mit.edu 37 9 33675365 33675365 + RNA DEL A A - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:33675365delA ENST00000532280.1 - 0 2132 NR_023917.1 TATTGCCATTAAAAAAAAAGG 0.323 4 8 --- --- --- --- C9orf131 138724 broad.mit.edu 37 9 35043650 35043650 + Frame_Shift_Del DEL C C - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:35043650delC ENST00000312292.5 + 2 1071 c.1024delC c.(1024-1026)ccfs p.P343fs C9orf131_ENST00000421362.2_Frame_Shift_Del_p.P295fs|C9orf131_ENST00000354479.5_Frame_Shift_Del_p.P270fs NM_001040410.1|NM_203299.2 NP_001035500.1|NP_976044.2 Q5VYM1 CI131_HUMAN chromosome 9 open reading frame 131 343 cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1) 39 all_epithelial(49;0.22) LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309) TCCGATGCCACCCCCCTGCCA 0.527 133 634 --- --- --- --- ZCCHC7 84186 broad.mit.edu 37 9 37357250 37357250 + Frame_Shift_Del DEL A A - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:37357250delA ENST00000336755.5 + 9 1723 c.1617delA c.(1615-1617)agfs p.R539fs ZCCHC7_ENST00000534928.1_Frame_Shift_Del_p.R249fs|ZCCHC7_ENST00000461038.1_3'UTR NM_032226.2 NP_115602.2 Q8N3Z6 ZCHC7_HUMAN zinc finger, CCHC domain containing 7 539 R -> K (in dbSNP:rs1051465). nucleic acid binding|zinc ion binding central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 30 GBM - Glioblastoma multiforme(29;0.0137) TTAAGCAGAGAAAAAAAAAGT 0.408 20 49 --- --- --- --- SPATA31D5P 347127 broad.mit.edu 37 9 84531279 84531279 + RNA DEL A A - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:84531279delA ENST00000527857.1 + 0 1301 NR_026851.1 GAGACAAGTCAAAAAAAGGAG 0.393 4 9 --- --- --- --- KIF27 55582 broad.mit.edu 37 9 86523470 86523470 + Frame_Shift_Del DEL T T - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:86523470delT ENST00000297814.2 - 3 539 c.396delA c.(394-396)aafs p.K132fs KIF27_ENST00000413982.1_Frame_Shift_Del_p.K132fs|KIF27_ENST00000334204.2_Frame_Shift_Del_p.K132fs NM_017576.1 NP_060046.1 Q86VH2 KIF27_HUMAN kinesin family member 27 132 Kinesin-motor. cilium assembly|microtubule-based movement cilium|cytoplasm|microtubule ATP binding|microtubule motor activity breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 43 TATAAGATACTTTTACATTAA 0.378 46 127 --- --- --- --- FGD3 89846 broad.mit.edu 37 9 95738900 95738900 + Frame_Shift_Del DEL C C - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:95738900delC ENST00000375482.3 + 3 858 c.362delC c.(361-363)acfs p.T121fs FGD3_ENST00000468206.1_3'UTR|FGD3_ENST00000416701.2_Frame_Shift_Del_p.T121fs|FGD3_ENST00000337352.6_Frame_Shift_Del_p.T121fs NM_001083536.1 NP_001077005.1 Q5JSP0 FGD3_HUMAN FYVE, RhoGEF and PH domain containing 3 121 actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding p.Q123fs*10(2) breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1) 17 CCGAAGGTCACCCCCCAGGAG 0.662 18 45 --- --- --- --- ERCC6L2 375748 broad.mit.edu 37 9 98774880 98774880 + Frame_Shift_Del DEL T T - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:98774880delT ENST00000407474.3 + 4 1504 c.991delT c.(991-993)ttfs p.F332fs Q5T890 RAD26_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2 67 Helicase ATP-binding. DNA repair nucleus ATP binding|ATP-dependent helicase activity|DNA binding AGAAGAGGTGTTTTTTAATGA 0.348 12 62 --- --- --- --- FKTN 2218 broad.mit.edu 37 9 108382270 108382270 + Frame_Shift_Del DEL T T - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:108382270delT ENST00000223528.2 + 9 1224 c.1100delT c.(1099-1101)gtfs p.V367fs FKTN_ENST00000357998.5_Frame_Shift_Del_p.V367fs|FKTN_ENST00000448551.2_Frame_Shift_Del_p.V367fs|FKTN_ENST00000602661.1_Frame_Shift_Del_p.V367fs|FKTN_ENST00000540160.1_Intron NM_006731.2 NP_006722.2 O75072 FKTN_HUMAN fukutin 367 muscle organ development|negative regulation of cell proliferation|negative regulation of JNK cascade|nervous system development|regulation of protein glycosylation cis-Golgi network|endoplasmic reticulum|extracellular space|Golgi membrane|integral to membrane|nucleus transferase activity breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 25 AAACTTGATGTTTTTTTCTTC 0.348 12 36 --- --- --- --- CNTRL 11064 broad.mit.edu 37 9 123921184 123921184 + Frame_Shift_Del DEL A A - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:123921184delA ENST00000373855.1 + 31 5076 c.4816delA c.(4816-4818)aafs p.K1607fs CNTRL_ENST00000238341.5_Frame_Shift_Del_p.K1607fs|CNTRL_ENST00000373844.1_Frame_Shift_Del_p.K52fs|CNTRL_ENST00000373850.1_Frame_Shift_Del_p.K1055fs|CNTRL_ENST00000373845.2_3'UTR Q7Z7A1 CNTRL_HUMAN centriolin 1607 cell division|G2/M transition of mitotic cell cycle centrosome|cytosol protein binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3) 20 GTTAGGGCATAAAAAGGAGGA 0.493 47 161 --- --- --- --- TTF1 7270 broad.mit.edu 37 9 135277541 135277541 + Frame_Shift_Del DEL T T - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:135277541delT ENST00000334270.2 - 2 707 c.668delA c.(667-669)agfs p.K225fs NM_001205296.1|NM_007344.3 NP_001192225.1|NP_031370.2 Q15361 TTF1_HUMAN transcription termination factor, RNA polymerase I 225 Poly-Lys. negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription nucleolus|nucleoplasm DNA binding endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05) GGACTTTTTCTTTTTTTTCTT 0.493 13 46 --- --- --- --- TSC1 7248 broad.mit.edu 37 9 135786806 135786808 + In_Frame_Del DEL GAG GAG - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:135786806_135786808delGAG ENST00000403810.1 - 10 1294_1296 c.1061_1063delCTC c.(1060-1065)ctg>c p.PL354del TSC1_ENST00000440111.2_Intron|TSC1_ENST00000298552.3_Intron|TSC1_ENST00000545250.1_Intron Q92574 TSC1_HUMAN tuberous sclerosis 1 359 activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus cell cortex|lamellipodium|membrane|TSC1-TSC2 complex chaperone binding|protein N-terminus binding p.?(1) NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 65 OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06) CCAGAAAGCAGAGGAGAGAGCAG 0.468 """D, Mis, N, F, S""" """hamartoma, renal cell""" Tuberous Sclerosis 29 95 --- --- --- --- COL5A1 1289 broad.mit.edu 37 9 137642390 137642390 + Frame_Shift_Del DEL C C - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr9:137642390delC ENST00000371817.3 + 12 1911 c.1497delC c.(1495-1497)ggfs p.G499fs NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 499 Interrupted collagenous region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding p.P501fs*57(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) GTCTTCAGGGCCCCCCTGGAC 0.667 27 79 --- --- --- --- TUBB8 347688 broad.mit.edu 37 10 93252 93252 + Frame_Shift_Del DEL C C - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:93252delC ENST00000447903.2 - 4 1179 c.864delG c.(862-864)ggfs p.G288fs TUBB8_ENST00000309812.4_Frame_Shift_Del_p.G360fs Q3ZCM7 TBB8_HUMAN tubulin, beta 8 class VIII 360 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1) 32 all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235) Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132) ACATTTTTAGCCCCCGGGGTG 0.478 10 205 --- --- --- --- UPF2 26019 broad.mit.edu 37 10 12021070 12021070 + Frame_Shift_Del DEL C C - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:12021070delC ENST00000356352.2 - 8 2412 c.1939delG c.(1939-1941)atfs p.D647fs UPF2_ENST00000357604.5_Frame_Shift_Del_p.D647fs|UPF2_ENST00000397053.2_Frame_Shift_Del_p.D647fs Q9HAU5 RENT2_HUMAN UPF2 regulator of nonsense transcripts homolog (yeast) 647 MIF4G 2. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay exon-exon junction complex|perinuclear region of cytoplasm identical protein binding|RNA binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2) 56 Renal(717;0.228) AATCTGAAATCCCCCCTCAGC 0.353 14 62 --- --- --- --- OPTN 10133 broad.mit.edu 37 10 13151192 13151192 + Frame_Shift_Del DEL C C - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:13151192delC ENST00000378748.3 + 4 432 c.70delC c.(70-72)ccfs p.P25fs OPTN_ENST00000378764.2_Frame_Shift_Del_p.P25fs|OPTN_ENST00000263036.5_Frame_Shift_Del_p.P25fs|OPTN_ENST00000378757.2_Frame_Shift_Del_p.P25fs|OPTN_ENST00000378752.3_Frame_Shift_Del_p.P25fs|OPTN_ENST00000378747.3_Frame_Shift_Del_p.P25fs|OPTN_ENST00000482140.1_3'UTR NM_001008211.1|NM_001008213.1 NP_001008212.1|NP_001008214.1 Q96CV9 OPTN_HUMAN optineurin 25 cell death|Golgi ribbon formation|Golgi to plasma membrane protein transport|protein targeting to Golgi|signal transduction perinuclear region of cytoplasm|trans-Golgi network protein C-terminus binding breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 22 AGGAAATGGACCCCCCCACCT 0.557 57 199 --- --- --- --- PTPLA 9200 broad.mit.edu 37 10 17636370 17636370 + Frame_Shift_Del DEL A A - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:17636370delA ENST00000361271.3 - 6 655 c.618delT c.(616-618)ttfs p.F206fs NM_014241.3 NP_055056.3 B0YJ81 HACD1_HUMAN protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A 206 fatty acid biosynthetic process|multicellular organismal development|signal transduction endoplasmic reticulum membrane|integral to membrane lyase activity|protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1) 13 ATAAGATGATAAAAAAATTAT 0.313 13 52 --- --- --- --- PARD3 56288 broad.mit.edu 37 10 34666942 34666942 + Frame_Shift_Del DEL C C - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:34666942delC ENST00000374789.3 - 10 1817 c.1492delG c.(1492-1494)cgfs p.A499fs PARD3_ENST00000374776.1_Frame_Shift_Del_p.A499fs|PARD3_ENST00000350537.4_Frame_Shift_Del_p.A499fs|PARD3_ENST00000346874.4_Frame_Shift_Del_p.A499fs|PARD3_ENST00000374773.1_Frame_Shift_Del_p.A499fs|PARD3_ENST00000545693.1_Frame_Shift_Del_p.A499fs|PARD3_ENST00000340077.5_Frame_Shift_Del_p.A499fs|PARD3_ENST00000545260.1_Frame_Shift_Del_p.A455fs|PARD3_ENST00000374788.3_Frame_Shift_Del_p.A499fs|PARD3_ENST00000374790.3_Frame_Shift_Del_p.A455fs|PARD3_ENST00000544292.1_Frame_Shift_Del_p.A229fs|PARD3_ENST00000374794.3_Frame_Shift_Del_p.A455fs NM_019619.3 NP_062565.2 Q8TEW0 PARD3_HUMAN par-3 family cell polarity regulator 499 PDZ 2. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 63 Breast(68;0.0707) TGAATGGCCGCCCCCCGGGGG 0.483 49 177 --- --- --- --- FAM21EP 100421577 broad.mit.edu 37 10 51821328 51821328 + RNA DEL G G - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:51821328delG ENST00000456967.1 - 0 1306 NR_038275.1 CGGTCAGCTTGGGGGGTGCGA 0.517 10 229 --- --- --- --- FAM21EP 100421577 broad.mit.edu 37 10 51822385 51822385 + RNA DEL A A - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:51822385delA ENST00000456967.1 - 0 1278 NR_038275.1 GAATTCAGGGAAAAGGCCCAC 0.428 28 81 --- --- --- --- ZSWIM8 23053 broad.mit.edu 37 10 75553466 75553466 + Frame_Shift_Del DEL C C - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:75553466delC ENST00000604729.1 + 11 2731 c.2434delC c.(2434-2436)ccfs p.P813fs ZSWIM8_ENST00000431225.1_3'UTR|ZSWIM8_ENST00000603114.1_Frame_Shift_Del_p.P780fs|ZSWIM8_ENST00000398706.2_Frame_Shift_Del_p.P813fs|ZSWIM8_ENST00000604524.1_Frame_Shift_Del_p.P813fs|ZSWIM8_ENST00000605216.1_Frame_Shift_Del_p.P813fs zinc finger, SWIM-type containing 8 GGTAGAGCCGCCCCCTGCCAA 0.632 22 92 --- --- --- --- PLAU 5328 broad.mit.edu 37 10 75673438 75673438 + Frame_Shift_Del DEL G G - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:75673438delG ENST00000446342.1 + 6 1033 c.551delG c.(550-552)cgfs p.R184fs C10orf55_ENST00000409178.1_Intron|PLAU_ENST00000494287.1_3'UTR|PLAU_ENST00000372764.3_Frame_Shift_Del_p.R201fs|PLAU_ENST00000372762.4_Frame_Shift_Del_p.R165fs|C10orf55_ENST00000412307.2_Intron NM_001145031.1 NP_001138503.1 P00749 UROK_HUMAN plasminogen activator, urokinase 201 Peptidase S1. blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction cell surface|extracellular space|plasma membrane serine-type endopeptidase activity cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2) 16 Prostate(51;0.0112) Amiloride(DB00594)|Urokinase(DB00013) AGGAGGCACCGGGGGGGCTCT 0.587 48 191 --- --- --- --- STAMBPL1 57559 broad.mit.edu 37 10 90682146 90682146 + Frame_Shift_Del DEL A A - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:90682146delA ENST00000371927.3 + 10 2165 c.1207delA c.(1207-1209)aafs p.K405fs STAMBPL1_ENST00000371926.3_Frame_Shift_Del_p.K405fs|STAMBPL1_ENST00000371924.1_Frame_Shift_Del_p.K405fs|STAMBPL1_ENST00000371922.1_Frame_Shift_Del_p.K239fs Q96FJ0 STALP_HUMAN STAM binding protein-like 1 405 metal ion binding|metallopeptidase activity|protein binding breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1) 11 Colorectal(252;0.0381) Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05) TTCTGCTTGTAAAAAAAAGGG 0.423 45 46 --- --- --- --- HTR7 3363 broad.mit.edu 37 10 92502258 92502258 + Frame_Shift_Del DEL T T - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:92502258delT ENST00000371721.3 - 4 1663 c.1421delA c.(1420-1422)agfs p.K474fs HTR7_ENST00000277874.6_Frame_Shift_Del_p.K441fs|HTR7_ENST00000336152.3_Frame_Shift_Del_p.K474fs|HTR7_ENST00000371719.2_3'UTR P34969 5HT7R_HUMAN 5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled 474 blood circulation|circadian rhythm integral to plasma membrane protein binding|serotonin receptor activity NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246) AATCATGACCTTTTTTTCTAC 0.328 13 46 --- --- --- --- TM9SF3 56889 broad.mit.edu 37 10 98292810 98292810 + Frame_Shift_Del DEL T T - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:98292810delT ENST00000371142.4 - 10 1539 c.1323delA c.(1321-1323)aafs p.K441fs NM_020123.3 NP_064508.3 Q9HD45 TM9S3_HUMAN transmembrane 9 superfamily member 3 441 integral to membrane binding breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1) 15 Colorectal(252;0.158) Epithelial(162;1.84e-09)|all cancers(201;2.84e-08) CTCTTTACCATTTTTTCTCCG 0.378 41 129 --- --- --- --- PAX2 5076 broad.mit.edu 37 10 102587324 102587324 + Frame_Shift_Del DEL C C - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:102587324delC ENST00000428433.1 + 11 1752 c.1202delC c.(1201-1203)gcfs p.A401fs PAX2_ENST00000556085.1_Frame_Shift_Del_p.A377fs|PAX2_ENST00000355243.3_Frame_Shift_Del_p.A378fs|PAX2_ENST00000370296.2_3'UTR|PAX2_ENST00000361791.3_3'UTR NM_003987.3|NM_003990.3 NP_003978.2|NP_003981.2 Q02962 PAX2_HUMAN paired box 2 401 anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception centriolar satellite|nucleus|protein complex|protein-DNA complex core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 18 Colorectal(252;0.234) Epithelial(162;1.32e-08)|all cancers(201;7.32e-07) TATAGTGCCGCCCCCCGGGGC 0.572 31 122 --- --- --- --- NT5C2 22978 broad.mit.edu 37 10 104857078 104857081 + Frame_Shift_Del DEL AAGA AAGA - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:104857078_104857081delAAGA ENST00000343289.5 - 10 825_828 c.738_741delTCTT c.(736-741)ttfs p.FL246fs NT5C2_ENST00000369857.4_5'UTR|NT5C2_ENST00000423468.2_Frame_Shift_Del_p.FL217fs|NT5C2_ENST00000404739.3_Frame_Shift_Del_p.FL246fs NM_001134373.2|NM_012229.4 NP_001127845.1|NP_036361.1 P49902 5NTC_HUMAN 5'-nucleotidase, cytosolic II 246 purine base metabolic process|purine nucleotide catabolic process cytosol 5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1) 16 all_hematologic(284;0.176)|Colorectal(252;0.178) Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159) Adenosine triphosphate(DB00171)|Ribavirin(DB00811) TGTTGGTAGCAAGAAATACTTTCC 0.343 24 106 --- --- --- --- SH3PXD2A 9644 broad.mit.edu 37 10 105363391 105363391 + Frame_Shift_Del DEL G G - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:105363391delG ENST00000369774.4 - 15 1860 c.1584delC c.(1582-1584)ccfs p.P528fs SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000538130.1_Frame_Shift_Del_p.P363fs|SH3PXD2A_ENST00000355946.2_Frame_Shift_Del_p.P500fs|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000540321.1_Frame_Shift_Del_p.P395fs Q5TCZ1 SPD2A_HUMAN SH3 and PX domains 2A 528 cell communication|superoxide metabolic process cell junction|cell projection|cytoplasm|podosome phosphatidylinositol binding|protein binding p.S501fs*43(1) breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1) 38 Colorectal(252;0.0815)|Breast(234;0.131) Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119) TGGGCTTGCTGGGGGGTGCTG 0.667 27 62 --- --- --- --- ADD3 120 broad.mit.edu 37 10 111893350 111893350 + Frame_Shift_Del DEL A A - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:111893350delA ENST00000277900.8 + 14 2364 c.1999delA c.(1999-2001)aafs p.K669fs ADD3_ENST00000356080.4_Frame_Shift_Del_p.K701fs|ADD3_ENST00000360162.3_Frame_Shift_Del_p.K669fs NM_001121.2 NP_001112.2 Q9UEY8 ADDG_HUMAN adducin 3 (gamma) 701 cytoskeleton actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 29 Breast(234;0.052)|Lung NSC(174;0.223) Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742) GAAAAAGAACAAAAAAAAGGA 0.333 34 125 --- --- --- --- TECTB 6975 broad.mit.edu 37 10 114045891 114045891 + Frame_Shift_Del DEL A A - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:114045891delA ENST00000369422.3 + 3 330 c.330delA c.(328-330)gtfs p.V110fs NM_058222.1 NP_478129.1 Q96PL2 TECTB_HUMAN tectorin beta 110 ZP. anchored to membrane|plasma membrane|proteinaceous extracellular matrix kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 19 Colorectal(252;0.198) Epithelial(162;0.0143)|all cancers(201;0.0242) CAGTGATTGTAAAAAACCAGC 0.473 20 115 --- --- --- --- CASP7 840 broad.mit.edu 37 10 115485283 115485285 + In_Frame_Del DEL TCT TCT - rs141266925 byFrequency TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:115485283_115485285delTCT ENST00000369321.2 + 6 958_960 c.638_640delTCT c.(637-642)ctc>c p.LF213del CASP7_ENST00000369331.4_Intron|CASP7_ENST00000452490.2_In_Frame_Del_p.LF155del|CASP7_ENST00000369318.3_In_Frame_Del_p.LF180del|CASP7_ENST00000345633.4_In_Frame_Del_p.LF180del|CASP7_ENST00000369315.1_In_Frame_Del_p.LF180del NM_033338.5 NP_203124.1 P55210 CASP7_HUMAN caspase 7, apoptosis-related cysteine peptidase 180 activation of caspase activity by cytochrome c|cellular component disassembly involved in apoptosis|induction of apoptosis by intracellular signals|proteolysis cytosol|endoplasmic reticulum membrane|mitochondrial membrane|nucleoplasm cysteine-type endopeptidase activity|protein binding kidney(1)|large_intestine(1)|lung(5)|ovary(1) 8 Colorectal(252;0.0946)|Breast(234;0.188) Epithelial(162;0.012)|all cancers(201;0.014) AAACCCAAACTCTTCTTCATTCA 0.394 19 51 --- --- --- --- DCLRE1A 9937 broad.mit.edu 37 10 115609831 115609832 + Frame_Shift_Ins INS - - A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:115609831_115609832insA ENST00000361384.2 - 2 1949_1950 c.1032_1033insT c.(1030-1035)ttaaaafs p.L344fs DCLRE1A_ENST00000369305.1_Frame_Shift_Ins_p.L344fs NM_014881.3 NP_055696.3 Q6PJP8 DCR1A_HUMAN DNA cross-link repair 1A 344 cell division|mitosis nucleus hydrolase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1) 31 Epithelial(162;0.0157)|all cancers(201;0.0171) TGTCGTTTTTTAAAAAAACCAC 0.406 Other identified genes with known or suspected DNA repair function 29 129 --- --- --- --- BAG3 9531 broad.mit.edu 37 10 121431867 121431867 + Frame_Shift_Del DEL G G - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:121431867delG ENST00000369085.3 + 3 914 c.608delG c.(607-609)cgfs p.R203fs NM_004281.3 NP_004272.2 O95817 BAG3_HUMAN BCL2-associated athanogene 3 203 anti-apoptosis|apoptosis|protein folding cytosol endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 20 Lung NSC(174;0.109)|all_lung(145;0.142) all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148) CAGCTCCCGCGGGGGTACATC 0.652 35 121 --- --- --- --- GPR26 2849 broad.mit.edu 37 10 125447486 125447486 + Frame_Shift_Del DEL G G - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr10:125447486delG ENST00000284674.1 + 3 877 c.824delG c.(823-825)tgfs p.W275fs NM_153442.3 NP_703143.1 Q8NDV2 GPR26_HUMAN G protein-coupled receptor 26 275 activation of adenylate cyclase activity by G-protein signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 20 Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226) GGCTCCCACTGGGGGGTGCTG 0.582 26 112 --- --- --- --- PKP3 11187 broad.mit.edu 37 11 404002 404002 + Frame_Shift_Del DEL C C - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:404002delC ENST00000331563.2 + 11 2213 c.2137delC c.(2137-2139)ccfs p.P714fs NM_007183.2 NP_009114.1 Q9Y446 PKP3_HUMAN plakophilin 3 714 cell adhesion desmosome|nucleus binding breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703) TGAGAAGTCGCCCCCAGCCGA 0.642 25 63 --- --- --- --- MUC5B 727897 broad.mit.edu 37 11 1268066 1268066 + Frame_Shift_Del DEL C C - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:1268066delC ENST00000447027.1 + 31 10023 c.9965delC c.(9964-9966)acfs p.T3322fs RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Frame_Shift_Del_p.T3319fs Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 3319 17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. Missing (in Ref. 6; AAB61398). cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) TTCACAGCCACCCCCTCCTCC 0.647 45 107 --- --- --- --- CTSD 1509 broad.mit.edu 37 11 1780830 1780830 + Frame_Shift_Del DEL G G - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:1780830delG ENST00000236671.2 - 3 400 c.268delC c.(268-270)agfs p.Q90fs NM_001909.4 NP_001900.1 P07339 CATD_HUMAN cathepsin D 90 cell death|proteolysis extracellular space|lysosome|melanosome aspartic-type endopeptidase activity p.Q90fs*50(1) endometrium(1)|large_intestine(4)|lung(8) 13 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GTGAAGCACTGGGGGGGCGTC 0.647 19 81 --- --- --- --- TNNI2 7136 broad.mit.edu 37 11 1862091 1862093 + In_Frame_Del DEL GAG GAG - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:1862091_1862093delGAG ENST00000381906.1 + 6 298_300 c.229_231delGAG c.(229-231)del p.E78del TNNI2_ENST00000381911.1_In_Frame_Del_p.E78del|TNNI2_ENST00000252898.7_In_Frame_Del_p.E78del|TNNI2_ENST00000381905.3_In_Frame_Del_p.E78del NM_001145829.1 NP_001139301.1 P48788 TNNI2_HUMAN troponin I type 2 (skeletal, fast) 78 muscle filament sliding|positive regulation of transcription, DNA-dependent|skeletal muscle contraction cytosol|nucleus|troponin complex actin binding|troponin T binding lung(8)|prostate(1)|urinary_tract(1) 10 all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) TGCGGCTGAAGAGGAGAAGTACG 0.680 17 47 --- --- --- --- TRIM6-TRIM34 445372 broad.mit.edu 37 11 5653492 5653492 + Frame_Shift_Del DEL G G - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:5653492delG ENST00000354852.5 + 8 1166 c.993delG c.(991-993)cafs p.Q331fs TRIM34_ENST00000514226.1_5'UTR|TRIM34_ENST00000429814.2_5'UTR|HBG2_ENST00000380259.2_Intron NM_001003819.3 NP_001003819.1 B2RNG4 B2RNG4_HUMAN 331 intracellular zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1) 33 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145) CAGCCATCCAGGGGTCTTTAA 0.438 OREG0003725 type=REGULATORY REGION|Gene=TRIM34|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 10 124 --- --- --- --- RIC3 79608 broad.mit.edu 37 11 8161539 8161539 + Frame_Shift_Del DEL A A - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:8161539delA ENST00000343202.4 - 2 391 c.326delT c.(325-327)tafs p.L109fs RIC3_ENST00000425599.2_Frame_Shift_Del_p.L109fs|RIC3_ENST00000309737.6_Frame_Shift_Del_p.L109fs|RIC3_ENST00000539720.1_Frame_Shift_Del_p.L60fs|RIC3_ENST00000335425.7_Intron|RIC3_ENST00000419822.2_Frame_Shift_Del_p.L109fs NM_001206671.2|NM_024557.4 NP_001193600.1|NP_078833.3 Q7Z5B4 RIC3_HUMAN RIC3 acetylcholine receptor chaperone 109 endoplasmic reticulum membrane|Golgi membrane|integral to membrane breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1) 17 Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204) CAGTATATATAAAAAAATCCC 0.353 13 74 --- --- --- --- SPTY2D1 144108 broad.mit.edu 37 11 18636367 18636367 + Frame_Shift_Del DEL G G - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:18636367delG ENST00000336349.5 - 3 1689 c.1454delC c.(1453-1455)cgfs p.P485fs NM_194285.2 NP_919261.2 Q68D10 SPT2_HUMAN SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae) 485 Ser-rich. breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1) 30 AGACCGCCCCGGGGGGCCCAA 0.597 17 69 --- --- --- --- API5 8539 broad.mit.edu 37 11 43364020 43364020 + Frame_Shift_Del DEL G G - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:43364020delG ENST00000455725.2 + 15 1747 c.1502delG c.(1501-1503)tgfs p.W501fs API5_ENST00000420461.2_3'UTR|API5_ENST00000534695.1_Intron|API5_ENST00000378852.3_3'UTR|API5_ENST00000531273.1_Frame_Shift_Del_p.W512fs|RP11-484D2.2_ENST00000526220.1_RNA Q9BZZ5 API5_HUMAN apoptosis inhibitor 5 0 anti-apoptosis|apoptosis cytoplasm|spliceosomal complex fibroblast growth factor binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1) 20 GGCCGAGGTTGGGGCACACGA 0.463 22 98 --- --- --- --- CHRM4 1132 broad.mit.edu 37 11 46407278 46407278 + Frame_Shift_Del DEL G G - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:46407278delG ENST00000433765.2 - 1 829 c.830delC c.(829-831)cgfs p.P278fs NM_000741.2 NP_000732.2 P08173 ACM4_HUMAN cholinergic receptor, muscarinic 4 278 cell proliferation cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1) 20 GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14) Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809) CAGCGCTGGCGGGGGGGCCTC 0.672 11 31 --- --- --- --- AGBL2 79841 broad.mit.edu 37 11 47684631 47684631 + Frame_Shift_Del DEL G G - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:47684631delG ENST00000525123.1 - 18 2767 c.2482delC c.(2482-2484)tgfs p.L828fs AGBL2_ENST00000357610.3_Frame_Shift_Del_p.L830fs|AGBL2_ENST00000298861.4_Frame_Shift_Del_p.L828fs NM_024783.3 NP_079059.2 Q5U5Z8 CBPC2_HUMAN ATP/GTP binding protein-like 2 828 proteolysis cytosol metallocarboxypeptidase activity|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1) 34 GATGGGTCCAGGGGGGTGTCT 0.358 48 165 --- --- --- --- OR4D10 390197 broad.mit.edu 37 11 59245082 59245082 + Frame_Shift_Del DEL T T - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:59245082delT ENST00000530162.1 + 1 237 c.180delT c.(178-180)tafs p.Y60fs NM_001004705.1 NP_001004705.1 Q8NGI6 OR4DA_HUMAN olfactory receptor, family 4, subfamily D, member 10 60 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 CGCCCATGTATTTTTTGCTCC 0.438 59 231 --- --- --- --- MTA2 9219 broad.mit.edu 37 11 62362913 62362914 + Frame_Shift_Del DEL GA GA - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:62362913_62362914delGA ENST00000278823.2 - 14 1694_1695 c.1305_1306delTC c.(1303-1308)tcctfs p.SP435fs MTA2_ENST00000527204.1_Frame_Shift_Del_p.SP262fs|MTA2_ENST00000524902.1_Frame_Shift_Del_p.SP262fs NM_004739.3 NP_004730.2 O94776 MTA2_HUMAN metastasis associated 1 family, member 2 435 chromatin assembly or disassembly NuRD complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 26 GTTGTGTAAGGAGAGAGACTTT 0.505 37 108 --- --- --- --- INTS5 80789 broad.mit.edu 37 11 62415151 62415151 + Frame_Shift_Del DEL C C - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:62415151delC ENST00000330574.2 - 2 2453 c.2401delG c.(2401-2403)cafs p.A801fs NM_030628.1 NP_085131.1 Q6P9B9 INT5_HUMAN integrator complex subunit 5 801 snRNA processing integral to membrane|integrator complex protein binding breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 36 AAGATGGGTGCCCCCCAGCAT 0.607 57 180 --- --- --- --- MALAT1 378938 broad.mit.edu 37 11 65268677 65268678 + RNA INS - - G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:65268677_65268678insG ENST00000534336.1 + 0 3445_3446 NR_002819.2 GTAACTGAGGCGGGGGGGAGTT 0.396 7 53 --- --- --- --- YIF1A 10897 broad.mit.edu 37 11 66055346 66055346 + Frame_Shift_Del DEL A A - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:66055346delA ENST00000376901.4 - 3 469 c.285delT c.(283-285)ttfs p.F95fs YIF1A_ENST00000471387.2_Intron|YIF1A_ENST00000359461.6_Frame_Shift_Del_p.F95fs NM_020470.2 NP_065203.2 O95070 YIF1A_HUMAN Yip1 interacting factor homolog A (S. cerevisiae) 95 protein transport|vesicle-mediated transport centrosome|endoplasmic reticulum membrane|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)|stomach(1) 9 TGTCCACAGCAAAAAAATACT 0.592 8 303 --- --- --- --- KDM2A 22992 broad.mit.edu 37 11 66983411 66983412 + Frame_Shift_Ins INS - - G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:66983411_66983412insG ENST00000529006.2 + 8 1124_1125 c.678_679insG c.(676-681)caggggfs p.QG226fs KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000398645.2_Frame_Shift_Ins_p.QG226fs NM_012308.2 NP_036440.1 Q9Y2K7 KDM2A_HUMAN lysine (K)-specific demethylase 2A 226 JmjC. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2) 36 ACATCCATCAAGGGGGAAAGGT 0.421 10 318 --- --- --- --- PITPNM1 9600 broad.mit.edu 37 11 67267648 67267649 + Frame_Shift_Ins INS - - G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:67267648_67267649insG ENST00000356404.3 - 6 1109_1110 c.884_885insC c.(883-885)cggfs p.R295fs PITPNM1_ENST00000436757.2_Frame_Shift_Ins_p.R295fs|PITPNM1_ENST00000534749.1_Frame_Shift_Ins_p.R295fs NM_001130848.1|NM_004910.2 NP_001124320.1|NP_004901.2 O00562 PITM1_HUMAN phosphatidylinositol transfer protein, membrane-associated 1 295 brain development|lipid metabolic process|phototransduction|protein transport cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody metal ion binding|phosphatidylinositol transporter activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3) 18 CATCTGGGCCTGGGGGGGCCTC 0.693 34 95 --- --- --- --- RELT 84957 broad.mit.edu 37 11 73101867 73101868 + Frame_Shift_Ins INS - - C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:73101867_73101868insC ENST00000064780.2 + 4 449_450 c.188_189insC c.(187-189)accfs p.T63fs RELT_ENST00000393580.2_Frame_Shift_Ins_p.T63fs NM_152222.1 NP_689408.1 Q969Z4 TR19L_HUMAN RELT tumor necrosis factor receptor 63 cytoplasm|integral to membrane|plasma membrane binding|receptor activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1) 12 TGGGGCTCCAGCCCATGCCAGC 0.649 11 132 --- --- --- --- POLD3 10714 broad.mit.edu 37 11 74336609 74336609 + Frame_Shift_Del DEL A A - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:74336609delA ENST00000263681.2 + 8 1019 c.890delA c.(889-891)gafs p.E297fs POLD3_ENST00000527458.1_Frame_Shift_Del_p.E258fs|POLD3_ENST00000532497.1_Frame_Shift_Del_p.E191fs NM_006591.2 NP_006582.1 Q15054 DPOD3_HUMAN polymerase (DNA-directed), delta 3, accessory subunit 297 base-excision repair|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|mismatch repair|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair delta DNA polymerase complex|nucleoplasm DNA-directed DNA polymerase activity|protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1) 18 Breast(11;3.21e-06) CTGCAGAAGGAAAAAAAAAGG 0.458 30 24 --- --- --- --- SLCO2B1 11309 broad.mit.edu 37 11 74915461 74915463 + In_Frame_Del DEL TTC TTC - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:74915461_74915463delTTC ENST00000289575.5 + 14 2361_2363 c.1966_1968delTTC c.(1966-1968)del p.F658del SLCO2B1_ENST00000454962.2_In_Frame_Del_p.F431del|SLCO2B1_ENST00000532236.1_In_Frame_Del_p.F542del|SLCO2B1_ENST00000341411.4_In_Frame_Del_p.F431del|SLCO2B1_ENST00000525650.1_In_Frame_Del_p.F514del|SLCO2B1_ENST00000428359.2_In_Frame_Del_p.F636del NM_007256.4 NP_009187.1 O94956 SO2B1_HUMAN solute carrier organic anion transporter family, member 2B1 658 sodium-independent organic anion transport integral to membrane sodium-independent organic anion transmembrane transporter activity breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 39 Ergoloid mesylate(DB01049) CGGCCTCCAGTTCTTCTTCAAAA 0.527 27 139 --- --- --- --- GAB2 9846 broad.mit.edu 37 11 77934490 77934490 + Frame_Shift_Del DEL G G - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:77934490delG ENST00000361507.4 - 6 1620 c.1535delC c.(1534-1536)ctfs p.P512fs GAB2_ENST00000340149.2_Frame_Shift_Del_p.P474fs NM_080491.2 NP_536739.1 Q9UQC2 GAB2_HUMAN GRB2-associated binding protein 2 512 osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation cytosol|plasma membrane phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity INTS4/GAB2(2) NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1) 24 all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.58e-23) GCGGTTGACAGGGGGTGGCTG 0.552 53 120 --- --- --- --- C11orf54 28970 broad.mit.edu 37 11 93486913 93486914 + Frame_Shift_Ins INS - - A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:93486913_93486914insA ENST00000528288.1 + 4 455_456 c.220_221insA c.(220-222)aaafs p.K74fs C11orf54_ENST00000331239.4_Frame_Shift_Ins_p.K74fs|C11orf54_ENST00000540113.1_Frame_Shift_Ins_p.K55fs|C11orf54_ENST00000528099.1_Frame_Shift_Ins_p.K74fs|C11orf54_ENST00000354421.3_Frame_Shift_Ins_p.K74fs NM_014039.2 NP_054758.2 Q9H0W9 CK054_HUMAN chromosome 11 open reading frame 54 74 nucleus hydrolase activity, acting on ester bonds|protein binding|zinc ion binding NS(1)|endometrium(1)|large_intestine(1)|lung(5) 8 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) TCTTGTAAACCAAAAAAAAGTA 0.356 10 48 --- --- --- --- CUL5 8065 broad.mit.edu 37 11 107965658 107965658 + Frame_Shift_Del DEL A A - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:107965658delA ENST00000393094.2 + 15 2303 c.1687delA c.(1687-1689)aafs p.K564fs NM_003478.3 NP_003469.2 Q93034 CUL5_HUMAN cullin 5 564 cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction cullin-RING ubiquitin ligase complex|cytosol calcium channel activity|receptor activity|ubiquitin protein ligase binding endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1) 23 all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217) AGAATTCTACAAAAAAAATCA 0.373 17 49 --- --- --- --- CD3G 917 broad.mit.edu 37 11 118220583 118220583 + Frame_Shift_Del DEL A A - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:118220583delA ENST00000532917.1 + 3 273 c.205delA c.(205-207)aafs p.K71fs CD3G_ENST00000392883.2_Frame_Shift_Del_p.K11fs|CD3G_ENST00000532903.1_3'UTR NM_000073.2 NP_000064.1 P09693 CD3G_HUMAN CD3g molecule, gamma (CD3-TCR complex) 71 Ig-like. establishment or maintenance of cell polarity|protein complex assembly|protein transport|regulation of apoptosis|T cell activation|T cell costimulation|T cell receptor signaling pathway integral to plasma membrane|T cell receptor complex protein heterodimerization activity|receptor signaling complex scaffold activity|T cell receptor binding|transmembrane receptor activity breast(2)|kidney(1)|large_intestine(2)|skin(1) 6 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.04e-05) AACTGAAGATAAAAAAAAATG 0.403 30 118 --- --- --- --- KMT2A 4297 broad.mit.edu 37 11 118369199 118369199 + Frame_Shift_Del DEL A A - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:118369199delA ENST00000534358.1 + 22 5940 c.5917delA c.(5917-5919)aafs p.K1974fs KMT2A_ENST00000389506.5_Frame_Shift_Del_p.K1971fs|KMT2A_ENST00000354520.4_Frame_Shift_Del_p.K1933fs NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A TCTGGATGATAAAAAAGTATA 0.418 91 241 --- --- --- --- BCL9L 283149 broad.mit.edu 37 11 118773010 118773010 + Frame_Shift_Del DEL C C - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:118773010delC ENST00000334801.3 - 6 2406 c.1442delG c.(1441-1443)gcfs p.G481fs BCL9L_ENST00000526143.1_5'UTR NM_182557.2 NP_872363.1 Q86UU0 BCL9L_HUMAN B-cell CLL/lymphoma 9-like 481 Necessary for interaction with CTNNB1 (By similarity).|Pro-rich. negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription coactivator activity NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 56 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.66e-05) CAGCGGGGGGCCCCCTAGGCT 0.647 66 190 --- --- --- --- CBL 867 broad.mit.edu 37 11 119149355 119149356 + In_Frame_Ins INS - - ATG TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:119149355_119149356insATG ENST00000264033.4 + 9 1739_1740 c.1363_1364insATG c.(1363-1365)tga>ATGtga p.454_455insM NM_005188.3 NP_005179.2 P22681 CBL_HUMAN Cbl proto-oncogene, E3 ubiquitin protein ligase 454 Asp/Glu-rich (acidic). epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis cytosol|nucleus calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding p.E366_K477del(1) breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 251 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784) CTCCCCAAATTATGATGATGAT 0.475 """T, Mis S, O""" MLL """AML, JMML, MDS""" Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies 23 86 --- --- --- --- NFRKB 4798 broad.mit.edu 37 11 129752378 129752378 + Frame_Shift_Del DEL G G - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:129752378delG ENST00000446488.3 - 9 1153 c.1050delC c.(1048-1050)ccfs p.P350fs NFRKB_ENST00000524746.1_Frame_Shift_Del_p.P350fs|NFRKB_ENST00000524794.1_Frame_Shift_Del_p.P375fs|NFRKB_ENST00000304521.5_Frame_Shift_Del_p.P350fs NM_001143835.1 NP_001137307.1 Q6P4R8 NFRKB_HUMAN nuclear factor related to kappaB binding protein 350 DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Ino80 complex DNA binding|protease binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1) 32 all_hematologic(175;0.0537) Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184) CCAGCGGAGAGGGGGCCTGTG 0.512 35 190 --- --- --- --- NCAPD3 23310 broad.mit.edu 37 11 134048586 134048586 + Frame_Shift_Del DEL G G - rs138442478 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr11:134048586delG ENST00000534548.2 - 22 2789 c.2725delC c.(2725-2727)agfs p.Q909fs NM_015261.2 NP_056076.1 P42695 CNDD3_HUMAN non-SMC condensin II complex, subunit D3 909 cell division|mitotic chromosome condensation nuclear centromeric heterochromatin|nuclear condensin complex methylated histone residue binding p.Q909fs*12(1) NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_hematologic(175;0.127) all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227) CCTCTGACCTGGGGGGGTGGC 0.522 8 118 --- --- --- --- LTBR 4055 broad.mit.edu 37 12 6497628 6497630 + In_Frame_Del DEL CTC CTC - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:6497628_6497630delCTC ENST00000228918.4 + 7 1058_1060 c.732_734delCTC c.(730-735)ttc>tt p.FS244del LTBR_ENST00000541102.1_Intron|LTBR_ENST00000539925.1_In_Frame_Del_p.FS225del|LTBR_ENST00000543190.1_3'UTR NM_002342.1 NP_002333.1 P36941 TNR3_HUMAN lymphotoxin beta receptor (TNFR superfamily, member 3) 244 apoptosis|cellular response to mechanical stimulus|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane protein binding|receptor activity breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2) 15 CCACCGTCTTCTCCTGCATCTGG 0.576 50 96 --- --- --- --- RECQL 5965 broad.mit.edu 37 12 21623985 21623986 + Frame_Shift_Ins INS - - TT TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:21623985_21623986insTT ENST00000444129.2 - 14 2182_2183 c.1714_1715insAA c.(1714-1716)aggfs p.R572fs RECQL_ENST00000421138.2_Frame_Shift_Ins_p.R572fs NM_002907.3|NM_032941.2 NP_002898.2|NP_116559.1 P46063 RECQ1_HUMAN RecQ protein-like (DNA helicase Q1-like) 572 DNA recombination|DNA repair|DNA replication nucleus ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 17 TTTAGGTCCTATTTTCAAATAC 0.366 Other identified genes with known or suspected DNA repair function 10 61 --- --- --- --- MRPS35 60488 broad.mit.edu 37 12 27908288 27908288 + Frame_Shift_Del DEL A A - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:27908288delA ENST00000081029.3 + 8 948 c.877delA c.(877-879)aafs p.K294fs MRPS35_ENST00000538315.1_3'UTR NM_021821.3 NP_068593.2 P82673 RT35_HUMAN mitochondrial ribosomal protein S35 294 DNA damage response, detection of DNA damage mitochondrial small ribosomal subunit breast(1)|endometrium(1)|kidney(1)|lung(2)|urinary_tract(1) 6 Lung SC(9;0.0873) TGAAGAGTACAAAAAGTCTGT 0.323 44 163 --- --- --- --- BICD1 636 broad.mit.edu 37 12 32487496 32487496 + Frame_Shift_Del DEL A A - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:32487496delA ENST00000548411.1 + 6 2328 c.2147delA c.(2146-2148)gafs p.E716fs BICD1_ENST00000281474.5_Frame_Shift_Del_p.E716fs NM_001003398.1 NP_001003398.1 Q96G01 BICD1_HUMAN bicaudal D homolog 1 (Drosophila) 716 Interacts with RAB6A. anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0201) TATGAAAATGAAAAAGCAATG 0.388 28 84 --- --- --- --- ALG10 84920 broad.mit.edu 37 12 34179308 34179308 + Frame_Shift_Del DEL T T - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:34179308delT ENST00000266483.2 + 3 1199 c.880delT c.(880-882)ttfs p.F295fs RP11-847H18.2_ENST00000501954.2_RNA|ALG10_ENST00000538927.1_Intron NM_032834.3 NP_116223.3 Q5BKT4 AG10A_HUMAN ALG10, alpha-1,2-glucosyltransferase 295 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 26 Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429) Lung NSC(34;0.204)|all_lung(34;0.235) ACTATTCTACTTTTTTTCATT 0.348 7 222 --- --- --- --- SLC2A13 114134 broad.mit.edu 37 12 40153972 40153972 + Frame_Shift_Del DEL T T - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:40153972delT ENST00000280871.4 - 10 1853 c.1803delA c.(1801-1803)aafs p.K601fs NM_052885.3 NP_443117.3 Q96QE2 MYCT_HUMAN solute carrier family 2 (facilitated glucose transporter), member 13 601 integral to membrane|plasma membrane myo-inositol:hydrogen symporter activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 29 Lung NSC(34;0.105)|all_lung(34;0.123) TTTCCTCTAATTTTTTGCCTT 0.403 HNSCC(50;0.14) 21 58 --- --- --- --- CNTN1 1272 broad.mit.edu 37 12 41365259 41365259 + Frame_Shift_Del DEL A A - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:41365259delA ENST00000547849.1 + 16 2147 c.1828delA c.(1828-1830)aafs p.K610fs CNTN1_ENST00000551295.2_Intron|CNTN1_ENST00000547702.1_Frame_Shift_Del_p.K610fs|CNTN1_ENST00000347616.1_Intron|CNTN1_ENST00000348761.2_Intron|CNTN1_ENST00000360099.3_Frame_Shift_Del_p.K610fs NM_001256064.1 NP_001242993.1 Q12860 CNTN1_HUMAN contactin 1 0 Fibronectin type-III 1. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 90 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) AGGTGGAGAGAAAAACATGGT 0.468 20 32 --- --- --- --- RP11-478B9.1 0 broad.mit.edu 37 12 45466507 45466508 + RNA INS - - A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:45466507_45466508insA ENST00000548424.1 + 0 448 GTTTCAAGGTTAAAAAAAAACC 0.381 5 11 --- --- --- --- KMT2D 8085 broad.mit.edu 37 12 49440430 49440431 + Frame_Shift_Ins INS - - G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:49440430_49440431insG ENST00000301067.7 - 15 4378_4379 c.4379_4380insC c.(4378-4380)cctfs p.P1460fs NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D CGGTGAGCAGTGGGGGGTCCAG 0.564 43 224 --- --- --- --- TUBA1A 7846 broad.mit.edu 37 12 49580268 49580268 + Frame_Shift_Del DEL G G - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:49580268delG ENST00000546918.1 - 2 438 c.352delC c.(352-354)tgfs p.L120fs TUBA1A_ENST00000295766.5_Intron|TUBA1A_ENST00000550767.1_Intron|TUBA1A_ENST00000301071.7_Intron Q71U36 TBA1A_HUMAN tubulin, alpha 1a 0 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization cytosol|microtubule GTP binding|GTPase activity|structural molecule activity stomach(1)|upper_aerodigestive_tract(1) 2 gggaggagcaggggggaggag 0.627 29 125 --- --- --- --- COX14 84987 broad.mit.edu 37 12 50513902 50513902 + Frame_Shift_Del DEL G G - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:50513902delG ENST00000550487.1 + 2 407 c.76delG c.(76-78)ggfs p.G27fs COX14_ENST00000548985.1_Frame_Shift_Del_p.G27fs|COX14_ENST00000550654.1_Frame_Shift_Del_p.G27fs|RP4-605O3.4_ENST00000552815.1_RNA|COX14_ENST00000317943.2_Frame_Shift_Del_p.G27fs NM_001257134.1|NM_032901.3 NP_001244063.1|NP_116290.1 Q96I36 CL062_HUMAN cytochrome c oxidase assembly homolog 14 (S. cerevisiae) 27 integral to membrane p.G26W(1) CACTGTGTATGGGGGGTACCT 0.522 45 94 --- --- --- --- NR4A1 3164 broad.mit.edu 37 12 52448248 52448249 + Frame_Shift_Ins INS - - C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:52448248_52448249insC ENST00000545748.1 + 3 1293_1294 c.298_299insC c.(298-300)cccfs p.P100fs NR4A1_ENST00000243050.1_Frame_Shift_Ins_p.P46fs|NR4A1_ENST00000550082.1_Frame_Shift_Ins_p.P59fs|NR4A1_ENST00000360284.3_Frame_Shift_Ins_p.P59fs|NR4A1_ENST00000394824.2_Frame_Shift_Ins_p.P46fs|NR4A1_ENST00000548232.1_Frame_Shift_Ins_p.P46fs|NR4A1_ENST00000394825.1_Frame_Shift_Ins_p.P46fs|NR4A1_ENST00000547206.1_3'UTR P22736 NR4A1_HUMAN nuclear receptor subfamily 4, group A, member 1 46 nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor steroid hormone receptor activity|zinc ion binding endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2) 16 BRCA - Breast invasive adenocarcinoma(357;0.0967) AGCCCCCGCTGCCCCCACTGCC 0.653 29 128 --- --- --- --- KRT82 3888 broad.mit.edu 37 12 52799891 52799891 + Frame_Shift_Del DEL C C - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:52799891delC ENST00000257974.2 - 1 248 c.171delG c.(169-171)ctfs p.L57fs NM_033033.3 NP_149022.3 Q9NSB4 KRT82_HUMAN keratin 82 57 Head. keratin filament protein binding|structural constituent of epidermis endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 29 BRCA - Breast invasive adenocarcinoma(357;0.193) CCACGTTGCACAGGCTCCGTG 0.687 13 40 --- --- --- --- TENC1 23371 broad.mit.edu 37 12 53452903 53452903 + Frame_Shift_Del DEL C C - rs142183380 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:53452903delC ENST00000314250.6 + 18 1768 c.1478delC c.(1477-1479)acfs p.T493fs TENC1_ENST00000546602.1_Frame_Shift_Del_p.T493fs|TENC1_ENST00000379902.3_Frame_Shift_Del_p.T369fs|TENC1_ENST00000314276.3_Frame_Shift_Del_p.T503fs|TENC1_ENST00000451358.1_Frame_Shift_Del_p.T493fs|TENC1_ENST00000552570.1_Frame_Shift_Del_p.T493fs|TENC1_ENST00000549700.1_Frame_Shift_Del_p.T493fs NM_170754.2 NP_736610.2 Q63HR2 TENC1_HUMAN tensin like C1 domain containing phosphatase (tensin 2) 493 Pro-rich. intracellular signal transduction|negative regulation of cell proliferation focal adhesion metal ion binding|phosphoprotein phosphatase activity|protein binding p.A496fs*31(1) central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3) 34 CCCCGGCAGACCCCCCCGGCA 0.677 24 115 --- --- --- --- OR6C65 403282 broad.mit.edu 37 12 55795221 55795222 + Frame_Shift_Ins INS - - A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:55795221_55795222insA ENST00000379665.2 + 1 1008_1009 c.909_910insA c.(907-912)acaaaafs p.TK303fs NM_001005518.1 NP_001005518.1 A6NJZ3 O6C65_HUMAN olfactory receptor, family 6, subfamily C, member 65 303 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(3)|lung(9) 15 GGGAATTCACCAAAAAAATATT 0.351 22 44 --- --- --- --- SMARCC2 6601 broad.mit.edu 37 12 56563405 56563405 + Frame_Shift_Del DEL C C - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:56563405delC ENST00000394023.3 - 25 2728 c.2623delG c.(2623-2625)aafs p.E875fs SMARCC2_ENST00000347471.4_Frame_Shift_Del_p.E875fs|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000267064.4_Frame_Shift_Del_p.E844fs|SMARCC2_ENST00000550164.1_Frame_Shift_Del_p.E875fs NM_001130420.1 NP_001123892.1 Q8TAQ2 SMRC2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 844 chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex DNA binding|protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(18;0.123) gtcttcctttccccctcagac 0.617 16 53 --- --- --- --- RP11-74M13.4 0 broad.mit.edu 37 12 57255300 57255300 + RNA DEL A A - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:57255300delA ENST00000557452.1 + 0 720 TGGAAGAAGGAAaaaaaaata 0.423 24 35 --- --- --- --- MGAT4C 25834 broad.mit.edu 37 12 86374168 86374168 + Frame_Shift_Del DEL T T - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:86374168delT ENST00000604798.1 - 8 1540 c.336delA c.(334-336)aafs p.K112fs MGAT4C_ENST00000393205.2_Frame_Shift_Del_p.K141fs|MGAT4C_ENST00000548651.1_Frame_Shift_Del_p.K112fs|MGAT4C_ENST00000552435.2_Intron|MGAT4C_ENST00000549405.2_Frame_Shift_Del_p.K112fs|MGAT4C_ENST00000332156.1_Frame_Shift_Del_p.K112fs|MGAT4C_ENST00000552808.2_Frame_Shift_Del_p.K112fs Q9UBM8 MGT4C_HUMAN mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) 112 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 AATAGTTTCCTTTTTTTCGCT 0.328 10 57 --- --- --- --- CHPT1 56994 broad.mit.edu 37 12 102108338 102108338 + Frame_Shift_Del DEL T T - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:102108338delT ENST00000549872.1 + 3 668 c.478delT c.(478-480)ttfs p.F162fs CHPT1_ENST00000550385.1_3'UTR|CHPT1_ENST00000229266.3_Frame_Shift_Del_p.F162fs Q8WUD6 CHPT1_HUMAN choline phosphotransferase 1 162 F -> S (in dbSNP:rs3205421). platelet activating factor biosynthetic process|regulation of cell growth Golgi membrane|integral to membrane|microsome diacylglycerol binding|diacylglycerol cholinephosphotransferase activity|metal ion binding kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 TCCTGACTGGTTTTTTTTCTG 0.343 39 60 --- --- --- --- CCDC63 160762 broad.mit.edu 37 12 111311659 111311659 + Frame_Shift_Del DEL A A - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:111311659delA ENST00000308208.5 + 5 625 c.383delA c.(382-384)gafs p.E128fs CCDC63_ENST00000552694.1_Frame_Shift_Del_p.E49fs|CCDC63_ENST00000550317.1_3'UTR|CCDC63_ENST00000545036.1_Frame_Shift_Del_p.E88fs NM_152591.1 NP_689804.1 Q8NA47 CCD63_HUMAN coiled-coil domain containing 63 128 NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1) 39 CTTCAGATGGAAAAAAAAATC 0.413 43 79 --- --- --- --- KSR2 283455 broad.mit.edu 37 12 117977605 117977605 + Frame_Shift_Del DEL G G - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:117977605delG ENST00000425217.1 - 10 1573 c.1519delC c.(1519-1521)tcfs p.L507fs KSR2_ENST00000339824.5_Frame_Shift_Del_p.L536fs|KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000302438.5_Frame_Shift_Del_p.L233fs NM_173598.4 NP_775869.3 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 536 intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CTAGGAGGGAGGGGGGGTGCT 0.632 70 46 --- --- --- --- HPD 3242 broad.mit.edu 37 12 122277894 122277895 + Frame_Shift_Ins INS - - T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:122277894_122277895insT ENST00000543163.1 - 14 1342_1343 c.897_898insA c.(895-900)aacggtfs p.NG299fs HPD_ENST00000289004.4_Frame_Shift_Ins_p.NG338fs NM_001171993.1 NP_001165464.1 P32754 HPPD_HUMAN 4-hydroxyphenylpyruvate dioxygenase 338 L-phenylalanine catabolic process|tyrosine catabolic process cytosol 4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1) 18 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225) Nitisinone(DB00348) TCCTGCACCGGTTTGGTGAAGA 0.629 25 164 --- --- --- --- ATP6V0A2 23545 broad.mit.edu 37 12 124229156 124229156 + Frame_Shift_Del DEL T T - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:124229156delT ENST00000330342.3 + 12 1587 c.1339delT c.(1339-1341)ttfs p.F448fs NM_012463.3 NP_036595.2 Q9Y487 VPP2_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a2 448 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain hydrogen ion transmembrane transporter activity|protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775) CATGAGGATGTTTTTTAATGG 0.532 25 102 --- --- --- --- DNAH10 196385 broad.mit.edu 37 12 124265628 124265628 + Splice_Site DEL T T - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:124265628delT ENST00000409039.3 + 6 465 c.438_splice c.e6-1 p.V147_splice NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 147 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) GCATTTCAGGTTTTTTTGCCA 0.368 23 57 --- --- --- --- DNAH10 196385 broad.mit.edu 37 12 124274577 124274577 + Frame_Shift_Del DEL C C - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:124274577delC ENST00000409039.3 + 11 1566 c.1541delC c.(1540-1542)acfs p.T514fs NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 514 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) GGCCTAGTCACCCCCATGGAA 0.473 59 305 --- --- --- --- DNAH10 196385 broad.mit.edu 37 12 124415103 124415103 + Frame_Shift_Del DEL A A - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:124415103delA ENST00000409039.3 + 72 12438 c.12413delA c.(12412-12414)gafs p.E4138fs CCDC92_ENST00000544798.1_Intron|DNAH10OS_ENST00000514254.2_Intron NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 4138 microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) GTTGGTGATGAAAAGGAGAAA 0.428 7 44 --- --- --- --- NCOR2 9612 broad.mit.edu 37 12 124832801 124832801 + Frame_Shift_Del DEL G G - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:124832801delG ENST00000356219.3 - 30 4080 c.3925delC c.(3925-3927)atfs p.H1309fs NCOR2_ENST00000429285.2_Frame_Shift_Del_p.H1292fs|NCOR2_ENST00000405201.1_Frame_Shift_Del_p.H1302fs|NCOR2_ENST00000404621.1_Frame_Shift_Del_p.H1292fs|NCOR2_ENST00000404121.2_Frame_Shift_Del_p.H863fs|NCOR2_ENST00000397355.1_Frame_Shift_Del_p.H1293fs NM_006312.5 NP_006303.4 Q9Y618 NCOR2_HUMAN nuclear receptor corepressor 2 1310 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) GCCGTCTCATGGGGGGGTCCT 0.632 OREG0022238 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 161 --- --- --- --- POLE 5426 broad.mit.edu 37 12 133245023 133245024 + Frame_Shift_Ins INS - - G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr12:133245023_133245024insG ENST00000320574.5 - 19 2134_2135 c.2091_2092insC c.(2089-2094)cctgttfs p.V698fs POLE_ENST00000535270.1_Frame_Shift_Ins_p.V671fs NM_006231.2 NP_006222.2 Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit 698 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 89 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) TCTGGGAACAAGGGGGGGAACT 0.599 DNA polymerases (catalytic subunits) 119 222 --- --- --- --- BRCA2 675 broad.mit.edu 37 13 32907421 32907421 + Frame_Shift_Del DEL A A - rs80359307 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr13:32907421delA ENST00000544455.1 + 10 2033 c.1806delA c.(1804-1806)ggfs p.G602fs BRCA2_ENST00000380152.3_Frame_Shift_Del_p.G602fs NM_000059.3 NP_000050.2 P51587 BRCA2_HUMAN breast cancer 2, early onset 602 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) CTTATAAAGGAAAAAAAATAC 0.303 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 12 46 --- --- --- --- RFC3 5983 broad.mit.edu 37 13 34399981 34399982 + Frame_Shift_Ins INS - - A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr13:34399981_34399982insA ENST00000380071.3 + 4 479_480 c.349_350insA c.(349-351)atcfs p.I117fs RFC3_ENST00000434425.1_Frame_Shift_Ins_p.I117fs NM_002915.3 NP_002906.1 P40938 RFC3_HUMAN replication factor C (activator 1) 3, 38kDa 117 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|response to organophosphorus|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|protein binding lung(2)|skin(1) 3 Hepatocellular(188;0.0191)|Lung SC(185;0.0548) all cancers(112;5.09e-06)|Epithelial(112;6.52e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00107)|OV - Ovarian serous cystadenocarcinoma(117;0.0285)|GBM - Glioblastoma multiforme(144;0.123) AACAGTGGCACAATCACAACAA 0.356 19 63 --- --- --- --- NBEA 26960 broad.mit.edu 37 13 35672513 35672513 + Frame_Shift_Del DEL T T - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr13:35672513delT ENST00000400445.3 + 11 2185 c.1651delT c.(1651-1653)ttfs p.F551fs NBEA_ENST00000379939.2_Frame_Shift_Del_p.F551fs|NBEA_ENST00000310336.4_Frame_Shift_Del_p.F551fs|NBEA_ENST00000540320.1_Frame_Shift_Del_p.F551fs NM_015678.4 NP_056493.3 Q8NFP9 NBEA_HUMAN neurobeachin 551 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) TGGAAAAGGCTTTTTAGTCAT 0.378 4 5 --- --- --- --- DZIP1 22873 broad.mit.edu 37 13 96293851 96293853 + In_Frame_Del DEL AGA AGA - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr13:96293851_96293853delAGA ENST00000347108.3 - 3 725_727 c.293_295delTCT c.(292-297)tgc>t p.FC98del DZIP1_ENST00000361156.3_In_Frame_Del_p.FC98del|DZIP1_ENST00000376829.2_In_Frame_Del_p.FC98del|DZIP1_ENST00000466027.1_5'UTR|DZIP1_ENST00000361396.2_In_Frame_Del_p.FC98del Q86YF9 DZIP1_HUMAN DAZ interacting zinc finger protein 1 98 germ cell development|multicellular organismal development|spermatogenesis cytoplasm|nucleus nucleic acid binding|protein binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1) 38 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.141) TCCAGCTTGCAGAAGGTGATGTT 0.616 47 162 --- --- --- --- LOC642426 642426 broad.mit.edu 37 14 19408019 19408019 + RNA DEL A A - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:19408019delA ENST00000548050.1 - 0 279 NR_046104.1 CTGTGGAGCCAAAAAAAAAAT 0.393 3 2 --- --- --- --- OR4Q3 441669 broad.mit.edu 37 14 20215772 20215772 + Frame_Shift_Del DEL T T - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:20215772delT ENST00000331723.1 + 1 186 c.186delT c.(184-186)tafs p.Y62fs NM_172194.1 NP_751944.1 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, member 3 62 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CTATGTATTATTTTTTAGGTC 0.408 66 373 --- --- --- --- OR4K5 79317 broad.mit.edu 37 14 20389265 20389266 + Frame_Shift_Ins INS - - T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:20389265_20389266insT ENST00000315915.4 + 1 525_526 c.500_501insT c.(499-501)cttfs p.L167fs NM_001005483.1 NP_001005483.1 Q8NGD3 OR4K5_HUMAN olfactory receptor, family 4, subfamily K, member 5 167 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GTGAACCTGCCTTTTTGTGGAC 0.441 7 768 --- --- --- --- TEP1 7011 broad.mit.edu 37 14 20858878 20858879 + Frame_Shift_Ins INS - - A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:20858878_20858879insA ENST00000262715.5 - 15 2335_2336 c.2295_2296insT c.(2293-2298)ttggaafs p.LE765fs TEP1_ENST00000556935.1_Frame_Shift_Ins_p.LE657fs NM_007110.4 NP_009041.2 Q99973 TEP1_HUMAN telomerase-associated protein 1 765 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) AGGTATTTCCCAAAAGTATTCA 0.455 11 76 --- --- --- --- TEP1 7011 broad.mit.edu 37 14 20876232 20876233 + Frame_Shift_Del DEL AC AC - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:20876232_20876233delAC ENST00000262715.5 - 2 406_407 c.366_367delGT c.(364-369)gtctfs p.VS122fs TEP1_ENST00000556935.1_Frame_Shift_Del_p.VS122fs NM_007110.4 NP_009041.2 Q99973 TEP1_HUMAN telomerase-associated protein 1 122 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) GGGCTGGCAGACACAGTGCTCT 0.525 58 150 --- --- --- --- ARHGEF40 55701 broad.mit.edu 37 14 21546604 21546604 + Frame_Shift_Del DEL G G - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:21546604delG ENST00000298694.4 + 10 2330 c.2203delG c.(2203-2205)ggfs p.G736fs ARHGEF40_ENST00000298693.3_Frame_Shift_Del_p.G736fs Q8TER5 ARH40_HUMAN Rho guanine nucleotide exchange factor (GEF) 40 736 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2) 9 GCAGAGGGATGGGGGGGCCAT 0.627 18 142 --- --- --- --- C14orf93 60686 broad.mit.edu 37 14 23457145 23457145 + Frame_Shift_Del DEL T T - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:23457145delT ENST00000299088.6 - 6 1593 c.1164delA c.(1162-1164)aafs p.K388fs RP11-298I3.4_ENST00000555294.1_RNA|C14orf93_ENST00000406429.2_Frame_Shift_Del_p.K388fs|C14orf93_ENST00000397377.1_Frame_Shift_Del_p.K208fs|RP11-298I3.4_ENST00000556503.1_RNA|C14orf93_ENST00000397379.3_Frame_Shift_Del_p.K388fs|RP11-298I3.4_ENST00000557615.1_RNA|C14orf93_ENST00000397382.4_Frame_Shift_Del_p.K388fs|C14orf93_ENST00000341470.4_Frame_Shift_Del_p.K388fs NM_001130708.1|NM_021944.2 NP_001124180.1|NP_068763.2 Q9H972 CN093_HUMAN chromosome 14 open reading frame 93 388 extracellular region kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1) 17 all_cancers(95;3.3e-05) GBM - Glioblastoma multiforme(265;0.0127) TCTTCTCCTCTTTTTCCTTCA 0.507 47 114 --- --- --- --- CDH24 64403 broad.mit.edu 37 14 23523833 23523835 + In_Frame_Del DEL CTC CTC - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:23523833_23523835delCTC ENST00000397359.3 - 5 923_925 c.664_666delGAG c.(664-666)del p.E222del CDH24_ENST00000554034.1_In_Frame_Del_p.E222del|CDH24_ENST00000487137.2_In_Frame_Del_p.E222del|CDH24_ENST00000267383.5_In_Frame_Del_p.E222del NM_022478.3 NP_071923.2 Q86UP0 CAD24_HUMAN cadherin 24, type 2 222 Cadherin 2. adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 26 all_cancers(95;3.3e-05) GBM - Glioblastoma multiforme(265;0.00654) CCACCAAGAACTCCTCCTGTGTC 0.626 OREG0022594 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 44 98 --- --- --- --- REC8 9985 broad.mit.edu 37 14 24648626 24648628 + In_Frame_Del DEL GAG GAG - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:24648626_24648628delGAG ENST00000311457.3 + 17 1872_1874 c.1273_1275delGAG c.(1273-1275)del p.E426del REC8_ENST00000559919.1_In_Frame_Del_p.E426del O95072 REC8_HUMAN REC8 meiotic recombination protein 427 Glu-rich. mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion nucleoplasm breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 15 GBM - Glioblastoma multiforme(265;0.00839) GGCAGCTGAAGAGGAGAAGTCCC 0.616 59 185 --- --- --- --- NEMF 9147 broad.mit.edu 37 14 50272836 50272836 + Frame_Shift_Del DEL G G - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:50272836delG ENST00000298310.5 - 19 2209 c.1760delC c.(1759-1761)cafs p.P587fs NEMF_ENST00000546046.1_Frame_Shift_Del_p.P566fs|NEMF_ENST00000545773.1_Frame_Shift_Del_p.P545fs|NEMF_ENST00000556925.1_5'UTR O60524 NEMF_HUMAN nuclear export mediator factor 587 cytoplasm|nucleus breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 36 CAAGGTCCGTGGGGGGATGGG 0.468 10 40 --- --- --- --- FBXO34 55030 broad.mit.edu 37 14 55817580 55817580 + Frame_Shift_Del DEL A A - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:55817580delA ENST00000313833.4 + 2 717 c.472delA c.(472-474)aafs p.K159fs FBXO34_ENST00000440021.1_Frame_Shift_Del_p.K159fs NM_017943.3 NP_060413.2 Q9NWN3 FBX34_HUMAN F-box protein 34 159 breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3) 22 AGGGGATCTTAAAAAAGCCAA 0.438 27 50 --- --- --- --- MTHFD1 4522 broad.mit.edu 37 14 64916254 64916254 + Frame_Shift_Del DEL G G - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:64916254delG ENST00000555709.1 + 24 2758 c.2371delG c.(2371-2373)ggfs p.G792fs MTHFD1_ENST00000556284.1_3'UTR|ZBTB25_ENST00000555424.1_3'UTR|ZBTB25_ENST00000555220.1_3'UTR|MTHFD1_ENST00000216605.7_Frame_Shift_Del_p.G848fs|MTHFD1_ENST00000545908.1_Frame_Shift_Del_p.G848fs NM_005956.3 NP_005947.3 P11586 C1TC_HUMAN methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase 792 Formyltetrahydrofolate synthetase. folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process cytosol|mitochondrion ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2) 30 OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488) NADH(DB00157)|Tetrahydrofolic acid(DB00116) CTGGGCAGAAGGGGGCAAGGG 0.567 33 110 --- --- --- --- ADAM21 8747 broad.mit.edu 37 14 70925553 70925553 + Frame_Shift_Del DEL G G - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:70925553delG ENST00000603540.1 + 2 1595 c.1337delG c.(1336-1338)ttfs p.C446fs RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Frame_Shift_Del_p.C446fs NM_003813.3 NP_003804.2 Q9UKJ8 ADA21_HUMAN ADAM metallopeptidase domain 21 446 Disintegrin. proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 31 all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) GGGGCTGCCTGTGCTTTTGGG 0.498 27 86 --- --- --- --- PAPLN 89932 broad.mit.edu 37 14 73731295 73731295 + Splice_Site DEL G G - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:73731295delG ENST00000427855.1 + 22 3088 c.e22-1 PAPLN_ENST00000555445.1_Splice_Site|PAPLN_ENST00000340738.5_Splice_Site|PAPLN_ENST00000381166.3_Splice_Site|PAPLN_ENST00000554301.1_Splice_Site O95428 PPN_HUMAN papilin, proteoglycan-like sulfated glycoprotein proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3) 42 BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468) CCTCATGACAGGGGGTGACAT 0.627 74 181 --- --- --- --- NUMB 8650 broad.mit.edu 37 14 73759555 73759558 + Frame_Shift_Del DEL TCTC TCTC - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:73759555_73759558delTCTC ENST00000554546.1 - 7 657_660 c.301_304delGAGA c.(301-306)aafs p.EK101fs NUMB_ENST00000454166.4_Frame_Shift_Del_p.EK112fs|NUMB_ENST00000359560.3_Frame_Shift_Del_p.EK101fs|NUMB_ENST00000559312.1_Frame_Shift_Del_p.EK112fs|NUMB_ENST00000556772.1_5'UTR|NUMB_ENST00000555238.1_Frame_Shift_Del_p.EK112fs|NUMB_ENST00000555394.1_Frame_Shift_Del_p.EK112fs|NUMB_ENST00000355058.3_Frame_Shift_Del_p.EK112fs|NUMB_ENST00000356296.4_Frame_Shift_Del_p.EK112fs|NUMB_ENST00000560335.1_Frame_Shift_Del_p.EK112fs|NUMB_ENST00000557597.1_Frame_Shift_Del_p.EK101fs|NUMB_ENST00000554521.2_Frame_Shift_Del_p.EK101fs|NUMB_ENST00000544991.3_Frame_Shift_Del_p.EK112fs|NUMB_ENST00000535282.1_Frame_Shift_Del_p.EK101fs|NUMB_ENST00000555738.2_Frame_Shift_Del_p.EK101fs NM_001005745.1 NP_001005745.1 P49757 NUMB_HUMAN numb homolog (Drosophila) 112 PID. axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis integral to plasma membrane breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1) 28 BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161) AAAGAAACTTTCTCTATCGTCTGG 0.441 29 76 --- --- --- --- CLMN 79789 broad.mit.edu 37 14 95662949 95662949 + Frame_Shift_Del DEL T T - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:95662949delT ENST00000298912.4 - 10 2707 c.2594delA c.(2593-2595)agfs p.K865fs NM_024734.3 NP_079010.2 Q96JQ2 CLMN_HUMAN calmin (calponin-like, transmembrane) 865 integral to membrane actin binding p.K865fs*10(1) central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3) 44 Epithelial(152;0.193) CCTTTTTTCCTTTTTTTTACT 0.408 24 44 --- --- --- --- BCL11B 64919 broad.mit.edu 37 14 99642353 99642353 + Frame_Shift_Del DEL C C - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:99642353delC ENST00000345514.2 - 3 873 c.607delG c.(607-609)tgfs p.V203fs BCL11B_ENST00000443726.2_Frame_Shift_Del_p.V80fs|BCL11B_ENST00000357195.3_Frame_Shift_Del_p.V274fs NM_022898.1 NP_075049.1 Q9C0K0 BC11B_HUMAN B-cell CLL/lymphoma 11B (zinc finger protein) 274 nucleus zinc ion binding NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2) 34 Melanoma(154;0.0866)|all_epithelial(191;0.241) COAD - Colon adenocarcinoma(157;0.103) GACTGCGCCACGGCCTCCGGC 0.716 T TLX3 T-ALL 7 15 --- --- --- --- IGHA2 3494 broad.mit.edu 37 14 106054633 106054633 + RNA DEL G G - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:106054633delG ENST00000390539.2 - 0 99 AGTGGCTCCTGGGGGAAGAAG 0.637 29 94 --- --- --- --- IGHV3-53 28420 broad.mit.edu 37 14 107048915 107048915 + RNA DEL C C - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr14:107048915delC ENST00000390627.2 - 0 325 gtctcagggaccccccaggct 0.587 7 133 --- --- --- --- RTF1 23168 broad.mit.edu 37 15 41750018 41750019 + Frame_Shift_Del DEL AG AG - rs28645240 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:41750018_41750019delAG ENST00000389629.4 + 4 618_619 c.606_607delAG c.(604-609)aaagfs p.KE202fs NM_015138.4 NP_055953.3 Q92541 RTF1_HUMAN Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) 202 Glu-rich. histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent nucleoplasm protein binding|single-stranded DNA binding central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1) 18 all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143) OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119) TGACAGAGAAAGAGAGAGAGCA 0.515 22 136 --- --- --- --- EIF3J 8669 broad.mit.edu 37 15 44843099 44843099 + Frame_Shift_Del DEL A A - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:44843099delA ENST00000261868.5 + 3 311 c.173delA c.(172-174)gafs p.E58fs EIF3J_ENST00000424492.3_Intron|EIF3J_ENST00000535391.1_Frame_Shift_Del_p.E58fs NM_003758.2 NP_003749.2 O75822 EIF3J_HUMAN eukaryotic translation initiation factor 3, subunit J 58 Sufficient for interaction with EIF3B. cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity p.K60fs*36(1) endometrium(1)|large_intestine(5)|liver(2)|skin(1) 9 all_cancers(109;2.81e-14)|all_epithelial(112;2.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122) all cancers(107;3.13e-20)|GBM - Glioblastoma multiforme(94;9.81e-07)|COAD - Colon adenocarcinoma(120;0.0754)|Colorectal(105;0.0758) GATGATGATGAAAAAAAAGAG 0.358 16 98 --- --- --- --- PRTG 283659 broad.mit.edu 37 15 55912892 55912892 + Frame_Shift_Del DEL A A - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:55912892delA ENST00000389286.4 - 19 3214 c.3167delT c.(3166-3168)tcfs p.F1056fs NM_173814.4 NP_776175.2 Q2VWP7 PRTG_HUMAN protogenin 1056 multicellular organismal development integral to membrane breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 41 all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135) TGAGTCTTGGAAAAAAAACCA 0.318 15 36 --- --- --- --- RNF111 54778 broad.mit.edu 37 15 59376343 59376343 + Frame_Shift_Del DEL C C - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:59376343delC ENST00000348370.4 + 9 2746 c.2313delC c.(2311-2313)cgfs p.R771fs RNF111_ENST00000434298.1_Frame_Shift_Del_p.R780fs|RNF111_ENST00000559209.1_Frame_Shift_Del_p.R780fs|RNF111_ENST00000557998.1_Frame_Shift_Del_p.R771fs|RNF111_ENST00000561186.1_Frame_Shift_Del_p.R780fs NM_001270528.1|NM_001270529.1|NM_017610.7 NP_001257457.1|NP_001257458.1|NP_060080.6 Q6ZNA4 RN111_HUMAN ring finger protein 111 771 Pro-rich. multicellular organismal development|positive regulation of transcription, DNA-dependent cytoplasm|nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all cancers(107;0.194) CACATGAACGCCCCCCACCCC 0.443 16 57 --- --- --- --- TM6SF1 53346 broad.mit.edu 37 15 83776522 83776525 + Splice_Site DEL TGAG TGAG - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:83776522_83776525delTGAG ENST00000322019.9 + 1 364_366 c.92_splice c.e1+1 p.Q30_splice TM6SF1_ENST00000379386.4_Splice_Site_p.Q30_splice|TM6SF1_ENST00000565774.1_Splice_Site_p.Q30_splice|TM6SF1_ENST00000379390.6_Splice_Site_p.Q30_splice|TM6SF1_ENST00000564988.1_3'UTR Q9BZW5 TM6S1_HUMAN transmembrane 6 superfamily member 1 30 integral to membrane endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 15 CGGCCCAGCATGAGTGAGTGAgcc 0.721 7 33 --- --- --- --- TICRR 90381 broad.mit.edu 37 15 90168411 90168411 + Frame_Shift_Del DEL C C - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:90168411delC ENST00000268138.7 + 20 4975 c.4870delC c.(4870-4872)ccfs p.P1625fs KIF7_ENST00000558928.1_Intron|TICRR_ENST00000560985.1_Frame_Shift_Del_p.P1624fs TOPBP1-interacting checkpoint and replication regulator CTATGTGTCACCCCCCTGCCC 0.627 13 60 --- --- --- --- KIF7 374654 broad.mit.edu 37 15 90190140 90190140 + Frame_Shift_Del DEL C C - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:90190140delC ENST00000394412.3 - 7 1785 c.1709delG c.(1708-1710)gtfs p.G570fs NM_198525.2 NP_940927.2 Q2M1P5 KIF7_HUMAN kinesin family member 7 570 microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway cilium ATP binding|microtubule motor activity|protein binding central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1) 25 Lung NSC(78;0.0237)|all_lung(78;0.0478) BRCA - Breast invasive adenocarcinoma(143;0.128) GGCGTGGGCACCCCCCAGGGG 0.687 OREG0023460 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 67 --- --- --- --- MESP2 145873 broad.mit.edu 37 15 90320301 90320301 + Frame_Shift_Del DEL G G - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr15:90320301delG ENST00000341735.3 + 1 713 c.713delG c.(712-714)agfs p.R238fs MESP2_ENST00000558723.1_Intron|MESP2_ENST00000560219.1_Intron NM_001039958.1 NP_001035047.1 Q0VG99 MESP2_HUMAN mesoderm posterior 2 homolog (mouse) 238 Notch signaling pathway nucleus DNA binding kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514) CGCCTGGGGAGGGGGGTCCAC 0.716 16 25 --- --- --- --- MSLN 10232 broad.mit.edu 37 16 815293 815293 + Frame_Shift_Del DEL C C - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:815293delC ENST00000566549.1 + 8 1111 c.694delC c.(694-696)ccfs p.P233fs MSLN_ENST00000545450.2_Frame_Shift_Del_p.P233fs|MSLN_ENST00000382862.3_Frame_Shift_Del_p.P233fs|MSLN_ENST00000563941.1_Frame_Shift_Del_p.P233fs Q13421 MSLN_HUMAN mesothelin 233 cell adhesion anchored to membrane|extracellular region|Golgi apparatus|plasma membrane breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3) 20 Hepatocellular(780;0.00335) GGGCGGGGGACCCCCCTACGG 0.687 8 16 --- --- --- --- RPUSD1 113000 broad.mit.edu 37 16 836088 836088 + Frame_Shift_Del DEL G G - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:836088delG ENST00000561734.1 - 5 1044 c.801delC c.(799-801)ccfs p.P267fs RPUSD1_ENST00000007264.2_Frame_Shift_Del_p.P267fs|RPUSD1_ENST00000567114.1_Frame_Shift_Del_p.P138fs|RPUSD1_ENST00000565809.1_3'UTR Q9UJJ7 RUSD1_HUMAN RNA pseudouridylate synthase domain containing 1 267 Pro-rich. pseudouridine synthesis pseudouridine synthase activity|RNA binding endometrium(3)|lung(2)|skin(2) 7 Hepatocellular(780;0.00335) TGCCTGGCCTGGGGCCCCTAT 0.731 21 40 --- --- --- --- PKD1 5310 broad.mit.edu 37 16 2140883 2140886 + Splice_Site DEL ACCT ACCT - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:2140883_2140886delACCT ENST00000262304.4 - 43 12210_12212 c.12003_splice c.e43+1 p.I4001_splice PKD1_ENST00000423118.1_Splice_Site_p.I4000_splice NM_001009944.2 NP_001009944.2 P98161 PKD1_HUMAN polycystic kidney disease 1 (autosomal dominant) 4001 calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 CCCAGCCCTCACCTTGACCAAAAG 0.711 10 32 --- --- --- --- C16orf59 80178 broad.mit.edu 37 16 2510684 2510684 + Frame_Shift_Del DEL C C - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:2510684delC ENST00000569496.1 + 3 245 c.186delC c.(184-186)gafs p.D62fs C16orf59_ENST00000483320.1_5'UTR|C16orf59_ENST00000361837.4_Frame_Shift_Del_p.D62fs|C16orf59_ENST00000563531.1_Frame_Shift_Del_p.D62fs Q7L2K0 CP059_HUMAN chromosome 16 open reading frame 59 62 lung(1)|skin(1)|urinary_tract(1) 3 Ovarian(90;0.17) ATGGAGAGGACCCCCTTCCAG 0.642 13 49 --- --- --- --- CLDN6 9074 broad.mit.edu 37 16 3065456 3065456 + Frame_Shift_Del DEL C C - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:3065456delC ENST00000396925.1 - 3 995 c.567delG c.(565-567)ggfs p.G189fs CLDN6_ENST00000572154.1_Intron|CLDN6_ENST00000328796.4_Frame_Shift_Del_p.G189fs P56747 CLD6_HUMAN claudin 6 189 calcium-independent cell-cell adhesion integral to membrane|tight junction identical protein binding|structural molecule activity kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 10 GGCCCTGGGACCCCCCCGAGG 0.642 23 68 --- --- --- --- HCFC1R1 54985 broad.mit.edu 37 16 3073266 3073266 + Frame_Shift_Del DEL G G - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:3073266delG ENST00000248089.3 - 3 553 c.249delC c.(247-249)ccfs p.P83fs HCFC1R1_ENST00000574151.1_Frame_Shift_Del_p.P64fs|HCFC1R1_ENST00000354679.3_Frame_Shift_Del_p.P81fs|HCFC1R1_ENST00000574980.1_Frame_Shift_Del_p.P83fs|HCFC1R1_ENST00000396916.1_Frame_Shift_Del_p.P83fs|HCFC1R1_ENST00000572355.1_Frame_Shift_Del_p.P43fs NM_017885.2 NP_060355.1 Q9NWW0 HPIP_HUMAN host cell factor C1 regulator 1 (XPO1 dependent) 83 cytoplasm|nucleus p.M65fs*1(1) breast(1)|large_intestine(1)|upper_aerodigestive_tract(1) 3 AGAAGGTCATGGGGGGGCTGC 0.617 28 95 --- --- --- --- CREBBP 1387 broad.mit.edu 37 16 3790495 3790496 + Frame_Shift_Ins INS - - A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:3790495_3790496insA ENST00000262367.5 - 24 4846_4847 c.4037_4038insT c.(4036-4038)tcgfs p.S1346fs CREBBP_ENST00000382070.3_Frame_Shift_Ins_p.S1308fs NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 1346 Cys/His-rich. cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) TCTGGCGCCGCAAAAATTTGTT 0.569 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 23 73 --- --- --- --- CREBBP 1387 broad.mit.edu 37 16 3820641 3820641 + Frame_Shift_Del DEL G G - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:3820641delG ENST00000262367.5 - 14 3619 c.2810delC c.(2809-2811)cgfs p.P937fs CREBBP_ENST00000382070.3_Frame_Shift_Del_p.P899fs NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 937 cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) AGCCACAGACGGGGGCTGAAC 0.647 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 91 296 --- --- --- --- CREBBP 1387 broad.mit.edu 37 16 3830807 3830809 + In_Frame_Del DEL AGG AGG - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:3830807_3830809delAGG ENST00000262367.5 - 8 2556_2558 c.1747_1749delCCT c.(1747-1749)del p.P583del CREBBP_ENST00000382070.3_In_Frame_Del_p.P545del NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 583 cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) CGGTGCTAGAAGGAGGAGCTGCT 0.478 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 22 76 --- --- --- --- NUDT16L1 84309 broad.mit.edu 37 16 4745140 4745142 + In_Frame_Del DEL AGA AGA - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:4745140_4745142delAGA ENST00000304301.6 + 3 629_631 c.596_598delAGA c.(595-600)cag>c p.QK199del NUDT16L1_ENST00000586536.1_3'UTR|NUDT16L1_ENST00000586252.1_In_Frame_Del_p.QK159del|NUDT16L1_ENST00000405142.1_3'UTR NM_032349.3 NP_115725.1 Q9BRJ7 SDOS_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 16-like 1 199 Interaction with PXN (By similarity). cytoplasm hydrolase activity endometrium(1)|large_intestine(1)|lung(1)|skin(1) 4 ACCGAGAAGCAGAAGAAGGCCCT 0.616 27 92 --- --- --- --- ZC3H7A 29066 broad.mit.edu 37 16 11855799 11855799 + Frame_Shift_Del DEL T T - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:11855799delT ENST00000396516.2 - 17 2377 c.2180delA c.(2179-2181)acfs p.N727fs ZC3H7A_ENST00000355758.4_Frame_Shift_Del_p.N727fs Q8IWR0 Z3H7A_HUMAN zinc finger CCCH-type containing 7A 727 nucleus nucleic acid binding|zinc ion binding breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2) 25 ATATTTTCTGTTTTTGTCTGG 0.338 19 47 --- --- --- --- NDE1 54820 broad.mit.edu 37 16 15785048 15785049 + Frame_Shift_Ins INS - - C rs113493697 byFrequency TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:15785048_15785049insC ENST00000396355.1 + 7 1397_1398 c.571_572insC c.(571-573)cccfs p.P191fs NDE1_ENST00000396354.1_Frame_Shift_Ins_p.P191fs|NDE1_ENST00000342673.5_Frame_Shift_Ins_p.P191fs|NDE1_ENST00000396353.2_Frame_Shift_Ins_p.P191fs NM_001143979.1 NP_001137451.1 Q9NXR1 NDE1_HUMAN nudE neurodevelopment protein 1 191 Interaction with CENPF (By similarity). T -> I (in Ref. 3; AAH33900). cell differentiation|cell division|centrosome duplication|establishment of chromosome localization|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|mitotic prometaphase|nervous system development cleavage furrow|condensed chromosome kinetochore|cytosol|microtubule|spindle pole centrosome microtubule binding endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1) 13 GAAACCCAGGACCCCCATGCCC 0.609 20 108 --- --- --- --- ARHGAP17 55114 broad.mit.edu 37 16 24942336 24942337 + Frame_Shift_Ins INS - - G rs144991183 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:24942336_24942337insG ENST00000289968.6 - 19 2352_2353 c.2283_2284insC c.(2281-2286)ccgtacfs p.Y762fs ARHGAP17_ENST00000303665.5_Frame_Shift_Ins_p.Y684fs|ARHGAP17_ENST00000441763.2_3'UTR NM_001006634.1 NP_001006635.1 Q68EM7 RHG17_HUMAN Rho GTPase activating protein 17 762 Pro-rich. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|tight junction GTPase activator activity|SH3 domain binding breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2) 30 GBM - Glioblastoma multiforme(48;0.0407) GGCGGAGTACTGGGGGGCGTTG 0.609 29 261 --- --- --- --- ZNF768 79724 broad.mit.edu 37 16 30536854 30536855 + Frame_Shift_Ins INS - - A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:30536854_30536855insA ENST00000380412.5 - 2 781_782 c.606_607insT c.(604-609)ttgggafs p.L202fs ZNF768_ENST00000562803.1_Frame_Shift_Ins_p.L171fs NM_024671.3 NP_078947.3 Q9H5H4 ZN768_HUMAN zinc finger protein 768 202 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1) 15 GGCTGCTCCCCAAACCCCTGAG 0.564 58 176 --- --- --- --- RP11-19N8.4 0 broad.mit.edu 37 16 33070233 33070233 + RNA DEL C C - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:33070233delC ENST00000561541.1 - 0 291 CGGCTTTTTGCCCCCCCTGCC 0.637 4 3 --- --- --- --- TOX3 27324 broad.mit.edu 37 16 52473205 52473206 + Frame_Shift_Del DEL GA GA - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:52473205_52473206delGA ENST00000219746.9 - 7 1946_1947 c.1662_1663delTC c.(1660-1665)tcagfs p.SQ554fs TOX3_ENST00000407228.3_Frame_Shift_Del_p.SQ549fs NM_001080430.2 NP_001073899.2 O15405 TOX3_HUMAN TOX high mobility group box family member 3 554 Gln-rich. apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1) 24 TGGTGCTGCTGAGAGGCTGGCT 0.550 7 52 --- --- --- --- RSPRY1 89970 broad.mit.edu 37 16 57255241 57255241 + Frame_Shift_Del DEL G G - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:57255241delG ENST00000537866.1 + 10 1948 c.1075delG c.(1075-1077)ggfs p.G359fs RSPRY1_ENST00000394420.4_Frame_Shift_Del_p.G359fs Q96DX4 RSPRY_HUMAN ring finger and SPRY domain containing 1 359 B30.2/SPRY. extracellular region zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3) 27 TGTGGATGCCGGGGTATGGTA 0.488 46 144 --- --- --- --- CMTM1 113540 broad.mit.edu 37 16 66603929 66603930 + Frame_Shift_Ins INS - - T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:66603929_66603930insT ENST00000379500.2 + 2 590_591 c.523_524insT c.(523-525)tttfs p.F175fs CMTM1_ENST00000528324.1_Frame_Shift_Ins_p.F58fs|CKLF-CMTM1_ENST00000527729.1_Intron|CMTM1_ENST00000531885.1_Intron|CMTM1_ENST00000533666.1_Intron|CMTM1_ENST00000533953.1_Intron|CMTM1_ENST00000457188.2_Frame_Shift_Ins_p.F58fs|CMTM1_ENST00000535705.1_Intron|CMTM1_ENST00000328020.6_Frame_Shift_Ins_p.F175fs|CMTM1_ENST00000336328.6_Intron|CMTM1_ENST00000332695.7_Intron NM_052999.3|NM_181268.2 NP_443725.3|NP_851785.2 Q8IZ96 CKLF1_HUMAN CKLF-like MARVEL transmembrane domain containing 1 58 chemotaxis extracellular space|integral to membrane cytokine activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2) 7 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222) CTGCATTGTCGTTTTTTTTATT 0.347 44 157 --- --- --- --- CTCF 10664 broad.mit.edu 37 16 67645338 67645339 + Frame_Shift_Ins INS - - A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:67645338_67645339insA ENST00000264010.4 + 3 1047_1048 c.603_604insA c.(601-606)gcaaaafs p.AK201fs CTCF_ENST00000401394.1_Intron NM_006565.3 NP_006556.1 P49711 CTCF_HUMAN CCCTC-binding factor (zinc finger protein) 201 chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 79 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577) AGCCACCAGCCAAAAAAACAAA 0.475 22 76 --- --- --- --- DDX19B 11269 broad.mit.edu 37 16 70365775 70365776 + Frame_Shift_Del DEL GT GT - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:70365775_70365776delGT ENST00000288071.6 + 10 1419_1420 c.1174_1175delGT c.(1174-1176)gfs p.V392fs RP11-529K1.3_ENST00000567706.1_Intron|DDX19B_ENST00000563206.1_Frame_Shift_Del_p.V397fs|DDX19B_ENST00000355992.3_Frame_Shift_Del_p.V361fs|RP11-529K1.2_ENST00000562077.1_RNA|DDX19B_ENST00000451014.3_Frame_Shift_Del_p.V366fs|DDX19B_ENST00000568625.1_Frame_Shift_Del_p.V283fs|DDX19B_ENST00000393657.2_Frame_Shift_Del_p.V283fs|DDX19B_ENST00000563392.1_Frame_Shift_Del_p.V283fs NM_007242.5 NP_009173.1 Q9UMR2 DD19B_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B 392 Helicase C-terminal. mRNA export from nucleus|protein transport|transmembrane transport cytoplasm|nuclear membrane|nuclear pore ATP binding|ATP-dependent helicase activity|protein binding|RNA binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1) 9 Ovarian(137;0.0694) GACCACCAACGTGTGTGCCCGC 0.599 OREG0023914 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 75 --- --- --- --- RP11-77K12.5 0 broad.mit.edu 37 16 75538613 75538613 + RNA DEL G G - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:75538613delG ENST00000571737.1 - 0 408 ACAGCTCAGCGGCTGCTTCTG 0.537 28 152 --- --- --- --- PKD1L2 114780 broad.mit.edu 37 16 81155069 81155069 + RNA DEL A A - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:81155069delA ENST00000534142.1 - 0 1000 PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000525539.1_RNA Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 actccatctcaaaaaaaaaaa 0.527 3 6 --- --- --- --- PKD1L2 114780 broad.mit.edu 37 16 81187706 81187707 + RNA DEL CT CT - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:81187706_81187707delCT ENST00000533478.1 - 0 2320_2321 PKD1L2_ENST00000525539.1_RNA NM_001278425.1 NP_001265354.1 Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 GGTGGTGGGGCTCTCTCTCTCC 0.604 11 27 --- --- --- --- JPH3 57338 broad.mit.edu 37 16 87678537 87678537 + Frame_Shift_Del DEL C C - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr16:87678537delC ENST00000284262.2 + 2 1298 c.1056delC c.(1054-1056)atfs p.I352fs NM_020655.2 NP_065706.2 Q8WXH2 JPH3_HUMAN junctophilin 3 352 calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(80;0.0287) AGAACCTCATCCCCCTGCGGG 0.662 21 66 --- --- --- --- PITPNA 5306 broad.mit.edu 37 17 1456400 1456400 + Frame_Shift_Del DEL T T - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:1456400delT ENST00000313486.7 - 3 350 c.95delA c.(94-96)atfs p.N32fs PITPNA_ENST00000539476.1_Frame_Shift_Del_p.N32fs NM_006224.3 NP_006215.1 Q00169 PIPNA_HUMAN phosphatidylinositol transfer protein, alpha 32 axon guidance|lipid metabolic process|visual perception cytoplasm phosphatidylcholine transmembrane transporter activity|phosphatidylinositol transporter activity|protein binding central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1) 7 UCEC - Uterine corpus endometrioid carcinoma (25;0.0845) ACCCGTTTCATTTTTACTGGC 0.517 42 145 --- --- --- --- LOC100130950 100130950 broad.mit.edu 37 17 5096766 5096766 + RNA DEL A A - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:5096766delA ENST00000571689.1 + 0 60 RP11-333E1.1_ENST00000575601.1_RNA NR_034082.1 tcaaaaaaataaaaaaaaaaa 0.507 3 5 --- --- --- --- EPN2 22905 broad.mit.edu 37 17 19232949 19232950 + Frame_Shift_Ins INS - - A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:19232949_19232950insA ENST00000314728.5 + 9 1884_1885 c.1400_1401insA c.(1399-1401)taafs p.*467fs EPN2_ENST00000571254.1_Frame_Shift_Ins_p.*403fs|EPN2_ENST00000395626.1_Frame_Shift_Ins_p.*467fs|EPN2_ENST00000347697.2_Frame_Shift_Ins_p.*410fs|EPN2_ENST00000575595.1_Frame_Shift_Ins_p.*175fs|EPN2_ENST00000395620.2_Frame_Shift_Ins_p.*410fs|EPN2_ENST00000395618.3_Frame_Shift_Ins_p.*182fs NM_014964.4 NP_055779.2 O95208 EPN2_HUMAN epsin 2 467 6 X 3 AA repeats of [DE]-P-W. endocytosis lipid binding p.T470fs*19(1) breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1) 19 all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143) CTTCGGACTTCAAAAAAAACAG 0.396 28 86 --- --- --- --- KCNJ12 3768 broad.mit.edu 37 17 21319454 21319459 + In_Frame_Del DEL CCATCA CCATCA - rs140687028 byFrequency TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:21319454_21319459delCCATCA ENST00000583088.1 + 3 1695_1700 c.800_805delCCATCA c.(799-807)ccc>c p.PIT267del KCNJ12_ENST00000331718.5_In_Frame_Del_p.PIT267del NM_021012.4 NP_066292.2 potassium inwardly-rectifying channel, subfamily J, member 12 p.P267H(1) NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3) 70 Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732) CTGGTGTCGCCCATCACCATCTTGCA 0.607 Prostate(3;0.18) 9 124 --- --- --- --- CRYBA1 1411 broad.mit.edu 37 17 27579135 27579137 + In_Frame_Del DEL GAG GAG - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:27579135_27579137delGAG ENST00000225387.3 + 4 270_272 c.269_271delGAG c.(268-273)aga>a p.RG90del NM_005208.4 NP_005199.2 P05813 CRBA1_HUMAN crystallin, beta A1 90 Beta/gamma crystallin 'Greek key' 2. visual perception soluble fraction structural constituent of eye lens breast(1)|large_intestine(2)|lung(1)|prostate(1) 5 BRCA - Breast invasive adenocarcinoma(11;3.3e-05)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551) ATCCTGGAGAGAGGAGAATACCC 0.493 OREG0024293 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 26 112 --- --- --- --- NF1 4763 broad.mit.edu 37 17 29553477 29553478 + Frame_Shift_Ins INS - - C rs145092683 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:29553477_29553478insC ENST00000358273.4 + 18 2409_2410 c.2026_2027insC c.(2026-2028)cccfs p.P676fs NF1_ENST00000356175.3_Frame_Shift_Ins_p.P676fs NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 676 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(4)|p.P678fs*10(1) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) ATGCAGCGGAACCCCCCCGATT 0.460 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 14 67 --- --- --- --- EVI2A 2123 broad.mit.edu 37 17 29645893 29645893 + Frame_Shift_Del DEL T T - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:29645893delT ENST00000247270.3 - 3 544 c.208delA c.(208-210)ttfs p.I70fs NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron|NF1_ENST00000581113.2_Intron|EVI2A_ENST00000462804.2_Frame_Shift_Del_p.I47fs|EVI2A_ENST00000461237.1_Frame_Shift_Del_p.I47fs NM_001003927.2 NP_001003927.1 P22794 EVI2A_HUMAN ecotropic viral integration site 2A 47 integral to membrane transmembrane receptor activity p.0?(8)|p.?(3) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 14 all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094) UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;5.94e-13)|Epithelial(4;7.98e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.4e-12)|GBM - Glioblastoma multiforme(4;0.18) TTGTTTTGAATAACTGAATCC 0.373 58 150 --- --- --- --- CDK12 51755 broad.mit.edu 37 17 37687472 37687472 + Frame_Shift_Del DEL G G - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:37687472delG ENST00000447079.4 + 14 4409 c.4376delG c.(4375-4377)tgfs p.W1459fs CDK12_ENST00000430627.2_Frame_Shift_Del_p.W1450fs NM_015083.1|NM_016507.2 NP_055898.1|NP_057591.2 Q9NYV4 CDK12_HUMAN cyclin-dependent kinase 12 1459 mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3) 70 GGCCTTCACTGGGGGGGCCCA 0.562 """Mis, N, F""" serous ovarian TCGA Ovarian(9;0.13) 28 117 --- --- --- --- CCR7 1236 broad.mit.edu 37 17 38715180 38715180 + Frame_Shift_Del DEL T T - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:38715180delT ENST00000246657.2 - 2 87 c.25delA c.(25-27)gcfs p.S9fs CCR7_ENST00000579344.1_Frame_Shift_Del_p.S3fs NM_001838.3 NP_001829.1 P32248 CCR7_HUMAN chemokine (C-C motif) receptor 7 9 cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion|T cell costimulation integral to membrane|intracellular C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 Breast(137;0.000496) ACCAGCACGCTTTTCATTGGT 0.507 15 74 --- --- --- --- KRT28 162605 broad.mit.edu 37 17 38953467 38953467 + Frame_Shift_Del DEL C C - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:38953467delC ENST00000306658.7 - 4 822 c.757delG c.(757-759)tafs p.V253fs NM_181535.3 NP_853513.2 Q7Z3Y7 K1C28_HUMAN keratin 28 253 Linker 12.|Rod. cytoplasm|intermediate filament structural molecule activity NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 30 Breast(137;0.000301) GCGAGGTCTACCCCCGGGGCC 0.597 12 143 --- --- --- --- KRT14 3861 broad.mit.edu 37 17 39742887 39742887 + Frame_Shift_Del DEL C C - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:39742887delC ENST00000167586.6 - 1 286 c.200delG c.(199-201)gcfs p.G68fs NM_000526.4 NP_000517.2 P02533 K1C14_HUMAN keratin 14 68 Head. epidermis development|hemidesmosome assembly|intermediate filament bundle assembly cytosol|keratin filament|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1) 25 Breast(137;0.000307) GCCATAGCCGCCCCCCAGCCC 0.682 7 22 --- --- --- --- HOXB3 3213 broad.mit.edu 37 17 46628440 46628440 + Frame_Shift_Del DEL C C - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:46628440delC ENST00000470495.1 - 2 1999 c.552delG c.(550-552)ggfs p.G184fs HOXB3_ENST00000311626.4_Frame_Shift_Del_p.G184fs|HOXB3_ENST00000472863.1_Frame_Shift_Del_p.G111fs|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000490677.1_Frame_Shift_Del_p.G50fs|HOXB3_ENST00000489475.1_Frame_Shift_Del_p.G111fs|HOXB3_ENST00000460160.1_Frame_Shift_Del_p.G52fs|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000485909.2_Frame_Shift_Del_p.G52fs|HOXB3_ENST00000498678.1_Frame_Shift_Del_p.G184fs|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000476342.1_Frame_Shift_Del_p.G184fs P14651 HXB3_HUMAN homeobox B3 184 angiogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1) 30 ACGCCGCCGACCCCGGGGGGC 0.761 19 74 --- --- --- --- TMEM92 162461 broad.mit.edu 37 17 48356598 48356598 + Frame_Shift_Del DEL C C - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:48356598delC ENST00000300433.3 + 6 519 c.409delC c.(409-411)ccfs p.P139fs TMEM92_ENST00000507382.1_Frame_Shift_Del_p.P139fs NM_001168215.1 NP_001161687.1 Q6UXU6 TMM92_HUMAN transmembrane protein 92 139 Pro-rich. integral to membrane NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1) 7 CACAGAGCCACCCCCTCCCTA 0.597 91 384 --- --- --- --- XYLT2 64132 broad.mit.edu 37 17 48433967 48433967 + Frame_Shift_Del DEL C C - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:48433967delC ENST00000017003.2 + 8 1627 c.1578delC c.(1576-1578)tafs p.Y526fs XYLT2_ENST00000507602.1_Frame_Shift_Del_p.Y526fs NM_022167.2 NP_071450.2 Q9H1B5 XYLT2_HUMAN xylosyltransferase II 526 glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity p.G529fs*17(1) endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1) 12 Breast(11;7.18e-19) ATGGCAGCTACCCCCCCGGCA 0.602 39 90 --- --- --- --- LUC7L3 51747 broad.mit.edu 37 17 48819046 48819046 + Frame_Shift_Del DEL A A - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:48819046delA ENST00000505658.1 + 5 569 c.380delA c.(379-381)gafs p.E127fs LUC7L3_ENST00000393227.2_Frame_Shift_Del_p.E127fs|LUC7L3_ENST00000544170.1_Frame_Shift_Del_p.E51fs|LUC7L3_ENST00000240304.1_Frame_Shift_Del_p.E127fs O95232 LC7L3_HUMAN LUC7-like 3 (S. cerevisiae) 127 apoptosis|mRNA processing|response to stress|RNA splicing focal adhesion|nuclear speck DNA binding|mRNA binding|protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1) 12 AAAAATGAAGAAAAAATTCAG 0.363 15 63 --- --- --- --- WFIKKN2 124857 broad.mit.edu 37 17 48917825 48917825 + Frame_Shift_Del DEL G G - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:48917825delG ENST00000311378.4 + 2 1704 c.1176delG c.(1174-1176)cafs p.Q392fs WFIKKN2_ENST00000426127.1_Frame_Shift_Del_p.Q299fs|RP11-506D12.5_ENST00000572491.2_RNA NM_175575.5 NP_783165.1 Q8TEU8 WFKN2_HUMAN WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2 392 BPTI/Kunitz inhibitor 2. extracellular region metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1) 29 BRCA - Breast invasive adenocarcinoma(22;1.09e-08) CCGCCCTGCAGGGGCCCTGCA 0.647 19 68 --- --- --- --- HSF5 124535 broad.mit.edu 37 17 56557547 56557548 + Frame_Shift_Ins INS - - G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:56557547_56557548insG ENST00000323777.3 - 2 740_741 c.631_632insC c.(631-633)cgafs p.R211fs NM_001080439.1 NP_001073908.1 Q4G112 HSF5_HUMAN heat shock transcription factor family member 5 211 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1) 16 Medulloblastoma(34;0.127)|all_neural(34;0.237) ACTGTGGTCGTGGGATGGAGTT 0.475 37 87 --- --- --- --- MED13 9969 broad.mit.edu 37 17 60033826 60033826 + Frame_Shift_Del DEL T T - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:60033826delT ENST00000397786.2 - 24 5573 c.5497delA c.(5497-5499)gtfs p.S1834fs NM_005121.2 NP_005112.2 Q9UHV7 MED13_HUMAN mediator complex subunit 13 1834 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 CTAGCAGAACTTTTTTTCCGA 0.363 20 83 --- --- --- --- LRRC37A16P 651250 broad.mit.edu 37 17 66131476 66131476 + RNA DEL C C - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:66131476delC ENST00000590019.1 - 0 298 CGCCCAGGAGCCCCCCTGACT 0.652 8 22 --- --- --- --- CDC42EP4 23580 broad.mit.edu 37 17 71281934 71281934 + Frame_Shift_Del DEL C C - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:71281934delC ENST00000335793.3 - 2 1100 c.706delG c.(706-708)agfs p.E236fs CDC42EP4_ENST00000581014.1_Intron|CDC42EP4_ENST00000439510.2_Frame_Shift_Del_p.E166fs Q9H3Q1 BORG4_HUMAN CDC42 effector protein (Rho GTPase binding) 4 236 positive regulation of pseudopodium assembly|regulation of cell shape actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton GTP-Rho binding cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1) 14 LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711) TAACCACCCTCCCCCTCCTCG 0.672 11 56 --- --- --- --- SDK2 54549 broad.mit.edu 37 17 71344855 71344855 + Frame_Shift_Del DEL G G - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:71344855delG ENST00000392650.3 - 44 6048 c.6048delC c.(6046-6048)ccfs p.P2016fs SDK2_ENST00000388726.3_Frame_Shift_Del_p.P1997fs|SDK2_ENST00000410094.1_5'UTR NM_001144952.1 NP_001138424.1 Q58EX2 SDK2_HUMAN sidekick cell adhesion molecule 2 2016 cell adhesion integral to membrane breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 GGCTGGGCCTGGGGGGAGACC 0.657 18 68 --- --- --- --- ATP5H 10476 broad.mit.edu 37 17 73038718 73038718 + Frame_Shift_Del DEL T T - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:73038718delT ENST00000301587.4 - 2 75 c.28delA c.(28-30)ccfs p.T10fs ATP5H_ENST00000344546.4_Frame_Shift_Del_p.T10fs|KCTD2_ENST00000581589.1_Intron|KCTD2_ENST00000584767.1_Intron NM_006356.2 NP_006347.1 O75947 ATP5H_HUMAN ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d 10 ATP catabolic process|respiratory electron transport chain mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) hydrogen ion transmembrane transporter activity lung(1)|skin(1) 2 all_lung(278;0.226) CAGTCAATGGTTTTTAGAGCA 0.418 59 166 --- --- --- --- ITGB4 3691 broad.mit.edu 37 17 73725372 73725373 + Frame_Shift_Ins INS - - C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:73725372_73725373insC ENST00000200181.3 + 7 780_781 c.593_594insC c.(592-594)gccfs p.A198fs ITGB4_ENST00000579662.1_Frame_Shift_Ins_p.A198fs|ITGB4_ENST00000450894.3_Frame_Shift_Ins_p.A198fs|ITGB4_ENST00000449880.2_Frame_Shift_Ins_p.A198fs|ITGB4_ENST00000339591.3_Frame_Shift_Ins_p.A198fs|ITGB4_ENST00000584558.1_3'UTR NM_000213.3 NP_000204.3 P16144 ITB4_HUMAN integrin, beta 4 198 VWFA. cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity p.D198D(1)|p.F201fs*9(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1) 43 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) CCCAACAGTGACCCCCCCTTCT 0.599 32 63 --- --- --- --- ZACN 353174 broad.mit.edu 37 17 74077706 74077707 + Frame_Shift_Ins INS - - G rs146722649 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr17:74077706_74077707insG ENST00000334586.5 + 7 833_834 c.750_751insG c.(748-753)tgggggfs p.WG250fs EXOC7_ENST00000332065.5_3'UTR|EXOC7_ENST00000589210.1_3'UTR|EXOC7_ENST00000607838.1_3'UTR|EXOC7_ENST00000591724.1_Intron NM_180990.3 NP_851321.2 Q401N2 ZACN_HUMAN zinc activated ligand-gated ion channel 250 Leu-rich. response to zinc ion integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 11 CTGACGTGTGCGGGGGGTTGCT 0.614 59 199 --- --- --- --- RNMT 8731 broad.mit.edu 37 18 13746253 13746253 + Frame_Shift_Del DEL A A - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr18:13746253delA ENST00000383314.2 + 9 1414 c.1174delA c.(1174-1176)aafs p.K393fs RNMT_ENST00000592764.1_Frame_Shift_Del_p.K393fs|RNMT_ENST00000535051.1_Frame_Shift_Del_p.K151fs|RNMT_ENST00000262173.3_Frame_Shift_Del_p.K393fs|RNMT_ENST00000543302.2_Frame_Shift_Del_p.K393fs|RNMT_ENST00000589866.1_Frame_Shift_Del_p.K393fs O43148 MCES_HUMAN RNA (guanine-7-) methyltransferase 393 mRNA capping|transcription from RNA polymerase II promoter|viral reproduction nucleoplasm mRNA (guanine-N7-)-methyltransferase activity|RNA binding p.T394fs*19(1) central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2) 18 ACTAGTCTACAAAAAAACATT 0.308 22 74 --- --- --- --- TTC39C 125488 broad.mit.edu 37 18 21705516 21705517 + Splice_Site INS - - A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr18:21705516_21705517insA ENST00000540918.2 + 5 749 c.e5+2 TTC39C_ENST00000304621.6_Splice_Site|TTC39C_ENST00000317571.3_Splice_Site Q8N584 TT39C_HUMAN tetratricopeptide repeat domain 39C binding breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1) 19 TGAGTCAAGGTAAAAAATTTAA 0.431 41 110 --- --- --- --- OSBPL1A 114876 broad.mit.edu 37 18 21751417 21751417 + Frame_Shift_Del DEL A A - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr18:21751417delA ENST00000319481.3 - 23 2453 c.2247delT c.(2245-2247)ttfs p.F749fs OSBPL1A_ENST00000399443.3_Frame_Shift_Del_p.F236fs|OSBPL1A_ENST00000357041.4_Frame_Shift_Del_p.F367fs NM_080597.3 NP_542164.2 Q9BXW6 OSBL1_HUMAN oxysterol binding protein-like 1A 749 cholesterol metabolic process|lipid transport|vesicle-mediated transport phospholipid binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 36 all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17) ATTCCTTACCAAAAAGGCCAC 0.308 37 106 --- --- --- --- DSC2 1824 broad.mit.edu 37 18 28673608 28673609 + Splice_Site INS - - A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr18:28673608_28673609insA ENST00000280904.6 - 2 513 c.e2-2 DSC2_ENST00000251081.6_Splice_Site NM_024422.3 NP_077740.1 Q02487 DSC2_HUMAN desmocollin 2 homophilic cell adhesion desmosome|integral to membrane calcium ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1) 21 OV - Ovarian serous cystadenocarcinoma(10;0.0241) TATTAAGATCTAAAAAATGAAA 0.262 22 89 --- --- --- --- TCEB3C 162699 broad.mit.edu 37 18 44555282 44555282 + Frame_Shift_Del DEL A A - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr18:44555282delA ENST00000330682.2 - 1 1167 c.932delT c.(931-933)tcfs p.F311fs KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron NM_145653.3 NP_663628.2 Q8NG57 ELOA3_HUMAN transcription elongation factor B polypeptide 3C (elongin A3) 311 Activation domain (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane|nucleus DNA binding NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2) 30 GCGTCCAGGGAAAGCAGCTTC 0.642 43 1006 --- --- --- --- ZBTB7C 201501 broad.mit.edu 37 18 45567085 45567085 + Frame_Shift_Del DEL C C - rs115080210 by1000genomes TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr18:45567085delC ENST00000588982.1 - 3 895 c.394delG c.(394-396)acfs p.D132fs ZBTB7C_ENST00000535628.2_Frame_Shift_Del_p.D132fs|ZBTB7C_ENST00000332053.2_Frame_Shift_Del_p.D132fs|ZBTB7C_ENST00000590800.1_Frame_Shift_Del_p.D132fs|ZBTB7C_ENST00000586438.1_Frame_Shift_Del_p.D132fs A1YPR0 ZBT7C_HUMAN zinc finger and BTB domain containing 7C 132 Asp-rich.|Glu-rich. intracellular nucleic acid binding|zinc ion binding endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 tcccccccgtcccccCCAGGC 0.582 12 37 --- --- --- --- LOC100287225 100287225 broad.mit.edu 37 18 48960171 48960171 + RNA DEL G G - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr18:48960171delG ENST00000578152.1 + 0 216 NR_040075.1 CTTGTTTCATGGGGGGCACTC 0.403 3 3 --- --- --- --- RP11-795H16.3 0 broad.mit.edu 37 18 57817640 57817640 + RNA DEL A A - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr18:57817640delA ENST00000588794.1 + 0 346 TGCTATTTGTaaaaaaaataa 0.294 7 20 --- --- --- --- TMX3 54495 broad.mit.edu 37 18 66367677 66367677 + Frame_Shift_Del DEL T T - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr18:66367677delT ENST00000299608.2 - 6 673 c.357delA c.(355-357)aafs p.K119fs TMX3_ENST00000443099.2_Intron|TMX3_ENST00000562706.1_Frame_Shift_Del_p.K119fs NM_019022.3 NP_061895.3 Q96JJ7 TMX3_HUMAN thioredoxin-related transmembrane protein 3 119 Thioredoxin. cell redox homeostasis|glycerol ether metabolic process endoplasmic reticulum membrane|integral to membrane electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1) 17 TAATATCATCTTTTGTTCGTG 0.249 49 132 --- --- --- --- SOCS6 9306 broad.mit.edu 37 18 67992095 67992096 + Frame_Shift_Ins INS - - A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr18:67992095_67992096insA ENST00000397942.3 + 2 507_508 c.191_192insA c.(190-192)gaafs p.E64fs SOCS6_ENST00000582322.1_Frame_Shift_Ins_p.E64fs NM_004232.3 NP_004223.2 O14544 SOCS6_HUMAN suppressor of cytokine signaling 6 64 defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth cytoplasm NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2) 22 Esophageal squamous(42;0.129)|Colorectal(73;0.152) GAAAAAGGCGGAAAAAACAGAT 0.470 22 157 --- --- --- --- PRSS57 400668 broad.mit.edu 37 19 694923 694923 + Frame_Shift_Del DEL G G - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:694923delG ENST00000329267.7 - 2 156 c.127delC c.(127-129)acfs p.H43fs NM_214710.3 NP_999875.1 Q6UWY2 PRS57_HUMAN protease, serine, 57 43 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity central_nervous_system(1)|lung(5) 6 GGCCTGGAGTGGGGGGTCACC 0.701 5 11 --- --- --- --- UHRF1 29128 broad.mit.edu 37 19 4944201 4944202 + RNA DEL GA GA - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:4944201_4944202delGA ENST00000592666.1 + 0 1707_1708 Q96T88 UHRF1_HUMAN ubiquitin-like with PHD and ring finger domains 1 cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter nucleus acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2) 16 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276) GAGAGCGGCTGAGAGAGAGCAA 0.653 8 28 --- --- --- --- VAV1 7409 broad.mit.edu 37 19 6850745 6850746 + Frame_Shift_Ins INS - - G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:6850745_6850746insG ENST00000304076.2 + 23 2222_2223 c.2128_2129insG c.(2128-2130)aaafs p.K710fs VAV1_ENST00000599806.1_Frame_Shift_Ins_p.K677fs|VAV1_ENST00000602142.1_Frame_Shift_Ins_p.K732fs|VAV1_ENST00000596764.1_Frame_Shift_Ins_p.K700fs|VAV1_ENST00000539284.1_Frame_Shift_Ins_p.K635fs NM_001258206.1 NP_001245135.1 P15498 VAV_HUMAN vav 1 guanine nucleotide exchange factor 732 SH2. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation cytosol|plasma membrane metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 62 GATCACAGAGAAAAAGGCTTTC 0.559 21 71 --- --- --- --- ZNF557 79230 broad.mit.edu 37 19 7083661 7083662 + Frame_Shift_Ins INS - - A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:7083661_7083662insA ENST00000414706.1 + 8 1672_1673 c.1199_1200insA c.(1198-1200)gaafs p.E400fs ZNF557_ENST00000439035.2_Frame_Shift_Ins_p.E393fs|ZNF557_ENST00000252840.6_Frame_Shift_Ins_p.E400fs NM_001044387.1|NM_001044388.1|NM_024341.2 NP_001037852.1|NP_001037853.1|NP_077317.2 Q8N988 ZN557_HUMAN zinc finger protein 557 393 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 17 Lung(535;0.179) ACTCACACTGGAAAAAAACCCT 0.366 22 56 --- --- --- --- CAMSAP3 57662 broad.mit.edu 37 19 7676687 7676687 + Frame_Shift_Del DEL C C - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:7676687delC ENST00000446248.2 + 13 1490 c.1389delC c.(1387-1389)ggfs p.G463fs CAMSAP3_ENST00000160298.4_Frame_Shift_Del_p.G436fs NM_001080429.2 NP_001073898.1 Q9P1Y5 CAMP3_HUMAN calmodulin regulated spectrin-associated protein family, member 3 436 Pro-rich. epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance cytoplasm|microtubule|zonula adherens microtubule minus-end binding cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2) 19 ACAGCCTGGGCCCCCCGCGTC 0.682 21 21 --- --- --- --- COL5A3 50509 broad.mit.edu 37 19 10088132 10088132 + Frame_Shift_Del DEL G G - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:10088132delG ENST00000264828.3 - 43 3228 c.3143delC c.(3142-3144)ctfs p.P1048fs NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 1048 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) AGTGGGGCCAGGGGGGCCACG 0.662 44 151 --- --- --- --- CTD-2369P2.5 0 broad.mit.edu 37 19 10377498 10377498 + RNA DEL T T - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:10377498delT ENST00000592893.1 - 0 141 TCCATAGCCCTTTTTTTTTCC 0.428 8 18 --- --- --- --- IER2 9592 broad.mit.edu 37 19 13264483 13264484 + Frame_Shift_Ins INS - - C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:13264483_13264484insC ENST00000588173.1 + 1 1695_1696 c.483_484insC c.(481-486)caccccfs p.HP161fs CTC-250I14.6_ENST00000586483.1_RNA|IER2_ENST00000292433.3_Frame_Shift_Ins_p.HP161fs|IER2_ENST00000587885.1_Frame_Shift_Ins_p.HP161fs|CTC-250I14.6_ENST00000592882.1_RNA Q9BTL4 IER2_HUMAN immediate early response 2 161 kidney(1)|lung(1)|ovary(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(19;3.41e-21) ATCGCCTGCAGCCCCCTCCGGC 0.693 OREG0025291 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 58 --- --- --- --- CACNA1A 773 broad.mit.edu 37 19 13373574 13373574 + Frame_Shift_Del DEL T T - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:13373574delT ENST00000360228.5 - 25 4062 c.4063delA c.(4063-4065)ccfs p.T1355fs CACNA1A_ENST00000573710.2_Frame_Shift_Del_p.T1356fs NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 1356 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) CGCTTGATGGTTTTAAGAGGT 0.517 OREG0025294 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 26 --- --- --- --- BRD4 23476 broad.mit.edu 37 19 15376248 15376248 + Frame_Shift_Del DEL G G - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:15376248delG ENST00000263377.2 - 5 987 c.766delC c.(766-768)agfs p.Q256fs BRD4_ENST00000371835.4_Frame_Shift_Del_p.Q256fs|BRD4_ENST00000360016.5_Frame_Shift_Del_p.Q256fs NM_058243.2 NP_490597.1 O60885 BRD4_HUMAN bromodomain containing 4 256 interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle condensed nuclear chromosome|cytoplasm protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18) GGTTGTGGCTGGGGGGGCACT 0.687 T C15orf55 lethal midline carcinoma of young people 10 30 --- --- --- --- UNC13A 23025 broad.mit.edu 37 19 17766809 17766809 + Frame_Shift_Del DEL G G - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:17766809delG ENST00000428389.2 - 11 1429 c.1430delC c.(1429-1431)cafs p.P477fs UNC13A_ENST00000552293.1_Frame_Shift_Del_p.P389fs|UNC13A_ENST00000252773.7_Frame_Shift_Del_p.P389fs|UNC13A_ENST00000551649.1_Frame_Shift_Del_p.P389fs|UNC13A_ENST00000519716.2_Frame_Shift_Del_p.P389fs|UNC13A_ENST00000550896.1_Frame_Shift_Del_p.P389fs Q9UPW8 UN13A_HUMAN unc-13 homolog A (C. elegans) 389 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2) 61 GGGTGCCACTGGGGCCTTGTC 0.662 9 18 --- --- --- --- ZNF254 9534 broad.mit.edu 37 19 24310632 24310633 + Frame_Shift_Ins INS - - T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:24310632_24310633insT ENST00000357002.4 + 4 1945_1946 c.1830_1831insT c.(1828-1833)gcttttfs p.AF610fs ZNF254_ENST00000342944.6_Frame_Shift_Ins_p.AF525fs NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2 NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3 O75437 ZN254_HUMAN zinc finger protein 254 610 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186) GTGGCAAAGCATTTTTCTGGTC 0.376 18 82 --- --- --- --- ZNF507 22847 broad.mit.edu 37 19 32843909 32843909 + Frame_Shift_Del DEL A A - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:32843909delA ENST00000311921.3 + 2 365 c.173delA c.(172-174)gafs p.E58fs ZNF507_ENST00000587084.1_3'UTR|ZNF507_ENST00000355898.5_Frame_Shift_Del_p.E58fs|ZNF507_ENST00000544431.1_Frame_Shift_Del_p.E58fs NM_001136156.1|NM_014910.4 NP_001129628.1|NP_055725.2 Q8TCN5 ZN507_HUMAN zinc finger protein 507 58 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 31 Esophageal squamous(110;0.162) GTGGAAAATGAAAAGTCACAA 0.368 15 52 --- --- --- --- ZNF792 126375 broad.mit.edu 37 19 35450469 35450470 + Frame_Shift_Ins INS - - A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:35450469_35450470insA ENST00000404801.1 - 4 675_676 c.289_290insT c.(289-291)ccafs p.P97fs ZNF792_ENST00000605484.1_Frame_Shift_Ins_p.P30fs NM_175872.4 NP_787068.3 Q3KQV3 ZN792_HUMAN zinc finger protein 792 97 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5) 12 all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) TGTTCCATGGCAAAAATCTGAA 0.480 17 51 --- --- --- --- KMT2B 9757 broad.mit.edu 37 19 36222938 36222938 + Frame_Shift_Del DEL C C - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:36222938delC ENST00000222270.7 + 27 5567 c.5567delC c.(5566-5568)gcfs p.A1856fs WBP7_ENST00000420124.1_Frame_Shift_Del_p.A1856fs|KMT2B_ENST00000607650.1_RNA NM_014727.1 NP_055542.1 CCTCCTCCAGCCCCCCGTTCT 0.642 10 20 --- --- --- --- RYR1 6261 broad.mit.edu 37 19 39025414 39025415 + Frame_Shift_Ins INS - - G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:39025414_39025415insG ENST00000355481.4 + 78 11430_11431 c.11299_11300insG c.(11299-11301)gggfs p.G3767fs RYR1_ENST00000359596.3_Frame_Shift_Ins_p.G3772fs|RYR1_ENST00000360985.3_Frame_Shift_Ins_p.G3772fs NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 3772 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GCTGCACACCCGGGGGGCGGCC 0.589 21 44 --- --- --- --- LGALS17A 400696 broad.mit.edu 37 19 40172017 40172017 + RNA DEL G G - rs28457128 by1000genomes TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:40172017delG ENST00000412609.1 + 0 61 AATCTGTTACGGGGGGGAGGC 0.587 8 10 --- --- --- --- CIC 23152 broad.mit.edu 37 19 42794869 42794869 + Frame_Shift_Del DEL C C - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:42794869delC ENST00000572681.2 + 11 4744 c.4676delC c.(4675-4677)gcfs p.A1559fs CIC_ENST00000575354.2_Frame_Shift_Del_p.A650fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.A650fs Q96RK0 CIC_HUMAN capicua transcriptional repressor 650 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) GTGCCCTCCGCCCCCGCCCCA 0.682 """Mis, F, S""" oligodendroglioma 13 37 --- --- --- --- GLTSCR1 29998 broad.mit.edu 37 19 48197891 48197891 + Frame_Shift_Del DEL C C - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:48197891delC ENST00000396720.3 + 8 2997 c.2803delC c.(2803-2805)ccfs p.P940fs CTD-2571L23.8_ENST00000599924.1_lincRNA NM_015711.3 NP_056526.3 Q9NZM4 GSCR1_HUMAN glioma tumor suppressor candidate region gene 1 940 Poly-Pro. protein binding breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2) 20 all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086) all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355) GCCGGCAGCACCCCCCCCACC 0.672 9 29 --- --- --- --- BCL2L12 83596 broad.mit.edu 37 19 50173670 50173670 + Frame_Shift_Del DEL G G - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:50173670delG ENST00000246785.3 + 6 1137 c.879delG c.(877-879)ctfs p.L293fs BCL2L12_ENST00000441864.2_Frame_Shift_Del_p.L292fs|BCL2L12_ENST00000246784.3_3'UTR NM_001040668.1|NM_138639.1 NP_001035758.1|NP_619580.1 Q9HB09 B2L12_HUMAN BCL2-like 12 (proline rich) 293 apoptosis central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1) 8 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214) TGGCCGGGCTGGGGGGCACCC 0.751 4 8 --- --- --- --- SIGLEC16 400709 broad.mit.edu 37 19 50475431 50475431 + RNA DEL C C - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:50475431delC ENST00000602139.1 + 0 1304 sialic acid binding Ig-like lectin 16 (gene/pseudogene) endometrium(2)|kidney(2)|lung(6) 10 TCCCACAGAGCCCCCCCAGCT 0.682 9 33 --- --- --- --- ZNF880 400713 broad.mit.edu 37 19 52877717 52877717 + Frame_Shift_Del DEL T T - rs77187934 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:52877717delT ENST00000597976.1 + 3 325 c.305delT c.(304-306)atfs p.I102fs ZNF880_ENST00000424032.2_Intron|ZNF880_ENST00000422689.2_Intron|ZNF880_ENST00000600321.1_Intron|ZNF880_ENST00000344085.5_Intron Q6PDB4 ZN880_HUMAN zinc finger protein 880 0 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1) 10 GGCCCCATAAttttttttttt 0.473 9 12 --- --- --- --- ZNF264 9422 broad.mit.edu 37 19 57705383 57705384 + Frame_Shift_Ins INS - - C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:57705383_57705384insC ENST00000599653.1 + 2 551_552 c.174_175insC c.(172-177)ctccccfs p.LP58fs ZNF264_ENST00000536056.1_Intron|ZNF264_ENST00000600531.1_Intron|ZNF264_ENST00000263095.6_Intron O43296 ZN264_HUMAN zinc finger protein 264 0 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 27 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135) AGGCCTTCCTTCCCCCTCCACC 0.579 22 105 --- --- --- --- ZNF749 388567 broad.mit.edu 37 19 57954687 57954687 + Frame_Shift_Del DEL G G - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:57954687delG ENST00000334181.4 + 3 421 c.171delG c.(169-171)gafs p.E57fs AC004076.9_ENST00000596831.1_Intron NM_001023561.2 NP_001018855.2 O43361 ZN749_HUMAN zinc finger protein 749 57 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1) 13 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177) AGGATGAGGAGGTACCTTCCA 0.512 17 59 --- --- --- --- ZNF773 374928 broad.mit.edu 37 19 58018055 58018055 + Frame_Shift_Del DEL A A - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:58018055delA ENST00000282292.4 + 4 732 c.592delA c.(592-594)aafs p.K198fs ZNF773_ENST00000593916.1_Intron|ZNF773_ENST00000599847.1_Intron|ZNF773_ENST00000598770.1_Frame_Shift_Del_p.K197fs NM_198542.1 NP_940944.1 Q6PK81 ZN773_HUMAN zinc finger protein 773 198 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 22 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254) TGAATGTGGGAAAGCCTTTGG 0.453 29 74 --- --- --- --- ZNF417 147687 broad.mit.edu 37 19 58420945 58420945 + Frame_Shift_Del DEL A A - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr19:58420945delA ENST00000312026.5 - 3 865 c.701delT c.(700-702)tcfs p.F234fs ZNF417_ENST00000595559.1_Frame_Shift_Del_p.F233fs|ZNF417_ENST00000536263.1_Frame_Shift_Del_p.F35fs|CTD-2583A14.9_ENST00000602124.1_Intron NM_152475.2 NP_689688.2 Q8TAU3 ZN417_HUMAN zinc finger protein 417 234 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1) 18 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151) ATCTCTAGTGAAAAGTTTCTG 0.428 24 114 --- --- --- --- SLC23A2 9962 broad.mit.edu 37 20 4864378 4864378 + Frame_Shift_Del DEL A A - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:4864378delA ENST00000379333.1 - 9 1126 c.734delT c.(733-735)tgfs p.L245fs SLC23A2_ENST00000424750.2_Intron|SLC23A2_ENST00000468355.1_5'UTR|SLC23A2_ENST00000338244.1_Frame_Shift_Del_p.L245fs NM_203327.1 NP_976072.1 Q9UGH3 S23A2_HUMAN solute carrier family 23 (ascorbic acid transporter), member 2 245 L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport apical plasma membrane|integral to plasma membrane|membrane fraction nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 TGTAATGGTCAAGGGACCGAT 0.577 20 93 --- --- --- --- ZNF133 7692 broad.mit.edu 37 20 18287008 18287008 + Frame_Shift_Del DEL A A - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:18287008delA ENST00000377671.3 + 6 747 c.188delA c.(187-189)gafs p.E63fs ZNF133_ENST00000538547.1_Intron|ZNF133_ENST00000535822.1_5'UTR|ZNF133_ENST00000316358.4_Frame_Shift_Del_p.E63fs|ZNF133_ENST00000402618.2_5'UTR|ZNF133_ENST00000396026.3_Frame_Shift_Del_p.E66fs|ZNF133_ENST00000401790.1_Frame_Shift_Del_p.E63fs NM_001083330.1|NM_003434.4 NP_001076799.1|NP_003425.2 P52736 ZN133_HUMAN zinc finger protein 133 63 KRAB. nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 26 TGGAGAGAGGAAAAAAAATGT 0.473 10 21 --- --- --- --- TP53INP2 58476 broad.mit.edu 37 20 33296605 33296606 + Frame_Shift_Ins INS - - C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:33296605_33296606insC ENST00000374810.3 + 3 451_452 c.62_63insC c.(61-63)tccfs p.S21fs NCOA6_ENST00000593786.1_Intron|TP53INP2_ENST00000374809.2_Frame_Shift_Ins_p.S21fs NM_021202.1 NP_067025.1 Q8IXH6 T53I2_HUMAN tumor protein p53 inducible nuclear protein 2 21 nucleus endometrium(1)|urinary_tract(1) 2 GACCCCGACTGCCCCCGCGCCT 0.668 11 32 --- --- --- --- RALGAPB 57148 broad.mit.edu 37 20 37177336 37177336 + Frame_Shift_Del DEL T T - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:37177336delT ENST00000262879.6 + 20 3191 c.2907delT c.(2905-2907)gafs p.D969fs RALGAPB_ENST00000397042.3_Frame_Shift_Del_p.D965fs|RALGAPB_ENST00000397038.1_Frame_Shift_Del_p.D747fs|RALGAPB_ENST00000397040.1_Frame_Shift_Del_p.D969fs Q86X10 RLGPB_HUMAN Ral GTPase activating protein, beta subunit (non-catalytic) 969 activation of Ral GTPase activity intracellular protein heterodimerization activity|Ral GTPase activator activity p.F971fs*53(1) breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 TTCTAGATGATTTTTTCCCCT 0.378 17 40 --- --- --- --- ZNF334 55713 broad.mit.edu 37 20 45131105 45131106 + Frame_Shift_Del DEL TC TC - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:45131105_45131106delTC ENST00000457685.2 - 6 2081_2082 c.758_759delGA c.(757-759)afs p.R253fs ZNF334_ENST00000347606.4_Frame_Shift_Del_p.R291fs|ZNF334_ENST00000593880.1_Frame_Shift_Del_p.R314fs Q9HCZ1 ZN334_HUMAN zinc finger protein 334 291 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0122) ATTCATAGGGTCTCTCTCCAGT 0.416 34 126 --- --- --- --- DIDO1 11083 broad.mit.edu 37 20 61513712 61513713 + Frame_Shift_Ins INS - - T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr20:61513712_61513713insT ENST00000266070.4 - 16 3920_3921 c.3595_3596insA c.(3595-3597)caafs p.Q1199fs DIDO1_ENST00000395343.1_Frame_Shift_Ins_p.Q1199fs NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 1199 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) GGGACGTTTGATTTTTTGGCAG 0.431 27 92 --- --- --- --- DOPEY2 9980 broad.mit.edu 37 21 37660372 37660372 + Frame_Shift_Del DEL T T - rs34641375 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr21:37660372delT ENST00000399151.3 + 33 6306 c.6221delT c.(6220-6222)ctfs p.L2074fs NM_005128.2 NP_005119.2 Q9Y3R5 DOP2_HUMAN dopey family member 2 2074 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 CAGATGTTTCTTTTTTTCAGA 0.373 7 137 --- --- --- --- C21orf33 8209 broad.mit.edu 37 21 45555967 45555967 + Frame_Shift_Del DEL G G - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr21:45555967delG ENST00000291577.6 + 3 313 c.220delG c.(220-222)ggfs p.G74fs C21orf33_ENST00000493883.1_3'UTR|C21orf33_ENST00000427803.2_Frame_Shift_Del_p.G74fs|C21orf33_ENST00000348499.5_Frame_Shift_Del_p.G74fs NM_004649.6 NP_004640.3 P30042 ES1_HUMAN chromosome 21 open reading frame 33 74 mitochondrion NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 8 STAD - Stomach adenocarcinoma(101;0.168)|Colorectal(79;0.191) GAGCCGTGGAGGGGCTGAAGT 0.552 9 30 --- --- --- --- KRTAP10-5 386680 broad.mit.edu 37 21 45999955 45999955 + Frame_Shift_Del DEL G G - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr21:45999955delG ENST00000400372.1 - 1 526 c.501delC c.(499-501)ccfs p.P167fs TSPEAR_ENST00000323084.4_Intron NM_198694.2 NP_941967.2 P60370 KR105_HUMAN keratin associated protein 10-5 167 22 X 5 AA repeats of C-C-X(3). keratin filament endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 14 ACTGCTGGCAGGGGGAGGAGG 0.597 103 359 --- --- --- --- CCT8L2 150160 broad.mit.edu 37 22 17071787 17071787 + Frame_Shift_Del DEL T T - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr22:17071787delT ENST00000359963.3 - 1 1913 c.1654delA c.(1654-1656)tcfs p.I552fs NM_014406.4 NP_055221.1 Q96SF2 TCPQM_HUMAN chaperonin containing TCP1, subunit 8 (theta)-like 2 552 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1) 67 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) AATCCAAGGATTTTTTTTGTT 0.408 24 95 --- --- --- --- P2RX6P 440799 broad.mit.edu 37 22 21399221 21399221 + RNA DEL C C - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr22:21399221delC ENST00000439119.1 - 0 51 NR_002829.1 CTGCAGGGCGCCCCCCCACCA 0.597 62 165 --- --- --- --- GGT5 2687 broad.mit.edu 37 22 24622210 24622210 + Frame_Shift_Del DEL C C - rs144862235 TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr22:24622210delC ENST00000327365.4 - 8 1479 c.1063delG c.(1063-1065)agfs p.E355fs GGT5_ENST00000263112.7_Frame_Shift_Del_p.E323fs|GGT5_ENST00000398292.3_Frame_Shift_Del_p.E355fs|GGT5_ENST00000418439.2_Frame_Shift_Del_p.E278fs NM_001099781.1|NM_004121.2 NP_001093251.1|NP_004112.2 P36269 GGT5_HUMAN gamma-glutamyltransferase 5 355 glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process integral to membrane|plasma membrane acyltransferase activity|gamma-glutamyltransferase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3) 28 GCCAGGGTCTCCCCCAGCAGG 0.677 33 55 --- --- --- --- GAS2L1 10634 broad.mit.edu 37 22 29707852 29707852 + Frame_Shift_Del DEL C C - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr22:29707852delC ENST00000471961.1 + 5 2459 c.1411delC c.(1411-1413)ccfs p.P472fs GAS2L1_ENST00000407854.1_Frame_Shift_Del_p.P472fs|GAS2L1_ENST00000407647.2_Frame_Shift_Del_p.P472fs|GAS2L1_ENST00000406549.3_Intron|GAS2L1_ENST00000403764.1_Frame_Shift_Del_p.P472fs|GAS2L1_ENST00000360113.2_3'UTR|GAS2L1_ENST00000341313.6_3'UTR Q99501 GA2L1_HUMAN growth arrest-specific 2 like 1 475 cell cycle arrest cytoplasm|cytoskeleton endometrium(2)|lung(2)|prostate(1) 5 GGCAGGAGCACCCCCCAGACT 0.711 8 24 --- --- --- --- SUN2 25777 broad.mit.edu 37 22 39135892 39135893 + Frame_Shift_Ins INS - - C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr22:39135892_39135893insC ENST00000405510.1 - 14 1770_1771 c.1412_1413insG c.(1411-1413)gcgfs p.A471fs SUN2_ENST00000406622.1_Frame_Shift_Ins_p.A471fs|SUN2_ENST00000216064.4_Frame_Shift_Ins_p.A471fs|SUN2_ENST00000411587.2_Frame_Shift_Ins_p.A460fs|RP3-508I15.14_ENST00000416406.1_RNA|SUN2_ENST00000405018.1_Frame_Shift_Ins_p.A492fs NM_001199580.1 NP_001186509.1 Q9UH99 SUN2_HUMAN Sad1 and UNC84 domain containing 2 471 Poly-Gly. centrosome localization|cytoskeletal anchoring at nuclear membrane|mitotic spindle organization|nuclear envelope organization|nuclear matrix anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration endosome membrane|integral to membrane|nuclear inner membrane|SUN-KASH complex lamin binding|microtubule binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1) 15 GCCCCACGCGGCCCCCTCCACC 0.619 48 247 --- --- --- --- ZC3H7B 23264 broad.mit.edu 37 22 41752381 41752382 + Frame_Shift_Ins INS - - A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr22:41752381_41752382insA ENST00000352645.4 + 21 2675_2676 c.2418_2419insA c.(2416-2421)ctaaaafs p.LK806fs ZC3H7B_ENST00000351589.4_Frame_Shift_Ins_p.LK806fs NM_017590.4 NP_060060.3 Q9UGR2 Z3H7B_HUMAN zinc finger CCCH-type containing 7B 822 interspecies interaction between organisms nucleus nucleic acid binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 38 ACATGTGGCTGAAAAAACACAA 0.589 58 231 --- --- --- --- PHF5A 84844 broad.mit.edu 37 22 41856422 41856423 + Frame_Shift_Ins INS - - T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr22:41856422_41856423insT ENST00000216252.3 - 4 383_384 c.312_313insA c.(310-315)aaacggfs p.R105fs NM_032758.3 NP_116147.1 Q7RTV0 PHF5A_HUMAN PHD finger protein 5A 105 nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent nuclear speck|U12-type spliceosomal complex|U2 snRNP DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(2)|lung(1) 4 TTGAAGCCGTATTTTTTGCGTT 0.485 18 146 --- --- --- --- XRCC6 2547 broad.mit.edu 37 22 42024155 42024155 + Frame_Shift_Del DEL T T - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr22:42024155delT ENST00000359308.4 + 2 771 c.116delT c.(115-117)atfs p.I39fs XRCC6_ENST00000405506.1_Intron|XRCC6_ENST00000360079.3_Frame_Shift_Del_p.I39fs|XRCC6_ENST00000405878.1_Frame_Shift_Del_p.I39fs|XRCC6_ENST00000402580.3_Frame_Shift_Del_p.I39fs|XRCC6_ENST00000428575.2_Intron P12956 XRCC6_HUMAN X-ray repair complementing defective repair in Chinese hamster cells 6 39 Ser-rich (potentially targets for phosphorylation). DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex 5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 31 GATAGTTTGATTTTTTTGGTT 0.333 Non-homologous end-joining 20 88 --- --- --- --- SERHL 94009 broad.mit.edu 37 22 42898666 42898666 + RNA DEL C C - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chr22:42898666delC ENST00000359906.2 + 0 409 NR_027786.1 serine hydrolase-like endometrium(1)|large_intestine(1) 2 CCATATGGTGCCCCCCCCCCA 0.592 7 9 --- --- --- --- SLC25A6 293 broad.mit.edu 37 X 1508487 1508487 + Frame_Shift_Del DEL A A - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chrX:1508487delA ENST00000381401.5 - 2 959 c.245delT c.(244-246)tcfs p.F82fs SLC25A6_ENST00000475167.1_5'UTR NM_001636.3 NP_001627.2 P12236 ADT3_HUMAN solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6 82 active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle integral to membrane|mitochondrial inner membrane presequence translocase complex ATP:ADP antiporter activity|protein binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1) 11 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Clodronate(DB00720) TTGAGTGGGGAAGTAGCGAAT 0.572 10 364 --- --- --- --- OFD1 8481 broad.mit.edu 37 X 13764946 13764946 + Frame_Shift_Del DEL A A - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chrX:13764946delA ENST00000380567.1 + 9 1154 c.282delA c.(280-282)gcfs p.A94fs OFD1_ENST00000340096.6_Frame_Shift_Del_p.A234fs|OFD1_ENST00000380550.3_Frame_Shift_Del_p.A234fs|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000398395.3_Frame_Shift_Del_p.A234fs O75665 OFD1_HUMAN oral-facial-digital syndrome 1 234 LisH. cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle centriole|cilium|cytosol|microtubule basal body|nuclear membrane alpha-tubulin binding|gamma-tubulin binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 25 AAATGGAAGCAAAAAAAAAGT 0.299 31 29 --- --- --- --- NHS 4810 broad.mit.edu 37 X 17746019 17746019 + Frame_Shift_Del DEL A A - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chrX:17746019delA ENST00000380060.3 + 6 4068 c.3730delA c.(3730-3732)aafs p.K1244fs NHS_ENST00000398097.3_Frame_Shift_Del_p.K1088fs NM_198270.2 NP_938011.1 Q6T4R5 NHS_HUMAN Nance-Horan syndrome (congenital cataracts and dental anomalies) 1244 nucleus breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 71 Hepatocellular(33;0.183) CACGCCAACCAAAAACTGTGC 0.443 46 55 --- --- --- --- XK 7504 broad.mit.edu 37 X 37587562 37587562 + Frame_Shift_Del DEL T T - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chrX:37587562delT ENST00000378616.3 + 3 1385 c.1182delT c.(1180-1182)tgfs p.C394fs TM4SF2_ENST00000465127.1_Intron NM_021083.2 NP_066569.1 P51811 XK_HUMAN X-linked Kx blood group (McLeod syndrome) 394 amino acid transport integral to membrane protein binding|transporter activity breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 15 all_lung(315;0.175) GGCTCAGGTGTTTTTGCTGGG 0.458 24 30 --- --- --- --- CLCN5 1184 broad.mit.edu 37 X 49840518 49840518 + Frame_Shift_Del DEL G G - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chrX:49840518delG ENST00000376088.3 + 7 1125 c.484delG c.(484-486)ggfs p.G163fs CLCN5_ENST00000307367.2_Frame_Shift_Del_p.G93fs|CLCN5_ENST00000376108.3_Frame_Shift_Del_p.G93fs|CLCN5_ENST00000376091.3_Frame_Shift_Del_p.G163fs NM_001127898.1|NM_001127899.1 NP_001121370.1|NP_001121371.1 P51795 CLCN5_HUMAN chloride channel, voltage-sensitive 5 93 excretion apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane antiporter activity|ATP binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1) 30 Ovarian(276;0.236) TATATGCACAGGGGGATTCTG 0.458 34 38 --- --- --- --- TSIX 9383 broad.mit.edu 37 X 73045191 73045191 + RNA DEL T T - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chrX:73045191delT ENST00000604411.1 + 0 33152 XIST_ENST00000429829.1_lincRNA NR_003255.2 GAAAGAGCACTTTTTTATGCT 0.328 16 16 --- --- --- --- XIST 7503 broad.mit.edu 37 X 73071846 73071846 + RNA DEL A A - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e11fa84c-c4e9-41bc-8b46-48be0444880a 91726c6b-a3b7-4cbc-9e8f-990a0824147e g.chrX:73071846delA ENST00000429829.1 - 0 742 NR_001564.2 ATGGGCGATGAAAAAAAAAAA 0.413 6 10 --- --- --- ---