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 ESF1 51575 broad.mit.edu 37 20 13695734 13695734 + Silent SNP C C T TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr20:13695734C>T ENST00000202816.1 - 14 2450 c.2343G>A c.(2341-2343)aaG>aaA p.K781K NM_001276380.1|NM_016649.3 NP_001263309.1|NP_057733.2 Q9H501 ESF1_HUMAN ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae) 781 Lys-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|nucleoplasm endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1) 31 CTTTTGTTTTCTTGAAATTGG 0.393000 30 56 0 0 1 0 0 SYCP2 10388 broad.mit.edu 37 20 58475848 58475848 + Missense_Mutation SNP G G A TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr20:58475848G>A ENST00000357552.3 - 17 1433 c.1208C>T c.(1207-1209)tCa>tTa p.S403L SYCP2_ENST00000371001.2_Missense_Mutation_p.S403L Q9BX26 SYCP2_HUMAN synaptonemal complex protein 2 403 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) TTTGGCAACTGAAATACCTTG 0.328000 6 25 0 0 1 0 0 GCNT2 2651 broad.mit.edu 37 6 10626777 10626777 + Silent SNP G G A TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr6:10626777G>A ENST00000379597.3 + 3 1702 c.1146G>A c.(1144-1146)ctG>ctA p.L382L GCNT2_ENST00000495262.1_Silent_p.L382L|GCNT2_ENST00000410107.1_Silent_p.L96L|GCNT2_ENST00000265012.4_Silent_p.L382L|GCNT2_ENST00000316170.3_Silent_p.L380L|GCNT2_ENST00000397423.2_3'UTR Q8N0V5 GNT2A_HUMAN glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) 382 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) GCCTAGAACTGAGGCATCGCG 0.448000 24 44 0 0 1 0 0 SBF2 81846 broad.mit.edu 37 11 9989914 9989914 + Missense_Mutation SNP C C A TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr11:9989914C>A ENST00000256190.8 - 14 1711 c.1574G>T c.(1573-1575)tGt>tTt p.C525F NM_030962.3 NP_112224.1 Q86WG5 MTMRD_HUMAN SET binding factor 2 525 myelination cytoplasm|membrane phosphatase activity|protein binding breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887) TGGCACAACACATTTCTTTTC 0.403000 16 61 2.35188e-11 2.5471e-11 1 1 0 DHX36 170506 broad.mit.edu 37 3 154022956 154022956 + Splice_Site SNP G G A TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr3:154022956G>A ENST00000496811.1 - 7 975 c.895C>T c.(895-897)Cgg>Tgg p.R299W DHX36_ENST00000329463.5_Splice_Site_p.R299W|DHX36_ENST00000308361.6_Splice_Site_p.R299W|DHX36_ENST00000544526.1_Splice_Site_p.R299W NM_020865.2 NP_065916.2 Q9H2U1 DHX36_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 36 299 Helicase ATP-binding. cytoplasm|nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1) 35 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) CTTGGCAACCGACTGTGAATG 0.353000 9 29 0 0 1 0 0 AGBL5 60509 broad.mit.edu 37 2 27275923 27275923 + Missense_Mutation SNP G G A TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr2:27275923G>A ENST00000360131.4 + 2 256 c.97G>A c.(97-99)Gaa>Aaa p.E33K AGBL5_ENST00000323064.8_Missense_Mutation_p.E33K NM_021831.5 NP_068603.4 Q8NDL9 CBPC5_HUMAN ATP/GTP binding protein-like 5 33 protein branching point deglutamylation|proteolysis cytosol|nucleus metallocarboxypeptidase activity|tubulin binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1) 28 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CAGTGATGGGGAAGGGGTAGG 0.562000 15 42 0 0 1 0 0 FLNB 2317 broad.mit.edu 37 3 57994582 57994582 + Splice_Site SNP C C T TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr3:57994582C>T ENST00000357272.4 + 1 456 c.291C>T c.(289-291)atC>atT p.I97I FLNB_ENST00000490882.1_Splice_Site_p.I97I|FLNB_ENST00000295956.4_Splice_Site_p.I97I|FLNB_ENST00000358537.3_Splice_Site_p.I97I|FLNB_ENST00000429972.2_Splice_Site_p.I97I|FLNB_ENST00000348383.5_Splice_Site_p.I97I O75369 FLNB_HUMAN filamin B, beta 97 Actin-binding.|CH 1. 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) TCGTGTCCATCGGTGAGTTCT 0.682000 37 63 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179411584 179411584 + Missense_Mutation SNP G G A TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr2:179411584G>A ENST00000589042.1 - 341 94795 c.94571C>T c.(94570-94572)tCa>tTa p.S31524L TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S29883L|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S22584L|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S22651L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S28956L|TTN_ENST00000460472.2_Missense_Mutation_p.S22459L|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 29883 Ig-like 140. 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) CCAAATCAGTGATACTGTTGA 0.488000 6 16 0 0 1 0 0 SPTBN1 6711 broad.mit.edu 37 2 54859866 54859866 + Nonsense_Mutation SNP C C G TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr2:54859866C>G ENST00000333896.5 + 16 4074 c.3689C>G c.(3688-3690)tCa>tGa p.S1230* SPTBN1_ENST00000356805.4_Nonsense_Mutation_p.S1243* NM_178313.2 NP_842565.2 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 1243 actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 82 Lung(47;0.24) AACATCAACTCAGATCGCATC 0.512000 15 15 0 0 1 0 0 AP3B2 8120 broad.mit.edu 37 15 83349453 83349453 + Missense_Mutation SNP C C T TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr15:83349453C>T ENST00000261722.3 - 8 1033 c.826G>A c.(826-828)Gag>Aag p.E276K RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535348.1_Missense_Mutation_p.E244K|AP3B2_ENST00000535359.1_Missense_Mutation_p.E276K NM_004644.3 NP_004635.2 Q13367 AP3B2_HUMAN adaptor-related protein complex 3, beta 2 subunit 276 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat binding|protein transporter activity breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(143;0.229) CCCTTGGCCTCGTCCTCCTCT 0.682000 5 12 0 0 1 0 0 MAP3K1 4214 broad.mit.edu 37 5 56152511 56152511 + Silent SNP G G A TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr5:56152511G>A ENST00000399503.3 + 2 567 c.567G>A c.(565-567)ctG>ctA p.L189L AC008937.2_ENST00000415589.1_RNA NM_005921.1 NP_005912.1 Q13233 M3K1_HUMAN mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase 189 L -> P (in SRXY6; increases phosphorylation of the downstream target MAPK3/MAPK1 compared to wild-type and enhances binding of RHOA to the mutant MAP3K1 complex).|L -> R (in SRXY6; increases phosphorylation of the downstream targets MAPK14 and MAPK3/MAPK1 compared to wild- type and enhances binding of RHOA to the mutant MAP3K1 complex). 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) GGGAGAAACTGAAGGCAACCT 0.473000 8 65 0 0 1 0 0 CROCC 9696 broad.mit.edu 37 1 17272075 17272075 + Missense_Mutation SNP G G A rs2781608 by1000genomes TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr1:17272075G>A ENST00000375541.5 + 15 2179 c.2110G>A c.(2110-2112)Gcc>Acc p.A704T CROCC_ENST00000467938.1_3'UTR NM_014675.3 NP_055490.3 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil, rootletin 704 cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity p.A704T(11) 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) GGCCGAGAAGGCCGAGGTGGC 0.657000 3 15 0 0 1 0 0 TSPAN12 23554 broad.mit.edu 37 7 120446675 120446675 + Silent SNP G G A TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr7:120446675G>A ENST00000222747.3 - 7 1147 c.540C>T c.(538-540)tcC>tcT p.S180S TSPAN12_ENST00000415871.1_Silent_p.S180S NM_012338.3 NP_036470.1 O95859 TSN12_HUMAN tetraspanin 12 180 angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation integral to plasma membrane|membrane fraction endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1) 10 all_neural(327;0.117) TAACACAGCAGGAATCTGGGG 0.433000 10 64 0 0 1 0 0 NUP155 9631 broad.mit.edu 37 5 37292016 37292016 + Missense_Mutation SNP C C G TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr5:37292016C>G ENST00000231498.3 - 35 4365 c.4162G>C c.(4162-4164)Gaa>Caa p.E1388Q NUP155_ENST00000513532.1_Missense_Mutation_p.E1324Q|NUP155_ENST00000381843.2_Missense_Mutation_p.E1329Q|NUP155_ENST00000502533.1_5'UTR NM_153485.1 NP_705618.1 O75694 NU155_HUMAN nucleoporin 155kDa 1388 carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore protein binding|structural constituent of nuclear pore|transporter activity endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 62 all_lung(31;0.000137) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TGAAGCCGTTCTAATTTAGCT 0.378000 14 294 0 0 1 0 0 NAT10 55226 broad.mit.edu 37 11 34139948 34139948 + Missense_Mutation SNP G G C TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr11:34139948G>C ENST00000257829.3 + 8 884 c.678G>C c.(676-678)gaG>gaC p.E226D NAT10_ENST00000527971.1_Missense_Mutation_p.E226D|NAT10_ENST00000531159.2_Missense_Mutation_p.E154D NM_024662.2 NP_078938 Q9H0A0 NAT10_HUMAN N-acetyltransferase 10 (GCN5-related) 226 nucleolus ATP binding|N-acetyltransferase activity|protein binding endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231) GGTAGGATGAGAGTCTTGGTC 0.552000 3 21 0 0 1 0 0 PPM1K 152926 broad.mit.edu 37 4 89186255 89186255 + Silent SNP G G A TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr4:89186255G>A ENST00000608933.1 - 6 1274 c.885C>T c.(883-885)ctC>ctT p.L295L PPM1K_ENST00000295908.7_Intron|PPM1K_ENST00000508256.1_Silent_p.L76L NM_152542.4 NP_689755.3 Q8N3J5 PPM1K_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1K PP2C-like. protein dephosphorylation mitochondrial matrix|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1) 13 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000192) CATCTGTGGTGAGGACCAGGA 0.438000 24 58 0 0 1 0 0 KIAA1279 26128 broad.mit.edu 37 10 70764810 70764810 + Missense_Mutation SNP T T A TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr10:70764810T>A ENST00000361983.4 + 3 636 c.534T>A c.(532-534)agT>agA p.S178R NM_015634.3 NP_056449.1 Q96EK5 KBP_HUMAN KIAA1279 178 cell differentiation|mitochondrial transport|nervous system development mitochondrion kinesin binding breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1) 14 AGGTTGGGAGTCCTCCTCTTG 0.398000 11 23 0 0 1 0 0 CR2 1380 broad.mit.edu 37 1 207643300 207643300 + Nonsense_Mutation SNP C C T TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr1:207643300C>T ENST00000367057.3 + 6 1267 c.1078C>T c.(1078-1080)Cga>Tga p.R360* CR2_ENST00000367059.3_Nonsense_Mutation_p.R360*|CR2_ENST00000458541.2_Nonsense_Mutation_p.R360*|CR2_ENST00000367058.3_Nonsense_Mutation_p.R360* NM_001006658.2 NP_001006659.1 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) receptor 2 360 Sushi 6. 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 CCTAAGAGGCCGAATGGTATC 0.498000 10 42 0 0 1 0 0 IGLV11-55 28770 broad.mit.edu 37 22 22556412 22556412 + RNA SNP G G C TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr22:22556412G>C ENST00000390286.2 + 0 238 CTCAGACTCAGACAAGCAGCT 0.542000 OREG0026354 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 22 94 0 0 1 0 0 PHF3 23469 broad.mit.edu 37 6 64356520 64356520 + Silent SNP C C T TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr6:64356520C>T ENST00000262043.3 + 2 404 c.64C>T c.(64-66)Cta>Tta p.L22L PHF3_ENST00000393387.1_Silent_p.L22L|PHF3_ENST00000509330.1_Silent_p.L22L Q92576 PHF3_HUMAN PHD finger protein 3 22 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6) 75 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) TGCCCTATTTCTAGGATCCAA 0.388000 15 47 0 0 1 0 0 ALOX15B 247 broad.mit.edu 37 17 7951144 7951144 + Missense_Mutation SNP G G C TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr17:7951144G>C ENST00000380183.4 + 13 1901 c.1762G>C c.(1762-1764)Gag>Cag p.E588Q ALOX15B_ENST00000380173.2_Missense_Mutation_p.E559Q|ALOX15B_ENST00000573359.1_Missense_Mutation_p.E514Q|ALOX15B_ENST00000572022.1_Missense_Mutation_p.E576Q NM_001141.2 NP_001132.2 O15296 LX15B_HUMAN arachidonate 15-lipoxygenase, type B 588 Lipoxygenase. induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation cytoplasm arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 24 GGCAACATGCGAGGGCTTCAT 0.592000 14 7 0 0 1 0 0 MAGI2 9863 broad.mit.edu 37 7 77885404 77885404 + Missense_Mutation SNP G G C TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr7:77885404G>C ENST00000354212.4 - 10 2156 c.1903C>G c.(1903-1905)Cag>Gag p.Q635E MAGI2_ENST00000522391.1_Missense_Mutation_p.Q635E|MAGI2_ENST00000536571.1_Missense_Mutation_p.Q467E|MAGI2_ENST00000419488.1_Missense_Mutation_p.Q635E|MAGI2_ENST00000535697.1_Missense_Mutation_p.Q472E NM_012301.3 NP_036433.2 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 2 635 PDZ 3. 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) GGGCATCCCTGAATGTCAAGT 0.478000 12 15 0 0 1 0 0 TIMP2 7077 broad.mit.edu 37 17 76853720 76853720 + Missense_Mutation SNP C C T TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr17:76853720C>T ENST00000262768.7 - 4 647 c.349G>A c.(349-351)Gag>Aag p.E117K TIMP2_ENST00000586057.1_Missense_Mutation_p.E40K|TIMP2_ENST00000585421.1_Missense_Mutation_p.E40K|TIMP2_ENST00000536189.2_Missense_Mutation_p.E40K NM_003255.4 NP_003246.1 P16035 TIMP2_HUMAN TIMP metallopeptidase inhibitor 2 117 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) CCGTCCCCCTCGGCCTTTCCT 0.627000 11 20 0 0 1 0 0 PDILT 204474 broad.mit.edu 37 16 20384169 20384169 + Silent SNP G G A TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr16:20384169G>A ENST00000302451.4 - 7 1121 c.873C>T c.(871-873)atC>atT p.I291I NM_174924.1 NP_777584.1 Q8N807 PDILT_HUMAN protein disulfide isomerase-like, testis expressed 291 cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis endoplasmic reticulum isomerase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1) 61 GCTGAATTATGATACCATATG 0.428000 19 60 0 0 1 0 0 MMP20 9313 broad.mit.edu 37 11 102464205 102464205 + Silent SNP C C T TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr11:102464205C>T ENST00000260228.2 - 8 1224 c.1212G>A c.(1210-1212)caG>caA p.Q404Q NM_004771.3 NP_004762.2 O60882 MMP20_HUMAN matrix metallopeptidase 20 404 Hemopexin-like 3. proteolysis|regulation of enamel mineralization extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033) Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13) BRCA - Breast invasive adenocarcinoma(274;0.0161) AAAGGGTCTTCTGTGGCTCCC 0.383000 14 43 0 0 1 0 0 ACAN 176 broad.mit.edu 37 15 89402183 89402183 + Missense_Mutation SNP G G C TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr15:89402183G>C ENST00000439576.2 + 12 6741 c.6367G>C c.(6367-6369)Gat>Cat p.D2123H ACAN_ENST00000561243.1_Missense_Mutation_p.D2123H|ACAN_ENST00000559004.1_Missense_Mutation_p.D2123H|ACAN_ENST00000352105.7_Missense_Mutation_p.D2123H NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 2123 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) CAGCAGAGAAGATTCTGGGTC 0.547000 6 30 0 0 1 0 0 OR10G7 390265 broad.mit.edu 37 11 123909464 123909464 + Missense_Mutation SNP G G A TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr11:123909464G>A ENST00000330487.5 - 1 253 c.245C>T c.(244-246)aCc>aTc p.T82I NM_001004463.1 NP_001004463.1 Q8NGN6 O10G7_HUMAN olfactory receptor, family 10, subfamily G, member 7 82 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1) 47 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;0.0521) GGACACCAAGGTCATCAGCAT 0.532000 7 99 0 0 1 0 0 IGLV3-10 28803 broad.mit.edu 37 22 23154763 23154763 + RNA SNP G G C TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr22:23154763G>C ENST00000390315.2 + 0 367 TCAACAGACAGCAGTGGTAAT 0.532000 19 17 0 0 1 0 0 MED13L 23389 broad.mit.edu 37 12 116420374 116420374 + Missense_Mutation SNP C C T TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr12:116420374C>T ENST00000281928.3 - 22 5196 c.4990G>A c.(4990-4992)Gag>Aag p.E1664K NM_015335.4 NP_056150.1 Q71F56 MD13L_HUMAN mediator complex subunit 13-like 1664 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 85 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0407) GAGTCAGGCTCCGTGGGAATT 0.463000 8 29 0 0 1 0 0 ERI2 112479 broad.mit.edu 37 16 20792027 20792027 + Missense_Mutation SNP C C G TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr16:20792027C>G ENST00000300005.3 - 11 966 c.924G>C c.(922-924)agG>agC p.R308S ACSM3_ENST00000450120.2_Intron|ACSM3_ENST00000440284.2_Intron|ACSM3_ENST00000289416.5_Intron NM_080663.2 NP_542394.2 A8K979 ERI2_HUMAN ERI1 exoribonuclease family member 2 0 intracellular exonuclease activity|nucleic acid binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(2) 11 TGTAGTTTTTCCTTTGCAGAC 0.408000 41 69 0 0 1 0 0 CCDC92 80212 broad.mit.edu 37 12 124421823 124421823 + Missense_Mutation SNP C C T TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr12:124421823C>T ENST00000545135.1 - 3 4023 c.727G>A c.(727-729)Gag>Aag p.E243K CCDC92_ENST00000545891.1_Missense_Mutation_p.E243K|CCDC92_ENST00000544798.1_Intron|CCDC92_ENST00000238156.3_Missense_Mutation_p.E260K Q53HC0 CCD92_HUMAN coiled-coil domain containing 92 260 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) AGGGGCCTCTCTTTGATGAGG 0.652000 6 35 0 0 1 0 0 MUSK 4593 broad.mit.edu 37 9 113530256 113530256 + Silent SNP G G C TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr9:113530256G>C ENST00000416899.2 + 8 1203 c.1077G>C c.(1075-1077)ctG>ctC p.L359L MUSK_ENST00000189978.5_Silent_p.L359L|MUSK_ENST00000374448.4_Silent_p.L359L O15146 MUSK_HUMAN muscle, skeletal, receptor tyrosine kinase 359 FZ. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 49 GGAATGAACTGAAAGTAGTGA 0.537000 22 37 0 0 1 0 0 GRAMD1C 54762 broad.mit.edu 37 3 113601646 113601646 + Missense_Mutation SNP C C G TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr3:113601646C>G ENST00000358160.4 + 6 999 c.507C>G c.(505-507)atC>atG p.I169M GRAMD1C_ENST00000452134.2_5'UTR|GRAMD1C_ENST00000479212.1_3'UTR NM_017577.4 NP_060047.3 Q8IYS0 GRM1C_HUMAN GRAM domain containing 1C 169 integral to membrane NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3) 26 ACCTCAGTATCTTTAGGTTGT 0.343000 19 58 0 0 1 0 0 AMMECR1 9949 broad.mit.edu 37 X 109445721 109445721 + Missense_Mutation SNP C C G TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chrX:109445721C>G ENST00000262844.5 - 4 910 c.743G>C c.(742-744)gGa>gCa p.G248A AMMECR1_ENST00000372057.1_Missense_Mutation_p.G125A|AMMECR1_ENST00000372059.2_Missense_Mutation_p.G211A NM_015365.2 NP_056180.1 Q9Y4X0 AMER1_HUMAN Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1 248 AMMECR1. large_intestine(1)|lung(4)|ovary(1)|stomach(1) 7 GCGTTTTGATCCTTTTTCATT 0.358000 13 20 0 0 1 0 0 HRNR 388697 broad.mit.edu 37 1 152190863 152190863 + Missense_Mutation SNP G G C TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr1:152190863G>C ENST00000368801.2 - 3 3317 c.3242C>G c.(3241-3243)tCt>tGt p.S1081C FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 1081 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) TCCTGATGTAGAACCGTGTTG 0.557000 113 327 0 0 1 0 0 ABCB6 10058 broad.mit.edu 37 2 220075192 220075192 + Silent SNP C C T TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr2:220075192C>T ENST00000265316.3 - 17 2578 c.2262G>A c.(2260-2262)acG>acA p.T754T ABCB6_ENST00000439002.2_Silent_p.T708T NM_005689.2 NP_005680.1 Q9NP58 ABCB6_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 6 754 ABC transporter. cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 34 Renal(207;0.0474) Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCAGCGCTGACGTTGCCTATA 0.542000 8 19 0 0 1 0 0 LRRC40 55631 broad.mit.edu 37 1 70611554 70611554 + Missense_Mutation SNP G G A TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr1:70611554G>A ENST00000370952.3 - 15 1817 c.1738C>T c.(1738-1740)Cct>Tct p.P580S NM_017768.4 NP_060238.3 Q9H9A6 LRC40_HUMAN leucine rich repeat containing 40 580 p.P580T(1) breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2) 27 GCTGCTCGAGGAACTCGGAAT 0.348000 6 40 0 0 1 0 0 LOC647264 647264 broad.mit.edu 37 13 64321060 64321060 + Missense_Mutation SNP G G T TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr13:64321060G>T ENST00000453638.2 + 1 127 c.127G>T c.(127-129)Ggc>Tgc p.G43C endometrium(2)|lung(1)|urinary_tract(1) 4 ctacagctgtggctatggctg 0.557000 10 19 0.00621372 0.0062825 1 1 0 USP32 84669 broad.mit.edu 37 17 58365912 58365912 + Silent SNP G G A TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr17:58365912G>A ENST00000300896.4 - 5 737 c.543C>T c.(541-543)ttC>ttT p.F181F USP32_ENST00000393003.3_Silent_p.F181F NM_032582.3 NP_115971.2 Q8NFA0 UBP32_HUMAN ubiquitin specific peptidase 32 181 protein deubiquitination|ubiquitin-dependent protein catabolic process Golgi apparatus|membrane calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1) 62 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198) GAGTTTGGTAGAAAGTAGGAG 0.348000 21 63 0 0 1 0 0 TFRC 7037 broad.mit.edu 37 3 195778984 195778984 + Silent SNP G G A rs146993606 by1000genomes TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr3:195778984G>A ENST00000360110.4 - 19 2281 c.2112C>T c.(2110-2112)tcC>tcT p.S704S TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000535031.1_Silent_p.S422S|TFRC_ENST00000420415.1_Silent_p.S623S|TFRC_ENST00000392396.3_Silent_p.S704S NM_001128148.1 NP_001121620.1 P02786 TFR1_HUMAN transferrin receptor 704 Ligand-binding. 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) TGTGAGAGCCGGAGCCCCAGA 0.463000 T BCL6 NHL 7 32 0 0 1 0 0 UNC50 25972 broad.mit.edu 37 2 99226441 99226441 + Silent SNP G G A TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr2:99226441G>A ENST00000409975.1 + 1 1400 c.270G>A c.(268-270)acG>acA p.T90T UNC50_ENST00000357765.2_Silent_p.T73T|UNC50_ENST00000409347.1_Silent_p.T90T Q53HI1 UNC50_HUMAN unc-50 homolog (C. elegans) 73 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 GAAAACAGACGAAGGACCAGT 0.453000 10 55 0 0 1 0 0 EPHA5 2044 broad.mit.edu 37 4 66286164 66286164 + Missense_Mutation SNP C C T TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr4:66286164C>T ENST00000273854.3 - 6 2122 c.1522G>A c.(1522-1524)Gaa>Aaa p.E508K EPHA5_ENST00000354839.4_Missense_Mutation_p.E508K|EPHA5_ENST00000432638.2_Missense_Mutation_p.E344K|EPHA5_ENST00000511294.1_Missense_Mutation_p.E508K NM_001281765.1|NM_004439.5 NP_001268694.1|NP_004430.4 P54756 EPHA5_HUMAN EPH receptor A5 508 Fibronectin type-III 2. cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 142 CTTACCTTTTCAAAATACTTG 0.323000 TSP Lung(17;0.13) 16 33 0 0 1 0 0 PDCD4 27250 broad.mit.edu 37 10 112641255 112641255 + Missense_Mutation SNP G G A TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr10:112641255G>A ENST00000393104.2 + 4 635 c.275G>A c.(274-276)cGa>cAa p.R92Q PDCD4_ENST00000280154.7_Missense_Mutation_p.R103Q NM_145341.3 NP_663314.1 Q53EL6 PDCD4_HUMAN programmed cell death 4 (neoplastic transformation inhibitor) 103 apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent cytosol|nucleus protein binding|RNA binding breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 13 Breast(234;0.0848)|Lung NSC(174;0.238) Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125) CTGGATAGGCGATCCAGATCT 0.473000 10 25 0 0 1 0 0 CDKN1A 1026 broad.mit.edu 37 6 36651906 36651906 + Nonsense_Mutation SNP C C T TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr6:36651906C>T ENST00000405375.1 + 2 263 c.28C>T c.(28-30)Cag>Tag p.Q10* CDKN1A_ENST00000478800.1_3'UTR|CDKN1A_ENST00000244741.5_Nonsense_Mutation_p.Q10*|CDKN1A_ENST00000373711.2_Nonsense_Mutation_p.Q10*|CDKN1A_ENST00000448526.2_Nonsense_Mutation_p.Q44* NM_001220778.1 NP_001207707.1 P38936 CDN1A_HUMAN cyclin-dependent kinase inhibitor 1A (p21, Cip1) 10 cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5) 15 GGATGTCCGTCAGAACCCATG 0.637000 4 5 0 0 1 0 0 ZNF292 23036 broad.mit.edu 37 6 87966033 87966033 + Missense_Mutation SNP G G A TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr6:87966033G>A ENST00000369577.3 + 8 2729 c.2686G>A c.(2686-2688)Gaa>Aaa p.E896K ZNF292_ENST00000339907.4_Missense_Mutation_p.E891K NM_015021.1 NP_055836.1 O60281 ZN292_HUMAN zinc finger protein 292 896 E -> V (in Ref. 3; BAB14622). 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) AAGCAAAGCAGAATCAGCTGT 0.403000 10 23 0 0 1 0 0 NAT10 55226 broad.mit.edu 37 11 34160786 34160786 + Missense_Mutation SNP G G A TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr11:34160786G>A ENST00000257829.3 + 22 2466 c.2260G>A c.(2260-2262)Gat>Aat p.D754N NAT10_ENST00000527971.1_Intron|NAT10_ENST00000531159.2_Missense_Mutation_p.D682N NM_024662.2 NP_078938 Q9H0A0 NAT10_HUMAN N-acetyltransferase 10 (GCN5-related) 754 Required for localization to the nucleolus and midbody. nucleolus ATP binding|N-acetyltransferase activity|protein binding endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231) GACGCTCACTGATGAGGATGA 0.542000 32 55 0 0 1 0 0 WDR63 126820 broad.mit.edu 37 1 85587495 85587495 + Missense_Mutation SNP T T C TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr1:85587495T>C ENST00000294664.6 + 18 2159 c.1979T>C c.(1978-1980)aTg>aCg p.M660T WDR63_ENST00000370596.1_Missense_Mutation_p.M621T|WDR63_ENST00000326813.8_Missense_Mutation_p.M621T NM_145172.3 NP_660155.2 Q8IWG1 WDR63_HUMAN WD repeat domain 63 660 NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3) 36 all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166) GGCCGACTTATGTGTAAGTTT 0.378000 30 22 0 0 1 0 0 MYOM2 9172 broad.mit.edu 37 8 2046709 2046709 + Nonsense_Mutation SNP C C G TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr8:2046709C>G ENST00000262113.4 + 19 2477 c.2336C>G c.(2335-2337)tCa>tGa p.S779* MYOM2_ENST00000523438.1_Nonsense_Mutation_p.S204* NM_003970.2 NP_003961.2 P54296 MYOM2_HUMAN myomesin 2 779 Fibronectin type-III 4. muscle contraction myosin filament structural constituent of muscle autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3) 104 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) ACGGAAGGCTCACTCTACGAG 0.522000 6 15 0 0 1 0 0 TNPO3 23534 broad.mit.edu 37 7 128640575 128640575 + Missense_Mutation SNP G G A TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr7:128640575G>A ENST00000393245.1 - 7 1292 c.919C>T c.(919-921)Ctt>Ttt p.L307F TNPO3_ENST00000471234.1_Missense_Mutation_p.L307F|TNPO3_ENST00000265388.5_Missense_Mutation_p.L307F|TNPO3_ENST00000471166.1_Missense_Mutation_p.L307F|TNPO3_ENST00000482320.1_Missense_Mutation_p.L241F NM_012470.3 NP_036602.1 Q9Y5L0 TNPO3_HUMAN transportin 3 307 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 ATTTTTTCAAGAAAAGTTTCA 0.413000 12 58 0 0 1 0 0 ZER1 10444 broad.mit.edu 37 9 131495738 131495738 + Missense_Mutation SNP G G A rs145832178 TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr9:131495738G>A ENST00000291900.2 - 15 2616 c.2210C>T c.(2209-2211)gCg>gTg p.A737V NM_006336.2 NP_006327.2 Q7Z7L7 ZER1_HUMAN zyg-11 related, cell cycle regulator 737 ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 15 CCGTGCGGTCGCCATCTTAAT 0.567000 OREG0019523 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 55 0 0 1 0 0 CCDC158 339965 broad.mit.edu 37 4 77288711 77288711 + Silent SNP G G A TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr4:77288711G>A ENST00000388914.3 - 11 1718 c.1566C>T c.(1564-1566)ctC>ctT p.L522L NM_001042784.1 NP_001036249.1 Q5M9N0 CD158_HUMAN coiled-coil domain containing 158 522 breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1) 56 CCCGGGAGCGGAGCTTTGTGA 0.498000 8 50 0 0 1 0 0 ABCA2 20 broad.mit.edu 37 9 139907183 139907183 + Missense_Mutation SNP C C T TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr9:139907183C>T ENST00000265662.5 - 31 5209 c.5062G>A c.(5062-5064)Gac>Aac p.D1688N ABCA2_ENST00000341511.6_Missense_Mutation_p.D1688N|ABCA2_ENST00000371605.3_Missense_Mutation_p.D1687N Q9BZC7 ABCA2_HUMAN ATP-binding cassette, sub-family A (ABC1), member 2 1687 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) CGGAAGCGGTCGGAGGTGAAG 0.657000 10 42 0 0 1 0 0 KIR3DL1 3811 broad.mit.edu 37 19 55341433 55341433 + Missense_Mutation SNP G G A TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr19:55341433G>A ENST00000391728.4 + 8 1189 c.1156G>A c.(1156-1158)Gag>Aag p.E386K KIR3DL1_ENST00000358178.4_Missense_Mutation_p.E291K|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.E386K|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.E369K|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.E369K NM_013289.2 NP_037421.2 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 11 GBM - Glioblastoma multiforme(193;0.0192) AGCCAACAGCGAGGTAGGTGC 0.562000 4 104 0 0 1 0 0 ARL11 115761 broad.mit.edu 37 13 50204623 50204623 + Nonsense_Mutation SNP C C T TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr13:50204623C>T ENST00000282026.1 + 2 375 c.40C>T c.(40-42)Cag>Tag p.Q14* ARL11_ENST00000490932.1_Intron NM_138450.5 NP_612459.1 Q969Q4 ARL11_HUMAN ADP-ribosylation factor-like 11 14 small GTPase mediated signal transduction intracellular GTP binding|protein binding kidney(1)|large_intestine(4)|ovary(1) 6 Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.119)|Kidney(9;0.169) GBM - Glioblastoma multiforme(99;1.67e-09) GGCGGAAGCCCAGGTGGTGAT 0.582000 10 39 0 0 1 0 0 HBQ1 3049 broad.mit.edu 37 16 231052 231052 + Missense_Mutation SNP C C T TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr16:231052C>T ENST00000199708.2 + 3 408 c.374C>T c.(373-375)tCg>tTg p.S125L NM_005331.4 NP_005322.1 P09105 HBAT_HUMAN hemoglobin, theta 1 125 hemoglobin complex heme binding|oxygen binding|oxygen transporter activity large_intestine(1) 1 all_cancers(16;2.03e-06)|all_epithelial(16;5.16e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0138)|all_lung(18;0.0306) CTGCAGGCGTCGCTGGACAAG 0.682000 8 29 0 0 1 0 0 FGF12 2257 broad.mit.edu 37 3 191861852 191861852 + Silent SNP A A G TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr3:191861852A>G ENST00000445105.2 - 6 737 c.492T>C c.(490-492)agT>agC p.S164S FGF12_ENST00000264730.3_Silent_p.S164S|FGF12_ENST00000430714.1_Silent_p.S127S|FGF12_ENST00000450716.1_Silent_p.S164S|FGF12_ENST00000454309.2_Silent_p.S226S NM_004113.5 NP_004104.3 P61328 FGF12_HUMAN fibroblast growth factor 12 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) GTGTTCCAGAACTTTTCCTTG 0.418000 21 131 0 0 1 0 0 CASP5 838 broad.mit.edu 37 11 104872911 104872911 + Missense_Mutation SNP C C G TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr11:104872911C>G ENST00000393141.2 - 5 631 c.600G>C c.(598-600)aaG>aaC p.K200N CASP5_ENST00000531367.1_Missense_Mutation_p.K45N|CASP5_ENST00000260315.3_Missense_Mutation_p.K187N|CASP5_ENST00000526056.1_Missense_Mutation_p.K200N|CASP5_ENST00000393139.2_Missense_Mutation_p.E118Q|CASP5_ENST00000418434.1_Missense_Mutation_p.K45N|CASP5_ENST00000444749.2_Missense_Mutation_p.K129N NM_001136112.1|NM_004347.3 NP_001129584.1|NP_004338.3 P51878 CASP5_HUMAN caspase 5, apoptosis-related cysteine peptidase 187 apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis intracellular cysteine-type endopeptidase activity|protein binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1) 35 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042) GGTCCTCTCTCTTTTTTATTG 0.443000 13 31 0 0 1 0 0 SMARCA5 8467 broad.mit.edu 37 4 144464670 144464670 + Missense_Mutation SNP G G C TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr4:144464670G>C ENST00000283131.3 + 15 2374 c.1912G>C c.(1912-1914)Gtg>Ctg p.V638L NM_003601.3 NP_003592.3 O60264 SMCA5_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 638 Helicase C-terminal. CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding EWSR1/SMARCA5(2) endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_hematologic(180;0.158) AGGGAGGCTTGTGGATCAGAA 0.328000 12 27 0 0 1 0 0 RGPD3 653489 broad.mit.edu 37 2 107049631 107049631 + Silent SNP C C T TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr2:107049631C>T ENST00000409886.3 - 16 2403 c.2316G>A c.(2314-2316)gcG>gcA p.A772A RGPD3_ENST00000304514.7_Silent_p.A772A NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 772 intracellular transport binding p.A772A(4) breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 TTTCTGAATCCGCATTTCGCA 0.373000 6 169 0 0 1 0 0 VSX1 30813 broad.mit.edu 37 20 25059420 25059420 + Silent SNP G G A TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr20:25059420G>A ENST00000376707.3 - 3 706 c.672C>T c.(670-672)aaC>aaT p.N224N VSX1_ENST00000376709.4_Intron|VSX1_ENST00000444511.2_Intron|VSX1_ENST00000451258.1_Intron|VSX1_ENST00000429762.3_Intron|VSX1_ENST00000424574.1_Intron NM_199425.2 NP_955457.1 Q9NZR4 VSX1_HUMAN visual system homeobox 1 0 CVC. response to stimulus|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(3)|lung(2) 6 GGAATGACACGTTCTCTGTGG 0.522000 21 95 0 0 1 0 0 SNAPIN 23557 broad.mit.edu 37 1 153633684 153633684 + Silent SNP G G A TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr1:153633684G>A ENST00000368685.5 + 4 408 c.318G>A c.(316-318)ctG>ctA p.L106L SNAPIN_ENST00000478558.1_3'UTR NM_012437.5 NP_036569.1 O95295 SNAPN_HUMAN SNAP-associated protein 106 intracellular protein transport|synaptic vesicle exocytosis BLOC-1 complex|cell junction|perinuclear region of cytoplasm|synaptic vesicle membrane|synaptosome SNARE binding lung(3) 3 all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) AGGAACGACTGAGACGGCTAA 0.493000 3 33 0 0 1 0 0 C12orf40 283461 broad.mit.edu 37 12 40076597 40076597 + Missense_Mutation SNP C C A TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr12:40076597C>A ENST00000324616.5 + 8 1025 c.871C>A c.(871-873)Ctt>Att p.L291I C12orf40_ENST00000398716.1_Missense_Mutation_p.L214I|C12orf40_ENST00000405531.3_Missense_Mutation_p.L291I NM_001031748.2 NP_001026918.2 Q86WS4 CL040_HUMAN chromosome 12 open reading frame 40 291 breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2) 38 TACTCCTAACCTTCTATCAGA 0.313000 11 48 0.00010058 0.000102832 1 1 0 MGAM 8972 broad.mit.edu 37 7 141750572 141750572 + Missense_Mutation SNP C C T TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr7:141750572C>T ENST00000475668.2 + 24 2767 c.2713C>T c.(2713-2715)Ctt>Ttt p.L905F MGAM_ENST00000549489.2_Missense_Mutation_p.L905F O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 905 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) GATTAAAATTCTTGGGACGGA 0.383000 19 40 0 0 1 0 0 LRPPRC 10128 broad.mit.edu 37 2 44209439 44209439 + Missense_Mutation SNP C C G TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr2:44209439C>G ENST00000260665.7 - 2 341 c.284G>C c.(283-285)cGa>cCa p.R95P LRPPRC_ENST00000409946.1_Missense_Mutation_p.R95P|LRPPRC_ENST00000409659.1_Missense_Mutation_p.R95P NM_133259.3 NP_573566.2 P42704 LPPRC_HUMAN leucine-rich pentatricopeptide repeat containing 95 mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm beta-tubulin binding|microtubule binding|RNA binding breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2) 41 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) GCCAGTTCTTCGAACAGAAAG 0.378000 8 55 0 0 1 0 0 CAMK1 8536 broad.mit.edu 37 3 9802407 9802407 + Silent SNP G G C TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr3:9802407G>C ENST00000256460.3 - 8 855 c.678C>G c.(676-678)ctC>ctG p.L226L OGG1_ENST00000449570.2_Intron|OGG1_ENST00000349503.5_Intron|OGG1_ENST00000383826.5_Intron|OGG1_ENST00000302008.8_Intron|OGG1_ENST00000302036.7_Intron NM_003656.4 NP_003647.1 Q14012 KCC1A_HUMAN calcium/calmodulin-dependent protein kinase I 226 Protein kinase. cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction cytoplasm|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1) 12 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.0475) TCTGTTCAAAGAGTTTGGCAT 0.527000 6 56 0 0 1 0 0 FAT1 2195 broad.mit.edu 37 4 187524060 187524060 + Missense_Mutation SNP G G A TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr4:187524060G>A ENST00000441802.2 - 20 11688 c.11479C>T c.(11479-11481)Cca>Tca p.P3827S NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 3827 EGF-like 1. 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 CTCTCACCTGGGCACTGACCA 0.433000 HNSCC(5;0.00058) 10 30 0 0 1 0 0 MRPL40 64976 broad.mit.edu 37 22 19422283 19422283 + Silent SNP G G A TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr22:19422283G>A ENST00000333130.3 + 3 815 c.162G>A c.(160-162)aaG>aaA p.K54K MRPL40_ENST00000443660.1_3'UTR|HIRA_ENST00000546308.1_Intron|HIRA_ENST00000541063.1_Intron NM_003776.2 NP_003767.2 Q9NQ50 RM40_HUMAN mitochondrial ribosomal protein L40 54 anatomical structure morphogenesis mitochondrial ribosome|nucleus endometrium(1)|upper_aerodigestive_tract(1) 2 Colorectal(54;0.0993) GAAAAAAGAAGAAGGTAGATC 0.368000 11 39 0 0 1 0 0 F10 2159 broad.mit.edu 37 13 113783854 113783854 + Silent SNP C C T TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr13:113783854C>T ENST00000375559.3 + 2 197 c.159C>T c.(157-159)ctC>ctT p.L53L F10_ENST00000483537.1_3'UTR|F10_ENST00000409306.1_Silent_p.L53L|F10_ENST00000375551.3_Silent_p.L53L NM_000504.3 NP_000495.1 P00742 FA10_HUMAN coagulation factor X 53 Gla. blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1) 18 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;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188) all cancers(43;0.0805)|Epithelial(84;0.231) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031) AAGGACACCTCGAAAGAGAGT 0.562000 17 46 0 0 1 0 0 NHP2 55651 broad.mit.edu 37 5 177577916 177577916 + Missense_Mutation SNP C C A TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr5:177577916C>A ENST00000274606.3 - 3 458 c.309G>T c.(307-309)ttG>ttT p.L103F NHP2_ENST00000314397.4_Intron NM_017838.3 NP_060308.1 Q9NX24 NHP2_HUMAN NHP2 ribonucleoprotein 103 rRNA pseudouridine synthesis Cajal body|nucleolus|small nucleolar ribonucleoprotein complex protein binding|snoRNA binding endometrium(1)|kidney(1)|ovary(2) 4 AGACATAGGGCAAATTTCGGT 0.517000 19 171 1.33834e-09 1.43244e-09 1 1 0 TTN 7273 broad.mit.edu 37 2 179612720 179612720 + Missense_Mutation SNP C C T TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr2:179612720C>T ENST00000360870.5 - 46 14629 c.14407G>A c.(14407-14409)Gaa>Aaa p.E4803K TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 913 Ig-like 28. 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) TCTGTATATTCCTGTGTCCCA 0.483000 6 21 0 0 1 0 0 MAPT 4137 broad.mit.edu 37 17 44039740 44039740 + Missense_Mutation SNP G G A TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr17:44039740G>A ENST00000344290.5 + 2 359 c.37G>A c.(37-39)Gat>Aat p.D13N MAPT_ENST00000446361.3_Missense_Mutation_p.D13N|MAPT_ENST00000262410.5_Missense_Mutation_p.D13N|MAPT_ENST00000570299.1_3'UTR|MAPT_ENST00000535772.1_Missense_Mutation_p.D13N|MAPT_ENST00000347967.5_5'UTR|MAPT_ENST00000334239.8_Missense_Mutation_p.D13N|MAPT_ENST00000351559.5_Missense_Mutation_p.D13N|MAPT_ENST00000431008.3_Missense_Mutation_p.D13N|MAPT_ENST00000571987.1_Missense_Mutation_p.D13N|MAPT_ENST00000420682.2_Missense_Mutation_p.D13N|MAPT_ENST00000340799.5_Missense_Mutation_p.D13N|MAPT_ENST00000415613.2_Missense_Mutation_p.D13N|MAPT_ENST00000574436.1_Missense_Mutation_p.D13N NM_001123066.3 NP_001116538.2 P10636 TAU_HUMAN microtubule-associated protein tau 13 cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 38 Melanoma(429;0.216) AGTGATGGAAGATCACGCTGG 0.572000 7 20 0 0 1 0 0 ENAM 10117 broad.mit.edu 37 4 71510114 71510114 + Missense_Mutation SNP G G A TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr4:71510114G>A ENST00000396073.3 + 9 3252 c.2971G>A c.(2971-2973)Gga>Aga p.G991R ENAM_ENST00000472903.1_Intron NM_031889.2 NP_114095.2 Q9NRM1 ENAM_HUMAN enamelin 991 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2) 6 Lung(101;0.235) AAATGATCTTGGAGGAGATGG 0.403000 17 76 0 0 1 0 0 ADRB1 153 broad.mit.edu 37 10 115804497 115804497 + Silent SNP G G A TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr10:115804497G>A ENST00000369295.2 + 1 692 c.606G>A c.(604-606)gaG>gaA p.E202E NM_000684.2 NP_000675.1 P08588 ADRB1_HUMAN adrenoceptor beta 1 202 positive regulation of cAMP biosynthetic process integral to plasma membrane alpha-2A adrenergic receptor binding|beta1-adrenergic receptor activity|protein heterodimerization activity large_intestine(4)|lung(1)|upper_aerodigestive_tract(1) 6 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0124)|all cancers(201;0.0298) Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Arbutamine(DB01102)|Atenolol(DB00335)|Betaxolol(DB00195)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Desipramine(DB01151)|Dobutamine(DB00841)|Dopamine(DB00988)|Epinephrine(DB00668)|Esmolol(DB00187)|Isoetharine(DB00221)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Metoprolol(DB00264)|Nadolol(DB01203)|Norepinephrine(DB00368)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Practolol(DB01297)|Propranolol(DB00571)|Risperidone(DB00734)|Timolol(DB00373)|Ziprasidone(DB00246) GGCGGGCGGAGAGCGACGAGG 0.692000 5 12 0 0 1 0 0 CCDC158 339965 broad.mit.edu 37 4 77288732 77288732 + Silent SNP G G A TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr4:77288732G>A ENST00000388914.3 - 11 1697 c.1545C>T c.(1543-1545)acC>acT p.T515T NM_001042784.1 NP_001036249.1 Q5M9N0 CD158_HUMAN coiled-coil domain containing 158 515 breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1) 56 TCTCTGCATTGGTAGCCTCGA 0.483000 7 54 0 0 1 0 0 CACNB3 784 broad.mit.edu 37 12 49220793 49220793 + Nonsense_Mutation SNP G G T TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr12:49220793G>T ENST00000301050.2 + 12 1226 c.1027G>T c.(1027-1029)Gag>Tag p.E343* CACNB3_ENST00000547392.1_Nonsense_Mutation_p.E316*|CACNB3_ENST00000536187.2_Nonsense_Mutation_p.E342*|CACNB3_ENST00000540990.1_Nonsense_Mutation_p.E330*|CACNB3_ENST00000547230.1_Nonsense_Mutation_p.E302* NM_000725.3 NP_000716.2 P54284 CACB3_HUMAN calcium channel, voltage-dependent, beta 3 subunit 343 axon guidance|membrane depolarization|synaptic transmission cytosol|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1) 12 Verapamil(DB00661) GAACCAGCTGGAGGATGCCTG 0.617000 18 84 1.00905e-13 1.10151e-13 1 1 0 KHNYN 23351 broad.mit.edu 37 14 24901993 24901993 + Missense_Mutation SNP G G T TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr14:24901993G>T ENST00000251343.5 + 4 1554 c.1415G>T c.(1414-1416)cGt>cTt p.R472L KHNYN_ENST00000553935.1_Missense_Mutation_p.R472L|KHNYN_ENST00000556842.1_Missense_Mutation_p.R472L O15037 KHNYN_HUMAN KH and NYN domain containing 472 kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3) 24 TTCTGGGACCGTGGTCACCGT 0.582000 OREG0022627 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 36 1 1 1 1 0 SRSF6 6431 broad.mit.edu 37 20 42089433 42089433 + Silent SNP G G T TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr20:42089433G>T ENST00000244020.3 + 6 871 c.765G>T c.(763-765)cgG>cgT p.R255R NM_006275.5 NP_006266.2 Q13247 SRSF6_HUMAN serine/arginine-rich splicing factor 6 255 Arg/Ser-rich (RS domain). mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription nucleoplasm nucleotide binding|protein binding|RNA binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2) 5 AGTCTGATCGGGGCTCCCATT 0.483000 5 24 0.014758 0.0148665 1 1 0 SART1 9092 broad.mit.edu 37 11 65733594 65733594 + Missense_Mutation SNP G G C TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr11:65733594G>C ENST00000312397.5 + 8 978 c.886G>C c.(886-888)Gat>Cat p.D296H NM_005146.4 NP_005137.1 O43290 SNUT1_HUMAN squamous cell carcinoma antigen recognized by T cells 296 cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly Cajal body|catalytic step 2 spliceosome|cytosol endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 GAACCTGGTGGATAAGGAGCG 0.612000 4 10 0 0 1 0 0 HFE 3077 broad.mit.edu 37 6 26091192 26091192 + Missense_Mutation SNP G G T rs139523708 TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr6:26091192G>T ENST00000357618.5 + 2 322 c.200G>T c.(199-201)cGt>cTt p.R67L HFE_ENST00000353147.5_Intron|HFE_ENST00000317896.7_Missense_Mutation_p.R67L|HFE_ENST00000349999.4_Intron|HFE_ENST00000309234.6_Missense_Mutation_p.R67L|HFE_ENST00000488199.1_Intron|HFE_ENST00000470149.1_Missense_Mutation_p.R67L|HFE_ENST00000336625.8_Missense_Mutation_p.R67L|HFE_ENST00000461397.1_Missense_Mutation_p.R67L|HFE_ENST00000352392.4_Intron|HFE_ENST00000397022.3_Missense_Mutation_p.R44L NM_000410.3|NM_139006.2 NP_000401.1|NP_620575.1 Q30201 HFE_HUMAN hemochromatosis 67 Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|cellular iron ion homeostasis|immune response|iron ion transport|protein complex assembly|receptor-mediated endocytosis apical part of cell|basal part of cell|cytoplasmic vesicle|early endosome|integral to plasma membrane|MHC class I protein complex|perinuclear region of cytoplasm|recycling endosome protein binding endometrium(3)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 GAGAGTCGCCGTGTGGAGCCC 0.512000 Hemochromatosis 20 46 3.83957e-06 4.06194e-06 1 1 0 CCDC158 339965 broad.mit.edu 37 4 77288872 77288872 + Missense_Mutation SNP G G C TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr4:77288872G>C ENST00000388914.3 - 11 1557 c.1405C>G c.(1405-1407)Cag>Gag p.Q469E NM_001042784.1 NP_001036249.1 Q5M9N0 CD158_HUMAN coiled-coil domain containing 158 469 breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1) 56 GATTCAAGCTGAGCAGTCAAG 0.413000 7 45 0 0 1 0 0 ZNF347 84671 broad.mit.edu 37 19 53644307 53644307 + Missense_Mutation SNP T T C TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr19:53644307T>C ENST00000452676.2 - 5 2203 c.1777A>G c.(1777-1779)Act>Gct p.T593A ZNF347_ENST00000334197.7_Missense_Mutation_p.T592A|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.T593A NM_001172674.1 NP_001166145.1 Q96SE7 ZN347_HUMAN zinc finger protein 347 592 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1) 23 GBM - Glioblastoma multiforme(134;0.0179) TTCTCTCCAGTATGAATTCCC 0.403000 37 101 0 0 1 0 0 ATP10A 57194 broad.mit.edu 37 15 25958924 25958924 + Silent SNP C C T TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr15:25958924C>T ENST00000356865.6 - 10 2352 c.2241G>A c.(2239-2241)aaG>aaA p.K747K NM_024490.3 NP_077816.1 O60312 AT10A_HUMAN ATPase, class V, type 10A 747 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) CTGACATCCTCTTGCGGACGG 0.602000 4 44 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7662788 7662788 + Missense_Mutation SNP G G C TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr17:7662788G>C ENST00000572933.1 + 16 3957 c.2497G>C c.(2497-2499)Gag>Cag p.E833Q DNAH2_ENST00000389173.2_Missense_Mutation_p.E833Q Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 833 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.E833K(1) NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) CCGCATGATGGAGGATGCCCT 0.522000 11 37 0 0 1 0 0 MARS2 92935 broad.mit.edu 37 2 198571355 198571355 + Missense_Mutation SNP G G T TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr2:198571355G>T ENST00000282276.6 + 1 1269 c.1226G>T c.(1225-1227)cGa>cTa p.R409L AC011997.1_ENST00000409845.1_Intron NM_138395.3 NP_612404.1 Q96GW9 SYMM_HUMAN methionyl-tRNA synthetase 2, mitochondrial 409 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) CTCTTGAACCGATGCACTGCC 0.547000 24 74 3.08376e-08 3.28775e-08 1 1 0 HBQ1 3049 broad.mit.edu 37 16 231038 231038 + Silent SNP C C T TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr16:231038C>T ENST00000199708.2 + 3 394 c.360C>T c.(358-360)ccC>ccT p.P120P NM_005331.4 NP_005322.1 P09105 HBAT_HUMAN hemoglobin, theta 1 120 hemoglobin complex heme binding|oxygen binding|oxygen transporter activity large_intestine(1) 1 all_cancers(16;2.03e-06)|all_epithelial(16;5.16e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0138)|all_lung(18;0.0306) ACTTCAGCCCCGCGCTGCAGG 0.692000 8 17 0 0 1 0 0 PTPRE 5791 broad.mit.edu 37 10 129871678 129871678 + Silent SNP C C T TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr10:129871678C>T ENST00000254667.3 + 17 1821 c.1542C>T c.(1540-1542)atC>atT p.I514I PTPRE_ENST00000306042.5_Silent_p.I456I|PTPRE_ENST00000419012.2_Silent_p.I514I NM_006504.4 NP_006495.1 P23469 PTPRE_HUMAN protein tyrosine phosphatase, receptor type, E 514 Tyrosine-protein phosphatase 2. 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) GGAGGATGATCTGGGAATGGA 0.597000 9 23 0 0 1 0 0 PCDH17 27253 broad.mit.edu 37 13 58207584 58207584 + Missense_Mutation SNP C C A TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr13:58207584C>A ENST00000377918.3 + 1 930 c.904C>A c.(904-906)Cta>Ata p.L302I NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 302 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) CAAGACCGGCCTAATCCGTGT 0.592000 4 24 0.00024832 0.000252936 1 1 0 TFPT 29844 broad.mit.edu 37 19 54610467 54610467 + Missense_Mutation SNP C C G TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr19:54610467C>G ENST00000391759.1 - 6 1057 c.652G>C c.(652-654)Gag>Cag p.E218Q NDUFA3_ENST00000485876.1_3'UTR|NDUFA3_ENST00000391764.3_Intron|TFPT_ENST00000391758.1_Missense_Mutation_p.E209Q|TFPT_ENST00000391757.1_3'UTR NM_013342.3 NP_037474.1 P0C1Z6 TFPT_HUMAN TCF3 (E2A) fusion partner (in childhood Leukemia) 218 apoptosis|DNA recombination|DNA repair|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|Ino80 complex DNA binding|protein binding large_intestine(2)|lung(2) 4 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) AAGTCTTCCTCAACCTTAATC 0.488000 T TCF3 pre-B ALL 18 47 0 0 1 0 0 NAT10 55226 broad.mit.edu 37 11 34145864 34145864 + Nonsense_Mutation SNP G G T TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr11:34145864G>T ENST00000257829.3 + 11 1230 c.1024G>T c.(1024-1026)Gag>Tag p.E342* NAT10_ENST00000527971.1_Intron|NAT10_ENST00000531159.2_Nonsense_Mutation_p.E270* NM_024662.2 NP_078938 Q9H0A0 NAT10_HUMAN N-acetyltransferase 10 (GCN5-related) 342 nucleolus ATP binding|N-acetyltransferase activity|protein binding endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231) TCTGGATTATGAGATTATCCA 0.368000 17 35 3.45872e-05 3.57618e-05 1 1 0 KCNB2 9312 broad.mit.edu 37 8 73849283 73849283 + Missense_Mutation SNP G G A TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr8:73849283G>A ENST00000523207.1 + 3 2281 c.1693G>A c.(1693-1695)Gag>Aag p.E565K NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 565 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) AGAAAAGCCTGAGAGGCCATC 0.502000 13 42 0 0 1 0 0 LYST 1130 broad.mit.edu 37 1 235884083 235884083 + Silent SNP C C T TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr1:235884083C>T ENST00000389794.3 - 40 9612 c.9438G>A c.(9436-9438)ttG>ttA p.L3146L LYST_ENST00000389793.2_Silent_p.L3146L|LYST_ENST00000473037.1_5'UTR Q99698 LYST_HUMAN lysosomal trafficking regulator 3146 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) TTAAGTGAGTCAAATATTCAA 0.378000 19 95 0 0 1 0 0 PLEKHA7 144100 broad.mit.edu 37 11 16847986 16847986 + Missense_Mutation SNP C C T TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr11:16847986C>T ENST00000355661.3 - 10 1034 c.1024G>A c.(1024-1026)Gga>Aga p.G342R PLEKHA7_ENST00000448080.2_Missense_Mutation_p.G342R|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.G342R Q6IQ23 PKHA7_HUMAN pleckstrin homology domain containing, family A member 7 342 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 TACTGCTCTCCCTCCTGCTCC 0.602000 23 26 0 0 1 0 0 EPHA7 2045 broad.mit.edu 37 6 93968002 93968002 + Splice_Site SNP C C T TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr6:93968002C>T ENST00000369303.4 - 11 2109 c.1925G>A c.(1924-1926)gGa>gAa p.G642E NM_004440.3 NP_004431.1 Q15375 EPHA7_HUMAN EPH receptor A7 642 Protein kinase. 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) ACCGAATTCTCCTGAAGTAAC 0.333000 18 70 0 0 1 0 0 ZNF213 7760 broad.mit.edu 37 16 3191041 3191041 + Missense_Mutation SNP C C T TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr16:3191041C>T ENST00000396878.3 + 6 1548 c.1073C>T c.(1072-1074)tCg>tTg p.S358L ZNF213_ENST00000576416.1_Missense_Mutation_p.S358L|ZNF213_ENST00000416391.2_Missense_Mutation_p.S200L|ZNF213_ENST00000574902.1_Missense_Mutation_p.S358L NM_001134655.1|NM_004220.2 NP_001128127.1|NP_004211.1 O14771 ZN213_HUMAN zinc finger protein 213 358 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 CGCAGCTCCTCGGACCTGGTG 0.687000 3 12 0 0 1 0 0 NT5C1A 84618 broad.mit.edu 37 1 40129030 40129030 + Silent SNP G G C TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr1:40129030G>C ENST00000235628.1 - 4 509 c.510C>G c.(508-510)ctC>ctG p.L170L NM_032526.1 NP_115915.1 Q9BXI3 5NT1A_HUMAN 5'-nucleotidase, cytosolic IA 170 purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process cytosol 5'-nucleotidase activity|magnesium ion binding|nucleotide binding breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2) 15 Lung NSC(20;3.81e-06)|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;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) CTGACAAGTAGAGGTTGGTGT 0.527000 32 14 0 0 1 0 0 PARG 8505 broad.mit.edu 37 10 51093329 51093329 + Missense_Mutation SNP C C T TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr10:51093329C>T ENST00000402038.3 - 4 294 c.295G>A c.(295-297)Gca>Aca p.A99T NM_003631.2 NP_003622.2 Q86W56 PARG_HUMAN poly (ADP-ribose) glycohydrolase 584 carbohydrate metabolic process nucleus poly(ADP-ribose) glycohydrolase activity p.A584T(1) endometrium(5)|kidney(2)|lung(1)|ovary(2) 10 Epithelial(53;0.213) TGAGCTTCTGCTTCTTCAAGT 0.318000 4 41 0 0 1 0 0 COL1A2 1278 broad.mit.edu 37 7 94058662 94058662 + Missense_Mutation SNP C C G TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr7:94058662C>G ENST00000297268.6 + 51 4345 c.3874C>G c.(3874-3876)Cta>Gta p.L1292V NM_000089.3 NP_000080.2 P08123 CO1A2_HUMAN collagen, type I, alpha 2 1292 Fibrillar collagen NC1. axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) GGCTGTCATTCTACAGGGCTC 0.458000 HNSCC(75;0.22) 20 34 0 0 1 0 0 OGDH 4967 broad.mit.edu 37 7 44684960 44684960 + Missense_Mutation SNP G G C TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr7:44684960G>C ENST00000222673.5 + 3 299 c.257G>C c.(256-258)gGa>gCa p.G86A OGDH_ENST00000449767.1_Missense_Mutation_p.G86A|OGDH_ENST00000447398.1_Missense_Mutation_p.G86A|OGDH_ENST00000543843.1_Missense_Mutation_p.G26A|OGDH_ENST00000439616.2_Intron|OGDH_ENST00000444676.1_Missense_Mutation_p.G86A|OGDH_ENST00000443864.2_Missense_Mutation_p.G86A NM_002541.3 NP_002532.2 Q02218 ODO1_HUMAN oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) 86 glycolysis|lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|mitochondrial membrane oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 36 NADH(DB00157) ACGAATGCCGGAGCCCCACCG 0.582000 21 81 0 0 1 0 0 GEMIN2 8487 broad.mit.edu 37 14 39601163 39601163 + Splice_Site SNP G G A TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr14:39601163G>A ENST00000308317.6 + 8 718 c.635G>A c.(634-636)gGa>gAa p.G212E GEMIN2_ENST00000250379.8_Splice_Site_p.G197E|GEMIN2_ENST00000396249.2_Splice_Site_p.G212E NM_003616.2 NP_003607.1 O14893 GEMI2_HUMAN gem (nuclear organelle) associated protein 2 212 ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly Cajal body|cytosol|spliceosomal complex protein binding tttttttaGGGAAGATGGCTT 0.343000 14 34 0 0 1 0 0 APTX 54840 broad.mit.edu 37 9 33001576 33001576 + Silent SNP G G A TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr9:33001576G>A ENST00000379825.2 - 1 50 c.27C>T c.(25-27)tcC>tcT p.S9S APTX_ENST00000397172.3_Silent_p.S9S|APTX_ENST00000379813.3_5'UTR|APTX_ENST00000379819.1_Silent_p.S9S|APTX_ENST00000309615.3_Silent_p.S9S|APTX_ENST00000476858.1_Silent_p.S9S Q7Z2E3 APTX_HUMAN aprataxin 9 Interactions with ADPRT and NCL. cell death|double-strand break repair|regulation of protein stability|response to hydrogen peroxide|single strand break repair chromatin|nucleolus|nucleoplasm chromatin binding|damaged DNA binding|DNA 5'-adenosine monophosphate hydrolase activity|double-stranded DNA binding|double-stranded RNA binding|phosphoglycolate phosphatase activity|phosphoprotein binding|polynucleotide 3'-phosphatase activity|protein N-terminus binding|zinc ion binding endometrium(1)|lung(1)|ovary(2)|prostate(2) 6 LUSC - Lung squamous cell carcinoma(29;0.0302) GBM - Glioblastoma multiforme(74;0.105) TCCAGAAGTCGGAGACGGACA 0.617000 Editing and processing nucleases 3 14 0 0 1 0 0 CLCA2 9635 broad.mit.edu 37 1 86919059 86919059 + Missense_Mutation SNP T T G TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr1:86919059T>G ENST00000370565.4 + 13 2325 c.2163T>G c.(2161-2163)atT>atG p.I721M CLCA2_ENST00000498802.1_3'UTR NM_006536.5 NP_006527.1 Q9UQC9 CLCA2_HUMAN chloride channel accessory 2 721 cell adhesion basal plasma membrane|cell junction|extracellular region|integral to plasma membrane chloride channel activity NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 42 Lung NSC(277;0.238) all cancers(265;0.0233)|Epithelial(280;0.0452) CAGGTAATATTCAGATGAATG 0.413000 5 25 0 0 1 0 0 PCDHA1 56147 broad.mit.edu 37 5 140167052 140167052 + Missense_Mutation SNP G G A TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr5:140167052G>A ENST00000504120.2 + 1 1177 c.1177G>A c.(1177-1179)Gtc>Atc p.V393I PCDHA1_ENST00000394633.3_Missense_Mutation_p.V393I|PCDHA1_ENST00000378133.3_Missense_Mutation_p.V393I 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) AATGCCCCACGTCCCCTTCAA 0.587000 16 101 0 0 1 0 0 SHOX2 6474 broad.mit.edu 37 3 157823800 157823800 + Missense_Mutation SNP G G A TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr3:157823800G>A ENST00000389589.4 - 1 149 c.14C>T c.(13-15)aCg>aTg p.T5M SHOX2_ENST00000441443.2_De_novo_Start_InFrame|SHOX2_ENST00000483851.2_Missense_Mutation_p.T5M|SHOX2_ENST00000554685.1_5'UTR|SHOX2_ENST00000425436.3_Missense_Mutation_p.T5M|RSRC1_ENST00000480820.1_Splice_Site NM_003030.4 NP_003021.3 O60902 SHOX2_HUMAN short stature homeobox 2 5 nervous system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1) 20 Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043) GACGAACGCCGTAAGTTCTTC 0.597000 17 34 0 0 1 0 0 CPPED1 55313 broad.mit.edu 37 16 12758794 12758794 + Silent SNP C C T TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr16:12758794C>T ENST00000381774.4 - 4 1134 c.894G>A c.(892-894)ctG>ctA p.L298L CPPED1_ENST00000433677.2_Silent_p.L156L|CPPED1_ENST00000261660.4_3'UTR NM_018340.2 NP_060810.2 Q9BRF8 CPPED_HUMAN calcineurin-like phosphoesterase domain containing 1 298 hydrolase activity|metal ion binding p.L298L(1) cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1) 18 CTTTCTCACTCAGCTCATCTA 0.478000 12 76 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237670076 237670076 + Missense_Mutation SNP G G A TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr1:237670076G>A ENST00000366574.2 + 23 2997 c.2680G>A c.(2680-2682)Gtt>Att p.V894I RYR2_ENST00000360064.6_Missense_Mutation_p.V892I|RYR2_ENST00000542537.1_Missense_Mutation_p.V878I NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 894 4 X approximate repeats. 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) TGAACTCTGGGTTATGAATAA 0.328000 22 12 0 0 1 0 0 ST3GAL5 8869 broad.mit.edu 37 2 86071581 86071581 + Missense_Mutation SNP C C G TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr2:86071581C>G ENST00000377332.3 - 6 1054 c.946G>C c.(946-948)Gag>Cag p.E316Q ST3GAL5_ENST00000393808.3_Missense_Mutation_p.E293Q|ST3GAL5_ENST00000393805.1_Missense_Mutation_p.E288Q NM_003896.3 NP_003887.3 Q9UNP4 SIAT9_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 5 316 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 AAGGCAGTCTCTTTGATGATA 0.428000 4 52 0 0 1 0 0 SMTNL1 219537 broad.mit.edu 37 11 57310143 57310143 + Missense_Mutation SNP G G C TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr11:57310143G>C ENST00000457912.1 + 2 82 c.82G>C c.(82-84)Gag>Cag p.E28Q SMTNL1_ENST00000527972.1_Missense_Mutation_p.E10Q|SMTNL1_ENST00000399154.2_Missense_Mutation_p.E10Q E9PPJ3 E9PPJ3_HUMAN smoothelin-like 1 10 endometrium(2)|large_intestine(1)|lung(4)|ovary(1) 8 GAAGCTCTCTGAGGATGGGAC 0.587000 4 9 0 0 1 0 0 SART1 9092 broad.mit.edu 37 11 65732636 65732636 + Silent SNP G G C TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr11:65732636G>C ENST00000312397.5 + 4 593 c.501G>C c.(499-501)ctG>ctC p.L167L NM_005146.4 NP_005137.1 O43290 SNUT1_HUMAN squamous cell carcinoma antigen recognized by T cells 167 cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly Cajal body|catalytic step 2 spliceosome|cytosol endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 GAGAGGAGCTGCGGGAGAAGC 0.662000 6 14 0 0 1 0 0 PIKFYVE 200576 broad.mit.edu 37 2 209195257 209195257 + Nonsense_Mutation SNP C C T TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr2:209195257C>T ENST00000264380.4 + 23 3960 c.3802C>T c.(3802-3804)Cag>Tag p.Q1268* NM_015040.3 NP_055855.2 Q9Y2I7 FYV1_HUMAN phosphoinositide kinase, FYVE finger containing 1268 cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 107 GCCTTCTTATCAGTGTCCAAG 0.443000 148 232 0 0 1 0 0 GGNBP2 79893 broad.mit.edu 37 17 34941817 34941817 + Missense_Mutation SNP G G A TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr17:34941817G>A ENST00000304718.4 + 10 1619 c.1303G>A c.(1303-1305)Gaa>Aaa p.E435K NM_024835.3 NP_079111.1 Q9H3C7 GGNB2_HUMAN gametogenetin binding protein 2 435 cell differentiation|multicellular organismal development|spermatogenesis cytoplasmic membrane-bounded vesicle breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1) 38 Breast(25;0.00957)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0193) TGTTACCAATGAAAATACATC 0.353000 52 102 0 0 1 0 0 OR2V2 285659 broad.mit.edu 37 5 180582422 180582422 + Missense_Mutation SNP G G C TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr5:180582422G>C ENST00000328275.1 + 1 480 c.480G>C c.(478-480)caG>caC p.Q160H NM_206880.1 NP_996763.1 Q96R30 OR2V2_HUMAN olfactory receptor, family 2, subfamily V, member 2 160 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684) all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCTTGATCCAGATGGTGGTAG 0.483000 29 125 0 0 1 0 0 LRRC37A4P 55073 broad.mit.edu 37 17 43587657 43587657 + RNA SNP C C T rs148404065 by1000genomes TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr17:43587657C>T ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA GGTGACAACACATCTGTTTTA 0.323000 4 113 0 0 1 0 0 PADI4 23569 broad.mit.edu 37 1 17681173 17681173 + Missense_Mutation SNP G G A TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr1:17681173G>A ENST00000375448.4 + 11 1327 c.1301G>A c.(1300-1302)tGt>tAt p.C434Y PADI4_ENST00000487048.1_3'UTR NM_012387.2 NP_036519.2 Q9UM07 PADI4_HUMAN peptidyl arginine deiminase, type IV 434 chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3) 26 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199) L-Citrulline(DB00155) GGGGACAGCTGTTATCCCAGG 0.582000 4 14 0 0 1 0 0 PHLDB2 90102 broad.mit.edu 37 3 111671434 111671434 + Missense_Mutation SNP G G A TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr3:111671434G>A ENST00000431670.2 + 11 3058 c.2647G>A c.(2647-2649)Gaa>Aaa p.E883K PHLDB2_ENST00000481953.1_Missense_Mutation_p.E840K|PHLDB2_ENST00000393925.3_Missense_Mutation_p.E883K|PHLDB2_ENST00000495180.1_Intron|PHLDB2_ENST00000393923.3_Missense_Mutation_p.E867K|PHLDB2_ENST00000412622.1_Missense_Mutation_p.E840K NM_001134438.1 NP_001127910.1 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, member 2 883 cytoplasm|intermediate filament cytoskeleton|plasma membrane breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1) 55 TAGAAGTCTGGAAGAAAGGAA 0.373000 8 58 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168104815 168104815 + Missense_Mutation SNP G G A TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr2:168104815G>A ENST00000409195.1 + 9 7002 c.6913G>A c.(6913-6915)Gaa>Aaa p.E2305K XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E2083K|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E2305K NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 2130 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 TGCATCATCTGAAATTGAATT 0.428000 13 66 0 0 1 0 0 SLC10A2 6555 broad.mit.edu 37 13 103710640 103710640 + Missense_Mutation SNP C C T TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr13:103710640C>T ENST00000245312.3 - 2 1066 c.470G>A c.(469-471)aGc>aAc p.S157N NM_000452.2 NP_000443 Q12908 NTCP2_HUMAN solute carrier family 10 (sodium/bile acid cotransporter), member 2 157 bile acid metabolic process|organic anion transport integral to plasma membrane bile acid:sodium symporter activity breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) AATTACGATGCTCCCAGAGTC 0.498000 24 41 0 0 1 0 0 SCN5A 6331 broad.mit.edu 37 3 38655514 38655514 + Nonsense_Mutation SNP G G A TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr3:38655514G>A ENST00000413689.1 - 6 848 c.655C>T c.(655-657)Cga>Tga p.R219* SCN5A_ENST00000425664.1_Nonsense_Mutation_p.R219*|SCN5A_ENST00000450102.2_Nonsense_Mutation_p.R219*|SCN5A_ENST00000451551.2_Nonsense_Mutation_p.R219*|SCN5A_ENST00000414099.2_Nonsense_Mutation_p.R219*|SCN5A_ENST00000423572.2_Intron|SCN5A_ENST00000455624.2_Nonsense_Mutation_p.R219*|SCN5A_ENST00000449557.2_Intron|SCN5A_ENST00000333535.4_Intron|SCN5A_ENST00000443581.1_Intron NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 219 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) CTGAAAGTTCGAAGAGCCGAC 0.438000 3 16 0 0 1 0 0 ZNFX1 57169 broad.mit.edu 37 20 47888220 47888220 + Silent SNP G G A TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr20:47888220G>A ENST00000396105.1 - 3 375 c.129C>T c.(127-129)ctC>ctT p.L43L ZNFX1_ENST00000371752.1_Silent_p.L43L|ZNFX1_ENST00000371754.4_Silent_p.L43L NM_021035.2 NP_066363.1 Q9P2E3 ZNFX1_HUMAN zinc finger, NFX1-type containing 1 43 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) CTCCTCCTCGGAGAGCATTGG 0.527000 17 46 0 0 1 0 0 ROCK1P1 727758 broad.mit.edu 37 18 116916 116916 + RNA SNP T T G TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr18:116916T>G ENST00000608049.1 + 0 464 NR_033770.1 CCTAAAATATTCCAGGTAAAA 0.284000 6 64 0 0 1 0 0 TLR6 10333 broad.mit.edu 37 4 38829053 38829053 + Missense_Mutation SNP C C T TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr4:38829053C>T ENST00000436693.2 - 2 2161 c.2042G>A c.(2041-2043)gGc>gAc p.G681D TLR6_ENST00000381950.1_Missense_Mutation_p.G681D NM_006068.4 NP_006059.2 Q9Y2C9 TLR6_HUMAN toll-like receptor 6 681 TIR. activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway integral to plasma membrane|phagocytic vesicle membrane lipopeptide binding|transmembrane receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 AATGCTCTTGCCAGGGACAAA 0.393000 4 121 0 0 1 0 0 CHGB 1114 broad.mit.edu 37 20 5903651 5903651 + Silent SNP G G A TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr20:5903651G>A ENST00000378961.4 + 4 1065 c.861G>A c.(859-861)agG>agA p.R287R NM_001819.2 NP_001810.2 P05060 SCG1_HUMAN chromogranin B (secretogranin 1) 287 extracellular region hormone activity breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 47 ACCACGGGAGGAGCAGGCCCG 0.592000 5 13 0 0 1 0 0 OR10J3 441911 broad.mit.edu 37 1 159283717 159283717 + Missense_Mutation SNP G G A TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr1:159283717G>A ENST00000332217.5 - 1 732 c.733C>T c.(733-735)Cac>Tac p.H245Y NM_001004467.1 NP_001004467.1 Q5JRS4 O10J3_HUMAN olfactory receptor, family 10, subfamily J, member 3 245 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 47 all_hematologic(112;0.0429) ACTGTGAGGTGGGAGGCGCAG 0.522000 12 68 0 0 1 0 0 NARFL 64428 broad.mit.edu 37 16 783422 783422 + Silent SNP C C T TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr16:783422C>T ENST00000540986.1 - 6 1828 c.393G>A c.(391-393)ttG>ttA p.L131L NARFL_ENST00000562862.1_5'UTR|NARFL_ENST00000301694.5_Silent_p.*189*|NARFL_ENST00000568545.1_Silent_p.L131L|HAGHL_ENST00000569604.1_Intron|NARFL_ENST00000251588.2_Silent_p.L233L Q9H6Q4 NARFL_HUMAN nuclear prelamin A recognition factor-like 233 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) TGTCAGGGGTCAAGTGCTACA 0.557000 10 25 0 0 1 0 0 MARVELD2 153562 broad.mit.edu 37 5 68728482 68728482 + Silent SNP C C T TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr5:68728482C>T ENST00000325631.5 + 4 1385 c.1311C>T c.(1309-1311)atC>atT p.I437I MARVELD2_ENST00000413223.2_Silent_p.I321I NM_001038603.2|NM_001244734.1 NP_001033692.2|NP_001231663.1 Q8N4S9 MALD2_HUMAN MARVEL domain containing 2 437 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) CTAAACCTATCGTGATGCCCG 0.458000 12 47 0 0 1 0 0 ARFIP2 23647 broad.mit.edu 37 11 6498975 6498975 + Missense_Mutation SNP G G C TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr11:6498975G>C ENST00000254584.2 - 7 926 c.843C>G c.(841-843)atC>atG p.I281M ARFIP2_ENST00000445086.2_Missense_Mutation_p.I196M|ARFIP2_ENST00000396777.3_Missense_Mutation_p.I281M|ARFIP2_ENST00000423813.2_Missense_Mutation_p.I243M NM_012402.3 NP_036534.1 P53365 ARFP2_HUMAN ADP-ribosylation factor interacting protein 2 281 AH. actin cytoskeleton organization|cellular component movement|lamellipodium assembly|ruffle organization|small GTPase mediated signal transduction cell cortex|plasma membrane|ruffle GTP binding|GTP-dependent protein binding|Rac GTPase binding endometrium(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(2) 15 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) ACTTGAGCTTGATGGCCACAT 0.592000 13 18 0 0 1 0 0 MMP20 9313 broad.mit.edu 37 11 102465479 102465479 + Missense_Mutation SNP C C G TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr11:102465479C>G ENST00000260228.2 - 7 975 c.963G>C c.(961-963)tgG>tgC p.W321C MMP20_ENST00000544938.1_5'UTR NM_004771.3 NP_004762.2 O60882 MMP20_HUMAN matrix metallopeptidase 20 321 Hemopexin-like 1. proteolysis|regulation of enamel mineralization extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033) Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13) BRCA - Breast invasive adenocarcinoma(274;0.0161) CCTGCCGTCTCCAGAAAATCC 0.413000 4 20 0 0 1 0 0 EPB41L2 2037 broad.mit.edu 37 6 131220670 131220670 + Silent SNP C C T TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr6:131220670C>T ENST00000337057.3 - 8 1378 c.1197G>A c.(1195-1197)aaG>aaA p.K399K EPB41L2_ENST00000527411.1_Silent_p.K399K|EPB41L2_ENST00000525193.1_Silent_p.K399K|EPB41L2_ENST00000529208.1_Silent_p.K399K|EPB41L2_ENST00000392427.3_Silent_p.K399K|EPB41L2_ENST00000528282.1_Silent_p.K399K|EPB41L2_ENST00000525271.1_Silent_p.K399K|EPB41L2_ENST00000530481.1_Silent_p.K399K|EPB41L2_ENST00000368128.2_Silent_p.K399K|EPB41L2_ENST00000445890.2_Silent_p.K399K|EPB41L2_ENST00000530148.1_5'UTR|EPB41L2_ENST00000527659.1_Silent_p.K399K NM_001431.3 NP_001422.1 O43491 E41L2_HUMAN erythrocyte membrane protein band 4.1-like 2 399 FERM. cortical actin cytoskeleton organization extrinsic to membrane|plasma membrane|spectrin actin binding|structural molecule activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2) 44 Breast(56;0.0639) OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355) TGGAAAGCCTCTTTGCATTTT 0.418000 26 41 0 0 1 0 0 ZNRF4 148066 broad.mit.edu 37 19 5456732 5456732 + Silent SNP G G C TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr19:5456732G>C ENST00000222033.4 + 1 1307 c.1230G>C c.(1228-1230)acG>acC p.T410T NM_181710.3 NP_859061.3 Q8WWF5 ZNRF4_HUMAN zinc and ring finger 4 410 integral to membrane zinc ion binding NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 UCEC - Uterine corpus endometrioid carcinoma (162;0.0002) GCAGCACCACGTCCCTGGAGG 0.652000 3 13 0 0 1 0 0 DAB2 1601 broad.mit.edu 37 5 39383123 39383123 + Missense_Mutation SNP G G C TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr5:39383123G>C ENST00000545653.1 - 9 1405 c.875C>G c.(874-876)tCt>tGt p.S292C DAB2_ENST00000339788.6_Intron|DAB2_ENST00000320816.6_Missense_Mutation_p.S313C|DAB2_ENST00000509337.1_Missense_Mutation_p.S292C NM_001244871.1 NP_001231800.1 P98082 DAB2_HUMAN Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila) 313 cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway clathrin coated vesicle membrane|coated pit protein C-terminus binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 47 all_lung(31;0.000197) Epithelial(62;0.137) AGATTTGAGAGAATCAAACGA 0.463000 13 105 0 0 1 0 0 USP32 84669 broad.mit.edu 37 17 58365902 58365902 + Silent SNP G G A TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr17:58365902G>A ENST00000300896.4 - 5 747 c.553C>T c.(553-555)Ctg>Ttg p.L185L USP32_ENST00000393003.3_Silent_p.L185L NM_032582.3 NP_115971.2 Q8NFA0 UBP32_HUMAN ubiquitin specific peptidase 32 185 protein deubiquitination|ubiquitin-dependent protein catabolic process Golgi apparatus|membrane calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity p.L185fs*13(1) NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1) 62 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198) ACTCCAGCCAGAGTTTGGTAG 0.343000 20 63 0 0 1 0 0 BBS7 55212 broad.mit.edu 37 4 122780306 122780306 + Silent SNP G G A TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr4:122780306G>A ENST00000264499.4 - 5 552 c.369C>T c.(367-369)ctC>ctT p.L123L BBS7_ENST00000506636.1_Silent_p.L123L NM_176824.2 NP_789794.1 Q8IWZ6 BBS7_HUMAN Bardet-Biedl syndrome 7 123 cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception BBSome|centrosome|cilium membrane protein binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2) 30 AACTTGCACTGAGAAAGAGGT 0.338000 Bardet-Biedl syndrome 22 43 0 0 1 0 0 APLNR 187 broad.mit.edu 37 11 57003868 57003868 + Missense_Mutation SNP G G A TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr11:57003868G>A ENST00000606794.1 - 1 807 c.611C>T c.(610-612)tCg>tTg p.S204L NM_005161.4 NP_005152.1 P35414 APJ_HUMAN apelin receptor 204 integral to plasma membrane G-protein coupled receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 GGTGGTGGACGAGACCCCAAG 0.587000 7 18 0 0 1 0 0 HDAC1 3065 broad.mit.edu 37 1 32768301 32768301 + Silent SNP C C G TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr1:32768301C>G ENST00000373548.3 + 2 213 c.129C>G c.(127-129)ctC>ctG p.L43L HDAC1_ENST00000373541.2_5'UTR NM_004964.2 NP_004955.2 Q13547 HDAC1_HUMAN histone deacetylase 1 43 Histone deacetylase. anti-apoptosis|blood coagulation|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|histone H3 deacetylation|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of androgen receptor signaling pathway|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter cytosol|NuRD complex|Sin3 complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|identical protein 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)|RNA polymerase II transcription corepressor activity|sequence-specific DNA binding transcription factor activity NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 18 Breast(348;0.000523)|Lung NSC(340;0.000992)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Lung SC(1967;0.113) KIRC - Kidney renal clear cell carcinoma(1967;0.138) Vorinostat(DB02546) ATTTGCTGCTCAACTATGGTC 0.458000 27 18 0 0 1 0 0 ENPEP 2028 broad.mit.edu 37 4 111471032 111471032 + Missense_Mutation SNP C C G TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr4:111471032C>G ENST00000265162.5 + 17 2833 c.2491C>G c.(2491-2493)Ctt>Gtt p.L831V NM_001977.3 NP_001968.3 Q07075 AMPE_HUMAN glutamyl aminopeptidase (aminopeptidase A) 831 cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) GAACGTTACTCTTTTGTCAAG 0.318000 7 26 0 0 1 0 0 PTPN14 5784 broad.mit.edu 37 1 214568286 214568286 + Missense_Mutation SNP G G C TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr1:214568286G>C ENST00000366956.5 - 9 996 c.802C>G c.(802-804)Cta>Gta p.L268V PTPN14_ENST00000543945.1_3'UTR NM_005401.4 NP_005392.2 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 14 268 FERM. lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding p.L268L(1) NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) AGCTCCACTAGAATGGTCGAC 0.428000 27 120 0 0 1 0 0 MMRN1 22915 broad.mit.edu 37 4 90856580 90856580 + Missense_Mutation SNP G G A TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr4:90856580G>A ENST00000394980.1 + 7 2068 c.1749G>A c.(1747-1749)atG>atA p.M583I MMRN1_ENST00000264790.2_Missense_Mutation_p.M583I|MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000508372.1_Missense_Mutation_p.M325I Q13201 MMRN1_HUMAN multimerin 1 583 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) CTTTGGAGATGGAGAAAGAGT 0.343000 8 24 0 0 1 0 0 FAM26E 254228 broad.mit.edu 37 6 116833364 116833364 + Missense_Mutation SNP G G A TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr6:116833364G>A ENST00000368599.3 + 1 556 c.505G>A c.(505-507)Gaa>Aaa p.E169K TRAPPC3L_ENST00000368602.3_Intron|TRAPPC3L_ENST00000356128.4_5'UTR NM_153711.2 NP_714922.1 Q8N5C1 FA26E_HUMAN family with sequence similarity 26, member E 169 integral to membrane breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1) 7 all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212) TACCGTCAATGAAGAACTGAA 0.463000 14 32 0 0 1 0 0 HDAC5 10014 broad.mit.edu 37 17 42158201 42158201 + Missense_Mutation SNP G G C TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr17:42158201G>C ENST00000225983.6 - 21 2983 c.2660C>G c.(2659-2661)tCt>tGt p.S887C HDAC5_ENST00000586802.1_Missense_Mutation_p.S886C|HDAC5_ENST00000393622.2_Missense_Mutation_p.S886C|HDAC5_ENST00000336057.5_Missense_Mutation_p.S801C Q9UQL6 HDAC5_HUMAN histone deacetylase 5 886 Histone deacetylase. 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) GTAGAGCACAGAGGGGTCATT 0.552000 7 26 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152832202 152832202 + Missense_Mutation SNP C C T TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr6:152832202C>T ENST00000367255.5 - 7 947 c.346G>A c.(346-348)Gat>Aat p.D116N SYNE1_ENST00000265368.4_Missense_Mutation_p.D116N|SYNE1_ENST00000466159.2_Missense_Mutation_p.D116N|SYNE1_ENST00000341594.5_Missense_Mutation_p.D116N|SYNE1_ENST00000367253.4_Missense_Mutation_p.D116N|SYNE1_ENST00000423061.1_Missense_Mutation_p.D123N|SYNE1_ENST00000367248.3_Missense_Mutation_p.D123N|SYNE1_ENST00000413186.2_Missense_Mutation_p.D116N|SYNE1_ENST00000448038.1_Missense_Mutation_p.D123N NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 116 Actin-binding.|CH 1. 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) GGTCGGCCATCAGCTATATCG 0.333000 HNSCC(10;0.0054) 23 74 0 0 1 0 0 CES3 23491 broad.mit.edu 37 16 66997250 66997250 + Nonsense_Mutation SNP G G A TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr16:66997250G>A ENST00000303334.4 + 2 322 c.251G>A c.(250-252)tGg>tAg p.W84* CES3_ENST00000394037.1_Nonsense_Mutation_p.W84* NM_024922.5 NP_079198.2 Q6UWW8 EST3_HUMAN carboxylesterase 3 84 endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1) 24 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127) GCACAGCCCTGGGAGGGTGTG 0.632000 29 68 0 0 1 0 0 MTUS2 23281 broad.mit.edu 37 13 29600798 29600798 + Silent SNP C C T TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr13:29600798C>T ENST00000431530.3 + 1 2051 c.1993C>T c.(1993-1995)Ctg>Ttg p.L665L NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 655 Mediates interaction with MAPRE1. cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 TCCCCAGGCCCTGGGCCAGGT 0.572000 6 12 0 0 1 0 0 GPR176 11245 broad.mit.edu 37 15 40093494 40093494 + Nonsense_Mutation SNP G G A TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr15:40093494G>A ENST00000299092.3 - 4 1582 c.1384C>T c.(1384-1386)Cag>Tag p.Q462* GPR176_ENST00000543580.1_Nonsense_Mutation_p.Q418*|GPR176_ENST00000561100.1_Nonsense_Mutation_p.Q463*|RP11-37C7.1_ENST00000558616.1_RNA NM_001271854.1|NM_001271855.1 NP_001258783.1|NP_001258784.1 Q14439 GP176_HUMAN G protein-coupled receptor 176 463 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) GAGAGCCACTGAGGAGGCAAC 0.567000 14 26 0 0 1 0 0 FBN3 84467 broad.mit.edu 37 19 8191377 8191377 + Silent SNP C C T TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr19:8191377C>T ENST00000600128.1 - 20 2943 c.2529G>A c.(2527-2529)ggG>ggA p.G843G FBN3_ENST00000270509.2_Silent_p.G843G|FBN3_ENST00000601739.1_Silent_p.G843G Q75N90 FBN3_HUMAN fibrillin 3 843 TB 4. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 CGCAGGGGCTCCCCCAGGCTG 0.677000 6 8 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49446723 49446723 + Nonsense_Mutation SNP C C A TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr12:49446723C>A ENST00000301067.7 - 8 1086 c.1087G>T c.(1087-1089)Gag>Tag p.E363* NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D GTATGCTGCTCAGCAACGGAG 0.542000 19 73 2.37509e-13 2.58244e-13 1 1 0 MKNK2 2872 broad.mit.edu 37 19 2043153 2043153 + Missense_Mutation SNP A A T TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr19:2043153A>T ENST00000250896.3 - 7 707 c.463T>A c.(463-465)Ttc>Atc p.F155I MKNK2_ENST00000541165.1_Missense_Mutation_p.F24I|MKNK2_ENST00000591601.1_Missense_Mutation_p.F155I|MKNK2_ENST00000309340.7_Missense_Mutation_p.F155I NM_199054.2 NP_951009.1 Q9HBH9 MKNK2_HUMAN MAP kinase interacting serine/threonine kinase 2 155 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) ACCAGGTAGAAGCGGTCCTCC 0.632000 15 46 0 0 1 0 0 COL1A2 1278 broad.mit.edu 37 7 94033905 94033905 + Missense_Mutation SNP G G C TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr7:94033905G>C ENST00000297268.6 + 7 788 c.317G>C c.(316-318)gGa>gCa p.G106A NM_000089.3 NP_000080.2 P08123 CO1A2_HUMAN collagen, type I, alpha 2 106 axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) GGTGCAGCTGGAGCCCCAGTA 0.418000 HNSCC(75;0.22) 10 37 0 0 1 0 0 COL4A3 1285 broad.mit.edu 37 2 228145304 228145304 + Missense_Mutation SNP G G A TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr2:228145304G>A ENST00000396578.3 + 30 2534 c.2372G>A c.(2371-2373)cGa>cAa p.R791Q AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000396588.2_RNA NM_000091.4 NP_000082.2 Q01955 CO4A3_HUMAN collagen, type IV, alpha 3 (Goodpasture antigen) 791 Triple-helical region. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) GATGGACCACGAGGTACAATA 0.473000 14 58 0 0 1 0 0 PDCD4 27250 broad.mit.edu 37 10 112647450 112647450 + Missense_Mutation SNP G G A TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr10:112647450G>A ENST00000393104.2 + 7 910 c.550G>A c.(550-552)Gaa>Aaa p.E184K PDCD4_ENST00000481353.1_3'UTR|PDCD4_ENST00000280154.7_Missense_Mutation_p.E195K NM_145341.3 NP_663314.1 Q53EL6 PDCD4_HUMAN programmed cell death 4 (neoplastic transformation inhibitor) 195 MI 1. apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent cytosol|nucleus protein binding|RNA binding breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 13 Breast(234;0.0848)|Lung NSC(174;0.238) Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125) AAATCTTGGTGAAATGAAAAG 0.323000 28 43 0 0 1 0 0 CNTN6 27255 broad.mit.edu 37 3 1415636 1415636 + Silent SNP C C T TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr3:1415636C>T ENST00000446702.2 + 16 2601 c.1974C>T c.(1972-1974)taC>taT p.Y658Y CNTN6_ENST00000539053.1_Silent_p.Y586Y|CNTN6_ENST00000350110.2_Silent_p.Y658Y Q9UQ52 CNTN6_HUMAN contactin 6 658 Fibronectin type-III 1. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) GTAAGACATACAATGCAACAG 0.383000 13 82 0 0 1 0 0 SACS 26278 broad.mit.edu 37 13 23908972 23908972 + Missense_Mutation SNP T T A TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr13:23908972T>A ENST00000382298.3 - 10 9631 c.9043A>T c.(9043-9045)Atc>Ttc p.I3015F SACS_ENST00000382292.3_Missense_Mutation_p.I3015F|SACS_ENST00000402364.1_Missense_Mutation_p.I2265F NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 3015 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 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) GACATATTGATCCAAGTAATT 0.348000 32 57 0 0 1 0 0 WDR81 124997 broad.mit.edu 37 17 1636853 1636853 + Missense_Mutation SNP G G A TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr17:1636853G>A ENST00000409644.1 + 7 4522 c.4522G>A c.(4522-4524)Gag>Aag p.E1508K WDR81_ENST00000437219.2_Missense_Mutation_p.E305K|WDR81_ENST00000446363.1_Missense_Mutation_p.E147K|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000419248.1_Missense_Mutation_p.E281K|WDR81_ENST00000309182.5_Missense_Mutation_p.E457K|WDR81_ENST00000545662.1_Missense_Mutation_p.E139K NM_001163809.1 NP_001157281.1 B3KXU1 B3KXU1_HUMAN WD repeat domain 81 281 cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1) 16 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) CCCCAACCACGAGCTGGTTGG 0.632000 29 68 0 0 1 0 0 PLA2G6 8398 broad.mit.edu 37 22 38511626 38511626 + Missense_Mutation SNP C C T TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr22:38511626C>T ENST00000332509.3 - 14 2125 c.1942G>A c.(1942-1944)Ggg>Agg p.G648R PLA2G6_ENST00000402064.1_Missense_Mutation_p.G594R|PLA2G6_ENST00000335539.3_Missense_Mutation_p.G594R NM_003560.2 NP_003551.2 O60733 PA2G6_HUMAN phospholipase A2, group VI (cytosolic, calcium-independent) 648 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) AGGAAGCGCCCATTGGGTCGG 0.652000 3 11 0 0 1 0 0 GOT2 2806 broad.mit.edu 37 16 58756066 58756066 + Silent SNP C C T TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr16:58756066C>T ENST00000245206.5 - 3 491 c.363G>A c.(361-363)ttG>ttA p.L121L GOT2_ENST00000434819.2_Intron|GOT2_ENST00000564400.1_5'UTR NM_002080.2 NP_002071.2 P00505 AATM_HUMAN glutamic-oxaloacetic transaminase 2, mitochondrial 121 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) GGCCACTCTTCAAGACTTCGC 0.483000 26 55 0 0 1 0 0 ZNF786 136051 broad.mit.edu 37 7 148768137 148768137 + Missense_Mutation SNP C C G TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr7:148768137C>G ENST00000316286.9 - 3 1741 c.1469G>C c.(1468-1470)aGa>aCa p.R490T ZNF786_ENST00000491431.1_Missense_Mutation_p.R576T|ZNF786_ENST00000451334.3_Missense_Mutation_p.R539T Q8N393 ZN786_HUMAN zinc finger protein 786 576 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2) 26 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) CTTGGATTGTCTGGTGAAGCC 0.637000 4 14 0 0 1 0 0 NAT10 55226 broad.mit.edu 37 11 34145364 34145364 + Missense_Mutation SNP G G A TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr11:34145364G>A ENST00000257829.3 + 10 1176 c.970G>A c.(970-972)Gaa>Aaa p.E324K NAT10_ENST00000527971.1_Intron|NAT10_ENST00000531159.2_Missense_Mutation_p.E252K NM_024662.2 NP_078938 Q9H0A0 NAT10_HUMAN N-acetyltransferase 10 (GCN5-related) 324 nucleolus ATP binding|N-acetyltransferase activity|protein binding endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231) TACTCTGTTTGAATTTGTATT 0.358000 41 103 0 0 1 0 0 LRRC37A2 474170 broad.mit.edu 37 17 44590245 44590245 + Missense_Mutation SNP C C T TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr17:44590245C>T ENST00000576629.1 + 2 662 c.167C>T c.(166-168)cCg>cTg p.P56L LRRC37A2_ENST00000333412.3_Missense_Mutation_p.P56L A6NM11 L37A2_HUMAN leucine rich repeat containing 37, member A2 56 integral to membrane endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2) 15 Melanoma(429;0.211) BRCA - Breast invasive adenocarcinoma(366;0.232) CCCCTGGGGCCGCCTGACTCC 0.607000 10 138 0 0 1 0 0 N4BP1 9683 broad.mit.edu 37 16 48594897 48594897 + Missense_Mutation SNP G G A TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr16:48594897G>A ENST00000262384.3 - 2 1893 c.1657C>T c.(1657-1659)Cat>Tat p.H553Y RP11-44I10.3_ENST00000563994.1_RNA NM_153029.3 NP_694574.3 O75113 N4BP1_HUMAN NEDD4 binding protein 1 553 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) GGCTTAGAATGAGGAGAACTA 0.443000 58 80 0 0 1 0 0 PDE3B 5140 broad.mit.edu 37 11 14852317 14852317 + Silent SNP G G A TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr11:14852317G>A ENST00000282096.4 + 8 2234 c.1881G>A c.(1879-1881)aaG>aaA p.K627K PDE3B_ENST00000455098.2_Silent_p.K576K NM_000922.3 NP_000913.2 Q13370 PDE3B_HUMAN phosphodiesterase 3B, cGMP-inhibited 627 cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 AAACAGAGAAGAAAGACAGCA 0.308000 4 26 0 0 1 0 0 CUBN 8029 broad.mit.edu 37 10 16930500 16930500 + Missense_Mutation SNP C C T TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr10:16930500C>T ENST00000377833.4 - 56 8886 c.8821G>A c.(8821-8823)Gac>Aac p.D2941N NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 2941 CUB 22. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) ATGTTGTTGTCATATTGTTTT 0.378000 74 53 0 0 1 0 0 FOXP1 27086 broad.mit.edu 37 3 71179740 71179740 + Nonsense_Mutation SNP G G T TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr3:71179740G>T ENST00000491238.1 - 1 248 c.95C>A c.(94-96)tCg>tAg p.S32* FOXP1_ENST00000493089.1_Intron|FOXP1_ENST00000468577.1_Intron|FOXP1_ENST00000318789.4_Intron|FOXP1_ENST00000484350.1_Intron|FOXP1_ENST00000475937.1_Intron|FOXP1_ENST00000498215.1_Intron NM_001244815.1 NP_001231744.1 Q9H334 FOXP1_HUMAN forkhead box P1 378 cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209) BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05) CTGTTTCTGCGAAGCGGGGGT 0.483000 T PAX5 ALL 10 39 3.86212e-05 3.97827e-05 1 1 0 CAPRIN1 4076 broad.mit.edu 37 11 34107638 34107638 + Nonsense_Mutation SNP C C T TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr11:34107638C>T ENST00000341394.4 + 10 1183 c.994C>T c.(994-996)Cag>Tag p.Q332* CAPRIN1_ENST00000389645.3_Nonsense_Mutation_p.Q332*|CAPRIN1_ENST00000530820.1_Nonsense_Mutation_p.Q332*|CAPRIN1_ENST00000529307.1_Nonsense_Mutation_p.Q251*|CAPRIN1_ENST00000532820.1_Nonsense_Mutation_p.Q332* NM_005898.4 NP_005889.3 Q14444 CAPR1_HUMAN cell cycle associated protein 1 332 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) GCAGCAACCTCAGGCTGCATC 0.493000 7 27 0 0 1 0 0 GTPBP4 23560 broad.mit.edu 37 10 1042091 1042091 + Silent SNP C C A TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr10:1042091C>A ENST00000360803.4 + 4 451 c.369C>A c.(367-369)ctC>ctA p.L123L GTPBP4_ENST00000538293.1_Silent_p.L7L|GTPBP4_ENST00000491635.1_3'UTR|GTPBP4_ENST00000545048.1_Silent_p.L76L NM_012341.2 NP_036473.2 Q9BZE4 NOG1_HUMAN GTP binding protein 4 123 negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis nucleolus|perinuclear region of cytoplasm GTP binding|GTPase activity|protein binding endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1) 21 all_epithelial(10;0.107)|Colorectal(49;0.14) OV - Ovarian serous cystadenocarcinoma(33;0.0814) Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173) GCGACTCTCTCTACCGCTGCA 0.428000 5 27 1.23904e-05 1.28597e-05 1 1 0 NUP210 23225 broad.mit.edu 37 3 13367425 13367425 + Missense_Mutation SNP G G A TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr3:13367425G>A ENST00000254508.5 - 33 4596 c.4514C>T c.(4513-4515)tCa>tTa p.S1505L NM_024923.2 NP_079199.2 Q8TEM1 PO210_HUMAN nucleoporin 210kDa 1505 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)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_neural(104;0.187) CCAGGTTCCTGAGAGGCCTGG 0.617000 5 62 0 0 1 0 0 PARP8 79668 broad.mit.edu 37 5 50057699 50057699 + Silent SNP C C T TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr5:50057699C>T ENST00000281631.5 + 6 548 c.390C>T c.(388-390)gaC>gaT p.D130D PARP8_ENST00000503750.2_Silent_p.D130D|PARP8_ENST00000514342.2_5'UTR|PARP8_ENST00000514067.2_Silent_p.D130D|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000505697.2_Silent_p.D130D|PARP8_ENST00000505554.1_Silent_p.D109D NM_001178056.1|NM_024615.3 NP_001171527.1|NP_078891.2 Q8N3A8 PARP8_HUMAN poly (ADP-ribose) polymerase family, member 8 130 intracellular NAD+ ADP-ribosyltransferase activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Lung NSC(810;0.0305)|Breast(144;0.222) CTGAAGGTGACAATGATTCCG 0.338000 10 65 0 0 1 0 0 ZNF337 26152 broad.mit.edu 37 20 25655810 25655810 + Missense_Mutation SNP C C G TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr20:25655810C>G ENST00000376436.1 - 4 2653 c.2114G>C c.(2113-2115)aGa>aCa p.R705T ZNF337_ENST00000252979.5_Missense_Mutation_p.R705T|RP4-694B14.5_ENST00000439498.1_RNA|RP4-694B14.5_ENST00000455791.1_RNA|ZNF337_ENST00000538750.1_Missense_Mutation_p.R673T|RP4-694B14.5_ENST00000414393.1_RNA zinc finger protein 337 breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 TGTGTGTATTCTTTCATGCAC 0.453000 75 91 0 0 1 0 0 KCNMA1 3778 broad.mit.edu 37 10 78729748 78729748 + Missense_Mutation SNP A A C TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr10:78729748A>C ENST00000286627.5 - 19 3122 c.2170T>G c.(2170-2172)Tcg>Gcg p.S724A KCNMA1_ENST00000372440.1_Missense_Mutation_p.S724A|KCNMA1_ENST00000406533.3_Missense_Mutation_p.S786A|RP11-443A13.5_ENST00000598613.1_RNA|KCNMA1_ENST00000372443.1_Missense_Mutation_p.S724A|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000286628.8_Missense_Mutation_p.S782A|KCNMA1_ENST00000404771.3_Missense_Mutation_p.S782A|KCNMA1_ENST00000354353.5_Missense_Mutation_p.S785A|RP11-443A13.5_ENST00000600782.1_RNA|KCNMA1_ENST00000404857.1_Missense_Mutation_p.S724A NM_001271519.1|NM_002247.3 NP_001258448.1|NP_002238.2 Q12791 KCMA1_HUMAN potassium large conductance calcium-activated channel, subfamily M, alpha member 1 765 cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 68 all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198) OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021) AGCTTAGGCGAGGTGTTGGGT 0.552000 15 188 0 0 1 0 0 AGTPBP1 23287 broad.mit.edu 37 9 88201871 88201871 + Missense_Mutation SNP G G A TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr9:88201871G>A ENST00000357081.3 - 22 3052 c.2908C>T c.(2908-2910)Cgc>Tgc p.R970C AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.R930C|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.R982C|AGTPBP1_ENST00000432218.1_Intron Q9UPW5 CBPC1_HUMAN ATP/GTP binding protein 1 970 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 AAAGAACAGCGATGACTACAT 0.363000 7 54 0 0 1 0 0 ACOT4 122970 broad.mit.edu 37 14 74062016 74062016 + Missense_Mutation SNP G G A TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr14:74062016G>A ENST00000326303.4 + 3 1178 c.924G>A c.(922-924)atG>atA p.M308I NM_152331.3 NP_689544.3 Q8N9L9 ACOT4_HUMAN acyl-CoA thioesterase 4 308 acyl-CoA metabolic process|dicarboxylic acid metabolic process|long-chain fatty acid metabolic process|saturated monocarboxylic acid metabolic process|short-chain fatty acid metabolic process|succinyl-CoA metabolic process|unsaturated monocarboxylic acid metabolic process|very long-chain fatty acid metabolic process peroxisome carboxylesterase activity|palmitoyl-CoA hydrolase activity endometrium(1)|large_intestine(3)|lung(4) 8 BRCA - Breast invasive adenocarcinoma(234;0.00331) ACCCCAGCATGATTCCAATAG 0.502000 4 38 0 0 1 0 0 SUPT5H 6829 broad.mit.edu 37 19 39963878 39963878 + Missense_Mutation SNP A A G TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr19:39963878A>G ENST00000599117.1 + 25 2661 c.2294A>G c.(2293-2295)tAt>tGt p.Y765C SUPT5H_ENST00000598725.1_Missense_Mutation_p.Y765C|SUPT5H_ENST00000402194.2_Missense_Mutation_p.Y761C|SUPT5H_ENST00000359191.6_Missense_Mutation_p.Y761C|SUPT5H_ENST00000432763.2_Missense_Mutation_p.Y765C O00267 SPT5H_HUMAN suppressor of Ty 5 homolog (S. cerevisiae) 765 9 X 7 AA approximate tandem repeats of G- S-[QR]-T-P-X-[YQ], motif CTR1. cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter nucleoplasm enzyme binding|protein heterodimerization activity breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 51 all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159) Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) ACCTCGACCTATGGGAGGACG 0.647000 10 20 0 0 1 0 0 NLGN1 22871 broad.mit.edu 37 3 173998671 173998671 + Missense_Mutation SNP G G A TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr3:173998671G>A ENST00000457714.1 + 7 2479 c.2050G>A c.(2050-2052)Gca>Aca p.A684T NLGN1_ENST00000401917.3_Missense_Mutation_p.A724T|NLGN1_ENST00000545397.1_Missense_Mutation_p.A684T|NLGN1_ENST00000361589.4_Missense_Mutation_p.A684T NM_014932.2 NP_055747.1 Q8N2Q7 NLGN1_HUMAN neuroligin 1 701 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) TGCAGTTGGAGCATCACTGCT 0.483000 22 46 0 0 1 0 0 OR5V1 81696 broad.mit.edu 37 6 29323565 29323565 + Silent SNP C C G TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr6:29323565C>G ENST00000377154.1 - 4 707 c.408G>C c.(406-408)ctG>ctC p.L136L OR5V1_ENST00000543825.1_Silent_p.L136L Q9UGF6 OR5V1_HUMAN olfactory receptor, family 5, subfamily V, member 1 136 L -> P (found in a renal cell carcinoma sample; somatic mutation). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GAACCTTGCTCAGAATAACTG 0.438000 8 32 0 0 1 0 0 AGAP1 116987 broad.mit.edu 37 2 237028996 237028996 + Missense_Mutation SNP G G A TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr2:237028996G>A ENST00000304032.8 + 17 2855 c.2275G>A c.(2275-2277)Gag>Aag p.E759K AGAP1_ENST00000409538.1_Missense_Mutation_p.E971K|AGAP1_ENST00000428334.2_Missense_Mutation_p.E598K|AGAP1_ENST00000336665.5_Missense_Mutation_p.E706K NM_001037131.2 NP_001032208.1 Q9UPQ3 AGAP1_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm ARF GTPase activator activity|GTP binding|zinc ion binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 CTCCCGGGACGAGGTGAACGA 0.716000 5 38 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16893778 16893778 + Nonsense_Mutation SNP G G C TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr1:16893778G>C ENST00000430580.2 - 25 3622 c.2735C>G c.(2734-2736)tCa>tGa p.S912* NBPF1_ENST00000420031.2_3'UTR|NBPF1_ENST00000432949.1_3'UTR NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 912 NBPF 5. cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TGAAGGAGTTGAATAACATCT 0.483000 30 3294 0 0 1 0 0 ZNF445 353274 broad.mit.edu 37 3 44496871 44496871 + Silent SNP G G A TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr3:44496871G>A ENST00000425708.2 - 2 512 c.171C>T c.(169-171)ctC>ctT p.L57L ZNF445_ENST00000396077.2_Silent_p.L57L P59923 ZN445_HUMAN zinc finger protein 445 57 SCAN box. 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) GCTGTCTGAAGAGCTGGCGGA 0.577000 12 87 0 0 1 0 0 KIAA0408 9729 broad.mit.edu 37 6 127775004 127775004 + Missense_Mutation SNP C C A TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr6:127775004C>A ENST00000483725.3 - 2 459 c.123G>T c.(121-123)aaG>aaT p.K41N SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000368268.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR NM_014702.4 NP_055517.3 Q6ZU52 K0408_HUMAN KIAA0408 41 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) CTTCTATTTTCTTCTGCATAA 0.348000 13 28 1.61879e-10 1.73941e-10 1 1 0 LOC101927060 101927060 broad.mit.edu 37 17 45128685 45128685 + RNA SNP T T C rs145089594 by1000genomes TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr17:45128685T>C ENST00000575173.1 - 0 418 TTCCAGGATATGGCTATACTG 0.303000 5 167 0 0 1 0 0 NAT10 55226 broad.mit.edu 37 11 34139990 34139990 + Silent SNP G G A TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr11:34139990G>A ENST00000257829.3 + 8 926 c.720G>A c.(718-720)gaG>gaA p.E240E NAT10_ENST00000527971.1_Silent_p.E240E|NAT10_ENST00000531159.2_Silent_p.E168E NM_024662.2 NP_078938 Q9H0A0 NAT10_HUMAN N-acetyltransferase 10 (GCN5-related) 240 nucleolus ATP binding|N-acetyltransferase activity|protein binding endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231) AGTTGAAGGAGAGCTTGCAGG 0.527000 5 19 0 0 1 0 0 CAPRIN1 4076 broad.mit.edu 37 11 34101183 34101183 + Missense_Mutation SNP C C G TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr11:34101183C>G ENST00000341394.4 + 7 886 c.697C>G c.(697-699)Cta>Gta p.L233V CAPRIN1_ENST00000389645.3_Missense_Mutation_p.L233V|CAPRIN1_ENST00000530820.1_Missense_Mutation_p.L233V|CAPRIN1_ENST00000529307.1_Missense_Mutation_p.L152V|CAPRIN1_ENST00000532820.1_Missense_Mutation_p.L233V NM_005898.4 NP_005889.3 Q14444 CAPR1_HUMAN cell cycle associated protein 1 233 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) AGATAAAGTTCTAAAGGAAAT 0.383000 16 47 0 0 1 0 0 SOX17 64321 broad.mit.edu 37 8 55372417 55372417 + Missense_Mutation SNP C C A TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr8:55372417C>A ENST00000297316.4 + 2 1311 c.1107C>A c.(1105-1107)ttC>ttA p.F369L NM_022454.3 NP_071899.1 Q9H6I2 SOX17_HUMAN SRY (sex determining region Y)-box 17 369 Sox C-terminal. angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway transcription factor complex beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1) 18 Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181) OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159) ATCTGCACTTCGTGTGCAAGC 0.662000 4 18 1.23904e-05 1.28597e-05 1 1 0 GIMAP2 26157 broad.mit.edu 37 7 150389603 150389603 + Missense_Mutation SNP G G A TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr7:150389603G>A ENST00000223293.5 + 3 323 c.229G>A c.(229-231)Gac>Aac p.D77N NM_015660.2 NP_056475.1 Q9UG22 GIMA2_HUMAN GTPase, IMAP family member 2 77 integral to membrane GTP binding kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TGTCATTATTGACACACCAGA 0.483000 7 35 0 0 1 0 0 PLEC 5339 broad.mit.edu 37 8 145009405 145009405 + Missense_Mutation SNP C C G TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr8:145009405C>G ENST00000322810.4 - 7 1259 c.1090G>C c.(1090-1092)Gag>Cag p.E364Q PLEC_ENST00000436759.2_Missense_Mutation_p.E254Q|PLEC_ENST00000357649.2_Missense_Mutation_p.E231Q|PLEC_ENST00000354589.3_Missense_Mutation_p.E227Q|PLEC_ENST00000527096.1_Missense_Mutation_p.E254Q|PLEC_ENST00000356346.3_Missense_Mutation_p.E213Q|PLEC_ENST00000345136.3_Missense_Mutation_p.E227Q|PLEC_ENST00000398774.2_Missense_Mutation_p.E195Q|PLEC_ENST00000354958.2_Missense_Mutation_p.E205Q NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 364 Actin-binding.|CH 2.|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 AGGTCCCGCTCCGCCACAGAG 0.657000 4 32 0 0 1 0 0 GGTLC1 92086 broad.mit.edu 37 20 23967149 23967149 + Missense_Mutation SNP C C T TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr20:23967149C>T ENST00000335694.4 - 2 304 c.100G>A c.(100-102)Gac>Aac p.D34N GGTLC1_ENST00000278765.4_Missense_Mutation_p.D34N|GGTLC1_ENST00000286890.4_Missense_Mutation_p.D34N NM_178311.2 NP_842563.1 Q9BX51 GGTL1_HUMAN gamma-glutamyltransferase light chain 1 34 gamma-glutamyltransferase activity NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 15 GTGCCCCCGTCATCCGGCATG 0.627000 9 26 0 0 1 0 0 RAPGEF2 9693 broad.mit.edu 37 4 160252903 160252903 + Missense_Mutation SNP C C G TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr4:160252903C>G ENST00000264431.4 + 9 1633 c.1214C>G c.(1213-1215)tCt>tGt p.S405C NM_014247.2 NP_055062.1 Q9Y4G8 RPGF2_HUMAN Rap guanine nucleotide exchange factor (GEF) 2 405 PDZ. cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 70 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.0817) CTTGGAGGCTCTGAGAAGGGA 0.433000 27 72 0 0 1 0 0 WDR47 22911 broad.mit.edu 37 1 109529176 109529176 + Missense_Mutation SNP C C A TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr1:109529176C>A ENST00000357672.3 - 9 2185 c.1810G>T c.(1810-1812)Gta>Tta p.V604L WDR47_ENST00000400794.3_Missense_Mutation_p.V640L|WDR47_ENST00000361054.3_Missense_Mutation_p.V604L|WDR47_ENST00000369965.4_Missense_Mutation_p.V633L|WDR47_ENST00000369962.3_Missense_Mutation_p.V632L O94967 WDR47_HUMAN WD repeat domain 47 632 breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 20 all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822) Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244) TAGGCACATACTCTCAGAGTT 0.373000 8 37 1.12685e-05 1.17846e-05 1 1 0 ESYT2 57488 broad.mit.edu 37 7 158540924 158540924 + Silent SNP G G A TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr7:158540924G>A ENST00000251527.5 - 15 1751 c.1686C>T c.(1684-1686)ttC>ttT p.F562F NM_020728.2 NP_065779.1 A0FGR8 ESYT2_HUMAN extended synaptotagmin-like protein 2 590 C2 2. integral to membrane|plasma membrane breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2) 32 TGTGAATGAAGAAAGTGAAGT 0.328000 34 68 0 0 1 0 0 GEMIN6 79833 broad.mit.edu 37 2 39008788 39008788 + Silent SNP C C T TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr2:39008788C>T ENST00000281950.3 + 3 374 c.258C>T c.(256-258)ttC>ttT p.F86F GEMIN6_ENST00000409566.1_3'UTR|GEMIN6_ENST00000409011.1_3'UTR NM_024775.9 NP_079051.9 Q8WXD5 GEMI6_HUMAN gem (nuclear organelle) associated protein 6 ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly Cajal body|cytosol|spliceosomal complex protein binding kidney(1)|large_intestine(3)|pancreas(1) 5 all_hematologic(82;0.21) TGCATTTGTTCACGTCTGGAG 0.478000 5 25 0 0 1 0 0 PLEKHA5 54477 broad.mit.edu 37 12 19473515 19473515 + Missense_Mutation SNP G G C TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr12:19473515G>C ENST00000538714.1 + 15 2043 c.2039G>C c.(2038-2040)aGa>aCa p.R680T PLEKHA5_ENST00000543806.1_Missense_Mutation_p.R541T|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.R553T|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.R725T|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.R380T|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.R622T|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.R622T|PLEKHA5_ENST00000299275.6_Missense_Mutation_p.R622T|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.R680T NM_001143821.2 NP_001137293.2 Q9HAU0 PKHA5_HUMAN pleckstrin homology domain containing, family A member 5 665 1-phosphatidylinositol binding|protein binding autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804) GATGAAGGTAGAGGCACATTA 0.284000 32 117 0 0 1 0 0 UTRN 7402 broad.mit.edu 37 6 144837963 144837963 + Missense_Mutation SNP C C T TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr6:144837963C>T ENST00000367545.3 + 38 5420 c.5420C>T c.(5419-5421)gCc>gTc p.A1807V NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin 1807 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) GAGGAGAGTGCCCAGATTGAG 0.323000 10 22 0 0 1 0 0 MTUS2 23281 broad.mit.edu 37 13 29600867 29600867 + Missense_Mutation SNP C C T TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr13:29600867C>T ENST00000431530.3 + 1 2120 c.2062C>T c.(2062-2064)Ctt>Ttt p.L688F NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 678 Mediates interaction with MAPRE1. cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 TACCATGCCTCTTCCCCACGA 0.582000 6 17 0 0 1 0 0 NOS1 4842 broad.mit.edu 37 12 117685175 117685175 + Missense_Mutation SNP G G A TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr12:117685175G>A ENST00000317775.6 - 18 3486 c.2801C>T c.(2800-2802)aCc>aTc p.T934I NOS1_ENST00000338101.4_Missense_Mutation_p.T968I|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) 934 Flavodoxin-like. 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) CTTGGCCCAGGTCCTGAAAGC 0.537000 6 34 0 0 1 0 0 NAT10 55226 broad.mit.edu 37 11 34153065 34153065 + Missense_Mutation SNP G G A TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr11:34153065G>A ENST00000257829.3 + 14 1713 c.1507G>A c.(1507-1509)Gaa>Aaa p.E503K NAT10_ENST00000527971.1_Intron|NAT10_ENST00000531159.2_Missense_Mutation_p.E431K NM_024662.2 NP_078938 Q9H0A0 NAT10_HUMAN N-acetyltransferase 10 (GCN5-related) 503 nucleolus ATP binding|N-acetyltransferase activity|protein binding endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231) CCCCTTGCCTGAAGCTTGTGA 0.527000 27 38 0 0 1 0 0 BRINP2 57795 broad.mit.edu 37 1 177247763 177247763 + Silent SNP C C T TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr1:177247763C>T ENST00000361539.4 + 7 1389 c.1077C>T c.(1075-1077)tcC>tcT p.S359S BRINP2_ENST00000478325.1_3'UTR NM_021165.2 NP_066988.1 bone morphogenetic protein/retinoic acid inducible neural-specific 2 359 CAGCTATCTCCCAGTTCTGGG 0.577000 42 187 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16907244 16907244 + Silent SNP G G A TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr1:16907244G>A ENST00000430580.2 - 16 2474 c.1587C>T c.(1585-1587)ctC>ctT p.L529L NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 529 NBPF 2. cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) GGCTACCTGGGAGAATGTTTA 0.423000 41 1408 0 0 1 0 0 LIPE 3991 broad.mit.edu 37 19 42909706 42909706 + Missense_Mutation SNP C C G TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr19:42909706C>G ENST00000244289.4 - 8 2649 c.2373G>C c.(2371-2373)aaG>aaC p.K791N LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000599276.1_RNA NM_005357.2 NP_005348.2 Q05469 LIPS_HUMAN lipase, hormone-sensitive 791 cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process caveola|cytosol hormone-sensitive lipase activity|protein binding breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 32 Prostate(69;0.00682) GGTCCTCCGTCTTTGCACCTG 0.592000 7 20 0 0 1 0 0 CNOT1 23019 broad.mit.edu 37 16 58589740 58589740 + Missense_Mutation SNP T T C TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr16:58589740T>C ENST00000317147.5 - 20 2884 c.2552A>G c.(2551-2553)tAt>tGt p.Y851C CNOT1_ENST00000569732.1_5'UTR|CNOT1_ENST00000569240.1_Missense_Mutation_p.Y846C|CNOT1_ENST00000441024.2_Missense_Mutation_p.Y851C NM_001265612.1|NM_016284.4 NP_001252541.1|NP_057368.3 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 851 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 87 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) TCGCTGGAAATAGCTGTTTGC 0.413000 39 43 0 0 1 0 0 POLR1A 25885 broad.mit.edu 37 2 86254639 86254639 + Silent SNP G G A TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr2:86254639G>A ENST00000263857.6 - 34 5448 c.5070C>T c.(5068-5070)caC>caT p.H1690H POLR1A_ENST00000409681.1_Silent_p.H1629H O95602 RPA1_HUMAN polymerase (RNA) I polypeptide A, 194kDa 1690 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 TCAGCTCATCGTGGGATCCTG 0.547000 4 23 0 0 1 0 0 C1orf127 148345 broad.mit.edu 37 1 11007997 11007997 + Missense_Mutation SNP C C T rs112668844 byFrequency TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr1:11007997C>T ENST00000377004.4 - 12 2194 c.2195G>A c.(2194-2196)cGa>cAa p.R732Q C1orf127_ENST00000377008.4_Missense_Mutation_p.R565Q NM_001170754.1 NP_001164225.1 B7ZLG7 B7ZLG7_HUMAN chromosome 1 open reading frame 127 583 NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5) 32 Ovarian(185;0.249) Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509) CTCCAGGTATCGGGCCTGGTC 0.637000 6 19 0 0 1 0 0 RNF185 91445 broad.mit.edu 37 22 31583100 31583100 + Missense_Mutation SNP C C T TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr22:31583100C>T ENST00000326132.6 + 2 179 c.20C>T c.(19-21)tCg>tTg p.S7L RNF185_ENST00000426256.2_5'UTR|RNF185_ENST00000266252.7_Missense_Mutation_p.S7L NM_152267.3 NP_689480.2 Q96GF1 RN185_HUMAN ring finger protein 185 integral to membrane zinc ion binding NS(1)|large_intestine(1)|lung(3)|skin(1) 6 AAGGGGCCCTCGGCCTCTGCA 0.587000 15 121 0 0 1 0 0 TNS1 7145 broad.mit.edu 37 2 218674653 218674653 + Silent SNP G G A TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr2:218674653G>A ENST00000171887.4 - 30 5306 c.4854C>T c.(4852-4854)atC>atT p.I1618I TNS1_ENST00000430930.1_Silent_p.I1597I|TNS1_ENST00000419504.1_Silent_p.I1604I NM_022648.4 NP_072174.3 Q9HBL0 TENS1_HUMAN tensin 1 1618 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) TGGCTTTAGAGATGGCCTGTG 0.562000 6 16 0 0 1 0 0 ABCC5 10057 broad.mit.edu 37 3 183706417 183706417 + Nonsense_Mutation SNP G G C TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr3:183706417G>C ENST00000334444.6 - 4 626 c.386C>G c.(385-387)tCa>tGa p.S129* ABCC5_ENST00000392579.2_Nonsense_Mutation_p.S129*|ABCC5_ENST00000427120.2_Nonsense_Mutation_p.S129*|ABCC5_ENST00000265586.6_Nonsense_Mutation_p.S129*|ABCC5_ENST00000382494.2_Nonsense_Mutation_p.S129* NM_005688.2 NP_005679.2 O15440 MRP5_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 5 129 integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_cancers(143;1.85e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) GTCTTCCATTGAGAGCTCCCC 0.567000 7 24 0 0 1 0 0 TEX15 56154 broad.mit.edu 37 8 30703862 30703862 + Missense_Mutation SNP C C T TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr8:30703862C>T ENST00000256246.2 - 1 2746 c.2672G>A c.(2671-2673)gGa>gAa p.G891E NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 891 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) ACATCTGCTTCCATCATCTAT 0.313000 16 46 0 0 1 0 0 ZNF624 57547 broad.mit.edu 37 17 16526473 16526473 + Missense_Mutation SNP C C T TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr17:16526473C>T ENST00000311331.7 - 6 1818 c.1727G>A c.(1726-1728)cGt>cAt p.R576H NM_020787.3 NP_065838.2 Q9P2J8 ZN624_HUMAN zinc finger protein 624 576 R -> C (in Ref. 2; BAD18548). 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) AGTATGAATACGCTGATGTAT 0.383000 17 67 0 0 1 0 0 RRBP1 6238 broad.mit.edu 37 20 17617277 17617277 + Missense_Mutation SNP C C T TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr20:17617277C>T ENST00000377813.1 - 6 2585 c.2282G>A c.(2281-2283)cGc>cAc p.R761H RRBP1_ENST00000246043.4_Missense_Mutation_p.R761H|RRBP1_ENST00000455029.2_Missense_Mutation_p.R102H|RRBP1_ENST00000377807.2_Missense_Mutation_p.R328H|RRBP1_ENST00000360807.4_Missense_Mutation_p.R328H Q9P2E9 RRBP1_HUMAN ribosome binding protein 1 761 protein transport|translation|transmembrane transport integral to endoplasmic reticulum membrane|ribosome receptor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6) 28 GGCCTGCATGCGTGCCTGCAC 0.647000 12 38 0 0 1 0 0 UBTD1 80019 broad.mit.edu 37 10 99327762 99327762 + Silent SNP C C T TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr10:99327762C>T ENST00000370664.3 + 2 498 c.162C>T c.(160-162)ttC>ttT p.F54F NM_024954.3 NP_079230.1 Q9HAC8 UBTD1_HUMAN ubiquitin domain containing 1 54 central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(1) 7 Colorectal(252;0.162) Epithelial(162;3.04e-10)|all cancers(201;2.86e-08) GGGATGAGTTCTGGGACACAG 0.627000 4 58 0 0 1 0 0 C12orf60 144608 broad.mit.edu 37 12 14976380 14976380 + Missense_Mutation SNP G G A TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr12:14976380G>A ENST00000330828.2 + 2 715 c.511G>A c.(511-513)Gag>Aag p.E171K C12orf60_ENST00000527783.1_Intron NM_175874.3 NP_787070.2 Q5U649 CL060_HUMAN chromosome 12 open reading frame 60 171 breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2) 9 CACCACATCTGAGAGAACCAG 0.393000 10 36 0 0 1 0 0 VPS13D 55187 broad.mit.edu 37 1 12343332 12343332 + Missense_Mutation SNP C C T TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr1:12343332C>T ENST00000358136.3 + 21 5303 c.5173C>T c.(5173-5175)Ctc>Ttc p.L1725F VPS13D_ENST00000356315.4_Missense_Mutation_p.L1725F NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 1725 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) GCCTCGGTCTCTCCCTTCCCA 0.483000 8 48 0 0 1 0 0 OR4S1 256148 broad.mit.edu 37 11 48328193 48328193 + Missense_Mutation SNP G G T rs61749290 TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr11:48328193G>T ENST00000319988.1 + 1 419 c.419G>T c.(418-420)gGc>gTc p.G140V NM_001004725.1 NP_001004725.1 Q8NGB4 OR4S1_HUMAN olfactory receptor, family 4, subfamily S, member 1 140 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3) 21 CGGAAGTGTGGCCTGCTAGCG 0.577000 9 36 1.12685e-05 1.17846e-05 1 1 0 HACL1 26061 broad.mit.edu 37 3 15642627 15642627 + Missense_Mutation SNP G G C TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr3:15642627G>C ENST00000321169.5 - 2 523 c.156C>G c.(154-156)atC>atG p.I52M HACL1_ENST00000457447.2_Missense_Mutation_p.I52M|HACL1_ENST00000451445.2_Missense_Mutation_p.I52M|HACL1_ENST00000435217.2_Missense_Mutation_p.I52M|HACL1_ENST00000456194.2_Missense_Mutation_p.I52M NM_012260.2 NP_036392.2 Q9UJ83 HACL1_HUMAN 2-hydroxyacyl-CoA lyase 1 52 fatty acid alpha-oxidation peroxisomal matrix carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1) 16 CGATGTACTTGATGCCTAGCT 0.502000 5 37 0 0 1 0 0 SALL1 6299 broad.mit.edu 37 16 51171093 51171093 + Missense_Mutation SNP C C T TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr16:51171093C>T ENST00000440970.1 - 3 4045 c.3614G>A c.(3613-3615)aGc>aAc p.S1205N SALL1_ENST00000566102.1_3'UTR|SALL1_ENST00000541611.1_Missense_Mutation_p.S125N|SALL1_ENST00000251020.4_Missense_Mutation_p.S1302N NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 1302 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) GTTCTCACTGCTTGCCATTTT 0.567000 8 44 0 0 1 0 0 PARP4 143 broad.mit.edu 37 13 25016769 25016769 + Missense_Mutation SNP G G A TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr13:25016769G>A ENST00000381989.3 - 29 3607 c.3502C>T c.(3502-3504)Ctc>Ttc p.L1168F NM_006437.3 NP_006428.2 Q9UKK3 PARP4_HUMAN poly (ADP-ribose) polymerase family, member 4 1168 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) TGTGTTATGAGAGAGTTTTCT 0.269000 7 63 0 0 1 0 0 CD1A 909 broad.mit.edu 37 1 158226606 158226606 + Missense_Mutation SNP C C G TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr1:158226606C>G ENST00000289429.5 + 4 1168 c.635C>G c.(634-636)cCc>cGc p.P212R NM_001763.2 NP_001754.2 P06126 CD1A_HUMAN CD1a molecule 212 Ig-like. antigen processing and presentation|immune response endosome membrane|integral to plasma membrane|MHC class I protein complex p.P212H(1) NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 32 all_hematologic(112;0.0378) Antithymocyte globulin(DB00098) TCCCATGGCCCCAGTCCTGGC 0.532000 12 62 0 0 1 0 0 ETV1 2115 broad.mit.edu 37 7 13946208 13946208 + Missense_Mutation SNP C C A TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr7:13946208C>A ENST00000343495.5 - 11 1641 c.903G>T c.(901-903)gaG>gaT p.E301D ETV1_ENST00000430479.1_Missense_Mutation_p.E319D|ETV1_ENST00000405218.2_Missense_Mutation_p.E319D|ETV1_ENST00000420159.2_Missense_Mutation_p.E261D|ETV1_ENST00000399357.3_Missense_Mutation_p.E216D|ETV1_ENST00000242066.5_Missense_Mutation_p.E301D|ETV1_ENST00000403527.1_Missense_Mutation_p.E279D|ETV1_ENST00000403685.1_Missense_Mutation_p.E301D|ETV1_ENST00000405358.4_Missense_Mutation_p.E333D|ETV1_ENST00000405192.2_Missense_Mutation_p.E296D P50549 ETV1_HUMAN ets variant 1 319 transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 31 ACATTCCTGGCTCTTGTTTGA 0.358000 T """EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3""" """Ewing sarcoma, prostate""" 4 15 0.150653 0.151205 1 1 0 NFRKB 4798 broad.mit.edu 37 11 129743893 129743893 + Missense_Mutation SNP G G A TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr11:129743893G>A ENST00000446488.3 - 21 2400 c.2297C>T c.(2296-2298)tCa>tTa p.S766L NFRKB_ENST00000524794.1_Missense_Mutation_p.S791L|NFRKB_ENST00000304521.5_Missense_Mutation_p.S766L|NFRKB_ENST00000524746.1_Missense_Mutation_p.S766L NM_001143835.1 NP_001137307.1 Q6P4R8 NFRKB_HUMAN nuclear factor related to kappaB binding protein 766 Ser-rich. 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) CATTGTTGGTGAAGACACCAG 0.483000 7 8 0 0 1 0 0 ZNF445 353274 broad.mit.edu 37 3 44496868 44496868 + Silent SNP G G A TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr3:44496868G>A ENST00000425708.2 - 2 515 c.174C>T c.(172-174)ttC>ttT p.F58F ZNF445_ENST00000396077.2_Silent_p.F58F P59923 ZN445_HUMAN zinc finger protein 445 58 SCAN box. 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) GAAGCTGTCTGAAGAGCTGGC 0.582000 12 88 0 0 1 0 0 OR5V1 81696 broad.mit.edu 37 6 29323965 29323965 + Missense_Mutation SNP C C G TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr6:29323965C>G ENST00000377154.1 - 4 307 c.8G>C c.(7-9)aGa>aCa p.R3T OR5V1_ENST00000543825.1_Missense_Mutation_p.R3T Q9UGF6 OR5V1_HUMAN olfactory receptor, family 5, subfamily V, member 1 3 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R3I(1) breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 TTGATTCTTTCTTTCCATGAT 0.348000 17 36 0 0 1 0 0 AKAP7 9465 broad.mit.edu 37 6 131602849 131602849 + Missense_Mutation SNP G G A TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr6:131602849G>A ENST00000431975.2 + 8 1128 c.1030G>A c.(1030-1032)Gag>Aag p.E344K AKAP7_ENST00000342266.4_Missense_Mutation_p.E77K|AKAP7_ENST00000537868.1_Intron|AKAP7_ENST00000263050.3_Missense_Mutation_p.E80K|AKAP7_ENST00000541650.1_Intron|AKAP7_ENST00000368123.4_Missense_Mutation_p.E322K|AKAP7_ENST00000474850.2_Missense_Mutation_p.E100K NM_016377.3 NP_057461.2 O43687 AKA7A_HUMAN A kinase (PRKA) anchor protein 7 100 intracellular signal transduction|ion transport apical plasma membrane|intracellular|lateral plasma membrane protein kinase A binding endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1) 13 Breast(56;0.152) GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345) CAATGACAATGAGAACAACAG 0.542000 4 15 0 0 1 0 0 MYO19 80179 broad.mit.edu 37 17 34856977 34856977 + Missense_Mutation SNP C C T TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr17:34856977C>T ENST00000431794.3 - 22 2701 c.2179G>A c.(2179-2181)Gac>Aac p.D727N MYO19_ENST00000268852.9_Missense_Mutation_p.D527N NM_001163735.1 NP_001157207.1 Q96H55 MYO19_HUMAN myosin XIX 727 mitochondrial outer membrane|myosin complex actin binding|ATP binding|motor activity endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1) 20 Breast(25;0.00957)|Ovarian(249;0.17) Kidney(155;0.104) UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) TCAGCCGAGTCACCAGTTATG 0.562000 13 70 0 0 1 0 0 DSG2 1829 broad.mit.edu 37 18 29099793 29099793 + Missense_Mutation SNP C C A TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr18:29099793C>A ENST00000261590.8 + 3 318 c.109C>A c.(109-111)Ctg>Atg p.L37M DSG2_ENST00000585206.1_Missense_Mutation_p.L37M NM_001943.3 NP_001934.2 Q14126 DSG2_HUMAN desmoglein 2 37 cellular component disassembly involved in apoptosis|homophilic cell adhesion desmosome|integral to membrane calcium ion binding breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(10;0.0068) TGAAAATAAGCTGCTTCCTAA 0.408000 11 57 9.31168e-06 9.81308e-06 1 1 0 ZNF219 51222 broad.mit.edu 37 14 21559617 21559617 + Missense_Mutation SNP G G C TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr14:21559617G>C ENST00000360947.3 - 4 1928 c.1517C>G c.(1516-1518)tCt>tGt p.S506C RP11-998D10.7_ENST00000554733.2_lincRNA|ZNF219_ENST00000421093.2_Missense_Mutation_p.S506C|ZNF219_ENST00000451119.2_Missense_Mutation_p.S506C NM_016423.2 NP_057507.2 Q9P2Y4 ZN219_HUMAN zinc finger protein 219 506 negative regulation of transcription, DNA-dependent integral to membrane|nucleus DNA binding|histamine receptor activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.S506C(1) breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2) 8 all_cancers(95;0.00185) OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08) GBM - Glioblastoma multiforme(265;0.0191) TGAGCGGAAAGATTTTCCGCA 0.612000 18 42 0 0 1 0 0 DDX4 54514 broad.mit.edu 37 5 55083737 55083737 + Missense_Mutation SNP A A G TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr5:55083737A>G ENST00000505374.1 + 15 1173 c.1081A>G c.(1081-1083)Aaa>Gaa p.K361E DDX4_ENST00000353507.5_Missense_Mutation_p.K327E|DDX4_ENST00000514278.2_Missense_Mutation_p.K341E|DDX4_ENST00000354991.5_Missense_Mutation_p.K327E|DDX4_ENST00000511853.1_Missense_Mutation_p.K212E NM_024415.2 NP_077726.1 Q9NQI0 DDX4_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 361 Helicase ATP-binding. multicellular organismal development|sperm motility perinuclear region of cytoplasm|pi-body|piP-body ATP binding|ATP-dependent helicase activity|nucleic acid binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2) 24 Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223) CAGTCGTTTTAAAGAGTTGCA 0.378000 13 95 0 0 1 0 0 GTF3C1 2975 broad.mit.edu 37 16 27517276 27517276 + Missense_Mutation SNP C C G TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr16:27517276C>G ENST00000356183.4 - 10 1729 c.1714G>C c.(1714-1716)Gac>Cac p.D572H GTF3C1_ENST00000561623.1_Missense_Mutation_p.D572H NM_001520.3 NP_001511.2 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1, alpha 220kDa 572 transcription factor TFIIIC complex DNA binding|protein binding p.D572N(1) 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 CTGTTGCTGTCCGCACAGTGG 0.562000 19 68 0 0 1 0 0 DLG5 9231 broad.mit.edu 37 10 79570917 79570917 + Silent SNP G G A TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr10:79570917G>A ENST00000372391.2 - 23 4403 c.4398C>T c.(4396-4398)gtC>gtT p.V1466V DLG5_ENST00000372388.2_Silent_p.V1126V|DLG5_ENST00000459739.1_5'UTR NM_004747.3 NP_004738.3 Q8TDM6 DLG5_HUMAN discs, large homolog 5 (Drosophila) 1466 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) GTGGGTCGATGACAGATGGAT 0.647000 12 142 0 0 1 0 0 ALDH18A1 5832 broad.mit.edu 37 10 97369971 97369971 + Missense_Mutation SNP C C T TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr10:97369971C>T ENST00000371224.2 - 17 2326 c.2189G>A c.(2188-2190)gGt>gAt p.G730D ALDH18A1_ENST00000371221.3_Missense_Mutation_p.G728D NM_002860.3 NP_002851.2 P54886 P5CS_HUMAN aldehyde dehydrogenase 18 family, member A1 730 Gamma-glutamyl phosphate reductase. proline biosynthetic process mitochondrial inner membrane ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Colorectal(252;0.0402) Epithelial(162;9.1e-07)|all cancers(201;2.55e-05) L-Glutamic Acid(DB00142) AAAGCGGTAACCATCAGAAAA 0.498000 11 23 0 0 1 0 0 LOC101927060 101927060 broad.mit.edu 37 17 45128671 45128671 + RNA SNP T T G rs1056072 by1000genomes TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr17:45128671T>G ENST00000575173.1 - 0 418 GCTCACAAAATAAGTTCCAGG 0.323000 4 148 0 0 1 0 0 HIST1H2BG 8339 broad.mit.edu 37 6 26216643 26216643 + Missense_Mutation SNP C C T TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr6:26216643C>T ENST00000244601.3 - 1 229 c.229G>A c.(229-231)Gag>Aag p.E77K NM_003518.3 NP_003509.1 P62807 H2B1C_HUMAN histone cluster 1, H2bg 77 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding p.E77Q(1) endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 8 all_hematologic(11;0.196) CGGGAAGCCTCGCCTGCGATG 0.572000 24 77 0 0 1 0 0 ZNF511 118472 broad.mit.edu 37 10 135165840 135165840 + Missense_Mutation SNP G G C TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr10:135165840G>C ENST00000368554.4 + 8 851 c.829G>C c.(829-831)Gag>Cag p.E277Q PRAP1_ENST00000433452.2_Missense_Mutation_p.E118Q|PRAP1_ENST00000458230.1_Missense_Mutation_p.E109Q|PRAP1_ENST00000423766.1_Missense_Mutation_p.E119Q|PRAP1_ENST00000463201.1_3'UTR Q8NB15 ZN511_HUMAN zinc finger protein 511 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1) 8 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06) CCCTCCGCCTGAGGAGGACCA 0.642000 3 65 0 0 1 0 0 COG7 91949 broad.mit.edu 37 16 23457184 23457184 + Missense_Mutation SNP C C T TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr16:23457184C>T ENST00000307149.5 - 2 453 c.268G>A c.(268-270)Gtc>Atc p.V90I NM_153603.3 NP_705831.1 P83436 COG7_HUMAN component of oligomeric golgi complex 7 90 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) TCCTCCTTGACAAGAATCATC 0.428000 8 36 0 0 1 0 0 NAP1L5 266812 broad.mit.edu 37 4 89618726 89618726 + Missense_Mutation SNP C C G TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr4:89618726C>G ENST00000323061.5 - 1 660 c.180G>C c.(178-180)gaG>gaC p.E60D HERC3_ENST00000402738.1_Intron|HERC3_ENST00000543130.1_Intron|HERC3_ENST00000264345.3_Intron NM_153757.2 NP_715638.1 Q96NT1 NP1L5_HUMAN nucleosome assembly protein 1-like 5 60 nucleosome assembly nucleus protein binding endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 7 OV - Ovarian serous cystadenocarcinoma(123;0.000181) TTGGGGCATTCTCTGCAGGGG 0.592000 18 64 0 0 1 0 0 MMP25 64386 broad.mit.edu 37 16 3107050 3107050 + Silent SNP C C T TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr16:3107050C>T ENST00000336577.4 + 5 915 c.678C>T c.(676-678)gaC>gaT p.D226D RP11-473M20.7_ENST00000570949.1_RNA|RP11-473M20.7_ENST00000573878.1_RNA|RP11-473M20.7_ENST00000572574.1_RNA|RP11-473M20.7_ENST00000576250.1_RNA NM_022468.4 NP_071913.1 Q9NPA2 MMP25_HUMAN matrix metallopeptidase 25 226 inflammatory response|proteolysis anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1) 14 AGGGGACCGACCTGTTTGCCG 0.672000 11 47 0 0 1 0 0 SENP6 26054 broad.mit.edu 37 6 76344528 76344528 + Splice_Site SNP G G T TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr6:76344528G>T ENST00000370014.3 + 5 1077 c.e5+1 SENP6_ENST00000447266.2_Splice_Site|SENP6_ENST00000370010.2_Splice_Site|SENP6_ENST00000327284.8_Splice_Site NM_001100409.1 NP_001093879.1 Q9GZR1 SENP6_HUMAN SUMO1/sentrin specific peptidase 6 proteolysis cytoplasm|nucleus cysteine-type peptidase activity breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(105;0.189) CAGCCCAAAGGTAAGAATTCT 0.343000 7 22 5.68852e-11 6.13644e-11 1 1 0 TIGD2 166815 broad.mit.edu 37 4 90035039 90035039 + Missense_Mutation SNP C C T TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr4:90035039C>T ENST00000317005.2 + 1 1072 c.914C>T c.(913-915)tCa>tTa p.S305L NM_145715.2 NP_663761.1 Q4W5G0 TIGD2_HUMAN tigger transposable element derived 2 305 DDE. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 14 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;3.86e-05) ATGTTGAGTTCAGATGATGGC 0.403000 8 35 0 0 1 0 0 TAF6L 10629 broad.mit.edu 37 11 62554674 62554674 + Missense_Mutation SNP C C T TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr11:62554674C>T ENST00000294168.3 + 11 1976 c.1775C>T c.(1774-1776)tCg>tTg p.S592L TMEM223_ENST00000527073.1_Intron NM_006473.3 NP_006464.1 Q9Y6J9 TAF6L_HUMAN TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa 592 chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent histone deacetylase complex|STAGA complex DNA binding|protein binding|transcription coactivator activity endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1) 16 AGCCCGGCCTCGCGCTACGTG 0.687000 OREG0021030 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 7 0 0 1 0 0 CKS2 1164 broad.mit.edu 37 9 91930099 91930099 + Missense_Mutation SNP C C T TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr9:91930099C>T ENST00000314355.6 + 2 169 c.74C>T c.(73-75)cCc>cTc p.P25L NM_001827.1 NP_001818.1 P33552 CKS2_HUMAN CDC28 protein kinase regulatory subunit 2 25 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 GTTATGTTACCCAGAGAACTT 0.428000 19 66 0 0 1 0 0 PTPRZ1 5803 broad.mit.edu 37 7 121608082 121608082 + Missense_Mutation SNP G G A TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr7:121608082G>A ENST00000393386.2 + 3 613 c.202G>A c.(202-204)Gaa>Aaa p.E68K PTPRZ1_ENST00000449182.1_Missense_Mutation_p.E68K NM_001206838.1|NM_002851.2 NP_001193767.1|NP_002842.2 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, Z polypeptide 1 68 Alpha-carbonic anhydrase. central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 106 CAATATTGATGAAGATCTTAC 0.328000 14 102 0 0 1 0 0 CCDC158 339965 broad.mit.edu 37 4 77288886 77288886 + Missense_Mutation SNP G G T TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr4:77288886G>T ENST00000388914.3 - 11 1543 c.1391C>A c.(1390-1392)tCc>tAc p.S464Y NM_001042784.1 NP_001036249.1 Q5M9N0 CD158_HUMAN coiled-coil domain containing 158 464 breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1) 56 AGTCAAGGAGGATACTTTTTC 0.413000 6 44 8.12818e-05 8.34128e-05 1 1 0 CYP4F22 126410 broad.mit.edu 37 19 15648778 15648778 + Silent SNP C C G TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr19:15648778C>G ENST00000269703.3 + 7 844 c.645C>G c.(643-645)gtC>gtG p.V215V CYP4F22_ENST00000601005.2_Silent_p.V215V NM_173483.3 NP_775754.2 Q6NT55 CP4FN_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 22 endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1) 37 AGAAATGTGTCTTCAGCTACA 0.527000 17 26 0 0 1 0 0 SLC5A7 60482 broad.mit.edu 37 2 108626911 108626911 + Missense_Mutation SNP G G C TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr2:108626911G>C ENST00000264047.2 + 9 1613 c.1337G>C c.(1336-1338)aGa>aCa p.R446T SLC5A7_ENST00000409059.1_Missense_Mutation_p.R446T|SLC5A7_ENST00000540517.1_Missense_Mutation_p.R341T NM_021815.2 NP_068587.1 Q9GZV3 SC5A7_HUMAN solute carrier family 5 (sodium/choline cotransporter), member 7 446 acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Choline(DB00122) CTCTTCCTGAGAATAACTGGA 0.438000 13 55 0 0 1 0 0 SDC3 9672 broad.mit.edu 37 1 31350027 31350027 + Missense_Mutation SNP G G T TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr1:31350027G>T ENST00000336798.7 - 1 1560 c.68C>A c.(67-69)tCc>tAc p.S23Y SDC3_ENST00000339394.6_Intron|SDC3_ENST00000471567.1_Intron O75056 SDC3_HUMAN syndecan 3 355 integral to membrane cytoskeletal protein binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151) STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649) GGGGGTGGGGGAGAGGGAGAG 0.607000 6 6 5.9392e-07 6.30752e-07 1 1 0 TLL2 7093 broad.mit.edu 37 10 98127973 98127973 + Missense_Mutation SNP C C G TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr10:98127973C>G ENST00000357947.3 - 21 3145 c.2920G>C c.(2920-2922)Gaa>Caa p.E974Q NM_012465.3 NP_036597.1 Q9Y6L7 TLL2_HUMAN tolloid-like 2 974 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) TAGATTTCTTCTAATGGCTGA 0.463000 8 27 0 0 1 0 0 THRA 7067 broad.mit.edu 37 17 38244507 38244507 + Missense_Mutation SNP G G C TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr17:38244507G>C ENST00000450525.2 + 8 1227 c.736G>C c.(736-738)Gac>Cac p.D246H THRA_ENST00000394121.4_Missense_Mutation_p.D246H|THRA_ENST00000546243.1_Missense_Mutation_p.D246H|THRA_ENST00000264637.4_Missense_Mutation_p.D246H|THRA_ENST00000584985.1_Missense_Mutation_p.D246H NM_199334.3 NP_955366.1 P10827 THA_HUMAN thyroid hormone receptor, alpha 246 Ligand-binding. 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) GCCTTGCGAAGACCAGATCAT 0.642000 11 23 0 0 1 0 0 CAPRIN1 4076 broad.mit.edu 37 11 34104565 34104565 + Missense_Mutation SNP G G C TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr11:34104565G>C ENST00000341394.4 + 9 1132 c.943G>C c.(943-945)Gag>Cag p.E315Q CAPRIN1_ENST00000389645.3_Missense_Mutation_p.E315Q|CAPRIN1_ENST00000530820.1_Missense_Mutation_p.E315Q|CAPRIN1_ENST00000529307.1_Missense_Mutation_p.E234Q|CAPRIN1_ENST00000532820.1_Missense_Mutation_p.E315Q NM_005898.4 NP_005889.3 Q14444 CAPR1_HUMAN cell cycle associated protein 1 315 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) GCAGGTAGATGAGTGGACAGT 0.363000 21 47 0 0 1 0 0 SEPP1 6414 broad.mit.edu 37 5 42808409 42808409 + Missense_Mutation SNP G G A TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr5:42808409G>A ENST00000514985.1 - 2 303 c.47C>T c.(46-48)tCg>tTg p.S16L SEPP1_ENST00000511224.1_Missense_Mutation_p.S16L|SEPP1_ENST00000507920.1_Missense_Mutation_p.S16L|SEPP1_ENST00000506577.1_Missense_Mutation_p.S16L|SEPP1_ENST00000509276.1_5'UTR NM_005410.2 NP_005401.3 P49908 SEPP1_HUMAN selenoprotein P, plasma, 1 16 response to oxidative stress extracellular region selenium binding kidney(10)|large_intestine(1)|lung(4) 15 TGTTCCTCCCGATGGGAGGAG 0.502000 6 41 0 0 1 0 0 TONSL 4796 broad.mit.edu 37 8 145667764 145667764 + Missense_Mutation SNP C C T TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr8:145667764C>T ENST00000409379.3 - 6 639 c.610G>A c.(610-612)Gcc>Acc p.A204T NM_013432.4 NP_038460.4 Q96HA7 TONSL_HUMAN tonsoku-like, DNA repair protein 204 cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing cytoplasm|nuclear replication fork histone binding|transcription corepressor activity biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1) 26 TTGTAGCGGGCGCGGAATAGG 0.652000 4 40 0 0 1 0 0 LTN1 26046 broad.mit.edu 37 21 30339160 30339160 + Missense_Mutation SNP C C G TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr21:30339160C>G ENST00000389194.2 - 10 1796 c.1791G>C c.(1789-1791)gaG>gaC p.E597D LTN1_ENST00000389195.2_Missense_Mutation_p.E597D|LTN1_ENST00000361371.5_Missense_Mutation_p.E551D NM_015565.2 NP_056380.2 O94822 LTN1_HUMAN listerin E3 ubiquitin protein ligase 1 551 ligase activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2) 60 ATTTTTCATTCTCTTTATTGC 0.368000 9 45 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140347513 140347513 + Missense_Mutation SNP A A T TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr5:140347513A>T ENST00000289269.5 + 1 1694 c.1162A>T c.(1162-1164)Agt>Tgt p.S388C PCDHAC1_ENST00000253807.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron NM_018899.5|NM_031883.2 NP_061722.1|NP_114089.1 Q9Y5I4 PCDC2_HUMAN 388 Cadherin 4. 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) GGCCGTTCTCAGTGTCAATGA 0.547000 11 44 0 0 1 0 0 EPHX1 2052 broad.mit.edu 37 1 226030114 226030114 + Missense_Mutation SNP G G C TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr1:226030114G>C ENST00000366837.4 + 7 1175 c.979G>C c.(979-981)Gag>Cag p.E327Q RP11-285F7.2_ENST00000424332.1_RNA|EPHX1_ENST00000272167.5_Missense_Mutation_p.E327Q NM_000120.3 NP_000111.1 P07099 HYEP_HUMAN epoxide hydrolase 1, microsomal (xenobiotic) 327 aromatic compound catabolic process|response to toxin endoplasmic reticulum membrane|integral to membrane|microsome cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 28 Breast(184;0.197) CTATATTCTAGAGAAGTTTTC 0.587000 19 10 0 0 1 0 0 RP11-435B5.5 0 broad.mit.edu 37 1 143391935 143391936 + RNA INS - - TG TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr1:143391935_143391936insTG ENST00000428624.1 + 0 2065 RP11-435B5.4_ENST00000423249.1_lincRNA ATATATATATATAAAGAGATTG 0.252 9 7 --- --- --- --- GPR75-ASB3 100302652 broad.mit.edu 37 2 53992637 53992638 + Frame_Shift_Ins INS - - T TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr2:53992637_53992638insT ENST00000263634.3 - 2 206_207 c.72_73insA c.(70-75)aaagtcfs p.V25fs GPR75-ASB3_ENST00000406687.1_Intron|GPR75-ASB3_ENST00000394717.2_Intron|GPR75-ASB3_ENST00000482829.1_5'UTR|ASB3_ENST00000406625.2_Frame_Shift_Ins_p.V60fs|ASB3_ENST00000498475.2_Intron|GPR75-ASB3_ENST00000352846.3_Frame_Shift_Ins_p.V63fs NM_016115.4 NP_057199.1 Q2TAI4 Q2TAI4_HUMAN 60 intracellular signal transduction TTCCTTAAGACTTTAACATTGC 0.450 44 77 --- --- --- --- UGT1A3 54659 broad.mit.edu 37 2 234638033 234638034 + Frame_Shift_Ins INS - - GA TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr2:234638033_234638034insGA ENST00000482026.1 + 1 280_281 c.261_262insGA c.(262-264)gaafs p.E88fs UGT1A6_ENST00000305139.6_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A1_ENST00000609767.1_Frame_Shift_Ins_p.E88fs|UGT1A5_ENST00000373414.3_Intron 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) GGACCCAGGATGAATTTGATCG 0.446 26 95 --- --- --- --- NUP155 9631 broad.mit.edu 37 5 37293010 37293010 + Frame_Shift_Del DEL C C - TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr5:37293010delC ENST00000231498.3 - 34 4211 c.4008delG c.(4006-4008)gagfs p.E1336fs NUP155_ENST00000381843.2_Frame_Shift_Del_p.E1277fs|NUP155_ENST00000513532.1_Frame_Shift_Del_p.E1272fs|NUP155_ENST00000502533.1_5'UTR NM_153485.1 NP_705618.1 O75694 NU155_HUMAN nucleoporin 155kDa 1336 carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore protein binding|structural constituent of nuclear pore|transporter activity endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 62 all_lung(31;0.000137) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GGCTGGGATTCTCAACATATC 0.303 22 426 --- --- --- --- CTC-340D7.1 0 broad.mit.edu 37 5 68150971 68150971 + RNA DEL A A - TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr5:68150971delA ENST00000503268.1 - 0 377 p.0?(1) TGCTATGAGCAAAAGTTCTTC 0.408 12 21 --- --- --- --- PRSS3P2 154754 broad.mit.edu 37 7 142482025 142482025 + RNA DEL A A - TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr7:142482025delA ENST00000603901.1 + 0 591 NR_001296.3 TGCAGTGCCCACATGGAGAAG 0.572 2 4 --- --- --- --- B3GAT3 26229 broad.mit.edu 37 11 62387986 62387986 + Frame_Shift_Del DEL A A - TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr11:62387986delA ENST00000531383.1 - 2 446 c.240delT c.(238-240)gttfs p.V80fs B3GAT3_ENST00000534026.1_Frame_Shift_Del_p.V80fs|B3GAT3_ENST00000265471.5_Frame_Shift_Del_p.V80fs O94766 B3GA3_HUMAN beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I) 80 glycosaminoglycan biosynthetic process Golgi membrane|integral to membrane galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|manganese ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1) 12 AGGTGGGGGTAACAACATAGA 0.592 2 4 --- --- --- --- RB1 5925 broad.mit.edu 37 13 48941715 48941716 + Frame_Shift_Ins INS - - T TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr13:48941715_48941716insT ENST00000267163.4 + 10 1163_1164 c.1025_1026insT c.(1024-1029)actcttfs p.L343fs NM_000321.2 NP_000312.2 P06400 RB_HUMAN retinoblastoma 1 343 androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.0?(15)|p.?(7)|p.D340fs*5(1) NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31) 496 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CATGATAAAACTCTTCAGACTG 0.272 6 """D, Mis, N, F, S""" """retinoblastoma, sarcoma, breast, small cell lung""" """retinoblastoma, sarcoma, breast, small cell lung""" Hereditary Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 20 59 --- --- --- --- FBXL19 54620 broad.mit.edu 37 16 30939203 30939204 + Frame_Shift_Ins INS - - C TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr16:30939203_30939204insC ENST00000338343.4 + 5 933_934 c.546_547insC c.(547-549)cccfs p.P183fs FBXL19_ENST00000562319.1_Frame_Shift_Ins_p.P183fs|FBXL19_ENST00000471231.2_5'UTR|FBXL19_ENST00000565690.1_Intron|FBXL19_ENST00000380310.2_Frame_Shift_Ins_p.P203fs Q6PCT2 FXL19_HUMAN F-box and leucine-rich repeat protein 19 203 DNA binding|zinc ion binding breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 16 TGCCTGCCGGGCCCCCCCCGGA 0.708 2 4 --- --- --- --- POLI 11201 broad.mit.edu 37 18 51795958 51795960 + In_Frame_Del DEL CGA CGA - rs140689079 TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr18:51795958_51795960delCGA ENST00000579534.1 + 1 185_187 c.42_44delCGA c.(40-45)ggcgac>ggc p.D17del POLI_ENST00000579434.1_5'UTR|POLI_ENST00000406285.3_In_Frame_Del_p.D17del NM_007195.2 NP_009126.2 Q9UNA4 POLI_HUMAN polymerase (DNA directed) iota 17 DNA repair|DNA replication nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding p.D17delD(1) breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1) 26 Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197) AAGGCGGCGGCGACGACGACGAG 0.729 DNA polymerases (catalytic subunits) 2 4 --- --- --- --- CEP89 84902 broad.mit.edu 37 19 33370160 33370163 + Frame_Shift_Del DEL CAAC CAAC - rs745959 byFrequency TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chr19:33370160_33370163delCAAC ENST00000305768.5 - 19 2345_2348 c.2257_2260delGTTG c.(2257-2262)gttgccfs p.VA753fs NM_032816.3 NP_116205.3 Q96ST8 CEP89_HUMAN centrosomal protein 89kDa centrosome|spindle pole breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 35 AGGCTGGGGGCAACCAGAGCTCTG 0.564 26 55 --- --- --- --- RNA5-8SP6 100873336 broad.mit.edu 37 Y 10037863 10037863 + RNA DEL C C - TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb0d44a6-7aff-4f39-8e91-dbd8e3db6500 fce13c94-2989-4fa7-bd09-07887ded84f4 g.chrY:10037863delC ENST00000515896.1 + 0 100 ATCGACACTTCGAACGCACTT 0.552 4 5 --- --- --- ---