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 CEP128 145508 broad.mit.edu 37 14 81259233 81259233 + Silent SNP C C T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr14:81259233C>T ENST00000555265.1 - 14 1806 c.1431G>A c.(1429-1431)aaG>aaA p.K477K CEP128_ENST00000281129.3_Silent_p.K477K Q6ZU80 CE128_HUMAN centrosomal protein 128kDa 477 centriole|spindle pole NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 51 CTTCCCTCCTCTTCTCCGCCT 0.512000 8 98 0 0 0.038147 0 0 ZNF536 9745 broad.mit.edu 37 19 31039643 31039643 + Silent SNP C C A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr19:31039643C>A ENST00000355537.3 + 4 3264 c.3117C>A c.(3115-3117)gtC>gtA p.V1039V NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 1039 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) GGGTCACAGTCAACTGCAAAG 0.542000 6 35 3.59834e-05 5.32481e-05 0.021553 1 0 GHR 2690 broad.mit.edu 37 5 42689086 42689086 + Missense_Mutation SNP G G T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr5:42689086G>T ENST00000230882.4 + 4 421 c.231G>T c.(229-231)aaG>aaT p.K77N GHR_ENST00000357703.3_Missense_Mutation_p.K55N|GHR_ENST00000537449.1_Intron NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2 NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1 P10912 GHR_HUMAN growth hormone receptor 77 2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Myeloproliferative disorder(839;0.00878) Pegvisomant(DB00082)|Somatropin recombinant(DB00052) ATGGTACAAAGAACCTAGGAC 0.458000 11 111 0.00010058 0.000143058 0.093190 1 0 TTN 7273 broad.mit.edu 37 2 179587009 179587009 + Missense_Mutation SNP G G C TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr2:179587009G>C ENST00000589042.1 - 77 22729 c.22505C>G c.(22504-22506)tCt>tGt p.S7502C TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S6258C|TTN_ENST00000591111.1_Missense_Mutation_p.S7185C NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 7185 Ig-like 57. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCTAGCACTAGAAGATGCTGT 0.413000 4 73 0 0 0.009096 0 0 SGPL1 8879 broad.mit.edu 37 10 72633294 72633294 + Missense_Mutation SNP T T A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr10:72633294T>A ENST00000373202.3 + 12 1446 c.1246T>A c.(1246-1248)Tat>Aat p.Y416N NM_003901.3 NP_003892.2 O95470 SGPL1_HUMAN sphingosine-1-phosphate lyase 1 416 apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process integral to endoplasmic reticulum membrane carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity large_intestine(4) 4 Pyridoxal Phosphate(DB00114) TGAGAACGGCTATGTTGAAGC 0.527000 5 107 0 0 0.029380 0 0 OR5F1 338674 broad.mit.edu 37 11 55761734 55761734 + Missense_Mutation SNP T T A rs140060499 byFrequency TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr11:55761734T>A ENST00000278409.1 - 1 367 c.368A>T c.(367-369)tAt>tTt p.Y123F NM_003697.1 NP_003688.1 O95221 OR5F1_HUMAN olfactory receptor, family 5, subfamily F, member 1 123 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 58 Esophageal squamous(21;0.00448) TATGGCCGCATACCTGTCATA 0.502000 12 95 0 0 0.119110 0 0 POT1 25913 broad.mit.edu 37 7 124510999 124510999 + Missense_Mutation SNP T T A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr7:124510999T>A ENST00000357628.3 - 7 819 c.221A>T c.(220-222)aAa>aTa p.K74I POT1_ENST00000393329.1_Intron NM_015450.2 NP_056265.2 Q9NUX5 POTE1_HUMAN protection of telomeres 1 74 DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase nuclear telomere cap complex|nucleoplasm DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 47 ATCTCCATTTTTATAAATTAT 0.333000 5 48 0 0 0.014758 0 0 TANC2 26115 broad.mit.edu 37 17 61391823 61391823 + Nonsense_Mutation SNP G G T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr17:61391823G>T ENST00000424789.2 + 8 1016 c.1012G>T c.(1012-1014)Gag>Tag p.E338* AC037445.1_ENST00000581421.1_RNA|TANC2_ENST00000389520.4_Nonsense_Mutation_p.E338* NM_025185.3 NP_079461.2 Q9HCD6 TANC2_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 338 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3) 44 CATCACTACAGAGTCAGTGTT 0.458000 12 103 0.000151284 0.000214137 0.105934 1 0 NPHS2 7827 broad.mit.edu 37 1 179526327 179526327 + Silent SNP G G A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr1:179526327G>A ENST00000367615.4 - 5 641 c.573C>T c.(571-573)gcC>gcT p.A191A NPHS2_ENST00000367616.4_Intron NM_014625.2 NP_055440.1 Q9NP85 PODO_HUMAN nephrosis 2, idiopathic, steroid-resistant (podocin) 191 excretion integral to plasma membrane protein binding NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 20 AGTAGCAAATGGCATCTATCT 0.428000 3 71 0 0 0.021553 0 0 MBL2 4153 broad.mit.edu 37 10 54531274 54531274 + Missense_Mutation SNP G G A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr10:54531274G>A ENST00000373968.3 - 1 186 c.122C>T c.(121-123)cCa>cTa p.P41L NM_000242.2 NP_000233.1 P11226 MBL2_HUMAN mannose-binding lectin (protein C) 2, soluble 41 Cys-rich. acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress collagen|extracellular space bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 GTTGATGCCTGGAGAGCTACA 0.542000 4 79 0 0 0.029380 0 0 SI 6476 broad.mit.edu 37 3 164748533 164748533 + Silent SNP T T C TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr3:164748533T>C ENST00000264382.3 - 25 2921 c.2859A>G c.(2857-2859)caA>caG p.Q953Q NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 953 Isomaltase.|P-type 2. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) GTGTGCACTTTTGTTCAGTTG 0.313000 HNSCC(35;0.089) 8 96 0 0 0.058154 0 0 LRP1B 53353 broad.mit.edu 37 2 141665553 141665553 + Missense_Mutation SNP G G T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr2:141665553G>T ENST00000389484.3 - 22 4384 c.3413C>A c.(3412-3414)cCa>cAa p.P1138Q NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 1138 LDL-receptor class A 10. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding p.P1138L(1) NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ATGCTTGGGTGGTCCACACAA 0.463000 TSP Lung(27;0.18) 6 93 0.0215528 0.0244766 0.021553 1 0 ZNF85 7639 broad.mit.edu 37 19 21132799 21132799 + Missense_Mutation SNP G G T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr19:21132799G>T ENST00000601023.1 + 2 1948 c.1302G>T c.(1300-1302)tgG>tgT p.W434C ZNF85_ENST00000345030.6_Missense_Mutation_p.W460C|ZNF85_ENST00000328178.8_Missense_Mutation_p.W493C Q03923 ZNF85_HUMAN zinc finger protein 85 493 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2) 20 GTTTTAAATGGCCCTCAACCC 0.358000 4 28 0.00024832 0.000335289 0.009096 1 0 FLG2 388698 broad.mit.edu 37 1 152328290 152328290 + Missense_Mutation SNP A A G TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr1:152328290A>G ENST00000388718.5 - 3 2044 c.1972T>C c.(1972-1974)Tat>Cat p.Y658H FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 658 Ser-rich. calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCTGATCCATATTGGCCAAAG 0.493000 11 271 0 0 0.093190 0 0 OTOF 9381 broad.mit.edu 37 2 26693553 26693553 + Missense_Mutation SNP C C G TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr2:26693553C>G ENST00000272371.2 - 32 4057 c.3931G>C c.(3931-3933)Ggc>Cgc p.G1311R OTOF_ENST00000338581.6_Missense_Mutation_p.G544R|OTOF_ENST00000402415.3_Missense_Mutation_p.G621R|OTOF_ENST00000403946.3_Missense_Mutation_p.G1311R|OTOF_ENST00000339598.3_Missense_Mutation_p.G544R NM_194248.2 NP_919224.1 Q9HC10 OTOF_HUMAN otoferlin 1311 cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 106 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCCGCAGTGCCcttcttcttc 0.577000 4 37 0 0 0.009096 0 0 MYH1 4619 broad.mit.edu 37 17 10400674 10400674 + Missense_Mutation SNP C C G TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr17:10400674C>G ENST00000226207.5 - 32 4555 c.4461G>C c.(4459-4461)aaG>aaC p.K1487N CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1487 muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity p.K1487N(1) NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 CATTCTTAATCTTAAATAGTT 0.368000 6 47 0 0 0.021553 0 0 DCAF12L2 340578 broad.mit.edu 37 X 125298905 125298905 + Missense_Mutation SNP G G T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chrX:125298905G>T ENST00000538699.1 - 2 1083 c.1003C>A c.(1003-1005)Cgc>Agc p.R335S DCAF12L2_ENST00000360028.2_Missense_Mutation_p.R335S NM_001013628.2 NP_001013650.1 Q5VW00 DC122_HUMAN DDB1 and CUL4 associated factor 12-like 2 335 p.R335C(2) NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3) 64 TGGCGCTGGCGCGGATCCAGG 0.627000 4 71 0.00116845 0.00148205 0.021553 1 0 OR2AK2 391191 broad.mit.edu 37 1 248128876 248128876 + Silent SNP C C A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr1:248128876C>A ENST00000366480.3 + 1 342 c.243C>A c.(241-243)ctC>ctA p.L81L OR2L13_ENST00000366478.2_Intron NM_001004491.1 NP_001004491.1 Q8NG84 O2AK2_HUMAN olfactory receptor, family 2, subfamily AK, member 2 81 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 36 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) TCAGTCAGCTCTCCATCGTTG 0.478000 15 221 0.000422831 0.000568301 0.146539 1 0 MGAT3 4248 broad.mit.edu 37 22 39884033 39884033 + Silent SNP G G A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr22:39884033G>A ENST00000341184.6 + 2 896 c.681G>A c.(679-681)gaG>gaA p.E227E NM_001098270.1|NM_002409.4 NP_001091740.1|NP_002400.3 Q09327 MGAT3_HUMAN mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase 227 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1) 24 Melanoma(58;0.04) GCTTCCACGAGCTGGGCGACG 0.647000 4 11 0 0 0.021553 0 0 PTCD1 26024 broad.mit.edu 37 7 99031021 99031021 + Silent SNP C C A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr7:99031021C>A ENST00000292478.4 - 3 724 c.474G>T c.(472-474)ctG>ctT p.L158L ATP5J2-PTCD1_ENST00000413834.1_Silent_p.L207L|PTCD1_ENST00000555673.1_Silent_p.L207L|PTCD1_ENST00000485746.1_5'UTR NM_015545.3 NP_056360.2 pentatricopeptide repeat domain 1 endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1) 27 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) GCCTCTCAAACAGGTCCAGGG 0.607000 6 91 0.0293803 0.0327317 0.029380 1 0 ZFHX4 79776 broad.mit.edu 37 8 77616704 77616704 + Silent SNP A A T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr8:77616704A>T ENST00000521891.2 + 2 829 c.381A>T c.(379-381)ctA>ctT p.L127L ZFHX4_ENST00000455469.2_Silent_p.L127L|ZFHX4_ENST00000518282.1_Silent_p.L127L|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Silent_p.L127L NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 127 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) TGGAAAATCTAACAGGGGAGA 0.488000 HNSCC(33;0.089) 21 165 0 0 0.055883 0 0 PLEKHM3 389072 broad.mit.edu 37 2 208866199 208866199 + Silent SNP T T A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr2:208866199T>A ENST00000457206.1 - 2 592 c.165A>T c.(163-165)acA>acT p.T55T PLEKHM3_ENST00000427836.2_Silent_p.T55T|PLEKHM3_ENST00000389247.4_Silent_p.T55T Q6ZWE6 PKHM3_HUMAN pleckstrin homology domain containing, family M, member 3 55 intracellular signal transduction metal ion binding central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 CACCATTGTCTGTTATGTTAC 0.483000 7 156 0 0 0.029380 0 0 GKN1 56287 broad.mit.edu 37 2 69204659 69204659 + Silent SNP A A T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr2:69204659A>T ENST00000377938.2 + 2 150 c.87A>T c.(85-87)ctA>ctT p.L29L NM_019617.3 NP_062563.3 Q9NS71 GKN1_HUMAN gastrokine 1 29 digestion|positive regulation of cell division extracellular region breast(2)|large_intestine(4)|lung(5) 11 GAGTCTTTCTAGCTCCTGCCC 0.373000 12 79 0 0 0.132662 0 0 TLK2 11011 broad.mit.edu 37 17 60650587 60650587 + Missense_Mutation SNP G G T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr17:60650587G>T ENST00000582809.1 + 13 1236 c.533G>T c.(532-534)aGg>aTg p.R178M TLK2_ENST00000343388.7_Missense_Mutation_p.R295M|TLK2_ENST00000346027.5_Missense_Mutation_p.R327M|TLK2_ENST00000326270.9_Missense_Mutation_p.R327M|TLK2_ENST00000542523.1_Missense_Mutation_p.R295M Q86UE8 TLK2_HUMAN tousled-like kinase 2 327 cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus nucleus ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1) 39 CAACAGGAAAGGATAAATTCA 0.428000 3 37 0.004672 0.0056566 0.115264 1 0 SPATA31D1 389763 broad.mit.edu 37 9 84607291 84607291 + Missense_Mutation SNP T T G TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr9:84607291T>G ENST00000344803.2 + 4 1953 c.1906T>G c.(1906-1908)Ttg>Gtg p.L636V NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 GCAGGAAAGTTTGTGGGGCTT 0.478000 4 97 0 0 0.009096 0 0 DOCK4 9732 broad.mit.edu 37 7 111418396 111418396 + Missense_Mutation SNP C C A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr7:111418396C>A ENST00000428084.1 - 36 3887 c.3615G>T c.(3613-3615)gaG>gaT p.E1205D DOCK4_ENST00000494651.2_Missense_Mutation_p.E79D|DOCK4_ENST00000437633.1_Missense_Mutation_p.E1196D Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 1196 DHR-2. cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4) 72 Acute lymphoblastic leukemia(1;0.0441) TATACATCTCCTCCTTGTTCA 0.393000 6 127 0.00198382 0.00247344 0.029380 1 0 TMCO4 255104 broad.mit.edu 37 1 20063897 20063897 + Missense_Mutation SNP T T A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr1:20063897T>A ENST00000294543.6 - 13 1473 c.1232A>T c.(1231-1233)tAc>tTc p.Y411F TMCO4_ENST00000489814.1_5'UTR|TMCO4_ENST00000375127.1_Missense_Mutation_p.Y411F|TMCO4_ENST00000375122.2_Missense_Mutation_p.Y371F NM_181719.4 NP_859070.3 Q5TGY1 TMCO4_HUMAN transmembrane and coiled-coil domains 4 411 integral to membrane biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1) 19 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223) CAGACAGAAGTAGATGACTCT 0.517000 7 84 0 0 0.058154 0 0 RAB38 23682 broad.mit.edu 37 11 87882916 87882916 + Missense_Mutation SNP A A T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr11:87882916A>T ENST00000243662.6 - 2 492 c.410T>A c.(409-411)aTg>aAg p.M137K NM_022337.2 NP_071732.1 P57729 RAB38_HUMAN RAB38, member RAS oncogene family 137 protein transport|small GTPase mediated signal transduction melanosome|plasma membrane GTP binding|GTPase activity large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 11 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) GCCATTGTTCATGAGCACATC 0.428000 16 162 0 0 0.033300 0 0 AKR1B10 57016 broad.mit.edu 37 7 134222956 134222956 + Missense_Mutation SNP G G T rs149850087 TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr7:134222956G>T ENST00000359579.4 + 8 1072 c.752G>T c.(751-753)cGt>cTt p.R251L NM_020299.4 NP_064695.3 O60218 AK1BA_HUMAN aldo-keto reductase family 1, member B10 (aldose reductase) 251 cellular aldehyde metabolic process|digestion|steroid metabolic process cytoplasm aldo-keto reductase (NADP) activity|protein binding NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5) 20 GTTCTGATCCGTTTCCATATC 0.493000 8 153 0.0381472 0.0423376 0.038147 1 0 SLC7A4 6545 broad.mit.edu 37 22 21384605 21384605 + Missense_Mutation SNP G G T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr22:21384605G>T ENST00000382932.2 - 3 1085 c.1018C>A c.(1018-1020)Ctg>Atg p.L340M SLC7A4_ENST00000403586.1_Missense_Mutation_p.L340M NM_004173.2 NP_004164.2 O43246 CTR4_HUMAN solute carrier family 7, member 4 340 cellular amino acid metabolic process integral to membrane basic amino acid transmembrane transporter activity breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2) 18 all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) ATGCGTGGCAGGGAGAAGAGG 0.652000 3 13 0.115264 0.125548 0.115264 1 0 DOPEY1 23033 broad.mit.edu 37 6 83846908 83846908 + Silent SNP C C A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr6:83846908C>A ENST00000349129.2 + 21 3407 c.3147C>A c.(3145-3147)ctC>ctA p.L1049L DOPEY1_ENST00000369739.3_Silent_p.L1040L|DOPEY1_ENST00000237163.5_Silent_p.L1030L NM_015018.3 NP_055833.2 Q5JWR5 DOP1_HUMAN dopey family member 1 1049 protein transport breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 67 all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203) BRCA - Breast invasive adenocarcinoma(397;0.053) AAGTACAACTCATCACATCAA 0.323000 4 47 0.00909568 0.0106177 0.009096 1 0 LRRC16B 90668 broad.mit.edu 37 14 24538410 24538410 + Silent SNP C C T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr14:24538410C>T ENST00000342740.5 + 39 4201 c.4047C>T c.(4045-4047)tcC>tcT p.S1349S LRRC16B_ENST00000334420.7_Silent_p.S402S NM_138360.3 NP_612369.3 Q8ND23 LR16B_HUMAN leucine rich repeat containing 16B 1349 breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 52 GBM - Glioblastoma multiforme(265;0.019) GGGCACAGTCCTGTGACAAGC 0.612000 4 8 0 0 0.009096 0 0 MED7 9443 broad.mit.edu 37 5 156566062 156566062 + Silent SNP T T A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr5:156566062T>A ENST00000286317.5 - 2 762 c.381A>T c.(379-381)cgA>cgT p.R127R MED7_ENST00000420343.1_Silent_p.R127R NM_004270.4 NP_004261.1 O43513 MED7_HUMAN mediator complex subunit 7 127 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex|transcription factor complex protein binding|transcription coactivator activity kidney(1)|large_intestine(1)|lung(3)|urinary_tract(2) 7 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CTTGGTGGGGTCGGTATTCAT 0.418000 6 43 0 0 0.021553 0 0 ZFHX4 79776 broad.mit.edu 37 8 77617862 77617862 + Missense_Mutation SNP T T A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr8:77617862T>A ENST00000521891.2 + 2 1987 c.1539T>A c.(1537-1539)agT>agA p.S513R ZFHX4_ENST00000455469.2_Missense_Mutation_p.S513R|ZFHX4_ENST00000518282.1_Missense_Mutation_p.S513R|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Missense_Mutation_p.S513R NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 513 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) TATCATCCAGTGTGCTAAAAT 0.418000 HNSCC(33;0.089) 5 44 0 0 0.014758 0 0 NCAN 1463 broad.mit.edu 37 19 19338661 19338661 + Silent SNP C C A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr19:19338661C>A ENST00000252575.5 + 8 2275 c.2232C>A c.(2230-2232)gcC>gcA p.A744A NCAN_ENST00000538881.1_Silent_p.A195A NM_004386.2 NP_004377.2 O14594 NCAN_HUMAN neurocan 744 axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 Epithelial(12;0.00544) CTGAGACTGCCACTGAGCCAA 0.587000 5 40 0.00198382 0.00247344 0.029380 1 0 DHX35 60625 broad.mit.edu 37 20 37617507 37617507 + Missense_Mutation SNP G G T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr20:37617507G>T ENST00000252011.3 + 5 430 c.397G>T c.(397-399)Ggc>Tgc p.G133C DHX35_ENST00000373323.4_Missense_Mutation_p.G102C|DHX35_ENST00000373325.2_Missense_Mutation_p.G133C NM_021931.3 NP_068750.2 Q9H5Z1 DHX35_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 35 133 Helicase ATP-binding. catalytic step 2 spliceosome ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2) 40 Myeloproliferative disorder(115;0.00878) CCACGAGGTGGGCTACTGCAT 0.483000 10 73 0.000673444 0.000884839 0.069234 1 0 CCDC114 93233 broad.mit.edu 37 19 48801477 48801477 + Missense_Mutation SNP C C A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr19:48801477C>A ENST00000315396.7 - 11 1932 c.1250G>T c.(1249-1251)cGg>cTg p.R417L NM_144577.3 NP_653178.3 Q96M63 CC114_HUMAN coiled-coil domain containing 114 417 cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1) 24 all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143) CTCCACCAGCCGCTTCTCAAT 0.642000 3 20 0.004672 0.0056566 0.115264 1 0 CDH23 64072 broad.mit.edu 37 10 73569700 73569700 + Missense_Mutation SNP A A G TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr10:73569700A>G ENST00000224721.6 + 60 8866 c.8861A>G c.(8860-8862)tAc>tGc p.Y2954C CDH23_ENST00000398788.3_Missense_Mutation_p.Y709C|CDH23_ENST00000475158.1_3'UTR NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 2949 Cadherin 27. D -> N. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 ATCGGCATCTACATCCTGAGG 0.597000 7 56 0 0 0.047766 0 0 OIT3 170392 broad.mit.edu 37 10 74658669 74658669 + Missense_Mutation SNP G G T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr10:74658669G>T ENST00000334011.5 + 2 527 c.309G>T c.(307-309)caG>caT p.Q103H NM_152635.1 NP_689848.1 Q8WWZ8 OIT3_HUMAN oncoprotein induced transcript 3 103 nuclear envelope calcium ion binding autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2) 35 Prostate(51;0.0198) TGCAACGCCAGGCTTGTGCCA 0.567000 4 28 0.00909568 0.0106177 0.009096 1 0 SLC11A1 6556 broad.mit.edu 37 2 219251378 219251378 + Missense_Mutation SNP G G T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr2:219251378G>T ENST00000233202.6 + 5 754 c.414G>T c.(412-414)tgG>tgT p.W138C SLC11A1_ENST00000473367.1_3'UTR|SLC11A1_ENST00000539932.1_Missense_Mutation_p.W20C NM_000578.3 NP_000569.3 P49279 NRAM1_HUMAN solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1 138 activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 19 Renal(207;0.0474) Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCGTCCTCTGGCTGACCATCG 0.567000 3 13 0.115264 0.125548 0.115264 1 0 TEP1 7011 broad.mit.edu 37 14 20837598 20837598 + Missense_Mutation SNP G G C TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr14:20837598G>C ENST00000262715.5 - 53 7601 c.7561C>G c.(7561-7563)Cca>Gca p.P2521A TEP1_ENST00000556935.1_Missense_Mutation_p.P2413A NM_007110.4 NP_009041.2 Q99973 TEP1_HUMAN telomerase-associated protein 1 2521 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) CAGGTAGATGGGTCTGTCCCT 0.507000 10 54 0 0 0.069234 0 0 CTNND2 1501 broad.mit.edu 37 5 11098731 11098731 + Missense_Mutation SNP C C A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr5:11098731C>A ENST00000304623.8 - 15 2782 c.2593G>T c.(2593-2595)Ggg>Tgg p.G865W CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Missense_Mutation_p.G774W|CTNND2_ENST00000359640.2_Intron|CTNND2_ENST00000458100.2_Missense_Mutation_p.G432W|CTNND2_ENST00000503622.1_Missense_Mutation_p.G528W NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 865 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 CCTGCCGCCCCTTCCAGCGTG 0.517000 4 38 0.0293803 0.0327317 0.029380 1 0 HELZ 9931 broad.mit.edu 37 17 65214798 65214798 + Missense_Mutation SNP C C A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr17:65214798C>A ENST00000358691.5 - 4 289 c.123G>T c.(121-123)atG>atT p.M41I HELZ_ENST00000580662.1_5'UTR|HELZ_ENST00000580168.1_Missense_Mutation_p.M41I NM_014877.3 NP_055692.2 helicase with zinc finger NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) TGAAGTCTGCCATGGAGTACT 0.458000 7 65 2.0095e-06 3.13182e-06 0.029380 1 0 LRRC7 57554 broad.mit.edu 37 1 70494020 70494020 + Missense_Mutation SNP A A T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr1:70494020A>T ENST00000310961.5 + 19 2280 c.1862A>T c.(1861-1863)aAg>aTg p.K621M RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000035383.5_Missense_Mutation_p.K616M|LRRC7_ENST00000415775.2_Intron Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 616 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 TATGAACACAAGTGGCCGGTA 0.393000 4 44 0 0 0.021553 0 0 BTN3A2 11118 broad.mit.edu 37 6 26370770 26370770 + Silent SNP A A T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr6:26370770A>T ENST00000356386.2 + 5 842 c.654A>T c.(652-654)gtA>gtT p.V218V BTN3A2_ENST00000527422.1_Silent_p.V218V|BTN3A2_ENST00000508906.2_Silent_p.V176V|BTN3A2_ENST00000532994.1_3'UTR|BTN3A2_ENST00000396934.3_Silent_p.V195V|BTN3A2_ENST00000396948.1_Silent_p.V218V|BTN3A2_ENST00000377708.2_Silent_p.V218V NM_001197246.2|NM_001197247.1|NM_007047.3 NP_001184175.1|NP_001184176.1|NP_008978.2 P78410 BT3A2_HUMAN butyrophilin, subfamily 3, member A2 218 integral to membrane central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5) 10 GGGAGGGTGTATCCTGCATCA 0.542000 10 113 0 0 0.069234 0 0 SHISA9 729993 broad.mit.edu 37 16 13297311 13297311 + Missense_Mutation SNP C C T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr16:13297311C>T ENST00000558583.1 + 3 1197 c.875C>T c.(874-876)cCa>cTa p.P292L SHISA9_ENST00000424107.3_Missense_Mutation_p.P251L|AC009134.1_ENST00000571939.1_RNA NM_001145204.2 NP_001138676.2 B4DS77 SHSA9_HUMAN shisa family member 9 251 regulation of short-term neuronal synaptic plasticity cell junction|dendritic spine membrane|ionotropic glutamate receptor complex|synapse breast(1)|endometrium(2)|kidney(1)|lung(2)|prostate(1)|skin(2) 9 ATGGGCCATCCACATTCGTAC 0.547000 3 13 0 0 0.009096 0 0 DNAH10 196385 broad.mit.edu 37 12 124382375 124382375 + Missense_Mutation SNP G G T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr12:124382375G>T ENST00000409039.3 + 54 9010 c.8985G>T c.(8983-8985)ttG>ttT p.L2995F NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 2995 AAA 4 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) ATGTTGTCTTGGTTCACCAAT 0.388000 4 82 0.000602214 0.000794815 0.014758 1 0 MTOR 2475 broad.mit.edu 37 1 11175493 11175493 + Missense_Mutation SNP C C A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr1:11175493C>A ENST00000361445.4 - 51 7125 c.7049G>T c.(7048-7050)aGt>aTt p.S2350I MTOR_ENST00000376838.1_Missense_Mutation_p.S555I NM_004958.3 NP_004949.1 P42345 MTOR_HUMAN mechanistic target of rapamycin (serine/threonine kinase) 2350 PI3K/PI4K. cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 149 GATCTTCCCACTCAGACGGTC 0.478000 6 115 0.00198382 0.00247344 0.029380 1 0 ACAP2 23527 broad.mit.edu 37 3 195063241 195063241 + Nonsense_Mutation SNP T T A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr3:195063241T>A ENST00000326793.6 - 6 717 c.487A>T c.(487-489)Aga>Tga p.R163* NM_012287.5 NP_036419.3 Q15057 ACAP2_HUMAN ArfGAP with coiled-coil, ankyrin repeat and PH domains 2 163 BAR. regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2) 27 AAACATTTTCTTGTTGCTGTC 0.363000 7 62 0 0 0.029380 0 0 FAP 2191 broad.mit.edu 37 2 163075644 163075644 + Missense_Mutation SNP G G T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr2:163075644G>T ENST00000188790.4 - 8 743 c.536C>A c.(535-537)cCa>cAa p.P179Q FAP_ENST00000443424.1_Missense_Mutation_p.P154Q NM_004460.2 NP_004451.2 Q12884 SEPR_HUMAN fibroblast activation protein, alpha 179 endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4) 63 TTGAAAAGGTGGATCTCCTGG 0.328000 5 89 0.0293803 0.0327317 0.029380 1 0 GTF2IRD2P1 401375 broad.mit.edu 37 7 72657818 72657818 + RNA SNP G G T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr7:72657818G>T ENST00000425256.1 - 0 2093 NR_002164.1 atacatctgcgtgacgatttg 0.498000 11 109 1.05317e-09 1.81517e-09 0.119110 1 0 GRHL3 57822 broad.mit.edu 37 1 24663023 24663023 + Silent SNP C C G TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr1:24663023C>G ENST00000361548.4 + 4 548 c.318C>G c.(316-318)ccC>ccG p.P106P GRHL3_ENST00000356046.2_Silent_p.P60P|GRHL3_ENST00000350501.5_Silent_p.P106P|GRHL3_ENST00000236255.4_Silent_p.P111P|GRHL3_ENST00000530984.1_3'UTR|GRHL3_ENST00000342072.4_Silent_p.P13P NM_198173.2 NP_937816.1 Q8TE85 GRHL3_HUMAN grainyhead-like 3 (Drosophila) 106 regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143) TTGAAAGCCCCACACACCTCA 0.517000 4 75 0 0 0.014758 0 0 OR7C1 26664 broad.mit.edu 37 19 14910178 14910178 + Silent SNP C C A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr19:14910178C>A ENST00000248073.2 - 1 845 c.771G>T c.(769-771)ggG>ggT p.G257G OR7A5_ENST00000601611.1_Intron NM_198944.1 NP_945182.1 O76099 OR7C1_HUMAN olfactory receptor, family 7, subfamily C, member 1 257 sensory perception of smell|spermatogenesis integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1) 18 TGAGATAGACCCCAAAGCCCG 0.522000 7 66 2.0095e-06 3.13182e-06 0.029380 1 0 THAP2 83591 broad.mit.edu 37 12 72068146 72068146 + Missense_Mutation SNP A A G TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr12:72068146A>G ENST00000308086.2 + 2 1736 c.235A>G c.(235-237)Att>Gtt p.I79V RP11-293I14.2_ENST00000548802.1_Missense_Mutation_p.I55V NM_031435.3 NP_113623.1 Q9H0W7 THAP2_HUMAN THAP domain containing, apoptosis associated protein 2 79 nucleolus DNA binding|metal ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1) 10 TGTTCCAACCATTTTTGATTT 0.353000 5 31 0 0 0.021553 0 0 PCK1 5105 broad.mit.edu 37 20 56140518 56140518 + Silent SNP C C A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr20:56140518C>A ENST00000319441.4 + 10 1691 c.1527C>A c.(1525-1527)ccC>ccA p.P509P PCK1_ENST00000535860.1_3'UTR|PCK1_ENST00000543666.1_Silent_p.P192P NM_002591.3 NP_002582.3 P35558 PCKGC_HUMAN phosphoenolpyruvate carboxykinase 1 (soluble) 509 gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus cytosol|nucleus carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 34 Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07) CCAAACTGCCCAAGATCTTCC 0.557000 4 41 0.00024832 0.000335289 0.009096 1 0 CDH8 1006 broad.mit.edu 37 16 61760956 61760956 + Nonsense_Mutation SNP G G T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr16:61760956G>T ENST00000584337.1 - 9 2099 c.1578C>A c.(1576-1578)taC>taA p.Y526* CDH8_ENST00000577390.1_Intron|CDH8_ENST00000299345.6_Intron|CDH8_ENST00000577730.1_Intron P55286 CADH8_HUMAN cadherin 8, type 2 636 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) TGAGACAGTTGTATACAAACA 0.373000 8 86 1.12685e-05 1.70189e-05 0.047766 1 0 DDX25 29118 broad.mit.edu 37 11 125778309 125778309 + Missense_Mutation SNP A A G TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr11:125778309A>G ENST00000263576.6 + 6 573 c.418A>G c.(418-420)Ata>Gta p.I140V DDX25_ENST00000525943.1_3'UTR|RP11-680F20.9_ENST00000533033.2_RNA NM_013264.4 NP_037396.3 Q9UHL0 DDX25_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 25 140 Helicase ATP-binding. mRNA export from nucleus|multicellular organismal development|regulation of translation|spermatid development chromatoid body|nucleus ATP binding|ATP-dependent RNA helicase activity|RNA binding breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1) 10 all_hematologic(175;0.177) Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046) CCAGAACCTCATAGCACAGAG 0.433000 6 346 0 0 0.038147 0 0 ITGAM 3684 broad.mit.edu 37 16 31309111 31309111 + Missense_Mutation SNP C C A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr16:31309111C>A ENST00000544665.3 + 14 1617 c.1546C>A c.(1546-1548)Caa>Aaa p.Q516K ITGAM_ENST00000287497.8_Missense_Mutation_p.Q515K NM_000632.3|NM_001145808.1 NP_000623.2|NP_001139280.1 P11215 ITAM_HUMAN integrin, alpha M (complement component 3 receptor 3 subunit) 515 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1) 56 GGAGCAGGGCCAACCCTGGGG 0.632000 7 117 0.000157383 0.000218546 0.038147 1 0 NOTCH2 4853 broad.mit.edu 37 1 120458384 120458384 + Missense_Mutation SNP C C A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr1:120458384C>A ENST00000256646.2 - 34 7180 c.6961G>T c.(6961-6963)Gct>Tct p.A2321S NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 2321 anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) GGCTGGGGAGCCCCCGCTGGT 0.622000 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 5 57 0.0215528 0.0244766 0.021553 1 0 LRRC66 339977 broad.mit.edu 37 4 52861612 52861612 + Missense_Mutation SNP C C A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr4:52861612C>A ENST00000343457.3 - 4 1582 c.1576G>T c.(1576-1578)Gac>Tac p.D526Y NM_001024611.1 NP_001019782.1 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 526 integral to membrane central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 58 TGGATGTGGTCCTGCGCTGCT 0.512000 12 128 7.03913e-09 1.17185e-08 0.093190 1 0 NOTCH4 4855 broad.mit.edu 37 6 32184944 32184944 + Missense_Mutation SNP C C A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr6:32184944C>A ENST00000375023.3 - 10 1862 c.1724G>T c.(1723-1725)tGc>tTc p.C575F NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 575 EGF-like 14; calcium-binding (Potential). cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 GAGACACTTGCAGTGGAAGGC 0.617000 5 32 0.0293803 0.0327317 0.029380 1 0 VWCE 220001 broad.mit.edu 37 11 61026770 61026770 + Silent SNP G G A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr11:61026770G>A ENST00000335613.5 - 20 2631 c.2245C>T c.(2245-2247)Ctg>Ttg p.L749L VWCE_ENST00000535710.1_Silent_p.L214L NM_152718.2 NP_689931.2 Q96DN2 VWCE_HUMAN von Willebrand factor C and EGF domains 749 extracellular region calcium ion binding biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 TTTTCTTCCAGAGGAGACAGG 0.567000 7 37 0 0 0.047766 0 0 ARR3 407 broad.mit.edu 37 X 69500067 69500067 + Missense_Mutation SNP G G C TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chrX:69500067G>C ENST00000374495.3 + 13 1026 c.928G>C c.(928-930)Gag>Cag p.E310Q ARR3_ENST00000307959.8_Missense_Mutation_p.E310Q P36575 ARRC_HUMAN arrestin 3, retinal (X-arrestin) 310 signal transduction|visual perception cytoplasm|soluble fraction endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1) 16 AATGGACAAAGAGCTGCTGGG 0.502000 13 175 0 0 0.119110 0 0 PDE4A 5141 broad.mit.edu 37 19 10571737 10571737 + Missense_Mutation SNP G G T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr19:10571737G>T ENST00000380702.2 + 12 1357 c.1357G>T c.(1357-1359)Gtg>Ttg p.V453L PDE4A_ENST00000293683.5_Missense_Mutation_p.V449L|PDE4A_ENST00000352831.6_Missense_Mutation_p.V475L|PDE4A_ENST00000592685.1_Missense_Mutation_p.V453L|PDE4A_ENST00000440014.2_Missense_Mutation_p.V414L|PDE4A_ENST00000344979.3_Missense_Mutation_p.V236L P27815 PDE4A_HUMAN phosphodiesterase 4A, cAMP-specific 475 Catalytic. signal transduction cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06) Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277) CATCCACGATGTGGATCACCC 0.602000 3 35 0.00024832 0.000335289 0.009096 1 0 UGT2B4 7363 broad.mit.edu 37 4 70361152 70361152 + Nonsense_Mutation SNP G G T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr4:70361152G>T ENST00000305107.6 - 1 474 c.428C>A c.(427-429)tCa>tAa p.S143* UGT2B4_ENST00000512583.1_Nonsense_Mutation_p.S143*|UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Intron NM_021139.2 NP_066962.2 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B4 143 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 47 ATCAAATCTTGACTCCTGTAG 0.383000 5 29 2.7689e-08 4.53233e-08 0.029380 1 0 GC 2638 broad.mit.edu 37 4 72631341 72631341 + Missense_Mutation SNP T T A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr4:72631341T>A ENST00000273951.8 - 4 624 c.281A>T c.(280-282)aAg>aTg p.K94M GC_ENST00000504199.1_Missense_Mutation_p.K113M|GC_ENST00000513476.1_Missense_Mutation_p.K94M|GC_ENST00000503472.1_Intron NM_000583.3|NM_001204306.1 NP_000574.2|NP_001191235.1 P02774 VTDB_HUMAN group-specific component (vitamin D binding protein) 94 Albumin 1. hormone biosynthetic process|vitamin D metabolic process cytosol|lysosomal lumen actin binding|vitamin D binding|vitamin transporter activity endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 45 all_hematologic(202;0.107) Lung(101;0.148) Cholecalciferol(DB00169) TTCACAGGACTTGGCAGACAG 0.443000 6 67 0 0 0.021553 0 0 ITGA4 3676 broad.mit.edu 37 2 182339745 182339745 + Missense_Mutation SNP G G T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr2:182339745G>T ENST00000397033.2 + 3 808 c.378G>T c.(376-378)tgG>tgT p.W126C ITGA4_ENST00000478440.1_3'UTR|ITGA4_ENST00000339307.4_Missense_Mutation_p.W126C NM_000885.4 NP_000876.3 P13612 ITA4_HUMAN integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) 126 blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) ACAATCAGTGGTTGGGGGTCA 0.433000 4 55 0.00116845 0.00148205 0.021553 1 0 EML1 2009 broad.mit.edu 37 14 100380643 100380643 + Splice_Site SNP T T C TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr14:100380643T>C ENST00000262233.6 + 14 1759 c.e14+2 EML1_ENST00000334192.4_Splice_Site|EML1_ENST00000327921.9_Splice_Site NM_004434.2 NP_004425.2 O00423 EMAL1_HUMAN echinoderm microtubule associated protein like 1 cytoplasm|microtubule|microtubule associated complex calcium ion binding|protein binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Melanoma(154;0.0879)|all_epithelial(191;0.216) ATTACTCAGGTACGATCCCAC 0.488000 5 71 0 0 0.021553 0 0 KMT2C 58508 broad.mit.edu 37 7 151860827 151860827 + Missense_Mutation SNP T T C TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr7:151860827T>C ENST00000355193.2 - 43 10053 c.9835A>G c.(9835-9837)Acc>Gcc p.T3279A KMT2C_ENST00000262189.6_Missense_Mutation_p.T3279A lysine (K)-specific methyltransferase 2C GGCATCATGGTAGGTGGGGCC 0.502000 3 72 0 0 0.009096 0 0 RAP2C 57826 broad.mit.edu 37 X 131351168 131351168 + Missense_Mutation SNP C C A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chrX:131351168C>A ENST00000342983.2 - 2 875 c.129G>T c.(127-129)gaG>gaT p.E43D RAP2C_ENST00000370874.1_Missense_Mutation_p.E43D|RAP2C_ENST00000460462.1_5'UTR NM_001271186.1|NM_001271187.1|NM_021183.3 NP_001258115.1|NP_001258116.1|NP_067006.3 Q9Y3L5 RAP2C_HUMAN RAP2C, member of RAS oncogene family 43 negative regulation of cell migration|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of protein tyrosine kinase activity recycling endosome membrane GTP binding|GTPase activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2) 8 Acute lymphoblastic leukemia(192;0.000127) CCACTTCGATCTCTTTGCGGT 0.498000 7 111 2.0095e-06 3.13182e-06 0.029380 1 0 DPP4 1803 broad.mit.edu 37 2 162894882 162894882 + Silent SNP T T A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr2:162894882T>A ENST00000360534.3 - 8 1103 c.543A>T c.(541-543)ccA>ccT p.P181P NM_001935.3 NP_001926.2 P27487 DPP4_HUMAN dipeptidyl-peptidase 4 181 cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 48 Sitagliptin(DB01261) TTCTGTAACTTGGTAAATTTG 0.289000 3 30 0 0 0.115264 0 0 CRMP1 1400 broad.mit.edu 37 4 5862927 5862927 + Nonsense_Mutation SNP C C A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr4:5862927C>A ENST00000324989.7 - 3 569 c.481G>T c.(481-483)Gag>Tag p.E161* CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000512574.1_Nonsense_Mutation_p.E45*|CRMP1_ENST00000397890.2_Nonsense_Mutation_p.E47* NM_001014809.1 NP_001014809.1 Q14194 DPYL1_HUMAN collapsin response mediator protein 1 47 axon guidance|pyrimidine base catabolic process cytosol|microtubule organizing center|spindle dihydropyrimidinase activity|protein binding NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 36 Colorectal(103;0.0721) ATTAAGTTCTCTCCTATTTGT 0.473000 10 75 9.70103e-10 1.69191e-09 0.069234 1 0 YEATS2 55689 broad.mit.edu 37 3 183446631 183446631 + Silent SNP G G T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr3:183446631G>T ENST00000305135.5 + 7 999 c.804G>T c.(802-804)gtG>gtT p.V268V NM_018023.4 NP_060493.3 Q9ULM3 YETS2_HUMAN YEATS domain containing 2 268 YEATS. histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex TBP-class protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3) 49 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) ATGACCTTGTGGAAGTTAGGT 0.378000 5 51 0.00116845 0.00148205 0.021553 1 0 DCK 1633 broad.mit.edu 37 4 71863875 71863875 + Silent SNP T T A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr4:71863875T>A ENST00000286648.5 + 2 580 c.183T>A c.(181-183)gtT>gtA p.V61V MOB1B_ENST00000511449.1_3'UTR|DCK_ENST00000504730.1_Silent_p.V61V|DCK_ENST00000504952.1_Silent_p.V61V NM_000788.2 NP_000779.1 P27707 DCK_HUMAN deoxycytidine kinase 61 purine base metabolic process|purine-containing compound salvage|pyrimidine base metabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process cytosol|nucleus ATP binding|deoxycytidine kinase activity|drug binding|phosphotransferase activity, alcohol group as acceptor|protein homodimerization activity endometrium(2)|large_intestine(3)|lung(3)|ovary(1) 9 Lung(101;0.235) Cladribine(DB00242)|Clofarabine(DB00631)|Decitabine(DB01262)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Pemetrexed(DB00642)|Zalcitabine(DB00943) GGTGCAATGTTCAAAGTACTC 0.358000 5 56 0 0 0.021553 0 0 CNTNAP2 26047 broad.mit.edu 37 7 146818111 146818111 + Silent SNP G G C TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr7:146818111G>C ENST00000361727.3 + 6 1311 c.795G>C c.(793-795)gtG>gtC p.V265V NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 265 Laminin G-like 1. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) ACACATCAGTGATGACAGGAA 0.517000 HNSCC(39;0.1) 7 67 0 0 0.047766 0 0 CNGA4 1262 broad.mit.edu 37 11 6265516 6265516 + Missense_Mutation SNP G G T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr11:6265516G>T ENST00000379936.2 + 6 1720 c.1605G>T c.(1603-1605)caG>caT p.Q535H NM_001037329.3 NP_001032406.1 Q8IV77 CNGA4_HUMAN cyclic nucleotide gated channel alpha 4 535 response to stimulus|sensory perception of smell cAMP binding endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1) 40 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGGAGTGGCAGACTCGAGAGT 0.587000 6 43 0.00116845 0.00148205 0.021553 1 0 AL033381.1 0 broad.mit.edu 37 6 1102098 1102098 + Missense_Mutation SNP C C G TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr6:1102098C>G ENST00000314040.1 + 3 352 c.82C>G c.(82-84)Ctc>Gtc p.L28V CAGCTCTGCCCTCCCCACATC 0.428000 3 26 0 0 0.115264 0 0 OR1F2P 26184 broad.mit.edu 37 16 3266034 3266034 + RNA SNP C C G TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr16:3266034C>G ENST00000576468.1 + 0 418 GCTCTGTGCCCTGCTGGTCAC 0.557000 3 42 0 0 0.009096 0 0 KCNQ5 56479 broad.mit.edu 37 6 73904438 73904438 + Missense_Mutation SNP G G T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr6:73904438G>T ENST00000342056.2 + 15 2555 c.2157G>T c.(2155-2157)caG>caT p.Q719H KCNQ5_ENST00000402622.2_Missense_Mutation_p.Q710H|KCNQ5_ENST00000403813.2_Missense_Mutation_p.Q691H|KCNQ5_ENST00000370398.1_Missense_Mutation_p.Q700H|KCNQ5_ENST00000355635.3_Missense_Mutation_p.Q701H|KCNQ5_ENST00000355194.4_Missense_Mutation_p.Q700H|KCNQ5_ENST00000414165.2_Missense_Mutation_p.Q590H NM_001160132.1|NM_001160133.1 NP_001153604.1|NP_001153605.1 Q9NR82 KCNQ5_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 5 700 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) TCAGTGCCCAGACTTTCTACG 0.517000 18 131 8.34094e-07 1.33546e-06 0.049695 1 0 TRPS1 7227 broad.mit.edu 37 8 116632198 116632198 + Missense_Mutation SNP C C G TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr8:116632198C>G ENST00000395715.3 - 3 704 c.127G>C c.(127-129)Gta>Cta p.V43L TRPS1_ENST00000520276.1_Missense_Mutation_p.V34L|TRPS1_ENST00000519076.1_Missense_Mutation_p.V30L|TRPS1_ENST00000519674.1_Missense_Mutation_p.V30L|TRPS1_ENST00000220888.5_Missense_Mutation_p.V30L NM_014112.2 NP_054831.2 Q9UHF7 TRPS1_HUMAN trichorhinophalangeal syndrome I 30 negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 111 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) TTTCCAGATACCTTGCTTTCT 0.443000 Langer-Giedion syndrome 5 50 0 0 0.029380 0 0 TP53 7157 broad.mit.edu 37 17 7578556 7578556 + Splice_Site SNP T T A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr17:7578556T>A ENST00000420246.2 - 5 508 c.e5-2 TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.?(34)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) AGGGGAGTACTGTAGGAAGAG 0.552000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 3 43 0 0 0.115264 0 0 SLCO5A1 81796 broad.mit.edu 37 8 70585416 70585416 + Silent SNP G G C TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr8:70585416G>C ENST00000260126.3 - 10 2941 c.2235C>G c.(2233-2235)ctC>ctG p.L745L SLCO5A1_ENST00000524945.1_3'UTR|SLCO5A1_ENST00000530307.1_Silent_p.L690L NM_030958.2 NP_112220.2 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, member 5A1 745 integral to membrane|plasma membrane transporter activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) CAACGAATTTGAGGCCGGCAG 0.488000 18 155 0 0 0.043863 0 0 ZNF682 91120 broad.mit.edu 37 19 20117104 20117104 + Missense_Mutation SNP C C A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr19:20117104C>A ENST00000397165.2 - 4 1367 c.1207G>T c.(1207-1209)Ggc>Tgc p.G403C ZNF682_ENST00000597972.1_Missense_Mutation_p.G409C|ZNF682_ENST00000595736.1_Missense_Mutation_p.G327C|ZNF682_ENST00000397162.1_Missense_Mutation_p.G371C|ZNF682_ENST00000358523.5_Missense_Mutation_p.G371C|ZNF682_ENST00000596019.1_Intron NM_033196.2 NP_149973.1 O95780 ZN682_HUMAN zinc finger protein 682 403 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1) 14 AAAGCTTTGCCACATTCTTCA 0.373000 5 53 3.59834e-05 5.32481e-05 0.021553 1 0 PCK1 5105 broad.mit.edu 37 20 56138640 56138640 + Missense_Mutation SNP C C A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr20:56138640C>A ENST00000319441.4 + 6 982 c.818C>A c.(817-819)cCt>cAt p.P273H PCK1_ENST00000535860.1_Missense_Mutation_p.P141H|PCK1_ENST00000543666.1_Intron NM_002591.3 NP_002582.3 P35558 PCKGC_HUMAN phosphoenolpyruvate carboxykinase 1 (soluble) 273 gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus cytosol|nucleus carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 34 Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07) ATAACCAACCCTGAGGGTGAG 0.542000 4 38 0.00909568 0.0106177 0.009096 1 0 APBB1IP 54518 broad.mit.edu 37 10 26790049 26790049 + Missense_Mutation SNP G G C TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr10:26790049G>C ENST00000356785.4 + 5 695 c.462G>C c.(460-462)atG>atC p.M154I APBB1IP_ENST00000376236.4_Intron Q7Z5R6 AB1IP_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein 0 Poly-Glu. blood coagulation|signal transduction cytoskeleton|cytosol|focal adhesion|lamellipodium central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1) 45 AGGTAAGTATGTGGGACCAGA 0.488000 12 134 0 0 0.119110 0 0 ADCY5 111 broad.mit.edu 37 3 123044228 123044228 + Missense_Mutation SNP C C G TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr3:123044228C>G ENST00000462833.1 - 8 3241 c.2029G>C c.(2029-2031)Gag>Cag p.E677Q ADCY5_ENST00000309879.5_Missense_Mutation_p.E327Q|ADCY5_ENST00000491190.1_Missense_Mutation_p.E310Q NM_183357.2 NP_899200.1 O95622 ADCY5_HUMAN adenylate cyclase 5 677 activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(114;0.0342) AAGGGGCGCTCAGCCCCCCAG 0.587000 4 72 0 0 0.014758 0 0 C17orf47 284083 broad.mit.edu 37 17 56621484 56621484 + Missense_Mutation SNP T T G TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr17:56621484T>G ENST00000321691.3 - 1 245 c.64A>C c.(64-66)Act>Cct p.T22P RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA NM_001038704.2 NP_001033793.2 Q8NEP4 CQ047_HUMAN chromosome 17 open reading frame 47 22 NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 24 Medulloblastoma(34;0.127)|all_neural(34;0.237) GTGTTAGTAGTAACCTCAGAC 0.512000 8 72 0 0 0.047766 0 0 KIF13A 63971 broad.mit.edu 37 6 17873668 17873668 + Missense_Mutation SNP C C A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr6:17873668C>A ENST00000378816.5 - 4 264 c.160G>T c.(160-162)Gta>Tta p.V54L KIF13A_ENST00000378814.5_Splice_Site_p.V54_splice|KIF13A_ENST00000378826.2_Splice_Site_p.V54_splice|KIF13A_ENST00000378843.2_Splice_Site_p.V54_splice|KIF13A_ENST00000259711.6_Splice_Site_p.V54_splice Q9H1H9 KI13A_HUMAN kinesin family member 13A 54 Kinesin-motor. cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane ATP binding|microtubule motor activity|protein binding breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) AAGGCAAATACCTGAATGAAA 0.353000 6 14 0.00116845 0.00148205 0.021553 1 0 TP53 7157 broad.mit.edu 37 17 7578555 7578555 + Splice_Site SNP C C A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr17:7578555C>A ENST00000420246.2 - 5 508 c.e5-1 TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.?(39)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CAGGGGAGTACTGTAGGAAGA 0.552000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 4 43 0.00909568 0.0106177 0.009096 1 0 NKAIN2 154215 broad.mit.edu 37 6 124979487 124979487 + Nonsense_Mutation SNP C C A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr6:124979487C>A ENST00000368417.1 + 4 489 c.429C>A c.(427-429)taC>taA p.Y143* NKAIN2_ENST00000546092.1_Intron|NKAIN2_ENST00000368416.1_Nonsense_Mutation_p.Y143*|NKAIN2_ENST00000545433.1_Nonsense_Mutation_p.Y128* NM_001040214.1 NP_001035304.1 Q5VXU1 NKAI2_HUMAN Na+/K+ transporting ATPase interacting 2 143 integral to membrane|plasma membrane cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2) 19 GBM - Glioblastoma multiforme(226;0.104) TGCTGGAGTACCAGTACATAG 0.532000 14 98 1.49906e-05 2.25243e-05 0.119110 1 0 LEPR 3953 broad.mit.edu 37 1 66074555 66074555 + Missense_Mutation SNP G G A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr1:66074555G>A ENST00000349533.6 + 12 1908 c.1723G>A c.(1723-1725)Ggt>Agt p.G575S LEPR_ENST00000406510.3_Intron|LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000371058.1_Missense_Mutation_p.G575S|LEPR_ENST00000344610.8_Missense_Mutation_p.G575S|LEPR_ENST00000371060.3_Missense_Mutation_p.G575S|LEPR_ENST00000371059.3_Missense_Mutation_p.G575S NM_002303.5 NP_002294.2 P48357 LEPR_HUMAN leptin receptor 575 Fibronectin type-III 2. energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2) 36 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) GATTCGCTATGGTTTAAGTGG 0.318000 6 63 0 0 0.021553 0 0 ADAM12 8038 broad.mit.edu 37 10 127760135 127760135 + Missense_Mutation SNP G G C TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr10:127760135G>C ENST00000368679.4 - 12 1552 c.1243C>G c.(1243-1245)Ctg>Gtg p.L415V ADAM12_ENST00000368676.4_Missense_Mutation_p.L415V NM_003474.4 NP_003465.3 O43184 ADA12_HUMAN ADAM metallopeptidase domain 12 415 Peptidase M12B. cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216) ACTTCCGGCAGGTTAAACAGG 0.542000 12 169 0 0 0.093190 0 0 EXPH5 23086 broad.mit.edu 37 11 108398907 108398907 + Missense_Mutation SNP C C T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr11:108398907C>T ENST00000265843.4 - 4 558 c.448G>A c.(448-450)Gat>Aat p.D150N EXPH5_ENST00000428840.1_Missense_Mutation_p.D74N|EXPH5_ENST00000524840.1_5'UTR|EXPH5_ENST00000443411.1_Intron|EXPH5_ENST00000525344.1_Missense_Mutation_p.D143N NM_015065.2 NP_055880.2 Q149M6 Q149M6_HUMAN exophilin 5 150 intracellular protein transport Rab GTPase binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1) 91 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) GCATGGCCATCACATCTGTGG 0.403000 6 92 0 0 0.029380 0 0 GRID2 2895 broad.mit.edu 37 4 94690496 94690496 + Silent SNP A A T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr4:94690496A>T ENST00000282020.4 + 15 2754 c.2496A>T c.(2494-2496)gcA>gcT p.A832A GRID2_ENST00000510992.1_Silent_p.A737A NM_001510.2 NP_001501.2 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 832 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) AGAGCTTTGCAGGGGTCTTTT 0.527000 18 78 0 0 0.062417 0 0 ILDR2 387597 broad.mit.edu 37 1 166904656 166904656 + Silent SNP G G T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr1:166904656G>T ENST00000271417.3 - 6 817 c.762C>A c.(760-762)ccC>ccA p.P254P ILDR2_ENST00000526687.1_Intron|ILDR2_ENST00000528703.1_Intron|ILDR2_ENST00000529071.1_Silent_p.P235P|ILDR2_ENST00000469934.2_Silent_p.P254P|ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000525740.1_Intron NM_199351.2 NP_955383.1 Q71H61 ILDR2_HUMAN immunoglobulin-like domain containing receptor 2 254 integral to membrane NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 22 AGTAAGGGCCGGGGACACCGG 0.592000 4 80 0.00024832 0.000335289 0.009096 1 0 C19orf57 79173 broad.mit.edu 37 19 13996797 13996797 + Silent SNP A A T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr19:13996797A>T ENST00000454313.1 - 7 1798 c.1740T>A c.(1738-1740)gtT>gtA p.V580V C19orf57_ENST00000591586.1_Silent_p.V155V|C19orf57_ENST00000586783.1_Silent_p.V580V|C19orf57_ENST00000346736.2_Silent_p.V580V Q0VDD7 CS057_HUMAN chromosome 19 open reading frame 57 580 multicellular organismal development protein binding breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(19;2e-21) TGGCCACTGCAACAGGGTCTC 0.597000 5 21 0 0 0.021553 0 0 VDR 7421 broad.mit.edu 37 12 48238661 48238661 + Silent SNP G G A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr12:48238661G>A ENST00000229022.3 - 11 1433 c.1152C>T c.(1150-1152)atC>atT p.I384I VDR_ENST00000550325.1_Silent_p.I434I|VDR_ENST00000549336.1_Silent_p.I384I|VDR_ENST00000395324.2_Silent_p.I384I|VDR_ENST00000535672.1_Silent_p.I352I NM_001017535.1 NP_001017535.1 P11473 VDR_HUMAN vitamin D (1,25- dihydroxyvitamin D3) receptor 384 Ligand-binding. decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2) 22 Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214) GBM - Glioblastoma multiforme(48;0.17) Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910) CTAGCTTCTGGATCATCTTGG 0.617000 4 48 0 0 0.009096 0 0 TFAP2D 83741 broad.mit.edu 37 6 50686809 50686809 + Missense_Mutation SNP G G A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr6:50686809G>A ENST00000008391.3 + 3 772 c.544G>A c.(544-546)Gtg>Atg p.V182M TFAP2D_ENST00000492804.1_3'UTR NM_172238.3 NP_758438.2 Q7Z6R9 AP2D_HUMAN transcription factor AP-2 delta (activating enhancer binding protein 2 delta) 182 DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1) 60 Lung NSC(77;0.0334) TAAGGGCTCTGTGGAGGCCCA 0.403000 6 38 0 0 0.021553 0 0 A1CF 29974 broad.mit.edu 37 10 52595851 52595851 + Missense_Mutation SNP C C A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr10:52595851C>A ENST00000395489.2 - 8 962 c.566G>T c.(565-567)aGg>aTg p.R189M A1CF_ENST00000373993.1_Missense_Mutation_p.R196M|A1CF_ENST00000373995.3_Missense_Mutation_p.R204M|A1CF_ENST00000395495.1_Missense_Mutation_p.R196M|A1CF_ENST00000373997.3_Missense_Mutation_p.R196M|A1CF_ENST00000374001.1_Missense_Mutation_p.R196M|A1CF_ENST00000282641.2_Missense_Mutation_p.R196M NM_001198819.1 NP_001185748.1 Q9NQ94 A1CF_HUMAN APOBEC1 complementation factor 196 RRM 2. cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3) 29 CAGTTTCCTCCTCGCCATGGC 0.478000 12 112 4.7546e-09 8.0526e-09 0.146539 1 0 LRFN2 57497 broad.mit.edu 37 6 40360441 40360441 + Silent SNP G G A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr6:40360441G>A ENST00000338305.6 - 3 2153 c.1611C>T c.(1609-1611)gtC>gtT p.V537V NM_020737.1 NP_065788.1 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III domain containing 2 537 cell junction|integral to membrane|postsynaptic membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Ovarian(28;0.0418)|Colorectal(47;0.196) TGCCCCCGATGACCAGGATCA 0.617000 6 60 0 0 0.038147 0 0 FGFR2 2263 broad.mit.edu 37 10 123243279 123243279 + Missense_Mutation SNP G G T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr10:123243279G>T ENST00000358487.5 - 17 2506 c.2234C>A c.(2233-2235)tCc>tAc p.S745Y FGFR2_ENST00000356226.4_Missense_Mutation_p.S628Y|FGFR2_ENST00000351936.6_Missense_Mutation_p.S743Y|FGFR2_ENST00000369059.1_Missense_Mutation_p.S631Y|FGFR2_ENST00000457416.2_Missense_Mutation_p.S746Y|FGFR2_ENST00000369061.4_Missense_Mutation_p.S633Y|FGFR2_ENST00000346997.2_Missense_Mutation_p.S743Y|FGFR2_ENST00000357555.5_Missense_Mutation_p.S656Y|FGFR2_ENST00000369056.1_Missense_Mutation_p.S746Y|FGFR2_ENST00000478859.1_Missense_Mutation_p.S517Y|FGFR2_ENST00000369060.4_Missense_Mutation_p.S629Y|FGFR2_ENST00000360144.3_Missense_Mutation_p.S657Y NM_000141.4 NP_000132.3 P21802 FGFR2_HUMAN fibroblast growth factor receptor 2 745 Protein kinase. angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2) 181 Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107) STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722) all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845) Palifermin(DB00039) TGGTCTCTGGGAGGGCACTGC 0.448000 5 Mis """gastric. NSCLC, endometrial""" """Crouzon, Pfeiffer, and Apert syndromes""" Saethre-Chotzen syndrome;Apert syndrome 3 29 0.004672 0.0056566 0.115264 1 0 GAS2L3 283431 broad.mit.edu 37 12 101018250 101018250 + Missense_Mutation SNP C C T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr12:101018250C>T ENST00000537247.1 + 10 2309 c.1355C>T c.(1354-1356)tCg>tTg p.S452L GAS2L3_ENST00000266754.5_Missense_Mutation_p.S556L|GAS2L3_ENST00000539410.1_Missense_Mutation_p.S556L|GAS2L3_ENST00000547754.1_Missense_Mutation_p.S556L Q86XJ1 GA2L3_HUMAN growth arrest-specific 2 like 3 556 cell cycle arrest endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 35 AAACTTAAATCGGCCTTGAAT 0.433000 5 24 0 0 0.029380 0 0 NID2 22795 broad.mit.edu 37 14 52486794 52486794 + Missense_Mutation SNP C C G TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr14:52486794C>G ENST00000216286.5 - 13 2776 c.2777G>C c.(2776-2778)gGa>gCa p.G926A NID2_ENST00000541773.1_Missense_Mutation_p.G825A NM_007361.3 NP_031387.3 Q14112 NID2_HUMAN nidogen 2 (osteonidogen) 926 EGF-like 5; calcium-binding (Potential). basement membrane calcium ion binding|collagen binding NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 87 Breast(41;0.0639)|all_epithelial(31;0.123) GCACTGAAATCCATCCCCATA 0.453000 5 101 0 0 0.038147 0 0 KCNC2 3747 broad.mit.edu 37 12 75441978 75441978 + Missense_Mutation SNP T T A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr12:75441978T>A ENST00000549446.1 - 4 2415 c.1735A>T c.(1735-1737)Acg>Tcg p.T579S KCNC2_ENST00000393288.2_Missense_Mutation_p.T579S|KCNC2_ENST00000550433.1_Missense_Mutation_p.T579S|KCNC2_ENST00000341669.3_Missense_Mutation_p.T579S|KCNC2_ENST00000298972.1_Missense_Mutation_p.T579S|KCNC2_ENST00000540018.1_Intron|KCNC2_ENST00000548513.1_Missense_Mutation_p.T579S|KCNC2_ENST00000350228.2_Intron NM_001260497.1|NM_139137.3 NP_001247426.1|NP_631875.1 Q96PR1 KCNC2_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 2 579 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex voltage-gated potassium channel activity breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 54 TCACCTGTCGTCAGTAGGAAA 0.468000 7 193 0 0 0.047766 0 0 MUC16 94025 broad.mit.edu 37 19 9085343 9085343 + Missense_Mutation SNP C C T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr19:9085343C>T ENST00000397910.4 - 1 6675 c.6472G>A c.(6472-6474)Ggc>Agc p.G2158S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 2158 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GATGTAAGGCCAGAAACATCT 0.488000 17 89 0 0 0.038395 0 0 NRP2 8828 broad.mit.edu 37 2 206590765 206590765 + Missense_Mutation SNP G G T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr2:206590765G>T ENST00000360409.3 + 6 1740 c.949G>T c.(949-951)Ggc>Tgc p.G317C NRP2_ENST00000540178.1_Missense_Mutation_p.G317C|NRP2_ENST00000357785.5_Missense_Mutation_p.G317C|NRP2_ENST00000412873.2_Missense_Mutation_p.G317C|NRP2_ENST00000357118.4_Missense_Mutation_p.G317C|NRP2_ENST00000272849.3_Missense_Mutation_p.G317C|NRP2_ENST00000540841.1_Missense_Mutation_p.G317C|NRP2_ENST00000417189.1_Missense_Mutation_p.G317C|NRP2_ENST00000355117.4_Missense_Mutation_p.G317C NM_003872.2|NM_201266.1|NM_201279.1 NP_003863.2|NP_957718.1|NP_958436.1 O60462 NRP2_HUMAN neuropilin 2 317 F5/8 type C 1. angiogenesis|axon guidance|cell adhesion integral to membrane|membrane fraction|plasma membrane heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 52 TGATGACAATGGCTGGACCCC 0.522000 5 47 4.096e-09 6.97749e-09 0.021553 1 0 C2orf83 56918 broad.mit.edu 37 2 228476173 228476173 + Silent SNP T T G TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr2:228476173T>G ENST00000264387.4 - 3 476 c.390A>C c.(388-390)acA>acC p.T130T C2orf83_ENST00000409066.1_3'UTR NM_020161.3 NP_064546.3 Q53S99 CB083_HUMAN chromosome 2 open reading frame 83 130 membrane folic acid binding|reduced folate carrier activity endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(2) 11 TCTTGTTCTCTGTGGACTTTT 0.517000 8 73 0 0 0.058154 0 0 MIR124-2HG 100130155 broad.mit.edu 37 8 65291870 65291870 + RNA SNP G G T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr8:65291870G>T ENST00000521441.1 + 0 655 AGGGAATTTAGGGGGTAGTAA 0.542000 3 13 6.4e-05 9.28521e-05 0.115264 1 0 SMOC1 64093 broad.mit.edu 37 14 70490074 70490074 + Missense_Mutation SNP G G C TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr14:70490074G>C ENST00000381280.4 + 11 1454 c.1201G>C c.(1201-1203)Gcc>Ccc p.A401P SMOC1_ENST00000361956.3_Missense_Mutation_p.A401P NM_001034852.2|NM_022137.5 NP_001030024.1|NP_071420.1 Q9H4F8 SMOC1_HUMAN SPARC related modular calcium binding 1 401 EF-hand 2. cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction basement membrane calcium ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 21 all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028) CAAGAAATGTGCCCGGCGTTT 0.517000 20 251 0 0 0.049695 0 0 ANK3 288 broad.mit.edu 37 10 61822989 61822989 + Missense_Mutation SNP T T C TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr10:61822989T>C ENST00000280772.1 - 40 12666 c.12475A>G c.(12475-12477)Aca>Gca p.T4159A ANK3_ENST00000373827.2_Missense_Mutation_p.T1540A|ANK3_ENST00000355288.2_Missense_Mutation_p.T680A|ANK3_ENST00000503366.1_Missense_Mutation_p.T1547A NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 4159 Death. establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 TTAATTTTTGTCAAGACCGAA 0.343000 7 34 0 0 0.038147 0 0 TMEM182 130827 broad.mit.edu 37 2 103414410 103414410 + Silent SNP C C T rs140175654 byFrequency TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr2:103414410C>T ENST00000412401.2 + 4 625 c.420C>T c.(418-420)ttC>ttT p.F140F TMEM182_ENST00000486293.1_3'UTR|TMEM182_ENST00000409173.1_Silent_p.F97F|TMEM182_ENST00000409528.1_Silent_p.F44F NM_144632.3 NP_653233.3 Q6ZP80 TM182_HUMAN transmembrane protein 182 140 integral to membrane breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5) 11 CAGCCCCCTTCGCCAGCCATT 0.517000 4 53 0 0 0.014758 0 0 SLC15A1 6564 broad.mit.edu 37 13 99336994 99336994 + Nonsense_Mutation SNP G G C TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr13:99336994G>C ENST00000376503.5 - 23 2166 c.2111C>G c.(2110-2112)tCa>tGa p.S704* NM_005073.3 NP_005064.1 P46059 S15A1_HUMAN solute carrier family 15 (oligopeptide transporter), member 1 704 digestion|protein transport integral to plasma membrane|membrane fraction peptide:hydrogen symporter activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000) CTGTTTCTGTGAATTGGCCCC 0.502000 6 28 0 0 0.029380 0 0 SLC39A12 221074 broad.mit.edu 37 10 18242341 18242341 + Missense_Mutation SNP C C A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr10:18242341C>A ENST00000377369.2 + 2 409 c.136C>A c.(136-138)Ctg>Atg p.L46M SLC39A12_ENST00000377374.4_Missense_Mutation_p.L46M|SLC39A12_ENST00000377371.3_Missense_Mutation_p.L46M|SLC39A12_ENST00000539911.1_Intron NM_001145195.1 NP_001138667.1 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), member 12 46 zinc ion transport integral to membrane metal ion transmembrane transporter activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 ACCGGCAGACCTGCTACAGGT 0.527000 4 57 0.00909568 0.0106177 0.009096 1 0 HOMER1 9456 broad.mit.edu 37 5 78752776 78752776 + Missense_Mutation SNP C C A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr5:78752776C>A ENST00000334082.6 - 2 1513 c.71G>T c.(70-72)tGg>tTg p.W24L HOMER1_ENST00000282260.6_Missense_Mutation_p.W24L|HOMER1_ENST00000508576.1_Missense_Mutation_p.W24L|HOMER1_ENST00000535690.1_Intron NM_004272.3 NP_004263.1 Q86YM7 HOME1_HUMAN homer homolog 1 (Drosophila) 24 WH1. activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1) 14 Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191) OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36) GGTGGGTACCCAGTTCTTCTT 0.428000 12 125 6.40141e-05 9.28521e-05 0.080935 1 0 LRRC66 339977 broad.mit.edu 37 4 52861613 52861613 + Missense_Mutation SNP C C G TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr4:52861613C>G ENST00000343457.3 - 4 1581 c.1575G>C c.(1573-1575)caG>caC p.Q525H NM_001024611.1 NP_001019782.1 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 525 integral to membrane central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 58 GGATGTGGTCCTGCGCTGCTG 0.512000 12 128 0 0 0.093190 0 0 MED28 80306 broad.mit.edu 37 4 17616422 17616422 + Missense_Mutation SNP G G A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr4:17616422G>A ENST00000237380.6 + 1 169 c.145G>A c.(145-147)Gag>Aag p.E49K NM_025205.3 NP_079481.2 Q9H204 MED28_HUMAN mediator complex subunit 28 49 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|membrane|nucleus actin binding lung(6)|skin(2) 8 GGACGAGTTGGAGTCATCTTT 0.567000 10 86 0 0 0.069234 0 0 CNGB3 54714 broad.mit.edu 37 8 87679272 87679272 + Missense_Mutation SNP G G T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr8:87679272G>T ENST00000320005.5 - 6 780 c.733C>A c.(733-735)Caa>Aaa p.Q245K NM_019098.4 NP_061971.3 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 245 signal transduction|visual perception integral to membrane cGMP binding p.Q245E(1) NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 80 TCTGCGGTTTGATATGGGAAG 0.433000 9 73 1.33987e-11 2.42335e-11 0.069234 1 0 C3orf79 152118 broad.mit.edu 37 3 153202422 153202422 + Missense_Mutation SNP A A G TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr3:153202422A>G ENST00000446603.2 + 1 139 c.77A>G c.(76-78)cAt>cGt p.H26R RP11-23D24.2_ENST00000493214.2_RNA NM_001101337.1 NP_001094807.1 P0CE67 CC079_HUMAN chromosome 3 open reading frame 79 26 endometrium(1)|large_intestine(3) 4 TTCAGTTGCCATCTTCTGCCT 0.413000 13 290 0 0 0.119110 0 0 ERBB4 2066 broad.mit.edu 37 2 212589829 212589829 + Missense_Mutation SNP C C A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr2:212589829C>A ENST00000342788.4 - 6 1023 c.713G>T c.(712-714)tGc>tTc p.C238F ERBB4_ENST00000436443.1_Missense_Mutation_p.C238F|ERBB4_ENST00000402597.1_Missense_Mutation_p.C238F NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 238 Cys-rich. cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) AGGTCCTGAGCAGCCTCCAGC 0.478000 TSP Lung(8;0.080) 8 71 0.00307968 0.0038235 0.038147 1 0 PTPRD 5789 broad.mit.edu 37 9 8518184 8518184 + Missense_Mutation SNP G G T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr9:8518184G>T ENST00000381196.4 - 18 1750 c.1207C>A c.(1207-1209)Cct>Act p.P403T PTPRD_ENST00000358503.5_Missense_Mutation_p.P390T|PTPRD_ENST00000356435.5_Missense_Mutation_p.P403T|PTPRD_ENST00000397617.3_Missense_Mutation_p.P393T|PTPRD_ENST00000540109.1_Missense_Mutation_p.P403T|PTPRD_ENST00000355233.5_Missense_Mutation_p.P403T|PTPRD_ENST00000397606.3_Missense_Mutation_p.P393T|PTPRD_ENST00000360074.4_Missense_Mutation_p.P390T|PTPRD_ENST00000397611.3_Missense_Mutation_p.P400T|PTPRD_ENST00000486161.1_Missense_Mutation_p.P403T|PTPRD_ENST00000537002.1_Missense_Mutation_p.P400T NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 403 Fibronectin type-III 1. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) TCGCTGGGAGGCCCCCGCCCA 0.537000 TSP Lung(15;0.13) 11 77 0.010729 0.0124746 0.080935 1 0 LTV1 84946 broad.mit.edu 37 6 144167209 144167209 + Missense_Mutation SNP G G A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr6:144167209G>A ENST00000367576.5 + 3 291 c.157G>A c.(157-159)Gca>Aca p.A53T NM_032860.3 NP_116249.2 Q96GA3 LTV1_HUMAN LTV1 homolog (S. cerevisiae) 53 breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1) 13 OV - Ovarian serous cystadenocarcinoma(155;2.72e-06)|GBM - Glioblastoma multiforme(68;0.0372) AGAAAGGCGAGCAGAACAGAG 0.413000 4 63 0 0 0.009096 0 0 RAB33A 9363 broad.mit.edu 37 X 129306262 129306262 + Missense_Mutation SNP A A C TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chrX:129306262A>C ENST00000257017.4 + 1 640 c.226A>C c.(226-228)Aag>Cag p.K76Q NM_004794.2 NP_004785.1 Q14088 RB33A_HUMAN RAB33A, member RAS oncogene family 76 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity|protein binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(5) 11 CTTCAGGGAGAAGACCGTGGA 0.622000 6 67 0 0 0.021553 0 0 SLC9C2 284525 broad.mit.edu 37 1 173502880 173502880 + Silent SNP A A G TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr1:173502880A>G ENST00000367714.3 - 17 2453 c.2031T>C c.(2029-2031)ttT>ttC p.F677F SLC9C2_ENST00000536496.1_3'UTR|SLC9C2_ENST00000466087.1_5'UTR NM_178527.3 NP_848622.2 Q5TAH2 S9A11_HUMAN solute carrier family 9, member C2 (putative) 677 Ion transport-like (By similarity). sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity TAACCAGGATAAAAAATTCCA 0.289000 9 65 0 0 0.058154 0 0 HRNR 388697 broad.mit.edu 37 1 152193257 152193257 + Missense_Mutation SNP T T C TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr1:152193257T>C ENST00000368801.2 - 3 923 c.848A>G c.(847-849)tAt>tGt p.Y283C FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 283 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) ATGCTGACCATAGCTGGAAGA 0.592000 6 92 0 0 0.038147 0 0 FOXJ1 2302 broad.mit.edu 37 17 74134191 74134191 + Missense_Mutation SNP C C A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr17:74134191C>A ENST00000322957.6 - 3 863 c.509G>T c.(508-510)cGc>cTc p.R170L NM_001454.3 NP_001445.2 Q92949 FOXJ1_HUMAN forkhead box J1 170 actin cytoskeleton organization|activation of Rho GTPase activity|central tolerance induction|cilium assembly|epithelial cell differentiation|establishment of apical/basal cell polarity|heart looping|humoral immune response|left/right pattern formation|leukocyte migration|lung development|negative regulation of B cell activation|negative regulation of germinal center formation|negative regulation of humoral immune response mediated by circulating immunoglobulin|negative regulation of interleukin-6 biosynthetic process|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell differentiation in thymus|negative regulation of T cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of central B cell tolerance induction|spermatogenesis transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding large_intestine(1)|liver(1)|pancreas(1)|skin(1) 4 LUSC - Lung squamous cell carcinoma(166;0.187) CAGGTTGTGGCGGATTGAATT 0.602000 3 17 0.014758 0.017024 0.014758 1 0 OSBPL6 114880 broad.mit.edu 37 2 179250197 179250197 + Missense_Mutation SNP C C A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr2:179250197C>A ENST00000190611.4 + 19 2402 c.2026C>A c.(2026-2028)Cca>Aca p.P676T OSBPL6_ENST00000315022.2_Missense_Mutation_p.P680T|OSBPL6_ENST00000359685.3_Missense_Mutation_p.P640T|OSBPL6_ENST00000409631.1_Missense_Mutation_p.P640T|OSBPL6_ENST00000392505.2_Missense_Mutation_p.P701T|OSBPL6_ENST00000409045.3_Missense_Mutation_p.P645T NM_032523.3 NP_115912.1 Q9BZF3 OSBL6_HUMAN oxysterol binding protein-like 6 676 lipid transport lipid binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335) TAGCCATCATCCACCCATTTC 0.323000 8 65 1.76689e-08 2.90843e-08 0.058154 1 0 KCNH4 23415 broad.mit.edu 37 17 40317475 40317475 + Missense_Mutation SNP C C T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr17:40317475C>T ENST00000264661.3 - 11 2409 c.2077G>A c.(2077-2079)Gac>Aac p.D693N KCNH4_ENST00000607371.1_Missense_Mutation_p.D693N NM_012285.2 NP_036417.1 Q9UQ05 KCNH4_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 4 693 regulation of transcription, DNA-dependent voltage-gated potassium channel complex two-component sensor activity|voltage-gated potassium channel activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1) 32 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) ACACTGGTGTCAGAGCCCTGG 0.632000 5 157 0 0 0.014758 0 0 PPARGC1A 10891 broad.mit.edu 37 4 23803432 23803432 + Silent SNP C C T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr4:23803432C>T ENST00000264867.2 - 12 2333 c.2214G>A c.(2212-2214)ttG>ttA p.L738L PPARGC1A_ENST00000509702.1_5'UTR NM_013261.3 NP_037393.1 Q9UBK2 PRGC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 alpha 738 RRM. androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5) 51 Breast(46;0.0503) TTGACCTGCGCAAAGTGTATC 0.408000 7 63 0 0 0.047766 0 0 CLTC 1213 broad.mit.edu 37 17 57759112 57759112 + Missense_Mutation SNP A A T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr17:57759112A>T ENST00000269122.3 + 21 3628 c.3354A>T c.(3352-3354)aaA>aaT p.K1118N CLTC_ENST00000393043.1_Missense_Mutation_p.K1118N|CLTC_ENST00000579456.1_Intron NM_004859.3 NP_004850.1 Q00610 CLH1_HUMAN clathrin, heavy chain (Hc) 1118 Heavy chain arm.|Proximal segment. axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle protein binding|structural molecule activity CLTC/ALK(44)|CLTC/TFE3(2) breast(2)|large_intestine(6)|ovary(1) 9 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) AGTTGCAGAAAGGAATGGTGA 0.428000 T """ALK, TFE3""" """ALCL, renal """ 6 37 0 0 0.021553 0 0 CLCA1 1179 broad.mit.edu 37 1 86957029 86957029 + Missense_Mutation SNP G G T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr1:86957029G>T ENST00000234701.3 + 10 1790 c.1439G>T c.(1438-1440)gGa>gTa p.G480V CLCA1_ENST00000394711.1_Missense_Mutation_p.G480V A8K7I4 CLCA1_HUMAN chloride channel accessory 1 480 calcium ion transport extracellular space|integral to plasma membrane chloride channel activity NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 Lung NSC(277;0.239) all cancers(265;0.0249)|Epithelial(280;0.0476) TCAGGAAATGGAGCTGTCTCT 0.388000 7 71 0.0293803 0.0327317 0.029380 1 0 GPR98 84059 broad.mit.edu 37 5 90040916 90040916 + Missense_Mutation SNP G G A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr5:90040916G>A ENST00000405460.2 + 51 10699 c.10603G>A c.(10603-10605)Gag>Aag p.E3535K NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 3535 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) CTGGAATTCGGAGCGTAATCA 0.383000 6 273 0 0 0.038147 0 0 GLRB 2743 broad.mit.edu 37 4 158041792 158041792 + Silent SNP C C T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr4:158041792C>T ENST00000264428.4 + 3 477 c.207C>T c.(205-207)ccC>ccT p.P69P GLRB_ENST00000512619.1_Intron|GLRB_ENST00000509282.1_Silent_p.P69P|GLRB_ENST00000541722.1_Silent_p.P69P NM_000824.4 NP_000815.1 P48167 GLRB_HUMAN glycine receptor, beta 69 nervous system development|neuropeptide signaling pathway|startle response cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|protein binding|receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1) 27 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707) Glycine(DB00145) GTTATGATCCCAGGATAAGAC 0.353000 8 82 0 0 0.058154 0 0 FCRL2 79368 broad.mit.edu 37 1 157738454 157738454 + Silent SNP G G C TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr1:157738454G>C ENST00000361516.3 - 5 681 c.633C>G c.(631-633)gcC>gcG p.A211A FCRL2_ENST00000392274.3_Silent_p.A211A|FCRL2_ENST00000368181.4_Intron NM_030764.3 NP_110391.2 Q96LA5 FCRL2_HUMAN Fc receptor-like 2 211 Ig-like C2-type 3. cell-cell signaling integral to membrane|plasma membrane|soluble fraction receptor activity|SH3/SH2 adaptor activity central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2) 51 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) GTCCCCCGGGGGCCCGGATCT 0.517000 12 179 0 0 0.119110 0 0 GUF1 60558 broad.mit.edu 37 4 44688028 44688028 + Missense_Mutation SNP A A G TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr4:44688028A>G ENST00000281543.5 + 7 916 c.722A>G c.(721-723)gAa>gGa p.E241G GUF1_ENST00000506793.1_3'UTR NM_021927.2 NP_068746.2 Q8N442 GUF1_HUMAN GUF1 GTPase homolog (S. cerevisiae) 241 translation mitochondrial inner membrane GTP binding|GTPase activity breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 19 GCAATTATTGAAAGAATCCCC 0.313000 8 89 0 0 0.069234 0 0 MIR890 100126303 broad.mit.edu 37 X 145075792 145075792 + RNA SNP G G T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chrX:145075792G>T ENST00000401256.1 - 0 77 NR_030589.1 CTTGTACTTGGTAAGACTTAC 0.478000 12 241 1.3612e-06 2.16757e-06 0.132662 1 0 FLG 2312 broad.mit.edu 37 1 152281970 152281970 + Silent SNP G G T rs149105551 byFrequency TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr1:152281970G>T ENST00000368799.1 - 3 5427 c.5392C>A c.(5392-5394)Cga>Aga p.R1798R FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1798 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GAGCTGTCTCGTGCCTGCTCG 0.597000 Ichthyosis 26 183 7.38237e-10 1.29523e-09 0.116897 1 0 F8 2157 broad.mit.edu 37 X 154157832 154157832 + Missense_Mutation SNP C C A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chrX:154157832C>A ENST00000360256.4 - 14 4433 c.4233G>T c.(4231-4233)aaG>aaT p.K1411N NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 1411 B. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) ATGATGATACCTTTGCAATGG 0.413000 11 152 3.07112e-06 4.73599e-06 0.080935 1 0 ARHGEF12 23365 broad.mit.edu 37 11 120349087 120349087 + Missense_Mutation SNP C C A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr11:120349087C>A ENST00000397843.2 + 37 3921 c.3755C>A c.(3754-3756)gCa>gAa p.A1252E ARHGEF12_ENST00000356641.3_Missense_Mutation_p.A1233E|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.A1149E NM_015313.2 NP_056128.1 Q9NZN5 ARHGC_HUMAN Rho guanine nucleotide exchange factor (GEF) 12 1252 apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2) 61 Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231) GCATTGGATGCACTAAGAAAT 0.388000 T MLL AML 3 51 0.115264 0.125548 0.115264 1 0 TRIM15 89870 broad.mit.edu 37 6 30131594 30131594 + Nonsense_Mutation SNP C C T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr6:30131594C>T ENST00000376694.4 + 1 602 c.133C>T c.(133-135)Cag>Tag p.Q45* TRIM15_ENST00000376688.1_Nonsense_Mutation_p.Q45* NM_033229.2 NP_150232.2 Q9C019 TRI15_HUMAN tripartite motif containing 15 45 mesodermal cell fate determination intracellular zinc ion binding large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1) 14 CGCGCTCTCCCAGATGGGGGC 0.682000 3 34 0 0 0.014758 0 0 TAS2R42 353164 broad.mit.edu 37 12 11338720 11338720 + Missense_Mutation SNP G G T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr12:11338720G>T ENST00000334266.1 - 1 823 c.824C>A c.(823-825)gCc>gAc p.A275D NM_181429.1 NP_852094.1 Q7RTR8 T2R42_HUMAN taste receptor, type 2, member 42 275 sensory perception of taste integral to membrane G-protein coupled receptor activity breast(1)|kidney(2)|lung(4)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(49;0.0455) CGAGGGAAAGGCATTTAAGGC 0.393000 6 75 0.0215528 0.0244766 0.021553 1 0 ELTD1 64123 broad.mit.edu 37 1 79403637 79403637 + Missense_Mutation SNP A A T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr1:79403637A>T ENST00000370742.3 - 6 678 c.615T>A c.(613-615)gaT>gaA p.D205E NM_022159.3 NP_071442.2 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain containing 1 205 neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 69 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) CTACAAATGTATCCCTTTGAA 0.328000 6 77 0 0 0.029380 0 0 FCAR 2204 broad.mit.edu 37 19 55396733 55396733 + Missense_Mutation SNP C C A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr19:55396733C>A ENST00000355524.3 + 3 167 c.157C>A c.(157-159)Cgt>Agt p.R53S FCAR_ENST00000391724.3_Missense_Mutation_p.R41S|FCAR_ENST00000469767.1_Missense_Mutation_p.R53S|FCAR_ENST00000391726.3_Missense_Mutation_p.R41S|FCAR_ENST00000345937.4_Missense_Mutation_p.R53S|FCAR_ENST00000391723.3_Missense_Mutation_p.R41S|FCAR_ENST00000391725.3_Missense_Mutation_p.R53S|FCAR_ENST00000359272.4_Missense_Mutation_p.R41S|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000353758.4_Intron NM_002000.2 NP_001991.1 P24071 FCAR_HUMAN Fc fragment of IgA, receptor for 53 Ig-like C2-type 1. immune response extracellular region|integral to plasma membrane IgA binding|receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2) 24 GBM - Glioblastoma multiforme(193;0.0443) CCAGGCCATTCGTGAAGCTTA 0.463000 7 36 1.12685e-05 1.70189e-05 0.047766 1 0 IGKV2D-29 28882 broad.mit.edu 37 2 89986364 89986364 + RNA SNP G G A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr2:89986364G>A ENST00000491977.1 + 0 43 GAGGCTCCCTGCTCAGCTCCT 0.567000 6 63 0 0 0.047766 0 0 LPP 4026 broad.mit.edu 37 3 188327400 188327400 + Missense_Mutation SNP G G A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr3:188327400G>A ENST00000312675.4 + 6 1127 c.881G>A c.(880-882)gGa>gAa p.G294E LPP_ENST00000543006.1_Missense_Mutation_p.G294E|LPP_ENST00000448637.1_Missense_Mutation_p.G294E|LPP_ENST00000471917.1_3'UTR NM_001167672.1|NM_005578.3 NP_001161144.1|NP_005569.1 Q93052 LPP_HUMAN LIM domain containing preferred translocation partner in lipoma 294 Pro-rich. cell adhesion cytoplasm|focal adhesion|nucleus protein binding|zinc ion binding HMGA2/LPP(161) NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2) 10 all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088) all_lung(153;0.00139)|Lung NSC(153;0.00202) GBM - Glioblastoma multiforme(93;0.00602) CCCAACCAGGGACGCTATTAT 0.547000 T """HMGA2, MLL, C12orf9""" """lipoma, leukemia""" 12 69 0 0 0.080935 0 0 ASXL2 55252 broad.mit.edu 37 2 26022258 26022258 + Missense_Mutation SNP C C G TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr2:26022258C>G ENST00000435504.4 - 5 692 c.399G>C c.(397-399)agG>agC p.R133S ASXL2_ENST00000497092.1_5'UTR|ASXL2_ENST00000272341.4_5'UTR|ASXL2_ENST00000336112.4_Missense_Mutation_p.R105S Q76L83 ASXL2_HUMAN additional sex combs like 2 (Drosophila) 133 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3) 33 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ATTTACCTTTCCTTTTCCACC 0.463000 6 170 0 0 0.029380 0 0 CCNB3 85417 broad.mit.edu 37 X 50053799 50053799 + Missense_Mutation SNP A A C TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chrX:50053799A>C ENST00000376042.1 + 6 2928 c.2630A>C c.(2629-2631)cAc>cCc p.H877P CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.H877P Q8WWL7 CCNB3_HUMAN cyclin B3 877 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Ovarian(276;0.236) TTTAAGCGACACTCAGCTTTG 0.517000 4 41 0 0 0.014758 0 0 SESN2 83667 broad.mit.edu 37 1 28599220 28599220 + Silent SNP A A T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr1:28599220A>T ENST00000253063.3 + 5 987 c.666A>T c.(664-666)gcA>gcT p.A222A NM_031459.4 NP_113647.1 P58004 SESN2_HUMAN sestrin 2 222 cell cycle arrest cytoplasm|nucleus cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261) OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649) AGGGGGATGCAGATGGCAGCC 0.642000 3 36 0 0 0.115264 0 0 LRP2 4036 broad.mit.edu 37 2 170063225 170063225 + Silent SNP G G T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr2:170063225G>T ENST00000263816.3 - 39 7290 c.7005C>A c.(7003-7005)ccC>ccA p.P2335P NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 2335 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) CTGGTGACCGGGGCTGGACTT 0.502000 5 54 2.0095e-06 3.13182e-06 0.029380 1 0 CRYGS 1427 broad.mit.edu 37 3 186256671 186256671 + Silent SNP G G A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr3:186256671G>A ENST00000392499.2 - 4 690 c.351C>T c.(349-351)tcC>tcT p.S117S CRYGS_ENST00000307944.5_Silent_p.S117S NM_017541.2 NP_060011.1 P22914 CRBS_HUMAN crystallin, gamma S 117 Beta/gamma crystallin 'Greek key' 3. structural constituent of eye lens endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2) 11 all_cancers(143;3.75e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.5e-22) GBM - Glioblastoma multiforme(93;0.0906) GCTCCATGATGGAAGGGCAAT 0.478000 10 72 0 0 0.069234 0 0 CRB1 23418 broad.mit.edu 37 1 197404113 197404113 + Silent SNP C C A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr1:197404113C>A ENST00000367397.1 + 5 2121 c.1263C>A c.(1261-1263)tcC>tcA p.S421S CRB1_ENST00000367400.3_Silent_p.S1040S|CRB1_ENST00000367399.2_Silent_p.S928S|CRB1_ENST00000535699.1_Silent_p.S1016S|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000544212.1_Silent_p.S521S P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 1040 EGF-like 10; calcium-binding (Potential). cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 TGACCCTTTCCATGACAGACC 0.453000 7 112 0.000157383 0.000218546 0.038147 1 0 KIF26B 55083 broad.mit.edu 37 1 245848849 245848849 + Missense_Mutation SNP C C A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr1:245848849C>A ENST00000366518.4 + 9 1525 c.1421C>A c.(1420-1422)tCc>tAc p.S474Y KIF26B_ENST00000407071.2_Missense_Mutation_p.S855Y Q2KJY2 KI26B_HUMAN kinesin family member 26B 855 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) CCCGACTACTCCTCCAGCAGC 0.672000 4 12 0.00024832 0.000335289 0.009096 1 0 AHNAK2 113146 broad.mit.edu 37 14 105412292 105412292 + Missense_Mutation SNP C C A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr14:105412292C>A ENST00000333244.5 - 7 9615 c.9496G>T c.(9496-9498)Gtg>Ttg p.V3166L AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 3166 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GACACATCCACCAAGACCTCA 0.577000 5 88 8.12818e-05 0.000116174 0.029380 1 0 TLR4 7099 broad.mit.edu 37 9 120466837 120466837 + Nonsense_Mutation SNP C C A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr9:120466837C>A ENST00000355622.6 + 1 188 c.87C>A c.(85-87)tgC>tgA p.C29* TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_De_novo_Start_InFrame NM_138554.4|NM_138557.2 NP_612564.1|NP_612567.1 O00206 TLR4_HUMAN toll-like receptor 4 29 activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 103 GGGAGCCCTGCGTGGAGGTAT 0.542000 4 72 0.00024832 0.000335289 0.009096 1 0 ACSM2A 123876 broad.mit.edu 37 16 20482505 20482505 + Nonsense_Mutation SNP C C A rs142316126 TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr16:20482505C>A ENST00000573854.1 + 5 821 c.707C>A c.(706-708)tCg>tAg p.S236* ACSM2A_ENST00000575690.1_Nonsense_Mutation_p.S236*|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000417235.2_Nonsense_Mutation_p.S157*|ACSM2A_ENST00000536134.1_Intron|ACSM2A_ENST00000219054.6_Nonsense_Mutation_p.S236*|ACSM2A_ENST00000396104.2_Nonsense_Mutation_p.S236* NM_001010845.2 NP_001010845.1 Q08AH3 ACS2A_HUMAN acyl-CoA synthetase medium-chain family member 2A 236 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1) 51 CATTCCTACTCGAGCCTGGGC 0.502000 14 116 6.94344e-10 1.22556e-09 0.038395 1 0 LYST 1130 broad.mit.edu 37 1 235973558 235973558 + Missense_Mutation SNP A A G TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr1:235973558A>G ENST00000389794.3 - 5 734 c.560T>C c.(559-561)cTg>cCg p.L187P LYST_ENST00000389793.2_Missense_Mutation_p.L187P|LYST_ENST00000536965.1_Missense_Mutation_p.L187P Q99698 LYST_HUMAN lysosomal trafficking regulator 187 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) ATGATGCAGCAGATGGGGCCT 0.433000 11 135 0 0 0.093190 0 0 ANK2 287 broad.mit.edu 37 4 114294269 114294269 + Silent SNP C C A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr4:114294269C>A ENST00000357077.4 + 44 11687 c.11634C>A c.(11632-11634)ccC>ccA p.P3878P ANK2_ENST00000264366.6_Silent_p.P3845P|ANK2_ENST00000394537.3_Silent_p.P1793P|ANK2_ENST00000510275.2_Silent_p.P476P|ANK2_ENST00000509550.1_Silent_p.P969P|ANK2_ENST00000506722.1_Silent_p.P1784P NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 3845 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) CTGAAATACCCCCAGAAACAG 0.418000 13 183 3.41278e-10 6.09723e-10 0.033300 1 0 C16orf70 80262 broad.mit.edu 37 16 67168097 67168097 + Silent SNP T T C TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr16:67168097T>C ENST00000219139.3 + 7 665 c.477T>C c.(475-477)tcT>tcC p.S159S C16orf70_ENST00000569600.1_Silent_p.S159S|C16orf70_ENST00000569683.1_3'UTR NM_025187.3 NP_079463.2 Q9BSU1 CP070_HUMAN chromosome 16 open reading frame 70 159 cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1) 17 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579) GCCTGGCTTCTCTCCAGATAC 0.483000 4 56 0 0 0.021553 0 0 FLG 2312 broad.mit.edu 37 1 152281902 152281902 + Missense_Mutation SNP G G T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr1:152281902G>T ENST00000368799.1 - 3 5495 c.5460C>A c.(5458-5460)agC>agA p.S1820R FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1820 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TTCCTCCTCTGCTTGACCCTG 0.577000 Ichthyosis 11 279 0.0135373 0.0156776 0.093190 1 0 IGHV1OR16-3 28313 broad.mit.edu 37 16 32070602 32070602 + RNA SNP G G C TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr16:32070602G>C ENST00000566806.1 - 0 499 CCTCAGTGAAGGTCTCCTGCA 0.572000 7 103 0 0 0.069234 0 0 EP400 57634 broad.mit.edu 37 12 132522304 132522304 + Missense_Mutation SNP A A T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr12:132522304A>T ENST00000333577.4 + 32 6246 c.6137A>T c.(6136-6138)cAg>cTg p.Q2046L EP400_ENST00000389561.2_Missense_Mutation_p.Q2010L|EP400_ENST00000332482.4_Missense_Mutation_p.Q1973L|EP400_ENST00000389562.2_Missense_Mutation_p.Q2009L|EP400_ENST00000330386.6_Missense_Mutation_p.Q1929L Q96L91 EP400_HUMAN E1A binding protein p400 2046 Helicase C-terminal. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) GTGGCTGCTCAGGGAAATGAC 0.463000 5 53 0 0 0.029380 0 0 TECRL 253017 broad.mit.edu 37 4 65275158 65275158 + Translation_Start_Site SNP C C A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr4:65275158C>A ENST00000381210.3 - 0 22 TECRL_ENST00000507440.1_De_novo_Start_InFrame NM_001010874.4 NP_001010874.2 Q5HYJ1 TECRL_HUMAN trans-2,3-enoyl-CoA reductase-like lipid metabolic process cytoplasm|integral to membrane oxidoreductase activity, acting on the CH-CH group of donors endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1) 47 GCTGGAGAACCTTTGAAAGGT 0.368000 3 29 0.004672 0.0056566 0.115264 1 0 KIAA0922 23240 broad.mit.edu 37 4 154524536 154524536 + Missense_Mutation SNP G G T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr4:154524536G>T ENST00000409663.3 + 24 2770 c.2718G>T c.(2716-2718)agG>agT p.R906S KIAA0922_ENST00000409959.3_Missense_Mutation_p.R907S|KIAA0922_ENST00000440693.1_Missense_Mutation_p.R823S NM_015196.3 NP_056011.3 A2VDJ0 T131L_HUMAN KIAA0922 906 integral to membrane breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 all_hematologic(180;0.093) Renal(120;0.118) CAAGACAGAGGCAAAATGCTA 0.423000 7 93 0.000157383 0.000218546 0.038147 1 0 FAM13A 10144 broad.mit.edu 37 4 89912230 89912230 + Missense_Mutation SNP G G A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr4:89912230G>A ENST00000264344.5 - 4 706 c.499C>T c.(499-501)Ctc>Ttc p.L167F FAM13A_ENST00000515600.1_Missense_Mutation_p.L167F|FAM13A_ENST00000509094.1_Missense_Mutation_p.L167F|FAM13A_ENST00000502459.1_5'UTR|FAM13A_ENST00000511976.1_Intron NM_014883.3 NP_055698.2 O94988 FA13A_HUMAN family with sequence similarity 13, member A 167 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 55 TACTTGAGGAGGCAGTAGTGG 0.408000 3 41 0 0 0.115264 0 0 STARD13 90627 broad.mit.edu 37 13 33687050 33687050 + Missense_Mutation SNP C C G TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr13:33687050C>G ENST00000336934.5 - 9 2416 c.2300G>C c.(2299-2301)cGg>cCg p.R767P STARD13_ENST00000255486.4_Missense_Mutation_p.R759P|STARD13_ENST00000399365.3_Missense_Mutation_p.R649P NM_001243476.1|NM_178006.3 NP_001230405.1|NP_821074.1 Q9Y3M8 STA13_HUMAN StAR-related lipid transfer (START) domain containing 13 767 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|lipid particle|mitochondrial membrane GTPase activator activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1) 40 all_epithelial(80;0.155) Lung SC(185;0.0367) all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143) GGCCTGCAGCCGCTGCTCTTT 0.557000 4 8 0 0 0.047766 0 0 OR2M3 127062 broad.mit.edu 37 1 248367065 248367065 + Missense_Mutation SNP G G T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr1:248367065G>T ENST00000456743.1 + 1 734 c.696G>T c.(694-696)gaG>gaT p.E232D NM_001004689.1 NP_001004689.1 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, member 3 232 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 50 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) GATCTGGAGAGGGTCGTCGCA 0.448000 13 339 3.27435e-08 5.32992e-08 0.119110 1 0 NLRP14 338323 broad.mit.edu 37 11 7067906 7067906 + Missense_Mutation SNP G G C TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr11:7067906G>C ENST00000299481.4 + 5 2312 c.1966G>C c.(1966-1968)Gat>Cat p.D656H NM_176822.3 NP_789792.1 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 656 cell differentiation|multicellular organismal development|spermatogenesis ATP binding breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 21 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) AAGGGATGGTGATCGCATTAC 0.378000 11 102 0 0 0.093190 0 0 ABCA8 10351 broad.mit.edu 37 17 66878079 66878079 + Missense_Mutation SNP C C A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr17:66878079C>A ENST00000269080.2 - 29 3888 c.3751G>T c.(3751-3753)Ggg>Tgg p.G1251W ABCA8_ENST00000586539.1_Missense_Mutation_p.G1291W|ABCA8_ENST00000430352.2_Missense_Mutation_p.G1291W NM_007168.2 NP_009099.1 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A (ABC1), member 8 1251 ABC transporter 2. integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4) 83 Breast(10;4.56e-13) TTCCTCTTCCCTGCATACTCC 0.423000 14 107 6.31663e-08 1.02253e-07 0.132662 1 0 IL1RL2 8808 broad.mit.edu 37 2 102828581 102828581 + Missense_Mutation SNP G G A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr2:102828581G>A ENST00000264257.2 + 6 797 c.671G>A c.(670-672)gGa>gAa p.G224E IL1RL2_ENST00000539491.1_Missense_Mutation_p.G224E|IL1RL2_ENST00000481806.1_3'UTR|IL1RL2_ENST00000441515.2_Missense_Mutation_p.G106E NM_003854.2 NP_003845.2 Q9HB29 ILRL2_HUMAN interleukin 1 receptor-like 2 224 Ig-like C2-type 3. cellular defense response|innate immune response integral to plasma membrane interleukin-1, Type I, activating receptor activity breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1) 26 GGATATGGAGGAAGTGTCCCT 0.363000 4 63 0 0 0.009096 0 0 FAM105A 54491 broad.mit.edu 37 5 14601519 14601519 + Missense_Mutation SNP G G C TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr5:14601519G>C ENST00000274217.3 + 4 436 c.316G>C c.(316-318)Gga>Cga p.G106R NM_019018.2 NP_061891.1 Q9NUU6 F105A_HUMAN family with sequence similarity 105, member A 106 large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 Lung NSC(4;0.00592) AGAATGGAAAGGAGAGACACC 0.408000 8 54 0 0 0.038147 0 0 SVEP1 79987 broad.mit.edu 37 9 113231346 113231346 + Missense_Mutation SNP G G C TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr9:113231346G>C ENST00000401783.2 - 17 3370 c.3034C>G c.(3034-3036)Cat>Gat p.H1012D SVEP1_ENST00000374469.1_Missense_Mutation_p.H989D|SVEP1_ENST00000302728.8_Missense_Mutation_p.H1012D|SVEP1_ENST00000467821.1_5'UTR NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 1012 cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 CAGGTGAAATGTTCCAGATTA 0.433000 7 100 0 0 0.058154 0 0 CARD8 22900 broad.mit.edu 37 19 48733807 48733807 + Missense_Mutation SNP C C T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr19:48733807C>T ENST00000391898.3 - 7 965 c.923G>A c.(922-924)gGg>gAg p.G308E CARD8_ENST00000519940.1_Missense_Mutation_p.G308E|CARD8_ENST00000359009.4_Missense_Mutation_p.G202E|CARD8_ENST00000357778.5_Missense_Mutation_p.G33E|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000521613.1_Missense_Mutation_p.G258E|CARD8_ENST00000520015.1_Missense_Mutation_p.G308E|CARD8_ENST00000520753.1_Missense_Mutation_p.G308E|CARD8_ENST00000520153.1_Missense_Mutation_p.G258E|CARD8_ENST00000447740.2_Missense_Mutation_p.G258E NM_001184900.1 NP_001171829.1 Q9Y2G2 CARD8_HUMAN caspase recruitment domain family, member 8 202 negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion cytoplasm|nucleus caspase activator activity|NACHT domain binding|protein homodimerization activity endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1) 15 all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184) OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336) GAGGCGAGTCCCACTGGCGAT 0.572000 5 74 0 0 0.038147 0 0 TTN 7273 broad.mit.edu 37 2 179442618 179442618 + Silent SNP A A T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr2:179442618A>T ENST00000589042.1 - 323 68759 c.68535T>A c.(68533-68535)ccT>ccA p.P22845P TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Silent_p.P13905P|TTN_ENST00000342175.6_Silent_p.P13972P|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Silent_p.P13780P|TTN_ENST00000342992.6_Silent_p.P20277P|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.P21204P|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 21204 Ig-like 117. 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) CAGGTTTTCCAGGAGGATCTA 0.348000 5 53 0 0 0.014758 0 0 AMER1 139285 broad.mit.edu 37 X 63411301 63411301 + Missense_Mutation SNP C C A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chrX:63411301C>A ENST00000330258.3 - 2 2138 c.1866G>T c.(1864-1866)gaG>gaT p.E622D AMER1_ENST00000403336.1_Missense_Mutation_p.E622D|AMER1_ENST00000374869.3_Missense_Mutation_p.E622D NM_152424.3 NP_689637.3 APC membrane recruitment protein 1 p.0?(67) GGGTTCTGGCCTCCCTGCCAT 0.617000 3 29 5.18039e-06 7.90549e-06 0.038147 1 0 MED12L 116931 broad.mit.edu 37 3 151082975 151082975 + Missense_Mutation SNP G G T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr3:151082975G>T ENST00000474524.1 + 20 3099 c.3061G>T c.(3061-3063)Ggc>Tgc p.G1021C MED12L_ENST00000273432.4_Missense_Mutation_p.G881C|P2RY12_ENST00000302632.3_Intron NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 1021 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TGTATGTATGGGCCATCAGGA 0.463000 5 156 0.000602214 0.000794815 0.014758 1 0 IGHV3-33 28434 broad.mit.edu 37 14 106815883 106815883 + RNA SNP G G A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr14:106815883G>A ENST00000390615.2 - 0 269 ACCCACTCCAGCCCCTTGCCT 0.542000 8 99 0 0 0.105934 0 0 IGKV3-11 28914 broad.mit.edu 37 2 89326735 89326735 + RNA SNP A A T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr2:89326735A>T ENST00000483158.1 - 0 324 GCTGATGGTGAGAGTGAAGTC 0.542000 6 105 0 0 0.038147 0 0 LILRA1 11024 broad.mit.edu 37 19 55107290 55107290 + Missense_Mutation SNP C C A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr19:55107290C>A ENST00000251372.3 + 6 1030 c.848C>A c.(847-849)aCc>aAc p.T283N LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRA1_ENST00000453777.1_Intron|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron NM_006863.1 NP_006854.1 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 283 Ig-like C2-type 3. cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 47 GBM - Glioblastoma multiforme(193;0.0348) GCCAACTTCACCCTGGGCCCT 0.632000 3 27 0.115264 0.125548 0.115264 1 0 LETMD1 25875 broad.mit.edu 37 12 51442961 51442961 + Missense_Mutation SNP C C A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr12:51442961C>A ENST00000418425.2 + 2 286 c.267C>A c.(265-267)ttC>ttA p.F89L LETMD1_ENST00000548516.1_3'UTR|LETMD1_ENST00000552739.1_Intron|LETMD1_ENST00000550929.1_Missense_Mutation_p.F33L|LETMD1_ENST00000262055.4_Missense_Mutation_p.F89L|LETMD1_ENST00000547008.1_Missense_Mutation_p.F89L|LETMD1_ENST00000380123.2_Missense_Mutation_p.F89L NM_001243689.1 NP_001230618.1 Q6P1Q0 LTMD1_HUMAN LETM1 domain containing 1 89 LETM1.|Required and sufficient for mitochondrial import. integral to membrane|mitochondrial outer membrane protein binding central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3) 16 ACACAATCTTCATGAAAGGTA 0.403000 3 41 0.115264 0.125548 0.115264 1 0 TSHZ3 57616 broad.mit.edu 37 19 31768661 31768661 + Missense_Mutation SNP C C T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr19:31768661C>T ENST00000240587.4 - 2 2365 c.2038G>A c.(2038-2040)Gat>Aat p.D680N NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 680 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) GGGCTCCCATCCTTGCACCCA 0.652000 4 46 0 0 0.014758 0 0 CMTR2 55783 broad.mit.edu 37 16 71318874 71318874 + Missense_Mutation SNP C C T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr16:71318874C>T ENST00000338099.5 - 3 1286 c.950G>A c.(949-951)tGc>tAc p.C317Y FTSJD1_ENST00000434935.2_Missense_Mutation_p.C317Y Q8IYT2 FTSJ1_HUMAN 317 C -> S (in Ref. 5; AAM49718). integral to membrane methyltransferase activity|nucleic acid binding breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 ATAGTGGAGGCAAACCACATA 0.428000 9 76 0 0 0.047766 0 0 LCT 3938 broad.mit.edu 37 2 136561575 136561575 + Missense_Mutation SNP C C T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr2:136561575C>T ENST00000264162.2 - 11 4598 c.4588G>A c.(4588-4590)Gtg>Atg p.V1530M NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 1530 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) CAAAACTTCACCTTGTCTCCC 0.537000 3 40 0 0 0.014758 0 0 EPHB1 2047 broad.mit.edu 37 3 134967157 134967157 + Splice_Site SNP G G T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr3:134967157G>T ENST00000398015.3 + 14 2866 c.e14-1 EPHB1_ENST00000493838.1_Splice_Site NM_004441.4 NP_004432.1 P54762 EPHB1_HUMAN EPH receptor B1 integral to plasma membrane ATP binding|ephrin receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 130 TGTCACTGCAGGTCATCAATG 0.557000 3 33 6.4e-05 9.28521e-05 0.115264 1 0 THEMIS 387357 broad.mit.edu 37 6 128151040 128151040 + Missense_Mutation SNP G G A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr6:128151040G>A ENST00000368250.1 - 4 551 c.53C>T c.(52-54)aCt>aTt p.T18I THEMIS_ENST00000543064.1_Missense_Mutation_p.T97I|THEMIS_ENST00000537166.1_Missense_Mutation_p.T62I|THEMIS_ENST00000368248.2_Missense_Mutation_p.T97I Q8N1K5 THMS1_HUMAN thymocyte selection associated 97 CABIT 1. negative T cell selection|positive T cell selection|T cell receptor signaling pathway cytoplasm|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3) 60 TTCTTCCATAGTAAGGTATGG 0.348000 3 42 0 0 0.009096 0 0 DAB1 1600 broad.mit.edu 37 1 57476947 57476947 + Splice_Site SNP T T A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr1:57476947T>A ENST00000371236.2 - 13 1708 c.e13-2 DAB1_ENST00000371231.1_Splice_Site|DAB1_ENST00000439789.2_Splice_Site|DAB1_ENST00000420954.2_Splice_Site|DAB1_ENST00000485760.1_Splice_Site|DAB1_ENST00000371234.4_Splice_Site|DAB1_ENST00000414851.2_Splice_Site O75553 DAB1_HUMAN Dab, reelin signal transducer, homolog 1 (Drosophila) cell differentiation|nervous system development central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5) 64 GGGTTGGAGCTACACAGAGAC 0.453000 11 81 0 0 0.080935 0 0 ZNF716 441234 broad.mit.edu 37 7 57529296 57529296 + Missense_Mutation SNP G G C TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr7:57529296G>C ENST00000420713.1 + 4 1241 c.1129G>C c.(1129-1131)Gag>Cag p.E377Q NM_001159279.1 NP_001152751.1 zinc finger protein 716 breast(1)|kidney(1)|lung(20)|ovary(2) 24 TCATACTGGAGAGAAACCCTA 0.418000 3 36 0 0 0.115264 0 0 RIOK1 83732 broad.mit.edu 37 6 7396953 7396953 + Missense_Mutation SNP G G T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr6:7396953G>T ENST00000379834.2 + 4 892 c.385G>T c.(385-387)Gat>Tat p.D129Y NM_031480.2|NM_153005.1 NP_113668.2|NP_694550.1 Q9BRS2 RIOK1_HUMAN RIO kinase 1 129 ATP binding|protein serine/threonine kinase activity cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 19 Ovarian(93;0.0418) AAATGTTACTGATTCCGTCAT 0.328000 9 104 3.09899e-07 4.98903e-07 0.047766 1 0 SETD2 29072 broad.mit.edu 37 3 47098912 47098912 + Missense_Mutation SNP C C A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr3:47098912C>A ENST00000409792.3 - 15 6404 c.6362G>T c.(6361-6363)cGc>cTc p.R2121L NM_014159.6 NP_054878.5 Q9BYW2 SETD2_HUMAN SET domain containing 2 2121 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5) 141 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) CAACTTCCGGCGTTCCTCTGT 0.428000 """N, F, S, Mis""" clear cell renal carcinoma 6 66 8.12818e-05 0.000116174 0.029380 1 0 PGK1 5230 broad.mit.edu 37 X 77378447 77378447 + Splice_Site SNP G G T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chrX:77378447G>T ENST00000373316.4 + 7 923 c.e7+1 PGK1_ENST00000442431.1_Splice_Site|PGK1_ENST00000537456.1_Splice_Site NM_000291.3 NP_000282.1 P00558 PGK1_HUMAN phosphoglycerate kinase 1 gluconeogenesis|glycolysis cytosol ATP binding|phosphoglycerate kinase activity breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 24 CAACATGGAGGTAGGAAACAA 0.383000 17 100 1.67942e-08 2.78005e-08 0.038395 1 0 YEATS2 55689 broad.mit.edu 37 3 183446632 183446632 + Nonsense_Mutation SNP G G T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr3:183446632G>T ENST00000305135.5 + 7 1000 c.805G>T c.(805-807)Gaa>Taa p.E269* NM_018023.4 NP_060493.3 Q9ULM3 YETS2_HUMAN YEATS domain containing 2 269 YEATS. histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex TBP-class protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3) 49 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) TGACCTTGTGGAAGTTAGGTA 0.378000 5 52 0.00116845 0.00148205 0.021553 1 0 UGT2B4 7363 broad.mit.edu 37 4 70346367 70346367 + Silent SNP C C T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr4:70346367C>T ENST00000305107.6 - 6 1618 c.1572G>A c.(1570-1572)aaG>aaA p.K524K UGT2B4_ENST00000512583.1_3'UTR|UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Silent_p.K388K NM_021139.2 NP_066962.2 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B4 524 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 47 CTCTTTTCCCCTTCTTTCCTG 0.408000 4 67 0 0 0.009096 0 0 ZNF107 51427 broad.mit.edu 37 7 64167568 64167568 + Nonsense_Mutation SNP G G T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr7:64167568G>T ENST00000395391.1 + 4 2261 c.886G>T c.(886-888)Gga>Tga p.G296* ZNF107_ENST00000344930.3_Nonsense_Mutation_p.G296*|ZNF107_ENST00000423627.1_Nonsense_Mutation_p.G296* Q9UII5 ZN107_HUMAN zinc finger protein 107 296 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1) 37 Lung NSC(55;0.00948)|all_lung(88;0.0249) AATTCATACTGGAGGGAAACT 0.353000 6 70 0.0215528 0.0244766 0.021553 1 0 TUBB8P7 197331 broad.mit.edu 37 16 90161556 90161556 + RNA SNP G G A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr16:90161556G>A ENST00000564451.1 + 0 909 TUBB8P7_ENST00000567960.1_RNA GTGTGGGGCCGGAAACAACTG 0.567000 5 17 0 0 0.014758 0 0 ABCB11 8647 broad.mit.edu 37 2 169850327 169850327 + Nonsense_Mutation SNP G G T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr2:169850327G>T ENST00000263817.6 - 8 801 c.677C>A c.(676-678)tCg>tAg p.S226* NM_003742.2 NP_003733.2 O95342 ABCBB_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 11 226 ABC transmembrane type-1 1. bile acid biosynthetic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1) 57 Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016) ACAGATGGTCGAGGTCATGCG 0.423000 7 73 0.000157383 0.000218546 0.038147 1 0 SLCO5A1 81796 broad.mit.edu 37 8 70585515 70585515 + Silent SNP G G C TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr8:70585515G>C ENST00000260126.3 - 10 2842 c.2136C>G c.(2134-2136)acC>acG p.T712T SLCO5A1_ENST00000524945.1_3'UTR|SLCO5A1_ENST00000530307.1_Silent_p.T657T NM_030958.2 NP_112220.2 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, member 5A1 712 integral to membrane|plasma membrane transporter activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) AGAGCATGCAGGTGGTGTCAA 0.483000 21 203 0 0 0.076483 0 0 TTN 7273 broad.mit.edu 37 2 179636129 179636129 + Missense_Mutation SNP T T C TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr2:179636129T>C ENST00000589042.1 - 34 8149 c.7925A>G c.(7924-7926)gAa>gGa p.E2642G TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E2596G|TTN_ENST00000342175.6_Missense_Mutation_p.E2596G|TTN_ENST00000460472.2_Missense_Mutation_p.E2596G|TTN_ENST00000342992.6_Missense_Mutation_p.E2642G|TTN_ENST00000591111.1_Missense_Mutation_p.E2642G|TTN_ENST00000360870.5_Missense_Mutation_p.E2642G NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 2378 Ig-like 15. 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) GTTGGCAACTTCACATTCAAA 0.488000 6 61 0 0 0.029380 0 0 JARID2 3720 broad.mit.edu 37 6 15487658 15487658 + Missense_Mutation SNP A A T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr6:15487658A>T ENST00000341776.2 + 6 1035 c.791A>T c.(790-792)cAg>cTg p.Q264L JARID2_ENST00000541660.1_Missense_Mutation_p.Q226L|JARID2_ENST00000397311.3_Missense_Mutation_p.Q92L NM_004973.3 NP_004964.2 Q92833 JARD2_HUMAN jumonji, AT rich interactive domain 2 264 central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent chromatin binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1) 59 Breast(50;0.0142)|Ovarian(93;0.103) all_hematologic(90;0.00612) CGCCGGGAGCAGGCTTCAGCT 0.632000 6 24 0 0 0.047766 0 0 COL19A1 1310 broad.mit.edu 37 6 70745809 70745809 + Missense_Mutation SNP C C T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr6:70745809C>T ENST00000322773.4 + 14 1250 c.1148C>T c.(1147-1149)cCc>cTc p.P383L NM_001858.4 NP_001849.2 Q14993 COJA1_HUMAN collagen, type XIX, alpha 1 383 Triple-helical region 2 (COL2). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 109 GATACAGGACCCCCAGGACCA 0.323000 5 36 0 0 0.021553 0 0 CNTN5 53942 broad.mit.edu 37 11 99827596 99827596 + Silent SNP G G T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr11:99827596G>T ENST00000524871.1 + 8 1022 c.732G>T c.(730-732)cgG>cgT p.R244R CNTN5_ENST00000527185.1_Silent_p.R244R|CNTN5_ENST00000418526.2_Silent_p.R170R|CNTN5_ENST00000528682.1_Silent_p.R244R|CNTN5_ENST00000279463.3_Silent_p.R244R NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 244 Ig-like C2-type 2. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) AAGACAGCCGGCGGTTCATCT 0.408000 8 77 0.00448238 0.00554151 0.047766 1 0 KRT36 8689 broad.mit.edu 37 17 39644564 39644564 + Missense_Mutation SNP C C A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr17:39644564C>A ENST00000393986.2 - 4 692 c.480G>T c.(478-480)aaG>aaT p.K160N KRT36_ENST00000328119.6_Missense_Mutation_p.K210N O76013 KRT36_HUMAN keratin 36 210 Coil 1B.|Rod. intermediate filament protein binding|structural constituent of epidermis breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1) 17 Breast(137;0.000286) CCAGGTCAGCCTTGCACAGGG 0.582000 11 67 3.07112e-06 4.73599e-06 0.080935 1 0 OR5H6 79295 broad.mit.edu 37 3 97983440 97983440 + Silent SNP G G A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr3:97983440G>A ENST00000383696.2 + 1 353 c.312G>A c.(310-312)aaG>aaA p.K104K RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005479.1 NP_001005479.1 Q8NGV6 OR5H6_HUMAN olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene) 104 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 TCTTAGCTAAGAGTAAGATGA 0.393000 7 94 0 0 0.038147 0 0 C14orf28 122525 broad.mit.edu 37 14 45369771 45369771 + Missense_Mutation SNP A A T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr14:45369771A>T ENST00000325192.3 + 2 408 c.133A>T c.(133-135)Aca>Tca p.T45S RP11-857B24.5_ENST00000555157.1_RNA|C14orf28_ENST00000557112.1_Missense_Mutation_p.T45S NM_001017923.1 NP_001017923.1 Q4W4Y0 CN028_HUMAN chromosome 14 open reading frame 28 45 endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(2) 11 AGTATCCTGTACACCACTCTA 0.358000 3 33 0 0 0.014758 0 0 NUP188 23511 broad.mit.edu 37 9 131752435 131752435 + Missense_Mutation SNP A A G TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr9:131752435A>G ENST00000372577.2 + 25 2591 c.2570A>G c.(2569-2571)aAa>aGa p.K857R NM_015354.1 NP_056169.1 Q5SRE5 NU188_HUMAN nucleoporin 188kDa 857 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 60 GTTCTAGCCAAATACATCTAC 0.463000 23 198 0 0 0.116897 0 0 ANK2 287 broad.mit.edu 37 4 114279001 114279001 + Missense_Mutation SNP A A T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr4:114279001A>T ENST00000357077.4 + 38 9280 c.9227A>T c.(9226-9228)cAg>cTg p.Q3076L ANK2_ENST00000264366.6_Missense_Mutation_p.Q3043L|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 3043 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) AGACAATCACAGGGTACCACC 0.463000 11 78 0 0 0.080935 0 0 NRAP 4892 broad.mit.edu 37 10 115391688 115391688 + Silent SNP C C A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr10:115391688C>A ENST00000369358.4 - 17 1912 c.1668G>T c.(1666-1668)ggG>ggT p.G556G NRAP_ENST00000360478.3_Silent_p.G521G|NRAP_ENST00000369360.3_Silent_p.G521G|NRAP_ENST00000359988.3_Silent_p.G556G Q86VF7 NRAP_HUMAN nebulin-related anchoring protein 556 fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) CAAATCCTTTCCCCTTTGTCT 0.453000 6 150 0.00198382 0.00247344 0.029380 1 0 TANC1 85461 broad.mit.edu 37 2 160020027 160020027 + Silent SNP C C T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr2:160020027C>T ENST00000263635.6 + 8 1153 c.916C>T c.(916-918)Cta>Tta p.L306L TANC1_ENST00000454300.1_Silent_p.L200L NM_001145909.1|NM_033394.2 NP_001139381.1|NP_203752.2 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 306 cell junction|postsynaptic density|postsynaptic membrane binding breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 77 CTCCAGCTCACTAATAATGCC 0.552000 3 37 0 0 0.115264 0 0 PAX5 5079 broad.mit.edu 37 9 36882059 36882059 + Silent SNP G G A rs144574685 byFrequency TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr9:36882059G>A ENST00000358127.4 - 8 1028 c.954C>T c.(952-954)caC>caT p.H318H PAX5_ENST00000520154.1_Intron|PAX5_ENST00000446742.1_Intron|PAX5_ENST00000523145.1_Intron|PAX5_ENST00000414447.1_Silent_p.H275H|PAX5_ENST00000377852.2_Intron|PAX5_ENST00000523241.1_Intron|PAX5_ENST00000377853.2_Silent_p.H318H|PAX5_ENST00000377847.2_Intron|PAX5_ENST00000520281.1_Silent_p.H275H|PAX5_ENST00000522003.1_Silent_p.H210H NM_016734.1 NP_057953.1 Q02548 PAX5_HUMAN paired box 5 318 cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter nucleus DNA binding p.?(22) PAX5/JAK2(18) NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1) 171 all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44) GBM - Glioblastoma multiforme(29;0.0108) CGGGGGGGACGTGTGGAGGGT 0.642000 """T, Mis, D, F, S""" """IGH@, ETV6, PML, FOXP1, ZNF521, ELN""" """NHL, ALL, B-ALL""" 4 12 0 0 0.009096 0 0 KCNG3 170850 broad.mit.edu 37 2 42671148 42671148 + Missense_Mutation SNP C C A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr2:42671148C>A ENST00000306078.1 - 2 1832 c.1237G>T c.(1237-1239)Gtg>Ttg p.V413L KCNG3_ENST00000394973.4_Missense_Mutation_p.V402L NM_133329.5|NM_172344.2 NP_579875.1|NP_758847.1 Q8TAE7 KCNG3_HUMAN potassium voltage-gated channel, subfamily G, member 3 413 endoplasmic reticulum|voltage-gated potassium channel complex protein binding central_nervous_system(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2) 6 TAACACTGCACAAAGCTATGG 0.393000 6 82 3.59834e-05 5.32481e-05 0.021553 1 0 NRXN3 9369 broad.mit.edu 37 14 80164064 80164064 + Silent SNP C C G TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr14:80164064C>G ENST00000281127.7 + 4 1572 c.693C>G c.(691-693)ctC>ctG p.L231L RP11-242P2.1_ENST00000553322.1_RNA|NRXN3_ENST00000335750.5_Silent_p.L863L|NRXN3_ENST00000557594.1_Silent_p.L231L|NRXN3_ENST00000556003.1_Intron|NRXN3_ENST00000428277.2_Silent_p.L261L|NRXN3_ENST00000554719.1_Silent_p.L863L NM_138970.3 NP_620426.2 Q9HDB5 NRX3B_HUMAN neurexin 3 231 Laminin G-like. angiogenesis|cell adhesion integral to membrane NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1) 104 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) TCTCTGGGCTCTATTATGATG 0.473000 8 105 0 0 0.047766 0 0 ERAP2 64167 broad.mit.edu 37 5 96239250 96239250 + Silent SNP G G T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr5:96239250G>T ENST00000437043.3 + 13 2709 c.1998G>T c.(1996-1998)gtG>gtT p.V666V CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000379904.4_Silent_p.V621V NM_001130140.1|NM_022350.3 NP_001123612.1|NP_071745.1 Q6P179 ERAP2_HUMAN endoplasmic reticulum aminopeptidase 2 666 antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105) COAD - Colon adenocarcinoma(37;0.0703) TTCATGATGTGTTTCAGCTAG 0.408000 5 40 0.00116845 0.00148205 0.021553 1 0 KIF21B 23046 broad.mit.edu 37 1 200967546 200967546 + Silent SNP T T A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr1:200967546T>A ENST00000332129.2 - 14 2359 c.2043A>T c.(2041-2043)acA>acT p.T681T KIF21B_ENST00000461742.2_Silent_p.T681T|KIF21B_ENST00000360529.5_Silent_p.T681T|KIF21B_ENST00000422435.2_Silent_p.T681T NM_001252102.1|NM_001252103.1|NM_017596.3 NP_001239031.1|NP_001239032.1|NP_060066.2 O75037 KI21B_HUMAN kinesin family member 21B 681 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 GCTCCAGCTGTGTGTCTCGGA 0.607000 7 36 0 0 0.038147 0 0 KIAA1024 23251 broad.mit.edu 37 15 79749995 79749995 + Silent SNP C C T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr15:79749995C>T ENST00000305428.3 + 2 1581 c.1506C>T c.(1504-1506)caC>caT p.H502H NM_015206.2 NP_056021.1 Q9UPX6 K1024_HUMAN KIAA1024 502 integral to membrane central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1) 49 GTGACAGGCACACCATGAAGC 0.537000 6 51 0 0 0.029380 0 0 LMX1A 4009 broad.mit.edu 37 1 165182944 165182944 + Silent SNP G G T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr1:165182944G>T ENST00000342310.3 - 5 985 c.603C>A c.(601-603)atC>atA p.I201I LMX1A_ENST00000294816.2_Silent_p.I201I|LMX1A_ENST00000367893.4_Silent_p.I201I NM_177398.3 NP_796372.1 Q8TE12 LMX1A_HUMAN LIM homeobox transcription factor 1, alpha 201 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4) 35 all_hematologic(923;0.248) GAGTTGTCAAGATGGTTCTCG 0.537000 13 204 1.05317e-09 1.81517e-09 0.119110 1 0 AUTS2 26053 broad.mit.edu 37 7 70246623 70246623 + Missense_Mutation SNP A A G TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr7:70246623A>G ENST00000342771.4 + 15 2348 c.2027A>G c.(2026-2028)cAt>cGt p.H676R AUTS2_ENST00000406775.2_Missense_Mutation_p.H652R NM_015570.2 NP_056385.1 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 676 breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 50 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) TCAGACCCACATAAGCTGGAC 0.547000 5 179 0 0 0.021553 0 0 ACAP2 23527 broad.mit.edu 37 3 195063225 195063225 + Missense_Mutation SNP T T A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr3:195063225T>A ENST00000326793.6 - 6 733 c.503A>T c.(502-504)cAc>cTc p.H168L NM_012287.5 NP_036419.3 Q15057 ACAP2_HUMAN ArfGAP with coiled-coil, ankyrin repeat and PH domains 2 168 BAR. regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2) 27 GAGGGCTATGTGTCGGAAACA 0.378000 5 65 0 0 0.021553 0 0 ACSF3 197322 broad.mit.edu 37 16 89212437 89212437 + Missense_Mutation SNP G G T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr16:89212437G>T ENST00000317447.4 + 10 1970 c.1593G>T c.(1591-1593)agG>agT p.R531S ACSF3_ENST00000406948.3_Missense_Mutation_p.R531S|ACSF3_ENST00000378345.4_Missense_Mutation_p.R266S|ACSF3_ENST00000537116.1_3'UTR NM_001127214.2|NM_001243279.1|NM_174917.3 NP_001120686.1|NP_001230208.1|NP_777577.2 Q4G176 ACSF3_HUMAN acyl-CoA synthetase family member 3 531 fatty acid metabolic process mitochondrion acid-thiol ligase activity|ATP binding central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1) 15 BRCA - Breast invasive adenocarcinoma(80;0.0281) TGTCCCACAGGGAGCTCAAAG 0.612000 3 32 0.00909568 0.0106177 0.009096 1 0 GPR98 84059 broad.mit.edu 37 5 90040909 90040909 + Nonsense_Mutation SNP G G A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr5:90040909G>A ENST00000405460.2 + 51 10692 c.10596G>A c.(10594-10596)tgG>tgA p.W3532* NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 3532 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TTTACTGCTGGAATTCGGAGC 0.393000 6 270 0 0 0.038147 0 0 FAM47B 170062 broad.mit.edu 37 X 34962649 34962649 + Missense_Mutation SNP G G T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chrX:34962649G>T ENST00000329357.5 + 1 1737 c.1701G>T c.(1699-1701)ttG>ttT p.L567F NM_152631.2 NP_689844.2 Q8NA70 FA47B_HUMAN family with sequence similarity 47, member B 567 breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 71 ATGAACCTTTGATTGACCCCA 0.468000 11 197 3.86212e-05 5.68644e-05 0.069234 1 0 FOXP2 93986 broad.mit.edu 37 7 114294037 114294037 + Silent SNP C C A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr7:114294037C>A ENST00000393500.3 + 16 1834 c.1014C>A c.(1012-1014)ccC>ccA p.P338P FOXP2_ENST00000403559.4_Silent_p.P430P|FOXP2_ENST00000393498.2_Silent_p.P392P|FOXP2_ENST00000393489.3_Silent_p.P321P|FOXP2_ENST00000393491.3_Silent_p.P321P|FOXP2_ENST00000390668.3_Silent_p.P437P|FOXP2_ENST00000393494.2_Silent_p.P413P|FOXP2_ENST00000350908.4_Silent_p.P413P|FOXP2_ENST00000360232.4_Silent_p.P413P|FOXP2_ENST00000408937.3_Silent_p.P438P O15409 FOXP2_HUMAN forkhead box P2 413 camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning 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(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 ACATGCGACCCTCAGAGCCCA 0.393000 13 143 8.60227e-14 1.56551e-13 0.146539 1 0 CNOT1 23019 broad.mit.edu 37 16 58572121 58572121 + Missense_Mutation SNP C C G TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr16:58572121C>G ENST00000317147.5 - 37 5517 c.5185G>C c.(5185-5187)Gag>Cag p.E1729Q CNOT1_ENST00000569240.1_Missense_Mutation_p.E1724Q|CNOT1_ENST00000245138.4_Missense_Mutation_p.E580Q NM_001265612.1|NM_016284.4 NP_001252541.1|NP_057368.3 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 1729 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) ATTAGCAGCTCCACAGCCTCC 0.383000 5 64 0 0 0.021553 0 0 KIF26B 55083 broad.mit.edu 37 1 245848860 245848860 + Missense_Mutation SNP G G A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr1:245848860G>A ENST00000366518.4 + 9 1536 c.1432G>A c.(1432-1434)Gag>Aag p.E478K KIF26B_ENST00000407071.2_Missense_Mutation_p.E859K Q2KJY2 KI26B_HUMAN kinesin family member 26B 859 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) CTCCAGCAGCGAGCAGTCCTG 0.647000 4 13 0 0 0.009096 0 0 CNTNAP2 26047 broad.mit.edu 37 7 147336343 147336343 + Nonsense_Mutation SNP C C A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr7:147336343C>A ENST00000361727.3 + 13 2559 c.2043C>A c.(2041-2043)taC>taA p.Y681* NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 681 Fibrinogen C-terminal. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) GTGCCGAGTACTGCGAGCAGT 0.483000 HNSCC(39;0.1) 12 66 4.36969e-10 7.75951e-10 0.105934 1 0 DARC 2532 broad.mit.edu 37 1 159175743 159175743 + Missense_Mutation SNP G G A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr1:159175743G>A ENST00000537147.1 + 3 1357 c.514G>A c.(514-516)Gga>Aga p.G172R DARC_ENST00000368121.2_Missense_Mutation_p.G174R|DARC_ENST00000368122.2_Missense_Mutation_p.G172R Q16570 DUFFY_HUMAN Duffy blood group, atypical chemokine receptor 172 defense response integral to membrane|plasma membrane C-C chemokine binding|chemokine receptor activity large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 8 all_hematologic(112;0.0429) GCTCACTGTGGGAATTTGGGG 0.632000 3 11 0 0 0.009096 0 0 CXorf22 170063 broad.mit.edu 37 X 35944189 35944189 + Missense_Mutation SNP C C G TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chrX:35944189C>G ENST00000297866.5 + 2 371 c.305C>G c.(304-306)aCa>aGa p.T102R NM_152632.3 NP_689845.2 Q6ZTR5 CX022_HUMAN chromosome X open reading frame 22 102 breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3) 44 CTTCAGATGACAGCTATGGTG 0.363000 9 50 0 0 0.080935 0 0 PRKDC 5591 broad.mit.edu 37 8 48689457 48689457 + Missense_Mutation SNP T T G TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr8:48689457T>G ENST00000314191.2 - 86 12183 c.12127A>C c.(12127-12129)Ata>Cta p.I4043L PRKDC_ENST00000338368.3_Missense_Mutation_p.I4012L|PRKDC_ENST00000523565.1_5'UTR NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 4044 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) GCGTAACATATTTTCTGTCGG 0.363000 Non-homologous end-joining 3 29 0 0 0.115264 0 0 GABRG1 2565 broad.mit.edu 37 4 46060352 46060352 + Silent SNP C C A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr4:46060352C>A ENST00000295452.4 - 7 965 c.798G>T c.(796-798)ctG>ctT p.L266L NM_173536.3 NP_775807.2 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 1 266 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) TTCTTCTGCTCAGGTCAAAAA 0.303000 5 68 5.4927e-09 9.19635e-09 0.047766 1 0 PCSK5 5125 broad.mit.edu 37 9 78938198 78938198 + Missense_Mutation SNP T T A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr9:78938198T>A ENST00000545128.1 + 31 4790 c.4252T>A c.(4252-4254)Tgc>Agc p.C1418S NM_001190482.1 NP_001177411.1 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 667 anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 GACTAAGGAGTGCAGAGGTAA 0.502000 6 31 0 0 0.021553 0 0 PLCB4 5332 broad.mit.edu 37 20 9400527 9400527 + Missense_Mutation SNP G G A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr20:9400527G>A ENST00000378501.2 + 22 2104 c.2089G>A c.(2089-2091)Ggt>Agt p.G697S PLCB4_ENST00000378473.3_Missense_Mutation_p.G709S|PLCB4_ENST00000334005.3_Missense_Mutation_p.G697S|PLCB4_ENST00000278655.4_Missense_Mutation_p.G697S|PLCB4_ENST00000414679.2_Missense_Mutation_p.G709S|PLCB4_ENST00000378493.1_Missense_Mutation_p.G697S|PLCB4_ENST00000492632.1_3'UTR NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 697 C2. intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 TCCTGTTGATGGTGTTATTGC 0.423000 7 69 0 0 0.047766 0 0 MAGEB4 4115 broad.mit.edu 37 X 30261234 30261234 + Missense_Mutation SNP A A G TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chrX:30261234A>G ENST00000378982.2 + 1 1178 c.982A>G c.(982-984)Aca>Gca p.T328A NM_002367.3 NP_002358.1 O15481 MAGB4_HUMAN melanoma antigen family B, 4 328 breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 27 GCGTGGCACTACAGCCATGAC 0.522000 3 19 0 0 0.009096 0 0 TMEM132E 124842 broad.mit.edu 37 17 32956216 32956216 + Missense_Mutation SNP T T A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr17:32956216T>A ENST00000321639.5 + 5 1389 c.1061T>A c.(1060-1062)cTg>cAg p.L354Q NM_207313.1 NP_997196.1 Q6IEE7 T132E_HUMAN transmembrane protein 132E 354 integral to membrane breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 57 BRCA - Breast invasive adenocarcinoma(366;0.231) ATCCTGCCCCTGGCCATGGTG 0.577000 4 34 0 0 0.021553 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43945021 43945021 + Silent SNP G G T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr12:43945021G>T ENST00000389420.3 - 2 143 c.144C>A c.(142-144)gtC>gtA p.V48V ADAMTS20_ENST00000553158.1_Silent_p.V48V NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 48 proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) CAAACTCATTGACCCGCTCGG 0.587000 5 51 0.00116845 0.00148205 0.021553 1 0 DNAH8 1769 broad.mit.edu 37 6 38866152 38866152 + Missense_Mutation SNP T T C TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr6:38866152T>C ENST00000359357.3 + 59 8662 c.8408T>C c.(8407-8409)aTt>aCt p.I2803T DNAH8_ENST00000441566.1_Missense_Mutation_p.I2767T|DNAH8_ENST00000449981.2_Missense_Mutation_p.I3020T dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 ACTCATCTTATTAAGGTCCTA 0.299000 8 52 0 0 0.038147 0 0 SRP72 6731 broad.mit.edu 37 4 57357634 57357634 + Missense_Mutation SNP C C G TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr4:57357634C>G ENST00000342756.5 + 16 2261 c.1540C>G c.(1540-1542)Cta>Gta p.L514V SRP72_ENST00000510663.1_Missense_Mutation_p.L453V NM_006947.3 NP_008878.3 O76094 SRP72_HUMAN signal recognition particle 72kDa 514 response to drug|SRP-dependent cotranslational protein targeting to membrane cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting 7S RNA binding|signal recognition particle binding breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2) 22 Glioma(25;0.08)|all_neural(26;0.101) TAGTATGTCTCTAAAAGTAGA 0.373000 7 112 0 0 0.029380 0 0 OR2T33 391195 broad.mit.edu 37 1 248436331 248436331 + Silent SNP G G T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr1:248436331G>T ENST00000318021.2 - 1 807 c.786C>A c.(784-786)tcC>tcA p.S262S NM_001004695.1 NP_001004695.1 Q8NG76 O2T33_HUMAN olfactory receptor, family 2, subfamily T, member 33 262 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4) 67 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) TGGACCTATGGGATTTGGGTC 0.478000 9 164 2.80697e-09 4.80961e-09 0.080935 1 0 SMC3 9126 broad.mit.edu 37 10 112361781 112361781 + Missense_Mutation SNP A A C TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr10:112361781A>C ENST00000361804.4 + 25 3076 c.2950A>C c.(2950-2952)Aaa>Caa p.K984Q NM_005445.3 NP_005436.1 Q9UQE7 SMC3_HUMAN structural maintenance of chromosomes 3 984 cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(234;0.0848)|Lung NSC(174;0.238) Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127) CCATGTTAACAAAAAGGCTTT 0.308000 7 61 0 0 0.038147 0 0 MYH10 4628 broad.mit.edu 37 17 8526461 8526461 + Missense_Mutation SNP A A G TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr17:8526461A>G ENST00000360416.3 - 2 242 c.104T>C c.(103-105)cTa>cCa p.L35P MYH10_ENST00000269243.4_Missense_Mutation_p.L35P|MYH10_ENST00000396239.1_Missense_Mutation_p.L35P|MYH10_ENST00000379980.4_Missense_Mutation_p.L35P NM_001256012.1 NP_001242941.1 P35580 MYH10_HUMAN myosin, heavy chain 10, non-muscle 35 Myosin head-like. actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1) 52 AATCCACACTAGCTTTTTAGC 0.483000 10 99 0 0 0.080935 0 0 CHD7 55636 broad.mit.edu 37 8 61654705 61654705 + Silent SNP G G T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr8:61654705G>T ENST00000423902.2 + 2 1193 c.714G>T c.(712-714)gtG>gtT p.V238V CHD7_ENST00000525508.1_Silent_p.V238V|CHD7_ENST00000524602.1_Silent_p.V238V NM_017780.3 NP_060250.2 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 238 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) TGTCCCACGTGCCCCAGCAGA 0.577000 5 169 0.000602214 0.000794815 0.014758 1 0 KRTAP11-1 337880 broad.mit.edu 37 21 32253488 32253488 + Missense_Mutation SNP C C A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr21:32253488C>A ENST00000332378.4 - 1 386 c.356G>T c.(355-357)aGt>aTt p.S119I NM_175858.2 NP_787054.1 Q8IUC1 KR111_HUMAN keratin associated protein 11-1 119 4 X 10 AA approximate repeats. keratin filament structural molecule activity breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1) 18 TTGGCAGACACTGGAGATGCC 0.577000 6 44 8.12818e-05 0.000116174 0.029380 1 0 QRFPR 84109 broad.mit.edu 37 4 122250793 122250793 + Missense_Mutation SNP G G T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr4:122250793G>T ENST00000394427.2 - 6 1383 c.972C>A c.(970-972)aaC>aaA p.N324K QRFPR_ENST00000334383.5_3'UTR NM_198179.2 NP_937822.2 Q96P65 QRFPR_HUMAN pyroglutamylated RFamide peptide receptor 324 plasma membrane neuropeptide Y receptor activity endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1) 28 TACAGATGGAGTTGGAAAATC 0.284000 3 40 0.004672 0.0056566 0.115264 1 0 ZP4 57829 broad.mit.edu 37 1 238053264 238053264 + Silent SNP G G T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr1:238053264G>T ENST00000366570.4 - 3 461 c.303C>A c.(301-303)tcC>tcA p.S101S RP11-193H5.1_ENST00000450451.1_RNA NM_021186.3 NP_067009.1 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 101 acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) TGATGTAGTGGGAGTCCTGGA 0.557000 13 282 6.72482e-11 1.20882e-10 0.132662 1 0 LINC01128 643837 broad.mit.edu 37 1 771837 771838 + RNA INS - - C TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr1:771837_771838insC ENST00000445118.2 + 0 270 NR_047519.1|NR_047520.1|NR_047521.1|NR_047522.1|NR_047523.1|NR_047524.1|NR_047525.1 gcactgcagtgcccccccagcc 0.609 2 4 --- --- --- --- LINC01135 100131060 broad.mit.edu 37 1 59316688 59316689 + RNA INS - - A rs151137060 byFrequency TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr1:59316688_59316689insA ENST00000419531.2 + 0 146 RP11-63G10.2_ENST00000424592.1_lincRNA NR_034014.1 TTTTTTTTTTTAAAGCATCCTT 0.307 2 4 --- --- --- --- GNG12-AS1 100289178 broad.mit.edu 37 1 68466491 68466492 + RNA INS - - T rs75908389 by1000genomes TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr1:68466491_68466492insT ENST00000420587.1 + 0 134 GNG12-AS1_ENST00000413628.1_RNA|GNG12-AS1_ENST00000414904.1_RNA NR_040077.1 Q6ZVV5 Q6ZVV5_HUMAN tgtgtagctccctctctccctc 0.431 6 6 --- --- --- --- RP11-424D14.1 0 broad.mit.edu 37 1 69534707 69534707 + RNA DEL T T - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr1:69534707delT ENST00000425517.1 + 0 150 atcttagttattttttgtctt 0.308 2 4 --- --- --- --- RP11-424D14.1 0 broad.mit.edu 37 1 69617085 69617085 + RNA DEL A A - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr1:69617085delA ENST00000425517.1 + 0 317 gtcataactgaaaaaaaaaag 0.234 2 4 --- --- --- --- RP4-788P17.1 0 broad.mit.edu 37 1 74144310 74144310 + RNA DEL G G - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr1:74144310delG ENST00000424953.1 + 0 26 ctggagttctggtgggtagta 0.388 2 4 --- --- --- --- LINC01362 103283057 broad.mit.edu 37 1 83519520 83519520 + RNA DEL G G - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr1:83519520delG ENST00000452901.1 + 0 1056 CAAAGCTTCAGGATGATCAAA 0.353 2 4 --- --- --- --- LINC01362 103283057 broad.mit.edu 37 1 83586786 83586789 + RNA DEL TTTA TTTA - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr1:83586786_83586789delTTTA ENST00000452901.1 + 0 1539 ggtttttggttttatttatttatt 0.314 2 4 --- --- --- --- LOC101927587 101927587 broad.mit.edu 37 1 84186085 84186086 + RNA DEL TT TT - rs149358100 TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr1:84186085_84186086delTT ENST00000417975.1 - 0 280 ataggtgtactttttttttttt 0.366 3 4 --- --- --- --- PKN2-AS1 101927891 broad.mit.edu 37 1 89149199 89149200 + RNA INS - - A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr1:89149199_89149200insA ENST00000458097.1 - 0 41 TAAAACAACCCAAAAAAACCCA 0.426 2 4 --- --- --- --- LINC01057 101928079 broad.mit.edu 37 1 95196342 95196342 + RNA DEL T T - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr1:95196342delT ENST00000452922.1 - 0 506 TGAGTTTCCCTTTCCTCCAAC 0.567 2 4 --- --- --- --- LOC729987 729987 broad.mit.edu 37 1 98677137 98677138 + RNA INS - - T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr1:98677137_98677138insT ENST00000418344.1 + 0 64 NR_046088.1 tctattggtcatttttttccct 0.455 2 4 --- --- --- --- RP11-233E12.1 0 broad.mit.edu 37 1 107364820 107364821 + RNA INS - - T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr1:107364820_107364821insT ENST00000415910.2 + 0 660 aatgctaaaaattttttcttgt 0.262 2 4 --- --- --- --- RP11-88H9.2 0 broad.mit.edu 37 1 112536467 112536467 + RNA DEL G G - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr1:112536467delG ENST00000438293.1 + 0 652 TCACCTCGATGGGCCCGCAGG 0.488 2 4 --- --- --- --- RP4-543J13.1 0 broad.mit.edu 37 1 114763057 114763057 + RNA DEL T T - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr1:114763057delT ENST00000420156.2 - 0 73 tacatcaaacttaatagccgt 0.239 2 4 --- --- --- --- RP4-663N10.1 0 broad.mit.edu 37 1 115898210 115898211 + RNA INS - - TT rs71582523 TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr1:115898210_115898211insTT ENST00000425449.1 + 0 207 GGAtctctctctctctctctct 0.436 2 4 --- --- --- --- LINC01525 104355292 broad.mit.edu 37 1 117863214 117863215 + RNA INS - - T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr1:117863214_117863215insT ENST00000442182.1 + 0 298 GGACCCAAACCTTTTTGTTTCT 0.421 2 4 --- --- --- --- SRGAP2-AS1 100873165 broad.mit.edu 37 1 121140484 121140485 + RNA DEL AA AA - rs77501191 TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr1:121140484_121140485delAA ENST00000417218.1 + 0 551 tgatggggttaaaaaaaaaaaa 0.446 3 5 --- --- --- --- RP11-782C8.2 0 broad.mit.edu 37 1 143147311 143147311 + RNA DEL T T - rs72338349 TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr1:143147311delT ENST00000412204.2 - 0 2503 RP11-782C8.1_ENST00000438000.1_lincRNA aatttttgtattttttttttt 0.458 2 4 --- --- --- --- RP11-782C8.2 0 broad.mit.edu 37 1 143161518 143161519 + RNA INS - - C rs78859366 TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr1:143161518_143161519insC ENST00000412204.2 - 0 2503 RP11-782C8.4_ENST00000424474.2_lincRNA|RP11-782C8.1_ENST00000438000.1_lincRNA ttaaagtataattaaaaaaaag 0.337 3 5 --- --- --- --- LOC101927648 101927648 broad.mit.edu 37 1 143425098 143425099 + RNA INS - - A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr1:143425098_143425099insA ENST00000423249.1 - 0 59 ccagtaatgctaaaaaccaacc 0.406 2 4 --- --- --- --- SRGAP2B 647135 broad.mit.edu 37 1 143992245 143992245 + RNA DEL A A - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr1:143992245delA ENST00000467933.1 + 0 915 aaaaaaaaacaaaaaaaaaaa 0.398 2 4 --- --- --- --- FLG-AS1 339400 broad.mit.edu 37 1 152204663 152204664 + RNA INS - - A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr1:152204663_152204664insA ENST00000420707.1 + 0 158 FLG-AS1_ENST00000593011.1_RNA actatttattgaaaaagatatt 0.322 2 4 --- --- --- --- RP1-91G5.3 0 broad.mit.edu 37 1 152356147 152356147 + RNA DEL T T - rs35242055 TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr1:152356147delT ENST00000411804.1 + 0 94 cgtctgtatgttttttttttt 0.274 4 2 --- --- --- --- RP1-79C4.1 0 broad.mit.edu 37 1 170598837 170598837 + RNA DEL C C - rs537109 by1000genomes TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr1:170598837delC ENST00000413005.1 + 0 162 tgaggattttcgcatcaatgt 0.398 3 3 --- --- --- --- RP1-15D23.2 0 broad.mit.edu 37 1 172751362 172751363 + RNA INS - - T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr1:172751362_172751363insT ENST00000432694.1 + 0 223 ggatgtcatcctttttttatgg 0.347 2 4 --- --- --- --- LINC01344 400799 broad.mit.edu 37 1 182192500 182192500 + RNA DEL C C - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr1:182192500delC ENST00000449842.1 - 0 410 gttctgtccacggcaatcagg 0.403 4 8 --- --- --- --- LINC01350 101929093 broad.mit.edu 37 1 185580116 185580117 + RNA INS - - A rs71810047 TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr1:185580116_185580117insA ENST00000436955.1 - 0 424 TTAGATTATTGAAAAAAAAAAA 0.307 2 4 --- --- --- --- LINC01036 104169671 broad.mit.edu 37 1 187146233 187146234 + RNA INS - - TG rs57592159 by1000genomes TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr1:187146233_187146234insTG ENST00000458683.1 + 0 105 ttttcacgtattggtAGGtgta 0.322 4 3 --- --- --- --- RP11-541F9.2 0 broad.mit.edu 37 1 191865205 191865205 + RNA DEL A A - rs71787251 TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr1:191865205delA ENST00000430776.1 + 0 206 caagaaaaagaaaaaaaaagt 0.303 7 1 --- --- --- --- RP11-739N20.2 0 broad.mit.edu 37 1 204369477 204369477 + RNA DEL A A - rs2942129 by1000genomes TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr1:204369477delA ENST00000443515.1 + 0 146 CATCttttttattttcaacat 0.408 3 6 --- --- --- --- RP11-354K1.2 0 broad.mit.edu 37 1 211811089 211811090 + RNA INS - - T rs141131357 TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr1:211811089_211811090insT ENST00000452024.2 - 0 45 ttttttctttcttttttttttt 0.446 2 4 --- --- --- --- RP11-323I1.1 0 broad.mit.edu 37 1 213929921 213929921 + RNA DEL G G - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr1:213929921delG ENST00000456240.1 + 0 143 atcacactttggtaatttttg 0.388 2 4 --- --- --- --- RP11-400N13.1 0 broad.mit.edu 37 1 222356627 222356628 + RNA INS - - A rs71849793 TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr1:222356627_222356628insA ENST00000416510.1 - 0 278 ACATGATAGACAAAAAAAAAAA 0.327 3 3 --- --- --- --- AC099344.2 0 broad.mit.edu 37 2 11498377 11498379 + RNA DEL TTG TTG - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr2:11498377_11498379delTTG ENST00000430897.1 - 0 539 tcattgtgttttgttgttgttgt 0.414 2 4 --- --- --- --- LOC100506457 100506457 broad.mit.edu 37 2 12290360 12290373 + RNA DEL TGTGTGTGTGTGTG TGTGTGTGTGTGTG - rs58795207 TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr2:12290360_12290373delTGTGTGTGTGTGTG ENST00000412294.1 + 0 197 TGTTGTTAACtgtgtgtgtgtgtgtgtgtgtgtg 0.393 3 4 --- --- --- --- LOC100506457 100506457 broad.mit.edu 37 2 12329082 12329082 + RNA DEL A A - rs72302326 TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr2:12329082delA ENST00000412294.1 + 0 315 tatctctaccaaaaaaaaaaa 0.507 2 4 --- --- --- --- LOC100506457 100506457 broad.mit.edu 37 2 12677940 12677941 + RNA INS - - G TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr2:12677940_12677941insG ENST00000412294.1 + 0 412 CTGGAAGTGTTGGGGGGACCAA 0.416 2 4 --- --- --- --- AC068490.2 0 broad.mit.edu 37 2 22328503 22328504 + RNA INS - - AGGG TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr2:22328503_22328504insAGGG ENST00000450551.1 - 0 200 gggagggaggaagggagggagg 0.520 2 4 --- --- --- --- SRD5A2 6716 broad.mit.edu 37 2 31794747 31794748 + RNA INS - - A rs59267261 TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr2:31794747_31794748insA ENST00000405650.1 - 0 447 P31213 S5A2_HUMAN steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2) androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development endoplasmic reticulum membrane|integral to membrane|microsome 3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity Acute lymphoblastic leukemia(172;0.155) Azelaic Acid(DB00548)|Dutasteride(DB01126) aaacaaaaaacaaaaaaaaaaa 0.262 2 4 --- --- --- --- AC073218.1 0 broad.mit.edu 37 2 34729546 34729546 + RNA DEL T T - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr2:34729546delT ENST00000422558.1 + 0 475 attgtctctgttttttggtga 0.353 2 4 --- --- --- --- AC073218.1 0 broad.mit.edu 37 2 34821548 34821549 + RNA INS - - C rs67596429 by1000genomes TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr2:34821548_34821549insC ENST00000422558.1 + 0 475 GTGATTTTATTTAAGCCTGACT 0.332 4 6 --- --- --- --- AC009229.5 0 broad.mit.edu 37 2 38453405 38453406 + RNA INS - - A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr2:38453405_38453406insA ENST00000450854.1 - 0 533 ttcaagtattgaaaaaaaaaaa 0.312 3 5 --- --- --- --- LOC728730 728730 broad.mit.edu 37 2 39787044 39787044 + RNA DEL T T - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr2:39787044delT ENST00000449569.1 + 0 538 AC007246.3_ENST00000425775.1_RNA|AC007246.3_ENST00000446698.1_RNA|AC007246.3_ENST00000415640.1_RNA|AC007246.3_ENST00000438649.1_RNA|AC007246.3_ENST00000451547.1_RNA|AC007246.3_ENST00000426083.1_RNA|AC007246.3_ENST00000422128.1_RNA NR_037875.1 atctactctcttttttttttt 0.433 4 6 --- --- --- --- SLC8A1-AS1 100128590 broad.mit.edu 37 2 40106410 40106410 + RNA DEL A A - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr2:40106410delA ENST00000599740.1 + 0 73 catcctcagcaaaaaaaaaag 0.423 2 4 --- --- --- --- SLC8A1-AS1 100128590 broad.mit.edu 37 2 40230659 40230659 + RNA DEL T T - rs142996547 TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr2:40230659delT ENST00000418854.1 + 0 132 SLC8A1-AS1_ENST00000599740.1_RNA CAAATATGACTTTTTTTTTTT 0.313 2 4 --- --- --- --- LOC730100 730100 broad.mit.edu 37 2 51855044 51855045 + RNA DEL TG TG - rs72352043 TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr2:51855044_51855045delTG ENST00000440698.1 + 0 753 CAtgtgagtatgtgtgtgtgtg 0.307 4 4 --- --- --- --- LINC01122 400955 broad.mit.edu 37 2 58741127 58741127 + RNA DEL T T - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr2:58741127delT ENST00000452840.1 + 0 195 TTAAGTAAAATTTTAGGTAAT 0.279 2 4 --- --- --- --- AC010987.5 0 broad.mit.edu 37 2 67869601 67869602 + RNA DEL CT CT - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr2:67869601_67869602delCT ENST00000419809.1 - 0 126 GAAACTATCCCTGCACTCAAGG 0.312 2 4 --- --- --- --- AC010105.1 0 broad.mit.edu 37 2 82738379 82738379 + RNA DEL T T - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr2:82738379delT ENST00000437290.2 - 0 204 AACTTGGTTGTTTTTTTTTTT 0.348 2 4 --- --- --- --- AC019100.3 0 broad.mit.edu 37 2 108831922 108831923 + RNA DEL AC AC - rs35676430 TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr2:108831922_108831923delAC ENST00000445083.1 - 0 147 ACCACAGAATacacacacacac 0.297 7 1 --- --- --- --- SLC4A10 57282 broad.mit.edu 37 2 162372341 162372341 + RNA DEL A A - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr2:162372341delA ENST00000605990.1 + 0 344 gtttccaattaaaaaaaaaaa 0.299 2 4 --- --- --- --- AC092684.1 0 broad.mit.edu 37 2 164924634 164924635 + RNA INS - - C TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr2:164924634_164924635insC ENST00000429636.1 - 0 196 GCAGGTTTTATCCCCCCCACTA 0.386 2 4 --- --- --- --- AC092684.1 0 broad.mit.edu 37 2 165023637 165023637 + RNA DEL T T - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr2:165023637delT ENST00000429636.1 - 0 196 tttcttttgcttaggattgat 0.348 2 4 --- --- --- --- AC092684.1 0 broad.mit.edu 37 2 165125638 165125639 + RNA INS - - T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr2:165125638_165125639insT ENST00000429636.1 - 0 104 cacaagctctcttttttgcctg 0.475 2 4 --- --- --- --- AC009495.4 0 broad.mit.edu 37 2 166700178 166700179 + RNA INS - - T rs35922618 TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr2:166700178_166700179insT ENST00000428888.1 - 0 139 TTTTACCATGATTTTTTTTAGA 0.401 2 4 --- --- --- --- AC079305.11 0 broad.mit.edu 37 2 177944048 177944049 + RNA INS - - AT TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr2:177944048_177944049insAT ENST00000441205.1 - 0 370 TATAAGTATTAATATTTCAAAT 0.322 2 4 --- --- --- --- AC007319.1 0 broad.mit.edu 37 2 188152054 188152055 + RNA DEL TT TT - rs3079450 TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr2:188152054_188152055delTT ENST00000412276.1 + 0 189 AC007319.1_ENST00000453517.1_RNA AAAATGAAACTTTTCTCTTCTC 0.356 2 4 --- --- --- --- AC079613.1 0 broad.mit.edu 37 2 189509913 189509914 + RNA DEL GA GA - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr2:189509913_189509914delGA ENST00000431708.1 - 0 465 GGAGAGGGATGAGAGAGAGAGA 0.351 2 4 --- --- --- --- LINC00607 646324 broad.mit.edu 37 2 216630719 216630719 + RNA DEL G G - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr2:216630719delG ENST00000445174.1 - 0 211 NR_037195.1 AGGGCCCAGTGGGAGCTAGGG 0.493 2 4 --- --- --- --- AC007563.5 0 broad.mit.edu 37 2 217695064 217695065 + RNA INS - - G TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr2:217695064_217695065insG ENST00000447289.1 + 0 510 CAGCACTTAATGGGGGTTTCTG 0.347 2 4 --- --- --- --- AC114765.1 0 broad.mit.edu 37 2 221074109 221074110 + RNA INS - - T rs60936976 by1000genomes TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr2:221074109_221074110insT ENST00000432993.1 + 0 306 AC114765.2_ENST00000438633.1_lincRNA CCTCTCCCCCCTTTTTTTTACA 0.396 2 4 --- --- --- --- AC067956.1 0 broad.mit.edu 37 2 221335145 221335146 + RNA INS - - C rs67907879 by1000genomes TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr2:221335145_221335146insC ENST00000414512.1 + 0 368 ttaatacaCTGCCACCCCAGCA 0.396 3 2 --- --- --- --- LOC151484 151484 broad.mit.edu 37 2 231756977 231756978 + RNA INS - - A rs35067285 by1000genomes TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr2:231756977_231756978insA ENST00000415628.1 + 0 424 AC012507.3_ENST00000447074.1_RNA|AC012507.3_ENST00000455128.1_RNA NR_038238.1 gactccatctcaaaaaaaaaga 0.470 4 3 --- --- --- --- SATB1-AS1 101927777 broad.mit.edu 37 3 18533339 18533339 + RNA DEL T T - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr3:18533339delT ENST00000593741.1 + 0 234 AC144521.1_ENST00000598498.1_RNA|AC144521.1_ENST00000598740.1_RNA|AC144521.1_ENST00000596277.1_RNA|AC144521.1_ENST00000596850.1_RNA|AC144521.1_ENST00000593444.1_RNA|AC144521.1_ENST00000595388.1_RNA|AC144521.1_ENST00000595865.1_RNA|AC144521.1_ENST00000595250.1_RNA|AC144521.1_ENST00000598390.1_RNA|AC144521.1_ENST00000598688.1_RNA|AC144521.1_ENST00000456253.2_RNA|AC144521.1_ENST00000414198.1_RNA|AC144521.1_ENST00000596307.1_RNA|AC144521.1_ENST00000599762.1_RNA tatctccaacttttttttttt 0.448 3 4 --- --- --- --- SATB1-AS1 101927777 broad.mit.edu 37 3 18744932 18744932 + RNA DEL G G - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr3:18744932delG ENST00000595388.1 + 0 364 AC144521.1_ENST00000425799.2_RNA actactaagtgggctcttggg 0.483 2 4 --- --- --- --- SATB1-AS1 101927777 broad.mit.edu 37 3 18750864 18750865 + RNA INS - - T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr3:18750864_18750865insT ENST00000595388.1 + 0 364 AC144521.1_ENST00000425799.2_RNA CTAATACAGCATTTTTTCCTGT 0.421 2 4 --- --- --- --- SATB1-AS1 101927777 broad.mit.edu 37 3 18940879 18940880 + RNA DEL AC AC - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr3:18940879_18940880delAC ENST00000425799.2 + 0 463 CCACCAGAAAacacacacacac 0.371 2 4 --- --- --- --- AC133680.1 0 broad.mit.edu 37 3 25004909 25004911 + RNA DEL TTG TTG - rs34215998 TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr3:25004909_25004911delTTG ENST00000455576.1 + 0 345 CTTCCCATCCTTGTTGTCACGCT 0.448 3 4 --- --- --- --- RP11-875H7.1 0 broad.mit.edu 37 3 55378764 55378765 + RNA DEL GA GA - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr3:55378764_55378765delGA ENST00000469806.1 - 0 61 ATGTGTGTGTGAGAGAGAGAGA 0.500 3 4 --- --- --- --- SUCLG2-AS1 101927111 broad.mit.edu 37 3 67785391 67785392 + RNA INS - - G TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr3:67785391_67785392insG ENST00000482677.1 + 0 615 acagcgagtgaggggggaactg 0.510 2 4 --- --- --- --- RP11-20B7.1 0 broad.mit.edu 37 3 73898562 73898562 + RNA DEL A A - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr3:73898562delA ENST00000498832.1 + 0 68 CTCTTTGGCTAAGAAGCATCA 0.383 2 4 --- --- --- --- LOC728290 728290 broad.mit.edu 37 3 81044810 81044811 + RNA DEL AC AC - rs72402064 TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr3:81044810_81044811delAC ENST00000482617.1 + 0 60 acatttgcatacacacacacac 0.381 2 4 --- --- --- --- RP11-260O18.1 0 broad.mit.edu 37 3 82064514 82064515 + RNA INS - - T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr3:82064514_82064515insT ENST00000470263.1 + 0 244 aactaaataacttttttttttt 0.431 2 4 --- --- --- --- RP11-260O18.1 0 broad.mit.edu 37 3 82079051 82079051 + RNA DEL A A - rs111324730 TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr3:82079051delA ENST00000470263.1 + 0 244 GGACTGAGTTAAAAAAAAAAA 0.333 3 3 --- --- --- --- RP11-325B23.2 0 broad.mit.edu 37 3 98143771 98143771 + RNA DEL T T - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr3:98143771delT ENST00000508616.1 + 0 188 tactatgtacttttttttgca 0.313 2 4 --- --- --- --- RP11-457K10.1 0 broad.mit.edu 37 3 109457733 109457733 + RNA DEL A A - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr3:109457733delA ENST00000485384.1 + 0 29 cacagcaaagaaaacaatcaa 0.299 2 4 --- --- --- --- RP11-23D24.2 0 broad.mit.edu 37 3 153279747 153279748 + RNA INS - - A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr3:153279747_153279748insA ENST00000493214.2 - 0 260 cctcccttgcccaaggcttctg 0.441 2 4 --- --- --- --- RP11-379F4.4 0 broad.mit.edu 37 3 158461808 158461808 + RNA DEL G G - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr3:158461808delG ENST00000468242.1 + 0 431 RP11-379F4.4_ENST00000465477.1_RNA TTGATTCCTTGGAGTgttctt 0.418 2 4 --- --- --- --- RP11-324C10.1 0 broad.mit.edu 37 3 172962606 172962607 + RNA DEL CC CC - rs59435157 TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr3:172962606_172962607delCC ENST00000447709.1 + 0 22 ttatccctcacccccccccacc 0.450 5 2 --- --- --- --- LINCR-0002 103344926 broad.mit.edu 37 3 191278959 191278960 + RNA INS - - C TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr3:191278959_191278960insC ENST00000439804.1 + 0 61 ggggaaaactgcccccatgatc 0.441 2 4 --- --- --- --- SDHAP1 255812 broad.mit.edu 37 3 195691295 195691296 + RNA INS - - A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr3:195691295_195691296insA ENST00000427841.1 - 0 2203 NR_003264.2 aaaaacaaaacaaaaaaCCTGA 0.431 2 4 --- --- --- --- RP11-281P23.2 0 broad.mit.edu 37 4 11758117 11758117 + RNA DEL T T - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr4:11758117delT ENST00000509244.1 + 0 121 RP11-74M11.2_ENST00000506195.1_lincRNA AGGGAGCTTCTTAGCACTTCA 0.438 2 4 --- --- --- --- LINC01182 101929071 broad.mit.edu 37 4 13763788 13763789 + RNA DEL TG TG - rs34876962 TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr4:13763788_13763789delTG ENST00000510907.1 + 0 281 ggagagggGCTGTTTTTTTTTT 0.460 4 3 --- --- --- --- RP11-669M16.1 0 broad.mit.edu 37 4 14241072 14241073 + RNA INS - - A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr4:14241072_14241073insA ENST00000505628.1 + 0 332 ttatatagttgaaaaaaagaat 0.287 2 4 --- --- --- --- LINC00504 201853 broad.mit.edu 37 4 14550948 14550948 + RNA DEL A A - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr4:14550948delA ENST00000505089.1 - 0 461 actattgtggaagacagcata 0.373 2 4 --- --- --- --- RP11-3J1.1 0 broad.mit.edu 37 4 19301050 19301050 + RNA DEL T T - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr4:19301050delT ENST00000505347.1 - 0 449 AGAATGTAAATTTGTGAAGTA 0.333 2 4 --- --- --- --- RP11-3J1.1 0 broad.mit.edu 37 4 19328650 19328650 + RNA DEL T T - rs72257734 TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr4:19328650delT ENST00000505347.1 - 0 449 cactgcagcatttttttttaa 0.308 2 4 --- --- --- --- RP11-608O21.1 0 broad.mit.edu 37 4 19631780 19631781 + RNA INS - - C TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr4:19631780_19631781insC ENST00000511431.1 + 0 288 TGGAATTGCAACCCCCCCCTTA 0.366 3 6 --- --- --- --- RP11-17E2.2 0 broad.mit.edu 37 4 22317858 22317858 + RNA DEL A A - rs35133982 TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr4:22317858delA ENST00000510705.3 + 0 859 ATCTTCATGGAATCATGGGAT 0.383 5 1 --- --- --- --- LOC101928622 101928622 broad.mit.edu 37 4 33951379 33951379 + RNA DEL T T - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr4:33951379delT ENST00000505018.1 - 0 307 RP11-79E3.2_ENST00000506650.1_lincRNA TGTTGACCAGttttttttttg 0.408 2 4 --- --- --- --- LINC01258 101928776 broad.mit.edu 37 4 38460466 38460467 + RNA INS - - C TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr4:38460466_38460467insC ENST00000512517.1 - 0 184 TGGTGACAGTTCCCCAGTAAGG 0.401 2 4 --- --- --- --- RP11-506N2.1 0 broad.mit.edu 37 4 59839393 59839393 + RNA DEL T T - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr4:59839393delT ENST00000513551.1 - 0 236 ctctggcttgtttttgtaaac 0.413 2 4 --- --- --- --- RP11-593F5.2 0 broad.mit.edu 37 4 61621523 61621524 + RNA INS - - C rs35500000 by1000genomes TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr4:61621523_61621524insC ENST00000509559.1 + 0 280 aggagacttttcccgctacagc 0.460 2 4 --- --- --- --- LOC101929468 101929468 broad.mit.edu 37 4 105460997 105460998 + RNA INS - - T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr4:105460997_105460998insT ENST00000500179.1 + 0 96 CAATCGTTCTCTTttttttttt 0.332 3 4 --- --- --- --- SEC24B-AS1 100533182 broad.mit.edu 37 4 110284711 110284714 + RNA DEL TGTG TGTG - rs56943302 TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr4:110284711_110284714delTGTG ENST00000499713.2 - 0 723 SEC24B-AS1_ENST00000505895.1_RNA tgtgtgtgtttgtgtgtgtgtgtg 0.431 2 4 --- --- --- --- RP11-269F21.1 0 broad.mit.edu 37 4 112730172 112730172 + RNA DEL C C - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr4:112730172delC ENST00000506068.1 + 0 83 RP11-269F21.2_ENST00000508010.1_lincRNA GACTGTTGGGCCACCAATTTC 0.463 2 4 --- --- --- --- RP11-125O18.1 0 broad.mit.edu 37 4 128249359 128249359 + RNA DEL T T - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr4:128249359delT ENST00000504050.1 - 0 368 CTGGAAATTATTAAAGTCAAA 0.333 2 4 --- --- --- --- RP11-422J15.1 0 broad.mit.edu 37 4 130705597 130705598 + RNA INS - - C TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr4:130705597_130705598insC ENST00000513875.1 + 0 119 gattacaggtgccccccaccac 0.530 4 3 --- --- --- --- RP13-578N3.3 0 broad.mit.edu 37 4 144708324 144708324 + RNA DEL T T - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr4:144708324delT ENST00000499587.2 + 0 178 caggtattcctttatagtaat 0.398 2 4 --- --- --- --- RP11-789C1.2 0 broad.mit.edu 37 4 171292949 171292949 + RNA DEL C C - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr4:171292949delC ENST00000509548.2 + 0 127 AAAAAGTCTTCCCCTCTATGC 0.448 2 4 --- --- --- --- RP11-326I11.4 0 broad.mit.edu 37 4 185428750 185428750 + RNA DEL G G - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr4:185428750delG ENST00000605270.1 - 0 142 ttgggaggccgaggcgagcaa 0.512 2 4 --- --- --- --- LINC01511 100506791 broad.mit.edu 37 5 1374222 1374223 + RNA INS - - A rs70957362 by1000genomes TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr5:1374222_1374223insA ENST00000504989.1 - 0 506 cccatctctacaaaaaaaaaac 0.480 2 4 --- --- --- --- LINC01019 285577 broad.mit.edu 37 5 3488771 3488772 + RNA INS - - CTCC rs141227539 by1000genomes TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr5:3488771_3488772insCTCC ENST00000505443.1 - 0 459 NR_033898.1 tctgtctctctctgtctctctc 0.540 5 3 --- --- --- --- FLJ33360 401172 broad.mit.edu 37 5 6321644 6321644 + RNA DEL G G - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr5:6321644delG ENST00000507444.1 - 0 143 NR_028351.1 GGGGGAAGGTGGAGGAAAGGC 0.443 2 4 --- --- --- --- RP11-122F24.1 0 broad.mit.edu 37 5 7161637 7161638 + RNA INS - - TTTT rs149635813 by1000genomes TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr5:7161637_7161638insTTTT ENST00000512838.1 + 0 426 attcctttgcgtttctctaatc 0.332 3 3 --- --- --- --- LOC401177 401177 broad.mit.edu 37 5 17386745 17386745 + RNA DEL G G - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr5:17386745delG ENST00000505158.1 - 0 109 NR_033975.1 ctagcacattggggaggccaa 0.483 2 4 --- --- --- --- GUSBP1 728411 broad.mit.edu 37 5 21534245 21534246 + RNA INS - - TG rs143137704 TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr5:21534245_21534246insTG ENST00000607545.1 + 0 314 NR_027026.1 GCAGGTGTGTCTGTCACAAACA 0.520 4 7 --- --- --- --- GUSBP1 728411 broad.mit.edu 37 5 21553184 21553184 + RNA DEL A A - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr5:21553184delA ENST00000607545.1 + 0 314 NR_027026.1 attcacagatatttttctgaa 0.269 5 4 --- --- --- --- CTD-2134P3.1 0 broad.mit.edu 37 5 28807520 28807520 + RNA DEL A A - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr5:28807520delA ENST00000504398.1 - 0 294 ACTCACAGTgaaaaatagtag 0.378 2 4 --- --- --- --- CDH6 1004 broad.mit.edu 37 5 31323011 31323011 + Frame_Shift_Del DEL G G - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr5:31323011delG ENST00000265071.2 + 12 2234 c.1969delG c.(1969-1971)tcfs p.V657fs NM_004932.3 NP_004923.1 P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 657 adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 AGATAACATTGTCAGTTACAA 0.478 8 84 --- --- --- --- CTD-2194L12.3 0 broad.mit.edu 37 5 37940476 37940477 + RNA DEL TG TG - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr5:37940476_37940477delTG ENST00000510938.1 - 0 137 gcagcctgtctgtttcatagag 0.475 2 4 --- --- --- --- CTC-436P18.1 101928630 broad.mit.edu 37 5 60514999 60514999 + RNA DEL T T - rs79478841 TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr5:60514999delT ENST00000506902.1 + 0 668 CAGGTATTTGTTTTTTACAAT 0.353 2 4 --- --- --- --- CTC-340D7.1 0 broad.mit.edu 37 5 68145719 68145719 + RNA DEL A A - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr5:68145719delA ENST00000503268.1 - 0 377 p.0?(1) TATTCTAATTAAAGCTTACAA 0.289 2 4 --- --- --- --- CTD-2292M14.1 0 broad.mit.edu 37 5 73384561 73384561 + RNA DEL T T - rs60257286 TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr5:73384561delT ENST00000511395.1 - 0 477 TTGTCTCTGATTTTTTTTTTT 0.368 4 3 --- --- --- --- CTD-2503O16.4 0 broad.mit.edu 37 5 74236417 74236417 + RNA DEL G G - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr5:74236417delG ENST00000505200.1 - 0 335 ggctgggagcggggtggatga 0.413 2 4 --- --- --- --- TMEM161B-AS1 100505894 broad.mit.edu 37 5 87689215 87689215 + RNA DEL T T - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr5:87689215delT ENST00000501715.2 + 0 577 TMEM161B-AS1_ENST00000508015.1_RNA|TMEM161B-AS1_ENST00000510087.1_RNA|TMEM161B-AS1_ENST00000504922.1_RNA|TMEM161B-AS1_ENST00000501869.2_RNA GGGTTTTTCCTTTTTTTTCTT 0.348 3 4 --- --- --- --- RP11-254I22.1 0 broad.mit.edu 37 5 95387652 95387653 + RNA INS - - T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr5:95387652_95387653insT ENST00000507997.1 + 0 87 CTD-2337A12.1_ENST00000502645.2_RNA|CTD-2337A12.1_ENST00000511775.1_RNA gtacaataccatttttttaaca 0.361 2 4 --- --- --- --- CTB-118N6.2 0 broad.mit.edu 37 5 115914944 115914945 + RNA INS - - T rs139143216 by1000genomes TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr5:115914944_115914945insT ENST00000508766.1 + 0 58 gctcctctatctttggtcaaca 0.406 4 2 --- --- --- --- LOC101927460 101927460 broad.mit.edu 37 5 124861743 124861745 + RNA DEL AAC AAC - rs74687096 TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr5:124861743_124861745delAAC ENST00000564199.1 + 0 324 tatcactgaaaacaaaatcaaaa 0.281 5 2 --- --- --- --- CTD-2050E21.1 0 broad.mit.edu 37 5 142884289 142884291 + RNA DEL ATC ATC - rs10611481 by1000genomes TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr5:142884289_142884291delATC ENST00000340585.6 - 0 437 gccttctcttatcatcatatatc 0.320 2 4 --- --- --- --- LOC101927115 101927115 broad.mit.edu 37 5 151349480 151349480 + RNA DEL G G - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr5:151349480delG ENST00000524295.1 + 0 199 GGTTGCTCAAGGAGGACTACA 0.398 2 4 --- --- --- --- RP11-32D16.1 0 broad.mit.edu 37 5 157921609 157921609 + RNA DEL T T - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr5:157921609delT ENST00000522704.1 + 0 185 actctgtaaattttttttgga 0.408 2 4 --- --- --- --- CTB-11I22.1 0 broad.mit.edu 37 5 158644321 158644322 + RNA INS - - C rs143588247 by1000genomes TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr5:158644321_158644322insC ENST00000521204.1 + 0 191 agagtctctgaccccaagacct 0.450 3 6 --- --- --- --- LOC101927766 101927766 broad.mit.edu 37 5 159240961 159240962 + RNA INS - - ATCAGTCAAC TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr5:159240961_159240962insATCAGTCAAC ENST00000522627.1 - 0 3691 caccaccccttatcagtcaaca 0.416 2 4 --- --- --- --- RP11-779O18.3 0 broad.mit.edu 37 5 172190808 172190808 + RNA DEL T T - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr5:172190808delT ENST00000523005.1 + 0 69 AAAGTGTCTATTTCCTTCCCA 0.537 2 4 --- --- --- --- RP11-536N17.1 0 broad.mit.edu 37 5 172244749 172244749 + RNA DEL A A - rs35920486 TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr5:172244749delA ENST00000518260.1 + 0 105 actctgcctcaaaaaaaaaaa 0.468 3 3 --- --- --- --- LINC01411 101928176 broad.mit.edu 37 5 173820984 173820984 + RNA DEL A A - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr5:173820984delA ENST00000510234.1 + 0 82 GATTTTAGGGAAAAAAAAGTG 0.507 2 4 --- --- --- --- SSR1 6745 broad.mit.edu 37 6 7290123 7290128 + In_Frame_Del DEL TCTGTG TCTGTG - rs138203075 TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr6:7290123_7290128delTCTGTG ENST00000244763.4 - 8 916_921 c.830_835delCACAGA c.(829-837)gag>g p.AQK277del SSR1_ENST00000397511.2_In_Frame_Del_p.AQK282del|SSR1_ENST00000489567.1_In_Frame_Del_p.AQK209del|RP11-69L16.4_ENST00000379928.4_RNA|SSR1_ENST00000474597.1_In_Frame_Del_p.AQK282del|SSR1_ENST00000534851.1_In_Frame_Del_p.AQK250del|SSR1_ENST00000479365.1_3'UTR NM_003144.3 NP_003135.2 P43307 SSRA_HUMAN signal sequence receptor, alpha 277 cotranslational protein targeting to membrane|positive regulation of cell proliferation endoplasmic reticulum membrane|integral to membrane signal sequence binding NS(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(1) 9 Ovarian(93;0.0398) ACTGATCTCTTCTGTGCCCGTTTCCT 0.388 8 97 --- --- --- --- HCP5 10866 broad.mit.edu 37 6 31409184 31409185 + RNA INS - - ACA rs67294203 TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr6:31409184_31409185insACA ENST00000414046.2 + 0 62 NR_040662.1 Q6MZN7 HCP5_HUMAN defense response urinary_tract(1) 1 CTTTCAAAAGCGCCAGAGACAT 0.426 3 3 --- --- --- --- UFL1-AS1 100861530 broad.mit.edu 37 6 96866458 96866459 + RNA INS - - A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr6:96866458_96866459insA ENST00000430796.1 - 0 110 accttcttaatatctctccaat 0.416 2 4 --- --- --- --- RP11-624M8.1 0 broad.mit.edu 37 6 125993732 125993733 + RNA INS - - T rs147916102 TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr6:125993732_125993733insT ENST00000451660.2 - 0 443 RP11-624M8.1_ENST00000427852.2_RNA|RP11-624M8.1_ENST00000606334.1_RNA gatactaagccttttttttttt 0.421 2 4 --- --- --- --- LOC100507477 100507477 broad.mit.edu 37 6 140403358 140403358 + RNA DEL T T - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr6:140403358delT ENST00000456896.1 + 0 446 GCAGTCTTTGTTTATCAGGAT 0.343 2 4 --- --- --- --- RP1-292B18.4 0 broad.mit.edu 37 6 151464020 151464021 + RNA INS - - G TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr6:151464020_151464021insG ENST00000415477.1 - 0 316 AGGTAGGAGGAGGGGGGCATAG 0.554 2 4 --- --- --- --- AC004538.3 0 broad.mit.edu 37 7 11288021 11288022 + RNA DEL TG TG - rs35195239 TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr7:11288021_11288022delTG ENST00000599875.1 + 0 186 AC004538.3_ENST00000441110.1_RNA|AC004538.3_ENST00000428967.1_RNA TACTGATCTCtgtgtgtgtgtg 0.426 3 3 --- --- --- --- AC007255.8 0 broad.mit.edu 37 7 29587956 29587956 + RNA DEL T T - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr7:29587956delT ENST00000447171.1 - 0 340 CACATATGACTTAACATTATT 0.284 2 4 --- --- --- --- AC023669.1 0 broad.mit.edu 37 7 46306171 46306171 + RNA DEL A A - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr7:46306171delA ENST00000414915.1 + 0 226 tttgagatggagacacactct 0.473 2 4 --- --- --- --- LINC01446 401337 broad.mit.edu 37 7 53736001 53736002 + RNA INS - - T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr7:53736001_53736002insT ENST00000380970.2 - 0 1544 NR_038371.1 tgcctttccagttttttgatag 0.297 3 3 --- --- --- --- RP13-492C18.2 0 broad.mit.edu 37 7 56504976 56504977 + RNA DEL AG AG - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr7:56504976_56504977delAG ENST00000443198.1 - 0 157 agctcagcacagagagagagag 0.485 2 4 --- --- --- --- GS1-124K5.11 0 broad.mit.edu 37 7 65997351 65997352 + RNA INS - - T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr7:65997351_65997352insT ENST00000449307.2 - 0 1308 GGGGTCGGGCAttttttttttt 0.480 3 3 --- --- --- --- AC003988.1 0 broad.mit.edu 37 7 79896304 79896304 + RNA DEL C C - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr7:79896304delC ENST00000447198.2 - 0 202 TTAGAATCAGCCATGTAACAG 0.328 3 3 --- --- --- --- RP11-736E3.1 0 broad.mit.edu 37 7 112776433 112776434 + RNA DEL TG TG - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr7:112776433_112776434delTG ENST00000441928.1 + 0 273 tgtgtgtgtatgtgtgtgtgtg 0.337 3 3 --- --- --- --- RP11-458K10.1 0 broad.mit.edu 37 7 115315931 115315931 + RNA DEL G G - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr7:115315931delG ENST00000471672.1 - 0 210 TCTTCGGTTTGCACACTATTA 0.348 2 4 --- --- --- --- RP11-328J2.1 0 broad.mit.edu 37 7 119510186 119510187 + RNA INS - - T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr7:119510186_119510187insT ENST00000426413.1 - 0 83 tttgtagtttgttttttttttc 0.356 2 4 --- --- --- --- RP5-921G16.1 0 broad.mit.edu 37 7 123779023 123779024 + RNA INS - - G TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr7:123779023_123779024insG ENST00000484322.1 + 0 168 taagttttttttcttttgtttc 0.356 2 4 --- --- --- --- AC009784.3 0 broad.mit.edu 37 7 136049862 136049862 + RNA DEL T T - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr7:136049862delT ENST00000445293.2 + 0 730 ctgatagaaatttaccttaga 0.284 2 4 --- --- --- --- ERICH1-AS1 619343 broad.mit.edu 37 8 1058438 1058441 + RNA DEL GTGA GTGA - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr8:1058438_1058441delGTGA ENST00000522092.1 + 0 332 NR_073397.1|NR_073466.1 GCTGTGAGATGTGAGTGAGTGCAC 0.525 2 4 --- --- --- --- FAM85B 619431 broad.mit.edu 37 8 8026018 8026019 + RNA INS - - A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr8:8026018_8026019insA ENST00000519726.2 - 0 527 aaaaaaaaaagaaaaaaaaaaa 0.446 3 5 --- --- --- --- RP11-624C23.1 0 broad.mit.edu 37 8 24563209 24563209 + RNA DEL A A - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr8:24563209delA ENST00000519689.1 - 0 184 cagaaggttgaggatatagta 0.443 2 4 --- --- --- --- RP11-94H18.2 0 broad.mit.edu 37 8 29728255 29728256 + RNA INS - - G TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr8:29728255_29728256insG ENST00000522967.1 + 0 55 TGGAGAAGTCTGGGGGTGAGTC 0.465 3 3 --- --- --- --- RP1-84O15.2 0 broad.mit.edu 37 8 34099820 34099821 + RNA DEL GA GA - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr8:34099820_34099821delGA ENST00000522460.1 + 0 202 RP11-431M3.2_ENST00000518178.1_lincRNA aggagaggaggagagagagaAT 0.450 5 8 --- --- --- --- LINC01288 103689844 broad.mit.edu 37 8 34678143 34678143 + RNA DEL A A - rs112822002 TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr8:34678143delA ENST00000519189.1 + 0 387 TAACCTGCTGAAAAAAAAAAG 0.343 2 4 --- --- --- --- RP11-90P5.2 0 broad.mit.edu 37 8 38013175 38013175 + RNA DEL T T - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr8:38013175delT ENST00000520598.1 + 0 99 cttgttttacttttttttttt 0.398 2 4 --- --- --- --- RP11-120I21.2 0 broad.mit.edu 37 8 84882876 84882878 + RNA DEL ACC ACC - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr8:84882876_84882878delACC ENST00000523678.1 + 0 123 caccaccacgaccaccaccacca 0.429 2 4 --- --- --- --- LINC00535 642924 broad.mit.edu 37 8 94615039 94615039 + RNA DEL A A - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr8:94615039delA ENST00000501400.1 - 0 948 NR_033858.1 AAGACATTCCAAAAAAAGGAA 0.378 2 4 --- --- --- --- C8orf37-AS1 100616530 broad.mit.edu 37 8 96338845 96338846 + RNA DEL AA AA - rs71273484 TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr8:96338845_96338846delAA ENST00000521905.1 + 0 126 actctatctcaaaaaaaaaaaa 0.460 3 4 --- --- --- --- RP11-369K17.1 0 broad.mit.edu 37 8 122071081 122071087 + RNA DEL AATAGAA AATAGAA - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr8:122071081_122071087delAATAGAA ENST00000517739.1 + 0 188 ACTATTCAACAATAGAAAATGAACTAC 0.353 4 2 --- --- --- --- RP11-89K10.1 0 broad.mit.edu 37 8 127682310 127682313 + RNA DEL TGTG TGTG - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr8:127682310_127682313delTGTG ENST00000519880.1 + 0 156 RP11-89K10.1_ENST00000520512.1_RNA TGATTTATGAtgtgtgtgtgtgtg 0.392 3 3 --- --- --- --- RP11-351C8.1 0 broad.mit.edu 37 8 127800288 127800288 + RNA DEL T T - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr8:127800288delT ENST00000520224.1 - 0 70 tttttaaggcttttttgcata 0.303 2 4 --- --- --- --- CCDC26 137196 broad.mit.edu 37 8 130655978 130655978 + RNA DEL T T - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr8:130655978delT ENST00000446592.3 - 0 312 AAATCATACATGGAGCAACAG 0.393 7 2 --- --- --- --- UBE2R2-AS1 101929665 broad.mit.edu 37 9 33802685 33802686 + RNA INS - - A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr9:33802685_33802686insA ENST00000454429.2 - 0 169 GGTAAAGTGGTATGATCTTCCA 0.455 2 4 --- --- --- --- ATP8B5P 158381 broad.mit.edu 37 9 35409801 35409801 + RNA DEL A A - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr9:35409801delA ENST00000430846.1 + 0 150 actctatcttaaaaaaaaaaa 0.428 2 4 --- --- --- --- RP11-764K9.1 0 broad.mit.edu 37 9 68406040 68406050 + RNA DEL CCAAGGCAATC CCAAGGCAATC - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr9:68406040_68406050delCCAAGGCAATC ENST00000417843.2 - 0 224 acctaagtagccaaggcaatcctaagcaaaa 0.365 2 4 --- --- --- --- LOC101927502 101927502 broad.mit.edu 37 9 84387836 84387837 + RNA DEL AG AG - rs36083315 TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr9:84387836_84387837delAG ENST00000437181.1 + 0 486 ttttaataaaagagttatttaa 0.520 3 3 --- --- --- --- AKR1C7P 648947 broad.mit.edu 37 10 5321280 5321281 + RNA INS - - A rs112001915 TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr10:5321280_5321281insA ENST00000432689.2 - 0 399 gactcagtctcaaaaaaaaaaa 0.411 2 4 --- --- --- --- RP11-476F14.1 0 broad.mit.edu 37 10 33871867 33871868 + RNA INS - - T rs145607514 TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr10:33871867_33871868insT ENST00000457848.1 - 0 423 tcctcttcttgttttttttttt 0.396 4 4 --- --- --- --- RP11-733D4.1 0 broad.mit.edu 37 10 45091949 45091949 + RNA DEL A A - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr10:45091949delA ENST00000456722.1 - 0 155 aatggaaagcaaaaaaaaaag 0.363 2 4 --- --- --- --- RP11-170M17.1 0 broad.mit.edu 37 10 65696714 65696714 + RNA DEL T T - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr10:65696714delT ENST00000444770.1 + 0 494 TTTGGCAttcttttttttttt 0.403 3 4 --- --- --- --- ZNF503 84858 broad.mit.edu 37 10 77052653 77052653 + RNA DEL T T - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr10:77052653delT ENST00000418818.2 - 0 142 GGCTTTGGTATTTTTTTCTTC 0.493 2 4 --- --- --- --- LOC101926942 101926942 broad.mit.edu 37 10 92212774 92212774 + RNA DEL A A - rs35584710 TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr10:92212774delA ENST00000418379.1 - 0 240 ggtcttgaacacctaacctca 0.468 3 3 --- --- --- --- WDR11-AS1 283089 broad.mit.edu 37 10 122573820 122573821 + RNA INS - - T rs140361614 by1000genomes TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr10:122573820_122573821insT ENST00000598981.1 - 0 228 NR_033850.1 tttgtgacttgtacttttccta 0.297 4 4 --- --- --- --- LOC101927708 101927708 broad.mit.edu 37 11 3593305 3593305 + RNA DEL C C - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr11:3593305delC ENST00000527970.1 - 0 285 TGTCCTGACTCtttttttttt 0.517 2 4 --- --- --- --- LINC01495 102723378 broad.mit.edu 37 11 22474042 22474042 + RNA DEL A A - rs34022961 TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr11:22474042delA ENST00000532380.1 - 0 341 actcagtcttaaaaaaaaaaa 0.463 3 3 --- --- --- --- RP11-960D24.1 0 broad.mit.edu 37 11 28701786 28701786 + RNA DEL A A - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr11:28701786delA ENST00000505409.1 + 0 218 atggatcctgagaatttgcat 0.418 2 4 --- --- --- --- RP11-115J23.1 0 broad.mit.edu 37 11 28763434 28763434 + RNA DEL A A - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr11:28763434delA ENST00000513853.1 + 0 283 TTTATTGGTGAAAAAAAACTA 0.333 2 4 --- --- --- --- RP11-460B17.3 0 broad.mit.edu 37 11 29465753 29465753 + RNA DEL T T - rs80244501 TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr11:29465753delT ENST00000525097.1 - 0 153 ctaaatcagcttttttttttt 0.388 2 4 --- --- --- --- CTD-3138F19.1 0 broad.mit.edu 37 11 29801857 29801857 + RNA DEL A A - rs111319134 TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr11:29801857delA ENST00000530249.1 + 0 232 ctgtctctggaaaaaaaaaaa 0.463 2 4 --- --- --- --- WT1-AS 51352 broad.mit.edu 37 11 32470689 32470690 + RNA INS - - G rs150390918 TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr11:32470689_32470690insG ENST00000525436.1 + 0 46 endometrium(1)|large_intestine(2)|lung(2)|prostate(1) 6 CAGATGGCTCTGGGGGGGTGAC 0.366 3 3 --- --- --- --- RP11-148I19.1 0 broad.mit.edu 37 11 42117710 42117710 + RNA DEL T T - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr11:42117710delT ENST00000534059.1 - 0 220 gatctgatgatttgatcaggg 0.463 2 4 --- --- --- --- RP11-703H8.9 0 broad.mit.edu 37 11 62023170 62023171 + RNA INS - - A rs2463819 TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr11:62023170_62023171insA ENST00000529875.1 - 0 52 actctgcctccaaaaaaaaaaa 0.465 2 4 --- --- --- --- DISC1FP1 101929222 broad.mit.edu 37 11 90525126 90525127 + RNA INS - - T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr11:90525126_90525127insT ENST00000562678.1 + 0 185 TAGTTCATCACTTTTTTAATGC 0.322 2 4 --- --- --- --- RP11-867G2.8 0 broad.mit.edu 37 11 94386996 94386997 + RNA INS - - C rs67140476 by1000genomes TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr11:94386996_94386997insC ENST00000536540.1 - 0 437 RP11-867G2.8_ENST00000537874.1_RNA ctggccccgagccccccagtac 0.520 2 4 --- --- --- --- USP2-AS1 100499227 broad.mit.edu 37 11 119339824 119339825 + RNA INS - - T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr11:119339824_119339825insT ENST00000498979.2 + 0 273 USP2-AS1_ENST00000530002.1_RNA|USP2-AS1_ENST00000500970.1_RNA|USP2-AS1_ENST00000578923.1_RNA NR_034160.1 ttgtctttttctttttttctga 0.495 2 4 --- --- --- --- AP002856.5 0 broad.mit.edu 37 11 131190350 131190351 + RNA INS - - T rs72009859 TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr11:131190350_131190351insT ENST00000606885.1 + 0 146 AGTGAGTGttcttttttttttt 0.465 4 2 --- --- --- --- RP11-114G22.1 0 broad.mit.edu 37 12 23184465 23184465 + RNA DEL T T - rs12581962 TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr12:23184465delT ENST00000540895.1 + 0 508 TTCTCGTGGGttttttttttt 0.413 2 4 --- --- --- --- LOC101928441 101928441 broad.mit.edu 37 12 23259485 23259486 + RNA INS - - A rs146462556 by1000genomes TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr12:23259485_23259486insA ENST00000540895.1 + 0 1185 aaacagaaaacaaaaaaaaaCC 0.391 2 4 --- --- --- --- RP11-415I12.3 0 broad.mit.edu 37 12 64103656 64103656 + RNA DEL A A - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr12:64103656delA ENST00000509615.2 - 0 238 RP11-415I12.2_ENST00000541353.1_RNA agcatgtgacaaagggagaat 0.289 2 4 --- --- --- --- IFNG-AS1 100885789 broad.mit.edu 37 12 68495702 68495703 + RNA INS - - C TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr12:68495702_68495703insC ENST00000536914.1 + 0 336 aacaacaccttccccccaacac 0.441 2 4 --- --- --- --- RP11-114H23.1 0 broad.mit.edu 37 12 76082490 76082491 + RNA INS - - T rs141632958 TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr12:76082490_76082491insT ENST00000552856.1 - 0 401 cattctTTTTCTTTTTTTTTTT 0.361 4 5 --- --- --- --- RP11-114H23.1 0 broad.mit.edu 37 12 76332281 76332282 + RNA DEL AC AC - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr12:76332281_76332282delAC ENST00000552856.1 - 0 295 GTGTacacatacacacacacac 0.396 2 4 --- --- --- --- RP11-13A1.3 0 broad.mit.edu 37 12 89504691 89504691 + RNA DEL A A - rs72395915 TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr12:89504691delA ENST00000549278.1 - 0 282 aacctgtctcaaaaaaaaaaa 0.473 2 4 --- --- --- --- RP11-13A1.3 0 broad.mit.edu 37 12 89507237 89507238 + RNA INS - - A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr12:89507237_89507238insA ENST00000549278.1 - 0 282 taaaaatgggcaaatgacctga 0.312 2 4 --- --- --- --- PLXNC1 10154 broad.mit.edu 37 12 94543029 94543030 + Frame_Shift_Ins INS - - C TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr12:94543029_94543030insC ENST00000258526.4 + 1 531_532 c.282_283insC c.(280-285)gcccccfs p.AP94fs NM_005761.2 NP_005752.1 O60486 PLXC1_HUMAN plexin C1 94 Sema. axon guidance|cell adhesion integral to membrane|intracellular|plasma membrane receptor activity|receptor binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 TCTCGCTggcgccccccgcgcg 0.748 2 4 --- --- --- --- DRAM1 55332 broad.mit.edu 37 12 102317557 102317558 + RNA INS - - A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr12:102317557_102317558insA ENST00000551918.1 - 0 483_484 CTGAGAAGGCCAAAAAAATCAC 0.411 2 4 --- --- --- --- RP11-116D17.2 0 broad.mit.edu 37 12 115705597 115705597 + RNA DEL C C - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr12:115705597delC ENST00000546696.1 + 0 152 CAATTAGCAGCCCTCTGCTGC 0.577 2 4 --- --- --- --- LINC00507 100862680 broad.mit.edu 37 12 128432484 128432484 + RNA DEL A A - rs149990793 TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr12:128432484delA ENST00000540882.1 + 0 323 LINC00508_ENST00000538901.1_lincRNA TTCAAGAAGGAAAAAAAAAAA 0.378 2 4 --- --- --- --- MEDAG 84935 broad.mit.edu 37 13 31480851 31480852 + Frame_Shift_Ins INS - - G TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr13:31480851_31480852insG ENST00000380482.4 + 1 524_525 c.199_200insG c.(199-201)gggfs p.G67fs TEX26-AS1_ENST00000585870.1_RNA|TEX26-AS1_ENST00000592950.1_RNA|TEX26-AS1_ENST00000588726.1_RNA|TEX26-AS1_ENST00000590344.1_RNA|TEX26-AS1_ENST00000593246.1_RNA NM_032849.3 NP_116238.2 mesenteric estrogen-dependent adipogenesis ggcggcggcgcgggggggcTTC 0.738 3 3 --- --- --- --- SMIM2-AS1 101929212 broad.mit.edu 37 13 44759155 44759156 + RNA INS - - T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr13:44759155_44759156insT ENST00000437867.1 + 0 219 caaatactgcattttttcactc 0.396 2 4 --- --- --- --- LINC00559 100874187 broad.mit.edu 37 13 90738653 90738654 + RNA INS - - A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr13:90738653_90738654insA ENST00000569476.1 - 0 3282 NR_047489.1 ttaaaatcagtaaaaaaagaaa 0.302 3 3 --- --- --- --- LINC01049 101927224 broad.mit.edu 37 13 91175314 91175314 + RNA DEL A A - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr13:91175314delA ENST00000426840.1 + 0 272 gaagacaaggaaaaaaaaaca 0.353 2 4 --- --- --- --- LOC101929735 101929735 broad.mit.edu 37 14 22874726 22874727 + RNA INS - - A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr14:22874726_22874727insA ENST00000514473.2 - 0 225 AE000661.37_ENST00000541008.1_RNA|AE000661.37_ENST00000545670.1_RNA|AE000661.37_ENST00000535351.1_RNA AAAATTAAAGTAAAAAACCTGG 0.396 2 4 --- --- --- --- LOC101927081 101927081 broad.mit.edu 37 14 27369850 27369850 + RNA DEL G G - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr14:27369850delG ENST00000548170.1 + 0 435 RP11-384J4.2_ENST00000552303.1_lincRNA gataacagctggggtggggtg 0.388 2 4 --- --- --- --- CTD-2251F13.1 0 broad.mit.edu 37 14 30675625 30675627 + RNA DEL AAA AAA - rs111314627 TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr14:30675625_30675627delAAA ENST00000508469.2 - 0 69 agattctgtcaaaaaaaaaaaaa 0.424 5 2 --- --- --- --- LINC00639 283547 broad.mit.edu 37 14 39329922 39329923 + RNA INS - - T rs34965690 TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr14:39329922_39329923insT ENST00000553932.1 - 0 154 ctctttctctcttttttttttt 0.337 2 4 --- --- --- --- CTD-2307P3.1 0 broad.mit.edu 37 14 43012461 43012461 + RNA DEL T T - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr14:43012461delT ENST00000557251.1 + 0 166 aatagtaggatttttttttct 0.338 2 4 --- --- --- --- SYNJ2BP-COX16 100529257 broad.mit.edu 37 14 70835850 70835860 + RNA DEL TTGAGACAAGG TTGAGACAAGG - rs79998120 TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr14:70835850_70835860delTTGAGACAAGG ENST00000555276.1 - 0 85 ttttttgtttttgagacaaggtctcactccg 0.460 3 4 --- --- --- --- RP11-187O7.3 0 broad.mit.edu 37 14 76984861 76984864 + RNA DEL ATGA ATGA - rs28418839 TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr14:76984861_76984864delATGA ENST00000554926.1 - 0 310 gaaaggagggatgaaggaaggaag 0.559 2 4 --- --- --- --- HERC2P3 283755 broad.mit.edu 37 15 20607082 20607082 + RNA DEL A A - rs60421100 TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr15:20607082delA ENST00000428453.1 - 0 4041 central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 GTCAGCATTTAAAAAAAAAAA 0.328 2 4 --- --- --- --- LOC101928134 101928134 broad.mit.edu 37 15 33600971 33600972 + RNA DEL CA CA - rs5811751 TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr15:33600971_33600972delCA ENST00000561458.1 - 0 97 RP11-489D6.2_ENST00000559457.1_RNA cacacccacccacacacacaca 0.446 3 3 --- --- --- --- RP11-323I15.5 0 broad.mit.edu 37 15 35424465 35424465 + RNA DEL A A - rs35291338 TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr15:35424465delA ENST00000559246.1 - 0 74 tgtgggagctaaaaaaaaaaa 0.388 3 3 --- --- --- --- RP11-108K3.1 0 broad.mit.edu 37 15 51401929 51401929 + RNA DEL A A - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr15:51401929delA ENST00000559909.1 + 0 194 TCACTGAATCAAAAGGAATTT 0.473 2 4 --- --- --- --- RP11-382A20.4 0 broad.mit.edu 37 15 83924079 83924079 + RNA DEL T T - rs147181020 TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr15:83924079delT ENST00000565495.1 + 0 264 ttttaatcacttttttttttt 0.408 2 4 --- --- --- --- RP11-648K4.2 0 broad.mit.edu 37 15 88141936 88141936 + RNA DEL T T - rs115449484 by1000genomes TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr15:88141936delT ENST00000560439.1 - 0 80 gataagattctttttttttgg 0.308 2 4 --- --- --- --- RP11-152L20.3 0 broad.mit.edu 37 15 92808642 92808642 + RNA DEL A A - rs11320265 TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr15:92808642delA ENST00000561674.1 - 0 185 gatctgagttaaaaaaaatac 0.249 2 4 --- --- --- --- RP11-266O8.1 0 broad.mit.edu 37 15 93909456 93909457 + RNA DEL GA GA - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr15:93909456_93909457delGA ENST00000543286.1 + 0 545 gagtgaaagggagagagagaga 0.406 2 4 --- --- --- --- CTD-2544M6.1 0 broad.mit.edu 37 15 98593381 98593383 + RNA DEL TTC TTC - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr15:98593381_98593383delTTC ENST00000560360.1 - 0 291 AGCTTCACTATTCTTCTTTTCCA 0.266 4 2 --- --- --- --- RP11-10K17.6 0 broad.mit.edu 37 16 5174693 5174693 + RNA DEL T T - rs35165345 TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr16:5174693delT ENST00000589323.1 + 0 247 CCAATCCCTCTTTTTTTTTTT 0.428 2 4 --- --- --- --- RP11-420N3.2 0 broad.mit.edu 37 16 5624582 5624582 + RNA DEL T T - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr16:5624582delT ENST00000569895.1 + 0 343 cgcccagcaattttttgtttg 0.517 4 2 --- --- --- --- CTA-481E9.4 0 broad.mit.edu 37 16 18061962 18061962 + RNA DEL A A - rs72396467 TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr16:18061962delA ENST00000567304.1 - 0 251 GCAATCTTTTAAAAAAAAAAA 0.403 2 4 --- --- --- --- RP11-42I10.1 0 broad.mit.edu 37 16 48672090 48672091 + RNA INS - - T TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr16:48672090_48672091insT ENST00000564212.1 + 0 157 CTC-527H23.3_ENST00000561876.1_lincRNA CTCtttttttcttttttttctt 0.401 3 3 --- --- --- --- RP11-42I10.1 0 broad.mit.edu 37 16 48679737 48679740 + RNA DEL TTGT TTGT - rs140531874 TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr16:48679737_48679740delTTGT ENST00000564212.1 + 0 157 gtttttcttcttgtttgtttgttt 0.377 5 3 --- --- --- --- CRNDE 643911 broad.mit.edu 37 16 54960661 54960662 + RNA DEL AA AA - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr16:54960661_54960662delAA ENST00000560208.1 - 0 380 AAATAAAAACAAGGCATTCCGT 0.292 2 4 --- --- --- --- LOC101927580 101927580 broad.mit.edu 37 16 59925049 59925049 + RNA DEL T T - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr16:59925049delT ENST00000568279.1 + 0 173 tgctttatagttttagtgtac 0.229 2 4 --- --- --- --- RP11-96H17.1 0 broad.mit.edu 37 16 63101541 63101542 + RNA INS - - C TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr16:63101541_63101542insC ENST00000563003.1 - 0 585 CTGTCTCCATTCCCCCCGTCAA 0.342 2 4 --- --- --- --- LOC101927650 101927650 broad.mit.edu 37 16 65185106 65185106 + RNA DEL T T - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr16:65185106delT ENST00000563754.1 - 0 406 tttttttgtatttttttcctt 0.348 2 4 --- --- --- --- LINC01572 101927957 broad.mit.edu 37 16 72554333 72554333 + RNA DEL T T - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr16:72554333delT ENST00000561611.2 - 0 113 ataatgatccttttttttttc 0.378 3 5 --- --- --- --- RP11-697E22.2 0 broad.mit.edu 37 17 36030090 36030091 + RNA INS - - A rs67804791 by1000genomes TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr17:36030090_36030091insA ENST00000586163.1 + 0 590 RP11-697E22.2_ENST00000586950.1_RNA tatttattatttttttttgaga 0.495 4 2 --- --- --- --- MAP3K14 9020 broad.mit.edu 37 17 43368663 43368664 + RNA DEL TG TG - rs71970628 TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr17:43368663_43368664delTG ENST00000344686.2 - 0 89 Q99558 M3K14_HUMAN mitogen-activated protein kinase kinase kinase 14 cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation cytosol ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 27 GGTAGATATCtgtgtgtgtgtg 0.490 3 4 --- --- --- --- LOC101927274 101927274 broad.mit.edu 37 17 49405087 49405087 + RNA DEL A A - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr17:49405087delA ENST00000514726.1 - 0 1356 gacgaatggcaaactagaata 0.393 2 4 --- --- --- --- RP11-60A24.3 0 broad.mit.edu 37 17 55872958 55872958 + RNA DEL A A - rs113224879 TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr17:55872958delA ENST00000580960.1 - 0 254 caattgttttatgtgtgaaca 0.358 3 5 --- --- --- --- LINC01483 101928122 broad.mit.edu 37 17 67623880 67623880 + RNA DEL A A - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr17:67623880delA ENST00000433856.1 + 0 2473 acaactcaggaaaaaaataaa 0.363 2 4 --- --- --- --- CASC17 101928165 broad.mit.edu 37 17 69099195 69099195 + RNA DEL A A - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr17:69099195delA ENST00000569074.1 - 0 215 CAGTGGGAGTAAAAAAAGTGG 0.348 2 4 --- --- --- --- RP11-78F17.1 0 broad.mit.edu 37 18 1057993 1057993 + RNA DEL T T - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr18:1057993delT ENST00000580781.1 + 0 306 aatttgcccatttttttccag 0.333 2 4 --- --- --- --- RP11-92G19.2 0 broad.mit.edu 37 18 5083118 5083118 + RNA DEL G G - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr18:5083118delG ENST00000583985.1 + 0 59 actttgccctggggactggcc 0.458 2 4 --- --- --- --- LINC00907 284260 broad.mit.edu 37 18 39998578 39998579 + RNA INS - - G rs72539923 by1000genomes TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr18:39998578_39998579insG ENST00000593234.1 + 0 713 NR_046456.1 ATAAGCAACGTGCTTACAGAAG 0.317 2 4 --- --- --- --- LOC400685 400685 broad.mit.edu 37 19 35315125 35315126 + RNA INS - - C rs149615237 by1000genomes TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr19:35315125_35315126insC ENST00000590963.1 - 0 563 NR_033982.1 ccagaaatagaccatacaaata 0.351 2 4 --- --- --- --- CTC-246B18.8 0 broad.mit.edu 37 19 39810073 39810074 + RNA INS - - CA rs112133589 by1000genomes TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr19:39810073_39810074insCA ENST00000601911.1 - 0 66 GATACATACCTcacacacacac 0.450 7 3 --- --- --- --- NSFL1C 55968 broad.mit.edu 37 20 1448429 1448429 + RNA DEL C C - rs60140956 TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr20:1448429delC ENST00000553571.1 - 0 492 cggtaaacaaccttcccgcgg 0.453 3 3 --- --- --- --- CASC20 101929244 broad.mit.edu 37 20 6462363 6462363 + RNA DEL G G - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr20:6462363delG ENST00000415932.1 + 0 218 CCTGAGATGTGGCAGGGTCAT 0.433 2 4 --- --- --- --- RP11-359G22.2 0 broad.mit.edu 37 20 22657953 22657954 + RNA DEL AC AC - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr20:22657953_22657954delAC ENST00000441568.1 - 0 1075_1076 tgggacgcagacacacacacac 0.490 2 4 --- --- --- --- MIR646HG 284757 broad.mit.edu 37 20 58750927 58750927 + RNA DEL T T - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr20:58750927delT ENST00000432910.1 + 0 253 NR_046099.1 tcttgtttcatttttagcaga 0.353 2 4 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11032777 11032777 + RNA DEL A A - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr21:11032777delA ENST00000470054.1 - 0 1476 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CTTTGATGCCAAAATTTTATC 0.214 4 9 --- --- --- --- AP001347.6 0 broad.mit.edu 37 21 15404542 15404542 + RNA DEL T T - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr21:15404542delT ENST00000428809.1 + 0 177 ctgacactgattcagagatca 0.438 2 4 --- --- --- --- MIR99AHG 388815 broad.mit.edu 37 21 17729811 17729812 + RNA INS - - G TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr21:17729811_17729812insG ENST00000458468.1 + 0 469 NR_027790.1 CTCAGCCGTGTGGGgtgtgtgt 0.441 2 4 --- --- --- --- MIR99AHG 388815 broad.mit.edu 37 21 17886197 17886197 + RNA DEL T T - rs112009251 TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr21:17886197delT ENST00000458468.1 + 0 518 NR_027790.1 ACTTTTGTCCttttttttttt 0.388 2 4 --- --- --- --- C21orf91-OT1 246312 broad.mit.edu 37 21 19141158 19141159 + RNA INS - - C TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr21:19141158_19141159insC ENST00000430815.1 - 0 230 ATCATTGGTCACCCCCCAAATG 0.465 2 4 --- --- --- --- LOC101927797 101927797 broad.mit.edu 37 21 20042543 20042543 + RNA DEL A A - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr21:20042543delA ENST00000437492.1 - 0 332 gcttatcttcaaaaaaataga 0.388 2 4 --- --- --- --- AP000705.7 0 broad.mit.edu 37 21 23698136 23698137 + RNA DEL AC AC - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr21:23698136_23698137delAC ENST00000444130.1 + 0 385 ACATATGCAAACACACACACAC 0.292 2 4 --- --- --- --- LOC339622 339622 broad.mit.edu 37 21 26214093 26214094 + RNA INS - - A rs115306787 by1000genomes TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr21:26214093_26214094insA ENST00000441009.1 + 0 179 NR_046198.3 gctttattattaaaaaaaaagc 0.371 2 4 --- --- --- --- AP000233.4 0 broad.mit.edu 37 21 26660594 26660596 + RNA DEL GTT GTT - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr21:26660594_26660596delGTT ENST00000409758.1 - 0 89 CGTTTCAGAAGTTGTTATCATGA 0.271 7 1 --- --- --- --- AP000233.4 0 broad.mit.edu 37 21 26661151 26661151 + RNA DEL T T - rs78912674 TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr21:26661151delT ENST00000409758.1 - 0 89 GAGTTAGTCCTTTTTTTTTTT 0.438 2 4 --- --- --- --- FTCD 10841 broad.mit.edu 37 21 47571576 47571576 + Frame_Shift_Del DEL C C - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr21:47571576delC ENST00000397748.1 - 5 575 c.532delG c.(532-534)cgfs p.A178fs FTCD_ENST00000355384.2_Frame_Shift_Del_p.A178fs|FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000291670.5_Frame_Shift_Del_p.A178fs|FTCD_ENST00000397743.1_Frame_Shift_Del_p.A178fs|FTCD_ENST00000397746.3_Frame_Shift_Del_p.A178fs|FTCD-AS1_ENST00000446649.1_RNA|FTCD_ENST00000359679.2_Frame_Shift_Del_p.A178fs O95954 FTCD_HUMAN formimidoyltransferase cyclodeaminase 178 Formiminotransferase N-subdomain (By similarity). folic acid-containing compound metabolic process|histidine catabolic process centriole|cytosol|Golgi apparatus folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3) 19 Breast(49;0.214) Colorectal(79;0.235) L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116) AACTTCCTCGCCCCCGTGGCC 0.647 2 4 --- --- --- --- CTA-292E10.6 0 broad.mit.edu 37 22 29234824 29234824 + RNA DEL T T - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr22:29234824delT ENST00000458080.1 + 0 263 CTA-292E10.6_ENST00000418292.1_RNA GTTTCTTTCCTTTTTTTTTTC 0.408 2 4 --- --- --- --- LL22NC03-86D4.1 0 broad.mit.edu 37 22 34534132 34534137 + RNA DEL GTGTGT GTGTGT - rs140034450 TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr22:34534132_34534137delGTGTGT ENST00000412218.1 + 0 198 ATACCCCATCgtgtgtgtgtgtgtgt 0.398 2 4 --- --- --- --- LOC284930 284930 broad.mit.edu 37 22 48165453 48165453 + RNA DEL T T - rs80134842 TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chr22:48165453delT ENST00000423737.1 + 0 1125 atagtccccctatttgttgtc 0.383 3 3 --- --- --- --- RP1-154K9.2 0 broad.mit.edu 37 X 42337106 42337107 + RNA INS - - C TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chrX:42337106_42337107insC ENST00000411879.1 + 0 452 ctctttctctgccccttgctct 0.515 2 4 --- --- --- --- RP1-154K9.2 0 broad.mit.edu 37 X 42505355 42505356 + RNA INS - - A TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chrX:42505355_42505356insA ENST00000411879.1 + 0 676 TATGTACATTTAAAAAACACTA 0.302 2 4 --- --- --- --- DGKK 139189 broad.mit.edu 37 X 50164260 50164260 + RNA DEL A A - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chrX:50164260delA ENST00000376025.2 - 0 897 Q5KSL6 DGKK_HUMAN diacylglycerol kinase, kappa activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(276;0.236) CCCAGAGGGCAGGAGGGATCA 0.498 2 4 --- --- --- --- FIRRE 286467 broad.mit.edu 37 X 130872439 130872439 + RNA DEL C C - TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9394b536-cd08-414b-86a3-c6491f967709 a1ff951a-725c-47d8-b214-82737a73f2dd g.chrX:130872439delC ENST00000427391.1 - 0 1930 NR_026975.1 gagcgagactccatctcacac 0.458 2 4 --- --- --- ---