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 TRIML2 205860 broad.mit.edu 37 4 189022258 189022258 + Silent SNP C C T rs141580546 by1000genomes TCGA-NA-A4QW-01A-11D-A28R-08 TCGA-NA-A4QW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c486c36-01d0-4ff7-9478-19b0104898b1 c0493785-cc4a-4a03-bc34-0e14e890571b g.chr4:189022258C>T ENST00000512729.1 - 3 656 c.282G>A c.(280-282)gcG>gcA p.A94A TRIML2_ENST00000536972.1_Silent_p.A144A|TRIML2_ENST00000326754.3_Silent_p.A94A NM_173553.1 NP_775824.1 Q8N7C3 TRIMM_HUMAN tripartite motif family-like 2 94 ligase activity central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1) 39 all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513) OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163) CAAGCTTGATCGCTTGATTCA 0.433000 10 3 0 0 1 0 0 SPHKAP 80309 broad.mit.edu 37 2 228860403 228860403 + Missense_Mutation SNP G G A TCGA-NA-A4QW-01A-11D-A28R-08 TCGA-NA-A4QW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c486c36-01d0-4ff7-9478-19b0104898b1 c0493785-cc4a-4a03-bc34-0e14e890571b g.chr2:228860403G>A ENST00000392056.3 - 8 4502 c.4456C>T c.(4456-4458)Ctt>Ttt p.L1486F SPHKAP_ENST00000344657.5_Missense_Mutation_p.L1486F NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 1486 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) CTGGTATCAAGGCTGTCACTG 0.532000 7 46 0 0 1 0 0 B4GALNT3 283358 broad.mit.edu 37 12 644395 644395 + Missense_Mutation SNP C C T TCGA-NA-A4QW-01A-11D-A28R-08 TCGA-NA-A4QW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c486c36-01d0-4ff7-9478-19b0104898b1 c0493785-cc4a-4a03-bc34-0e14e890571b g.chr12:644395C>T ENST00000266383.5 + 2 246 c.233C>T c.(232-234)cCa>cTa p.P78L NM_173593.3 NP_775864.3 Q6L9W6 B4GN3_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 3 78 Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215) OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262) GCTGTGGATCCACACCTCCAG 0.597000 6 29 0 0 1 0 0 XYLT2 64132 broad.mit.edu 37 17 48431783 48431783 + Missense_Mutation SNP G G A rs148860176 byFrequency TCGA-NA-A4QW-01A-11D-A28R-08 TCGA-NA-A4QW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c486c36-01d0-4ff7-9478-19b0104898b1 c0493785-cc4a-4a03-bc34-0e14e890571b g.chr17:48431783G>A ENST00000017003.2 + 3 692 c.643G>A c.(643-645)Ggc>Agc p.G215S XYLT2_ENST00000507602.1_Missense_Mutation_p.G215S NM_022167.2 NP_071450.2 Q9H1B5 XYLT2_HUMAN xylosyltransferase II 215 glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1) 12 Breast(11;7.18e-19) GATGAGCCCCGGCATCCAGTG 0.667000 33 17 0 0 1 0 0 DHPS 1725 broad.mit.edu 37 19 12792434 12792434 + Missense_Mutation SNP G G C TCGA-NA-A4QW-01A-11D-A28R-08 TCGA-NA-A4QW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c486c36-01d0-4ff7-9478-19b0104898b1 c0493785-cc4a-4a03-bc34-0e14e890571b g.chr19:12792434G>C ENST00000210060.7 - 1 282 c.147C>G c.(145-147)ttC>ttG p.F49L DHPS_ENST00000351660.5_Missense_Mutation_p.F49L NM_001930.3 NP_001921.1 P49366 DHYS_HUMAN deoxyhypusine synthase 49 peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|post-translational protein modification|spermidine catabolic process to deoxyhypusine, using deoxyhypusine synthase|translation cytosol deoxyhypusine synthase activity|protein binding central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2) 8 Sulfadoxine(DB01299) CGGTGGTGCCGAAGGCCTCCA 0.632000 44 8 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195505836 195505836 + Missense_Mutation SNP G G C TCGA-NA-A4QW-01A-11D-A28R-08 TCGA-NA-A4QW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c486c36-01d0-4ff7-9478-19b0104898b1 c0493785-cc4a-4a03-bc34-0e14e890571b g.chr3:195505836G>C ENST00000463781.3 - 2 13074 c.12615C>G c.(12613-12615)caC>caG p.H4205Q MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 968 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity p.H4205Q(10) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GAGGGGTGGCGTGACCTGTGG 0.597000 4 9 0 0 1 0 0 PCDHGA11 0 broad.mit.edu 37 5 140801920 140801920 + Missense_Mutation SNP G G A TCGA-NA-A4QW-01A-11D-A28R-08 TCGA-NA-A4QW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c486c36-01d0-4ff7-9478-19b0104898b1 c0493785-cc4a-4a03-bc34-0e14e890571b g.chr5:140801920G>A ENST00000398587.2 + 1 1159 c.1126G>A c.(1126-1128)Gat>Aat p.D376N PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.D376N|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron NM_018914.2|NM_032092.1 NP_061737.1|NP_114481.1 breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCAAGATCAAGATTCTGGAGA 0.348000 5 37 0 0 1 0 0 ZCCHC6 79670 broad.mit.edu 37 9 88937264 88937264 + Missense_Mutation SNP C C A TCGA-NA-A4QW-01A-11D-A28R-08 TCGA-NA-A4QW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c486c36-01d0-4ff7-9478-19b0104898b1 c0493785-cc4a-4a03-bc34-0e14e890571b g.chr9:88937264C>A ENST00000277141.6 - 15 3295 c.871G>T c.(871-873)Gat>Tat p.D291Y ZCCHC6_ENST00000375963.3_Missense_Mutation_p.D1002Y|ZCCHC6_ENST00000375960.2_Intron|ZCCHC6_ENST00000375961.2_Missense_Mutation_p.D1002Y Q5VYS8 TUT7_HUMAN zinc finger, CCHC domain containing 6 1002 RNA 3'-end processing nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 46 CAGACTTGATCTAAGATATTT 0.343000 18 8 3.51602e-12 3.75684e-12 1 1 0 CR1 1378 broad.mit.edu 37 1 207751246 207751246 + Missense_Mutation SNP G G A TCGA-NA-A4QW-01A-11D-A28R-08 TCGA-NA-A4QW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c486c36-01d0-4ff7-9478-19b0104898b1 c0493785-cc4a-4a03-bc34-0e14e890571b g.chr1:207751246G>A ENST00000367049.4 + 29 4634 c.4634G>A c.(4633-4635)tGc>tAc p.C1545Y CR1_ENST00000367052.1_Missense_Mutation_p.C1095Y|RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000367051.1_Missense_Mutation_p.C1095Y|CR1_ENST00000367053.1_Missense_Mutation_p.C1095Y|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000400960.2_Missense_Mutation_p.C1095Y NM_000651.4 NP_000642.3 P17927 CR1_HUMAN complement component (3b/4b) receptor 1 (Knops blood group) 1095 Sushi 24. complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 ACCTACCGCTGCAATCTTGGA 0.522000 8 223 0 0 1 0 0 NUP43 348995 broad.mit.edu 37 6 150067548 150067548 + Silent SNP G G A TCGA-NA-A4QW-01A-11D-A28R-08 TCGA-NA-A4QW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c486c36-01d0-4ff7-9478-19b0104898b1 c0493785-cc4a-4a03-bc34-0e14e890571b g.chr6:150067548G>A ENST00000340413.2 - 1 160 c.84C>T c.(82-84)acC>acT p.T28T NUP43_ENST00000367403.3_Silent_p.T89T|NUP43_ENST00000367404.4_Silent_p.T28T|NUP43_ENST00000463048.3_Intron|NUP43_ENST00000460354.2_Silent_p.T28T NM_198887.1 NP_942590.1 Q8NFH3 NUP43_HUMAN nucleoporin 43kDa 28 carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex protein binding breast(1)|large_intestine(2)|lung(8)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 18 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101) ACGTCTCCGCGGTCTGTAAAC 0.587000 OREG0017720 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 94 130 0 0 1 0 0 CKM 1158 broad.mit.edu 37 19 45811690 45811690 + Missense_Mutation SNP G G A TCGA-NA-A4QW-01A-11D-A28R-08 TCGA-NA-A4QW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c486c36-01d0-4ff7-9478-19b0104898b1 c0493785-cc4a-4a03-bc34-0e14e890571b g.chr19:45811690G>A ENST00000221476.3 - 6 928 c.754C>T c.(754-756)Cgc>Tgc p.R252C NM_001824.4 NP_001815.2 P06732 KCRM_HUMAN creatine kinase, muscle 252 Phosphagen kinase C-terminal. creatine metabolic process cytosol ATP binding|creatine kinase activity cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2) 17 Ovarian(192;0.0336)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07) Creatine(DB00148) ACGCAGAAGCGGCGGAAAACC 0.597000 11 46 0 0 1 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803315 142803315 + RNA SNP A A C TCGA-NA-A4QW-01A-11D-A28R-08 TCGA-NA-A4QW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c486c36-01d0-4ff7-9478-19b0104898b1 c0493785-cc4a-4a03-bc34-0e14e890571b g.chr1:142803315A>C ENST00000423385.1 - 0 1650 ACAGGATGTAAAGCATACACA 0.378000 3 11 0 0 1 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102506745 102506745 + Missense_Mutation SNP G G A TCGA-NA-A4QW-01A-11D-A28R-08 TCGA-NA-A4QW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c486c36-01d0-4ff7-9478-19b0104898b1 c0493785-cc4a-4a03-bc34-0e14e890571b g.chr14:102506745G>A ENST00000360184.4 + 63 12027 c.11863G>A c.(11863-11865)Gag>Aag p.E3955K RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 3955 cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 TCAGGCAGACGAGGTGATTGT 0.512000 20 33 0 0 1 0 0 NBPF15 284565 broad.mit.edu 37 1 148594544 148594544 + Silent SNP T T C TCGA-NA-A4QW-01A-11D-A28R-08 TCGA-NA-A4QW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c486c36-01d0-4ff7-9478-19b0104898b1 c0493785-cc4a-4a03-bc34-0e14e890571b g.chr1:148594544T>C ENST00000442702.2 + 21 2984 c.1917T>C c.(1915-1917)caT>caC p.H639H NBPF15_ENST00000369187.3_Silent_p.H639H NM_001170755.1 NP_001164226.1 Q8N660 NBPFF_HUMAN neuroblastoma breakpoint family, member 15 639 NBPF 6. cytoplasm NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2) 12 all_hematologic(923;0.032) AGGAAGAGCATATCAGCTTCG 0.433000 5 242 0 0 1 0 0 OR7A5 26659 broad.mit.edu 37 19 14938184 14938184 + Silent SNP A A G TCGA-NA-A4QW-01A-11D-A28R-08 TCGA-NA-A4QW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c486c36-01d0-4ff7-9478-19b0104898b1 c0493785-cc4a-4a03-bc34-0e14e890571b g.chr19:14938184A>G ENST00000322301.3 - 2 957 c.870T>C c.(868-870)taT>taC p.Y290Y OR7A5_ENST00000601611.1_Intron|OR7A5_ENST00000594432.1_Silent_p.Y290Y Q15622 OR7A5_HUMAN olfactory receptor, family 7, subfamily A, member 5 290 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.Y290Y(2) breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 TCCTCAGACTATAGATAAAGG 0.478000 4 91 0 0 1 0 0 AGPAT6 137964 broad.mit.edu 37 8 41467297 41467297 + Missense_Mutation SNP G G A TCGA-NA-A4QW-01A-11D-A28R-08 TCGA-NA-A4QW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c486c36-01d0-4ff7-9478-19b0104898b1 c0493785-cc4a-4a03-bc34-0e14e890571b g.chr8:41467297G>A ENST00000396987.3 + 4 1286 c.359G>A c.(358-360)cGg>cAg p.R120Q RP11-360L9.8_ENST00000581909.1_RNA NM_178819.3 NP_848934.1 Q86UL3 GPAT4_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 6 120 acyl-CoA metabolic process|lactation|phosphatidylcholine biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|membrane fraction glycerol-3-phosphate O-acyltransferase activity endometrium(3)|kidney(2)|large_intestine(3)|lung(6) 14 Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211) all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844) OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147) TACTTTTGCCGGAAAGGAATG 0.443000 121 50 0 0 1 0 0 NPY4R 0 broad.mit.edu 37 10 47087186 47087186 + Missense_Mutation SNP G G A rs144429123 TCGA-NA-A4QW-01A-11D-A28R-08 TCGA-NA-A4QW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c486c36-01d0-4ff7-9478-19b0104898b1 c0493785-cc4a-4a03-bc34-0e14e890571b g.chr10:47087186G>A ENST00000374312.1 + 3 822 c.403G>A c.(403-405)Gtg>Atg p.V135M NPY4R_ENST00000395716.1_Missense_Mutation_p.V135M NM_005972.4 NP_005963.3 neuropeptide Y receptor Y4 p.V135M(1) GCTCGTCCTCGTGGCCCTGGA 0.572000 42 353 0 0 1 0 0 PPM1E 22843 broad.mit.edu 37 17 57057477 57057477 + Silent SNP C C T rs140315231 TCGA-NA-A4QW-01A-11D-A28R-08 TCGA-NA-A4QW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c486c36-01d0-4ff7-9478-19b0104898b1 c0493785-cc4a-4a03-bc34-0e14e890571b g.chr17:57057477C>T ENST00000308249.2 + 7 1482 c.1353C>T c.(1351-1353)tcC>tcT p.S451S NM_014906.4 NP_055721.3 Q8WY54 PPM1E_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1E 460 PP2C-like. protein dephosphorylation cytoplasm|nucleolus|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2) 33 Medulloblastoma(34;0.127)|all_neural(34;0.237) BRCA - Breast invasive adenocarcinoma(1;5.76e-11) AAGTTGTGTCCGACCACCTGA 0.502000 13 40 0 0 1 0 0 POLR2A 5430 broad.mit.edu 37 17 7414885 7414885 + Missense_Mutation SNP A A G TCGA-NA-A4QW-01A-11D-A28R-08 TCGA-NA-A4QW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c486c36-01d0-4ff7-9478-19b0104898b1 c0493785-cc4a-4a03-bc34-0e14e890571b g.chr17:7414885A>G ENST00000322644.6 + 24 4478 c.4079A>G c.(4078-4080)aAt>aGt p.N1360S NM_000937.4 NP_000928.1 P24928 RPB1_HUMAN polymerase (RNA) II (DNA directed) polypeptide A, 220kDa 1360 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 50 Prostate(122;0.173) ACCACGTCCAATGACATTGTG 0.592000 15 3 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577538 7577538 + Missense_Mutation SNP C C T rs11540652 TCGA-NA-A4QW-01A-11D-A28R-08 TCGA-NA-A4QW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c486c36-01d0-4ff7-9478-19b0104898b1 c0493785-cc4a-4a03-bc34-0e14e890571b g.chr17:7577538C>T ENST00000420246.2 - 7 875 c.743G>A c.(742-744)cGg>cAg p.R248Q TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 248 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain. NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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) GATGGGCCTCCGGTTCATGCC 0.572000 R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE) 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) 36 6 0 0 1 0 0 MTMR6 9107 broad.mit.edu 37 13 25848322 25848322 + Missense_Mutation SNP C C T TCGA-NA-A4QW-01A-11D-A28R-08 TCGA-NA-A4QW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c486c36-01d0-4ff7-9478-19b0104898b1 c0493785-cc4a-4a03-bc34-0e14e890571b g.chr13:25848322C>T ENST00000381801.5 - 2 789 c.28G>A c.(28-30)Gaa>Aaa p.E10K MTMR6_ENST00000540661.1_Missense_Mutation_p.E10K NM_004685.3 NP_004676.3 Q9Y217 MTMR6_HUMAN myotubularin related protein 6 10 cytoplasm|nuclear envelope calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3) 36 Lung SC(185;0.0225)|Breast(139;0.0351) all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164) TTTACTTGTTCGACCTAAAAG 0.313000 22 8 0 0 1 0 0 ZNF654 55279 broad.mit.edu 37 3 88189976 88189976 + Missense_Mutation SNP C C T TCGA-NA-A4QW-01A-11D-A28R-08 TCGA-NA-A4QW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c486c36-01d0-4ff7-9478-19b0104898b1 c0493785-cc4a-4a03-bc34-0e14e890571b g.chr3:88189976C>T ENST00000309495.5 + 1 1723 c.1516C>T c.(1516-1518)Ccc>Tcc p.P506S CGGBP1_ENST00000462901.1_Intron NM_018293.2 NP_060763.2 Q8IZM8 ZN654_HUMAN zinc finger protein 654 506 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3) 12 Lung NSC(201;0.0283) UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661) ACCATTGCCTCCCAGTTACCT 0.393000 14 58 0 0 1 0 0 TTLL5 23093 broad.mit.edu 37 14 76232491 76232491 + Missense_Mutation SNP G G A TCGA-NA-A4QW-01A-11D-A28R-08 TCGA-NA-A4QW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c486c36-01d0-4ff7-9478-19b0104898b1 c0493785-cc4a-4a03-bc34-0e14e890571b g.chr14:76232491G>A ENST00000298832.9 + 20 2000 c.1795G>A c.(1795-1797)Gaa>Aaa p.E599K TTLL5_ENST00000555422.1_3'UTR|TTLL5_ENST00000554510.1_Missense_Mutation_p.E108K|TTLL5_ENST00000557636.1_Missense_Mutation_p.E613K|TTLL5_ENST00000556893.1_Missense_Mutation_p.E150K NM_015072.4 NP_055887.3 Q6EMB2 TTLL5_HUMAN tubulin tyrosine ligase-like family, member 5 599 protein modification process|transcription, DNA-dependent centrosome|cilium|microtubule basal body|nucleus tubulin-tyrosine ligase activity NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2) 50 BRCA - Breast invasive adenocarcinoma(234;0.029) TGAAGATGAAGAACAGGAGGC 0.403000 12 19 0 0 1 0 0 DCXR 51181 broad.mit.edu 37 17 79994778 79994778 + Silent SNP G G A TCGA-NA-A4QW-01A-11D-A28R-08 TCGA-NA-A4QW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c486c36-01d0-4ff7-9478-19b0104898b1 c0493785-cc4a-4a03-bc34-0e14e890571b g.chr17:79994778G>A ENST00000306869.2 - 3 311 c.262C>T c.(262-264)Ctg>Ttg p.L88L DCXR_ENST00000584318.1_Intron NM_001195218.1|NM_016286.3 NP_001182147.1|NP_057370.1 Q7Z4W1 DCXR_HUMAN dicarbonyl/L-xylulose reductase 88 D-xylose metabolic process|glucose metabolic process|protein homotetramerization|xylulose metabolic process membrane binding|L-xylulose reductase (NADP+) activity kidney(1)|lung(3) 4 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191) GGCTGCAGCAGGGCGACAGCG 0.687000 17 14 0 0 1 0 0 IGF2BP3 10643 broad.mit.edu 37 7 23391160 23391160 + Silent SNP C C T TCGA-NA-A4QW-01A-11D-A28R-08 TCGA-NA-A4QW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c486c36-01d0-4ff7-9478-19b0104898b1 c0493785-cc4a-4a03-bc34-0e14e890571b g.chr7:23391160C>T ENST00000258729.3 - 6 803 c.447G>A c.(445-447)ttG>ttA p.L149L IGF2BP3_ENST00000491719.1_5'UTR NM_006547.2 NP_006538.2 O00425 IF2B3_HUMAN insulin-like growth factor 2 mRNA binding protein 3 149 RRM 2. anatomical structure morphogenesis|negative regulation of translation|translation cytosol|nucleus mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1) 34 AGGCTACTTTCAAGGTGAAAT 0.527000 19 43 0 0 1 0 0 RPL3L 6123 broad.mit.edu 37 16 1995899 1995899 + Silent SNP G G A TCGA-NA-A4QW-01A-11D-A28R-08 TCGA-NA-A4QW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c486c36-01d0-4ff7-9478-19b0104898b1 c0493785-cc4a-4a03-bc34-0e14e890571b g.chr16:1995899G>A ENST00000268661.7 - 8 1078 c.984C>T c.(982-984)aaC>aaT p.N328N NM_005061.2 NP_005052.1 Q92901 RL3L_HUMAN ribosomal protein L3-like 328 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|ribosome RNA binding|structural constituent of ribosome NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 17 TGACGAAGTCGTTGTTCACTT 0.612000 22 43 0 0 1 0 0 CCBL1 883 broad.mit.edu 37 9 131600040 131600040 + Missense_Mutation SNP G G A TCGA-NA-A4QW-01A-11D-A28R-08 TCGA-NA-A4QW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c486c36-01d0-4ff7-9478-19b0104898b1 c0493785-cc4a-4a03-bc34-0e14e890571b g.chr9:131600040G>A ENST00000436267.2 - 8 922 c.773C>T c.(772-774)cCc>cTc p.P258L CCBL1_ENST00000483599.1_5'UTR|CCBL1_ENST00000320665.6_Missense_Mutation_p.P114L|CCBL1_ENST00000302586.3_Missense_Mutation_p.P164L Q16773 KAT1_HUMAN cysteine conjugate-beta lyase, cytoplasmic 164 kynurenine metabolic process|L-phenylalanine catabolic process|tryptophan catabolic process cytosol|nucleus 1-aminocyclopropane-1-carboxylate synthase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|protein homodimerization activity|pyridoxal phosphate binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1) 18 L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114) CAGCTCCATGGGGTCCAGCTG 0.597000 46 6 0 0 1 0 0 SERPINB10 5273 broad.mit.edu 37 18 61585320 61585320 + Missense_Mutation SNP C C T TCGA-NA-A4QW-01A-11D-A28R-08 TCGA-NA-A4QW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c486c36-01d0-4ff7-9478-19b0104898b1 c0493785-cc4a-4a03-bc34-0e14e890571b g.chr18:61585320C>T ENST00000238508.3 + 4 415 c.356C>T c.(355-357)aCg>aTg p.T119M NM_005024.1 NP_005015.1 serpin peptidase inhibitor, clade B (ovalbumin), member 10 p.T119M(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2) 24 Esophageal squamous(42;0.131) GGAGAGAAAACGTATGCATTT 0.348000 14 5 0 0 1 0 0 UBR4 23352 broad.mit.edu 37 1 19493718 19493718 + Missense_Mutation SNP C C G TCGA-NA-A4QW-01A-11D-A28R-08 TCGA-NA-A4QW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c486c36-01d0-4ff7-9478-19b0104898b1 c0493785-cc4a-4a03-bc34-0e14e890571b g.chr1:19493718C>G ENST00000375267.2 - 29 3910 c.3907G>C c.(3907-3909)Gat>Cat p.D1303H UBR4_ENST00000375254.3_Missense_Mutation_p.D1303H|UBR4_ENST00000375217.2_Missense_Mutation_p.D1303H|UBR4_ENST00000375226.2_Missense_Mutation_p.D1303H Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 1303 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) TTCATCTCATCTGACCAACTT 0.458000 20 26 0 0 1 0 0 OR4K14 122740 broad.mit.edu 37 14 20483158 20483158 + Silent SNP C C T TCGA-NA-A4QW-01A-11D-A28R-08 TCGA-NA-A4QW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c486c36-01d0-4ff7-9478-19b0104898b1 c0493785-cc4a-4a03-bc34-0e14e890571b g.chr14:20483158C>T ENST00000305045.2 - 1 194 c.195G>A c.(193-195)ggG>ggA p.G65G NM_001004712.1 NP_001004712.1 Q8NGD5 OR4KE_HUMAN olfactory receptor, family 4, subfamily K, member 14 65 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6) 37 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2e-06) GBM - Glioblastoma multiforme(265;0.00124) AAGCTAGGTTCCCCAGCAGGA 0.483000 15 59 0 0 1 0 0 DOPEY1 23033 broad.mit.edu 37 6 83855292 83855292 + Missense_Mutation SNP G G A TCGA-NA-A4QW-01A-11D-A28R-08 TCGA-NA-A4QW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c486c36-01d0-4ff7-9478-19b0104898b1 c0493785-cc4a-4a03-bc34-0e14e890571b g.chr6:83855292G>A ENST00000349129.2 + 25 5851 c.5591G>A c.(5590-5592)cGt>cAt p.R1864H DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000237163.5_Missense_Mutation_p.R1845H|DOPEY1_ENST00000369739.3_Missense_Mutation_p.R1855H NM_015018.3 NP_055833.2 Q5JWR5 DOP1_HUMAN dopey family member 1 1864 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) GAATTGGTTCGTTCAATCAGT 0.373000 7 12 0 0 1 0 0 OR2G6 391211 broad.mit.edu 37 1 248685017 248685017 + Missense_Mutation SNP G G A TCGA-NA-A4QW-01A-11D-A28R-08 TCGA-NA-A4QW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c486c36-01d0-4ff7-9478-19b0104898b1 c0493785-cc4a-4a03-bc34-0e14e890571b g.chr1:248685017G>A ENST00000343414.4 + 1 102 c.70G>A c.(70-72)Gag>Aag p.E24K NM_001013355.1 NP_001013373.1 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, member 6 24 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GCCTCAGCTAGAGAGGTTTCT 0.463000 53 45 0 0 1 0 0 HIPK1 204851 broad.mit.edu 37 1 114483989 114483989 + Silent SNP C C A TCGA-NA-A4QW-01A-11D-A28R-08 TCGA-NA-A4QW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c486c36-01d0-4ff7-9478-19b0104898b1 c0493785-cc4a-4a03-bc34-0e14e890571b g.chr1:114483989C>A ENST00000369558.1 + 2 1216 c.984C>A c.(982-984)cgC>cgA p.R328R HIPK1_ENST00000426820.2_Silent_p.R328R|HIPK1_ENST00000369555.2_Silent_p.R328R|HIPK1_ENST00000369554.2_Silent_p.R328R|HIPK1_ENST00000369559.4_Silent_p.R328R|HIPK1_ENST00000369561.4_Silent_p.R328R Q86Z02 HIPK1_HUMAN homeodomain interacting protein kinase 1 328 Protein kinase. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2) 39 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) ATCCAGTTCGCCAGCCCTACC 0.502000 21 100 9.57634e-11 9.95939e-11 1 1 0 HLA-B 3106 broad.mit.edu 37 6 31322991 31322991 + Missense_Mutation SNP G G A TCGA-NA-A4QW-01A-11D-A28R-08 TCGA-NA-A4QW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c486c36-01d0-4ff7-9478-19b0104898b1 c0493785-cc4a-4a03-bc34-0e14e890571b g.chr6:31322991G>A ENST00000412585.2 - 5 933 c.905C>T c.(904-906)tCc>tTc p.S302F NM_005514.6 NP_005505.2 major histocompatibility complex, class I, B endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2) 27 GGTGGACTGGGAAGACGGCTC 0.597000 Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of 22 51 0 0 1 0 0 DUSP22 56940 broad.mit.edu 37 6 350858 350858 + Missense_Mutation SNP G G C TCGA-NA-A4QW-01A-11D-A28R-08 TCGA-NA-A4QW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c486c36-01d0-4ff7-9478-19b0104898b1 c0493785-cc4a-4a03-bc34-0e14e890571b g.chr6:350858G>C ENST00000344450.5 + 8 988 c.545G>C c.(544-546)aGa>aCa p.R182T DUSP22_ENST00000604971.1_3'UTR|DUSP22_ENST00000419235.2_3'UTR NM_020185.3 NP_064570.1 Q9NRW4 DUS22_HUMAN dual specificity phosphatase 22 182 apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway cytoplasm|nucleus protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2) 26 all_hematologic(77;0.228) Breast(5;0.0249)|all_hematologic(90;0.0489) OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669) GCCTTTCTCAGAAGACTGTAA 0.393000 11 37 0 0 1 0 0 MCC 4163 broad.mit.edu 37 5 112364641 112364641 + Missense_Mutation SNP G G A rs145982424 TCGA-NA-A4QW-01A-11D-A28R-08 TCGA-NA-A4QW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c486c36-01d0-4ff7-9478-19b0104898b1 c0493785-cc4a-4a03-bc34-0e14e890571b g.chr5:112364641G>A ENST00000302475.4 - 16 2862 c.2299C>T c.(2299-2301)Cgg>Tgg p.R767W MCC_ENST00000515367.2_Missense_Mutation_p.R704W|MCC_ENST00000408903.3_Missense_Mutation_p.R957W|MCC_ENST00000514701.3_5'UTR NM_002387.2 NP_002378.1 P23508 CRCM_HUMAN mutated in colorectal cancers 767 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane protein binding|receptor activity endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) CTGTTGGCCCGCTTTAGATCA 0.537000 12 175 0 0 1 0 0 CRTAC1 55118 broad.mit.edu 37 10 99696031 99696031 + Missense_Mutation SNP G G A rs80014629 byFrequency TCGA-NA-A4QW-01A-11D-A28R-08 TCGA-NA-A4QW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c486c36-01d0-4ff7-9478-19b0104898b1 c0493785-cc4a-4a03-bc34-0e14e890571b g.chr10:99696031G>A ENST00000370597.3 - 3 672 c.317C>T c.(316-318)gCg>gTg p.A106V CRTAC1_ENST00000370591.2_Missense_Mutation_p.A106V|CRTAC1_ENST00000298819.4_Missense_Mutation_p.A106V NM_018058.6 NP_060528.3 Q9NQ79 CRAC1_HUMAN cartilage acidic protein 1 106 proteinaceous extracellular matrix calcium ion binding p.A106V(1) autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 35 Colorectal(252;0.24) Epithelial(162;2.18e-10)|all cancers(201;3.27e-09) GTCCCGCAGCGCGTAGTAGGG 0.617000 28 44 0 0 1 0 0 DENND4C 55667 broad.mit.edu 37 9 19316786 19316786 + Missense_Mutation SNP G G A TCGA-NA-A4QW-01A-11D-A28R-08 TCGA-NA-A4QW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c486c36-01d0-4ff7-9478-19b0104898b1 c0493785-cc4a-4a03-bc34-0e14e890571b g.chr9:19316786G>A ENST00000380432.2 + 8 1081 c.1048G>A c.(1048-1050)Gag>Aag p.E350K DENND4C_ENST00000307015.9_5'UTR|DENND4C_ENST00000434457.2_Missense_Mutation_p.E586K|DENND4C_ENST00000602925.1_Missense_Mutation_p.E586K NM_017925.4 NP_060395.5 Q5VZ89 DEN4C_HUMAN DENN/MADD domain containing 4C 350 dDENN. integral to membrane breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 ACCAATCACAGAGGCTCCTTC 0.373000 44 15 0 0 1 0 0 TGM6 343641 broad.mit.edu 37 20 2411210 2411210 + Missense_Mutation SNP G G T TCGA-NA-A4QW-01A-11D-A28R-08 TCGA-NA-A4QW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c486c36-01d0-4ff7-9478-19b0104898b1 c0493785-cc4a-4a03-bc34-0e14e890571b g.chr20:2411210G>T ENST00000202625.2 + 11 1858 c.1797G>T c.(1795-1797)gaG>gaT p.E599D TGM6_ENST00000381423.1_Missense_Mutation_p.E599D NM_198994.2 NP_945345.2 O95932 TGM3L_HUMAN transglutaminase 6 599 cell death|peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4) 52 L-Glutamine(DB00130) TTCTGGTGGAGAAGGACATTA 0.502000 24 23 6.36457e-07 6.53206e-07 1 1 0 SUMF2 25870 broad.mit.edu 37 7 56140699 56140699 + Silent SNP C C G TCGA-NA-A4QW-01A-11D-A28R-08 TCGA-NA-A4QW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c486c36-01d0-4ff7-9478-19b0104898b1 c0493785-cc4a-4a03-bc34-0e14e890571b g.chr7:56140699C>G ENST00000434526.2 + 3 322 c.291C>G c.(289-291)gtC>gtG p.V97V SUMF2_ENST00000437307.2_Silent_p.V78V|SUMF2_ENST00000275607.9_5'UTR|SUMF2_ENST00000413756.1_Silent_p.V78V|SUMF2_ENST00000342190.6_Silent_p.V97V|SUMF2_ENST00000395436.2_Silent_p.V97V|SUMF2_ENST00000395435.2_Silent_p.V97V NM_001042469.1|NM_015411.2 NP_001035934.2|NP_056226.2 Q8NBJ7 SUMF2_HUMAN sulfatase modifying factor 2 78 endoplasmic reticulum lumen metal ion binding breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1) 14 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) GGGATTTTGTCAGGGAGAAAA 0.478000 10 25 0 0 1 0 0 NCK1 4690 broad.mit.edu 37 3 136664877 136664877 + Missense_Mutation SNP C C T TCGA-NA-A4QW-01A-11D-A28R-08 TCGA-NA-A4QW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c486c36-01d0-4ff7-9478-19b0104898b1 c0493785-cc4a-4a03-bc34-0e14e890571b g.chr3:136664877C>T ENST00000469404.1 + 2 578 c.487C>T c.(487-489)Cca>Tca p.P163S NCK1_ENST00000288986.2_Missense_Mutation_p.P227S|NCK1_ENST00000481752.1_Missense_Mutation_p.P227S NM_001190796.1 NP_001177725.1 P16333 NCK1_HUMAN NCK adaptor protein 1 227 SH3 2. axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway cytosol|endoplasmic reticulum|nucleus cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 13 TGAAAATGACCCAGAGTGGTG 0.378000 47 47 0 0 1 0 0 OTUD7B 56957 broad.mit.edu 37 1 149916917 149916917 + Missense_Mutation SNP C C A TCGA-NA-A4QW-01A-11D-A28R-08 TCGA-NA-A4QW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c486c36-01d0-4ff7-9478-19b0104898b1 c0493785-cc4a-4a03-bc34-0e14e890571b g.chr1:149916917C>A ENST00000369135.3 - 12 1665 c.1371G>T c.(1369-1371)gaG>gaT p.E457D NM_020205.2 NP_064590.2 Q6GQQ9 OTU7B_HUMAN OTU domain containing 7B 457 negative regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|microtubule cytoskeleton|nucleus cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247) TGGACCGGGGCTCATCTCCAG 0.622000 28 45 1.42536e-11 1.5024e-11 1 1 0 ATRN 8455 broad.mit.edu 37 20 3614997 3614997 + Missense_Mutation SNP G G C TCGA-NA-A4QW-01A-11D-A28R-08 TCGA-NA-A4QW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c486c36-01d0-4ff7-9478-19b0104898b1 c0493785-cc4a-4a03-bc34-0e14e890571b g.chr20:3614997G>C ENST00000262919.5 + 26 3971 c.3903G>C c.(3901-3903)tgG>tgC p.W1301C NM_139321.2 NP_647537.1 O75882 ATRN_HUMAN attractin 1301 inflammatory response extracellular space|integral to plasma membrane receptor activity|sugar binding breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 59 CTGTGGTTTGGAAGATCAAAC 0.458000 11 66 0 0 1 0 0 SLC16A12 387700 broad.mit.edu 37 10 91198855 91198855 + Silent SNP G G A TCGA-NA-A4QW-01A-11D-A28R-08 TCGA-NA-A4QW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c486c36-01d0-4ff7-9478-19b0104898b1 c0493785-cc4a-4a03-bc34-0e14e890571b g.chr10:91198855G>A ENST00000341233.4 - 6 834 c.444C>T c.(442-444)atC>atT p.I148I SLC16A12_ENST00000371790.4_Silent_p.I178I NM_213606.3 NP_998771.3 Q6ZSM3 MOT12_HUMAN solute carrier family 16, member 12 148 integral to membrane|plasma membrane symporter activity central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1) 14 CTGACATGGCGATACCATAAG 0.498000 20 140 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144940732 144940732 + Silent SNP C C T TCGA-NA-A4QW-01A-11D-A28R-08 TCGA-NA-A4QW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c486c36-01d0-4ff7-9478-19b0104898b1 c0493785-cc4a-4a03-bc34-0e14e890571b g.chr8:144940732C>T ENST00000525985.1 - 2 6761 c.6690G>A c.(6688-6690)ctG>ctA p.L2230L P58107 EPIPL_HUMAN epiplakin 1 2230 cytoplasm|cytoskeleton protein binding|structural molecule activity p.L2230L(1) NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) TGGCGGGCACCAGGACGCCCG 0.687000 6 151 0 0 1 0 0 RP11-262H14.1 0 broad.mit.edu 37 9 66457499 66457499 + RNA SNP G G A TCGA-NA-A4QW-01A-11D-A28R-08 TCGA-NA-A4QW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c486c36-01d0-4ff7-9478-19b0104898b1 c0493785-cc4a-4a03-bc34-0e14e890571b g.chr9:66457499G>A ENST00000424345.1 + 0 67 GTTGCTTTGGGGGTGCGTTTC 0.547000 4 11 0 0 1 0 0 FAM135B 51059 broad.mit.edu 37 8 139151238 139151238 + Missense_Mutation SNP G G T TCGA-NA-A4QW-01A-11D-A28R-08 TCGA-NA-A4QW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c486c36-01d0-4ff7-9478-19b0104898b1 c0493785-cc4a-4a03-bc34-0e14e890571b g.chr8:139151238G>T ENST00000395297.1 - 18 4062 c.3892C>A c.(3892-3894)Caa>Aaa p.Q1298K NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 1298 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) CCTGTTTTTTGGCTTAGTTGG 0.438000 HNSCC(54;0.14) 16 22 5.01169e-05 5.07678e-05 1 1 0 ATP4A 495 broad.mit.edu 37 19 36051399 36051399 + Missense_Mutation SNP G G A TCGA-NA-A4QW-01A-11D-A28R-08 TCGA-NA-A4QW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c486c36-01d0-4ff7-9478-19b0104898b1 c0493785-cc4a-4a03-bc34-0e14e890571b g.chr19:36051399G>A ENST00000262623.3 - 6 681 c.653C>T c.(652-654)gCg>gTg p.A218V NM_000704.2 NP_000695.2 P20648 ATP4A_HUMAN ATPase, H+/K+ exchanging, alpha polypeptide 218 ATP biosynthetic process|ATP hydrolysis coupled proton transport integral to plasma membrane ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding p.A218V(1) breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 53 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831) GCCCTGGGCCGCCAGGATGCG 0.637000 57 100 0 0 1 0 0 PPP2R1A 5518 broad.mit.edu 37 19 52715983 52715983 + Missense_Mutation SNP G G A TCGA-NA-A4QW-01A-11D-A28R-08 TCGA-NA-A4QW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c486c36-01d0-4ff7-9478-19b0104898b1 c0493785-cc4a-4a03-bc34-0e14e890571b g.chr19:52715983G>A ENST00000322088.6 + 5 606 c.548G>A c.(547-549)cGg>cAg p.R183Q PPP2R1A_ENST00000444322.2_Missense_Mutation_p.R128Q|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.R4Q NM_014225.5 NP_055040.2 P30153 2AAA_HUMAN protein phosphatase 2, regulatory subunit A, alpha 183 PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding. ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity p.R183Q(10) NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 135 GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015) ATGGTGCGGCGGGCCGCAGCC 0.617000 Mis clear cell ovarian carcinoma 91 12 0 0 1 0 0 GBP5 115362 broad.mit.edu 37 1 89730615 89730615 + Silent SNP G G A TCGA-NA-A4QW-01A-11D-A28R-08 TCGA-NA-A4QW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c486c36-01d0-4ff7-9478-19b0104898b1 c0493785-cc4a-4a03-bc34-0e14e890571b g.chr1:89730615G>A ENST00000343435.5 - 8 1439 c.903C>T c.(901-903)gcC>gcT p.A301A GBP5_ENST00000481145.1_5'UTR|RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000370459.3_Silent_p.A301A NM_001134486.2|NM_052942.3 NP_001127958.1|NP_443174.1 Q96PP8 GBP5_HUMAN guanylate binding protein 5 301 plasma membrane GTP binding|GTPase activity breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1) 24 all cancers(265;0.00784)|Epithelial(280;0.0286) CACTGCTGATGGCATTGACAT 0.443000 23 42 0 0 1 0 0 NOSIP 0 broad.mit.edu 37 19 50062164 50062164 + Missense_Mutation SNP C C T TCGA-NA-A4QW-01A-11D-A28R-08 TCGA-NA-A4QW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c486c36-01d0-4ff7-9478-19b0104898b1 c0493785-cc4a-4a03-bc34-0e14e890571b g.chr19:50062164C>T ENST00000391853.3 - 5 399 c.248G>A c.(247-249)cGg>cAg p.R83Q NOSIP_ENST00000596358.1_Missense_Mutation_p.R83Q|NOSIP_ENST00000339093.3_Missense_Mutation_p.R83Q NM_015953.3 NP_057037.1 Q9Y314 NOSIP_HUMAN nitric oxide synthase interacting protein 83 negative regulation of nitric-oxide synthase activity|nitric oxide metabolic process cytosol|nucleus protein binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|skin(2)|urinary_tract(1) 11 all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00321)|GBM - Glioblastoma multiforme(134;0.0133) CTTCATCTGCCGGGCAATCTC 0.562000 15 428 0 0 1 0 0 HIST1H2BF 8343 broad.mit.edu 37 6 26200068 26200068 + Silent SNP G G A TCGA-NA-A4QW-01A-11D-A28R-08 TCGA-NA-A4QW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c486c36-01d0-4ff7-9478-19b0104898b1 c0493785-cc4a-4a03-bc34-0e14e890571b g.chr6:26200068G>A ENST00000359985.1 + 1 321 c.282G>A c.(280-282)gaG>gaA p.E94E NM_003522.3 NP_003513.1 P62807 H2B1C_HUMAN histone cluster 1, H2bf 94 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3) 17 all_hematologic(11;0.196) CCTCCAGGGAGATCCAGACGG 0.602000 69 120 0 0 1 0 0 MYCBP2 23077 broad.mit.edu 37 13 77792029 77792029 + Missense_Mutation SNP G G C TCGA-NA-A4QW-01A-11D-A28R-08 TCGA-NA-A4QW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c486c36-01d0-4ff7-9478-19b0104898b1 c0493785-cc4a-4a03-bc34-0e14e890571b g.chr13:77792029G>C ENST00000407578.2 - 21 3269 c.3003C>G c.(3001-3003)aaC>aaG p.N1001K MYCBP2_ENST00000357337.6_Missense_Mutation_p.N963K|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000544440.2_Missense_Mutation_p.N963K NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 963 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) CTGCCGTATGGTTGCTGCCTG 0.378000 25 85 0 0 1 0 0 ZNF781 163115 broad.mit.edu 37 19 38160916 38160916 + Missense_Mutation SNP C C T TCGA-NA-A4QW-01A-11D-A28R-08 TCGA-NA-A4QW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c486c36-01d0-4ff7-9478-19b0104898b1 c0493785-cc4a-4a03-bc34-0e14e890571b g.chr19:38160916C>T ENST00000358582.4 - 4 882 c.134G>A c.(133-135)cGt>cAt p.R45H ZNF781_ENST00000590008.1_Missense_Mutation_p.R45H|ZFP30_ENST00000586732.1_Intron NM_152605.3 NP_689818.2 Q8N8C0 ZN781_HUMAN zinc finger protein 781 45 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 24 AAGGTGGGCACGCTTTCTAAA 0.383000 127 98 0 0 1 0 0 ITPKB 3707 broad.mit.edu 37 1 226827357 226827357 + Silent SNP T T C TCGA-NA-A4QW-01A-11D-A28R-08 TCGA-NA-A4QW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c486c36-01d0-4ff7-9478-19b0104898b1 c0493785-cc4a-4a03-bc34-0e14e890571b g.chr1:226827357T>C ENST00000429204.1 - 6 2781 c.2454A>G c.(2452-2454)aaA>aaG p.K818K ITPKB_ENST00000272117.3_Silent_p.K818K NM_002221.3 NP_002212.3 P27987 IP3KB_HUMAN inositol-trisphosphate 3-kinase B 818 ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1) 30 Prostate(94;0.0773) TGCCGTCTTCTTTCTGAGAAA 0.567000 18 37 0 0 1 0 0 MAN2C1 4123 broad.mit.edu 37 15 75653473 75653473 + Silent SNP G G C TCGA-NA-A4QW-01A-11D-A28R-08 TCGA-NA-A4QW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c486c36-01d0-4ff7-9478-19b0104898b1 c0493785-cc4a-4a03-bc34-0e14e890571b g.chr15:75653473G>C ENST00000565683.1 - 12 1385 c.1374C>G c.(1372-1374)ctC>ctG p.L458L MAN2C1_ENST00000563622.1_Silent_p.L359L|MAN2C1_ENST00000267978.5_Silent_p.L458L|MAN2C1_ENST00000569482.1_Silent_p.L458L NM_001256494.1 NP_001243423.1 Q9NTJ4 MA2C1_HUMAN mannosidase, alpha, class 2C, member 1 458 mannose metabolic process alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 44 CAAAGCCAAAGAGGAAGGCAC 0.647000 12 3 0 0 1 0 0 CDH9 1007 broad.mit.edu 37 5 26881650 26881650 + Silent SNP G G A TCGA-NA-A4QW-01A-11D-A28R-08 TCGA-NA-A4QW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c486c36-01d0-4ff7-9478-19b0104898b1 c0493785-cc4a-4a03-bc34-0e14e890571b g.chr5:26881650G>A ENST00000231021.4 - 12 2137 c.1965C>T c.(1963-1965)aaC>aaT p.N655N NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 655 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 AGGTCACAATGTTGTCCCGGA 0.413000 31 93 0 0 1 0 0 DIP2A 23181 broad.mit.edu 37 21 47961709 47961709 + Missense_Mutation SNP C C A TCGA-NA-A4QW-01A-11D-A28R-08 TCGA-NA-A4QW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c486c36-01d0-4ff7-9478-19b0104898b1 c0493785-cc4a-4a03-bc34-0e14e890571b g.chr21:47961709C>A ENST00000318711.7 + 18 2263 c.2080C>A c.(2080-2082)Ctg>Atg p.L694M DIP2A_ENST00000427143.2_Missense_Mutation_p.L629M|DIP2A_ENST00000417564.2_Missense_Mutation_p.L693M|DIP2A_ENST00000400274.1_Missense_Mutation_p.L689M|DIP2A_ENST00000457905.3_Missense_Mutation_p.L693M|DIP2A_ENST00000435722.3_Missense_Mutation_p.L693M|DIP2A_ENST00000466639.1_Missense_Mutation_p.L650M NM_001146116.1|NM_015151.3 NP_001139588.1|NP_055966.2 Q14689 DIP2A_HUMAN DIP2 disco-interacting protein 2 homolog A (Drosophila) 693 multicellular organismal development nucleus catalytic activity|transcription factor binding cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Breast(49;0.0933) Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824) AAAAGCAGTCCTGTCGATGAA 0.488000 19 31 1.56452e-12 1.6949e-12 1 1 0 CNTNAP3 79937 broad.mit.edu 37 9 39133037 39133037 + Missense_Mutation SNP C C G TCGA-NA-A4QW-01A-11D-A28R-08 TCGA-NA-A4QW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c486c36-01d0-4ff7-9478-19b0104898b1 c0493785-cc4a-4a03-bc34-0e14e890571b g.chr9:39133037C>G ENST00000297668.6 - 13 2045 c.1972G>C c.(1972-1974)Gcg>Ccg p.A658P CNTNAP3_ENST00000377659.1_Missense_Mutation_p.A657P|CNTNAP3_ENST00000323947.7_Missense_Mutation_p.A564P|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.A570P|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.A657P NM_033655.3 NP_387504.2 Q9BZ76 CNTP3_HUMAN contactin associated protein-like 3 658 Fibrinogen C-terminal. cell adhesion|cell recognition|signal transduction extracellular region|integral to membrane|plasma membrane receptor binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 24 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) GCTGCGTACGCGAAGGACACA 0.776000 3 6 0 0 1 0 0 ZFP14 57677 broad.mit.edu 37 19 36832073 36832073 + Missense_Mutation SNP G G A TCGA-NA-A4QW-01A-11D-A28R-08 TCGA-NA-A4QW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c486c36-01d0-4ff7-9478-19b0104898b1 c0493785-cc4a-4a03-bc34-0e14e890571b g.chr19:36832073G>A ENST00000270001.7 - 5 770 c.655C>T c.(655-657)Cac>Tac p.H219Y NM_020917.2 NP_065968.1 Q9HCL3 ZFP14_HUMAN ZFP14 zinc finger protein 219 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 26 Esophageal squamous(110;0.162) TGAAGTTTGTGATGTCGAATA 0.443000 30 144 0 0 1 0 0 TLN2 83660 broad.mit.edu 37 15 62942335 62942335 + Missense_Mutation SNP G G T TCGA-NA-A4QW-01A-11D-A28R-08 TCGA-NA-A4QW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c486c36-01d0-4ff7-9478-19b0104898b1 c0493785-cc4a-4a03-bc34-0e14e890571b g.chr15:62942335G>T ENST00000561311.1 + 4 419 c.189G>T c.(187-189)tgG>tgT p.W63C TLN2_ENST00000306829.6_Missense_Mutation_p.W63C Q9Y4G6 TLN2_HUMAN talin 2 63 cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5) 99 AAGGGATTTGGCTGGAAGCGG 0.478000 40 6 1.30998e-17 1.43914e-17 1 1 0 TNRC18 84629 broad.mit.edu 37 7 5352339 5352339 + Missense_Mutation SNP G G A TCGA-NA-A4QW-01A-11D-A28R-08 TCGA-NA-A4QW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c486c36-01d0-4ff7-9478-19b0104898b1 c0493785-cc4a-4a03-bc34-0e14e890571b g.chr7:5352339G>A ENST00000399537.4 - 27 8531 c.8183C>T c.(8182-8184)gCg>gTg p.A2728V TNRC18_ENST00000430969.1_Missense_Mutation_p.A2728V O15417 TNC18_HUMAN trinucleotide repeat containing 18 2728 DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8) 11 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) CGGAGGAGGCGCCTGGGGCTG 0.736000 6 15 0 0 1 0 0 SLC10A2 6555 broad.mit.edu 37 13 103710664 103710664 + Missense_Mutation SNP G G A TCGA-NA-A4QW-01A-11D-A28R-08 TCGA-NA-A4QW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c486c36-01d0-4ff7-9478-19b0104898b1 c0493785-cc4a-4a03-bc34-0e14e890571b g.chr13:103710664G>A ENST00000245312.3 - 2 1042 c.446C>T c.(445-447)aCc>aTc p.T149I NM_000452.2 NP_000443.1 Q12908 NTCP2_HUMAN solute carrier family 10 (sodium/bile acid cotransporter), member 2 149 bile acid metabolic process|organic anion transport integral to plasma membrane bile acid:sodium symporter activity breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) CCACATTTTGGTATAGATAAG 0.483000 13 75 0 0 1 0 0 DPP10 57628 broad.mit.edu 37 2 116572463 116572463 + Missense_Mutation SNP T T A TCGA-NA-A4QW-01A-11D-A28R-08 TCGA-NA-A4QW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c486c36-01d0-4ff7-9478-19b0104898b1 c0493785-cc4a-4a03-bc34-0e14e890571b g.chr2:116572463T>A ENST00000410059.1 + 20 2275 c.1795T>A c.(1795-1797)Ttt>Att p.F599I DPP10_ENST00000393147.2_Missense_Mutation_p.F603I|DPP10_ENST00000310323.8_Missense_Mutation_p.F592I|DPP10_ENST00000409163.1_Missense_Mutation_p.F549I NM_001178037.1|NM_020868.3 NP_001171508.1|NP_065919.2 Q8N608 DPP10_HUMAN dipeptidyl-peptidase 10 (non-functional) 599 proteolysis integral to membrane|membrane fraction serine-type peptidase activity p.F592I(1)|p.F599I(1) breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1) 101 TGTAGCAAGATTTGATGGCAG 0.423000 33 117 0 0 1 0 0 TEX10 54881 broad.mit.edu 37 9 103109336 103109336 + Missense_Mutation SNP C C T TCGA-NA-A4QW-01A-11D-A28R-08 TCGA-NA-A4QW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c486c36-01d0-4ff7-9478-19b0104898b1 c0493785-cc4a-4a03-bc34-0e14e890571b g.chr9:103109336C>T ENST00000374902.4 - 3 709 c.533G>A c.(532-534)cGt>cAt p.R178H TEX10_ENST00000535814.1_Missense_Mutation_p.R181H|TEX10_ENST00000537512.1_Missense_Mutation_p.R113H NM_017746.3 NP_060216.2 Q9NXF1 TEX10_HUMAN testis expressed 10 178 integral to membrane|MLL1 complex|nuclear membrane|nucleolus binding NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 38 Acute lymphoblastic leukemia(62;0.0527) OV - Ovarian serous cystadenocarcinoma(323;0.157) TATGCTGCTACGGCCAGTAAT 0.413000 18 9 0 0 1 0 0 LEF1-AS1 0 broad.mit.edu 37 4 109098824 109098827 + RNA DEL ACAC ACAC - rs10673865 TCGA-NA-A4QW-01A-11D-A28R-08 TCGA-NA-A4QW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c486c36-01d0-4ff7-9478-19b0104898b1 c0493785-cc4a-4a03-bc34-0e14e890571b g.chr4:109098824_109098827delACAC ENST00000507799.1 + 0 360 LEF1-AS1_ENST00000512129.1_RNA acgcACGTGTacacacacacacac 0.529 2 4 --- --- --- --- ZFR 51663 broad.mit.edu 37 5 32407014 32407015 + In_Frame_Ins INS - - GCA TCGA-NA-A4QW-01A-11D-A28R-08 TCGA-NA-A4QW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c486c36-01d0-4ff7-9478-19b0104898b1 c0493785-cc4a-4a03-bc34-0e14e890571b g.chr5:32407014_32407015insGCA ENST00000265069.8 - 6 998_999 c.896_897insTGC c.(895-897)gac>gTGCac p.299_299D>VH NM_016107.3 NP_057191.2 Q96KR1 ZFR_HUMAN zinc finger RNA binding protein 299 Ala-rich. multicellular organismal development chromosome|cytoplasm|nucleus DNA binding|RNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2) 32 STAD - Stomach adenocarcinoma(35;0.19) AGGCAgctgttgcagcagcagc 0.480 8 53 --- --- --- --- PTENP1 0 broad.mit.edu 37 9 33675365 33675365 + RNA DEL A A - TCGA-NA-A4QW-01A-11D-A28R-08 TCGA-NA-A4QW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c486c36-01d0-4ff7-9478-19b0104898b1 c0493785-cc4a-4a03-bc34-0e14e890571b g.chr9:33675365delA ENST00000532280.1 - 0 2132 NR_023917.1 TATTGCCATTAAAAAAAAAGG 0.323 3 3 --- --- --- --- RP11-262H14.1 0 broad.mit.edu 37 9 66458156 66458157 + RNA INS - - G TCGA-NA-A4QW-01A-11D-A28R-08 TCGA-NA-A4QW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c486c36-01d0-4ff7-9478-19b0104898b1 c0493785-cc4a-4a03-bc34-0e14e890571b g.chr9:66458156_66458157insG ENST00000424345.1 + 0 67 RNA5SP283_ENST00000365604.1_RNA cctacggtaccgctattaccag 0.624 7 16 --- --- --- --- RP11-945A11.1 0 broad.mit.edu 37 11 23762400 23762400 + RNA DEL T T - TCGA-NA-A4QW-01A-11D-A28R-08 TCGA-NA-A4QW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c486c36-01d0-4ff7-9478-19b0104898b1 c0493785-cc4a-4a03-bc34-0e14e890571b g.chr11:23762400delT ENST00000534068.1 + 0 358 agtctggatattaattctttg 0.323 2 4 --- --- --- --- ARCN1 372 broad.mit.edu 37 11 118454048 118454050 + In_Frame_Del DEL AGA AGA - TCGA-NA-A4QW-01A-11D-A28R-08 TCGA-NA-A4QW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c486c36-01d0-4ff7-9478-19b0104898b1 c0493785-cc4a-4a03-bc34-0e14e890571b g.chr11:118454048_118454050delAGA ENST00000359415.4 + 4 710_712 c.545_547delAGA c.(544-549)gag>g p.EK182del ARCN1_ENST00000392859.3_In_Frame_Del_p.EK53del|ARCN1_ENST00000264028.4_In_Frame_Del_p.EK141del|ARCN1_ENST00000534182.2_Intron P48444 COPD_HUMAN archain 1 141 COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER clathrin adaptor complex|COPI vesicle coat|cytosol endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1) 13 all_hematologic(175;0.0349) Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.28e-05) TCTCATGAGGAGAAGGTGTTCAG 0.404 17 25 --- --- --- --- RP11-885B4.2 0 broad.mit.edu 37 12 2877580 2877580 + RNA DEL C C - TCGA-NA-A4QW-01A-11D-A28R-08 TCGA-NA-A4QW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c486c36-01d0-4ff7-9478-19b0104898b1 c0493785-cc4a-4a03-bc34-0e14e890571b g.chr12:2877580delC ENST00000536497.1 - 0 147 RP11-885B4.1_ENST00000540093.1_lincRNA NR_033958.1 gtgaacccctcgaagccaggT 0.557 3 6 --- --- --- --- RP11-897M7.1 0 broad.mit.edu 37 12 131962167 131962168 + RNA INS - - ATA rs148457819 by1000genomes TCGA-NA-A4QW-01A-11D-A28R-08 TCGA-NA-A4QW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c486c36-01d0-4ff7-9478-19b0104898b1 c0493785-cc4a-4a03-bc34-0e14e890571b g.chr12:131962167_131962168insATA ENST00000535133.1 - 0 195 tggtaatggtggtgatgatggt 0.426 4 6 --- --- --- --- FAM20A 54757 broad.mit.edu 37 17 66538939 66538955 + Splice_Site DEL AAGTCCAGAATCCTGCA AAGTCCAGAATCCTGCA - TCGA-NA-A4QW-01A-11D-A28R-08 TCGA-NA-A4QW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c486c36-01d0-4ff7-9478-19b0104898b1 c0493785-cc4a-4a03-bc34-0e14e890571b g.chr17:66538939_66538955delAAGTCCAGAATCCTGCA ENST00000592554.1 - 6 1535_1546 c.812_splice c.e6-1 p.R273_splice PRKAR1A_ENST00000588188.2_Intron|FAM20A_ENST00000226094.5_5'UTR NM_001243746.1|NM_017565.3 NP_001230675.1|NP_060035.2 Q96MK3 FA20A_HUMAN family with sequence similarity 20, member A 273 extracellular region cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1) 9 Breast(10;1.64e-13) CACCCGTCGGAAGTCCAGAATCCTGCAAGAGAGGAAG 0.521 30 45 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11072388 11072389 + RNA INS - - T rs139874484 TCGA-NA-A4QW-01A-11D-A28R-08 TCGA-NA-A4QW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c486c36-01d0-4ff7-9478-19b0104898b1 c0493785-cc4a-4a03-bc34-0e14e890571b g.chr21:11072388_11072389insT ENST00000470054.1 - 0 324 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) tggttcacgccgtgattccagc 0.505 3 6 --- --- --- --- ERVH48-1 0 broad.mit.edu 37 21 44345393 44345393 + RNA DEL C C - rs34233127 TCGA-NA-A4QW-01A-11D-A28R-08 TCGA-NA-A4QW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c486c36-01d0-4ff7-9478-19b0104898b1 c0493785-cc4a-4a03-bc34-0e14e890571b g.chr21:44345393delC ENST00000447535.1 - 0 301 gattttggggctggagaaacc 0.567 6 2 --- --- --- --- TXN2 25828 broad.mit.edu 37 22 36872876 36872876 + Frame_Shift_Del DEL C C - TCGA-NA-A4QW-01A-11D-A28R-08 TCGA-NA-A4QW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c486c36-01d0-4ff7-9478-19b0104898b1 c0493785-cc4a-4a03-bc34-0e14e890571b g.chr22:36872876delC ENST00000216185.2 - 3 757 c.291delG c.(289-291)ggfs p.G97fs TXN2_ENST00000416967.1_5'UTR|TXN2_ENST00000403313.1_Frame_Shift_Del_p.G97fs|TXN2_ENST00000487725.1_5'UTR Q99757 THIOM_HUMAN thioredoxin 2 97 Thioredoxin. cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport mitochondrion|nucleolus electron carrier activity breast(1)|lung(1)|prostate(1) 3 CTAACCTCGGCCCCAGGATCT 0.547 57 147 --- --- --- ---