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 DGAT2L6 347516 broad.mit.edu 37 X 69424320 69424320 + Silent SNP C C T TCGA-VW-A7QS-01A-12D-A33T-08 TCGA-VW-A7QS-10A-02D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 956e5346-11d4-4d05-8ba1-404e24662ec2 3f4313bf-c69c-4fc2-9951-7886601a95db g.chrX:69424320C>T ENST00000333026.3 + 6 913 c.813C>T c.(811-813)cgC>cgT p.R271R NM_198512.1 NP_940914.1 Q6ZPD8 DG2L6_HUMAN diacylglycerol O-acyltransferase 2-like 6 271 lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane acyltransferase activity breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1) 12 GCTTCACTCGCGGATCCTGGG 0.502000 65 86 0 0 1 0 0 FBXO11 80204 broad.mit.edu 37 2 48040489 48040489 + Missense_Mutation SNP A A T TCGA-VW-A7QS-01A-12D-A33T-08 TCGA-VW-A7QS-10A-02D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 956e5346-11d4-4d05-8ba1-404e24662ec2 3f4313bf-c69c-4fc2-9951-7886601a95db g.chr2:48040489A>T ENST00000403359.3 - 18 2183 c.2111T>A c.(2110-2112)aTa>aAa p.I704K FBXO11_ENST00000434523.2_Missense_Mutation_p.I128K|FBXO11_ENST00000316377.4_Missense_Mutation_p.I620K|FBXO11_ENST00000402508.1_Missense_Mutation_p.I620K NM_001190274.1 NP_001177203.1 Q86XK2 FBX11_HUMAN F-box protein 11 704 ubiquitin-dependent protein catabolic process cytoplasm|nucleolus|ubiquitin ligase complex protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding p.0?(2) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 26 Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) ATTGTCAAATATTTCATTGTC 0.294000 """Mis, F, D""" DLBCL 73 140 0 0 1 0 0 PRKCA 5578 broad.mit.edu 37 17 64684479 64684479 + Missense_Mutation SNP G G A TCGA-VW-A7QS-01A-12D-A33T-08 TCGA-VW-A7QS-10A-02D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 956e5346-11d4-4d05-8ba1-404e24662ec2 3f4313bf-c69c-4fc2-9951-7886601a95db g.chr17:64684479G>A ENST00000413366.3 + 7 772 c.746G>A c.(745-747)cGa>cAa p.R249Q NM_002737.2 NP_002728.1 P17252 KPCA_HUMAN protein kinase C, alpha 249 C2. activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 38 BRCA - Breast invasive adenocarcinoma(6;4.68e-09) Phosphatidylserine(DB00144)|Vitamin E(DB00163) GACTGGGATCGAACAACAAGG 0.463000 61 83 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274170 39274170 + Missense_Mutation SNP G G T TCGA-VW-A7QS-01A-12D-A33T-08 TCGA-VW-A7QS-10A-02D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 956e5346-11d4-4d05-8ba1-404e24662ec2 3f4313bf-c69c-4fc2-9951-7886601a95db g.chr17:39274170G>T ENST00000391413.2 - 1 436 c.398C>A c.(397-399)aCc>aAc p.T133N NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 133 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) gtggcagcaggtgggctggca 0.672000 4 82 0.0293803 0.0298061 1 1 0 MYH7 4625 broad.mit.edu 37 14 23889440 23889440 + Missense_Mutation SNP G G A TCGA-VW-A7QS-01A-12D-A33T-08 TCGA-VW-A7QS-10A-02D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 956e5346-11d4-4d05-8ba1-404e24662ec2 3f4313bf-c69c-4fc2-9951-7886601a95db g.chr14:23889440G>A ENST00000355349.3 - 27 3502 c.3340C>T c.(3340-3342)Cgc>Tgc p.R1114C NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1114 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) tcctcGATGCGTGCCTGGTCA 0.637000 3 49 0 0 1 0 0 GALNT3 2591 broad.mit.edu 37 2 166615936 166615936 + Missense_Mutation SNP C C T TCGA-VW-A7QS-01A-12D-A33T-08 TCGA-VW-A7QS-10A-02D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 956e5346-11d4-4d05-8ba1-404e24662ec2 3f4313bf-c69c-4fc2-9951-7886601a95db g.chr2:166615936C>T ENST00000392701.3 - 5 1758 c.983G>A c.(982-984)cGt>cAt p.R328H GALNT3_ENST00000409882.1_Missense_Mutation_p.R66H NM_004482.3 NP_004473.2 Q14435 GALT3_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3) 328 protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1) 20 AAAATTTCCACGGTTATGGTT 0.413000 46 59 0 0 1 0 0 GLRA3 8001 broad.mit.edu 37 4 175603980 175603980 + Nonsense_Mutation SNP G G A TCGA-VW-A7QS-01A-12D-A33T-08 TCGA-VW-A7QS-10A-02D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 956e5346-11d4-4d05-8ba1-404e24662ec2 3f4313bf-c69c-4fc2-9951-7886601a95db g.chr4:175603980G>A ENST00000274093.3 - 6 1187 c.685C>T c.(685-687)Cga>Tga p.R229* GLRA3_ENST00000340217.5_Nonsense_Mutation_p.R229* NM_006529.2 NP_006520.2 O75311 GLRA3_HUMAN glycine receptor, alpha 3 229 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 35 Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107) all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421) Glycine(DB00145) GTGCAGTATCGTAAATCTTTT 0.368000 56 62 0 0 1 0 0 TUBBP5 0 broad.mit.edu 37 9 141070071 141070071 + RNA SNP G G A TCGA-VW-A7QS-01A-12D-A33T-08 TCGA-VW-A7QS-10A-02D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 956e5346-11d4-4d05-8ba1-404e24662ec2 3f4313bf-c69c-4fc2-9951-7886601a95db g.chr9:141070071G>A ENST00000503395.1 + 0 1151 TACGTGCCCCGCGCTGTGCTC 0.706000 34 61 0 0 1 0 0 SACS 26278 broad.mit.edu 37 13 23909715 23909715 + Missense_Mutation SNP C C T TCGA-VW-A7QS-01A-12D-A33T-08 TCGA-VW-A7QS-10A-02D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 956e5346-11d4-4d05-8ba1-404e24662ec2 3f4313bf-c69c-4fc2-9951-7886601a95db g.chr13:23909715C>T ENST00000382298.3 - 10 8888 c.8300G>A c.(8299-8301)gGc>gAc p.G2767D SACS_ENST00000382292.3_Missense_Mutation_p.G2767D|SACS_ENST00000402364.1_Missense_Mutation_p.G2017D NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 2767 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) TGTGATTTTGCCCTTTACTGA 0.348000 4 206 0 0 1 0 0 MYO5B 4645 broad.mit.edu 37 18 47369674 47369674 + Silent SNP G G A TCGA-VW-A7QS-01A-12D-A33T-08 TCGA-VW-A7QS-10A-02D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 956e5346-11d4-4d05-8ba1-404e24662ec2 3f4313bf-c69c-4fc2-9951-7886601a95db g.chr18:47369674G>A ENST00000285039.7 - 34 4847 c.4548C>T c.(4546-4548)aaC>aaT p.N1516N MYO5B_ENST00000324581.6_Silent_p.N631N|SCARNA17_ENST00000589499.1_RNA|MYO5B_ENST00000592688.1_Silent_p.N86N NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 1516 protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) TGAGATCGTCGTTGGTGTAGT 0.567000 64 72 0 0 1 0 0 DCHS1 8642 broad.mit.edu 37 11 6644395 6644395 + Missense_Mutation SNP T T C TCGA-VW-A7QS-01A-12D-A33T-08 TCGA-VW-A7QS-10A-02D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 956e5346-11d4-4d05-8ba1-404e24662ec2 3f4313bf-c69c-4fc2-9951-7886601a95db g.chr11:6644395T>C ENST00000299441.3 - 21 8923 c.8512A>G c.(8512-8514)Aca>Gca p.T2838A NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 2838 Cadherin 27. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCCTCATCTGTGGCCTGCACG 0.572000 13 18 0 0 1 0 0 RGAG1 57529 broad.mit.edu 37 X 109694736 109694736 + Silent SNP G G A TCGA-VW-A7QS-01A-12D-A33T-08 TCGA-VW-A7QS-10A-02D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 956e5346-11d4-4d05-8ba1-404e24662ec2 3f4313bf-c69c-4fc2-9951-7886601a95db g.chrX:109694736G>A ENST00000465301.2 + 3 1137 c.891G>A c.(889-891)ccG>ccA p.P297P RGAG1_ENST00000540313.1_Silent_p.P297P NM_020769.2 NP_065820.1 Q8NET4 RGAG1_HUMAN retrotransposon gag domain containing 1 297 NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 TACCTACCCCGCTCATGTCAG 0.483000 5 431 0 0 1 0 0 ARHGEF18 23370 broad.mit.edu 37 19 7528785 7528785 + Missense_Mutation SNP C C T rs149572002 TCGA-VW-A7QS-01A-12D-A33T-08 TCGA-VW-A7QS-10A-02D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 956e5346-11d4-4d05-8ba1-404e24662ec2 3f4313bf-c69c-4fc2-9951-7886601a95db g.chr19:7528785C>T ENST00000359920.6 + 12 2406 c.2153C>T c.(2152-2154)cCg>cTg p.P718L ARHGEF18_ENST00000319670.9_Missense_Mutation_p.P560L|CTD-2207O23.3_ENST00000593531.1_Missense_Mutation_p.R676C NM_001130955.1 NP_001124427.1 Q6ZSZ5 ARHGI_HUMAN Rho/Rac guanine nucleotide exchange factor (GEF) 18 718 actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1) 23 Renal(5;0.0902) TCCACAGGCCCGCCCAGGAGG 0.682000 10 12 0 0 1 0 0 KALRN 8997 broad.mit.edu 37 3 124418865 124418865 + Nonsense_Mutation SNP C C T TCGA-VW-A7QS-01A-12D-A33T-08 TCGA-VW-A7QS-10A-02D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 956e5346-11d4-4d05-8ba1-404e24662ec2 3f4313bf-c69c-4fc2-9951-7886601a95db g.chr3:124418865C>T ENST00000360013.3 + 56 8108 c.7981C>T c.(7981-7983)Cga>Tga p.R2661* KALRN_ENST00000291478.4_Nonsense_Mutation_p.R964*|KALRN_ENST00000428018.2_Nonsense_Mutation_p.R932* NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 2660 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 GGAGTTTGTGCGACTTCCAGA 0.597000 4 244 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53856761 53856761 + Missense_Mutation SNP T T C TCGA-VW-A7QS-01A-12D-A33T-08 TCGA-VW-A7QS-10A-02D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 956e5346-11d4-4d05-8ba1-404e24662ec2 3f4313bf-c69c-4fc2-9951-7886601a95db g.chr19:53856761T>C ENST00000458035.1 + 4 2950 c.2833T>C c.(2833-2835)Tgt>Cgt p.C945R ZNF845_ENST00000595091.1_Missense_Mutation_p.C945R NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 945 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.C945R(1) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 ACCTTACAAGTGTAATGAATG 0.348000 4 22 0 0 1 0 0 TLR5 7100 broad.mit.edu 37 1 223285750 223285750 + Silent SNP C C T TCGA-VW-A7QS-01A-12D-A33T-08 TCGA-VW-A7QS-10A-02D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 956e5346-11d4-4d05-8ba1-404e24662ec2 3f4313bf-c69c-4fc2-9951-7886601a95db g.chr1:223285750C>T ENST00000540964.1 - 4 1085 c.624G>A c.(622-624)ttG>ttA p.L208L TLR5_ENST00000342210.6_Silent_p.L208L O60602 TLR5_HUMAN toll-like receptor 5 208 cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway integral to membrane|plasma membrane interleukin-1 receptor binding|transmembrane receptor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 GBM - Glioblastoma multiforme(131;0.0851) CTCTGCTATACAAGCTATTAG 0.443000 66 93 0 0 1 0 0 NINL 22981 broad.mit.edu 37 20 25507065 25507065 + Silent SNP G G T rs142387243 TCGA-VW-A7QS-01A-12D-A33T-08 TCGA-VW-A7QS-10A-02D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 956e5346-11d4-4d05-8ba1-404e24662ec2 3f4313bf-c69c-4fc2-9951-7886601a95db g.chr20:25507065G>T ENST00000278886.6 - 2 232 c.159C>A c.(157-159)ctC>ctA p.L53L NINL_ENST00000422516.1_Silent_p.L53L NM_025176.4 NP_079452.3 Q9Y2I6 NINL_HUMAN ninein-like 53 EF-hand 2. G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 GGTCGTTTCCGAGAAGCGTCT 0.542000 108 165 7.5252e-50 8.10406e-50 1 1 0 MIR1185-2 0 broad.mit.edu 37 14 101510545 101510545 + RNA SNP A A T TCGA-VW-A7QS-01A-12D-A33T-08 TCGA-VW-A7QS-10A-02D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 956e5346-11d4-4d05-8ba1-404e24662ec2 3f4313bf-c69c-4fc2-9951-7886601a95db g.chr14:101510545A>T ENST00000408687.1 + 0 11 NR_031571.1 TTTGGTACTTAAAGAGAGGAT 0.522000 5 140 0 0 1 0 0 PCDHGA3 0 broad.mit.edu 37 5 140723837 140723837 + Silent SNP G G A TCGA-VW-A7QS-01A-12D-A33T-08 TCGA-VW-A7QS-10A-02D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 956e5346-11d4-4d05-8ba1-404e24662ec2 3f4313bf-c69c-4fc2-9951-7886601a95db g.chr5:140723837G>A ENST00000253812.6 + 1 237 c.237G>A c.(235-237)ccG>ccA p.P79P PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018916.3|NM_032011.1 NP_061739.2|NP_114400.1 breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCTGAATCCGCAAAGCGGCA 0.587000 OREG0016855 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 220 0 0 1 0 0 CRLF2 64109 broad.mit.edu 37 X 1325396 1325396 + Silent SNP G G A TCGA-VW-A7QS-01A-12D-A33T-08 TCGA-VW-A7QS-10A-02D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 956e5346-11d4-4d05-8ba1-404e24662ec2 3f4313bf-c69c-4fc2-9951-7886601a95db g.chrX:1325396G>A ENST00000381567.3 - 3 278 c.279C>T c.(277-279)gaC>gaT p.D93D CRLF2_ENST00000467626.1_5'UTR|CRLF2_ENST00000381566.1_Silent_p.D93D NM_022148.2 NP_071431.2 Q9HC73 CRLF2_HUMAN cytokine receptor-like factor 2 93 extracellular region|integral to membrane|plasma membrane receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9) 20 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) AATAGAGAATGTCGTCTCGCT 0.517000 """Mis, T""" """P2RY8, IGH@""" """B-ALL, Downs associated ALL""" 25 189 0 0 1 0 0 UNKL 64718 broad.mit.edu 37 16 1451675 1451675 + Silent SNP C C T TCGA-VW-A7QS-01A-12D-A33T-08 TCGA-VW-A7QS-10A-02D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 956e5346-11d4-4d05-8ba1-404e24662ec2 3f4313bf-c69c-4fc2-9951-7886601a95db g.chr16:1451675C>T ENST00000389221.4 - 4 491 c.492G>A c.(490-492)caG>caA p.Q164Q UNKL_ENST00000397462.1_Silent_p.Q251Q|UNKL_ENST00000508903.2_Silent_p.Q164Q|UNKL_ENST00000301712.5_Silent_p.Q164Q|UNKL_ENST00000503648.1_5'UTR NM_001193388.1 NP_001180317.1 Q9H9P5 UNKL_HUMAN unkempt family zinc finger-like 164 cytoplasm|nucleus ligase activity|nucleic acid binding|zinc ion binding autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(1) 4 Hepatocellular(780;0.0893) GCTGGCCGTTCTGCAAGGCTT 0.647000 3 61 0 0 1 0 0 SLC26A4 5172 broad.mit.edu 37 7 107340552 107340552 + Missense_Mutation SNP A A C TCGA-VW-A7QS-01A-12D-A33T-08 TCGA-VW-A7QS-10A-02D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 956e5346-11d4-4d05-8ba1-404e24662ec2 3f4313bf-c69c-4fc2-9951-7886601a95db g.chr7:107340552A>C ENST00000265715.3 + 15 1863 c.1639A>C c.(1639-1641)Att>Ctt p.I547L SLC26A4_ENST00000544569.1_Missense_Mutation_p.I134L|SLC26A4_ENST00000541474.1_Missense_Mutation_p.I108L|SLC26A4_ENST00000480841.1_3'UTR|SLC26A4_ENST00000543100.1_Missense_Mutation_p.I116L NM_000441.1 NP_000432.1 O43511 S26A4_HUMAN solute carrier family 26 (anion exchanger), member 4 547 STAS. regulation of pH|regulation of protein localization|sensory perception of sound apical plasma membrane|integral to membrane chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 AGGAGTGAAGATTCTTAGATT 0.318000 Pendred syndrome 55 121 0 0 1 0 0 AMOT 154796 broad.mit.edu 37 X 112058796 112058796 + Silent SNP C C T TCGA-VW-A7QS-01A-12D-A33T-08 TCGA-VW-A7QS-10A-02D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 956e5346-11d4-4d05-8ba1-404e24662ec2 3f4313bf-c69c-4fc2-9951-7886601a95db g.chrX:112058796C>T ENST00000371959.3 - 2 1181 c.1182G>A c.(1180-1182)caG>caA p.Q394Q AMOT_ENST00000371962.1_Silent_p.Q162Q|AMOT_ENST00000304758.1_5'UTR|AMOT_ENST00000371958.1_Silent_p.Q162Q|AMOT_ENST00000524145.1_Silent_p.Q394Q NM_001113490.1 NP_001106962.1 Q4VCS5 AMOT_HUMAN angiomotin 394 actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction angiostatin binding|protein binding|receptor activity p.Q394Q(1) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 43 gctgctgctgctgttgttggt 0.582000 4 99 0 0 1 0 0 RNASE13 440163 broad.mit.edu 37 14 21502144 21502144 + Missense_Mutation SNP G G C TCGA-VW-A7QS-01A-12D-A33T-08 TCGA-VW-A7QS-10A-02D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 956e5346-11d4-4d05-8ba1-404e24662ec2 3f4313bf-c69c-4fc2-9951-7886601a95db g.chr14:21502144G>C ENST00000382951.3 - 2 441 c.304C>G c.(304-306)Ctc>Gtc p.L102V NDRG2_ENST00000403829.3_Intron NM_001012264.3 NP_001012264.1 Q5GAN3 RNS13_HUMAN ribonuclease, RNase A family, 13 (non-active) 102 extracellular region nucleic acid binding|pancreatic ribonuclease activity cervix(1)|endometrium(1)|lung(5)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 12 all_cancers(95;0.000759) OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08) GBM - Glioblastoma multiforme(265;0.019) TCCTGGGTGAGTGTGCAGTAT 0.498000 94 129 0 0 1 0 0 NOTCH1 4851 broad.mit.edu 37 9 139412664 139412664 + Missense_Mutation SNP C C A TCGA-VW-A7QS-01A-12D-A33T-08 TCGA-VW-A7QS-10A-02D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 956e5346-11d4-4d05-8ba1-404e24662ec2 3f4313bf-c69c-4fc2-9951-7886601a95db g.chr9:139412664C>A ENST00000277541.6 - 7 1255 c.1180G>T c.(1180-1182)Ggc>Tgc p.G394C NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 394 EGF-like 10. aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) ATGGCCTTGCCATTGACAGGG 0.667000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 9 14 0.00448238 0.00461422 1 1 0 CX3CL1 6376 broad.mit.edu 37 16 57416150 57416150 + Missense_Mutation SNP G G A TCGA-VW-A7QS-01A-12D-A33T-08 TCGA-VW-A7QS-10A-02D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 956e5346-11d4-4d05-8ba1-404e24662ec2 3f4313bf-c69c-4fc2-9951-7886601a95db g.chr16:57416150G>A ENST00000565912.1 + 2 2992 c.286G>A c.(286-288)Gaa>Aaa p.E96K CX3CL1_ENST00000006053.6_Missense_Mutation_p.E134K|CX3CL1_ENST00000564948.1_3'UTR|CX3CL1_ENST00000563383.1_Missense_Mutation_p.E140K P78423 X3CL1_HUMAN chemokine (C-X3-C motif) ligand 1 134 Chemokine. cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response cell surface|extracellular space|integral to membrane|plasma membrane chemokine activity breast(1)|endometrium(1)|large_intestine(1)|lung(2) 5 AGCCACAGGCGAAAGCAGTAG 0.667000 4 114 0 0 1 0 0 MAST4 375449 broad.mit.edu 37 5 66459037 66459037 + Missense_Mutation SNP G G A TCGA-VW-A7QS-01A-12D-A33T-08 TCGA-VW-A7QS-10A-02D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 956e5346-11d4-4d05-8ba1-404e24662ec2 3f4313bf-c69c-4fc2-9951-7886601a95db g.chr5:66459037G>A ENST00000404260.3 + 29 4347 c.4039G>A c.(4039-4041)Ggg>Agg p.G1347R MAST4_ENST00000403625.2_Missense_Mutation_p.G1344R|MAST4_ENST00000405643.1_Missense_Mutation_p.G1165R|MAST4_ENST00000403666.1_Missense_Mutation_p.G1155R|MAST4_ENST00000261569.7_Missense_Mutation_p.G1150R O15021 MAST4_HUMAN microtubule associated serine/threonine kinase family member 4 1347 cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) AGCAGGGTCCGGGCACATCCG 0.612000 28 333 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152425801 152425801 + Missense_Mutation SNP G G A TCGA-VW-A7QS-01A-12D-A33T-08 TCGA-VW-A7QS-10A-02D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 956e5346-11d4-4d05-8ba1-404e24662ec2 3f4313bf-c69c-4fc2-9951-7886601a95db g.chr2:152425801G>A ENST00000397345.3 - 110 17718 c.17516C>T c.(17515-17517)gCc>gTc p.A5839V NEB_ENST00000172853.10_Missense_Mutation_p.A4138V|NEB_ENST00000427231.2_Missense_Mutation_p.A5839V|NEB_ENST00000409198.1_Missense_Mutation_p.A4138V|NEB_ENST00000603639.1_Missense_Mutation_p.A5839V|NEB_ENST00000604864.1_Missense_Mutation_p.A5839V NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 5858 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) GATGTCCGCGGCATGTTTGGC 0.433000 44 53 0 0 1 0 0 WNK1 65125 broad.mit.edu 37 12 936450 936450 + Missense_Mutation SNP G G T TCGA-VW-A7QS-01A-12D-A33T-08 TCGA-VW-A7QS-10A-02D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 956e5346-11d4-4d05-8ba1-404e24662ec2 3f4313bf-c69c-4fc2-9951-7886601a95db g.chr12:936450G>T ENST00000447667.2 + 3 1685 c.1175G>T c.(1174-1176)gGa>gTa p.G392V WNK1_ENST00000537687.1_Intron|WNK1_ENST00000535572.1_Intron|WNK1_ENST00000530271.2_Intron|WNK1_ENST00000315939.6_Intron Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 0 Protein kinase. intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 104 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) GTGTACCTTGGAGCCTGACTG 0.453000 10 122 0.000442599 0.000462417 1 1 0 B3GALNT2 148789 broad.mit.edu 37 1 235617570 235617570 + Silent SNP C C T TCGA-VW-A7QS-01A-12D-A33T-08 TCGA-VW-A7QS-10A-02D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 956e5346-11d4-4d05-8ba1-404e24662ec2 3f4313bf-c69c-4fc2-9951-7886601a95db g.chr1:235617570C>T ENST00000366600.3 - 10 1437 c.1209G>A c.(1207-1209)ccG>ccA p.P403P NM_152490.2 NP_689703.1 Q8NCR0 B3GL2_HUMAN beta-1,3-N-acetylgalactosaminyltransferase 2 403 protein glycosylation Golgi membrane|integral to membrane galactosyltransferase activity NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 18 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.0539)|Prostate(94;0.0353) OV - Ovarian serous cystadenocarcinoma(106;0.000117) AAGCGGGGCTCGGGTACTCCA 0.507000 54 124 0 0 1 0 0 PARP3 10039 broad.mit.edu 37 3 51979052 51979052 + Nonsense_Mutation SNP C C T TCGA-VW-A7QS-01A-12D-A33T-08 TCGA-VW-A7QS-10A-02D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 956e5346-11d4-4d05-8ba1-404e24662ec2 3f4313bf-c69c-4fc2-9951-7886601a95db g.chr3:51979052C>T ENST00000417220.2 + 7 1161 c.673C>T c.(673-675)Cag>Tag p.Q225* PARP3_ENST00000431474.1_Nonsense_Mutation_p.Q225*|PARP3_ENST00000398755.3_Nonsense_Mutation_p.Q232* Q9Y6F1 PARP3_HUMAN poly (ADP-ribose) polymerase family, member 3 225 PARP alpha-helical. DNA repair|protein ADP-ribosylation centriole|nucleus NAD+ ADP-ribosyltransferase activity|protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) GAGCAAGCAACAGATTGCACG 0.627000 48 76 0 0 1 0 0 SLC9A2 6549 broad.mit.edu 37 2 103317573 103317573 + Missense_Mutation SNP G G A TCGA-VW-A7QS-01A-12D-A33T-08 TCGA-VW-A7QS-10A-02D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 956e5346-11d4-4d05-8ba1-404e24662ec2 3f4313bf-c69c-4fc2-9951-7886601a95db g.chr2:103317573G>A ENST00000233969.2 + 8 1773 c.1631G>A c.(1630-1632)cGg>cAg p.R544Q SLC9A2_ENST00000469286.1_3'UTR NM_003048.3 NP_003039.2 Q9UBY0 SL9A2_HUMAN solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2 544 integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 CTTTTGATTCGGGAAAACCAA 0.318000 98 127 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-VW-A7QS-01A-12D-A33T-08 TCGA-VW-A7QS-10A-02D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 956e5346-11d4-4d05-8ba1-404e24662ec2 3f4313bf-c69c-4fc2-9951-7886601a95db g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 63 101 0 0 1 0 0 MYCBP2 23077 broad.mit.edu 37 13 77667377 77667377 + Silent SNP C C T TCGA-VW-A7QS-01A-12D-A33T-08 TCGA-VW-A7QS-10A-02D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 956e5346-11d4-4d05-8ba1-404e24662ec2 3f4313bf-c69c-4fc2-9951-7886601a95db g.chr13:77667377C>T ENST00000407578.2 - 59 10556 c.10290G>A c.(10288-10290)ccG>ccA p.P3430P MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000357337.6_Silent_p.P3392P|MYCBP2_ENST00000544440.2_Silent_p.P3392P NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 3392 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) CTGATATATACGGGGCAGGTA 0.393000 116 143 0 0 1 0 0 ZHX3 23051 broad.mit.edu 37 20 39832611 39832611 + Missense_Mutation SNP T T C TCGA-VW-A7QS-01A-12D-A33T-08 TCGA-VW-A7QS-10A-02D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 956e5346-11d4-4d05-8ba1-404e24662ec2 3f4313bf-c69c-4fc2-9951-7886601a95db g.chr20:39832611T>C ENST00000309060.3 - 4 1361 c.946A>G c.(946-948)Aac>Gac p.N316D ZHX3_ENST00000540170.1_Missense_Mutation_p.N316D|ZHX3_ENST00000560361.1_Missense_Mutation_p.N316D|ZHX3_ENST00000559234.1_Missense_Mutation_p.N316D|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000544979.2_Missense_Mutation_p.N316D|ZHX3_ENST00000432768.2_Missense_Mutation_p.N316D Q9H4I2 ZHX3_HUMAN zinc fingers and homeoboxes 3 316 Required for homodimerization and interaction with NFYA.|Required for repressor activity. negative regulation of transcription, DNA-dependent cytoplasm|nucleolus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 Myeloproliferative disorder(115;0.00425) AGGAAGCTGTTAGAGTCCATG 0.537000 16 122 0 0 1 0 0 OR10X1 128367 broad.mit.edu 37 1 158549195 158549195 + Silent SNP G G A TCGA-VW-A7QS-01A-12D-A33T-08 TCGA-VW-A7QS-10A-02D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 956e5346-11d4-4d05-8ba1-404e24662ec2 3f4313bf-c69c-4fc2-9951-7886601a95db g.chr1:158549195G>A ENST00000368150.1 - 1 494 c.495C>T c.(493-495)tgC>tgT p.C165C NM_001004477.1 NP_001004477.1 Q8NGY0 O10X1_HUMAN olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene) 165 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1) 37 all_hematologic(112;0.0378) AGCCTGCAGTGCAAGCAGAGG 0.468000 9 63 0 0 1 0 0 SH3KBP1 30011 broad.mit.edu 37 X 19713826 19713826 + Missense_Mutation SNP C C A TCGA-VW-A7QS-01A-12D-A33T-08 TCGA-VW-A7QS-10A-02D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 956e5346-11d4-4d05-8ba1-404e24662ec2 3f4313bf-c69c-4fc2-9951-7886601a95db g.chrX:19713826C>A ENST00000397821.3 - 5 714 c.424G>T c.(424-426)Ggg>Tgg p.G142W SH3KBP1_ENST00000379697.3_Missense_Mutation_p.G142W|SH3KBP1_ENST00000379698.4_Missense_Mutation_p.G105W NM_031892.2 NP_114098.1 Q96B97 SH3K1_HUMAN SH3-domain kinase binding protein 1 142 SH3 2. apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome SH3 domain binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4) 29 CCAGTCTTCCCGTTGAGAACA 0.473000 13 224 0.000219431 0.00023273 1 1 0 RP11-48B14.2 0 broad.mit.edu 37 17 3593419 3593419 + Missense_Mutation SNP C C A TCGA-VW-A7QS-01A-12D-A33T-08 TCGA-VW-A7QS-10A-02D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 956e5346-11d4-4d05-8ba1-404e24662ec2 3f4313bf-c69c-4fc2-9951-7886601a95db g.chr17:3593419C>A ENST00000550383.1 - 6 747 c.559G>T c.(559-561)Gac>Tac p.D187Y P2RX5_ENST00000345901.3_Missense_Mutation_p.D163Y|P2RX5_ENST00000552276.1_Missense_Mutation_p.D187Y|P2RX5_ENST00000225328.5_Missense_Mutation_p.D187Y|P2RX5_ENST00000552050.1_Missense_Mutation_p.D127Y|P2RX5_ENST00000551178.1_Missense_Mutation_p.D163Y|P2RX5_ENST00000550772.1_5'UTR|P2RX5_ENST00000547178.1_Missense_Mutation_p.D187Y|P2RX5_ENST00000435558.1_Missense_Mutation_p.D187Y ATGGTGAAGTCTTCGGCCTCC 0.587000 5 497 0.217242 0.217242 1 1 0 ZSWIM4 65249 broad.mit.edu 37 19 13941471 13941471 + Silent SNP G G A TCGA-VW-A7QS-01A-12D-A33T-08 TCGA-VW-A7QS-10A-02D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 956e5346-11d4-4d05-8ba1-404e24662ec2 3f4313bf-c69c-4fc2-9951-7886601a95db g.chr19:13941471G>A ENST00000254323.2 + 13 2766 c.2577G>A c.(2575-2577)cgG>cgA p.R859R ZSWIM4_ENST00000440752.2_Silent_p.R693R NM_023072.2 NP_075560.2 Q9H7M6 ZSWM4_HUMAN zinc finger, SWIM-type containing 4 859 zinc ion binding central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19) CCCTGGGCCGGCACGAGCTCT 0.657000 5 370 0 0 1 0 0 C3P1 0 broad.mit.edu 37 19 10158049 10158049 + RNA SNP A A G TCGA-VW-A7QS-01A-12D-A33T-08 TCGA-VW-A7QS-10A-02D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 956e5346-11d4-4d05-8ba1-404e24662ec2 3f4313bf-c69c-4fc2-9951-7886601a95db g.chr19:10158049A>G ENST00000495140.1 + 0 1257 endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1) 13 TTCTTTGTGGACCTTAAGTTG 0.532000 49 242 0 0 1 0 0 OR51G2 81282 broad.mit.edu 37 11 4936857 4936857 + Missense_Mutation SNP C C T TCGA-VW-A7QS-01A-12D-A33T-08 TCGA-VW-A7QS-10A-02D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 956e5346-11d4-4d05-8ba1-404e24662ec2 3f4313bf-c69c-4fc2-9951-7886601a95db g.chr11:4936857C>T ENST00000322013.3 - 1 65 c.37G>A c.(37-39)Gtt>Att p.V13I MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001005238.1 NP_001005238.1 Q8NGK0 O51G2_HUMAN olfactory receptor, family 51, subfamily G, member 2 13 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) GTAGCAGAAACGCTGCTGCTG 0.557000 49 60 0 0 1 0 0 ZNF558 148156 broad.mit.edu 37 19 8923829 8923829 + Missense_Mutation SNP C C G TCGA-VW-A7QS-01A-12D-A33T-08 TCGA-VW-A7QS-10A-02D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 956e5346-11d4-4d05-8ba1-404e24662ec2 3f4313bf-c69c-4fc2-9951-7886601a95db g.chr19:8923829C>G ENST00000601372.1 - 8 1028 c.317G>C c.(316-318)aGa>aCa p.R106T ZNF558_ENST00000444186.2_Missense_Mutation_p.R35T|ZNF558_ENST00000301475.1_Missense_Mutation_p.R106T Q96NG5 ZN558_HUMAN zinc finger protein 558 106 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1) 15 TAGAATTCCTCTTTCCTCTGT 0.463000 11 8 0 0 1 0 0 REV3L 5980 broad.mit.edu 37 6 111694039 111694039 + Missense_Mutation SNP T T C TCGA-VW-A7QS-01A-12D-A33T-08 TCGA-VW-A7QS-10A-02D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 956e5346-11d4-4d05-8ba1-404e24662ec2 3f4313bf-c69c-4fc2-9951-7886601a95db g.chr6:111694039T>C ENST00000435970.1 - 15 6101 c.5285A>G c.(5284-5286)tAt>tGt p.Y1762C REV3L_ENST00000358835.3_Missense_Mutation_p.Y1840C|REV3L_ENST00000368802.3_Missense_Mutation_p.Y1840C|REV3L_ENST00000368805.1_Missense_Mutation_p.Y1840C O60673 DPOLZ_HUMAN REV3-like, polymerase (DNA directed), zeta, catalytic subunit 1840 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 88 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) TCTTGAAACATACAGTTCTAA 0.433000 DNA polymerases (catalytic subunits) 4 347 0 0 1 0 0 FNIP1 96459 broad.mit.edu 37 5 131046325 131046325 + Missense_Mutation SNP C C T TCGA-VW-A7QS-01A-12D-A33T-08 TCGA-VW-A7QS-10A-02D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 956e5346-11d4-4d05-8ba1-404e24662ec2 3f4313bf-c69c-4fc2-9951-7886601a95db g.chr5:131046325C>T ENST00000307954.8 - 6 545 c.517G>A c.(517-519)Gca>Aca p.A173T FNIP1_ENST00000511848.1_Missense_Mutation_p.A218T|FNIP1_ENST00000307968.7_Intron|FNIP1_ENST00000510461.1_Missense_Mutation_p.A218T|FNIP1_ENST00000514667.1_Intron folliculin interacting protein 1 NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0665) TCAGAGAATGCCCGCCTGGGG 0.522000 3 49 0 0 1 0 0 HELLS 3070 broad.mit.edu 37 10 96334429 96334429 + Missense_Mutation SNP T T C TCGA-VW-A7QS-01A-12D-A33T-08 TCGA-VW-A7QS-10A-02D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 956e5346-11d4-4d05-8ba1-404e24662ec2 3f4313bf-c69c-4fc2-9951-7886601a95db g.chr10:96334429T>C ENST00000348459.5 + 9 929 c.824T>C c.(823-825)cTt>cCt p.L275P HELLS_ENST00000394045.1_Missense_Mutation_p.L275P|HELLS_ENST00000394044.1_Missense_Mutation_p.L275P|HELLS_ENST00000371332.4_Missense_Mutation_p.L275P|HELLS_ENST00000394036.1_3'UTR|HELLS_ENST00000239026.6_3'UTR NM_018063.3 NP_060533.2 Q9NRZ9 HELLS_HUMAN helicase, lymphoid-specific 275 Helicase ATP-binding. cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent centromeric heterochromatin|nucleus ATP binding|DNA binding|helicase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 22 Colorectal(252;0.0429) all cancers(201;2.13e-05) GGACCTTTTCTTGTCTGTGGC 0.373000 65 240 0 0 1 0 0 DNM1P47 0 broad.mit.edu 37 15 102292765 102292765 + RNA SNP C C T TCGA-VW-A7QS-01A-12D-A33T-08 TCGA-VW-A7QS-10A-02D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 956e5346-11d4-4d05-8ba1-404e24662ec2 3f4313bf-c69c-4fc2-9951-7886601a95db g.chr15:102292765C>T ENST00000561463.1 + 0 811 GGCACAGCGGCGCGACGAGAT 0.602000 5 80 0 0 1 0 0 HTR3A 3359 broad.mit.edu 37 11 113857553 113857553 + Missense_Mutation SNP A A C TCGA-VW-A7QS-01A-12D-A33T-08 TCGA-VW-A7QS-10A-02D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 956e5346-11d4-4d05-8ba1-404e24662ec2 3f4313bf-c69c-4fc2-9951-7886601a95db g.chr11:113857553A>C ENST00000504030.2 + 8 1368 c.923A>C c.(922-924)tAc>tCc p.Y308S HTR3A_ENST00000355556.2_Missense_Mutation_p.Y346S|HTR3A_ENST00000535865.1_Missense_Mutation_p.Y52S|HTR3A_ENST00000506841.2_Missense_Mutation_p.Y340S|HTR3A_ENST00000299961.5_Missense_Mutation_p.Y293S|HTR3A_ENST00000375498.2_Missense_Mutation_p.Y314S P46098 5HT3A_HUMAN 5-hydroxytryptamine (serotonin) receptor 3A, ionotropic 308 digestion|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 36 all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191) Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199) ACAGGTGTCTACTTTGTGGTG 0.602000 22 156 0 0 1 0 0 F2RL3 9002 broad.mit.edu 37 19 17000696 17000696 + Missense_Mutation SNP G G A TCGA-VW-A7QS-01A-12D-A33T-08 TCGA-VW-A7QS-10A-02D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 956e5346-11d4-4d05-8ba1-404e24662ec2 3f4313bf-c69c-4fc2-9951-7886601a95db g.chr19:17000696G>A ENST00000248076.3 + 2 752 c.422G>A c.(421-423)cGc>cAc p.R141H F2RL3_ENST00000599210.1_3'UTR NM_003950.2 NP_003941.2 Q96RI0 PAR4_HUMAN coagulation factor II (thrombin) receptor-like 3 141 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol extracellular region|integral to plasma membrane thrombin receptor activity cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 7 CGTGGCCAGCGCTGGCCCTTC 0.711000 17 15 0 0 1 0 0 ZNF462 58499 broad.mit.edu 37 9 109691748 109691748 + Missense_Mutation SNP T T G TCGA-VW-A7QS-01A-12D-A33T-08 TCGA-VW-A7QS-10A-02D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 956e5346-11d4-4d05-8ba1-404e24662ec2 3f4313bf-c69c-4fc2-9951-7886601a95db g.chr9:109691748T>G ENST00000277225.5 + 3 5844 c.5555T>G c.(5554-5556)tTc>tGc p.F1852C ZNF462_ENST00000457913.1_Missense_Mutation_p.F1852C|ZNF462_ENST00000441147.2_Missense_Mutation_p.F697C Q96JM2 ZN462_HUMAN zinc finger protein 462 1852 transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 ATCAAATGCTTCAAGCTGTCC 0.532000 9 131 0 0 1 0 0 CLCN3 0 broad.mit.edu 37 4 170610267 170610267 + Silent SNP G G A TCGA-VW-A7QS-01A-12D-A33T-08 TCGA-VW-A7QS-10A-02D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 956e5346-11d4-4d05-8ba1-404e24662ec2 3f4313bf-c69c-4fc2-9951-7886601a95db g.chr4:170610267G>A ENST00000513761.1 + 5 1051 c.492G>A c.(490-492)gcG>gcA p.A164A CLCN3_ENST00000360642.3_Silent_p.A164A|CLCN3_ENST00000504131.2_Silent_p.A147A|CLCN3_ENST00000347613.4_Silent_p.A164A NM_001829.3 NP_001820.2 P51790 CLCN3_HUMAN chloride channel, voltage-sensitive 3 164 endosomal lumen acidification cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 29 Prostate(90;0.00601)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131) GCCTTAGTGCGTTGTGGTACA 0.438000 79 88 0 0 1 0 0 MTOR 2475 broad.mit.edu 37 1 11182158 11182158 + Missense_Mutation SNP A A C TCGA-VW-A7QS-01A-12D-A33T-08 TCGA-VW-A7QS-10A-02D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 956e5346-11d4-4d05-8ba1-404e24662ec2 3f4313bf-c69c-4fc2-9951-7886601a95db g.chr1:11182158A>C ENST00000361445.4 - 48 6764 c.6688T>G c.(6688-6690)Tta>Gta p.L2230V MTOR_ENST00000376838.1_Missense_Mutation_p.L435V NM_004958.3 NP_004949.1 P42345 MTOR_HUMAN mechanistic target of rapamycin (serine/threonine kinase) 2230 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 TTGGTCGATAAAGGGATGACA 0.532000 33 8 0 0 1 0 0 MYO7B 4648 broad.mit.edu 37 2 128350379 128350379 + Missense_Mutation SNP G G A TCGA-VW-A7QS-01A-12D-A33T-08 TCGA-VW-A7QS-10A-02D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 956e5346-11d4-4d05-8ba1-404e24662ec2 3f4313bf-c69c-4fc2-9951-7886601a95db g.chr2:128350379G>A ENST00000389524.4 + 17 2056 c.2003G>A c.(2002-2004)cGg>cAg p.R668Q MYO7B_ENST00000409816.2_Missense_Mutation_p.R668Q|MYO7B_ENST00000428314.1_Missense_Mutation_p.R668Q Q6PIF6 MYO7B_HUMAN myosin VIIB 668 Myosin head-like. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 75 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) CTGTTCGACCGGGAGCTGTGC 0.687000 3 30 0 0 1 0 0 LHX5 64211 broad.mit.edu 37 12 113906197 113906197 + Missense_Mutation SNP G G A TCGA-VW-A7QS-01A-12D-A33T-08 TCGA-VW-A7QS-10A-02D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 956e5346-11d4-4d05-8ba1-404e24662ec2 3f4313bf-c69c-4fc2-9951-7886601a95db g.chr12:113906197G>A ENST00000261731.3 - 3 983 c.410C>T c.(409-411)aCg>aTg p.T137M NM_022363.2 NP_071758.1 Q9H2C1 LHX5_HUMAN LIM homeobox 5 137 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1) 10 ACTGCGGTCCGTACAGGATGA 0.662000 23 33 0 0 1 0 0 CSNK2B-LY6G5B-1181 0 broad.mit.edu 37 6 31636397 31636397 + Missense_Mutation SNP G G A TCGA-VW-A7QS-01A-12D-A33T-08 TCGA-VW-A7QS-10A-02D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 956e5346-11d4-4d05-8ba1-404e24662ec2 3f4313bf-c69c-4fc2-9951-7886601a95db g.chr6:31636397G>A ENST00000375880.2 + 4 375 c.257G>A c.(256-258)cGc>cAc p.R86H CSNK2B_ENST00000375882.2_Missense_Mutation_p.R86H|CSNK2B_ENST00000375865.2_Missense_Mutation_p.R86H|CSNK2B_ENST00000375885.4_Missense_Mutation_p.R105H|CSNK2B_ENST00000375866.2_Missense_Mutation_p.R86H ATCCACGCCCGCTACATCCTT 0.552000 65 58 0 0 1 0 0 SHROOM2 357 broad.mit.edu 37 X 9907313 9907313 + Silent SNP G G A TCGA-VW-A7QS-01A-12D-A33T-08 TCGA-VW-A7QS-10A-02D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 956e5346-11d4-4d05-8ba1-404e24662ec2 3f4313bf-c69c-4fc2-9951-7886601a95db g.chrX:9907313G>A ENST00000380913.3 + 8 4308 c.4218G>A c.(4216-4218)gcG>gcA p.A1406A SHROOM2_ENST00000418909.2_Silent_p.A241A NM_001649.2 NP_001640.1 Q13796 SHRM2_HUMAN shroom family member 2 1406 ASD2. apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization apical plasma membrane|cell-cell adherens junction|microtubule|tight junction actin filament binding|beta-catenin binding|ligand-gated sodium channel activity breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 57 Hepatocellular(5;0.000888) CCCCCAAGGCGGAGCTGCTGA 0.597000 20 29 0 0 1 0 0 PCDHA3 0 broad.mit.edu 37 5 140180922 140180922 + Missense_Mutation SNP G G A TCGA-VW-A7QS-01A-12D-A33T-08 TCGA-VW-A7QS-10A-02D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 956e5346-11d4-4d05-8ba1-404e24662ec2 3f4313bf-c69c-4fc2-9951-7886601a95db g.chr5:140180922G>A ENST00000522353.2 + 1 140 c.140G>A c.(139-141)cGc>cAc p.R47H PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.R47H|PCDHA1_ENST00000504120.2_Intron NM_018906.2 NP_061729.1 p.R47P(2) NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTCGTGGGCCGCATCGCGCAG 0.657000 5 282 0 0 1 0 0 SCN11A 11280 broad.mit.edu 37 3 38888491 38888491 + Silent SNP G G A TCGA-VW-A7QS-01A-12D-A33T-08 TCGA-VW-A7QS-10A-02D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 956e5346-11d4-4d05-8ba1-404e24662ec2 3f4313bf-c69c-4fc2-9951-7886601a95db g.chr3:38888491G>A ENST00000450244.1 - 26 5268 c.5070C>T c.(5068-5070)acC>acT p.T1690T SCN11A_ENST00000456224.3_Silent_p.T1652T|SCN11A_ENST00000302328.3_Silent_p.T1690T Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 1690 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) GTACCCTAGCGGTGAAGGCGA 0.453000 140 142 0 0 1 0 0 KCNS2 3788 broad.mit.edu 37 8 99441273 99441273 + Missense_Mutation SNP G G A TCGA-VW-A7QS-01A-12D-A33T-08 TCGA-VW-A7QS-10A-02D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 956e5346-11d4-4d05-8ba1-404e24662ec2 3f4313bf-c69c-4fc2-9951-7886601a95db g.chr8:99441273G>A ENST00000287042.4 + 2 1416 c.1066G>A c.(1066-1068)Gag>Aag p.E356K KCNS2_ENST00000521839.1_Missense_Mutation_p.E356K NM_020697.2 NP_065748.1 Q9ULS6 KCNS2_HUMAN potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2 356 voltage-gated potassium channel complex voltage-gated potassium channel activity autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 31 Breast(36;2.4e-06) OV - Ovarian serous cystadenocarcinoma(57;0.0448) GGAGGAGAACGAGGGCCTGGC 0.577000 55 83 0 0 1 0 0 PDIA5 10954 broad.mit.edu 37 3 122849400 122849400 + Missense_Mutation SNP G G A rs145568670 TCGA-VW-A7QS-01A-12D-A33T-08 TCGA-VW-A7QS-10A-02D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 956e5346-11d4-4d05-8ba1-404e24662ec2 3f4313bf-c69c-4fc2-9951-7886601a95db g.chr3:122849400G>A ENST00000316218.7 + 11 942 c.847G>A c.(847-849)Gat>Aat p.D283N NM_006810.3 NP_006801.1 Q14554 PDIA5_HUMAN protein disulfide isomerase family A, member 5 283 Thioredoxin 2. cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress endoplasmic reticulum lumen electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 21 GBM - Glioblastoma multiforme(114;0.0427) TCACCTGACCGATGAAGACTT 0.587000 60 85 0 0 1 0 0 ITIH5 80760 broad.mit.edu 37 10 7627946 7627946 + Silent SNP T T C TCGA-VW-A7QS-01A-12D-A33T-08 TCGA-VW-A7QS-10A-02D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 956e5346-11d4-4d05-8ba1-404e24662ec2 3f4313bf-c69c-4fc2-9951-7886601a95db g.chr10:7627946T>C ENST00000256861.6 - 8 1104 c.1026A>G c.(1024-1026)gtA>gtG p.V342V ITIH5_ENST00000397146.2_Silent_p.V342V|ITIH5_ENST00000298441.6_Silent_p.V128V|ITIH5_ENST00000446830.2_Silent_p.V124V|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397145.2_Silent_p.V342V NM_030569.6 NP_085046.5 Q86UX2 ITIH5_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 5 342 VWFA. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3) 75 GGTCCTTCCATACTTTGATCC 0.473000 40 59 0 0 1 0 0 KCNT2 343450 broad.mit.edu 37 1 196309662 196309662 + Missense_Mutation SNP T T C TCGA-VW-A7QS-01A-12D-A33T-08 TCGA-VW-A7QS-10A-02D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 956e5346-11d4-4d05-8ba1-404e24662ec2 3f4313bf-c69c-4fc2-9951-7886601a95db g.chr1:196309662T>C ENST00000367433.5 - 16 1693 c.1592A>G c.(1591-1593)aAt>aGt p.N531S KCNT2_ENST00000294725.8_Missense_Mutation_p.N531S|KCNT2_ENST00000451324.2_Missense_Mutation_p.N142S|KCNT2_ENST00000367431.4_Missense_Mutation_p.N481S|KCNT2_ENST00000498426.1_5'UTR Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 531 RCK N-terminal. voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 AATGTTTTTATTATCCTCCCT 0.303000 23 138 0 0 1 0 0 SEC22B 9554 broad.mit.edu 37 1 145109975 145109976 + RNA INS - - C rs67257307 TCGA-VW-A7QS-01A-12D-A33T-08 TCGA-VW-A7QS-10A-02D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 956e5346-11d4-4d05-8ba1-404e24662ec2 3f4313bf-c69c-4fc2-9951-7886601a95db g.chr1:145109975_145109976insC ENST00000453618.1 + 0 673 O75396 SC22B_HUMAN SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome protein binding CAGGAACTTTGCTAAAGATCTA 0.386 3 5 --- --- --- --- PSME4 23198 broad.mit.edu 37 2 54167139 54167140 + Splice_Site INS - - G TCGA-VW-A7QS-01A-12D-A33T-08 TCGA-VW-A7QS-10A-02D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 956e5346-11d4-4d05-8ba1-404e24662ec2 3f4313bf-c69c-4fc2-9951-7886601a95db g.chr2:54167139_54167140insG ENST00000404125.1 - 4 556 c.e4-2 PSME4_ENST00000421748.2_Intron NM_014614.2 NP_055429.2 Q14997 PSME4_HUMAN proteasome (prosome, macropain) activator subunit 4 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction nuclear speck|proteasome complex binding p.?(1) breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2) 60 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) TCTACAGAACTGGGGGGGGAAA 0.347 9 291 --- --- --- --- CTD-2324F15.2 0 broad.mit.edu 37 5 6337066 6337067 + RNA DEL AC AC - TCGA-VW-A7QS-01A-12D-A33T-08 TCGA-VW-A7QS-10A-02D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 956e5346-11d4-4d05-8ba1-404e24662ec2 3f4313bf-c69c-4fc2-9951-7886601a95db g.chr5:6337066_6337067delAC ENST00000507444.1 - 0 143 NR_028351.1 acacatacatacacacacacac 0.475 4 9 --- --- --- --- INTS4L2 0 broad.mit.edu 37 7 65150816 65150817 + RNA INS - - C TCGA-VW-A7QS-01A-12D-A33T-08 TCGA-VW-A7QS-10A-02D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 956e5346-11d4-4d05-8ba1-404e24662ec2 3f4313bf-c69c-4fc2-9951-7886601a95db g.chr7:65150816_65150817insC ENST00000430126.2 + 0 757 TTCATCCCTCACCCCCCCCCCC 0.465 5 6 --- --- --- --- AKAP9 10142 broad.mit.edu 37 7 91630393 91630396 + Frame_Shift_Del DEL AGAC AGAC - rs146864466 TCGA-VW-A7QS-01A-12D-A33T-08 TCGA-VW-A7QS-10A-02D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 956e5346-11d4-4d05-8ba1-404e24662ec2 3f4313bf-c69c-4fc2-9951-7886601a95db g.chr7:91630393_91630396delAGAC ENST00000359028.2 + 9 1423_1426 c.1198_1201delAGAC c.(1198-1203)agfs p.RQ400fs AKAP9_ENST00000358100.2_Frame_Shift_Del_p.RQ400fs|AKAP9_ENST00000356239.3_Frame_Shift_Del_p.RQ388fs Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 400 Glu-rich. G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding p.R400K(1)|p.R388K(1) NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) gcaaaaagaaagacagtcttctga 0.328 T BRAF papillary thyroid 15 48 --- --- --- --- RP11-262H14.3 0 broad.mit.edu 37 9 66545704 66545704 + RNA DEL C C - rs12353356 TCGA-VW-A7QS-01A-12D-A33T-08 TCGA-VW-A7QS-10A-02D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 956e5346-11d4-4d05-8ba1-404e24662ec2 3f4313bf-c69c-4fc2-9951-7886601a95db g.chr9:66545704delC ENST00000445604.2 - 0 669 GAAAAAAAAACAAAGAAAGAA 0.373 4 7 --- --- --- --- HNRNPK 3190 broad.mit.edu 37 9 86588288 86588289 + Frame_Shift_Del DEL AA AA - TCGA-VW-A7QS-01A-12D-A33T-08 TCGA-VW-A7QS-10A-02D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 956e5346-11d4-4d05-8ba1-404e24662ec2 3f4313bf-c69c-4fc2-9951-7886601a95db g.chr9:86588288_86588289delAA ENST00000376263.3 - 9 651_652 c.428_429delTT c.(427-429)tfs p.F143fs RP11-575L7.8_ENST00000448389.1_RNA|HNRNPK_ENST00000376264.2_Frame_Shift_Del_p.F143fs|HNRNPK_ENST00000376281.4_Frame_Shift_Del_p.F143fs|HNRNPK_ENST00000351839.3_Frame_Shift_Del_p.F143fs|HNRNPK_ENST00000360384.5_Frame_Shift_Del_p.F143fs NM_031263.2 NP_112553.1 P61978 HNRPK_HUMAN heterogeneous nuclear ribonucleoprotein K 143 2 X 22 AA approximate repeats.|5 X 4 AA repeats of G-X-G-G.|Interaction with ASFV p30.|Necessary for interaction with DDX1. interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1) 19 ACTCGCAGTCAAAGTCACTTCC 0.366 26 288 --- --- --- --- NOTCH1 4851 broad.mit.edu 37 9 139412283 139412285 + In_Frame_Del DEL GTT GTT - TCGA-VW-A7QS-01A-12D-A33T-08 TCGA-VW-A7QS-10A-02D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 956e5346-11d4-4d05-8ba1-404e24662ec2 3f4313bf-c69c-4fc2-9951-7886601a95db g.chr9:139412283_139412285delGTT ENST00000277541.6 - 8 1435_1437 c.1360_1362delAAC c.(1360-1362)del p.N454del NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 454 EGF-like 12; calcium-binding (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity p.N454delN(2) breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) AGACGCACTCGTTGACGTCGATC 0.660 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 66 85 --- --- --- --- ANO8 57719 broad.mit.edu 37 19 17439421 17439422 + In_Frame_Ins INS - - TCC TCGA-VW-A7QS-01A-12D-A33T-08 TCGA-VW-A7QS-10A-02D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 956e5346-11d4-4d05-8ba1-404e24662ec2 3f4313bf-c69c-4fc2-9951-7886601a95db g.chr19:17439421_17439422insTCC ENST00000159087.4 - 13 1933_1934 c.1775_1776insGGA c.(1774-1776)gga>gGGAga p.592_593insR NM_020959.2 NP_066010.1 Q9HCE9 ANO8_HUMAN anoctamin 8 592 Glu-rich. chloride channel complex chloride channel activity autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3) 27 cttcctcctcgtcctcctcctc 0.743 2 4 --- --- --- --- USP25 29761 broad.mit.edu 37 21 17203875 17203876 + Frame_Shift_Del DEL TT TT - TCGA-VW-A7QS-01A-12D-A33T-08 TCGA-VW-A7QS-10A-02D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 956e5346-11d4-4d05-8ba1-404e24662ec2 3f4313bf-c69c-4fc2-9951-7886601a95db g.chr21:17203875_17203876delTT ENST00000285681.2 + 16 2289_2290 c.1920_1921delTT c.(1918-1923)tcttfs p.SF640fs USP25_ENST00000285679.6_Frame_Shift_Del_p.SF640fs|USP25_ENST00000400183.2_Frame_Shift_Del_p.SF640fs|USP25_ENST00000351097.5_Intron Q9UHP3 UBP25_HUMAN ubiquitin specific peptidase 25 640 protein modification process|ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2) 52 Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889) TGAGGGACTCTTTTGGTGGTTA 0.366 72 139 --- --- --- --- GAGE2A 729447 broad.mit.edu 37 X 49355814 49355816 + In_Frame_Del DEL TGA TGA - TCGA-VW-A7QS-01A-12D-A33T-08 TCGA-VW-A7QS-10A-02D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 956e5346-11d4-4d05-8ba1-404e24662ec2 3f4313bf-c69c-4fc2-9951-7886601a95db g.chrX:49355814_49355816delTGA ENST00000362097.1 + 3 179_181 c.96_98delTGA c.(94-99)agt>ag p.SD32del NM_001127212.1 NP_001120684.1 G antigen 2A endometrium(4) 4 Ovarian(276;0.236) AGCAGTTCAGTGATGAAGTGGAA 0.453 15 1285 --- --- --- ---