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 ZBTB16 7704 broad.mit.edu 37 11 114112945 114112945 + Missense_Mutation SNP G G A TCGA-YL-A8HJ-01A-11D-A364-08 TCGA-YL-A8HJ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381043c4-b863-489e-9b3d-6c3551c2c4b1 998f424a-c098-4c2c-b258-03f0e4c0ea1d g.chr11:114112945G>A ENST00000335953.4 + 5 1890 c.1510G>A c.(1510-1512)Gca>Aca p.A504T ZBTB16_ENST00000535379.1_3'UTR|ZBTB16_ENST00000392996.2_Missense_Mutation_p.A504T|RP11-64D24.2_ENST00000544925.1_RNA NM_006006.4 NP_005997.2 Q05516 ZBT16_HUMAN zinc finger and BTB domain containing 16 504 apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent nuclear speck|PML body|transcriptional repressor complex protein homodimerization activity|zinc ion binding central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2) 6 all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438) BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018) GGCGCAGAGCGCACTGCAGCA 0.627000 8 21 0 0 1 0 0 NFKBIE 4794 broad.mit.edu 37 6 44229519 44229519 + Missense_Mutation SNP C C T TCGA-YL-A8HJ-01A-11D-A364-08 TCGA-YL-A8HJ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381043c4-b863-489e-9b3d-6c3551c2c4b1 998f424a-c098-4c2c-b258-03f0e4c0ea1d g.chr6:44229519C>T ENST00000275015.5 - 3 951 c.952G>A c.(952-954)Gcc>Acc p.A318T NM_004556.2 NP_004547.2 O00221 IKBE_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon 318 cytoplasmic sequestering of transcription factor protein binding breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|urinary_tract(1) 10 all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) GCCCGGCTGGCCCCCTTCAGC 0.657000 9 30 0 0 1 0 0 FFAR3 2865 broad.mit.edu 37 19 35849909 35849909 + Silent SNP C C T rs148149328 TCGA-YL-A8HJ-01A-11D-A364-08 TCGA-YL-A8HJ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381043c4-b863-489e-9b3d-6c3551c2c4b1 998f424a-c098-4c2c-b258-03f0e4c0ea1d g.chr19:35849909C>T ENST00000327809.4 + 2 318 c.117C>T c.(115-117)ttC>ttT p.F39F FFAR3_ENST00000594310.1_Silent_p.F39F NM_005304.3 NP_005295.1 O14843 FFAR3_HUMAN free fatty acid receptor 3 39 integral to plasma membrane G-protein coupled receptor activity|lipid binding p.F39F(1) endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1) 17 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221) TGGTGGTCTTCGTGGGCAAGC 0.637000 16 108 0 0 1 0 0 CHDC2 286464 broad.mit.edu 37 X 36103579 36103579 + Missense_Mutation SNP T T C TCGA-YL-A8HJ-01A-11D-A364-08 TCGA-YL-A8HJ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381043c4-b863-489e-9b3d-6c3551c2c4b1 998f424a-c098-4c2c-b258-03f0e4c0ea1d g.chrX:36103579T>C ENST00000378660.1 + 5 753 c.565T>C c.(565-567)Tct>Cct p.S189P CHDC2_ENST00000313548.4_Missense_Mutation_p.S189P calponin homology domain containing 2 TTCAAGTCAATCTTTACCTGT 0.368000 9 19 0 0 1 0 0 ZNF587 84914 broad.mit.edu 37 19 58371137 58371137 + Missense_Mutation SNP G G T TCGA-YL-A8HJ-01A-11D-A364-08 TCGA-YL-A8HJ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381043c4-b863-489e-9b3d-6c3551c2c4b1 998f424a-c098-4c2c-b258-03f0e4c0ea1d g.chr19:58371137G>T ENST00000339656.5 + 3 1539 c.1357G>T c.(1357-1359)Gtt>Ttt p.V453F ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF587_ENST00000423137.1_Missense_Mutation_p.V452F|ZNF814_ENST00000596604.1_Intron|ZNF587_ENST00000419854.1_Missense_Mutation_p.V410F|ZNF814_ENST00000597832.1_Intron NM_001204817.1|NM_032828.3 NP_001191746.1|NP_116217.1 Q96SQ5 ZN587_HUMAN zinc finger protein 587 453 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1) 15 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264) TCATCTTCTGGTTCATGAGAG 0.433000 11 72 7.03913e-09 7.67905e-09 1 1 0 PMF1 11243 broad.mit.edu 37 1 156203419 156203419 + Splice_Site SNP G G T TCGA-YL-A8HJ-01A-11D-A364-08 TCGA-YL-A8HJ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381043c4-b863-489e-9b3d-6c3551c2c4b1 998f424a-c098-4c2c-b258-03f0e4c0ea1d g.chr1:156203419G>T ENST00000368277.3 + 3 277 c.267_splice c.e3-1 p.E90_splice PMF1-BGLAP_ENST00000490491.1_Splice_Site_p.E90_splice|PMF1-BGLAP_ENST00000320139.5_Splice_Site_p.E90_splice|PMF1_ENST00000466489.1_3'UTR|PMF1_ENST00000368279.3_Splice_Site_p.E90_splice|PMF1_ENST00000567140.1_Splice_Site_p.E90_splice|PMF1_ENST00000565805.1_Splice_Site_p.E90_splice|PMF1-BGLAP_ENST00000368276.4_Splice_Site_p.E90_splice|PMF1_ENST00000368273.4_Splice_Site_p.E92_splice NM_007221.3 NP_009152.2 polyamine-modulated factor 1 kidney(1)|large_intestine(2)|lung(3) 6 Hepatocellular(266;0.158) TTCTCTTCAGGAGGAAATCTC 0.443000 4 110 0.014758 0.014758 1 1 0 ACTRT1 139741 broad.mit.edu 37 X 127185975 127185975 + Missense_Mutation SNP G G T TCGA-YL-A8HJ-01A-11D-A364-08 TCGA-YL-A8HJ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381043c4-b863-489e-9b3d-6c3551c2c4b1 998f424a-c098-4c2c-b258-03f0e4c0ea1d g.chrX:127185975G>T ENST00000371124.3 - 1 407 c.211C>A c.(211-213)Cac>Aac p.H71N NM_138289.3 NP_612146.1 Q8TDG2 ACTT1_HUMAN actin-related protein T1 71 cytoplasm|cytoskeleton breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3) 34 ATGGGGTAGTGCAAATGTAGG 0.473000 6 60 3.59834e-05 3.83823e-05 1 1 0 HYDIN 54768 broad.mit.edu 37 16 70843713 70843713 + Silent SNP T T A TCGA-YL-A8HJ-01A-11D-A364-08 TCGA-YL-A8HJ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381043c4-b863-489e-9b3d-6c3551c2c4b1 998f424a-c098-4c2c-b258-03f0e4c0ea1d g.chr16:70843713T>A ENST00000393567.2 - 85 15006 c.14856A>T c.(14854-14856)acA>acT p.T4952T NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 4952 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) TCCTCTGCCGTGTGTAATTGA 0.507000 9 89 0 0 1 0 0 ABCA4 24 broad.mit.edu 37 1 94517208 94517208 + Silent SNP C C T TCGA-YL-A8HJ-01A-11D-A364-08 TCGA-YL-A8HJ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381043c4-b863-489e-9b3d-6c3551c2c4b1 998f424a-c098-4c2c-b258-03f0e4c0ea1d g.chr1:94517208C>T ENST00000370225.3 - 17 2720 c.2634G>A c.(2632-2634)tcG>tcA p.S878S ABCA4_ENST00000535735.1_Silent_p.S804S NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 878 phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) CAAGCCAATACGACTCTTGTA 0.418000 7 56 0 0 1 0 0 PCDH17 27253 broad.mit.edu 37 13 58207773 58207773 + Missense_Mutation SNP G G A TCGA-YL-A8HJ-01A-11D-A364-08 TCGA-YL-A8HJ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381043c4-b863-489e-9b3d-6c3551c2c4b1 998f424a-c098-4c2c-b258-03f0e4c0ea1d g.chr13:58207773G>A ENST00000377918.3 + 1 1119 c.1093G>A c.(1093-1095)Gcc>Acc p.A365T NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 365 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) GAGCGAGGCCGCCCCTCCCGG 0.682000 11 24 0 0 1 0 0 IGHV6-1 0 broad.mit.edu 37 14 106405838 106405838 + RNA SNP C C T TCGA-YL-A8HJ-01A-11D-A364-08 TCGA-YL-A8HJ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381043c4-b863-489e-9b3d-6c3551c2c4b1 998f424a-c098-4c2c-b258-03f0e4c0ea1d g.chr14:106405838C>T ENST00000390593.2 - 0 187 ACACTGTCCCCGGAGATGGCA 0.577000 16 55 0 0 1 0 0 GMIP 51291 broad.mit.edu 37 19 19745500 19745500 + Missense_Mutation SNP C C T TCGA-YL-A8HJ-01A-11D-A364-08 TCGA-YL-A8HJ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381043c4-b863-489e-9b3d-6c3551c2c4b1 998f424a-c098-4c2c-b258-03f0e4c0ea1d g.chr19:19745500C>T ENST00000203556.4 - 18 2037 c.1900G>A c.(1900-1902)Gtg>Atg p.V634M GMIP_ENST00000587238.1_Missense_Mutation_p.V608M|GMIP_ENST00000586269.1_Intron|GMIP_ENST00000445806.2_Missense_Mutation_p.V605M NM_016573.2 NP_057657.2 Q9P107 GMIP_HUMAN GEM interacting protein 634 Rho-GAP. negative regulation of Rho GTPase activity|small GTPase mediated signal transduction cytosol metal ion binding|protein binding|Rho GTPase activator activity breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 AAGGGGATCACGGGCTCGGTG 0.667000 21 119 0 0 1 0 0 KDM3B 51780 broad.mit.edu 37 5 137763721 137763721 + Missense_Mutation SNP G G A TCGA-YL-A8HJ-01A-11D-A364-08 TCGA-YL-A8HJ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381043c4-b863-489e-9b3d-6c3551c2c4b1 998f424a-c098-4c2c-b258-03f0e4c0ea1d g.chr5:137763721G>A ENST00000314358.5 + 20 4899 c.4699G>A c.(4699-4701)Gtt>Att p.V1567I KDM3B_ENST00000394866.1_Missense_Mutation_p.V1223I|KDM3B_ENST00000542866.1_Missense_Mutation_p.V599I NM_016604.3 NP_057688.2 Q7LBC6 KDM3B_HUMAN lysine (K)-specific demethylase 3B 1567 JmjC. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 65 GTCTGATGCTGTTAATGTGAT 0.433000 26 117 0 0 1 0 0 PCBP3 54039 broad.mit.edu 37 21 47349908 47349908 + Splice_Site SNP C C T TCGA-YL-A8HJ-01A-11D-A364-08 TCGA-YL-A8HJ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381043c4-b863-489e-9b3d-6c3551c2c4b1 998f424a-c098-4c2c-b258-03f0e4c0ea1d g.chr21:47349908C>T ENST00000400314.1 + 12 1133 c.796_splice c.e12+1 p.P265_splice PCBP3_ENST00000449640.1_Splice_Site_p.P265_splice|PRED62_ENST00000593412.1_Intron|PCBP3_ENST00000400304.1_Splice_Site_p.P255_splice|PCBP3_ENST00000400308.1_Splice_Site_p.P239_splice|PCBP3_ENST00000468429.1_3'UTR|PCBP3_ENST00000400309.1_Splice_Site_p.P264_splice|PCBP3_ENST00000400310.1_Splice_Site_p.P265_splice P57721 PCBP3_HUMAN poly(rC) binding protein 3 265 mRNA metabolic process cytosol|mitochondrion|nucleus|ribonucleoprotein complex DNA binding|RNA binding biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 17 all_hematologic(128;0.24) Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649) CCGCTTTCCCCGGTACGTACC 0.567000 5 48 0 0 1 0 0 MEGF6 1953 broad.mit.edu 37 1 3428622 3428622 + Silent SNP C C T TCGA-YL-A8HJ-01A-11D-A364-08 TCGA-YL-A8HJ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381043c4-b863-489e-9b3d-6c3551c2c4b1 998f424a-c098-4c2c-b258-03f0e4c0ea1d g.chr1:3428622C>T ENST00000356575.4 - 8 1150 c.924G>A c.(922-924)aaG>aaA p.K308K MEGF6_ENST00000294599.4_Silent_p.K203K NM_001409.3 NP_001400.3 O75095 MEGF6_HUMAN multiple EGF-like-domains 6 308 EGF-like 5; calcium-binding (Potential). extracellular region calcium ion binding cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105) all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211) Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213) GACACACGCACTTGAAGGACC 0.667000 12 63 0 0 1 0 0 PRKACA 5566 broad.mit.edu 37 19 14213651 14213651 + Missense_Mutation SNP C C T TCGA-YL-A8HJ-01A-11D-A364-08 TCGA-YL-A8HJ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381043c4-b863-489e-9b3d-6c3551c2c4b1 998f424a-c098-4c2c-b258-03f0e4c0ea1d g.chr19:14213651C>T ENST00000308677.4 - 4 509 c.313G>A c.(313-315)Gtc>Atc p.V105I PRKACA_ENST00000589994.1_Missense_Mutation_p.V97I|PRKACA_ENST00000350356.3_5'UTR|PRKACA_ENST00000590853.1_Intron NM_002730.3 NP_002721.1 P17612 KAPCA_HUMAN protein kinase, cAMP-dependent, catalytic, alpha 105 Protein kinase. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1) 16 TCGAGTTTGACGAGGAACGGA 0.597000 11 68 0 0 1 0 0 GZMH 2999 broad.mit.edu 37 14 25075816 25075816 + Missense_Mutation SNP C C T rs140139906 TCGA-YL-A8HJ-01A-11D-A364-08 TCGA-YL-A8HJ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381043c4-b863-489e-9b3d-6c3551c2c4b1 998f424a-c098-4c2c-b258-03f0e4c0ea1d g.chr14:25075816C>T ENST00000216338.4 - 5 778 c.734G>A c.(733-735)cGc>cAc p.R245H RP11-104E19.1_ENST00000555300.1_RNA|GZMH_ENST00000382548.4_Missense_Mutation_p.R159H|GZMH_ENST00000557220.2_Missense_Mutation_p.R114H|RP11-104E19.1_ENST00000557736.1_RNA NM_033423.3 NP_219491.1 P20718 GRAH_HUMAN granzyme H (cathepsin G-like 2, protein h-CCPX) 245 apoptosis|cytolysis|proteolysis cytoplasm serine-type endopeptidase activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1) 12 GBM - Glioblastoma multiforme(265;0.0267) CTGTTAGAGGCGCTTCATTGT 0.532000 16 78 0 0 1 0 0 KRTAP4-7 100132476 broad.mit.edu 37 17 39240627 39240627 + Missense_Mutation SNP T T C rs139671425 by1000genomes TCGA-YL-A8HJ-01A-11D-A364-08 TCGA-YL-A8HJ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381043c4-b863-489e-9b3d-6c3551c2c4b1 998f424a-c098-4c2c-b258-03f0e4c0ea1d g.chr17:39240627T>C ENST00000391417.4 + 1 169 c.169T>C c.(169-171)Tct>Cct p.S57P NM_033061.3 NP_149050.3 keratin associated protein 4-7 p.S57P(4) NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1) 9 GTGCTGCCAGTCTGTGTGCTG 0.667000 4 28 0 0 1 0 0 OR4C6 219432 broad.mit.edu 37 11 55432865 55432865 + Missense_Mutation SNP G G A TCGA-YL-A8HJ-01A-11D-A364-08 TCGA-YL-A8HJ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381043c4-b863-489e-9b3d-6c3551c2c4b1 998f424a-c098-4c2c-b258-03f0e4c0ea1d g.chr11:55432865G>A ENST00000314259.3 + 1 252 c.223G>A c.(223-225)Gtt>Att p.V75I NM_001004704.1 NP_001004704.1 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, member 6 75 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 71 CTCATCTGTCGTTGCCCCCAA 0.448000 13 52 0 0 1 0 0 SLC12A5 57468 broad.mit.edu 37 20 44682327 44682327 + Silent SNP G G A TCGA-YL-A8HJ-01A-11D-A364-08 TCGA-YL-A8HJ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381043c4-b863-489e-9b3d-6c3551c2c4b1 998f424a-c098-4c2c-b258-03f0e4c0ea1d g.chr20:44682327G>A ENST00000454036.1 + 20 2803 c.2727G>A c.(2725-2727)gcG>gcA p.A909A SLC12A5_ENST00000243964.3_Silent_p.A886A NM_001134771.1 NP_001128243.1 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium/chloride transporter), member 5 909 potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 80 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) GCATCACTGCGGAGGTCGAGG 0.537000 12 51 0 0 1 0 0 TRIL 9865 broad.mit.edu 37 7 28997483 28997483 + RNA SNP G G A TCGA-YL-A8HJ-01A-11D-A364-08 TCGA-YL-A8HJ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381043c4-b863-489e-9b3d-6c3551c2c4b1 998f424a-c098-4c2c-b258-03f0e4c0ea1d g.chr7:28997483G>A ENST00000322982.3 - 0 451 AC005013.5_ENST00000436594.1_lincRNA Q7L0X0 TRIL_HUMAN TLR4 interactor with leucine-rich repeats inflammatory response|innate immune response|regulation of cytokine production involved in immune response|toll-like receptor 4 signaling pathway lipopolysaccharide receptor complex lipopolysaccharide binding AGGTGAGCACGTCGTGGGGGC 0.652000 7 56 0 0 1 0 0 RNF139 11236 broad.mit.edu 37 8 125499608 125499608 + Missense_Mutation SNP G G A TCGA-YL-A8HJ-01A-11D-A364-08 TCGA-YL-A8HJ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381043c4-b863-489e-9b3d-6c3551c2c4b1 998f424a-c098-4c2c-b258-03f0e4c0ea1d g.chr8:125499608G>A ENST00000303545.3 + 2 2090 c.1718G>A c.(1717-1719)cGg>cAg p.R573Q NM_007218.3 NP_009149.2 Q8WU17 RN139_HUMAN ring finger protein 139 573 negative regulation of cell proliferation|regulation of protein ubiquitination endoplasmic reticulum membrane|integral to membrane protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(1) 20 Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) CTTTGCCTTCGGAAATGGCTG 0.348000 3 33 0 0 1 0 0 SUPT6H 6830 broad.mit.edu 37 17 27011735 27011735 + Silent SNP C C A TCGA-YL-A8HJ-01A-11D-A364-08 TCGA-YL-A8HJ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381043c4-b863-489e-9b3d-6c3551c2c4b1 998f424a-c098-4c2c-b258-03f0e4c0ea1d g.chr17:27011735C>A ENST00000314616.6 + 18 2644 c.2361C>A c.(2359-2361)tcC>tcA p.S787S SUPT6H_ENST00000347486.4_Silent_p.S787S NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 787 chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) TTGCTTTCTCCTCTGCCAGGT 0.468000 3 36 0.004672 0.00487513 1 1 0 DDX41 51428 broad.mit.edu 37 5 176942200 176942200 + Missense_Mutation SNP C C T TCGA-YL-A8HJ-01A-11D-A364-08 TCGA-YL-A8HJ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381043c4-b863-489e-9b3d-6c3551c2c4b1 998f424a-c098-4c2c-b258-03f0e4c0ea1d g.chr5:176942200C>T ENST00000507955.1 - 7 1154 c.631G>A c.(631-633)Ggc>Agc p.G211S DDX41_ENST00000506965.1_5'UTR NM_016222.2 NP_057306.2 Q9UJV9 DDX41_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 41 211 apoptosis|multicellular organismal development catalytic step 2 spliceosome ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191) GTGGGGATGCCCTGGATCTGA 0.527000 7 72 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216144041 216144041 + Missense_Mutation SNP C C T TCGA-YL-A8HJ-01A-11D-A364-08 TCGA-YL-A8HJ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381043c4-b863-489e-9b3d-6c3551c2c4b1 998f424a-c098-4c2c-b258-03f0e4c0ea1d g.chr1:216144041C>T ENST00000366943.2 - 36 7269 c.6883G>A c.(6883-6885)Gga>Aga p.G2295R USH2A_ENST00000307340.3_Missense_Mutation_p.G2295R O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 2295 Fibronectin type-III 9. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GGAGCAAATCCGTAAGCACGA 0.418000 HNSCC(13;0.011) 5 108 0 0 1 0 0 UTRN 7402 broad.mit.edu 37 6 145157448 145157448 + Missense_Mutation SNP T T C TCGA-YL-A8HJ-01A-11D-A364-08 TCGA-YL-A8HJ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381043c4-b863-489e-9b3d-6c3551c2c4b1 998f424a-c098-4c2c-b258-03f0e4c0ea1d g.chr6:145157448T>C ENST00000367545.3 + 70 9836 c.9836T>C c.(9835-9837)gTg>gCg p.V3279A UTRN_ENST00000367526.4_Missense_Mutation_p.V834A NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin 3279 muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 148 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) AATCTACAGGTGGAGTATGAG 0.488000 26 117 0 0 1 0 0 CD96 0 broad.mit.edu 37 3 111263902 111263902 + Missense_Mutation SNP A A G TCGA-YL-A8HJ-01A-11D-A364-08 TCGA-YL-A8HJ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381043c4-b863-489e-9b3d-6c3551c2c4b1 998f424a-c098-4c2c-b258-03f0e4c0ea1d g.chr3:111263902A>G ENST00000352690.4 + 2 311 c.71A>G c.(70-72)gAa>gGa p.E24G CD96_ENST00000283285.5_Missense_Mutation_p.E24G|CD96_ENST00000438817.2_Missense_Mutation_p.E24G NM_005816.4 NP_005807.1 P40200 TACT_HUMAN CD96 molecule 24 cell adhesion|immune response|regulation of immune response integral to plasma membrane central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5) 35 GGAGTTTGGGAAAAAACAGTC 0.403000 Opitz Trigonocephaly syndrome 6 51 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 38989877 38989877 + Missense_Mutation SNP G G A TCGA-YL-A8HJ-01A-11D-A364-08 TCGA-YL-A8HJ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381043c4-b863-489e-9b3d-6c3551c2c4b1 998f424a-c098-4c2c-b258-03f0e4c0ea1d g.chr19:38989877G>A ENST00000355481.4 + 43 7152 c.7021G>A c.(7021-7023)Gtc>Atc p.V2341I RYR1_ENST00000360985.3_Missense_Mutation_p.V2341I|RYR1_ENST00000359596.3_Missense_Mutation_p.V2341I NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 2341 6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) TGCTGTCTTCGTCAACGGTGA 0.607000 6 41 0 0 1 0 0 MAGEA6 4105 broad.mit.edu 37 X 151870216 151870216 + Silent SNP A A T TCGA-YL-A8HJ-01A-11D-A364-08 TCGA-YL-A8HJ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381043c4-b863-489e-9b3d-6c3551c2c4b1 998f424a-c098-4c2c-b258-03f0e4c0ea1d g.chrX:151870216A>T ENST00000329342.5 + 3 1131 c.906A>T c.(904-906)ccA>ccT p.P302P NM_005363.2 NP_005354.1 P43360 MAGA6_HUMAN melanoma antigen family A, 6 302 MAGE. protein binding breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) TTTCCTACCCACTCCTGCATG 0.567000 22 50 0 0 1 0 0 RP11-640M9.2 0 broad.mit.edu 37 1 144598726 144598726 + RNA SNP A A C TCGA-YL-A8HJ-01A-11D-A364-08 TCGA-YL-A8HJ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381043c4-b863-489e-9b3d-6c3551c2c4b1 998f424a-c098-4c2c-b258-03f0e4c0ea1d g.chr1:144598726A>C ENST00000419820.1 + 0 654 CATTCGGTGCACCAAGAGCAA 0.572000 3 9 0 0 1 0 0 DZIP1 22873 broad.mit.edu 37 13 96239899 96239899 + Silent SNP C C T rs111764824 TCGA-YL-A8HJ-01A-11D-A364-08 TCGA-YL-A8HJ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381043c4-b863-489e-9b3d-6c3551c2c4b1 998f424a-c098-4c2c-b258-03f0e4c0ea1d g.chr13:96239899C>T ENST00000347108.3 - 18 2544 c.2112G>A c.(2110-2112)ccG>ccA p.P704P DZIP1_ENST00000361156.3_Silent_p.P685P|DZIP1_ENST00000376829.2_Silent_p.P704P|DZIP1_ENST00000361396.2_Silent_p.P685P Q86YF9 DZIP1_HUMAN DAZ interacting zinc finger protein 1 704 germ cell development|multicellular organismal development|spermatogenesis cytoplasm|nucleus nucleic acid binding|protein binding|zinc ion binding p.P685P(1) endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1) 38 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.141) TTTGTGGTGGCGGCACAGGAA 0.567000 4 57 0 0 1 0 0 LCTL 197021 broad.mit.edu 37 15 66850145 66850145 + Silent SNP G G A TCGA-YL-A8HJ-01A-11D-A364-08 TCGA-YL-A8HJ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381043c4-b863-489e-9b3d-6c3551c2c4b1 998f424a-c098-4c2c-b258-03f0e4c0ea1d g.chr15:66850145G>A ENST00000341509.5 - 8 968 c.837C>T c.(835-837)gcC>gcT p.A279A LCTL_ENST00000537670.1_Silent_p.A106A NM_207338.2 NP_997221.2 Q6UWM7 LCTL_HUMAN lactase-like 279 carbohydrate metabolic process endoplasmic reticulum membrane|integral to membrane cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 GGTATCTCTCGGCAGCCTCTA 0.498000 8 102 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105419126 105419126 + Missense_Mutation SNP C C T TCGA-YL-A8HJ-01A-11D-A364-08 TCGA-YL-A8HJ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381043c4-b863-489e-9b3d-6c3551c2c4b1 998f424a-c098-4c2c-b258-03f0e4c0ea1d g.chr14:105419126C>T ENST00000333244.5 - 7 2781 c.2662G>A c.(2662-2664)Gct>Act p.A888T AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 888 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TCCAGGTCAGCGGAAGGGGGC 0.647000 11 165 0 0 1 0 0 QSOX1 5768 broad.mit.edu 37 1 180159574 180159574 + Missense_Mutation SNP G G A TCGA-YL-A8HJ-01A-11D-A364-08 TCGA-YL-A8HJ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381043c4-b863-489e-9b3d-6c3551c2c4b1 998f424a-c098-4c2c-b258-03f0e4c0ea1d g.chr1:180159574G>A ENST00000367602.3 + 10 1221 c.1147G>A c.(1147-1149)Gtt>Att p.V383I QSOX1_ENST00000367600.5_Missense_Mutation_p.V383I O00391 QSOX1_HUMAN quiescin Q6 sulfhydryl oxidase 1 383 cell redox homeostasis|protein thiol-disulfide exchange extracellular space|integral to Golgi membrane flavin-linked sulfhydryl oxidase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 31 TCAGGGTGCCGTTCTTGCCAA 0.542000 31 176 0 0 1 0 0 BRWD3 254065 broad.mit.edu 37 X 79984395 79984395 + Missense_Mutation SNP C C A TCGA-YL-A8HJ-01A-11D-A364-08 TCGA-YL-A8HJ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381043c4-b863-489e-9b3d-6c3551c2c4b1 998f424a-c098-4c2c-b258-03f0e4c0ea1d g.chrX:79984395C>A ENST00000373275.4 - 14 1458 c.1242G>T c.(1240-1242)ttG>ttT p.L414F NM_153252.4 NP_694984.4 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 414 breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3) 87 CTCCAGATGGCAAATTATTGC 0.338000 11 42 7.03913e-09 7.67905e-09 1 1 0 SMPD2 6610 broad.mit.edu 37 6 109763184 109763184 + Missense_Mutation SNP A A T TCGA-YL-A8HJ-01A-11D-A364-08 TCGA-YL-A8HJ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381043c4-b863-489e-9b3d-6c3551c2c4b1 998f424a-c098-4c2c-b258-03f0e4c0ea1d g.chr6:109763184A>T ENST00000258052.3 + 4 591 c.232A>T c.(232-234)Att>Ttt p.I78F NM_003080.2 NP_003071.2 O60906 NSMA_HUMAN sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase) 78 induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|sphingomyelin metabolic process integral to plasma membrane metal ion binding|sphingomyelin phosphodiesterase activity endometrium(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(2) 8 all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548) Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566) CAGCGGAATCATTGGCAGTGG 0.502000 28 156 0 0 1 0 0 CPAMD8 27151 broad.mit.edu 37 19 17057993 17057993 + Silent SNP C C T TCGA-YL-A8HJ-01A-11D-A364-08 TCGA-YL-A8HJ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381043c4-b863-489e-9b3d-6c3551c2c4b1 998f424a-c098-4c2c-b258-03f0e4c0ea1d g.chr19:17057993C>T ENST00000443236.1 - 21 2725 c.2694G>A c.(2692-2694)ggG>ggA p.G898G NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 851 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 TGCCAGGATGCCCAACAAACT 0.602000 4 176 0 0 1 0 0 CD200R1L 344807 broad.mit.edu 37 3 112546090 112546090 + Splice_Site SNP T T C TCGA-YL-A8HJ-01A-11D-A364-08 TCGA-YL-A8HJ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381043c4-b863-489e-9b3d-6c3551c2c4b1 998f424a-c098-4c2c-b258-03f0e4c0ea1d g.chr3:112546090T>C ENST00000488794.1 - 6 957 c.e6-2 CD200R1L_ENST00000448932.1_Splice_Site|CD200R1L_ENST00000398214.1_Splice_Site Q6Q8B3 MO2R2_HUMAN CD200 receptor 1-like integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2) 19 CGGGTGTAACTGCAGAGAGGA 0.428000 10 53 0 0 1 0 0 TSHZ3 57616 broad.mit.edu 37 19 31767790 31767790 + Missense_Mutation SNP T T C TCGA-YL-A8HJ-01A-11D-A364-08 TCGA-YL-A8HJ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381043c4-b863-489e-9b3d-6c3551c2c4b1 998f424a-c098-4c2c-b258-03f0e4c0ea1d g.chr19:31767790T>C ENST00000240587.4 - 2 3236 c.2909A>G c.(2908-2910)gAc>gGc p.D970G NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 970 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) GTGGCCAGTGTCCAAGTTTTT 0.522000 5 43 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10440625 10440625 + Missense_Mutation SNP C C T TCGA-YL-A8HJ-01A-11D-A364-08 TCGA-YL-A8HJ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381043c4-b863-489e-9b3d-6c3551c2c4b1 998f424a-c098-4c2c-b258-03f0e4c0ea1d g.chr17:10440625C>T ENST00000245503.5 - 16 2206 c.1822G>A c.(1822-1824)Gtg>Atg p.V608M CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000532183.1_Missense_Mutation_p.V608M|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.V608M NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 608 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 AGTCCAACCACGGTCTCATTC 0.488000 17 66 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 114326822 114326822 + Missense_Mutation SNP G G A TCGA-YL-A8HJ-01A-11D-A364-08 TCGA-YL-A8HJ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381043c4-b863-489e-9b3d-6c3551c2c4b1 998f424a-c098-4c2c-b258-03f0e4c0ea1d g.chr8:114326822G>A ENST00000297405.5 - 2 623 c.379C>T c.(379-381)Cat>Tat p.H127Y CSMD3_ENST00000455883.2_Missense_Mutation_p.H127Y|CSMD3_ENST00000352409.3_Missense_Mutation_p.H127Y|CSMD3_ENST00000343508.3_Missense_Mutation_p.H87Y NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 127 CUB 1. integral to membrane|plasma membrane p.H87N(1)|p.H127N(1) breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TTTGTAGGATGAGGATGTCCA 0.318000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 9 45 0 0 1 0 0 NR4A3 0 broad.mit.edu 37 9 102590779 102590779 + Missense_Mutation SNP C C T TCGA-YL-A8HJ-01A-11D-A364-08 TCGA-YL-A8HJ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381043c4-b863-489e-9b3d-6c3551c2c4b1 998f424a-c098-4c2c-b258-03f0e4c0ea1d g.chr9:102590779C>T ENST00000330847.1 + 2 532 c.488C>T c.(487-489)gCg>gTg p.A163V NR4A3_ENST00000395097.2_Missense_Mutation_p.A152V|NR4A3_ENST00000338488.4_Missense_Mutation_p.A152V Q92570 NR4A3_HUMAN nuclear receptor subfamily 4, group A, member 3 152 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2) Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189) CCCCCGCAGGCGGGGGCGTTA 0.741000 T EWSR1 extraskeletal myxoid chondrosarcoma 4 28 0 0 1 0 0 XPOT 11260 broad.mit.edu 37 12 64825398 64825398 + Missense_Mutation SNP C C A TCGA-YL-A8HJ-01A-11D-A364-08 TCGA-YL-A8HJ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381043c4-b863-489e-9b3d-6c3551c2c4b1 998f424a-c098-4c2c-b258-03f0e4c0ea1d g.chr12:64825398C>A ENST00000332707.5 + 18 2586 c.2057C>A c.(2056-2058)aCa>aAa p.T686K NM_007235.4 NP_009166.2 O43592 XPOT_HUMAN exportin, tRNA 686 Necessary for tRNA-binding, cytoplasmic localization and nuclear export. intracellular protein transport|tRNA export from nucleus cytoplasm|nucleoplasm protein transporter activity|tRNA binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GBM - Glioblastoma multiforme(28;0.0404) TGTTTACAGACATTCTTGCCA 0.413000 4 51 0.00909568 0.00928921 1 1 0 RP11-680B3.2 0 broad.mit.edu 37 3 148582959 148582960 + RNA INS - - A rs143382113 TCGA-YL-A8HJ-01A-11D-A364-08 TCGA-YL-A8HJ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381043c4-b863-489e-9b3d-6c3551c2c4b1 998f424a-c098-4c2c-b258-03f0e4c0ea1d g.chr3:148582959_148582960insA ENST00000488190.1 - 0 304 TCTCCAGCTGGAAAAAAAAAAC 0.436 2 4 --- --- --- --- MTA1 9112 broad.mit.edu 37 14 105927271 105927271 + Frame_Shift_Del DEL C C - TCGA-YL-A8HJ-01A-11D-A364-08 TCGA-YL-A8HJ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381043c4-b863-489e-9b3d-6c3551c2c4b1 998f424a-c098-4c2c-b258-03f0e4c0ea1d g.chr14:105927271delC ENST00000331320.7 + 10 1137 c.923delC c.(922-924)agfs p.T308fs MTA1_ENST00000406191.1_Frame_Shift_Del_p.T308fs|MTA1_ENST00000405646.1_Frame_Shift_Del_p.T291fs NM_001203258.1|NM_004689.3 NP_001190187.1|NP_004680.2 Q13330 MTA1_HUMAN metastasis associated 1 308 SANT. signal transduction cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1) 14 all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026) Epithelial(152;0.19) AAGGATTTCACGGACATTCAG 0.597 2 4 --- --- --- ---