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 MXRA5 25878 broad.mit.edu 37 X 3248147 3248147 + Silent SNP C C T TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chrX:3248147C>T ENST00000217939.6 - 4 775 c.621G>A c.(619-621)ccG>ccA p.P207P NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 207 extracellular region p.P207P(2) NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) TCTCCAGAAGCGGCATGTTCC 0.453000 6 16 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195484133 195484133 + Missense_Mutation SNP C C G TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chr3:195484133C>G ENST00000463781.3 - 18 15512 c.15053G>C c.(15052-15054)aGt>aCt p.S5018T MUC4_ENST00000349607.4_Missense_Mutation_p.S731T|MUC4_ENST00000475231.1_Missense_Mutation_p.S4966T|MUC4_ENST00000346145.4_Missense_Mutation_p.S782T NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 1775 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) AATCTTGGCACTTCTTGCTAG 0.552000 32 55 0 0 1 0 0 ANKRD20A11P 0 broad.mit.edu 37 21 15352091 15352091 + RNA SNP G G A TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chr21:15352091G>A ENST00000344693.5 - 0 667 NR_027270.1 TCTCCGCGGCGTCGCCCTTGA 0.667000 6 20 0 0 1 0 0 SZT2 23334 broad.mit.edu 37 1 43896293 43896293 + Missense_Mutation SNP C C G TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chr1:43896293C>G ENST00000562955.1 + 31 4436 c.4436C>G c.(4435-4437)aCt>aGt p.T1479S SZT2_ENST00000372442.1_Missense_Mutation_p.T637S NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 1536 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 GACGTAGACACTGTGAATCCT 0.577000 44 81 0 0 1 0 0 PNMA3 29944 broad.mit.edu 37 X 152225469 152225469 + Missense_Mutation SNP G G T TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chrX:152225469G>T ENST00000447306.1 + 2 393 c.57G>T c.(55-57)agG>agT p.R19S PNMA3_ENST00000370265.4_Missense_Mutation_p.R19S|PNMA3_ENST00000370264.4_Missense_Mutation_p.R19S NM_013364.4 NP_037496.3 Q9UL41 PNMA3_HUMAN paraneoplastic Ma antigen 3 19 apoptosis nucleolus nucleic acid binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2) 16 Acute lymphoblastic leukemia(192;6.56e-05) acacccggaggtgcatgctca 0.577000 38 61 3.3946e-10 3.49543e-10 1 1 0 TRRAP 8295 broad.mit.edu 37 7 98497312 98497312 + Missense_Mutation SNP T T C TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chr7:98497312T>C ENST00000359863.4 + 10 931 c.722T>C c.(721-723)cTg>cCg p.L241P TRRAP_ENST00000355540.3_Missense_Mutation_p.L241P|TRRAP_ENST00000446306.3_Missense_Mutation_p.L241P NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 241 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) CTCTACAAACTGAACATCCAC 0.443000 4 156 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152285924 152285924 + Missense_Mutation SNP A A G TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chr1:152285924A>G ENST00000368799.1 - 3 1473 c.1438T>C c.(1438-1440)Tct>Cct p.S480P FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 480 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCATGGGCAGAGTCAGGCTGT 0.612000 Ichthyosis 84 153 0 0 1 0 0 RGN 9104 broad.mit.edu 37 X 46949264 46949264 + Missense_Mutation SNP T T C TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chrX:46949264T>C ENST00000397180.1 + 5 1405 c.436T>C c.(436-438)Tac>Cac p.Y146H RGN_ENST00000457380.1_Intron|RGN_ENST00000336169.3_Missense_Mutation_p.Y146H|RGN_ENST00000352078.4_Missense_Mutation_p.Y146H NM_152869.2 NP_690608.1 Q15493 RGN_HUMAN regucalcin 146 cellular calcium ion homeostasis|positive regulation of ATPase activity|regulation of calcium-mediated signaling cytoplasm|nucleus calcium ion binding|enzyme regulator activity|gluconolactonase activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1) 9 CGTGAAAAAGTACTTTGACCA 0.498000 14 85 0 0 1 0 0 PCDHA7 0 broad.mit.edu 37 5 140215035 140215035 + Missense_Mutation SNP C C G TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chr5:140215035C>G ENST00000525929.1 + 1 1067 c.1067C>G c.(1066-1068)tCt>tGt p.S356C PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.S356C|PCDHA5_ENST00000529859.1_Intron NM_018910.2 NP_061733.1 NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACTTCCCTGTCTCTCCCTATT 0.502000 45 73 0 0 1 0 0 KCNG2 26251 broad.mit.edu 37 18 77624229 77624229 + Missense_Mutation SNP G G C TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chr18:77624229G>C ENST00000316249.3 + 1 562 c.562G>C c.(562-564)Gcc>Ccc p.A188P NM_012283.1 NP_036415.1 Q9UJ96 KCNG2_HUMAN potassium voltage-gated channel, subfamily G, member 2 188 energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion voltage-gated potassium channel complex delayed rectifier potassium channel activity breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4) 18 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244) GTCCTTCGTGGCCGTCACGGC 0.771000 7 14 0 0 1 0 0 PIK3R1 5295 broad.mit.edu 37 5 67591247 67591247 + Splice_Site SNP G G C TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chr5:67591247G>C ENST00000521381.1 + 14 2361 c.e14-1 PIK3R1_ENST00000521657.1_Splice_Site|PIK3R1_ENST00000274335.5_Splice_Site|PIK3R1_ENST00000523872.1_Splice_Site|PIK3R1_ENST00000320694.8_Splice_Site|PIK3R1_ENST00000396611.1_Splice_Site|PIK3R1_ENST00000336483.5_Splice_Site NM_181523.2 NP_852664.1 P27986 P85A_HUMAN phosphoinositide-3-kinase, regulatory subunit 1 (alpha) epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex 1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding p.?(4)|p.Y580fs*1(1)|p.0?(1) breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 178 Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176) OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211) Isoproterenol(DB01064) CTGTTTTTCAGGTGGTTGACT 0.363000 """Mis, F, O""" """gliobastoma, ovarian, colorectal""" TCGA GBM(4;<1E-08) 22 47 0 0 1 0 0 BAK1 578 broad.mit.edu 37 6 33543653 33543653 + Silent SNP G G A TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chr6:33543653G>A ENST00000374467.3 - 3 371 c.123C>T c.(121-123)taC>taT p.Y41Y BAK1_ENST00000360661.5_Silent_p.Y41Y|BAK1_ENST00000442998.2_Silent_p.Y41Y NM_001188.3 NP_001179.1 Q16611 BAK_HUMAN BCL2-antagonist/killer 1 41 activation of pro-apoptotic gene products|cellular response to mechanical stimulus|cellular response to UV|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria integral to mitochondrial outer membrane|pore complex metal ion binding|protein heterodimerization activity large_intestine(1)|lung(1)|ovary(1)|skin(1) 4 GCTGATGGCGGTAAAAAACGT 0.597000 3 60 0 0 1 0 0 DDX10 1662 broad.mit.edu 37 11 108577517 108577517 + Silent SNP T T A TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chr11:108577517T>A ENST00000526794.1 + 10 1307 c.1275T>A c.(1273-1275)gcT>gcA p.A425A DDX10_ENST00000322536.3_Silent_p.A425A Q13206 DDX10_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 425 Helicase C-terminal. ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2) 27 all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729) BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133) CAGAAAAAGCTATGGTGCAGC 0.358000 T NUP98 AML* 81 119 0 0 1 0 0 TAP2 6891 broad.mit.edu 37 6 32782245 32782245 + Silent SNP T T C TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chr6:32782245T>C ENST00000452392.2 - 14 2489 c.2316A>G c.(2314-2316)agA>agG p.R772R HLA-DOB_ENST00000438763.2_Silent_p.R165R Q03519 TAP2_HUMAN transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) 0 antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity nucleus|plasma membrane|TAP complex ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding TGACCCCAGCTCTCTCCTCCT 0.522000 14 132 0 0 1 0 0 XXYLT1 152002 broad.mit.edu 37 3 194790669 194790669 + Silent SNP G G A TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chr3:194790669G>A ENST00000310380.6 - 4 1065 c.957C>T c.(955-957)gcC>gcT p.A319A XXYLT1_ENST00000460582.1_5'UTR|XXYLT1_ENST00000437101.1_Silent_p.A116A|XXYLT1_ENST00000356740.5_Silent_p.A113A|XXYLT1_ENST00000429994.1_Silent_p.A173A|XXYLT1_ENST00000355729.4_Silent_p.A116A NM_152531.4 NP_689744.3 Q8NBI6 CC021_HUMAN xyloside xylosyltransferase 1 319 integral to membrane transferase activity, transferring glycosyl groups GGTACTTGTCGGCCAGCTGCT 0.642000 21 30 0 0 1 0 0 TUBGCP2 10844 broad.mit.edu 37 10 135106174 135106174 + Missense_Mutation SNP C C G TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chr10:135106174C>G ENST00000368563.2 - 8 1399 c.1043G>C c.(1042-1044)gGc>gCc p.G348A TUBGCP2_ENST00000543663.1_Missense_Mutation_p.G376A|TUBGCP2_ENST00000252936.3_Missense_Mutation_p.G348A|TUBGCP2_ENST00000417178.2_Missense_Mutation_p.G218A NM_001256617.1|NM_006659.3 NP_001243546.1|NP_006650.1 Q9BSJ2 GCP2_HUMAN tubulin, gamma complex associated protein 2 348 G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly centrosome|cytoplasmic microtubule|cytosol|spindle pole protein binding breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 35 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05) AAGACATTCGCCTTTGTCCAC 0.622000 8 14 0 0 1 0 0 GTF2IRD1 9569 broad.mit.edu 37 7 73927216 73927216 + Missense_Mutation SNP G G C TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chr7:73927216G>C ENST00000476977.1 + 3 1871 c.180G>C c.(178-180)gaG>gaC p.E60D GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.E60D|GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.E60D|GTF2IRD1_ENST00000265755.3_Missense_Mutation_p.E60D Q9UHL9 GT2D1_HUMAN GTF2I repeat domain containing 1 60 nucleus DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 TGCACGATGAGAGCGCCTTTG 0.607000 15 45 0 0 1 0 0 CRELD2 79174 broad.mit.edu 37 22 50320925 50320925 + Silent SNP G G A rs143871729 TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chr22:50320925G>A ENST00000404488.3 + 11 1314 c.1179G>A c.(1177-1179)ccG>ccA p.P393P CRELD2_ENST00000407217.3_Silent_p.P312P|CRELD2_ENST00000328268.4_Silent_p.P344P|CRELD2_ENST00000403427.3_Silent_p.P316P NM_001135101.1 NP_001128573.1 Q6UXH1 CREL2_HUMAN cysteine-rich with EGF-like domains 2 344 endoplasmic reticulum|extracellular region calcium ion binding endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3) 9 all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236) BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247) GAGAAAGCCCGACACAGCTGC 0.552000 15 71 0 0 1 0 0 ANAPC11 51529 broad.mit.edu 37 17 79857259 79857259 + Missense_Mutation SNP C C G TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chr17:79857259C>G ENST00000357385.3 + 3 387 c.251C>G c.(250-252)tCt>tGt p.S84C ANAPC11_ENST00000577425.1_Intron|ANAPC11_ENST00000583839.1_Intron|ANAPC11_ENST00000572851.2_Intron|ANAPC11_ENST00000392376.3_Intron|ANAPC11_ENST00000574924.2_Intron|ANAPC11_ENST00000571024.2_Intron|ANAPC11_ENST00000578544.1_Intron|ANAPC11_ENST00000575195.2_Intron|ANAPC11_ENST00000571570.1_Intron|ANAPC11_ENST00000571874.2_Intron|ANAPC11_ENST00000344877.5_Intron|ANAPC11_ENST00000579978.1_Intron|ANAPC11_ENST00000578550.1_Intron|ANAPC11_ENST00000572639.1_Intron|ANAPC11_ENST00000579133.1_Intron|ANAPC11_ENST00000577747.1_Intron NM_001002244.1 NP_001002244.1 Q9NYG5 APC11_HUMAN anaphase promoting complex subunit 11 0 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm zinc ion binding kidney(1)|lung(1) 2 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) TCCCTGATGTCTAGGGAAGAG 0.607000 14 21 0 0 1 0 0 ACE 1636 broad.mit.edu 37 17 61560492 61560492 + Missense_Mutation SNP G G A TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chr17:61560492G>A ENST00000290866.4 + 9 1469 c.1445G>A c.(1444-1446)cGt>cAt p.R482H ACE_ENST00000538928.1_Intron|ACE_ENST00000584529.1_Intron|ACE_ENST00000428043.1_Missense_Mutation_p.R482H NM_000789.3 NP_000780.1 P12821 ACE_HUMAN angiotensin I converting enzyme 482 Peptidase M2 1. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) TTTAGTGGGCGTACCCCCCCT 0.552000 7 172 0 0 1 0 0 IL16 3603 broad.mit.edu 37 15 81518014 81518014 + Missense_Mutation SNP G G A TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chr15:81518014G>A ENST00000394660.2 + 2 634 c.274G>A c.(274-276)Gat>Aat p.D92N IL16_ENST00000302987.4_Missense_Mutation_p.D92N NM_001172128.1|NM_172217.3 NP_001165599.1|NP_757366.2 Q14005 IL16_HUMAN interleukin 16 92 immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|extracellular space|nucleus|plasma membrane cytokine activity NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1) 57 AGCTGGGAATGATCGAGGCAA 0.542000 6 23 0 0 1 0 0 KRT1 3848 broad.mit.edu 37 12 53073597 53073597 + Missense_Mutation SNP C C G rs59044845 TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chr12:53073597C>G ENST00000252244.3 - 1 594 c.536G>C c.(535-537)cGa>cCa p.R179P NM_006121.3 NP_006112.3 P04264 K2C1_HUMAN keratin 1 179 Head. Missing (in palmoplantar keratoderma; and mild ichthyosis largely limited to the flexural areas). complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress plasma membrane protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3) 39 CTCCCTTTCTCGAGACTTCAC 0.502000 50 86 0 0 1 0 0 GPRASP1 9737 broad.mit.edu 37 X 101912628 101912628 + Missense_Mutation SNP C C T TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chrX:101912628C>T ENST00000537097.1 + 6 4600 c.3787C>T c.(3787-3789)Cat>Tat p.H1263Y RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000361600.5_Missense_Mutation_p.H1263Y|GPRASP1_ENST00000444152.1_Missense_Mutation_p.H1263Y|GPRASP1_ENST00000415986.1_Missense_Mutation_p.H1263Y NM_001184727.1 NP_001171656.1 Q5JY77 GASP1_HUMAN G protein-coupled receptor associated sorting protein 1 1263 OPRD1-binding. cytoplasm protein binding NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 GATGATTAGACATCTCACTAC 0.403000 52 73 0 0 1 0 0 ARFGEF1 10565 broad.mit.edu 37 8 68116926 68116926 + Missense_Mutation SNP C C G TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chr8:68116926C>G ENST00000262215.3 - 35 5337 c.4948G>C c.(4948-4950)Gct>Cct p.A1650P ARFGEF1_ENST00000518230.1_Missense_Mutation_p.A488P|ARFGEF1_ENST00000520381.1_Missense_Mutation_p.A1104P NM_006421.4 NP_006412.2 Q9Y6D6 BIG1_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) 1650 exocytosis|regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity|myosin binding breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206) TGTGCTGCAGCTAAGTTTTCT 0.433000 36 67 0 0 1 0 0 F8 2157 broad.mit.edu 37 X 154091433 154091433 + Missense_Mutation SNP A A C TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chrX:154091433A>C ENST00000360256.4 - 23 6699 c.6499T>G c.(6499-6501)Tac>Gac p.Y2167D F8_ENST00000330287.6_Missense_Mutation_p.Y32D NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 2167 F5/8 type C 1. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) AAACGGATGTATCGAGCAATA 0.408000 31 59 0 0 1 0 0 MED12 9968 broad.mit.edu 37 X 70339254 70339254 + Missense_Mutation SNP G G C TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chrX:70339254G>C ENST00000333646.6 + 2 330 c.131G>C c.(130-132)gGt>gCt p.G44A MED12_ENST00000374102.1_Missense_Mutation_p.G44A|MED12_ENST00000374080.3_Missense_Mutation_p.G44A NM_005120.2 NP_005111.2 Q93074 MED12_HUMAN mediator complex subunit 12 44 androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding p.G44D(105)|p.G44V(28)|p.G44A(17)|p.?(5)|p.K42_N46del(3)|p.L39_N47del(2)|p.V41_P49del(2)|p.K42_F45del(2)|p.E35_N46del(2)|p.Q43_N46>H(1)|p.V41_D54del(1)|p.A38_N46del(1)|p.V41_S52del(1)|p.L39_V51del(1)|p.N40_P49>F(1)|p.K42_V51del(1)|p.Q43_Q48del(1)|p.A38_S52del(1)|p.N40_G44del(1)|p.V41_N46del(1)|p.K42_G44>N(1)|p.Q43_G44>H(1)|p.G44_Q48del(1) breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3) 420 Renal(35;0.156) GTAAAACAAGGTTTCAATAAC 0.527000 """M, S""" uterine leiomyoma Opitz-Kaveggia Syndrome 6 13 0 0 1 0 0 EMR2 30817 broad.mit.edu 37 19 14866522 14866522 + Missense_Mutation SNP T T C TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chr19:14866522T>C ENST00000315576.3 - 13 1811 c.1360A>G c.(1360-1362)Agc>Ggc p.S454G EMR2_ENST00000353005.1_Missense_Mutation_p.S312G|EMR2_ENST00000594294.1_Missense_Mutation_p.S405G|EMR2_ENST00000595839.1_Missense_Mutation_p.S312G|EMR2_ENST00000346057.1_Missense_Mutation_p.S405G|EMR2_ENST00000596991.2_Missense_Mutation_p.S443G|EMR2_ENST00000601345.1_Missense_Mutation_p.S443G|EMR2_ENST00000392965.3_Missense_Mutation_p.S454G|EMR2_ENST00000392964.3_Intron|EMR2_ENST00000353876.1_Missense_Mutation_p.S361G|EMR2_ENST00000392967.2_Missense_Mutation_p.S443G|EMR2_ENST00000594076.1_Missense_Mutation_p.S361G NM_013447.2 NP_038475.2 Q9UHX3 EMR2_HUMAN egf-like module containing, mucin-like, hormone receptor-like 2 454 cell adhesion|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 48 TCGTTGTTGCTCAGAAAGGCA 0.557000 55 78 0 0 1 0 0 ACPP 55 broad.mit.edu 37 3 132068806 132068806 + Missense_Mutation SNP C C G TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chr3:132068806C>G ENST00000336375.5 + 8 914 c.824C>G c.(823-825)aCt>aGt p.T275S ACPP_ENST00000475741.1_Missense_Mutation_p.T242S|ACPP_ENST00000351273.7_Missense_Mutation_p.T275S NM_001099.4 NP_001090.2 P15309 PPAP_HUMAN acid phosphatase, prostate 275 extracellular region|lysosomal membrane 5'-nucleotidase activity|acid phosphatase activity NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 27 AAGAGAGCAACTCAGATACCA 0.348000 24 43 0 0 1 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37486356 37486356 + Missense_Mutation SNP G G C TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chr10:37486356G>C ENST00000374660.1 + 35 2952 c.2853G>C c.(2851-2853)aaG>aaC p.K951N ANKRD30A_ENST00000361713.1_Missense_Mutation_p.K832N|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.K832N Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 1000 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 AAATGCAAAAGTCTGTTCCAA 0.308000 4 208 0 0 1 0 0 SRRT 51593 broad.mit.edu 37 7 100478923 100478923 + Missense_Mutation SNP G G A TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chr7:100478923G>A ENST00000388793.4 + 3 360 c.140G>A c.(139-141)cGt>cAt p.R47H SRRT_ENST00000432932.1_Missense_Mutation_p.R47H|SRRT_ENST00000347433.4_Missense_Mutation_p.R47H|SRRT_ENST00000457580.2_Missense_Mutation_p.R47H NM_001128852.1|NM_015908.5 NP_001122324.1|NP_056992.4 Q9BXP5 SRRT_HUMAN serrate RNA effector molecule homolog (Arabidopsis) 47 Arg-rich. cell proliferation|primary miRNA processing|response to arsenic-containing substance cytoplasm|nucleoplasm protein binding breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 GACCGTGGCCGTGAGCGCCGT 0.582000 72 113 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9067115 9067115 + Missense_Mutation SNP C C G TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chr19:9067115C>G ENST00000397910.4 - 3 20534 c.20331G>C c.(20329-20331)atG>atC p.M6777I NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 6779 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGACAGTGGTCATTTCTGAGT 0.493000 81 102 0 0 1 0 0 YLPM1 56252 broad.mit.edu 37 14 75266314 75266314 + Silent SNP T T G TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chr14:75266314T>G ENST00000325680.7 + 5 4438 c.4314T>G c.(4312-4314)tcT>tcG p.S1438S YLPM1_ENST00000552421.1_Intron|YLPM1_ENST00000238571.3_Silent_p.S1243S NM_019589.2 NP_062535.2 P49750 YLPM1_HUMAN YLP motif containing 1 1243 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 62 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) GCTTAGACTCTGACCAAGGCC 0.483000 46 49 0 0 1 0 0 ORC3 23595 broad.mit.edu 37 6 88374460 88374460 + Splice_Site SNP G G C TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chr6:88374460G>C ENST00000392844.3 + 18 1881 c.e18-1 ORC3_ENST00000546266.1_Splice_Site|ORC3_ENST00000257789.4_Splice_Site NM_012381.3|NM_181837.2 NP_036513.2|NP_862820.1 Q9UBD5 ORC3_HUMAN origin recognition complex, subunit 3 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle nuclear origin of replication recognition complex|nucleoplasm DNA replication origin binding|protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 28 TTAATTGTTAGAATGAAGCAC 0.383000 34 43 0 0 1 0 0 SERPINE1 5054 broad.mit.edu 37 7 100780300 100780300 + Missense_Mutation SNP G G A TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chr7:100780300G>A ENST00000223095.4 + 8 1263 c.1106G>A c.(1105-1107)cGc>cAc p.R369H SERPINE1_ENST00000445463.2_Missense_Mutation_p.R354H NM_000602.4 NP_000593.1 P05121 PAI1_HUMAN serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 369 Reactive bond. angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen protease binding|serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3) 20 Lung NSC(181;0.136)|all_lung(186;0.182) Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013) GTCTCAGCCCGCATGGCCCCC 0.582000 3 74 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_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 35 43 0 0 1 0 0 MAP7D3 79649 broad.mit.edu 37 X 135310868 135310868 + Silent SNP T T C TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chrX:135310868T>C ENST00000316077.9 - 11 2020 c.1800A>G c.(1798-1800)acA>acG p.T600T MAP7D3_ENST00000370661.1_Silent_p.T565T|MAP7D3_ENST00000370663.5_Silent_p.T582T|MAP7D3_ENST00000495432.1_5'UTR NM_024597.3 NP_078873.2 Q8IWC1 MA7D3_HUMAN MAP7 domain containing 3 600 cytoplasm|spindle central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1) 44 Acute lymphoblastic leukemia(192;0.000127) TCAAAATTTTTGTTGCCGCCT 0.408000 30 108 0 0 1 0 0 KRT28 162605 broad.mit.edu 37 17 38953433 38953433 + Missense_Mutation SNP G G A TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chr17:38953433G>A ENST00000306658.7 - 4 856 c.791C>T c.(790-792)gCg>gTg p.A264V NM_181535.3 NP_853513.2 Q7Z3Y7 K1C28_HUMAN keratin 28 264 Coil 2.|Rod. cytoplasm|intermediate filament structural molecule activity NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 30 Breast(137;0.000301) TTCGTACTCCGCTCGCATGTT 0.637000 14 61 0 0 1 0 0 OIT3 170392 broad.mit.edu 37 10 74692199 74692199 + Missense_Mutation SNP C C T TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chr10:74692199C>T ENST00000334011.5 + 9 1773 c.1555C>T c.(1555-1557)Cgt>Tgt p.R519C NM_152635.1 NP_689848.1 Q8WWZ8 OIT3_HUMAN oncoprotein induced transcript 3 519 nuclear envelope calcium ion binding autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2) 35 Prostate(51;0.0198) GCGAATGCGTCGTGGGGCAGG 0.612000 9 76 0 0 1 0 0 TACC2 10579 broad.mit.edu 37 10 123846263 123846263 + Silent SNP C C T TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chr10:123846263C>T ENST00000369005.1 + 4 4588 c.4248C>T c.(4246-4248)ttC>ttT p.F1416F TACC2_ENST00000453444.2_Silent_p.F1416F|TACC2_ENST00000515273.1_Silent_p.F1416F|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000334433.3_Silent_p.F1416F|TACC2_ENST00000515603.1_Silent_p.F1416F|TACC2_ENST00000358010.1_Intron NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 1416 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) CCAAGATCTTCGAGAAGCCTG 0.592000 3 48 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135405259 135405259 + Silent SNP C C A TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chrX:135405259C>A ENST00000394143.1 + 5 684 c.393C>A c.(391-393)ggC>ggA p.G131G GPR112_ENST00000412101.1_Intron|GPR112_ENST00000394141.1_Intron|GPR112_ENST00000370652.1_Silent_p.G131G|GPR112_ENST00000287534.4_Silent_p.G68G NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 131 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) GTGTGAAGGGCAAATTAGAAC 0.428000 49 80 2.24722e-20 2.36072e-20 1 1 0 FAT1 2195 broad.mit.edu 37 4 187542106 187542106 + Silent SNP C C A TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chr4:187542106C>A ENST00000441802.2 - 10 5843 c.5634G>T c.(5632-5634)gtG>gtT p.V1878V NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 1878 Cadherin 16. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 GCTTGGCAAACACAGGGGGGC 0.408000 HNSCC(5;0.00058) 4 42 0.150653 0.152116 1 1 0 CDH24 64403 broad.mit.edu 37 14 23517549 23517549 + Missense_Mutation SNP G G C TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chr14:23517549G>C ENST00000397359.3 - 13 2359 c.2100C>G c.(2098-2100)atC>atG p.I700M CDH24_ENST00000554034.1_Missense_Mutation_p.I662M|CDH24_ENST00000267383.5_Missense_Mutation_p.I700M|CDH24_ENST00000487137.2_Missense_Mutation_p.I662M|CDH24_ENST00000485922.1_5'UTR NM_022478.3 NP_071923.2 Q86UP0 CAD24_HUMAN cadherin 24, type 2 700 adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 26 all_cancers(95;3.3e-05) GBM - Glioblastoma multiforme(265;0.00654) GCAAGGCCGTGATGTCGAAGG 0.711000 47 65 0 0 1 0 0 MIR519A1 0 broad.mit.edu 37 19 54255706 54255706 + RNA SNP G G C TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chr19:54255706G>C ENST00000385257.1 + 0 56 NR_030218.1 AGAAAGGAAAGTGCATCCTTT 0.413000 52 32 0 0 1 0 0 RGS19 10287 broad.mit.edu 37 20 62705641 62705641 + Silent SNP C C T rs140669717 TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chr20:62705641C>T ENST00000395042.1 - 5 584 c.318G>A c.(316-318)gcG>gcA p.A106A RGS19_ENST00000332298.5_Silent_p.A106A NM_005873.2 NP_005864.1 P49795 RGS19_HUMAN regulator of G-protein signaling 19 106 RGS. autophagy|G-protein coupled receptor protein signaling pathway|negative regulation of signal transduction|small GTPase mediated signal transduction Golgi apparatus|membrane fraction|plasma membrane GTPase activator activity|protein binding|signal transducer activity lung(1)|prostate(1)|skin(1) 3 all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09) TCCGCAGGAACGCCCGGAACA 0.622000 4 34 0 0 1 0 0 ILF3 3609 broad.mit.edu 37 19 10795094 10795094 + Missense_Mutation SNP G G C TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chr19:10795094G>C ENST00000407004.3 + 18 2324 c.2074G>C c.(2074-2076)Gac>Cac p.D692H ILF3_ENST00000420083.1_Intron|ILF3_ENST00000590261.1_Intron|ILF3_ENST00000592763.1_3'UTR|ILF3_ENST00000588657.1_Intron|ILF3_ENST00000449870.1_Intron|ILF3_ENST00000318511.3_Intron|ILF3_ENST00000589998.1_Missense_Mutation_p.D688H|ILF3_ENST00000250241.8_Intron NM_001137673.1 NP_001131145.1 Q12906 ILF3_HUMAN interleukin enhancer binding factor 3, 90kDa 688 Interaction with PRMT1. M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleolus|ribonucleoprotein complex DNA binding|double-stranded RNA binding|protein binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 Epithelial(33;6.86e-06)|all cancers(31;1.65e-05) TTTTGTAGGTGACTTTTTCAC 0.388000 48 92 0 0 1 0 0 OR2T10 127069 broad.mit.edu 37 1 248757066 248757066 + Missense_Mutation SNP G G A TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chr1:248757066G>A ENST00000330500.2 - 1 34 c.4C>T c.(4-6)Cgg>Tgg p.R2W NM_001004693.1 NP_001004693.1 Q8NGZ9 O2T10_HUMAN olfactory receptor, family 2, subfamily T, member 10 2 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1) 26 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TTGGCCAGCCGCATGCTGTAT 0.453000 8 71 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577124 7577124 + Missense_Mutation SNP C C T rs121912657 TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chr17:7577124C>T ENST00000420246.2 - 8 946 c.814G>A c.(814-816)Gtg>Atg p.V272M TP53_ENST00000269305.4_Missense_Mutation_p.V272M|TP53_ENST00000445888.2_Missense_Mutation_p.V272M|TP53_ENST00000455263.2_Missense_Mutation_p.V272M|TP53_ENST00000359597.4_Missense_Mutation_p.V272M|TP53_ENST00000413465.2_Intron NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 272 Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity). V -> A (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.V272M(82)|p.V272L(26)|p.0?(8)|p.V272fs*73(4)|p.?(2)|p.F270fs*72(1)|p.E271fs*73(1)|p.V272fs*34(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.G266_E271delGRNSFE(1)|p.V272fs*74(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CAAACACGCACCTCAAAGCTG 0.527000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 18 16 0 0 1 0 0 TSIX 0 broad.mit.edu 37 X 73041569 73041569 + RNA SNP A A G TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chrX:73041569A>G ENST00000604411.1 + 0 29530 XIST_ENST00000429829.1_lincRNA NR_003255.2 AAGCCCAGCCAGGCCTACATT 0.358000 4 11 0 0 1 0 0 TSSC2 0 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 4 32 0 0 1 0 0 PTPLAD1 51495 broad.mit.edu 37 15 65847277 65847277 + Silent SNP C C T TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chr15:65847277C>T ENST00000261875.5 + 3 349 c.183C>T c.(181-183)ttC>ttT p.F61F PTPLAD1_ENST00000566074.1_5'UTR|PTPLAD1_ENST00000566511.1_5'UTR|PTPLAD1_ENST00000562901.1_5'UTR|PTPLAD1_ENST00000565299.1_Silent_p.F99F|PTPLAD1_ENST00000442729.2_Silent_p.F61F|PTPLAD1_ENST00000568793.1_Silent_p.F36F|PTPLAD1_ENST00000569894.1_5'UTR NM_016395.2 NP_057479.2 Q9P035 HACD3_HUMAN protein tyrosine phosphatase-like A domain containing 1 61 CS. activation of JUN kinase activity|fatty acid biosynthetic process|I-kappaB kinase/NF-kappaB cascade|Rac protein signal transduction endoplasmic reticulum membrane|integral to membrane GTPase activator activity|lyase activity|protein binding NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|pancreas(1) 5 ACCTGGAGTTCTTAGACCTTG 0.423000 40 79 0 0 1 0 0 DSTYK 25778 broad.mit.edu 37 1 205126503 205126503 + Silent SNP G G A TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chr1:205126503G>A ENST00000367162.3 - 10 2280 c.2250C>T c.(2248-2250)acC>acT p.T750T DSTYK_ENST00000367161.3_Silent_p.T750T|DSTYK_ENST00000367160.4_Intron NM_015375.2 NP_056190.1 Q6XUX3 DUSTY_HUMAN dual serine/threonine and tyrosine protein kinase 750 Protein kinase. cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2) 14 GTGTCTCCAGGGTCAGCCCAG 0.483000 7 53 0 0 1 0 0 GLRB 2743 broad.mit.edu 37 4 158057967 158057967 + Missense_Mutation SNP C C G TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chr4:158057967C>G ENST00000264428.4 + 6 809 c.539C>G c.(538-540)aCt>aGt p.T180S GLRB_ENST00000512619.1_Intron|GLRB_ENST00000509282.1_Missense_Mutation_p.T180S|GLRB_ENST00000541722.1_Missense_Mutation_p.T180S NM_000824.4 NP_000815.1 P48167 GLRB_HUMAN glycine receptor, beta 180 nervous system development|neuropeptide signaling pathway|startle response cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|protein binding|receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1) 27 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707) Glycine(DB00145) TTATCTATTACTCTTTCATGC 0.343000 23 41 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135485410 135485410 + Silent SNP G G A TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chrX:135485410G>A ENST00000394143.1 + 22 8874 c.8583G>A c.(8581-8583)ccG>ccA p.P2861P GPR112_ENST00000412101.1_Silent_p.P2656P|GPR112_ENST00000394141.1_Silent_p.P2656P|GPR112_ENST00000370652.1_Silent_p.P2861P|GPR112_ENST00000287534.4_Silent_p.P2614P NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 2861 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) CAGGAATCCCGGCTATCATGG 0.458000 21 29 0 0 1 0 0 PVRL3 25945 broad.mit.edu 37 3 110837743 110837743 + Missense_Mutation SNP T T C TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chr3:110837743T>C ENST00000485303.1 + 3 1018 c.743T>C c.(742-744)gTa>gCa p.V248A PVRL3_ENST00000493615.1_Missense_Mutation_p.V225A|PVRL3_ENST00000319792.3_Missense_Mutation_p.V248A NM_001243286.1|NM_015480.2 NP_001230215.1|NP_056295.1 Q9NQS3 PVRL3_HUMAN poliovirus receptor-related 3 248 Ig-like C2-type 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane cell adhesion molecule binding|protein homodimerization activity breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3) 19 ACTTGTGTTGTAAAACATCCA 0.363000 13 79 0 0 1 0 0 NEDD4 4734 broad.mit.edu 37 15 56155250 56155250 + Missense_Mutation SNP C C G TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chr15:56155250C>G ENST00000508342.1 - 5 2091 c.1792G>C c.(1792-1794)Gat>Cat p.D598H NEDD4_ENST00000435532.3_Missense_Mutation_p.D179H|NEDD4_ENST00000338963.2_Missense_Mutation_p.D526H|NEDD4_ENST00000506154.1_Intron P46934 NEDD4_HUMAN neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase 598 Mediates interaction with TNIK (By similarity). development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113) CAAGCAGCATCTGGTTGGTCC 0.423000 17 26 0 0 1 0 0 ADAMTS9 56999 broad.mit.edu 37 3 64644310 64644310 + Missense_Mutation SNP C C G TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chr3:64644310C>G ENST00000498707.1 - 4 1179 c.837G>C c.(835-837)aaG>aaC p.K279N ADAMTS9_ENST00000459780.1_Missense_Mutation_p.K279N|ADAMTS9_ENST00000295903.4_Missense_Mutation_p.K279N NM_182920.1 NP_891550.1 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 9 279 glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 100 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) TGTGGGTCCTCTTTTCTCTTG 0.438000 79 118 0 0 1 0 0 ATRX 546 broad.mit.edu 37 X 76813056 76813056 + Missense_Mutation SNP C C G TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chrX:76813056C>G ENST00000373344.5 - 30 6779 c.6565G>C c.(6565-6567)Gtt>Ctt p.V2189L ATRX_ENST00000395603.3_Missense_Mutation_p.V2151L|ATRX_ENST00000480283.1_5'UTR NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 2189 Helicase C-terminal. DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) TGATCAACAACTCGAAAAGAC 0.343000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 76 95 0 0 1 0 0 AKAP8 10270 broad.mit.edu 37 19 15483080 15483080 + Missense_Mutation SNP G G C TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chr19:15483080G>C ENST00000269701.2 - 6 1000 c.940C>G c.(940-942)Cca>Gca p.P314A NM_005858.3 NP_005849.1 O43823 AKAP8_HUMAN A kinase (PRKA) anchor protein 8 314 signal transduction nuclear matrix breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2) 26 TTGGTGTCTGGCTCCTCGTAA 0.572000 21 22 0 0 1 0 0 LGI1 9211 broad.mit.edu 37 10 95556899 95556899 + Missense_Mutation SNP T T A TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chr10:95556899T>A ENST00000371418.4 + 8 1273 c.1013T>A c.(1012-1014)tTc>tAc p.F338Y LGI1_ENST00000542308.1_Missense_Mutation_p.F290Y|LGI1_ENST00000371413.3_Intron NM_005097.2 NP_005088.1 O95970 LGI1_HUMAN leucine-rich, glioma inactivated 1 338 axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission cell junction|extracellular space|synapse receptor binding central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1) 29 Colorectal(252;0.124) ATTGAAACATTCAAGATTGAA 0.353000 22 42 0 0 1 0 0 CLDN16 10686 broad.mit.edu 37 3 190127816 190127816 + Silent SNP A A C TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chr3:190127816A>C ENST00000264734.2 + 5 1157 c.909A>C c.(907-909)acA>acC p.T303T NM_006580.3 NP_006571.1 Q9Y5I7 CLD16_HUMAN claudin 16 303 calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion integral to membrane|tight junction identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1) 19 all_cancers(143;3.61e-10)|Ovarian(172;0.0991) Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05) GBM - Glioblastoma multiforme(93;0.018) CTGTAGACACAAGGGTGTAAA 0.423000 29 48 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577121 7577121 + Missense_Mutation SNP G G A rs121913343 TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chr17:7577121G>A ENST00000420246.2 - 8 949 c.817C>T c.(817-819)Cgt>Tgt p.R273C TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 273 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GCACAAACACGCACCTCAAAG 0.542000 R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID) 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 8 28 0 0 1 0 0 DDX39B 7919 broad.mit.edu 37 6 31508266 31508266 + Missense_Mutation SNP T T C TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chr6:31508266T>C ENST00000417556.2 - 2 674 c.44A>G c.(43-45)gAt>gGt p.D15G DDX39B_ENST00000458640.1_Missense_Mutation_p.D15G|DDX39B_ENST00000453105.2_Missense_Mutation_p.M11V|DDX39B_ENST00000449074.2_Missense_Mutation_p.D15G|DDX39B_ENST00000396172.1_Missense_Mutation_p.D15G|DDX39B_ENST00000376177.2_Missense_Mutation_p.D15G|DDX39B_ENST00000415382.2_Missense_Mutation_p.M11V|ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR Q13838 DX39B_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B 15 intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly nuclear speck|spliceosomal complex|transcription export complex ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 19 CACCTCATCATCTTCATAGTC 0.557000 8 80 0 0 1 0 0 EPHA3 2042 broad.mit.edu 37 3 89390202 89390202 + Silent SNP T T C TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chr3:89390202T>C ENST00000336596.2 + 4 1176 c.951T>C c.(949-951)ccT>ccC p.P317P EPHA3_ENST00000452448.2_Silent_p.P317P|EPHA3_ENST00000494014.1_Silent_p.P317P NM_005233.5 NP_005224.2 P29320 EPHA3_HUMAN EPH receptor A3 317 Cys-rich. extracellular region|integral to plasma membrane ATP binding NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) ACAAAGACCCTCCATCCATGG 0.433000 TSP Lung(6;0.00050) 64 80 0 0 1 0 0 MYH8 4626 broad.mit.edu 37 17 10296215 10296215 + Missense_Mutation SNP C C T TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chr17:10296215C>T ENST00000403437.2 - 37 5490 c.5396G>A c.(5395-5397)cGt>cAt p.R1799H CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 1799 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 CTCATCTAGACGATGCTGCAG 0.577000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 4 171 0 0 1 0 0 LRRC7 57554 broad.mit.edu 37 1 70509663 70509663 + Silent SNP T T G TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chr1:70509663T>G ENST00000035383.5 + 20 3912 c.3882T>G c.(3880-3882)gtT>gtG p.V1294V LRRC7_ENST00000415775.2_Silent_p.V578V|LRRC7_ENST00000310961.5_Intron NM_020794.2 NP_065845.1 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 1294 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 ACAATACAGTTAACCTTGGCA 0.388000 30 43 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126402777 126402777 + Nonsense_Mutation SNP C C T TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chr4:126402777C>T ENST00000394329.3 + 15 12713 c.12700C>T c.(12700-12702)Cga>Tga p.R4234* FAT4_ENST00000335110.5_Nonsense_Mutation_p.R2475* NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 4234 Laminin G-like 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 GCAAAGCTTACGAGGTGCCAT 0.443000 11 87 0 0 1 0 0 SCN3A 6328 broad.mit.edu 37 2 165970412 165970412 + Missense_Mutation SNP G G C TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chr2:165970412G>C ENST00000360093.3 - 20 4074 c.3583C>G c.(3583-3585)Ctt>Gtt p.L1195V SCN3A_ENST00000409101.3_Missense_Mutation_p.L1146V|SCN3A_ENST00000283254.7_Missense_Mutation_p.L1195V NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 1195 voltage-gated sodium channel complex voltage-gated sodium channel activity p.L1195I(1) NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) GTTTTTCGAAGATTCCACCAG 0.343000 66 81 0 0 1 0 0 WIPI1 55062 broad.mit.edu 37 17 66446947 66446947 + Silent SNP C C G TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chr17:66446947C>G ENST00000262139.5 - 3 254 c.255G>C c.(253-255)gtG>gtC p.V85V WIPI1_ENST00000589459.1_5'UTR|WIPI1_ENST00000546360.1_Silent_p.V3V NM_017983.5 NP_060453.3 Q5MNZ9 WIPI1_HUMAN WD repeat domain, phosphoinositide interacting 1 85 macroautophagy|vesicle targeting, trans-Golgi to endosome autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 18 TGAAGTGATACACGTTCATCT 0.512000 62 84 0 0 1 0 0 GALNT1 2589 broad.mit.edu 37 18 33283593 33283593 + Nonsense_Mutation SNP G G T TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chr18:33283593G>T ENST00000269195.5 + 10 1622 c.1519G>T c.(1519-1521)Gag>Tag p.E507* GALNT1_ENST00000537549.1_Nonsense_Mutation_p.E447* NM_020474.3 NP_065207.2 Q10472 GALT1_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1) 507 Ricin B-type lectin. protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1) 21 CCAACTCTGGGAGTATGACCC 0.368000 36 62 5.71845e-15 5.94719e-15 1 1 0 RTDR1 27156 broad.mit.edu 37 22 23401887 23401887 + Missense_Mutation SNP G G A TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chr22:23401887G>A ENST00000216036.4 - 7 996 c.800C>T c.(799-801)gCg>gTg p.A267V NM_014433.2 NP_055248.1 Q9UHP6 RTDR1_HUMAN rhabdoid tumor deletion region gene 1 267 binding p.A267V(1) breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 18 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.175) CTCCAGGGCCGCATACTTCCC 0.632000 4 96 0 0 1 0 0 TXNDC2 0 broad.mit.edu 37 18 9886894 9886894 + Missense_Mutation SNP A A G rs146821851 TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chr18:9886894A>G ENST00000306084.6 + 2 617 c.418A>G c.(418-420)Aaa>Gaa p.K140E TXNDC2_ENST00000426718.3_3'UTR|TXNDC2_ENST00000536353.2_Missense_Mutation_p.K73E|TXNDC2_ENST00000584255.1_3'UTR|TXNDC2_ENST00000357775.4_Missense_Mutation_p.K73E NM_001098529.1 NP_001091999.1 Q86VQ3 TXND2_HUMAN thioredoxin domain containing 2 (spermatozoa) 140 22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I. cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity p.K140E(2)|p.K73E(2) NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1) 31 GTCCTCAGAAAAAGCCATCCA 0.547000 4 104 0 0 1 0 0 HTATSF1 27336 broad.mit.edu 37 X 135591290 135591290 + Missense_Mutation SNP G G C TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chrX:135591290G>C ENST00000535601.1 + 8 1297 c.875G>C c.(874-876)cGa>cCa p.R292P HTATSF1_ENST00000218364.4_Missense_Mutation_p.R292P NM_001163280.1 NP_001156752.1 O43719 HTSF1_HUMAN HIV-1 Tat specific factor 1 292 RRM 2. regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication nucleus nucleotide binding|protein binding|RNA binding NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1) 30 Acute lymphoblastic leukemia(192;0.000127) GAAGACCTTCGAGTAGAGTGT 0.388000 13 104 0 0 1 0 0 ROR2 4920 broad.mit.edu 37 9 94486331 94486331 + Silent SNP C C T TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chr9:94486331C>T ENST00000375708.3 - 9 2643 c.2445G>A c.(2443-2445)ccG>ccA p.P815P ROR2_ENST00000375715.1_Intron|ROR2_ENST00000550066.1_5'UTR NM_004560.3 NP_004551.2 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 815 Pro-rich. negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 CGTAGAGCTGCGGCGGGGGCA 0.677000 11 36 0 0 1 0 0 DYNC2H1 79659 broad.mit.edu 37 11 103058176 103058176 + Missense_Mutation SNP C C T TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chr11:103058176C>T ENST00000375735.2 + 43 7145 c.7001C>T c.(7000-7002)aCt>aTt p.T2334I DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.T2334I NM_001080463.1|NM_001377.2 NP_001073932.1|NP_001368.2 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 2334 AAA 3 (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) CTGAGCCAGACTTGCATGGTA 0.418000 49 81 0 0 1 0 0 SLC15A2 6565 broad.mit.edu 37 3 121634491 121634491 + Missense_Mutation SNP C C G TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chr3:121634491C>G ENST00000489711.1 + 7 1036 c.648C>G c.(646-648)tgC>tgG p.C216W SLC15A2_ENST00000295605.2_Missense_Mutation_p.C185W NM_021082.3 NP_066568.3 Q16348 S15A2_HUMAN solute carrier family 15 (oligopeptide transporter), member 2 216 protein transport integral to plasma membrane peptide:hydrogen symporter activity|protein binding NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(114;0.0967) Cefadroxil(DB01140) GAGAAGACTGCTATGCATTGG 0.398000 53 105 0 0 1 0 0 CDC27 996 broad.mit.edu 37 17 45199936 45199936 + Missense_Mutation SNP C C T TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chr17:45199936C>T ENST00000066544.3 - 18 2359 c.2266G>A c.(2266-2268)Gcc>Acc p.A756T CDC27_ENST00000527547.1_Missense_Mutation_p.A755T|CDC27_ENST00000531206.1_Missense_Mutation_p.A762T|CDC27_ENST00000446365.2_Missense_Mutation_p.A695T NM_001114091.1|NM_001256.3 NP_001107563.1|NP_001247.3 P30260 CDC27_HUMAN cell division cycle 27 756 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 TTCATCAGGGCGAGGTGCGTT 0.358000 30 68 0 0 1 0 0 SMURF2P1 0 broad.mit.edu 37 17 28935540 28935540 + RNA SNP G G A rs144598799 by1000genomes TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chr17:28935540G>A ENST00000578265.1 + 0 193 CGTTGTGTTCGTCTTTTTCCA 0.363000 4 39 0 0 1 0 0 PDZRN4 29951 broad.mit.edu 37 12 41966618 41966618 + Missense_Mutation SNP G G C TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chr12:41966618G>C ENST00000298919.7 + 10 1645 c.1257G>C c.(1255-1257)gaG>gaC p.E419D PDZRN4_ENST00000539469.2_Missense_Mutation_p.E421D|PDZRN4_ENST00000402685.2_Missense_Mutation_p.E679D Q6ZMN7 PZRN4_HUMAN PDZ domain containing ring finger 4 679 PDZ 2. ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 77 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) TTGAGCTTGAGTGTCAGAATA 0.448000 24 38 0 0 1 0 0 ZWINT 0 broad.mit.edu 37 10 58118576 58118576 + Missense_Mutation SNP T T G TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chr10:58118576T>G ENST00000373944.3 - 6 651 c.613A>C c.(613-615)Aag>Cag p.K205Q ZWINT_ENST00000395405.1_Missense_Mutation_p.K205Q|ZWINT_ENST00000361148.6_Intron|ZWINT_ENST00000460654.1_5'UTR|ZWINT_ENST00000318387.2_Missense_Mutation_p.K85Q O95229 ZWINT_HUMAN ZW10 interacting kinetochore protein 205 cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization condensed chromosome kinetochore|cytosol|nucleus protein N-terminus binding NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1) 20 CTCTGCAGCTTGTCCCGCTCC 0.522000 17 91 0 0 1 0 0 E2F5 1875 broad.mit.edu 37 8 86115377 86115377 + Silent SNP A A G TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chr8:86115377A>G ENST00000418930.2 + 3 589 c.393A>G c.(391-393)agA>agG p.R131R E2F5_ENST00000416274.2_Silent_p.R131R|E2F5_ENST00000517476.1_5'UTR|E2F5_ENST00000519128.1_3'UTR|E2F5_ENST00000521429.1_5'UTR|E2F5_ENST00000256117.5_Silent_p.R131R Q15329 E2F5_HUMAN E2F transcription factor 5, p130-binding 131 Dimerization (Potential). G1 phase of mitotic cell cycle transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1) 8 ATAGATTAAGATATCTTAAAG 0.343000 8 12 0 0 1 0 0 GATA3 2625 broad.mit.edu 37 10 8100475 8100475 + Missense_Mutation SNP T T C TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chr10:8100475T>C ENST00000379328.3 + 3 1017 c.449T>C c.(448-450)cTc>cCc p.L150P GATA3_ENST00000346208.3_Missense_Mutation_p.L150P|GATA3_ENST00000461472.1_3'UTR NM_001002295.1|NM_002051.2 NP_001002295.1|NP_002042.1 P23771 GATA3_HUMAN GATA binding protein 3 150 aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development nuclear chromatin|nucleolus|nucleoplasm core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2) 87 AGCCCGCACCTCTTCACCTTC 0.721000 """F, N, S""" breast """HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)""" 13 30 0 0 1 0 0 GALNT1 2589 broad.mit.edu 37 18 33283583 33283583 + Missense_Mutation SNP C C G TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chr18:33283583C>G ENST00000269195.5 + 10 1612 c.1509C>G c.(1507-1509)aaC>aaG p.N503K GALNT1_ENST00000537549.1_Missense_Mutation_p.N443K NM_020474.3 NP_065207.2 Q10472 GALT1_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1) 503 Ricin B-type lectin. protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding p.N503N(1) autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1) 21 TAAAAGGCAACCAACTCTGGG 0.373000 37 66 0 0 1 0 0 EMP2 2013 broad.mit.edu 37 16 10631921 10631921 + Silent SNP C C T rs61731468 byFrequency TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chr16:10631921C>T ENST00000359543.3 - 4 389 c.180G>A c.(178-180)acG>acA p.T60T EMP2_ENST00000536829.1_Silent_p.T60T NM_001424.4 NP_001415.1 P54851 EMP2_HUMAN epithelial membrane protein 2 60 cell proliferation integral to membrane p.T60T(1) NS(1)|endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 6 CCGCCTGCAGCGTGGAGTACT 0.622000 4 93 0 0 1 0 0 OR10G2 26534 broad.mit.edu 37 14 22102379 22102379 + Missense_Mutation SNP T T C TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chr14:22102379T>C ENST00000542433.1 - 1 717 c.620A>G c.(619-621)gAc>gGc p.D207G NM_001005466.1 NP_001005466.1 Q8NGC3 O10G2_HUMAN olfactory receptor, family 10, subfamily G, member 2 207 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2) 22 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0142) TACCCTGACGTCCACAAAGGT 0.522000 22 22 0 0 1 0 0 UGT2A3 79799 broad.mit.edu 37 4 69817371 69817371 + Missense_Mutation SNP C C A TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chr4:69817371C>A ENST00000251566.4 - 1 138 c.108G>T c.(106-108)tgG>tgT p.W36C NM_024743.3 NP_079019.3 Q6UWM9 UD2A3_HUMAN UDP glucuronosyltransferase 2 family, polypeptide A3 36 integral to membrane glucuronosyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 TGACATTAAGCCAATGGCTCA 0.473000 14 75 0.000308642 0.000314694 1 1 0 MYH1 4619 broad.mit.edu 37 17 10411733 10411733 + Missense_Mutation SNP G G A TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chr17:10411733G>A ENST00000226207.5 - 16 1938 c.1844C>T c.(1843-1845)tCt>tTt p.S615F CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 615 Myosin head-like. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 CTTCATTGCAGACTTCTGGTA 0.458000 26 139 0 0 1 0 0 PRDM9 56979 broad.mit.edu 37 5 23526454 23526454 + Silent SNP A A G TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chr5:23526454A>G ENST00000296682.3 + 11 1439 c.1257A>G c.(1255-1257)ccA>ccG p.P419P NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 419 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 TCCCAGGACCATCTGCAAGAA 0.478000 HNSCC(3;0.000094) 28 51 0 0 1 0 0 NFKBIA 4792 broad.mit.edu 37 14 35873813 35873813 + Missense_Mutation SNP A A C TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chr14:35873813A>C ENST00000216797.5 - 1 139 c.38T>G c.(37-39)aTg>aGg p.M13R NFKBIA_ENST00000557140.1_Missense_Mutation_p.M13R|NFKBIA_ENST00000557100.1_5'UTR NM_020529.2 NP_065390.1 P25963 IKBA_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha 13 anti-apoptosis|apoptosis|cellular response to cold|cytoplasmic sequestering of NF-kappaB|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of DNA binding|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|I-kappaB/NF-kappaB complex|nucleus|plasma membrane identical protein binding|NF-kappaB binding|nuclear localization sequence binding|ubiquitin protein ligase binding breast(3)|endometrium(1)|large_intestine(2)|liver(1) 7 Breast(36;0.0484)|Hepatocellular(127;0.158) Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891) GBM - Glioblastoma multiforme(112;0.0222) GGGGCCCTCCATGGCCCACTC 0.716000 6 5 0 0 1 0 0 NFE2L2 4780 broad.mit.edu 37 2 178097223 178097223 + Nonsense_Mutation SNP G G C TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chr2:178097223G>C ENST00000397062.3 - 4 1045 c.491C>G c.(490-492)tCa>tGa p.S164* NFE2L2_ENST00000464747.1_Nonsense_Mutation_p.S148*|NFE2L2_ENST00000446151.2_Nonsense_Mutation_p.S141*|NFE2L2_ENST00000423513.1_3'UTR|NFE2L2_ENST00000397063.4_Nonsense_Mutation_p.S148* NM_006164.4 NP_006155.2 Q16236 NF2L2_HUMAN nuclear factor, erythroid 2-like 2 164 transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 158 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) AGTTTCAGGTGACTGAGCCTG 0.448000 Mis """NSCLC, HNSCC""" HNSCC(56;0.16) 31 15 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126369874 126369874 + Missense_Mutation SNP G G C TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chr4:126369874G>C ENST00000394329.3 + 9 7716 c.7703G>C c.(7702-7704)aGa>aCa p.R2568T FAT4_ENST00000335110.5_Missense_Mutation_p.R866T NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 2568 Cadherin 25. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 CCTAAAGTGAGAGCCAAAGAA 0.413000 19 42 0 0 1 0 0 MATR3 9782 broad.mit.edu 37 5 138657690 138657690 + Missense_Mutation SNP C C G TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chr5:138657690C>G ENST00000394800.2 + 14 2255 c.1706C>G c.(1705-1707)tCt>tGt p.S569C MATR3_ENST00000510056.1_Missense_Mutation_p.S569C|MATR3_ENST00000509990.1_Missense_Mutation_p.S569C|MATR3_ENST00000502929.1_Missense_Mutation_p.S569C|MATR3_ENST00000503811.1_Missense_Mutation_p.S281C|MATR3_ENST00000502499.1_Missense_Mutation_p.S231C|MATR3_ENST00000394805.3_Missense_Mutation_p.S569C|MATR3_ENST00000361059.2_Missense_Mutation_p.S569C|MATR3_ENST00000504203.1_Missense_Mutation_p.S231C P43243 MATR3_HUMAN matrin 3 569 RRM 2. nuclear inner membrane|nuclear matrix nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 29 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) GTTGACCTGTCTGAGAAATAT 0.348000 33 55 0 0 1 0 0 LPHN3 23284 broad.mit.edu 37 4 62599060 62599060 + Missense_Mutation SNP A A G TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chr4:62599060A>G ENST00000512091.1 + 7 1730 c.983A>G c.(982-984)gAg>gGg p.E328G LPHN3_ENST00000506746.1_Missense_Mutation_p.E396G|LPHN3_ENST00000507625.1_Missense_Mutation_p.E396G|LPHN3_ENST00000504896.1_Missense_Mutation_p.E328G|LPHN3_ENST00000514591.1_Missense_Mutation_p.E328G|LPHN3_ENST00000508693.1_Missense_Mutation_p.E396G|LPHN3_ENST00000506720.1_Missense_Mutation_p.E396G|LPHN3_ENST00000514157.1_Missense_Mutation_p.E328G|LPHN3_ENST00000545650.1_Missense_Mutation_p.E328G|LPHN3_ENST00000506700.1_Missense_Mutation_p.E328G|LPHN3_ENST00000509896.1_Missense_Mutation_p.E396G|LPHN3_ENST00000508946.1_Missense_Mutation_p.E328G|LPHN3_ENST00000507164.1_Missense_Mutation_p.E396G|LPHN3_ENST00000511324.1_Missense_Mutation_p.E396G|LPHN3_ENST00000514996.1_Missense_Mutation_p.E328G Q9HAR2 LPHN3_HUMAN latrophilin 3 328 Olfactomedin-like. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 TCTGTATATGAGGATGATGAC 0.388000 4 34 0 0 1 0 0 PRB1 5542 broad.mit.edu 37 12 11507489 11507489 + Splice_Site SNP C C G TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chr12:11507489C>G ENST00000500254.2 - 2 102 c.e2-1 PRB1_ENST00000546254.1_Intron|PRB1_ENST00000545626.1_Splice_Site NM_005039.3|NM_199353.2 NP_005030.2|NP_955385.1 P04280 PRP1_HUMAN proline-rich protein BstNI subfamily 1 extracellular region p.?(1) NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 20 OV - Ovarian serous cystadenocarcinoma(49;0.185) TGGCTGACATCTAGAAGAGAA 0.438000 67 196 0 0 1 0 0 FCRL1 115350 broad.mit.edu 37 1 157768008 157768008 + Missense_Mutation SNP C C G TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chr1:157768008C>G ENST00000358292.3 - 7 991 c.940G>C c.(940-942)Gag>Cag p.E314Q FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000368176.3_Missense_Mutation_p.E353Q|FCRL1_ENST00000491942.1_Missense_Mutation_p.E353Q NM_001159397.1 NP_001152869.1 Q96LA6 FCRL1_HUMAN Fc receptor-like 1 353 integral to membrane|plasma membrane receptor activity breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6) 42 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) TAGGTGAACTCTTGGGGTAGA 0.493000 8 29 0 0 1 0 0 FLT4 2324 broad.mit.edu 37 5 180038441 180038441 + Missense_Mutation SNP C C G TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chr5:180038441C>G ENST00000261937.6 - 27 3654 c.3576G>C c.(3574-3576)caG>caC p.Q1192H FLT4_ENST00000502649.1_Missense_Mutation_p.Q1192H|FLT4_ENST00000393347.3_Missense_Mutation_p.Q1192H NM_182925.4 NP_891555.2 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 1192 positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) CTTCTGAGCTCTGAGAGCTGC 0.672000 40 18 0 0 1 0 0 DIP2C 22982 broad.mit.edu 37 10 735479 735479 + Frame_Shift_Del DEL C C - TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chr10:735479delC ENST00000280886.6 - 1 127 c.40delG c.(40-42)agfs p.E14fs NM_014974.2 NP_055789.1 Q9Y2E4 DIP2C_HUMAN DIP2 disco-interacting protein 2 homolog C (Drosophila) 14 nucleus catalytic activity|transcription factor binding breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.136) Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106) GCCCGCACCTCCAGGGGCAGC 0.791 2 4 --- --- --- --- OR6C75 390323 broad.mit.edu 37 12 55759192 55759192 + Frame_Shift_Del DEL T T - rs75456529 TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f32a80fb-7af3-4e89-81ee-87a6aa181d97 01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573 g.chr12:55759192delT ENST00000343399.3 + 1 298 c.298delT c.(298-300)ttfs p.F102fs NM_001005497.1 NP_001005497.1 A6NL08 O6C75_HUMAN olfactory receptor, family 6, subfamily C, member 75 102 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2) 25 GGCTCAGCTATTTTTTTTCAT 0.438 8 236 --- --- --- ---