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 BTN2A3P 0 broad.mit.edu 37 6 26422353 26422353 + RNA SNP C C T rs141013110 TCGA-DU-A5TW-01A-11D-A289-08 TCGA-DU-A5TW-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9e20be0-18f4-4677-9605-7f5a9e048aae f42bbddc-fce4-44a1-9cb5-a4d5d2f84693 g.chr6:26422353C>T ENST00000466808.2 + 0 7 p.P3S(2) GCTCATGGAACCAGCTGCTGC 0.622000 4 134 0 0 1 0 0 DDX31 64794 broad.mit.edu 37 9 135535105 135535105 + Missense_Mutation SNP G G A TCGA-DU-A5TW-01A-11D-A289-08 TCGA-DU-A5TW-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9e20be0-18f4-4677-9605-7f5a9e048aae f42bbddc-fce4-44a1-9cb5-a4d5d2f84693 g.chr9:135535105G>A ENST00000372159.3 - 5 981 c.830C>T c.(829-831)aCg>aTg p.T277M DDX31_ENST00000480876.1_5'UTR|DDX31_ENST00000372153.1_Missense_Mutation_p.T277M|DDX31_ENST00000310532.2_Missense_Mutation_p.T277M|DDX31_ENST00000438527.3_Missense_Mutation_p.T148M NM_022779.7 NP_073616.6 Q9H8H2 DDX31_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 31 277 Helicase ATP-binding. nucleolus ATP binding|ATP-dependent helicase activity|RNA binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05) ACCTGAGCCCGTCTGGGATCT 0.498000 5 17 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152283914 152283914 + Silent SNP G G T TCGA-DU-A5TW-01A-11D-A289-08 TCGA-DU-A5TW-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9e20be0-18f4-4677-9605-7f5a9e048aae f42bbddc-fce4-44a1-9cb5-a4d5d2f84693 g.chr1:152283914G>T ENST00000368799.1 - 3 3483 c.3448C>A c.(3448-3450)Cga>Aga p.R1150R FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1150 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GAGCTGTCTCGTGCCTGCTCG 0.597000 Ichthyosis 12 414 3.07112e-06 3.34411e-06 1 1 0 RYR3 6263 broad.mit.edu 37 15 33945011 33945011 + Missense_Mutation SNP G G A TCGA-DU-A5TW-01A-11D-A289-08 TCGA-DU-A5TW-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9e20be0-18f4-4677-9605-7f5a9e048aae f42bbddc-fce4-44a1-9cb5-a4d5d2f84693 g.chr15:33945011G>A ENST00000389232.4 + 32 4305 c.4235G>A c.(4234-4236)gGc>gAc p.G1412D RYR3_ENST00000415757.3_Missense_Mutation_p.G1412D NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 1412 4 X approximate repeats.|B30.2/SPRY 3. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) CTGGAGATCGGCTGTCTCGTG 0.562000 4 89 0 0 1 0 0 DGAT1 8694 broad.mit.edu 37 8 145541795 145541795 + Missense_Mutation SNP C C T TCGA-DU-A5TW-01A-11D-A289-08 TCGA-DU-A5TW-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9e20be0-18f4-4677-9605-7f5a9e048aae f42bbddc-fce4-44a1-9cb5-a4d5d2f84693 g.chr8:145541795C>T ENST00000531896.1 - 7 842 c.805G>A c.(805-807)Gca>Aca p.A269T DGAT1_ENST00000332324.4_Silent_p.P238P O75907 DGAT1_HUMAN diacylglycerol O-acyltransferase 1 0 triglyceride biosynthetic process|very-low-density lipoprotein particle assembly endoplasmic reticulum membrane|integral to membrane diacylglycerol O-acyltransferase activity breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 9 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055) TCACGGTGTGCGGGGCAGCAG 0.687000 4 166 0 0 1 0 0 ATG2A 23130 broad.mit.edu 37 11 64684532 64684532 + Missense_Mutation SNP C C T TCGA-DU-A5TW-01A-11D-A289-08 TCGA-DU-A5TW-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9e20be0-18f4-4677-9605-7f5a9e048aae f42bbddc-fce4-44a1-9cb5-a4d5d2f84693 g.chr11:64684532C>T ENST00000421419.2 - 1 190 c.76G>A c.(76-78)Ggt>Agt p.G26S ATG2A_ENST00000377264.3_Missense_Mutation_p.G26S Q2TAZ0 ATG2A_HUMAN autophagy related 2A 26 protein binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 55 AAGAAGTGACCTAAGTAGTGG 0.597000 10 73 0 0 1 0 0 HRH4 59340 broad.mit.edu 37 18 22056982 22056982 + Missense_Mutation SNP G G A TCGA-DU-A5TW-01A-11D-A289-08 TCGA-DU-A5TW-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9e20be0-18f4-4677-9605-7f5a9e048aae f42bbddc-fce4-44a1-9cb5-a4d5d2f84693 g.chr18:22056982G>A ENST00000256906.4 + 3 729 c.629G>A c.(628-630)tGc>tAc p.C210Y HRH4_ENST00000426880.2_Missense_Mutation_p.C122Y NM_001160166.1|NM_021624.3 NP_001153638.1|NP_067637.2 Q9H3N8 HRH4_HUMAN histamine receptor H4 210 integral to membrane|plasma membrane histamine receptor activity endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991) Clozapine(DB00363) CTCAGTAGGTGCCAAAGCCAT 0.438000 6 142 0 0 1 0 0 RP11-407N17.3 0 broad.mit.edu 37 14 39819320 39819320 + Missense_Mutation SNP C C G TCGA-DU-A5TW-01A-11D-A289-08 TCGA-DU-A5TW-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9e20be0-18f4-4677-9605-7f5a9e048aae f42bbddc-fce4-44a1-9cb5-a4d5d2f84693 g.chr14:39819320C>G ENST00000553728.1 + 28 4085 c.3872C>G c.(3871-3873)cCg>cGg p.P1291R CTAGE5_ENST00000553352.1_Missense_Mutation_p.P727R|CTAGE5_ENST00000396165.4_Missense_Mutation_p.P727R|CTAGE5_ENST00000396158.2_Missense_Mutation_p.P761R|CTAGE5_ENST00000557038.1_Missense_Mutation_p.P676R|CTAGE5_ENST00000556148.1_Missense_Mutation_p.P681R|CTAGE5_ENST00000341502.5_Intron|CTAGE5_ENST00000280083.3_Missense_Mutation_p.P756R|CTAGE5_ENST00000341749.3_Missense_Mutation_p.P744R|CTAGE5_ENST00000553383.1_3'UTR|CTAGE5_ENST00000348007.3_Missense_Mutation_p.P713R|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.P727R GTCTATCCACCGAGGGGTTTT 0.418000 4 95 0 0 1 0 0 NCK1 4690 broad.mit.edu 37 3 136646967 136646967 + Nonsense_Mutation SNP C C T TCGA-DU-A5TW-01A-11D-A289-08 TCGA-DU-A5TW-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9e20be0-18f4-4677-9605-7f5a9e048aae f42bbddc-fce4-44a1-9cb5-a4d5d2f84693 g.chr3:136646967C>T ENST00000481752.1 + 2 288 c.124C>T c.(124-126)Cga>Tga p.R42* NCK1_ENST00000288986.2_Nonsense_Mutation_p.R42* P16333 NCK1_HUMAN NCK adaptor protein 1 42 SH3 1. axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway cytosol|endoplasmic reticulum|nucleus cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 13 GTGGCGAGTTCGAAATTCCAT 0.393000 15 99 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13867993 13867993 + Missense_Mutation SNP C C T TCGA-DU-A5TW-01A-11D-A289-08 TCGA-DU-A5TW-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9e20be0-18f4-4677-9605-7f5a9e048aae f42bbddc-fce4-44a1-9cb5-a4d5d2f84693 g.chr5:13867993C>T ENST00000265104.4 - 25 4047 c.3943G>A c.(3943-3945)Gaa>Aaa p.E1315K CTB-51A17.1_ENST00000503244.1_RNA NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1315 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TTCTGGACTTCGCCAGCACGT 0.453000 Kartagener syndrome 20 79 0 0 1 0 0 LMOD2 442721 broad.mit.edu 37 7 123302314 123302314 + Missense_Mutation SNP C C A TCGA-DU-A5TW-01A-11D-A289-08 TCGA-DU-A5TW-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9e20be0-18f4-4677-9605-7f5a9e048aae f42bbddc-fce4-44a1-9cb5-a4d5d2f84693 g.chr7:123302314C>A ENST00000458573.2 + 2 831 c.674C>A c.(673-675)aCa>aAa p.T225K LMOD2_ENST00000456238.2_Intron NM_207163.1 NP_997046.1 Q6P5Q4 LMOD2_HUMAN leiomodin 2 (cardiac) 225 cytoskeleton actin binding|tropomyosin binding GAGAACATCACAACACAGACC 0.488000 9 70 0.000673444 0.000717364 1 1 0 VEGFB 7423 broad.mit.edu 37 11 64005040 64005040 + Missense_Mutation SNP A A C TCGA-DU-A5TW-01A-11D-A289-08 TCGA-DU-A5TW-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9e20be0-18f4-4677-9605-7f5a9e048aae f42bbddc-fce4-44a1-9cb5-a4d5d2f84693 g.chr11:64005040A>C ENST00000309422.2 + 6 855 c.559A>C c.(559-561)Acc>Ccc p.T187P VEGFB_ENST00000426086.2_Missense_Mutation_p.D153A NM_001243733.1|NM_003377.4 NP_001230662.1|NP_003368.1 P49765 VEGFB_HUMAN vascular endothelial growth factor B 187 anti-apoptosis|induction of positive chemotaxis|negative regulation of gene expression|negative regulation of neuron apoptosis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular wound healing|vascular endothelial growth factor receptor signaling pathway extracellular region|extracellular space|membrane|platelet alpha granule lumen chemoattractant activity|growth factor activity|heparin binding|vascular endothelial growth factor receptor 1 binding endometrium(2)|large_intestine(2)|prostate(1)|stomach(1) 6 CAGCGCCCTGACCCCCGGACC 0.706000 9 20 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144940353 144940353 + Missense_Mutation SNP C C T TCGA-DU-A5TW-01A-11D-A289-08 TCGA-DU-A5TW-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9e20be0-18f4-4677-9605-7f5a9e048aae f42bbddc-fce4-44a1-9cb5-a4d5d2f84693 g.chr8:144940353C>T ENST00000525985.1 - 2 7140 c.7069G>A c.(7069-7071)Gtg>Atg p.V2357M P58107 EPIPL_HUMAN epiplakin 1 2357 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) TCCACGGGCACGCGGTGGCTG 0.692000 14 923 0 0 1 0 0 TEAD1 7003 broad.mit.edu 37 11 12886385 12886385 + Splice_Site SNP G G A TCGA-DU-A5TW-01A-11D-A289-08 TCGA-DU-A5TW-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9e20be0-18f4-4677-9605-7f5a9e048aae f42bbddc-fce4-44a1-9cb5-a4d5d2f84693 g.chr11:12886385G>A ENST00000361905.4 + 5 888 c.222_splice c.e5-1 p.V75_splice TEAD1_ENST00000527636.1_Splice_Site_p.V90_splice|TEAD1_ENST00000361985.2_Splice_Site_p.V90_splice|TEAD1_ENST00000334310.6_Splice_Site_p.V75_splice|TEAD1_ENST00000527575.1_Splice_Site_p.V90_splice NM_021961.5 NP_068780.2 P28347 TEAD1_HUMAN TEA domain family member 1 (SV40 transcriptional enhancer factor) 90 hippo signaling cascade DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9) 17 Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236) TACCCTGCAGGTGTCTAGTCA 0.478000 8 102 0 0 1 0 0 GTF2IRD2P1 0 broad.mit.edu 37 7 72663998 72663998 + RNA SNP T T G TCGA-DU-A5TW-01A-11D-A289-08 TCGA-DU-A5TW-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9e20be0-18f4-4677-9605-7f5a9e048aae f42bbddc-fce4-44a1-9cb5-a4d5d2f84693 g.chr7:72663998T>G ENST00000425256.1 - 0 902 NR_002164.1 ATAGCCGGGGTCCTTGAATAC 0.488000 4 118 0 0 1 0 0 CPT1C 126129 broad.mit.edu 37 19 50203968 50203968 + Silent SNP G G A rs141969670 TCGA-DU-A5TW-01A-11D-A289-08 TCGA-DU-A5TW-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9e20be0-18f4-4677-9605-7f5a9e048aae f42bbddc-fce4-44a1-9cb5-a4d5d2f84693 g.chr19:50203968G>A ENST00000392518.4 + 5 681 c.309G>A c.(307-309)ggG>ggA p.G103G CPT1C_ENST00000598293.1_Silent_p.G103G|CPT1C_ENST00000323446.5_Silent_p.G103G|CPT1C_ENST00000405931.2_Silent_p.G103G|CPT1C_ENST00000354199.5_Silent_p.G103G NM_001199752.1 NP_001186681.1 Q8TCG5 CPT1C_HUMAN carnitine palmitoyltransferase 1C 103 fatty acid metabolic process integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786) GGCTCCGGGGGGTCCTGGCAG 0.662000 18 178 0 0 1 0 0 IL2RA 3559 broad.mit.edu 37 10 6061422 6061422 + Silent SNP C C T TCGA-DU-A5TW-01A-11D-A289-08 TCGA-DU-A5TW-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9e20be0-18f4-4677-9605-7f5a9e048aae f42bbddc-fce4-44a1-9cb5-a4d5d2f84693 g.chr10:6061422C>T ENST00000379959.3 - 6 869 c.696G>A c.(694-696)acG>acA p.T232T IL2RA_ENST00000256876.6_Silent_p.T223T|IL2RA_ENST00000379954.1_Silent_p.T160T NM_000417.2 NP_000408.1 P01589 IL2RA_HUMAN interleukin 2 receptor, alpha 232 cell proliferation integral to membrane interleukin-2 receptor activity endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 17 Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004) TAAATATGGACGTCTCCATGG 0.468000 31 79 0 0 1 0 0 NLN 57486 broad.mit.edu 37 5 65118664 65118664 + Missense_Mutation SNP T T C rs149642804 by1000genomes TCGA-DU-A5TW-01A-11D-A289-08 TCGA-DU-A5TW-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9e20be0-18f4-4677-9605-7f5a9e048aae f42bbddc-fce4-44a1-9cb5-a4d5d2f84693 g.chr5:65118664T>C ENST00000380985.5 + 13 2214 c.2036T>C c.(2035-2037)aTg>aCg p.M679T NLN_ENST00000502464.1_Missense_Mutation_p.M575T|NLN_ENST00000515595.1_3'UTR NM_020726.4 NP_065777.1 Q9BYT8 NEUL_HUMAN neurolysin (metallopeptidase M3 family) 679 proteolysis mitochondrial intermembrane space metal ion binding|metalloendopeptidase activity central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 26 Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186) UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616) CTGGACGGCATGGACATGCTC 0.433000 70 60 0 0 1 0 0 SUPV3L1 6832 broad.mit.edu 37 10 70940084 70940084 + Missense_Mutation SNP C C T TCGA-DU-A5TW-01A-11D-A289-08 TCGA-DU-A5TW-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9e20be0-18f4-4677-9605-7f5a9e048aae f42bbddc-fce4-44a1-9cb5-a4d5d2f84693 g.chr10:70940084C>T ENST00000359655.4 + 1 97 c.37C>T c.(37-39)Ccg>Tcg p.P13S SUPV3L1_ENST00000483572.1_3'UTR NM_003171.3 NP_003162.2 Q8IYB8 SUV3_HUMAN suppressor of var1, 3-like 1 (S. cerevisiae) 13 DNA duplex unwinding mitochondrial nucleoid|nucleus ATP binding|DNA binding|DNA helicase activity|RNA binding NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 GGCTCGGCTCCCGGCGGGGCG 0.687000 12 73 0 0 1 0 0 CHST1 8534 broad.mit.edu 37 11 45672219 45672219 + Silent SNP G G A TCGA-DU-A5TW-01A-11D-A289-08 TCGA-DU-A5TW-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9e20be0-18f4-4677-9605-7f5a9e048aae f42bbddc-fce4-44a1-9cb5-a4d5d2f84693 g.chr11:45672219G>A ENST00000308064.2 - 4 925 c.255C>T c.(253-255)gaC>gaT p.D85D NM_003654.5 NP_003645.1 O43916 CHST1_HUMAN carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 85 galactose metabolic process|inflammatory response|keratan sulfate metabolic process Golgi membrane|integral to membrane keratan sulfotransferase activity breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781) GGTAGAAGACGTCCAGGTGCT 0.642000 22 100 0 0 1 0 0 KAT6B 23522 broad.mit.edu 37 10 76735329 76735329 + Missense_Mutation SNP A A G TCGA-DU-A5TW-01A-11D-A289-08 TCGA-DU-A5TW-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9e20be0-18f4-4677-9605-7f5a9e048aae f42bbddc-fce4-44a1-9cb5-a4d5d2f84693 g.chr10:76735329A>G ENST00000287239.4 + 8 1723 c.1234A>G c.(1234-1236)Aaa>Gaa p.K412E KAT6B_ENST00000372725.1_Intron|KAT6B_ENST00000372714.1_Intron|KAT6B_ENST00000372711.1_Missense_Mutation_p.K412E|KAT6B_ENST00000372724.1_Intron NM_001256468.1|NM_012330.3 NP_001243397.1|NP_036462.2 Q8WYB5 MYST4_HUMAN K(lysine) acetyltransferase 6B 412 Negatively regulates HAT activity. histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding TGCCACCACCAAAATCACCAC 0.473000 5 102 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100676715 100676715 + Missense_Mutation SNP C C T TCGA-DU-A5TW-01A-11D-A289-08 TCGA-DU-A5TW-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9e20be0-18f4-4677-9605-7f5a9e048aae f42bbddc-fce4-44a1-9cb5-a4d5d2f84693 g.chr7:100676715C>T ENST00000306151.4 + 3 2082 c.2018C>T c.(2017-2019)gCg>gTg p.A673V NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 673 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) TCTACAACTGCGGAAGGTACC 0.502000 75 883 0 0 1 0 0 PIK3CG 5294 broad.mit.edu 37 7 106509439 106509439 + Missense_Mutation SNP G G A TCGA-DU-A5TW-01A-11D-A289-08 TCGA-DU-A5TW-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9e20be0-18f4-4677-9605-7f5a9e048aae f42bbddc-fce4-44a1-9cb5-a4d5d2f84693 g.chr7:106509439G>A ENST00000359195.3 + 2 1743 c.1433G>A c.(1432-1434)gGa>gAa p.G478E PIK3CG_ENST00000496166.1_Missense_Mutation_p.G478E|PIK3CG_ENST00000440650.2_Missense_Mutation_p.G478E NM_002649.2 NP_002640.2 P48736 PK3CG_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma 478 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 132 CTGCGCCGTGGAGAATACGTC 0.522000 6 242 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-DU-A5TW-01A-11D-A289-08 TCGA-DU-A5TW-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9e20be0-18f4-4677-9605-7f5a9e048aae f42bbddc-fce4-44a1-9cb5-a4d5d2f84693 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 29 29 0 0 1 0 0 DDX27 55661 broad.mit.edu 37 20 47835985 47835985 + Missense_Mutation SNP C C G TCGA-DU-A5TW-01A-11D-A289-08 TCGA-DU-A5TW-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9e20be0-18f4-4677-9605-7f5a9e048aae f42bbddc-fce4-44a1-9cb5-a4d5d2f84693 g.chr20:47835985C>G ENST00000371764.4 + 1 102 c.93C>G c.(91-93)aaC>aaG p.N31K DDX27_ENST00000484427.1_3'UTR NM_017895.7 NP_060365.7 Q96GQ7 DDX27_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 31 nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) TCTGCGACAACATGCTTGCGG 0.602000 19 25 0 0 1 0 0 HSPA9 3313 broad.mit.edu 37 5 137906680 137906680 + Nonsense_Mutation SNP G G A rs35091799 TCGA-DU-A5TW-01A-11D-A289-08 TCGA-DU-A5TW-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9e20be0-18f4-4677-9605-7f5a9e048aae f42bbddc-fce4-44a1-9cb5-a4d5d2f84693 g.chr5:137906680G>A ENST00000297185.3 - 4 504 c.379C>T c.(379-381)Cga>Tga p.R127* NM_004134.6 NP_004125.3 P38646 GRP75_HUMAN heat shock 70kDa protein 9 (mortalin) 127 R -> G (in dbSNP:rs35091799). anti-apoptosis|protein folding cell surface|mitochondrial nucleoid ATP binding|unfolded protein binding breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1) 28 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) TCATCATATCGCCGGCCAATG 0.463000 14 127 0 0 1 0 0 RENBP 5973 broad.mit.edu 37 X 153208402 153208402 + Missense_Mutation SNP G G T rs149476338 TCGA-DU-A5TW-01A-11D-A289-08 TCGA-DU-A5TW-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9e20be0-18f4-4677-9605-7f5a9e048aae f42bbddc-fce4-44a1-9cb5-a4d5d2f84693 g.chrX:153208402G>T ENST00000393700.3 - 6 672 c.592C>A c.(592-594)Ctg>Atg p.L198M RENBP_ENST00000462086.1_5'UTR|RENBP_ENST00000369997.3_Missense_Mutation_p.L184M|RENBP_ENST00000412763.1_Missense_Mutation_p.L198M NM_002910.5 NP_002901.2 P51606 RENBP_HUMAN renin binding protein 198 Leucine-zipper. mannose metabolic process|regulation of blood pressure endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 20 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) N-Acetyl-D-glucosamine(DB00141) TGCTCCACCAGGTTCAGTAGC 0.701000 13 166 0.00244969 0.00255394 1 1 0 TENM3 55714 broad.mit.edu 37 4 183651451 183651451 + Missense_Mutation SNP C C T TCGA-DU-A5TW-01A-11D-A289-08 TCGA-DU-A5TW-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9e20be0-18f4-4677-9605-7f5a9e048aae f42bbddc-fce4-44a1-9cb5-a4d5d2f84693 g.chr4:183651451C>T ENST00000511685.1 + 15 2807 c.2684C>T c.(2683-2685)aCt>aTt p.T895I TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Missense_Mutation_p.T895I teneurin transmembrane protein 3 TATGGATATACTATTACCCGC 0.418000 23 48 0 0 1 0 0 DMD 1756 broad.mit.edu 37 X 32867885 32867885 + Missense_Mutation SNP C C T TCGA-DU-A5TW-01A-11D-A289-08 TCGA-DU-A5TW-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9e20be0-18f4-4677-9605-7f5a9e048aae f42bbddc-fce4-44a1-9cb5-a4d5d2f84693 g.chrX:32867885C>T ENST00000357033.4 - 3 352 c.146G>A c.(145-147)cGc>cAc p.R49H DMD_ENST00000378677.2_Missense_Mutation_p.R45H|DMD_ENST00000288447.4_Missense_Mutation_p.R41H NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 49 Actin-binding.|CH 1. Missing (in BMD). muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) GTCTAGGAGGCGCCTCCCATC 0.393000 8 64 0 0 1 0 0 PRR19 284338 broad.mit.edu 37 19 42814703 42814703 + Silent SNP G G A TCGA-DU-A5TW-01A-11D-A289-08 TCGA-DU-A5TW-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9e20be0-18f4-4677-9605-7f5a9e048aae f42bbddc-fce4-44a1-9cb5-a4d5d2f84693 g.chr19:42814703G>A ENST00000499536.2 + 2 1693 c.882G>A c.(880-882)acG>acA p.T294T PRR19_ENST00000341747.3_Silent_p.T294T|PRR19_ENST00000598490.1_3'UTR A6NJB7 PRR19_HUMAN proline rich 19 294 Pro-rich. NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 10 Prostate(69;0.00682) TGGTAGCCACGCCACCCCCTC 0.627000 11 165 0 0 1 0 0 JAKMIP1 152789 broad.mit.edu 37 4 6107435 6107435 + Missense_Mutation SNP G G A TCGA-DU-A5TW-01A-11D-A289-08 TCGA-DU-A5TW-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9e20be0-18f4-4677-9605-7f5a9e048aae f42bbddc-fce4-44a1-9cb5-a4d5d2f84693 g.chr4:6107435G>A ENST00000409021.3 - 3 838 c.389C>T c.(388-390)aCg>aTg p.T130M JAKMIP1_ENST00000410077.2_Intron|JAKMIP1_ENST00000282924.5_Missense_Mutation_p.T130M|JAKMIP1_ENST00000409371.3_Intron|JAKMIP1_ENST00000457227.2_Intron|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.T130M NM_001099433.1 NP_001092903.1 Q96N16 JKIP1_HUMAN janus kinase and microtubule interacting protein 1 130 Mediates association with microtubules. protein transport cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex GABA receptor binding|RNA binding NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 CAGCAGCGCCGTCTTGACCTT 0.716000 3 23 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124339199 124339199 + Missense_Mutation SNP A A G TCGA-DU-A5TW-01A-11D-A289-08 TCGA-DU-A5TW-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9e20be0-18f4-4677-9605-7f5a9e048aae f42bbddc-fce4-44a1-9cb5-a4d5d2f84693 g.chr10:124339199A>G ENST00000368909.3 + 10 891 c.785A>G c.(784-786)tAc>tGc p.Y262C DMBT1_ENST00000368956.2_Missense_Mutation_p.Y262C|DMBT1_ENST00000368955.3_Missense_Mutation_p.Y262C|DMBT1_ENST00000344338.3_Missense_Mutation_p.Y262C|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000330163.4_Missense_Mutation_p.Y262C|DMBT1_ENST00000338354.3_Missense_Mutation_p.Y262C NM_007329.2 NP_015568.2 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 262 SRCR 2. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) TGTGATGACTACTGGGACACC 0.617000 7 427 0 0 1 0 0 BRS3 680 broad.mit.edu 37 X 135572458 135572458 + Nonsense_Mutation SNP G G T TCGA-DU-A5TW-01A-11D-A289-08 TCGA-DU-A5TW-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9e20be0-18f4-4677-9605-7f5a9e048aae f42bbddc-fce4-44a1-9cb5-a4d5d2f84693 g.chrX:135572458G>T ENST00000370648.3 + 2 829 c.601G>T c.(601-603)Gaa>Taa p.E201* NM_001727.1 NP_001718.1 P32247 BRS3_HUMAN bombesin-like receptor 3 201 adult feeding behavior|glucose metabolic process|regulation of blood pressure integral to membrane|plasma membrane bombesin receptor activity endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1) 23 Acute lymphoblastic leukemia(192;0.000127) TATGACATTTGAATCATGTAC 0.373000 5 51 5.9392e-07 6.53979e-07 1 1 0 KRTAP4-6 81871 broad.mit.edu 37 17 39296282 39296282 + Missense_Mutation SNP G G T TCGA-DU-A5TW-01A-11D-A289-08 TCGA-DU-A5TW-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9e20be0-18f4-4677-9605-7f5a9e048aae f42bbddc-fce4-44a1-9cb5-a4d5d2f84693 g.chr17:39296282G>T ENST00000345847.4 - 1 457 c.458C>A c.(457-459)tCt>tAt p.S153Y NM_030976.1 NP_112238.1 Q9BYQ5 KRA46_HUMAN keratin associated protein 4-6 149 29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP]. keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1) 9 ttcacagcaagaggggcggca 0.662000 4 51 0.184627 0.186531 1 1 0 NLRP2 55655 broad.mit.edu 37 19 55501464 55501464 + Missense_Mutation SNP C C T TCGA-DU-A5TW-01A-11D-A289-08 TCGA-DU-A5TW-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9e20be0-18f4-4677-9605-7f5a9e048aae f42bbddc-fce4-44a1-9cb5-a4d5d2f84693 g.chr19:55501464C>T ENST00000543010.1 + 9 2584 c.2441C>T c.(2440-2442)aCg>aTg p.T814M NLRP2_ENST00000263437.6_Missense_Mutation_p.T811M|NLRP2_ENST00000537859.1_Missense_Mutation_p.T792M|NLRP2_ENST00000391721.4_Missense_Mutation_p.T790M|NLRP2_ENST00000538819.1_Missense_Mutation_p.T790M|NLRP2_ENST00000448584.2_Missense_Mutation_p.T814M|NLRP2_ENST00000427260.2_Missense_Mutation_p.T791M|NLRP2_ENST00000339757.7_Missense_Mutation_p.T792M NM_001174081.1 NP_001167552.1 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 814 apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 11 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) CAGTCCCTGACGTGCGTAAAC 0.517000 46 52 0 0 1 0 0 RASSF5 83593 broad.mit.edu 37 1 206711607 206711607 + Silent SNP C C T rs138095666 TCGA-DU-A5TW-01A-11D-A289-08 TCGA-DU-A5TW-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9e20be0-18f4-4677-9605-7f5a9e048aae f42bbddc-fce4-44a1-9cb5-a4d5d2f84693 g.chr1:206711607C>T ENST00000338603.2 + 2 621 c.564C>T c.(562-564)acC>acT p.T188T RASSF5_ENST00000355294.4_Silent_p.T188T|RASSF5_ENST00000367117.3_Silent_p.T188T NM_182663.2 NP_872604.1 Q8WWW0 RASF5_HUMAN Ras association (RalGDS/AF-6) domain family member 5 188 apoptosis|intracellular signal transduction cytoplasm|microtubule metal ion binding|protein binding endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1) 8 Breast(84;0.183) BRCA - Breast invasive adenocarcinoma(75;0.166) GCACCCTCACCGTGACCTTCA 0.592000 68 97 0 0 1 0 0 CCDC8 83987 broad.mit.edu 37 19 46915402 46915402 + Silent SNP G G A TCGA-DU-A5TW-01A-11D-A289-08 TCGA-DU-A5TW-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9e20be0-18f4-4677-9605-7f5a9e048aae f42bbddc-fce4-44a1-9cb5-a4d5d2f84693 g.chr19:46915402G>A ENST00000307522.3 - 1 1439 c.666C>T c.(664-666)ggC>ggT p.G222G NM_032040.4 NP_114429.2 Q9H0W5 CCDC8_HUMAN coiled-coil domain containing 8 222 plasma membrane breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421) GCCGGGCCTCGCCCACCCCGG 0.701000 8 32 0 0 1 0 0 CKAP2L 150468 broad.mit.edu 37 2 113513832 113513832 + Silent SNP T T G TCGA-DU-A5TW-01A-11D-A289-08 TCGA-DU-A5TW-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9e20be0-18f4-4677-9605-7f5a9e048aae f42bbddc-fce4-44a1-9cb5-a4d5d2f84693 g.chr2:113513832T>G ENST00000541405.1 - 4 1144 c.621A>C c.(619-621)tcA>tcC p.S207S CKAP2L_ENST00000302450.6_Silent_p.S372S Q8IYA6 CKP2L_HUMAN cytoskeleton associated protein 2-like 372 centrosome breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 28 TTATGGCTTTTGACTTTTGCA 0.418000 5 115 0 0 1 0 0 LILRB5 0 broad.mit.edu 37 19 54754730 54754730 + Missense_Mutation SNP C C T TCGA-DU-A5TW-01A-11D-A289-08 TCGA-DU-A5TW-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9e20be0-18f4-4677-9605-7f5a9e048aae f42bbddc-fce4-44a1-9cb5-a4d5d2f84693 g.chr19:54754730C>T ENST00000316219.5 - 13 1800 c.1693G>A c.(1693-1695)Gag>Aag p.E565K LILRB5_ENST00000345866.6_Missense_Mutation_p.E466K|LILRB5_ENST00000450632.1_3'UTR|LILRB5_ENST00000449561.2_Missense_Mutation_p.E566K NM_001081442.1|NM_006840.3 NP_001074911.1|NP_006831.1 O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 565 cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TCAGTTGCCTCCCGTCTGAGG 0.627000 4 115 0 0 1 0 0 MYH8 4626 broad.mit.edu 37 17 10304026 10304026 + Missense_Mutation SNP C C T TCGA-DU-A5TW-01A-11D-A289-08 TCGA-DU-A5TW-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9e20be0-18f4-4677-9605-7f5a9e048aae f42bbddc-fce4-44a1-9cb5-a4d5d2f84693 g.chr17:10304026C>T ENST00000403437.2 - 27 3510 c.3416G>A c.(3415-3417)cGc>cAc p.R1139H CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 1139 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 GAGGTCAGAGCGCTGCTTCTC 0.572000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 24 126 0 0 1 0 0 TERT 0 broad.mit.edu 37 5 1282653 1282653 + Missense_Mutation SNP C C T TCGA-DU-A5TW-01A-11D-A289-08 TCGA-DU-A5TW-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9e20be0-18f4-4677-9605-7f5a9e048aae f42bbddc-fce4-44a1-9cb5-a4d5d2f84693 g.chr5:1282653C>T ENST00000310581.5 - 3 1717 c.1660G>A c.(1660-1662)Gtc>Atc p.V554I TERT_ENST00000296820.5_Missense_Mutation_p.V554I|TERT_ENST00000508104.2_Missense_Mutation_p.V554I|TERT_ENST00000334602.6_Missense_Mutation_p.V554I NM_001193376.1|NM_198253.2 NP_001180305.1|NP_937983.2 O14746 TERT_HUMAN telomerase reverse transcriptase 554 anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase cytoplasm|nucleolus|PML body|telomerase holoenzyme complex protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 41 all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10) Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) AGCAGCTCGACGACGTACACA 0.527000 TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis 4 102 0 0 1 0 0 ZNF222 0 broad.mit.edu 37 19 44536349 44536349 + Silent SNP G G A TCGA-DU-A5TW-01A-11D-A289-08 TCGA-DU-A5TW-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9e20be0-18f4-4677-9605-7f5a9e048aae f42bbddc-fce4-44a1-9cb5-a4d5d2f84693 g.chr19:44536349G>A ENST00000187879.8 + 4 684 c.522G>A c.(520-522)aaG>aaA p.K174K ZNF223_ENST00000591793.1_Intron|ZNF222_ENST00000391960.3_Silent_p.K214K NM_013360.2 NP_037492.2 Q9UK12 ZN222_HUMAN zinc finger protein 222 174 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 20 Prostate(69;0.0435) AATGCTATAAGTGTGATGTGT 0.443000 5 184 0 0 1 0 0 NEU4 129807 broad.mit.edu 37 2 242755717 242755717 + Silent SNP C C T TCGA-DU-A5TW-01A-11D-A289-08 TCGA-DU-A5TW-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9e20be0-18f4-4677-9605-7f5a9e048aae f42bbddc-fce4-44a1-9cb5-a4d5d2f84693 g.chr2:242755717C>T ENST00000391969.2 + 3 747 c.36C>T c.(34-36)ctC>ctT p.L12L NEU4_ENST00000404257.1_Silent_p.L24L|NEU4_ENST00000325935.6_Silent_p.L25L|NEU4_ENST00000407683.1_Silent_p.L12L|NEU4_ENST00000405370.1_Silent_p.L12L NM_001167602.1 NP_001161074.1 Q8WWR8 NEUR4_HUMAN sialidase 4 12 lysosomal lumen|organelle inner membrane exo-alpha-sialidase activity|protein binding breast(1)|lung(10)|prostate(2)|skin(2) 15 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825) GGACAGTGCTCTTCGAGCGGG 0.697000 9 44 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124339198 124339198 + Missense_Mutation SNP T T A TCGA-DU-A5TW-01A-11D-A289-08 TCGA-DU-A5TW-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9e20be0-18f4-4677-9605-7f5a9e048aae f42bbddc-fce4-44a1-9cb5-a4d5d2f84693 g.chr10:124339198T>A ENST00000368909.3 + 10 890 c.784T>A c.(784-786)Tac>Aac p.Y262N DMBT1_ENST00000368956.2_Missense_Mutation_p.Y262N|DMBT1_ENST00000368955.3_Missense_Mutation_p.Y262N|DMBT1_ENST00000344338.3_Missense_Mutation_p.Y262N|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000330163.4_Missense_Mutation_p.Y262N|DMBT1_ENST00000338354.3_Missense_Mutation_p.Y262N NM_007329.2 NP_015568.2 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 262 SRCR 2. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) GTGTGATGACTACTGGGACAC 0.612000 7 424 0 0 1 0 0 RHPN2 85415 broad.mit.edu 37 19 33493188 33493188 + Missense_Mutation SNP T T A rs141887475 by1000genomes TCGA-DU-A5TW-01A-11D-A289-08 TCGA-DU-A5TW-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9e20be0-18f4-4677-9605-7f5a9e048aae f42bbddc-fce4-44a1-9cb5-a4d5d2f84693 g.chr19:33493188T>A ENST00000254260.3 - 9 1105 c.1070A>T c.(1069-1071)cAc>cTc p.H357L RHPN2_ENST00000400226.4_Missense_Mutation_p.H206L NM_033103.4 NP_149094.3 Q8IUC4 RHPN2_HUMAN rhophilin, Rho GTPase binding protein 2 357 BRO1. signal transduction perinuclear region of cytoplasm protein binding p.H357L(2) NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1) 44 Esophageal squamous(110;0.137) AGTGAAGTAGTGGGCCAGGGC 0.647000 5 55 0 0 1 0 0 AC024560.3 0 broad.mit.edu 37 3 197348674 197348674 + RNA SNP A A G rs144273946 by1000genomes TCGA-DU-A5TW-01A-11D-A289-08 TCGA-DU-A5TW-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9e20be0-18f4-4677-9605-7f5a9e048aae f42bbddc-fce4-44a1-9cb5-a4d5d2f84693 g.chr3:197348674A>G ENST00000418868.1 - 0 585 NR_003266.2 GGCTCTGTCCACCAAATGCAC 0.478000 5 138 0 0 1 0 0 MUC7 4589 broad.mit.edu 37 4 71347104 71347104 + Missense_Mutation SNP C C T TCGA-DU-A5TW-01A-11D-A289-08 TCGA-DU-A5TW-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9e20be0-18f4-4677-9605-7f5a9e048aae f42bbddc-fce4-44a1-9cb5-a4d5d2f84693 g.chr4:71347104C>T ENST00000413702.1 + 4 931 c.643C>T c.(643-645)Cca>Tca p.P215S MUC7_ENST00000456088.1_Missense_Mutation_p.P215S|MUC7_ENST00000304887.5_Missense_Mutation_p.P215S NM_001145006.1 NP_001138478.1 Q8TAX7 MUC7_HUMAN mucin 7, secreted 215 Thr-rich. extracellular region protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Lung(101;0.211) CACAGCTGCCCCACCCACACC 0.597000 105 71 0 0 1 0 0 AF064858.6 0 broad.mit.edu 37 21 40250530 40250530 + RNA SNP C C T TCGA-DU-A5TW-01A-11D-A289-08 TCGA-DU-A5TW-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9e20be0-18f4-4677-9605-7f5a9e048aae f42bbddc-fce4-44a1-9cb5-a4d5d2f84693 g.chr21:40250530C>T ENST00000380931.2 - 0 2507 GGCAGCCCAGCCCAGAGCACT 0.527000 26 31 0 0 1 0 0 FBN3 84467 broad.mit.edu 37 19 8201077 8201077 + Missense_Mutation SNP C C T TCGA-DU-A5TW-01A-11D-A289-08 TCGA-DU-A5TW-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9e20be0-18f4-4677-9605-7f5a9e048aae f42bbddc-fce4-44a1-9cb5-a4d5d2f84693 g.chr19:8201077C>T ENST00000600128.1 - 12 1876 c.1462G>A c.(1462-1464)Gtg>Atg p.V488M FBN3_ENST00000270509.2_Missense_Mutation_p.V488M|FBN3_ENST00000601739.1_Missense_Mutation_p.V488M Q75N90 FBN3_HUMAN fibrillin 3 488 EGF-like 4; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 GCCGTACCCACGCATGCCTGC 0.667000 10 83 0 0 1 0 0 INSC 387755 broad.mit.edu 37 11 15222447 15222447 + Silent SNP G G A TCGA-DU-A5TW-01A-11D-A289-08 TCGA-DU-A5TW-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9e20be0-18f4-4677-9605-7f5a9e048aae f42bbddc-fce4-44a1-9cb5-a4d5d2f84693 g.chr11:15222447G>A ENST00000379554.3 + 7 958 c.912G>A c.(910-912)acG>acA p.T304T INSC_ENST00000530161.1_Silent_p.T257T|INSC_ENST00000528567.1_Silent_p.T257T|INSC_ENST00000447214.2_Intron|INSC_ENST00000424273.1_Intron|INSC_ENST00000525218.1_Intron|INSC_ENST00000379556.3_Silent_p.T257T NM_001031853.3 NP_001027024.3 Q1MX18 INSC_HUMAN inscuteable homolog (Drosophila) 304 cell differentiation|nervous system development cytoplasm binding NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 CGCTCCGCACGCTGGCCTCCA 0.612000 3 32 0 0 1 0 0 RNF8 9025 broad.mit.edu 37 6 37339288 37339288 + Splice_Site SNP G G T TCGA-DU-A5TW-01A-11D-A289-08 TCGA-DU-A5TW-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9e20be0-18f4-4677-9605-7f5a9e048aae f42bbddc-fce4-44a1-9cb5-a4d5d2f84693 g.chr6:37339288G>T ENST00000373479.4 + 4 1169 c.975_splice c.e4-1 p.G326_splice RNF8_ENST00000469731.1_Splice_Site_p.G326_splice NM_003958.3|NM_183078.2 NP_003949.1|NP_898901.1 O76064 RNF8_HUMAN ring finger protein 8, E3 ubiquitin protein ligase 326 Gln-rich. cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation midbody|nucleus|ubiquitin ligase complex chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1) 13 GGCTTTGCAGGGTTTGGAGAT 0.468000 7 64 1.26484e-09 1.42477e-09 1 1 0 TTN 7273 broad.mit.edu 37 2 179517223 179517223 + Missense_Mutation SNP G G A TCGA-DU-A5TW-01A-11D-A289-08 TCGA-DU-A5TW-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9e20be0-18f4-4677-9605-7f5a9e048aae f42bbddc-fce4-44a1-9cb5-a4d5d2f84693 g.chr2:179517223G>A ENST00000589042.1 - 202 39313 c.39089C>T c.(39088-39090)gCg>gTg p.A13030V TTN_ENST00000342992.6_Missense_Mutation_p.A10596V|TTN_ENST00000591111.1_Missense_Mutation_p.A11523V|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 11384 Ig-like 86. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AGGAGGAGCCGCTGGCACTTT 0.378000 11 178 0 0 1 0 0 KRTAP9-9 81870 broad.mit.edu 37 17 39411940 39411940 + Silent SNP C C T TCGA-DU-A5TW-01A-11D-A289-08 TCGA-DU-A5TW-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9e20be0-18f4-4677-9605-7f5a9e048aae f42bbddc-fce4-44a1-9cb5-a4d5d2f84693 g.chr17:39411940C>T ENST00000394008.1 + 1 305 c.303C>T c.(301-303)ggC>ggT p.G101G NM_030975.2 NP_112237.2 B5MDD6 B5MDD6_HUMAN keratin associated protein 9-9 101 keratin filament endometrium(3)|skin(2)|upper_aerodigestive_tract(1) 6 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000397) CCAGCTGTGGCCAGAGCAGCT 0.617000 4 154 0 0 1 0 0 IL1RAPL2 26280 broad.mit.edu 37 X 104984622 104984622 + Missense_Mutation SNP A A G TCGA-DU-A5TW-01A-11D-A289-08 TCGA-DU-A5TW-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9e20be0-18f4-4677-9605-7f5a9e048aae f42bbddc-fce4-44a1-9cb5-a4d5d2f84693 g.chrX:104984622A>G ENST00000372582.1 + 8 1742 c.986A>G c.(985-987)tAt>tGt p.Y329C IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.Y329C NM_017416.1 NP_059112.1 Q9NP60 IRPL2_HUMAN interleukin 1 receptor accessory protein-like 2 329 Ig-like C2-type 3. central nervous system development|innate immune response integral to membrane interleukin-1, Type II, blocking receptor activity breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 CTGGCGAATTATACCTGCCAT 0.393000 31 38 0 0 1 0 0 PHF17 0 broad.mit.edu 37 4 129792755 129792755 + Missense_Mutation SNP G G A TCGA-DU-A5TW-01A-11D-A289-08 TCGA-DU-A5TW-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9e20be0-18f4-4677-9605-7f5a9e048aae f42bbddc-fce4-44a1-9cb5-a4d5d2f84693 g.chr4:129792755G>A ENST00000226319.6 + 11 2147 c.1867G>A c.(1867-1869)Ggg>Agg p.G623R PHF17_ENST00000452328.2_Missense_Mutation_p.G611R|PHF17_ENST00000512960.1_Missense_Mutation_p.G623R NM_199320.2 NP_955352.1 Q6IE81 JADE1_HUMAN 623 apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent histone acetyltransferase complex|mitochondrion protein binding|zinc ion binding NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 TAGAAGGGAGGGGATGGTGGT 0.498000 15 68 0 0 1 0 0 PBXIP1 57326 broad.mit.edu 37 1 154918277 154918277 + Missense_Mutation SNP G G A TCGA-DU-A5TW-01A-11D-A289-08 TCGA-DU-A5TW-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9e20be0-18f4-4677-9605-7f5a9e048aae f42bbddc-fce4-44a1-9cb5-a4d5d2f84693 g.chr1:154918277G>A ENST00000368463.3 - 10 1944 c.1873C>T c.(1873-1875)Cgg>Tgg p.R625W PBXIP1_ENST00000539880.1_Missense_Mutation_p.R452W|PBXIP1_ENST00000542459.1_Missense_Mutation_p.R470W|PBXIP1_ENST00000368465.1_Missense_Mutation_p.R596W NM_020524.2 NP_065385.2 Q96AQ6 PBIP1_HUMAN pre-B-cell leukemia homeobox interacting protein 1 625 cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent cytosol|microtubule|nucleus protein binding|transcription corepressor activity breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1) 24 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) CAGGGCAGCCGTGCCAAGTAT 0.617000 10 100 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7574034 7574034 + Splice_Site SNP C C G TCGA-DU-A5TW-01A-11D-A289-08 TCGA-DU-A5TW-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9e20be0-18f4-4677-9605-7f5a9e048aae f42bbddc-fce4-44a1-9cb5-a4d5d2f84693 g.chr17:7574034C>G ENST00000420246.2 - 11 1259 c.e11-1 TP53_ENST00000359597.4_Intron|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Splice_Site NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.?(9)|p.0?(8)|p.I332fs*49(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) GCCCACGGATCTGCAGCAACA 0.512000 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) 29 7 0 0 1 0 0 SGK2 10110 broad.mit.edu 37 20 42204987 42204987 + Missense_Mutation SNP C C G TCGA-DU-A5TW-01A-11D-A289-08 TCGA-DU-A5TW-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9e20be0-18f4-4677-9605-7f5a9e048aae f42bbddc-fce4-44a1-9cb5-a4d5d2f84693 g.chr20:42204987C>G ENST00000373100.1 + 12 1277 c.817C>G c.(817-819)Cag>Gag p.Q273E SGK2_ENST00000341458.4_Missense_Mutation_p.Q333E|SGK2_ENST00000373092.3_Missense_Mutation_p.Q273E|SGK2_ENST00000426287.1_Missense_Mutation_p.Q299E|SGK2_ENST00000423407.3_Missense_Mutation_p.Q273E|SGK2_ENST00000373077.1_Missense_Mutation_p.Q272E Q9HBY8 SGK2_HUMAN serum/glucocorticoid regulated kinase 2 333 Protein kinase. intracellular protein kinase cascade|response to oxidative stress ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) CCACAAGGACCAGAGGCAGCG 0.607000 6 99 0 0 1 0 0 SYTL4 94121 broad.mit.edu 37 X 99956505 99956505 + Missense_Mutation SNP C C T TCGA-DU-A5TW-01A-11D-A289-08 TCGA-DU-A5TW-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9e20be0-18f4-4677-9605-7f5a9e048aae f42bbddc-fce4-44a1-9cb5-a4d5d2f84693 g.chrX:99956505C>T ENST00000372981.1 - 3 461 c.275G>A c.(274-276)cGc>cAc p.R92H SYTL4_ENST00000276141.6_Missense_Mutation_p.R92H|SYTL4_ENST00000372989.1_Missense_Mutation_p.R92H|SYTL4_ENST00000263033.5_Missense_Mutation_p.R92H|SYTL4_ENST00000455616.1_Missense_Mutation_p.R92H|SYTL4_ENST00000454200.2_Missense_Mutation_p.R92H Q96C24 SYTL4_HUMAN synaptotagmin-like 4 92 RabBD. exocytosis|intracellular protein transport extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2) 27 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TTCCTGTATGCGGCAGTCCCG 0.582000 60 97 0 0 1 0 0 AC024560.3 0 broad.mit.edu 37 3 197348668 197348668 + RNA SNP C C G rs79940815 by1000genomes TCGA-DU-A5TW-01A-11D-A289-08 TCGA-DU-A5TW-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9e20be0-18f4-4677-9605-7f5a9e048aae f42bbddc-fce4-44a1-9cb5-a4d5d2f84693 g.chr3:197348668C>G ENST00000418868.1 - 0 591 NR_003266.2 ACTTGAGGCTCTGTCCACCAA 0.488000 4 135 0 0 1 0 0 ANKRD17 26057 broad.mit.edu 37 4 74021734 74021734 + Splice_Site SNP A A G TCGA-DU-A5TW-01A-11D-A289-08 TCGA-DU-A5TW-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9e20be0-18f4-4677-9605-7f5a9e048aae f42bbddc-fce4-44a1-9cb5-a4d5d2f84693 g.chr4:74021734A>G ENST00000358602.4 - 4 969 c.e4+1 ANKRD17_ENST00000330838.6_Splice_Site|ANKRD17_ENST00000509867.2_Splice_Site NM_032217.3 NP_115593.3 O75179 ANR17_HUMAN ankyrin repeat domain 17 interspecies interaction between organisms cytoplasm|nucleus RNA binding NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3) 96 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) GATAATACGAACCTGTGCAAG 0.353000 26 51 0 0 1 0 0 GTF2IRD2P1 0 broad.mit.edu 37 7 72664015 72664015 + RNA SNP C C G TCGA-DU-A5TW-01A-11D-A289-08 TCGA-DU-A5TW-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9e20be0-18f4-4677-9605-7f5a9e048aae f42bbddc-fce4-44a1-9cb5-a4d5d2f84693 g.chr7:72664015C>G ENST00000425256.1 - 0 885 NR_002164.1 ATACCACCCCCGGGGCATGCC 0.507000 5 34 0 0 1 0 0 WFDC6 140870 broad.mit.edu 37 20 44168015 44168015 + Missense_Mutation SNP A A G TCGA-DU-A5TW-01A-11D-A289-08 TCGA-DU-A5TW-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9e20be0-18f4-4677-9605-7f5a9e048aae f42bbddc-fce4-44a1-9cb5-a4d5d2f84693 g.chr20:44168015A>G ENST00000600168.1 - 1 119 c.32T>C c.(31-33)gTa>gCa p.V11A WFDC6_ENST00000372670.3_Missense_Mutation_p.V11A|EPPIN_ENST00000555685.1_Intron|EPPIN-WFDC6_ENST00000504988.1_Intron WAP four-disulfide core domain 6 breast(1)|kidney(1)|large_intestine(2)|lung(2) 6 Myeloproliferative disorder(115;0.0122) GATGAATGGTACCAGGATTGG 0.512000 4 91 0 0 1 0 0 ARID5A 10865 broad.mit.edu 37 2 97217809 97217809 + Missense_Mutation SNP C C T TCGA-DU-A5TW-01A-11D-A289-08 TCGA-DU-A5TW-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9e20be0-18f4-4677-9605-7f5a9e048aae f42bbddc-fce4-44a1-9cb5-a4d5d2f84693 g.chr2:97217809C>T ENST00000454558.2 + 7 2517 c.1340C>T c.(1339-1341)cCg>cTg p.P447L ARID5A_ENST00000357485.3_Missense_Mutation_p.P515L Q03989 ARI5A_HUMAN AT rich interactive domain 5A (MRF1-like) 515 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2) 14 ACTGGCACCCCGGGCCCCTTG 0.721000 46 66 0 0 1 0 0 NCF1 653361 broad.mit.edu 37 7 74203029 74203029 + Silent SNP G G A TCGA-DU-A5TW-01A-11D-A289-08 TCGA-DU-A5TW-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9e20be0-18f4-4677-9605-7f5a9e048aae f42bbddc-fce4-44a1-9cb5-a4d5d2f84693 g.chr7:74203029G>A ENST00000289473.4 + 10 1102 c.1032G>A c.(1030-1032)caG>caA p.Q344Q NM_000265.4 NP_000256.3 P14598 NCF1_HUMAN neutrophil cytosolic factor 1 344 Arg/Lys-rich (highly basic). cell communication|cellular defense response|innate immune response|protein targeting to membrane|respiratory burst|superoxide anion generation cytosol|NADPH oxidase complex|soluble fraction electron carrier activity|GTP binding|GTPase activity|phosphatidylinositol binding|SH3 domain binding|superoxide-generating NADPH oxidase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(3) 10 CGGGACCGCAGAGCCCCGGGA 0.726000 5 14 0 0 1 0 0 TRUB1 142940 broad.mit.edu 37 10 116710901 116710901 + Missense_Mutation SNP G G T rs139774976 TCGA-DU-A5TW-01A-11D-A289-08 TCGA-DU-A5TW-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9e20be0-18f4-4677-9605-7f5a9e048aae f42bbddc-fce4-44a1-9cb5-a4d5d2f84693 g.chr10:116710901G>T ENST00000298746.3 + 3 495 c.434G>T c.(433-435)gGg>gTg p.G145V TRUB1_ENST00000485065.1_3'UTR NM_139169.4 NP_631908.1 Q8WWH5 TRUB1_HUMAN TruB pseudouridine (psi) synthase family member 1 145 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2) 12 Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245) Epithelial(162;0.00879)|all cancers(201;0.0243) ATGTTGTCAGGGTCCAAGGTA 0.299000 17 80 2.94398e-08 3.27853e-08 1 1 0 NFYB 4801 broad.mit.edu 37 12 104517157 104517157 + Silent SNP C C T TCGA-DU-A5TW-01A-11D-A289-08 TCGA-DU-A5TW-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9e20be0-18f4-4677-9605-7f5a9e048aae f42bbddc-fce4-44a1-9cb5-a4d5d2f84693 g.chr12:104517157C>T ENST00000240055.3 - 5 503 c.276G>A c.(274-276)gaG>gaA p.E92E NFYB_ENST00000551727.1_Silent_p.E92E NM_006166.3 NP_006157.1 P25208 NFYB_HUMAN nuclear transcription factor Y, beta 92 B domain.|Subunit association domain (SAD) (By similarity). CCAAT-binding factor complex repressing transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 6 AACTGATGAACTCACTTACAC 0.343000 18 21 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9046871 9046871 + Missense_Mutation SNP G G A TCGA-DU-A5TW-01A-11D-A289-08 TCGA-DU-A5TW-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9e20be0-18f4-4677-9605-7f5a9e048aae f42bbddc-fce4-44a1-9cb5-a4d5d2f84693 g.chr19:9046871G>A ENST00000397910.4 - 5 34963 c.34760C>T c.(34759-34761)aCg>aTg p.T11587M NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 11589 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 CCCAGAAACCGTTGTGCTGGT 0.522000 15 54 0 0 1 0 0 SLC14A2 8170 broad.mit.edu 37 18 43219722 43219722 + Silent SNP C C T TCGA-DU-A5TW-01A-11D-A289-08 TCGA-DU-A5TW-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9e20be0-18f4-4677-9605-7f5a9e048aae f42bbddc-fce4-44a1-9cb5-a4d5d2f84693 g.chr18:43219722C>T ENST00000255226.6 + 7 1671 c.855C>T c.(853-855)gcC>gcT p.A285A SLC14A2_ENST00000586448.1_Silent_p.A285A NM_007163.3 NP_009094.3 Q15849 UT2_HUMAN solute carrier family 14 (urea transporter), member 2 285 apical plasma membrane|integral to membrane|membrane fraction protein binding|urea transmembrane transporter activity NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 TGTTACAAGCCATCCCTGTTG 0.542000 4 134 0 0 1 0 0 SIRPB1 10326 broad.mit.edu 37 20 1585397 1585397 + Missense_Mutation SNP T T C rs148754551 by1000genomes TCGA-DU-A5TW-01A-11D-A289-08 TCGA-DU-A5TW-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9e20be0-18f4-4677-9605-7f5a9e048aae f42bbddc-fce4-44a1-9cb5-a4d5d2f84693 g.chr20:1585397T>C ENST00000279477.7 - 3 806 c.742A>G c.(742-744)Acc>Gcc p.T248A SIRPB1_ENST00000381605.4_Intron|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000568365.1_Missense_Mutation_p.T248A|RP4-576H24.4_ENST00000564763.1_Intron NM_001135844.2 NP_001129316.1 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 248 cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding p.T248A(5) central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 31 CCTCGGATGGTCTCAGACAAG 0.627000 3 45 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144940844 144940844 + Missense_Mutation SNP G G A TCGA-DU-A5TW-01A-11D-A289-08 TCGA-DU-A5TW-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9e20be0-18f4-4677-9605-7f5a9e048aae f42bbddc-fce4-44a1-9cb5-a4d5d2f84693 g.chr8:144940844G>A ENST00000525985.1 - 2 6649 c.6578C>T c.(6577-6579)aCg>aTg p.T2193M P58107 EPIPL_HUMAN epiplakin 1 2193 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CATTTCCTCCGTGATTATGGC 0.552000 86 298 0 0 1 0 0 SVEP1 79987 broad.mit.edu 37 9 113170752 113170752 + Silent SNP A A G TCGA-DU-A5TW-01A-11D-A289-08 TCGA-DU-A5TW-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9e20be0-18f4-4677-9605-7f5a9e048aae f42bbddc-fce4-44a1-9cb5-a4d5d2f84693 g.chr9:113170752A>G ENST00000401783.2 - 38 7464 c.7128T>C c.(7126-7128)tgT>tgC p.C2376C SVEP1_ENST00000374469.1_Silent_p.C2353C|SVEP1_ENST00000297826.5_Silent_p.C302C NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 2376 Sushi 16. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 GAACAATCTTACAAACAGGGA 0.453000 5 39 0 0 1 0 0 SLC5A12 159963 broad.mit.edu 37 11 26734221 26734221 + Silent SNP G G C TCGA-DU-A5TW-01A-11D-A289-08 TCGA-DU-A5TW-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9e20be0-18f4-4677-9605-7f5a9e048aae f42bbddc-fce4-44a1-9cb5-a4d5d2f84693 g.chr11:26734221G>C ENST00000396005.3 - 2 681 c.372C>G c.(370-372)cgC>cgG p.R124R SLC5A12_ENST00000280467.6_Silent_p.R124R NM_178498.3 NP_848593.2 Q1EHB4 SC5AC_HUMAN solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12 124 sodium ion transport apical plasma membrane|integral to membrane symporter activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1) 35 TGGCAGCATAGCGAACTGGTT 0.403000 6 279 0 0 1 0 0 ACPP 55 broad.mit.edu 37 3 132051153 132051153 + Missense_Mutation SNP A A G TCGA-DU-A5TW-01A-11D-A289-08 TCGA-DU-A5TW-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9e20be0-18f4-4677-9605-7f5a9e048aae f42bbddc-fce4-44a1-9cb5-a4d5d2f84693 g.chr3:132051153A>G ENST00000336375.5 + 4 511 c.421A>G c.(421-423)Atc>Gtc p.I141V ACPP_ENST00000351273.7_Missense_Mutation_p.I141V|ACPP_ENST00000475741.1_Missense_Mutation_p.I141V|ACPP_ENST00000489084.1_3'UTR NM_001099.4 NP_001090.2 P15309 PPAP_HUMAN acid phosphatase, prostate 141 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 CTGGCAGCCCATCCCGGTGCA 0.507000 42 56 0 0 1 0 0 RP11-566K19.6 0 broad.mit.edu 37 15 23108827 23108827 + RNA SNP C C T rs2570838 TCGA-DU-A5TW-01A-11D-A289-08 TCGA-DU-A5TW-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9e20be0-18f4-4677-9605-7f5a9e048aae f42bbddc-fce4-44a1-9cb5-a4d5d2f84693 g.chr15:23108827C>T ENST00000557922.1 - 0 302 NR_040057.1 TCGTCTTCATCTTTTTTCTCT 0.393000 3 37 0 0 1 0 0 NOC2L 26155 broad.mit.edu 37 1 883983 883983 + Splice_Site SNP T T C TCGA-DU-A5TW-01A-11D-A289-08 TCGA-DU-A5TW-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9e20be0-18f4-4677-9605-7f5a9e048aae f42bbddc-fce4-44a1-9cb5-a4d5d2f84693 g.chr1:883983T>C ENST00000327044.6 - 13 1493 c.1443_splice c.e13-1 p.M482_splice NM_015658.3 NP_056473.2 Q9Y3T9 NOC2L_HUMAN nucleolar complex associated 2 homolog (S. cerevisiae) 482 nucleolus protein binding endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1) 16 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2) TGCTGGAACATCTGCCCCAAG 0.622000 17 21 0 0 1 0 0 ACCS 84680 broad.mit.edu 37 11 44089249 44089249 + Silent SNP G G T TCGA-DU-A5TW-01A-11D-A289-08 TCGA-DU-A5TW-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9e20be0-18f4-4677-9605-7f5a9e048aae f42bbddc-fce4-44a1-9cb5-a4d5d2f84693 g.chr11:44089249G>T ENST00000263776.8 + 2 506 c.72G>T c.(70-72)ctG>ctT p.L24L ACCS_ENST00000533208.1_3'UTR|ACCS_ENST00000432284.2_Silent_p.L24L NM_001127219.1|NM_032592.3 NP_001120691.1|NP_115981.1 Q96QU6 1A1L1_HUMAN 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional) 24 1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1) 35 TGCAGGACCTGGGCAGTAGCC 0.567000 19 69 3.99206e-14 4.54909e-14 1 1 0 SLCO1B3 28234 broad.mit.edu 37 12 21030809 21030809 + Silent SNP C C T rs145036538 TCGA-DU-A5TW-01A-11D-A289-08 TCGA-DU-A5TW-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9e20be0-18f4-4677-9605-7f5a9e048aae f42bbddc-fce4-44a1-9cb5-a4d5d2f84693 g.chr12:21030809C>T ENST00000381545.3 + 10 1293 c.1074C>T c.(1072-1074)taC>taT p.Y358Y SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Silent_p.Y358Y|SLCO1B3_ENST00000261196.2_Silent_p.Y358Y|LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Silent_p.Y358Y NM_019844.3 NP_062818.1 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, member 1B3 358 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2) 63 Esophageal squamous(101;0.149) CTTTTACTTACGTCTTTAAAT 0.338000 13 51 0 0 1 0 0 GPR4 2828 broad.mit.edu 37 19 46094975 46094975 + Silent SNP G G A TCGA-DU-A5TW-01A-11D-A289-08 TCGA-DU-A5TW-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9e20be0-18f4-4677-9605-7f5a9e048aae f42bbddc-fce4-44a1-9cb5-a4d5d2f84693 g.chr19:46094975G>A ENST00000323040.4 - 2 1094 c.150C>T c.(148-150)aaC>aaT p.N50N OPA3_ENST00000544371.1_Intron NM_005282.2 NP_005273.1 P46093 GPR4_HUMAN G protein-coupled receptor 4 50 integral to plasma membrane G-protein coupled receptor activity breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223) CGCCCAGCTCGTTGCGCTGTT 0.617000 15 106 0 0 1 0 0 EVI2B 2124 broad.mit.edu 37 17 29632058 29632058 + Missense_Mutation SNP A A C rs142498190 TCGA-DU-A5TW-01A-11D-A289-08 TCGA-DU-A5TW-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9e20be0-18f4-4677-9605-7f5a9e048aae f42bbddc-fce4-44a1-9cb5-a4d5d2f84693 g.chr17:29632058A>C ENST00000330927.4 - 2 724 c.570T>G c.(568-570)agT>agG p.S190R NF1_ENST00000356175.3_Intron|NF1_ENST00000358273.4_Intron|EVI2B_ENST00000577894.1_Missense_Mutation_p.S190R|EVI2B_ENST00000544462.1_Missense_Mutation_p.S205R NM_006495.3 NP_006486.3 P34910 EVI2B_HUMAN ecotropic viral integration site 2B 190 cytoplasm|integral to plasma membrane p.0?(8)|p.?(3) breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1) 12 all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094) UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184) TTTGTTTGTTACTGGTAGTAT 0.338000 11 137 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-DU-A5TW-01A-11D-A289-08 TCGA-DU-A5TW-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9e20be0-18f4-4677-9605-7f5a9e048aae f42bbddc-fce4-44a1-9cb5-a4d5d2f84693 g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 6 54 0 0 1 0 0 MGAT3 4248 broad.mit.edu 37 22 39884655 39884655 + Missense_Mutation SNP G G A TCGA-DU-A5TW-01A-11D-A289-08 TCGA-DU-A5TW-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9e20be0-18f4-4677-9605-7f5a9e048aae f42bbddc-fce4-44a1-9cb5-a4d5d2f84693 g.chr22:39884655G>A ENST00000341184.6 + 2 1518 c.1303G>A c.(1303-1305)Gcc>Acc p.A435T NM_001098270.1|NM_002409.4 NP_001091740.1|NP_002400.3 Q09327 MGAT3_HUMAN mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase 435 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1) 24 Melanoma(58;0.04) GCTCGTGTCCGCCCAGAATGG 0.662000 23 38 0 0 1 0 0 ADH1C 126 broad.mit.edu 37 4 100260764 100260766 + RNA DEL TCA TCA - TCGA-DU-A5TW-01A-11D-A289-08 TCGA-DU-A5TW-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9e20be0-18f4-4677-9605-7f5a9e048aae f42bbddc-fce4-44a1-9cb5-a4d5d2f84693 g.chr4:100260764_100260766delTCA ENST00000515683.1 - 0 1422_1424 NM_000669.3 NP_000660.1 P00326 ADH1G_HUMAN alcohol dehydrogenase 1C (class I), gamma polypeptide ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase (NAD) activity|zinc ion binding OV - Ovarian serous cystadenocarcinoma(123;1.08e-07) Fomepizole(DB01213)|NADH(DB00157) GTCAAATCCTTCATTTATTTTTT 0.394 12 57 --- --- --- --- GS1-124K5.2 0 broad.mit.edu 37 7 65888988 65888989 + RNA DEL TT TT - rs75924435 TCGA-DU-A5TW-01A-11D-A289-08 TCGA-DU-A5TW-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9e20be0-18f4-4677-9605-7f5a9e048aae f42bbddc-fce4-44a1-9cb5-a4d5d2f84693 g.chr7:65888988_65888989delTT ENST00000442578.1 - 0 826 tttttttttctttttttttttt 0.485 3 4 --- --- --- --- KATNAL2 83473 broad.mit.edu 37 18 44595881 44595882 + Frame_Shift_Del DEL TG TG - TCGA-DU-A5TW-01A-11D-A289-08 TCGA-DU-A5TW-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9e20be0-18f4-4677-9605-7f5a9e048aae f42bbddc-fce4-44a1-9cb5-a4d5d2f84693 g.chr18:44595881_44595882delTG ENST00000245121.5 + 10 896_897 c.702_703delTG c.(700-705)gctgfs p.AV234fs KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Frame_Shift_Del_p.AV306fs NM_031303.2 NP_112593.2 Q8IYT4 KATL2_HUMAN katanin p60 subunit A-like 2 306 cytoplasm|microtubule ATP binding|microtubule-severing ATPase activity central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2) 27 TGGCCAAAGCTGTGGCCACTGA 0.426 11 65 --- --- --- --- ATRX 546 broad.mit.edu 37 X 76937833 76937836 + Frame_Shift_Del DEL TCTT TCTT - TCGA-DU-A5TW-01A-11D-A289-08 TCGA-DU-A5TW-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9e20be0-18f4-4677-9605-7f5a9e048aae f42bbddc-fce4-44a1-9cb5-a4d5d2f84693 g.chrX:76937833_76937836delTCTT ENST00000373344.5 - 9 3126_3129 c.2912_2915delAAGA c.(2911-2916)acfs p.KD971fs ATRX_ENST00000395603.3_Frame_Shift_Del_p.KD933fs|ATRX_ENST00000480283.1_5'UTR NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 971 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) ATCGCTCTGGTCTTTCTTTAGGAA 0.324 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 90 136 --- --- --- ---