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 LIPE 3991 broad.mit.edu 37 19 42931254 42931254 + Silent SNP T T C TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr19:42931254T>C ENST00000244289.4 - 1 324 c.48A>G c.(46-48)gaA>gaG p.E16E LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000593740.2_RNA|LIPE-AS1_ENST00000594688.1_RNA NM_005357.2 NP_005348.2 Q05469 LIPS_HUMAN lipase, hormone-sensitive 16 cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process caveola|cytosol hormone-sensitive lipase activity|protein binding breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 32 Prostate(69;0.00682) TCTGGTGTGGTTCAGGTTGCC 0.517000 7 28 0 0 0.006214 0 0 CSK 1445 broad.mit.edu 37 15 75094356 75094356 + Missense_Mutation SNP G G A TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr15:75094356G>A ENST00000220003.9 + 12 1831 c.1102G>A c.(1102-1104)Gac>Aac p.D368N CSK_ENST00000567571.1_Missense_Mutation_p.D368N|CSK_ENST00000309470.9_Missense_Mutation_p.D368N|CSK_ENST00000439220.2_Missense_Mutation_p.D368N NM_004383.2 NP_004374.1 P41240 CSK_HUMAN c-src tyrosine kinase 368 Protein kinase. blood coagulation|epidermal growth factor receptor signaling pathway|T cell costimulation|T cell receptor signaling pathway centrosome|cytosol|Golgi apparatus ATP binding|non-membrane spanning protein tyrosine kinase activity|protein C-terminus binding central_nervous_system(1)|lung(2) 3 CACTAAGTCTGACGTGTGGAG 0.532000 26 52 0 0 0.015359 0 0 IRS4 8471 broad.mit.edu 37 X 107978119 107978119 + Missense_Mutation SNP C C T TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chrX:107978119C>T ENST00000372129.2 - 1 1532 c.1456G>A c.(1456-1458)Gac>Aac p.D486N NM_003604.2 NP_003595.1 O14654 IRS4_HUMAN insulin receptor substrate 4 486 plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1) 78 GGCATGTAGTCACCTCCGCTT 0.577000 7 78 0 0 0.004482 0 0 TAF6 6878 broad.mit.edu 37 7 99709745 99709745 + Missense_Mutation SNP C C T TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr7:99709745C>T ENST00000344095.4 - 7 1231 c.706G>A c.(706-708)Gag>Aag p.E236K TAF6_ENST00000437822.2_Missense_Mutation_p.E273K|TAF6_ENST00000418432.2_Missense_Mutation_p.E160K|TAF6_ENST00000472509.1_Missense_Mutation_p.E293K|TAF6_ENST00000453269.2_Missense_Mutation_p.E236K|TAF6_ENST00000452041.1_Missense_Mutation_p.E236K NM_005641.3 NP_005632.1 P49848 TAF6_HUMAN TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa 236 negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2) 26 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CTCTTGGCCTCGCAGGAGCCC 0.672000 7 12 0 0 0.003080 0 0 ZNF599 148103 broad.mit.edu 37 19 35251038 35251038 + Missense_Mutation SNP C C G TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr19:35251038C>G ENST00000329285.8 - 4 1041 c.668G>C c.(667-669)gGa>gCa p.G223A NM_001007248.2 NP_001007249.1 Q96NL3 ZN599_HUMAN zinc finger protein 599 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1) 24 all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.138) GGGCTTCACTCCAGCATGAAT 0.473000 6 204 0 0 0.004482 0 0 SDSL 113675 broad.mit.edu 37 12 113873341 113873341 + Silent SNP C C G TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr12:113873341C>G ENST00000403593.4 + 6 913 c.651C>G c.(649-651)gtC>gtG p.V217V SDSL_ENST00000345635.4_Silent_p.V217V Q96GA7 SDSL_HUMAN serine dehydratase-like 217 cellular amino acid metabolic process L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|pyridoxal phosphate binding endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2) 15 Pyridoxal Phosphate(DB00114) GCAAGCTGGTCACACTTCCAG 0.622000 35 180 0 0 0.036044 0 0 ZNF564 163050 broad.mit.edu 37 19 12637723 12637723 + Missense_Mutation SNP C C T TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr19:12637723C>T ENST00000339282.7 - 4 1395 c.1199G>A c.(1198-1200)aGa>aAa p.R400K CTD-2192J16.20_ENST00000593682.1_3'UTR|ZNF709_ENST00000428311.1_Intron NM_144976.3 NP_659413.1 zinc finger protein 564 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 18 GTCAAAGGCTCTACCACATAC 0.433000 5 118 0 0 0.021553 0 0 BCL2L13 23786 broad.mit.edu 37 22 18210132 18210132 + Silent SNP G G A TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr22:18210132G>A ENST00000317582.5 + 7 1637 c.1290G>A c.(1288-1290)gaG>gaA p.E430E BCL2L13_ENST00000543133.1_Silent_p.E268E|BCL2L13_ENST00000538149.1_Silent_p.E306E|BCL2L13_ENST00000355028.3_3'UTR|BCL2L13_ENST00000485631.1_3'UTR|BCL2L13_ENST00000337612.5_Silent_p.E268E|BCL2L13_ENST00000418951.2_3'UTR NM_015367.3 NP_056182.2 Q9BXK5 B2L13_HUMAN BCL2-like 13 (apoptosis facilitator) 430 induction of apoptosis integral to membrane|mitochondrial membrane|nucleus caspase activator activity breast(2)|central_nervous_system(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(3)|urinary_tract(2) 15 all_epithelial(15;0.123) Lung(27;0.199) CTGCCAGCGAGAAGAAGCCCG 0.592000 12 29 0 0 0.016723 0 0 ITGB4 3691 broad.mit.edu 37 17 73723498 73723498 + Missense_Mutation SNP G G A TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr17:73723498G>A ENST00000200181.3 + 4 363 c.176G>A c.(175-177)cGg>cAg p.R59Q ITGB4_ENST00000339591.3_Missense_Mutation_p.R59Q|ITGB4_ENST00000579662.1_Missense_Mutation_p.R59Q|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000450894.3_Missense_Mutation_p.R59Q|ITGB4_ENST00000449880.2_Missense_Mutation_p.R59Q NM_000213.3 NP_000204.3 P16144 ITB4_HUMAN integrin, beta 4 59 PSI. cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1) 43 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) TTCAGGGACCGGCGCTGCAAC 0.637000 10 41 0 0 0.016723 0 0 NFASC 23114 broad.mit.edu 37 1 204951129 204951129 + Silent SNP C C T TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr1:204951129C>T ENST00000367172.4 + 21 2779 c.2451C>T c.(2449-2451)atC>atT p.I817I NFASC_ENST00000539706.1_Silent_p.I813I|NFASC_ENST00000367169.4_Silent_p.I817I|NFASC_ENST00000360049.4_Silent_p.I813I|NFASC_ENST00000401399.1_Silent_p.I817I|NFASC_ENST00000338586.6_Silent_p.I817I|NFASC_ENST00000367171.4_Silent_p.I802I|NFASC_ENST00000338515.6_Silent_p.I817I|NFASC_ENST00000404907.1_Silent_p.I813I|NFASC_ENST00000513543.1_Silent_p.I813I|NFASC_ENST00000367170.4_Silent_p.I817I|NFASC_ENST00000339876.6_Silent_p.I817I|NFASC_ENST00000404076.1_Silent_p.I796I O94856 NFASC_HUMAN neurofascin 817 Fibronectin type-III 2. axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 81 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) AGTCCGTCATCGGTTACTCCG 0.607000 9 19 0 0 0.016723 0 0 CER1 9350 broad.mit.edu 37 9 14720234 14720234 + Missense_Mutation SNP G G A TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr9:14720234G>A ENST00000380911.3 - 2 702 c.658C>T c.(658-660)Cca>Tca p.P220S NM_005454.2 NP_005445.1 O95813 CER1_HUMAN cerberus 1, DAN family BMP antagonist 220 CTCK. BMP signaling pathway extracellular space cytokine activity endometrium(2)|large_intestine(3)|lung(6) 11 GBM - Glioblastoma multiforme(50;3.16e-06) CAGTTCAGTGGCAAGTGCATC 0.542000 5 134 0 0 0.003080 0 0 XPOT 11260 broad.mit.edu 37 12 64812808 64812808 + Silent SNP C C G TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr12:64812808C>G ENST00000332707.5 + 6 952 c.423C>G c.(421-423)ctC>ctG p.L141L NM_007235.4 NP_009166.2 O43592 XPOT_HUMAN exportin, tRNA 141 Necessary for interaction with Ran, nuclear localization and nuclear import. intracellular protein transport|tRNA export from nucleus cytoplasm|nucleoplasm protein transporter activity|tRNA binding p.L141L(1) NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GBM - Glioblastoma multiforme(28;0.0404) GAGTAGATCTCTACCTGCGAA 0.398000 9 98 0 0 0.006214 0 0 IRS4 8471 broad.mit.edu 37 X 107977998 107977998 + Missense_Mutation SNP C C T TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chrX:107977998C>T ENST00000372129.2 - 1 1653 c.1577G>A c.(1576-1578)gGa>gAa p.G526E NM_003604.2 NP_003595.1 O14654 IRS4_HUMAN insulin receptor substrate 4 526 plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1) 78 GGATCCCTGTCCCTCGCCTGA 0.632000 16 130 0 0 0.012319 0 0 FOXD2 2306 broad.mit.edu 37 1 47904409 47904409 + Nonsense_Mutation SNP G G A TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr1:47904409G>A ENST00000334793.5 + 1 2721 c.602G>A c.(601-603)tGg>tAg p.W201* NM_004474.3 NP_004465.3 O60548 FOXD2_HUMAN forkhead box D2 201 axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding lung(4) 4 READ - Rectum adenocarcinoma(2;0.0908) GGCAACTACTGGACGCTGGAC 0.672000 53 131 0 0 0.014410 0 0 ZNF652 22834 broad.mit.edu 37 17 47395037 47395037 + Silent SNP C C T TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr17:47395037C>T ENST00000362063.2 - 2 369 c.51G>A c.(49-51)gtG>gtA p.V17V ZNF652_ENST00000430262.2_Silent_p.V17V NM_014897.2 NP_055712.1 Q9Y2D9 ZN652_HUMAN zinc finger protein 652 17 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 20 all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17) BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05) CTGCTACATGCACAGCACAGT 0.448000 5 38 0 0 0.003080 0 0 ZNF248 57209 broad.mit.edu 37 10 38121105 38121105 + Nonsense_Mutation SNP G G C TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr10:38121105G>C ENST00000395867.3 - 6 1728 c.1178C>G c.(1177-1179)tCa>tGa p.S393* ZNF248_ENST00000374648.3_Intron|ZNF248_ENST00000494133.1_Intron|ZNF248_ENST00000357328.4_Nonsense_Mutation_p.S393* NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2 NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1 Q8NDW4 ZN248_HUMAN zinc finger protein 248 393 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1) 20 AGTGAGGTTTGACTTCTCCCA 0.453000 23 70 0 0 0.016522 0 0 HOXC4 3221 broad.mit.edu 37 12 54448079 54448079 + Missense_Mutation SNP C C T TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr12:54448079C>T ENST00000430889.2 + 1 419 c.373C>T c.(373-375)Ccc>Tcc p.P125S HOXC4_ENST00000609810.1_Missense_Mutation_p.P125S|HOXC4_ENST00000303406.4_Missense_Mutation_p.P125S NM_153633.2 NP_705897.1 P09017 HXC4_HUMAN homeobox C4 125 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 13 CCCCGACCATCCCTCCAGCGC 0.637000 6 27 0 0 0.003080 0 0 AKAP7 9465 broad.mit.edu 37 6 131490373 131490373 + Silent SNP G G A TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr6:131490373G>A ENST00000431975.2 + 5 647 c.549G>A c.(547-549)ctG>ctA p.L183L AKAP7_ENST00000368123.4_Silent_p.L161L|AKAP7_ENST00000366358.2_Intron|AKAP7_ENST00000541650.1_Silent_p.L182L NM_016377.3 NP_057461.2 O43687 AKA7A_HUMAN A kinase (PRKA) anchor protein 7 0 intracellular signal transduction|ion transport apical plasma membrane|intracellular|lateral plasma membrane protein kinase A binding endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1) 13 Breast(56;0.152) GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345) TTGTGAAGCTGGCAGAAGGAG 0.378000 34 102 0 0 0.030466 0 0 FANCD2 2177 broad.mit.edu 37 3 10107166 10107166 + Missense_Mutation SNP G G A rs150217066 TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr3:10107166G>A ENST00000287647.3 + 24 2350 c.2257G>A c.(2257-2259)Gat>Aat p.D753N FANCD2_ENST00000383806.1_Missense_Mutation_p.D753N|FANCD2_ENST00000419585.1_Missense_Mutation_p.D753N|FANCD2_ENST00000383807.1_Missense_Mutation_p.D753N NM_033084.3 NP_149075.2 Q9BXW9 FACD2_HUMAN Fanconi anemia, complementation group D2 753 DNA repair|response to gamma radiation nucleoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 51 OV - Ovarian serous cystadenocarcinoma(96;0.148) GGAGGAGATTGATGGTCTACT 0.448000 """D, Mis, N, F""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 28 57 0 0 0.013726 0 0 GRAMD1C 54762 broad.mit.edu 37 3 113619898 113619898 + Missense_Mutation SNP C C G TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr3:113619898C>G ENST00000358160.4 + 7 1053 c.561C>G c.(559-561)ttC>ttG p.F187L GRAMD1C_ENST00000452134.2_5'UTR|GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000472026.1_Missense_Mutation_p.F20L|GRAMD1C_ENST00000440446.2_5'UTR NM_017577.4 NP_060047.3 Q8IYS0 GRM1C_HUMAN GRAM domain containing 1C 187 integral to membrane NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3) 26 GACAGGAATTCTGGCAACTGC 0.393000 20 48 0 0 0.018920 0 0 PKD1L1 168507 broad.mit.edu 37 7 47832313 47832313 + Missense_Mutation SNP G G C TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr7:47832313G>C ENST00000289672.2 - 56 8488 c.8438C>G c.(8437-8439)cCc>cGc p.P2813R NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 2813 cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 TTCCAGAAGGGGGAGTTGTAG 0.428000 27 64 0 0 0.037714 0 0 PRDM7 11105 broad.mit.edu 37 16 90126823 90126823 + Missense_Mutation SNP T T G TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr16:90126823T>G ENST00000449207.2 - 9 1178 c.1159A>C c.(1159-1161)Atg>Ctg p.M387L PRDM7_ENST00000407825.1_Intron|PRDM7_ENST00000325921.6_Intron NM_001098173.1 NP_001091643.1 Q9NQW5 PRDM7_HUMAN PR domain containing 7 387 chromosome|nucleus nucleic acid binding lung(2)|ovary(2)|stomach(1) 5 all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0278) CTCATCCCCATACCAGACCAG 0.522000 3 64 0 0 0.004672 0 0 CCRN4L 25819 broad.mit.edu 37 4 139966392 139966392 + Missense_Mutation SNP G G C TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr4:139966392G>C ENST00000280614.2 + 3 1253 c.1060G>C c.(1060-1062)Gat>Cat p.D354H ELF2_ENST00000515489.1_Intron NM_012118.2 NP_036250.2 Q9UK39 NOCT_HUMAN CCR4 carbon catabolite repression 4-like (S. cerevisiae) 354 rhythmic process|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity kidney(2)|large_intestine(3)|lung(3)|ovary(1) 9 all_hematologic(180;0.162) GCTGAGTGCTGATGGGCAGTC 0.517000 15 47 0 0 0.033300 0 0 ZNF577 84765 broad.mit.edu 37 19 52376698 52376698 + Missense_Mutation SNP C C A TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr19:52376698C>A ENST00000420592.1 - 6 1701 c.368G>T c.(367-369)gGa>gTa p.G123V ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000412216.1_Intron|ZNF577_ENST00000301399.5_Missense_Mutation_p.G182V|ZNF577_ENST00000451628.2_Missense_Mutation_p.G123V Q9BSK1 ZN577_HUMAN zinc finger protein 577 182 R -> C (in dbSNP:rs17849895). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 21 all_neural(266;0.0602) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019) GGGTTTCTCTCCTCTTTCAGT 0.468000 4 88 0.000602214 0.000628398 0.014758 1 0 TP53 7157 broad.mit.edu 37 17 7577085 7577085 + Missense_Mutation SNP C C T rs112431538 TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr17:7577085C>T ENST00000420246.2 - 8 985 c.853G>A c.(853-855)Gag>Aag p.E285K TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.E285K|TP53_ENST00000455263.2_Missense_Mutation_p.E285K|TP53_ENST00000445888.2_Missense_Mutation_p.E285K|TP53_ENST00000269305.4_Missense_Mutation_p.E285K NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 285 Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity). E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> V (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.E285K(111)|p.E285*(24)|p.0?(8)|p.E285Q(4)|p.?(2)|p.R283fs*16(2)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.E285fs*60(1)|p.G279fs*59(1)|p.R283fs*56(1)|p.E285fs*20(1)|p.E285fs*13(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(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) TTCTCTTCCTCTGTGCGCCGG 0.562000 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 23 0 0 0.007413 0 0 CASD1 64921 broad.mit.edu 37 7 94164632 94164632 + Missense_Mutation SNP G G A TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr7:94164632G>A ENST00000297273.4 + 8 927 c.640G>A c.(640-642)Gaa>Aaa p.E214K NM_022900.4 NP_075051.4 Q96PB1 CASD1_HUMAN CAS1 domain containing 1 214 integral to membrane NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1) 31 all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215) STAD - Stomach adenocarcinoma(171;0.0031) TCCTGTTTATGAAGATCTATT 0.328000 14 42 0 0 0.028581 0 0 XPOT 11260 broad.mit.edu 37 12 64812733 64812733 + Silent SNP G G A TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr12:64812733G>A ENST00000332707.5 + 6 877 c.348G>A c.(346-348)gaG>gaA p.E116E NM_007235.4 NP_009166.2 O43592 XPOT_HUMAN exportin, tRNA 116 Necessary for interaction with Ran, nuclear localization and nuclear import. intracellular protein transport|tRNA export from nucleus cytoplasm|nucleoplasm protein transporter activity|tRNA binding p.E116E(1) NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GBM - Glioblastoma multiforme(28;0.0404) TTGTTACAGAGTATCTCACTA 0.438000 5 42 0 0 0.021553 0 0 IRS4 8471 broad.mit.edu 37 X 107978233 107978233 + Missense_Mutation SNP C C T TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chrX:107978233C>T ENST00000372129.2 - 1 1418 c.1342G>A c.(1342-1344)Gaa>Aaa p.E448K NM_003604.2 NP_003595.1 O14654 IRS4_HUMAN insulin receptor substrate 4 448 plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1) 78 TTCGGGGCTTCTGCAGGGTGC 0.612000 6 59 0 0 0.021553 0 0 ZNF229 7772 broad.mit.edu 37 19 44933766 44933766 + Missense_Mutation SNP C C T TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr19:44933766C>T ENST00000291187.4 - 6 1494 c.1172G>A c.(1171-1173)aGg>aAg p.R391K CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000588931.1_Missense_Mutation_p.R397K|ZNF229_ENST00000591289.1_Intron NM_001278510.1 NP_001265439.1 Q9UJW7 ZN229_HUMAN zinc finger protein 229 397 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 45 Prostate(69;0.0352) AGTGTGGACCCTCTGATGGAC 0.502000 32 51 0 0 0.013726 0 0 PANK1 53354 broad.mit.edu 37 10 91353589 91353589 + Missense_Mutation SNP C C T TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr10:91353589C>T ENST00000307534.4 - 4 1623 c.1468G>A c.(1468-1470)Gga>Aga p.G490R PANK1_ENST00000322191.6_Intron|PANK1_ENST00000371774.2_Missense_Mutation_p.G292R|PANK1_ENST00000342512.3_Missense_Mutation_p.G265R NM_148977.2 NP_683878.1 Q8TE04 PANK1_HUMAN pantothenate kinase 1 490 coenzyme A biosynthetic process|pantothenate metabolic process cytosol|nucleus ATP binding|pantothenate kinase activity cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2) 11 Bezafibrate(DB01393) ACAGCAGATCCTTGAAGGCCA 0.448000 7 155 0 0 0.008291 0 0 GABRR2 2570 broad.mit.edu 37 6 90024839 90024839 + Missense_Mutation SNP C C A TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr6:90024839C>A ENST00000402938.3 - 1 179 c.46G>T c.(46-48)Gtt>Ttt p.V16F GABRR2_ENST00000602808.1_5'UTR|GABRR2_ENST00000602399.1_Missense_Mutation_p.V41F NM_002043.3 NP_002034.3 P28476 GBRR2_HUMAN gamma-aminobutyric acid (GABA) A receptor, rho 2 41 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1) 21 all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0158) TCCACGAGAACCATCAAGCAA 0.473000 54 143 9.53978e-28 1.08168e-27 0.014410 1 0 OR14K1 343170 broad.mit.edu 37 1 247901963 247901963 + Missense_Mutation SNP C C T TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr1:247901963C>T ENST00000283225.2 + 1 47 c.47C>T c.(46-48)aCt>aTt p.T16I RP11-634B7.4_ENST00000449298.1_RNA olfactory receptor, family 14, subfamily K, member 1 NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1) 27 GTGAGATTTACTGAGAATTGG 0.408000 26 50 0 0 0.019004 0 0 SMARCAL1 50485 broad.mit.edu 37 2 217342939 217342939 + Missense_Mutation SNP G G C rs119473033 TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr2:217342939G>C ENST00000357276.4 + 17 2872 c.2542G>C c.(2542-2544)Gag>Cag p.E848Q SMARCAL1_ENST00000358207.5_Missense_Mutation_p.E848Q NM_014140.3 NP_054859.2 Q9NZC9 SMAL1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 848 Helicase C-terminal. chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter nucleus ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1) 42 Renal(323;0.0458) Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111) CCTGATTCAAGAGAAGATTAA 0.458000 Schimke Immuno-Osseous Dysplasia 33 51 0 0 0.030466 0 0 MDGA2 161357 broad.mit.edu 37 14 47530528 47530528 + Silent SNP C C T TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr14:47530528C>T ENST00000426342.1 - 7 1301 c.555G>A c.(553-555)acG>acA p.T185T MDGA2_ENST00000357362.3_Silent_p.T185T|MDGA2_ENST00000439988.3_Silent_p.T483T|MDGA2_ENST00000399232.2_Silent_p.T414T NM_182830.3 NP_878250.2 Q7Z553 MDGA2_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 2 414 Ig-like 2. spinal cord motor neuron differentiation anchored to membrane|plasma membrane breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5) 76 CACATGTGTACGTCCCAAAAT 0.408000 36 120 0 0 0.014410 0 0 PYGO2 90780 broad.mit.edu 37 1 154933468 154933468 + Missense_Mutation SNP C C A TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr1:154933468C>A ENST00000368457.2 - 2 309 c.138G>T c.(136-138)agG>agT p.R46S PYGO2_ENST00000483463.1_5'UTR|PYGO2_ENST00000368456.1_Missense_Mutation_p.R9S NM_138300.3 NP_612157.1 Q9BRQ0 PYGO2_HUMAN pygopus family PHD finger 2 46 Pro-rich. Wnt receptor signaling pathway nucleus protein binding|zinc ion binding p.R46S(1) endometrium(2)|large_intestine(2)|lung(3)|skin(2)|urinary_tract(1) 10 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) TATTTGACTTCCTTCGCTTCT 0.502000 8 436 6.40141e-05 6.82817e-05 0.010729 1 0 ZNF628 89887 broad.mit.edu 37 19 55993619 55993619 + Silent SNP G G T TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr19:55993619G>T ENST00000598519.1 + 3 1612 c.1059G>T c.(1057-1059)gcG>gcT p.A353A ZNF628_ENST00000391718.2_Silent_p.A349A Q5EBL2 ZN628_HUMAN zinc finger protein 628 349 nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|lung(2) 7 Breast(117;0.155) BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193) GBM - Glioblastoma multiforme(193;0.0531) CCGCCCCCGCGCCTGGCTTTG 0.771000 10 6 2.61681e-11 2.85471e-11 0.020292 1 0 SCGN 10590 broad.mit.edu 37 6 25665182 25665182 + Missense_Mutation SNP G G A TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr6:25665182G>A ENST00000377961.2 + 4 426 c.258G>A c.(256-258)atG>atA p.M86I SCGN_ENST00000334979.6_3'UTR NM_006998.3 NP_008929.2 O76038 SEGN_HUMAN secretagogin, EF-hand calcium binding protein 86 EF-hand 2. extracellular region|transport vesicle membrane calcium ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 24 TTGCTGGTATGTTCTTATCTG 0.478000 15 38 0 0 0.010504 0 0 ANKRD32 84250 broad.mit.edu 37 5 94027275 94027275 + Missense_Mutation SNP C C A TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr5:94027275C>A ENST00000265140.5 + 19 2845 c.2426C>A c.(2425-2427)aCa>aAa p.T809K NM_032290.3 NP_115666.2 Q9BQI6 ANR32_HUMAN ankyrin repeat domain 32 809 NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1) 13 all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152) all cancers(79;3.88e-18) GCAGGAGAAACAGCCCTGCAT 0.353000 7 22 0.00621372 0.00643723 0.006214 1 0 NEB 4703 broad.mit.edu 37 2 152484126 152484126 + Missense_Mutation SNP C C T TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr2:152484126C>T ENST00000427231.2 - 69 10256 c.10054G>A c.(10054-10056)Gac>Aac p.D3352N NEB_ENST00000409198.1_Missense_Mutation_p.D3109N|NEB_ENST00000604864.1_Missense_Mutation_p.D3352N|NEB_ENST00000397345.3_Missense_Mutation_p.D3352N|NEB_ENST00000603639.1_Missense_Mutation_p.D3352N|NEB_ENST00000172853.10_Missense_Mutation_p.D3109N NM_001164507.1|NM_001271208.1 NP_001157979|NP_001258137.1 P20929 NEBU_HUMAN nebulin 3352 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) TTCTTGTAGTCCACATCGCTG 0.522000 8 250 0 0 0.004482 0 0 STAB1 23166 broad.mit.edu 37 3 52552854 52552854 + Nonsense_Mutation SNP C C G TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr3:52552854C>G ENST00000321725.6 + 48 5079 c.5003C>G c.(5002-5004)tCa>tGa p.S1668* NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 1668 FAS1 5. cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) ACGGCCCTCTCAGGGCACCCA 0.721000 4 27 0 0 0.009096 0 0 LINC00471 151477 broad.mit.edu 37 2 232373905 232373905 + RNA SNP C C A TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr2:232373905C>A ENST00000313064.2 - 0 513 NR_024079.1 TGTCTTCATTCTCCTGGTGGC 0.507000 62 115 1.58458e-29 1.81095e-29 0.014410 1 0 SIPA1L3 23094 broad.mit.edu 37 19 38579389 38579389 + Silent SNP G G A TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr19:38579389G>A ENST00000222345.6 + 4 2072 c.1563G>A c.(1561-1563)gaG>gaA p.E521E NM_015073.1 NP_055888.1 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 3 521 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3) 59 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) GCGTGGATGAGAAGCTGGGGC 0.587000 15 33 0 0 0.020292 0 0 PLEC 5339 broad.mit.edu 37 8 145018067 145018067 + Translation_Start_Site SNP C C T TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr8:145018067C>T ENST00000354589.3 - 0 59 PLEC_ENST00000436759.2_Intron|PLEC_ENST00000398774.2_Intron|PLEC_ENST00000527096.1_Intron|PLEC_ENST00000354958.2_Intron|PLEC_ENST00000322810.4_Intron|PLEC_ENST00000356346.3_Intron NM_201382.2 NP_958784.1 Q15149 PLEC_HUMAN plectin cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 ATAGCCGCCACGCGGAGCCGC 0.721000 5 14 0 0 0.029380 0 0 PDILT 204474 broad.mit.edu 37 16 20370721 20370721 + Missense_Mutation SNP C C T TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr16:20370721C>T ENST00000302451.4 - 12 1923 c.1675G>A c.(1675-1677)Gag>Aag p.E559K NM_174924.1 NP_777584.1 Q8N807 PDILT_HUMAN protein disulfide isomerase-like, testis expressed 559 cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis endoplasmic reticulum isomerase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1) 61 ACCACCTCCTCAGATGTTTTC 0.493000 50 282 0 0 0.014410 0 0 TTN 7273 broad.mit.edu 37 2 179613777 179613777 + Missense_Mutation SNP G G C TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr2:179613777G>C ENST00000360870.5 - 46 13572 c.13350C>G c.(13348-13350)caC>caG p.H4450Q TTN_ENST00000589042.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 578 Ig-like 24. 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) TCCCCGGGTAGTGTATCTCTT 0.333000 4 35 0 0 0.014758 0 0 GNAZ 2781 broad.mit.edu 37 22 23438065 23438065 + Silent SNP C C T TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr22:23438065C>T ENST00000248996.4 + 2 849 c.183C>T c.(181-183)ttC>ttT p.F61F RTDR1_ENST00000216036.4_Intron NM_002073.2 NP_002064.1 P19086 GNAZ_HUMAN guanine nucleotide binding protein (G protein), alpha z polypeptide 61 endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1) 19 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.166) GCGGCGGCTTCAACCTGGAGG 0.597000 56 98 0 0 0.014410 0 0 FRG1B 284802 broad.mit.edu 37 20 29625891 29625891 + Silent SNP C C G TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr20:29625891C>G ENST00000278882.3 + 5 515 c.135C>G c.(133-135)ggC>ggG p.G45G FRG1B_ENST00000358464.4_Silent_p.G45G|FRG1B_ENST00000439954.2_Silent_p.G50G endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TGAAATCTGGCTATGGAAAAT 0.343000 3 54 0 0 0.009096 0 0 ZNF878 729747 broad.mit.edu 37 19 12155757 12155757 + Missense_Mutation SNP C C A TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr19:12155757C>A ENST00000602107.1 - 5 599 c.600G>T c.(598-600)agG>agT p.R200S CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|ZNF878_ENST00000547628.1_Missense_Mutation_p.R153S|CTD-2006C1.2_ENST00000591898.1_RNA C9JN71 ZN878_HUMAN zinc finger protein 878 153 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1) 8 AACTGGGAAACCTGAATGCTT 0.423000 7 94 5.18039e-06 5.56699e-06 0.003080 1 0 SYTL2 54843 broad.mit.edu 37 11 85420380 85420380 + Nonsense_Mutation SNP G G C TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr11:85420380G>C ENST00000359152.5 - 6 4531 c.4532C>G c.(4531-4533)tCa>tGa p.S1511* SYTL2_ENST00000389960.4_Nonsense_Mutation_p.S641*|SYTL2_ENST00000533892.1_Nonsense_Mutation_p.S67*|SYTL2_ENST00000529581.1_Nonsense_Mutation_p.S107*|SYTL2_ENST00000525702.1_Nonsense_Mutation_p.S107*|SYTL2_ENST00000354566.3_Nonsense_Mutation_p.S1003*|SYTL2_ENST00000527523.1_Nonsense_Mutation_p.S633*|SYTL2_ENST00000524452.1_Nonsense_Mutation_p.S641*|SYTL2_ENST00000525423.1_Nonsense_Mutation_p.S987*|SYTL2_ENST00000528231.1_Nonsense_Mutation_p.S665*|SYTL2_ENST00000316356.4_Nonsense_Mutation_p.S666*|SYTL2_ENST00000389958.3_Nonsense_Mutation_p.S96* NM_206928.2 NP_996811.1 Q9HCH5 SYTL2_HUMAN synaptotagmin-like 2 665 intracellular protein transport|vesicle docking involved in exocytosis exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237) TTACGGGTCTGAACGCTGTTT 0.413000 40 49 0 0 0.014410 0 0 LRRTM1 347730 broad.mit.edu 37 2 80530714 80530714 + Silent SNP G G A TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr2:80530714G>A ENST00000295057.3 - 2 887 c.231C>T c.(229-231)ctC>ctT p.L77L CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000540488.1_Intron|LRRTM1_ENST00000409148.1_Silent_p.L77L NM_178839.4 NP_849161.2 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 77 axon|endoplasmic reticulum membrane|growth cone|integral to membrane NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 63 GCAGCTCCGAGAGGCTGTTGT 0.647000 HNSCC(69;0.2) 4 63 0 0 0.009096 0 0 CROCCP3 114819 broad.mit.edu 37 1 16802945 16802945 + RNA SNP G G A TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr1:16802945G>A ENST00000263511.4 - 0 2386 NR_023386.1 GGCTCTCGTTGAGGGCGCTCA 0.642000 24 71 0 0 0.021523 0 0 TFAP2B 7021 broad.mit.edu 37 6 50791308 50791308 + Silent SNP C C T TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr6:50791308C>T ENST00000263046.4 + 3 463 c.297C>T c.(295-297)aaC>aaT p.N99N TFAP2B_ENST00000393655.3_Silent_p.N90N|TFAP2B_ENST00000489228.1_3'UTR Q92481 AP2B_HUMAN transcription factor AP-2 beta (activating enhancer binding protein 2 beta) 90 Gln/Pro-rich (transactivation domain). nervous system development|positive regulation of transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1) 40 Lung NSC(77;0.156) CCCACGTCAACGACCCCTACT 0.672000 26 59 0 0 0.012213 0 0 TENM4 26011 broad.mit.edu 37 11 78419499 78419499 + Missense_Mutation SNP G G C TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr11:78419499G>C ENST00000278550.7 - 27 4578 c.4116C>G c.(4114-4116)atC>atG p.I1372M NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 CATTCTGATCGATGCGTCTGA 0.507000 37 20 0 0 0.025465 0 0 PDZD2 23037 broad.mit.edu 37 5 32074304 32074304 + Missense_Mutation SNP C C T TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr5:32074304C>T ENST00000438447.1 + 18 3480 c.3092C>T c.(3091-3093)tCg>tTg p.S1031L PDZD2_ENST00000282493.3_Missense_Mutation_p.S1031L O15018 PDZD2_HUMAN PDZ domain containing 2 1031 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 AAGGCCATCTCGGCACCTCTT 0.567000 54 28 0 0 0.014410 0 0 SMTNL2 342527 broad.mit.edu 37 17 4496232 4496232 + Missense_Mutation SNP G G A TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr17:4496232G>A ENST00000389313.4 + 3 563 c.496G>A c.(496-498)Gat>Aat p.D166N SMTNL2_ENST00000338859.4_Missense_Mutation_p.D22N NM_001114974.1 NP_001108446.1 Q2TAL5 SMTL2_HUMAN smoothelin-like 2 166 breast(1)|endometrium(9)|kidney(1)|lung(1)|skin(1) 13 READ - Rectum adenocarcinoma(115;0.0325) AGGTCCAGGCGATGGACCCCC 0.662000 31 19 0 0 0.027894 0 0 CROT 54677 broad.mit.edu 37 7 87011302 87011302 + Missense_Mutation SNP G G C TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr7:87011302G>C ENST00000331536.3 + 11 1240 c.1055G>C c.(1054-1056)aGa>aCa p.R352T CROT_ENST00000419147.2_Missense_Mutation_p.R380T|CROT_ENST00000442291.1_Missense_Mutation_p.R352T NM_021151.3 NP_066974.2 Q9UKG9 OCTC_HUMAN carnitine O-octanoyltransferase 352 fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport peroxisomal matrix carnitine O-octanoyltransferase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) L-Carnitine(DB00583) AATGAAGGAAGATGGAAGGTA 0.303000 4 31 0 0 0.009096 0 0 FEM1A 55527 broad.mit.edu 37 19 4792857 4792857 + Nonsense_Mutation SNP C C T TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr19:4792857C>T ENST00000269856.3 + 1 1130 c.991C>T c.(991-993)Cag>Tag p.Q331* AC005523.2_ENST00000601192.1_RNA NM_018708.2 NP_061178.1 Q9BSK4 FEM1A_HUMAN fem-1 homolog a (C. elegans) 331 regulation of ubiquitin-protein ligase activity cytoplasm binding|ubiquitin-protein ligase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 17 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139) GCTGCGTCACCAGGGGGGCGA 0.602000 22 40 0 0 0.027356 0 0 PPFIA4 8497 broad.mit.edu 37 1 203025554 203025554 + Missense_Mutation SNP G G A TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr1:203025554G>A ENST00000367240.2 + 17 2622 c.2095G>A c.(2095-2097)Gag>Aag p.E699K PPFIA4_ENST00000414050.2_Missense_Mutation_p.E427K|PPFIA4_ENST00000447715.2_Missense_Mutation_p.E698K|PPFIA4_ENST00000295706.4_Missense_Mutation_p.E214K|PPFIA4_ENST00000272198.6_Missense_Mutation_p.E214K|PPFIA4_ENST00000599966.1_Missense_Mutation_p.E214K O75335 LIPA4_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 214 cell communication cell surface|cytoplasm protein binding NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 50 CATAAAATGTGAGACTTCTCC 0.577000 9 51 0 0 0.010729 0 0 NBEAL1 65065 broad.mit.edu 37 2 204058632 204058632 + Missense_Mutation SNP G G C TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr2:204058632G>C ENST00000449802.1 + 46 7282 c.6949G>C c.(6949-6951)Gag>Cag p.E2317Q NM_001114132.1 NP_001107604.1 Q6ZS30 NBEL1_HUMAN neurobeachin-like 1 2317 binding NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 ATTTTTTATAGAGGTAATATC 0.308000 3 36 0 0 0.014758 0 0 ZNRD1-AS1 80862 broad.mit.edu 37 6 29977342 29977342 + RNA SNP A A T rs116382006 by1000genomes TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr6:29977342A>T ENST00000376797.3 - 0 731 ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA TGGGACTGAGAGGCAAGATTT 0.438000 5 68 0 0 0.021553 0 0 RBP1 5947 broad.mit.edu 37 3 139236517 139236517 + Missense_Mutation SNP C C T TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr3:139236517C>T ENST00000232219.2 - 4 656 c.546G>A c.(544-546)atG>atA p.M182I RP11-319G6.1_ENST00000515247.1_RNA NM_002899.3 NP_002890.2 P09455 RET1_HUMAN retinol binding protein 1, cellular 120 cytoplasm retinal binding|retinol binding|transporter activity endometrium(1)|large_intestine(2)|lung(1)|prostate(1) 5 Vitamin A(DB00162) CTTCCACTCTCATCTCCTGAA 0.488000 34 92 0 0 0.025465 0 0 TMEM5 10329 broad.mit.edu 37 12 64196067 64196067 + Missense_Mutation SNP G G C TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr12:64196067G>C ENST00000261234.6 + 4 783 c.625G>C c.(625-627)Gag>Cag p.E209Q TMEM5_ENST00000537373.1_5'UTR NM_014254.1 NP_055069.1 Q9Y2B1 TMEM5_HUMAN transmembrane protein 5 209 integral to plasma membrane breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1) 15 Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(9;0.0985) GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175) TTGTGATAATGAGTGGATAAA 0.393000 8 36 0 0 0.006214 0 0 OSBPL8 114882 broad.mit.edu 37 12 76763454 76763454 + Missense_Mutation SNP C C G TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr12:76763454C>G ENST00000261183.3 - 20 2682 c.2203G>C c.(2203-2205)Gat>Cat p.D735H OSBPL8_ENST00000393250.4_Missense_Mutation_p.D693H|OSBPL8_ENST00000393249.2_Missense_Mutation_p.D693H NM_020841.4 NP_065892.1 Q9BZF1 OSBL8_HUMAN oxysterol binding protein-like 8 735 lipid transport lipid binding breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2) 28 GTGAGTGGATCAAGTTCAAAT 0.358000 17 56 0 0 0.012319 0 0 SRC 6714 broad.mit.edu 37 20 36012632 36012632 + Missense_Mutation SNP G G A TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr20:36012632G>A ENST00000373578.2 + 4 425 c.76G>A c.(76-78)Ggc>Agc p.G26S SRC_ENST00000360723.4_Missense_Mutation_p.G26S|SRC_ENST00000445403.1_Missense_Mutation_p.G26S|SRC_ENST00000373558.2_Missense_Mutation_p.G26S|SRC_ENST00000358208.4_Missense_Mutation_p.G26S|SRC_ENST00000373567.2_Missense_Mutation_p.G26S NM_198291.1 NP_938033.1 P12931 SRC_HUMAN v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog 26 axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|Ras protein signal transduction|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly|T cell costimulation caveola|cytosol|mitochondrial inner membrane ATP binding|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|SH3/SH2 adaptor activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 30 Myeloproliferative disorder(115;0.00878) Dasatinib(DB01254) GAACGTGCACGGCGCTGGCGG 0.741000 4 31 0 0 0.004482 0 0 IRS4 8471 broad.mit.edu 37 X 107977994 107977994 + Missense_Mutation SNP C C A TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chrX:107977994C>A ENST00000372129.2 - 1 1657 c.1581G>T c.(1579-1581)caG>caT p.Q527H NM_003604.2 NP_003595.1 O14654 IRS4_HUMAN insulin receptor substrate 4 527 plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1) 78 CTCGGGATCCCTGTCCCTCGC 0.632000 17 133 1.10513e-12 1.2148e-12 0.014323 1 0 CD164L2 388611 broad.mit.edu 37 1 27706644 27706644 + Missense_Mutation SNP C C T TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr1:27706644C>T ENST00000374027.3 - 5 478 c.415G>A c.(415-417)Ggg>Agg p.G139R CD164L2_ENST00000374030.1_Missense_Mutation_p.G139R NM_207397.2 NP_997280.1 Q6UWJ8 C16L2_HUMAN CD164 sialomucin-like 2 139 integral to membrane endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1) 4 all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) AAGCTGGCCCCGTCAAATCCA 0.617000 5 93 0 0 0.003080 0 0 SHOX 6473 broad.mit.edu 37 X 591697 591697 + Missense_Mutation SNP G G A TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chrX:591697G>A ENST00000381578.1 + 2 756 c.65G>A c.(64-66)gGa>gAa p.G22E SHOX_ENST00000554971.1_Missense_Mutation_p.G22E|SHOX_ENST00000334060.3_Missense_Mutation_p.G22E|SHOX_ENST00000381575.1_Missense_Mutation_p.G22E NM_000451.3 NP_000442.1 O15266 SHOX_HUMAN short stature homeobox 22 Poly-Gly. skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(3)|lung(9)|prostate(1) 13 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GGTAACGGCGGAGGCGGAGGC 0.627000 5 220 0 0 0.014758 0 0 HIST1H2BO 8348 broad.mit.edu 37 6 27861555 27861555 + Silent SNP G G A TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr6:27861555G>A ENST00000303806.4 + 1 353 c.315G>A c.(313-315)ggG>ggA p.G105G NM_003527.4 NP_003518.2 P23527 H2B1O_HUMAN histone cluster 1, H2bo 105 nucleosome assembly nucleosome|nucleus DNA binding TGCTGCCCGGGGAGCTGGCCA 0.642000 4 114 0 0 0.029380 0 0 WDR96 80217 broad.mit.edu 37 10 105948076 105948076 + Missense_Mutation SNP C C T TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr10:105948076C>T ENST00000357060.3 - 13 1754 c.1639G>A c.(1639-1641)Ggg>Agg p.G547R WDR96_ENST00000428666.1_Missense_Mutation_p.G548R|WDR96_ENST00000278064.2_Missense_Mutation_p.G478R NM_025145.5 NP_079421.5 Q8NDM7 WDR96_HUMAN WD repeat domain 96 547 NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 CTGCTTCTCCCTGCTTCTGGA 0.463000 3 46 0 0 0.004672 0 0 PBX2 5089 broad.mit.edu 37 6 32155525 32155525 + Missense_Mutation SNP C C T TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr6:32155525C>T ENST00000375050.4 - 5 1039 c.769G>A c.(769-771)Gag>Aag p.E257K NM_002586.4 NP_002577.2 P40425 PBX2_HUMAN pre-B-cell leukemia homeobox 2 257 transcription factor binding endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2) 14 TTTAGGACCTCAGTGGCCTGT 0.527000 7 19 0 0 0.003080 0 0 DOCK5 80005 broad.mit.edu 37 8 25174557 25174557 + Missense_Mutation SNP C C G TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr8:25174557C>G ENST00000276440.7 + 14 1397 c.1353C>G c.(1351-1353)atC>atG p.I451M NM_024940.6 NP_079216.4 Q9H7D0 DOCK5_HUMAN dedicator of cytokinesis 5 451 DHR-1. cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143) UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828) TCACCCTGATCCACGGTGAGT 0.478000 3 53 0 0 0.004672 0 0 GDI1 2664 broad.mit.edu 37 X 153668396 153668396 + Missense_Mutation SNP C C T TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chrX:153668396C>T ENST00000447750.2 + 5 832 c.497C>T c.(496-498)aCc>aTc p.T166I NM_001493.2 NP_001484.1 P31150 GDIA_HUMAN GDP dissociation inhibitor 1 166 protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|midbody GTPase activator activity|protein binding autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 16 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CCCCAGACTACCAGCATGCGT 0.552000 6 290 0 0 0.004482 0 0 DHX29 54505 broad.mit.edu 37 5 54586091 54586091 + Missense_Mutation SNP G G C TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr5:54586091G>C ENST00000251636.5 - 7 1010 c.862C>G c.(862-864)Caa>Gaa p.Q288E RP11-506H20.1_ENST00000506435.1_RNA NM_019030.2 NP_061903.2 Q7Z478 DHX29_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 29 288 ATP binding|ATP-dependent helicase activity|translation initiation factor activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2) 46 Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183) TTTTGGCCTTGCTTGTTTTTT 0.328000 3 8 0 0 0.004672 0 0 DCBLD2 131566 broad.mit.edu 37 3 98531284 98531284 + Missense_Mutation SNP T T C TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr3:98531284T>C ENST00000326840.6 - 10 1617 c.1255A>G c.(1255-1257)Aac>Gac p.N419D DCBLD2_ENST00000326857.9_Missense_Mutation_p.N419D NM_080927.3 NP_563615.3 Q96PD2 DCBD2_HUMAN discoidin, CUB and LCCL domain containing 2 419 F5/8 type C. cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing cell surface|integral to plasma membrane breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2) 25 GGCAAAAAGTTATTACGCACA 0.348000 12 31 0 0 0.010729 0 0 HMGCLL1 54511 broad.mit.edu 37 6 55360317 55360317 + Missense_Mutation SNP A A T TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr6:55360317A>T ENST00000398661.2 - 8 916 c.785T>A c.(784-786)aTg>aAg p.M262K HMGCLL1_ENST00000370850.2_Missense_Mutation_p.M129K|HMGCLL1_ENST00000508459.1_Intron|HMGCLL1_ENST00000308161.4_Missense_Mutation_p.M200K|HMGCLL1_ENST00000274901.4_Missense_Mutation_p.M232K NM_019036.2 NP_061909.2 Q8TB92 HMGC2_HUMAN 3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1 262 hydroxymethylglutaryl-CoA lyase activity|metal ion binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 31 Lung NSC(77;0.0875) LUSC - Lung squamous cell carcinoma(124;0.23) ACTTTCCAACATTCTTTTCAT 0.443000 17 44 0 0 0.007413 0 0 TFG 10342 broad.mit.edu 37 3 100463681 100463681 + Missense_Mutation SNP G G C TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr3:100463681G>C ENST00000240851.4 + 7 1066 c.726G>C c.(724-726)caG>caC p.Q242H TFG_ENST00000481203.1_3'UTR|TFG_ENST00000418917.2_Missense_Mutation_p.Q238H|TFG_ENST00000490574.1_Missense_Mutation_p.Q242H|TFG_ENST00000476228.1_Missense_Mutation_p.Q238H NM_001195478.1|NM_001195479.1|NM_006070.5 NP_001182407.1|NP_001182408.1|NP_006061.2 Q92734 TFG_HUMAN TRK-fused gene 242 positive regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm signal transducer activity TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9) large_intestine(4)|lung(2)|prostate(1)|stomach(1) 8 TTTCAGGTCAGATGTACCAAC 0.458000 T """NTRK1, ALK""" """papillary thyroid, ALCL, NSCLC""" 45 102 0 0 0.014410 0 0 ZNF493 284443 broad.mit.edu 37 19 21606712 21606712 + Silent SNP T T C TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr19:21606712T>C ENST00000392288.2 + 4 1360 c.1251T>C c.(1249-1251)tcT>tcC p.S417S CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Silent_p.S289S NM_001076678.2 NP_001070146.1 Q6ZR52 ZN493_HUMAN zinc finger protein 493 289 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 30 ATAAGGAGTCTTCACACCTTA 0.348000 4 35 0 0 0.014758 0 0 CRNN 49860 broad.mit.edu 37 1 152382700 152382700 + Silent SNP A A G TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr1:152382700A>G ENST00000271835.3 - 3 920 c.858T>C c.(856-858)caT>caC p.H286H RP1-91G5.3_ENST00000411804.1_RNA NM_016190.2 NP_057274.1 Q9UBG3 CRNN_HUMAN cornulin 286 Gln-rich. cell-cell adhesion|response to heat cytoplasm|membrane calcium ion binding p.H286H(1) breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) GTATCTGAGCATGTCCTCCTG 0.612000 7 513 0 0 0.003080 0 0 DOCK10 55619 broad.mit.edu 37 2 225651829 225651829 + Silent SNP G G A TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr2:225651829G>A ENST00000409592.3 - 50 5660 c.5547C>T c.(5545-5547)gaC>gaT p.D1849D DOCK10_ENST00000258390.7_Silent_p.D1855D Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 1855 DHR-2. GTP binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 87 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) ACCGATGAATGTCGTAGTAGA 0.403000 5 69 0 0 0.021553 0 0 UGT2B28 54490 broad.mit.edu 37 4 70160324 70160324 + Missense_Mutation SNP T T A TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr4:70160324T>A ENST00000335568.5 + 6 1389 c.1387T>A c.(1387-1389)Tgg>Agg p.W463R UGT2B28_ENST00000511240.1_3'UTR NM_053039.1 NP_444267.1 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B28 463 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 Flunitrazepam(DB01544) AGCAGTCTTCTGGATTGAATT 0.413000 33 79 0 0 0.033182 0 0 IRS4 8471 broad.mit.edu 37 X 107978050 107978050 + Missense_Mutation SNP C C T TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chrX:107978050C>T ENST00000372129.2 - 1 1601 c.1525G>A c.(1525-1527)Ggc>Agc p.G509S NM_003604.2 NP_003595.1 O14654 IRS4_HUMAN insulin receptor substrate 4 509 plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1) 78 GAGCCTTGGCCATTTGAGCCC 0.597000 10 93 0 0 0.020292 0 0 TAS1R3 83756 broad.mit.edu 37 1 1268918 1268918 + Nonsense_Mutation SNP G G T TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr1:1268918G>T ENST00000339381.5 + 6 1665 c.1633G>T c.(1633-1635)Gag>Tag p.E545* NM_152228.1 NP_689414 Q7RTX0 TS1R3_HUMAN taste receptor, type 1, member 3 545 Required for brazzein responsiveness. detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146) Aspartame(DB00168) TGGCCAGGATGAGTGGTCCCC 0.637000 22 60 1.88708e-17 2.10651e-17 0.037714 1 0 IKBKAP 8518 broad.mit.edu 37 9 111663910 111663910 + Missense_Mutation SNP C C T TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr9:111663910C>T ENST00000374647.5 - 17 2213 c.1906G>A c.(1906-1908)Gag>Aag p.E636K IKBKAP_ENST00000537196.1_Missense_Mutation_p.E287K NM_003640.3 NP_003631.2 O95163 ELP1_HUMAN inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein 636 immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex phosphorylase kinase regulator activity|protein binding|signal transducer activity NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 53 CTTGATACCTCAATGTCATTG 0.433000 16 51 0 0 0.007413 0 0 KCNQ2 3785 broad.mit.edu 37 20 62044922 62044922 + Silent SNP G G A TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr20:62044922G>A ENST00000354587.3 - 13 1736 c.1560C>T c.(1558-1560)ttC>ttT p.F520F KCNQ2_ENST00000359125.2_Silent_p.F548F|KCNQ2_ENST00000344462.4_Silent_p.F517F|KCNQ2_ENST00000357249.2_Silent_p.F530F|KCNQ2_ENST00000359689.1_Silent_p.F548F|KCNQ2_ENST00000370224.1_Silent_p.F520F|KCNQ2_ENST00000360480.3_Silent_p.F520F O43526 KCNQ2_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 2 548 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 all_cancers(38;1.24e-11) BRCA - Breast invasive adenocarcinoma(10;1.04e-05) Amitriptyline(DB00321) TGGACACCAGGAACCGCATGA 0.647000 30 85 0 0 0.013726 0 0 NUP210 23225 broad.mit.edu 37 3 13367407 13367407 + Missense_Mutation SNP G G A TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr3:13367407G>A ENST00000254508.5 - 33 4614 c.4532C>T c.(4531-4533)tCg>tTg p.S1511L NM_024923.2 NP_079199.2 Q8TEM1 PO210_HUMAN nucleoporin 210kDa 1511 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_neural(104;0.187) GCTGTTGGCCGAGGAGCTCCA 0.622000 14 76 0 0 0.010504 0 0 SLC16A14 151473 broad.mit.edu 37 2 230911105 230911105 + Missense_Mutation SNP G G C rs111627569 TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr2:230911105G>C ENST00000295190.4 - 4 1195 c.737C>G c.(736-738)aCa>aGa p.T246R NM_152527.4 NP_689740.2 Q7RTX9 MOT14_HUMAN solute carrier family 16, member 14 246 integral to membrane|plasma membrane symporter activity NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948) CTTCTCTTCTGTTCTTCCCTG 0.582000 5 106 0 0 0.029380 0 0 IRS4 8471 broad.mit.edu 37 X 107978105 107978105 + Missense_Mutation SNP C C G TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chrX:107978105C>G ENST00000372129.2 - 1 1546 c.1470G>C c.(1468-1470)atG>atC p.M490I NM_003604.2 NP_003595.1 O14654 IRS4_HUMAN insulin receptor substrate 4 490 plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1) 78 CCCAATTGTTCATAGGCATGT 0.562000 9 82 0 0 0.016723 0 0 CCDC110 256309 broad.mit.edu 37 4 186379933 186379933 + Missense_Mutation SNP C C T TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr4:186379933C>T ENST00000307588.3 - 6 1883 c.1808G>A c.(1807-1809)gGa>gAa p.G603E CCDC110_ENST00000510617.1_Missense_Mutation_p.G603E|CCDC110_ENST00000393540.3_Missense_Mutation_p.G566E NM_152775.3 NP_689988.1 Q8TBZ0 CC110_HUMAN coiled-coil domain containing 110 603 nucleus NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9) 30 all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749) OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164) TAGTTCATTTCCAAGTGAGCT 0.323000 11 21 0 0 0.016723 0 0 TCP10L2 401285 broad.mit.edu 37 6 167590518 167590518 + Silent SNP C C T TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr6:167590518C>T ENST00000366832.2 + 4 525 c.394C>T c.(394-396)Ctg>Ttg p.L132L NM_001145121.1 NP_001138593.1 B9ZVM9 B9ZVM9_HUMAN t-complex 10-like 2 132 endometrium(1)|kidney(2)|lung(3) 6 AATTTCACCTCTGTCAGCTGA 0.418000 12 43 0 0 0.008871 0 0 FAM162A 26355 broad.mit.edu 37 3 122126256 122126256 + Missense_Mutation SNP C C T TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr3:122126256C>T ENST00000469967.1 + 4 460 c.392C>T c.(391-393)tCt>tTt p.S131F FAM162A_ENST00000477892.1_Intron|FAM162A_ENST00000232125.5_Intron Q96A26 F162A_HUMAN family with sequence similarity 162, member A 0 integral to membrane breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1) 6 GGTTTCTTCTCTATCCAGTAT 0.438000 8 16 0 0 0.004482 0 0 IRS4 8471 broad.mit.edu 37 X 107978140 107978140 + Missense_Mutation SNP C C G TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chrX:107978140C>G ENST00000372129.2 - 1 1511 c.1435G>C c.(1435-1437)Gat>Cat p.D479H NM_003604.2 NP_003595.1 O14654 IRS4_HUMAN insulin receptor substrate 4 479 plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1) 78 CCTTCCTGATCTTCTTTGCCC 0.577000 9 64 0 0 0.010729 0 0 ZNRD1-AS1 80862 broad.mit.edu 37 6 29977327 29977327 + RNA SNP T T C rs143365191 by1000genomes TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr6:29977327T>C ENST00000376797.3 - 0 731 ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA GACAGCTGCCTTGTGTGGGAC 0.438000 5 65 0 0 0.021553 0 0 ZNF860 344787 broad.mit.edu 37 3 32032046 32032046 + Missense_Mutation SNP G G A rs143925165 by1000genomes TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr3:32032046G>A ENST00000360311.4 + 2 2024 c.1475G>A c.(1474-1476)cGt>cAt p.R492H NM_001137674.2 NP_001131146.2 A6NHJ4 ZN860_HUMAN zinc finger protein 860 492 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|lung(4)|ovary(1) 8 AAGACCTTCCGTCACAATTCA 0.403000 4 125 0 0 0.014758 0 0 GAREM 64762 broad.mit.edu 37 18 29848220 29848220 + Missense_Mutation SNP C C T TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr18:29848220C>T ENST00000399218.4 - 6 2297 c.2242G>A c.(2242-2244)Gat>Aat p.D748N GAREM_ENST00000269209.6_Missense_Mutation_p.D749N NM_001242409.1|NM_022751.2 NP_001229338.1|NP_073588.1 GRB2 associated, regulator of MAPK1 TCAGCACCATCAATTTTCAGA 0.522000 23 56 0 0 0.024334 0 0 NUDT16 131870 broad.mit.edu 37 3 131100691 131100691 + Missense_Mutation SNP C C G TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr3:131100691C>G ENST00000521288.1 + 1 74 c.43C>G c.(43-45)Ctg>Gtg p.L15V NUDT16_ENST00000502852.1_Missense_Mutation_p.L15V|NUDT16_ENST00000537561.1_Intron|NUDT16_ENST00000359850.3_5'UTR Q96DE0 NUD16_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 16 15 nucleolus|nucleoplasm hydrolase activity|metal ion binding|RNA binding large_intestine(1)|lung(6) 7 GGCCCTGGCGCTGGGGTCGGG 0.706000 7 10 0 0 0.029380 0 0 TSPYL1 7259 broad.mit.edu 37 6 116600209 116600209 + Missense_Mutation SNP C C G TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr6:116600209C>G ENST00000368608.3 - 1 857 c.785G>C c.(784-786)cGa>cCa p.R262P DSE_ENST00000540275.1_Intron NM_003309.3 NP_003300.1 Q9H0U9 TSYL1_HUMAN TSPY-like 1 262 nucleosome assembly nucleolus breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(3)|urinary_tract(1) 11 all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234) all cancers(137;0.0235)|OV - Ovarian serous cystadenocarcinoma(136;0.0469)|GBM - Glioblastoma multiforme(226;0.0503)|Epithelial(106;0.094) CAGGTAGTGTCGACGCATCCG 0.567000 29 110 0 0 0.015359 0 0 NDUFA6 4700 broad.mit.edu 37 22 42486786 42486786 + Missense_Mutation SNP C C G TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr22:42486786C>G ENST00000498737.2 - 1 173 c.41G>C c.(40-42)tGc>tCc p.C14S NM_002490.3 NP_002481.2 P56556 NDUA6_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6, 14kDa 14 mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity kidney(1)|lung(3)|upper_aerodigestive_tract(1) 5 NADH(DB00157) CACCCCTTTGCAAGCAGCGCG 0.622000 OREG0026602 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 212 0 0 0.003080 0 0 TUBA3C 7278 broad.mit.edu 37 13 19751303 19751303 + Missense_Mutation SNP G G A TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr13:19751303G>A ENST00000400113.3 - 4 924 c.820C>T c.(820-822)Ccg>Tcg p.P274S NM_006001.2 NP_005992.1 Q13748 TBA3C_HUMAN tubulin, alpha 3c 274 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1) 72 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108) GAGATGACCGGGGCGTAGGTG 0.607000 49 173 0 0 0.014410 0 0 ACADSB 36 broad.mit.edu 37 10 124793889 124793889 + Silent SNP G G T TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr10:124793889G>T ENST00000358776.4 + 2 74 c.60G>T c.(58-60)ctG>ctT p.L20L ACADSB_ENST00000368869.4_5'UTR|ACADSB_ENST00000496730.2_3'UTR NM_001609.3 NP_001600.1 P45954 ACDSB_HUMAN acyl-CoA dehydrogenase, short/branched chain 20 branched chain family amino acid catabolic process|fatty acid metabolic process mitochondrial matrix flavin adenine dinucleotide binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 17 all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163) Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835) L-Isoleucine(DB00167) GAAATTTCCTGACTTGTTTGT 0.353000 15 22 1.37522e-17 1.54713e-17 0.007413 1 0 MCHR2 84539 broad.mit.edu 37 6 100395738 100395738 + Missense_Mutation SNP C C G TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr6:100395738C>G ENST00000281806.2 - 3 606 c.292G>C c.(292-294)Gag>Cag p.E98Q MCHR2_ENST00000369212.2_Missense_Mutation_p.E98Q NM_001040179.1 NP_001035269.1 Q969V1 MCHR2_HUMAN melanin-concentrating hormone receptor 2 98 integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 39 all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069) BRCA - Breast invasive adenocarcinoma(108;0.0429) AACACCCACTCTCCCCCTCGG 0.493000 4 130 0 0 0.009096 0 0 GCNT4 51301 broad.mit.edu 37 5 74324587 74324587 + Missense_Mutation SNP C C G TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr5:74324587C>G ENST00000322348.4 - 1 2137 c.1276G>C c.(1276-1278)Gaa>Caa p.E426Q NM_016591.2 NP_057675.1 Q9P109 GCNT4_HUMAN glucosaminyl (N-acetyl) transferase 4, core 2 426 protein O-linked glycosylation Golgi membrane|integral to membrane beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2) 19 all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798) OV - Ovarian serous cystadenocarcinoma(47;8.44e-57) TCAAGCTTTTCTGCCAAGCAT 0.373000 13 25 0 0 0.024245 0 0 EFCAB5 374786 broad.mit.edu 37 17 28380460 28380460 + Silent SNP G G A TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr17:28380460G>A ENST00000394835.3 + 10 1680 c.1488G>A c.(1486-1488)caG>caA p.Q496Q EFCAB5_ENST00000541045.1_Silent_p.Q153Q|EFCAB5_ENST00000394832.2_Silent_p.Q496Q|EFCAB5_ENST00000536908.2_Silent_p.Q440Q|EFCAB5_ENST00000320856.5_Silent_p.Q496Q|EFCAB5_ENST00000378738.3_Silent_p.Q496Q NM_198529.3 NP_940931 A4FU69 EFCB5_HUMAN EF-hand calcium binding domain 5 496 calcium ion binding breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 43 TTAACGAACAGAGAACATCAA 0.393000 12 41 0 0 0.020292 0 0 TEX2 55852 broad.mit.edu 37 17 62290518 62290518 + Missense_Mutation SNP C C T TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr17:62290518C>T ENST00000258991.3 - 2 1144 c.1060G>A c.(1060-1062)Gag>Aag p.E354K TEX2_ENST00000584379.1_Missense_Mutation_p.E354K|TEX2_ENST00000583097.1_Missense_Mutation_p.E354K Q8IWB9 TEX2_HUMAN testis expressed 2 354 signal transduction|sphingolipid metabolic process integral to membrane breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(8;1.33e-10) READ - Rectum adenocarcinoma(1115;0.0689) CCATCCCCCTCAGAATCACAC 0.488000 19 67 0 0 0.021523 0 0 EGR2 1959 broad.mit.edu 37 10 64575663 64575663 + Missense_Mutation SNP C C G TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr10:64575663C>G ENST00000242480.3 - 1 452 c.127G>C c.(127-129)Gaa>Caa p.E43Q EGR2_ENST00000411732.1_5'UTR|EGR2_ENST00000493899.2_5'UTR|EGR2_ENST00000439032.1_Missense_Mutation_p.E43Q NM_000399.3|NM_001136177.1 NP_000390.2|NP_001129649.1 P11161 EGR2_HUMAN early growth response 2 43 fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter cytoplasm|nucleus chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1) 36 Prostate(12;0.0297)|all_hematologic(501;0.228) CCTCCCAGTTCGGCATTGGGA 0.622000 4 140 0 0 0.009096 0 0 MED13 9969 broad.mit.edu 37 17 60028189 60028189 + Silent SNP A A G TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr17:60028189A>G ENST00000397786.2 - 28 6364 c.6288T>C c.(6286-6288)ctT>ctC p.L2096L NM_005121.2 NP_005112.2 Q9UHV7 MED13_HUMAN mediator complex subunit 13 2096 androgen 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|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 GCAATACCTTAAGAAAAAGGG 0.413000 39 81 0 0 0.014410 0 0 CHAC1 79094 broad.mit.edu 37 15 41245807 41245807 + Missense_Mutation SNP A A T TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr15:41245807A>T ENST00000446533.3 + 1 461 c.152A>T c.(151-153)aAc>aTc p.N51I CHAC1_ENST00000444189.2_Missense_Mutation_p.N51I NM_001142776.1|NM_024111.3 NP_001136248.1|NP_077016.2 Q9BUX1 CHAC1_HUMAN ChaC, cation transport regulator homolog 1 (E. coli) 51 apoptosis in response to endoplasmic reticulum stress|response to unfolded protein cytosol protein binding endometrium(1)|large_intestine(1)|skin(1) 3 all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;2.66e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.163) GCAGCCCCGAACACCCCGCCC 0.687000 13 60 0 0 0.010504 0 0 MSLNL 401827 broad.mit.edu 37 16 830490 830490 + Missense_Mutation SNP G G A TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr16:830490G>A ENST00000293892.3 - 3 510 c.511C>T c.(511-513)Cgc>Tgc p.R171C MSLNL_ENST00000442466.1_Intron Q96KJ4 MSLNL_HUMAN mesothelin-like 0 cell adhesion integral to membrane p.R171S(1) breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 36 GGATGCGTGCGGGCACGCATG 0.547000 5 190 0 0 0.021553 0 0 CSK 1445 broad.mit.edu 37 15 75094364 75094364 + Missense_Mutation SNP G G T TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr15:75094364G>T ENST00000220003.9 + 12 1839 c.1110G>T c.(1108-1110)tgG>tgT p.W370C CSK_ENST00000567571.1_Missense_Mutation_p.W370C|CSK_ENST00000309470.9_Missense_Mutation_p.W370C|CSK_ENST00000439220.2_Missense_Mutation_p.W370C NM_004383.2 NP_004374.1 P41240 CSK_HUMAN c-src tyrosine kinase 370 Protein kinase. blood coagulation|epidermal growth factor receptor signaling pathway|T cell costimulation|T cell receptor signaling pathway centrosome|cytosol|Golgi apparatus ATP binding|non-membrane spanning protein tyrosine kinase activity|protein C-terminus binding central_nervous_system(1)|lung(2) 3 CTGACGTGTGGAGTTTCGGAA 0.537000 27 52 2.87052e-16 3.17965e-16 0.023175 1 0 KLC2 64837 broad.mit.edu 37 11 66033397 66033397 + Missense_Mutation SNP C C T TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr11:66033397C>T ENST00000394065.2 + 11 2117 c.1099C>T c.(1099-1101)Cgc>Tgc p.R367C KLC2_ENST00000394066.2_Missense_Mutation_p.R429C|KLC2_ENST00000316924.5_Missense_Mutation_p.R506C|KLC2_ENST00000421552.1_Missense_Mutation_p.R429C|KLC2_ENST00000394067.2_Missense_Mutation_p.R506C|KLC2_ENST00000394078.1_Intron|KLC2_ENST00000417856.1_Missense_Mutation_p.R506C Q9H0B6 KLC2_HUMAN kinesin light chain 2 506 blood coagulation cytosol|kinesin complex|microtubule microtubule motor activity|protein binding breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 24 GGGAGACCGCCGCAGCAGCCG 0.667000 4 67 0 0 0.021553 0 0 CDH10 1008 broad.mit.edu 37 5 24491853 24491853 + Missense_Mutation SNP C C G TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr5:24491853C>G ENST00000264463.4 - 11 2215 c.1708G>C c.(1708-1710)Gac>Cac p.D570H CDH10_ENST00000502921.1_5'UTR NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 570 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) TAATCATTGTCTGATATCACC 0.413000 HNSCC(23;0.051) 3 45 0 0 0.004672 0 0 HAND2 9464 broad.mit.edu 37 4 174450071 174450071 + Missense_Mutation SNP C C G TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr4:174450071C>G ENST00000359562.4 - 1 1309 c.370G>C c.(370-372)Gag>Cag p.E124Q HAND2-AS1_ENST00000515310.1_RNA|HAND2-AS1_ENST00000512099.1_RNA|HAND2_ENST00000505300.1_5'UTR NM_021973.2 NP_068808.1 P61296 HAND2_HUMAN heart and neural crest derivatives expressed 2 124 Helix-loop-helix motif. adult heart development|angiogenesis|apoptosis|cardiac neural crest cell development involved in outflow tract morphogenesis|heart looping|in utero embryonic development|negative regulation of cardiac muscle cell apoptosis|noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|regulation of secondary heart field cardioblast proliferation|thymus development nuclear chromatin|transcription factor complex activating transcription factor binding|protein homodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|transcription coactivator activity endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1) 13 Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107) all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249) GGGATGCACTCGCGCAGTTCG 0.667000 44 131 0 0 0.014410 0 0 OTX2 5015 broad.mit.edu 37 14 57268797 57268797 + Missense_Mutation SNP G G A TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr14:57268797G>A ENST00000339475.5 - 5 826 c.550C>T c.(550-552)Ccc>Tcc p.P184S OTX2_ENST00000408990.3_Missense_Mutation_p.P176S|OTX2_ENST00000554788.1_3'UTR|OTX2_ENST00000554559.1_3'UTR|OTX2_ENST00000555006.1_Missense_Mutation_p.P176S NM_001270523.1|NM_001270524.1|NM_001270525.1|NM_021728.3 NP_001257452.1|NP_001257453.1|NP_001257454.1|NP_068374.1 P32243 OTX2_HUMAN orthodenticle homeobox 2 176 axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway growth cone|nucleus|protein complex eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1) 19 Medulloblastoma(1;0.00184)|all_neural(1;0.00414) TAGGTCATGGGATAGGACCTC 0.522000 13 42 0 0 0.006122 0 0 PIGC 5279 broad.mit.edu 37 1 172410941 172410941 + Silent SNP A A G TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr1:172410941A>G ENST00000367728.1 - 1 2285 c.822T>C c.(820-822)ctT>ctC p.L274L PIGC_ENST00000258324.1_Silent_p.L274L|PIGC_ENST00000484368.1_Intron|C1orf105_ENST00000367727.4_Intron|PIGC_ENST00000344529.4_Silent_p.L274L Q92535 PIGC_HUMAN phosphatidylinositol glycan anchor biosynthesis, class C 274 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane phosphatidylinositol N-acetylglucosaminyltransferase activity breast(1)|endometrium(1)|kidney(1)|lung(1) 4 TTTCTTTAAAAAGCTGCAAGC 0.438000 17 57 0 0 0.006122 0 0 ZNF611 81856 broad.mit.edu 37 19 53209409 53209409 + Nonsense_Mutation SNP G G T TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr19:53209409G>T ENST00000543227.1 - 6 1173 c.899C>A c.(898-900)tCa>tAa p.S300* ZNF611_ENST00000319783.1_Nonsense_Mutation_p.S300*|ZNF611_ENST00000595798.1_Nonsense_Mutation_p.S231*|ZNF611_ENST00000540744.1_Nonsense_Mutation_p.S300*|ZNF611_ENST00000602162.1_Nonsense_Mutation_p.S231*|ZNF611_ENST00000453741.2_Nonsense_Mutation_p.S231* NM_001161499.1 NP_001154971.1 Q8N823 ZN611_HUMAN zinc finger protein 611 300 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04) GGTAAGGGATGACTCCTGACT 0.413000 27 192 7.38237e-10 7.99294e-10 0.030593 1 0 REXO1L1 254958 broad.mit.edu 37 8 86574505 86574505 + Missense_Mutation SNP C C A TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr8:86574505C>A ENST00000379010.2 - 1 1221 c.1222G>T c.(1222-1224)Gac>Tac p.D408Y NM_172239.4 NP_758439.4 Q8IX06 GOR_HUMAN REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 1 408 GOR1-125 epitope. cytoplasm|nucleus exonuclease activity|nucleic acid binding endometrium(1)|lung(4) 5 CAGGAGGAGTCGCCGGGCCCC 0.672000 4 43 0.000602214 0.000628398 0.014758 1 0 DNAH10 196385 broad.mit.edu 37 12 124345688 124345688 + Missense_Mutation SNP C C G TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr12:124345688C>G ENST00000409039.3 + 38 6550 c.6525C>G c.(6523-6525)atC>atG p.I2175M NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 2175 AAA 2 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) TCAGGGAAATCAACAAGCCAA 0.463000 7 30 0 0 0.004482 0 0 RB1 5925 broad.mit.edu 37 13 48947629 48947629 + Splice_Site SNP G G A TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr13:48947629G>A ENST00000267163.4 + 12 1353 c.e12+1 NM_000321.2 NP_000312.2 P06400 RB_HUMAN retinoblastoma 1 androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.?(23)|p.0?(15) NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31) 496 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CTATTTTAACGTAAGCCATAT 0.279000 6 """D, Mis, N, F, S""" """retinoblastoma, sarcoma, breast, small cell lung""" """retinoblastoma, sarcoma, breast, small cell lung""" Hereditary Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 17 29 0 0 0.033300 0 0 HIF1A 3091 broad.mit.edu 37 14 62211433 62211433 + Missense_Mutation SNP C C A TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr14:62211433C>A ENST00000394997.1 + 13 2372 c.2107C>A c.(2107-2109)Cct>Act p.P703T HIF1A_ENST00000539097.1_Missense_Mutation_p.P726T|HIF1A_ENST00000323441.6_Missense_Mutation_p.P702T|HIF1A_ENST00000337138.4_Missense_Mutation_p.P702T|HIF1A-AS2_ENST00000554254.1_lincRNA|HIF1A_ENST00000557538.1_Missense_Mutation_p.P643T|RP11-618G20.1_ENST00000555937.1_RNA Q16665 HIF1A_HUMAN hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) 702 ID. cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production cytoplasm|nucleolus|transcription factor complex histone acetyltransferase binding|Hsp90 protein binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4) 23 OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189) AACTACAGTTCCTGAGGAAGA 0.308000 6 17 0.0215528 0.0221686 0.021553 1 0 DEPDC1B 55789 broad.mit.edu 37 5 59893730 59893730 + Silent SNP G G A TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr5:59893730G>A ENST00000265036.5 - 11 1507 c.1440C>T c.(1438-1440)tcC>tcT p.S480S DEPDC1B_ENST00000545085.1_Silent_p.S391S|DEPDC1B_ENST00000453022.2_Silent_p.S418S NM_018369.2 NP_060839.2 Q8WUY9 DEP1B_HUMAN DEP domain containing 1B 480 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2) 17 Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17) CTTCAGGATAGGATTTCTGAA 0.383000 4 11 0 0 0.009096 0 0 KIF23 9493 broad.mit.edu 37 15 69709843 69709843 + Missense_Mutation SNP A A G TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr15:69709843A>G ENST00000260363.4 + 3 320 c.203A>G c.(202-204)tAt>tGt p.Y68C KIF23_ENST00000352331.4_Missense_Mutation_p.Y68C|KIF23_ENST00000559279.1_Missense_Mutation_p.Y68C|KIF23_ENST00000395392.2_Missense_Mutation_p.Y68C NM_138555.2 NP_612565.1 Q02241 KIF23_HUMAN kinesin family member 23 68 Kinesin-motor. blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle ATP binding|microtubule motor activity|protein binding central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1) 21 AATGGAGACTATAAGGAGGTA 0.378000 33 75 0 0 0.030466 0 0 ZNF347 84671 broad.mit.edu 37 19 53644362 53644362 + Silent SNP C C T TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr19:53644362C>T ENST00000452676.2 - 5 2148 c.1722G>A c.(1720-1722)gaG>gaA p.E574E ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000334197.7_Silent_p.E573E|ZNF347_ENST00000601469.2_Silent_p.E574E NM_001172674.1 NP_001166145.1 Q96SE7 ZN347_HUMAN zinc finger protein 347 573 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1) 23 GBM - Glioblastoma multiforme(134;0.0179) CCTTGCCACACTCATTACATT 0.408000 5 247 0 0 0.003080 0 0 ASPM 259266 broad.mit.edu 37 1 197059202 197059202 + Missense_Mutation SNP C C T TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr1:197059202C>T ENST00000367409.4 - 25 10098 c.9842G>A c.(9841-9843)aGa>aAa p.R3281K ASPM_ENST00000367408.1_Missense_Mutation_p.R946K|ASPM_ENST00000294732.7_Missense_Mutation_p.R1696K NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 3281 mitosis cytoplasm|nucleus calmodulin binding breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 TGGAGACAATCTAGTAACTAC 0.333000 14 37 0 0 0.006122 0 0 IER3 8870 broad.mit.edu 37 6 30712140 30712140 + Silent SNP G G A TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr6:30712140G>A ENST00000376377.2 - 1 185 c.156C>T c.(154-156)ccC>ccT p.P52P IER3_ENST00000259874.5_Silent_p.P52P P46695 IEX1_HUMAN immediate early response 3 52 anatomical structure morphogenesis|anti-apoptosis|apoptosis integral to membrane protein binding NS(1) 1 GAGAGGCGCTGGGGCGCCCGG 0.731000 3 7 0 0 0.004672 0 0 C9orf64 84267 broad.mit.edu 37 9 86571110 86571110 + Silent SNP C C A TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr9:86571110C>A ENST00000376344.3 - 1 522 c.306G>T c.(304-306)ctG>ctT p.L102L C9orf64_ENST00000314700.1_5'UTR|C9orf64_ENST00000376340.2_5'UTR NM_032307.3 NP_115683.3 Q5T6V5 CI064_HUMAN chromosome 9 open reading frame 64 102 central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1) 15 CGGCGGCGCACAGGGACCAGT 0.552000 30 137 3.66854e-30 4.22616e-30 0.030466 1 0 ZNF91 7644 broad.mit.edu 37 19 23544783 23544783 + Missense_Mutation SNP C C T rs410211 TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr19:23544783C>T ENST00000300619.7 - 4 1203 c.998G>A c.(997-999)cGt>cAt p.R333H ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.R301H NM_003430.2 NP_003421.2 Q05481 ZNF91_HUMAN zinc finger protein 91 333 R -> H (in Ref. 1; AAA59469). nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R333H(1) all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) GGTTGAAGAACGGCTAAAAGC 0.393000 6 94 0 0 0.029380 0 0 ZNF282 8427 broad.mit.edu 37 7 148895819 148895819 + Missense_Mutation SNP C C T TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr7:148895819C>T ENST00000262085.3 + 2 665 c.560C>T c.(559-561)cCg>cTg p.P187L ZNF282_ENST00000479907.1_Missense_Mutation_p.P187L NM_003575.2 NP_003566.1 Q9UDV7 ZN282_HUMAN zinc finger protein 282 187 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 17 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00171) Lung(243;0.145) CGGCTGCCCCCGGGCAGCAAG 0.597000 10 64 0 0 0.016723 0 0 DNAH11 8701 broad.mit.edu 37 7 21695538 21695538 + Missense_Mutation SNP G G C TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr7:21695538G>C ENST00000328843.6 + 29 5079 c.5048G>C c.(5047-5049)gGa>gCa p.G1683A DNAH11_ENST00000409508.3_Missense_Mutation_p.G1678A Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 1683 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 AGGGCAGTTGGAATGTACAGC 0.428000 Kartagener syndrome 4 35 0 0 0.009096 0 0 XPOT 11260 broad.mit.edu 37 12 64812728 64812728 + Missense_Mutation SNP A A G TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr12:64812728A>G ENST00000332707.5 + 6 872 c.343A>G c.(343-345)Aca>Gca p.T115A NM_007235.4 NP_009166.2 O43592 XPOT_HUMAN exportin, tRNA 115 Necessary for interaction with Ran, nuclear localization and nuclear import. intracellular protein transport|tRNA export from nucleus cytoplasm|nucleoplasm protein transporter activity|tRNA binding p.T115A(2) NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GBM - Glioblastoma multiforme(28;0.0404) GCTTTTTGTTACAGAGTATCT 0.433000 5 42 0 0 0.021553 0 0 KCTD16 57528 broad.mit.edu 37 5 143587001 143587001 + Missense_Mutation SNP G G A TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr5:143587001G>A ENST00000507359.3 + 2 1815 c.724G>A c.(724-726)Gag>Aag p.E242K KCTD16_ENST00000512467.1_Missense_Mutation_p.E242K NM_020768.3 NP_065819.1 Q68DU8 KCD16_HUMAN potassium channel tetramerization domain containing 16 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 21 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176) TATGTTGTCAGAGTGTGGATT 0.428000 26 66 0 0 0.012213 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178772259 178772260 + In_Frame_Ins INS - - GCA TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr5:178772259_178772260insGCA ENST00000251582.7 - 1 171_172 c.70_71insTGC c.(70-72)ccg>cTGCcg p.23_24insL ADAMTS2_ENST00000274609.5_In_Frame_Ins_p.23_24insL NM_014244.4 NP_055059.2 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 2 23 collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7) 72 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) gagcggcggcggcagcagcagc 0.812 5 4 --- --- --- --- LINC01518 101929397 broad.mit.edu 37 10 43178879 43178879 + RNA DEL G G - rs141483266 by1000genomes TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr10:43178879delG ENST00000411439.1 - 0 284 TTCAACGAGCGGGGGGACACT 0.473 2 4 --- --- --- --- EFCAB4A 283229 broad.mit.edu 37 11 831640 831642 + In_Frame_Del DEL CTG CTG - TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr11:831640_831642delCTG ENST00000525077.1 + 9 1232_1234 c.1131_1133delCTG c.(1129-1134)acctgc>acc p.C383del EFCAB4A_ENST00000450448.1_3'UTR|EFCAB4A_ENST00000528542.2_3'UTR|AP006621.8_ENST00000532946.1_RNA Q8N4Y2 EFC4A_HUMAN EF-hand calcium binding domain 4A 383 Cys-rich. store-operated calcium entry calcium ion binding endometrium(1)|large_intestine(1)|lung(1) 3 all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227) all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) CTGGGCCCACCTGCTGCTGCTGC 0.695 3 5 --- --- --- --- RP11-863P13.2 0 broad.mit.edu 37 16 88226611 88226611 + RNA DEL G G - TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cecfbbc-5fe4-4413-95fd-07533aacbb73 e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2 g.chr16:88226611delG ENST00000568587.1 - 0 91 tggtggtgatggtggtgatgg 0.522 8 31 --- --- --- ---