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 ZC3H3 23144 broad.mit.edu 37 8 144523269 144523269 + Silent SNP G G A TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr8:144523269G>A ENST00000262577.5 - 10 2360 c.2329C>T c.(2329-2331)Ctg>Ttg p.L777L NM_015117.2 NP_055932.2 Q8IXZ2 ZC3H3_HUMAN zinc finger CCCH-type containing 3 777 mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus nucleus nucleic acid binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107) TCGGGGCACAGCAGCGTGTGT 0.697000 5 13 0 0 1 0 0 FAM66D 100132923 broad.mit.edu 37 8 11986053 11986053 + RNA SNP G G A TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr8:11986053G>A ENST00000434078.2 + 0 608 NR_027425.1 CACAATGATAGGCATTCTCTC 0.507000 7 84 0 0 1 0 0 GIMAP1 170575 broad.mit.edu 37 7 150416178 150416178 + Splice_Site SNP G G A TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr7:150416178G>A ENST00000307194.5 + 2 183 c.43G>A c.(43-45)Ggt>Agt p.G15S NM_130759.3 NP_570115.1 GTPase, IMAP family member 1 NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 28 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AAATGTCTATGGTAAGACCAT 0.413000 45 56 0 0 1 0 0 RPUSD4 84881 broad.mit.edu 37 11 126081421 126081421 + Missense_Mutation SNP G G C TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr11:126081421G>C ENST00000298317.4 - 1 166 c.113C>G c.(112-114)tCt>tGt p.S38C RPUSD4_ENST00000533628.1_Missense_Mutation_p.S38C|FAM118B_ENST00000533050.1_5'UTR NM_032795.2 NP_116184.2 Q96CM3 RUSD4_HUMAN RNA pseudouridylate synthase domain containing 4 38 pseudouridine synthesis protein binding|pseudouridine synthase activity|RNA binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1) 17 all_hematologic(175;0.145) Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761) TATGGCCGTAGAGGCAGCGGC 0.592000 82 233 0 0 1 0 0 MYH7B 57644 broad.mit.edu 37 20 33587684 33587684 + Missense_Mutation SNP A A G TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr20:33587684A>G ENST00000262873.7 + 36 4974 c.4882A>G c.(4882-4884)Aaa>Gaa p.K1628E NM_020884.3 NP_065935.2 A7E2Y1 MYH7B_HUMAN myosin, heavy chain 7B, cardiac muscle, beta 1586 membrane|myosin filament actin binding|ATP binding|motor activity NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 BRCA - Breast invasive adenocarcinoma(18;0.00691) GCTGGCAGAGAAAGACGAGGA 0.607000 7 36 0 0 1 0 0 ASIC2 40 broad.mit.edu 37 17 32483404 32483404 + Missense_Mutation SNP C C T TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr17:32483404C>T ENST00000359872.6 - 1 909 c.148G>A c.(148-150)Gtg>Atg p.V50M NM_001094.4 NP_001085.2 Q16515 ACCN1_HUMAN acid-sensing (proton-gated) ion channel 2 50 central nervous system development|peripheral nervous system development|synaptic transmission integral to plasma membrane ligand-gated sodium channel activity|protein binding p.V50M(1) Amiloride(DB00594) AGAGAGCCCACGAAGGCCACT 0.592000 30 35 0 0 1 0 0 IRS2 8660 broad.mit.edu 37 13 110434736 110434736 + Missense_Mutation SNP G G A TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr13:110434736G>A ENST00000375856.3 - 1 4179 c.3665C>T c.(3664-3666)cCg>cTg p.P1222L NM_003749.2 NP_003740.2 Q9Y4H2 IRS2_HUMAN insulin receptor substrate 2 1222 fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus cytosol|plasma membrane insulin receptor binding|signal transducer activity kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 19 all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155) Breast(118;0.159) all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147) GGGCTGACCCGGGGTCCACGG 0.716000 22 39 0 0 1 0 0 WWP1 11059 broad.mit.edu 37 8 87410627 87410627 + Missense_Mutation SNP C C G TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr8:87410627C>G ENST00000517970.1 + 6 698 c.391C>G c.(391-393)Caa>Gaa p.Q131E WWP1_ENST00000341922.2_Intron|WWP1_ENST00000265428.4_Missense_Mutation_p.Q131E|WWP1_ENST00000349423.2_Intron NM_007013.3 NP_008944.1 Q9H0M0 WWP1_HUMAN WW domain containing E3 ubiquitin protein ligase 1 131 central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1) 31 TGGCATAGCACAAACTGGTGA 0.338000 58 127 0 0 1 0 0 LARP7 51574 broad.mit.edu 37 4 113575243 113575243 + Silent SNP T T C TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr4:113575243T>C ENST00000509061.1 + 14 1920 c.1617T>C c.(1615-1617)taT>taC p.Y539Y LARP7_ENST00000344442.5_Silent_p.Y532Y|LARP7_ENST00000324052.6_Silent_p.Y532Y NM_001267039.1 NP_001253968.1 Q4G0J3 LARP7_HUMAN La ribonucleoprotein domain family, member 7 532 RNA processing nucleoplasm|ribonucleoprotein complex nucleotide binding|RNA binding endometrium(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1) 17 Ovarian(17;0.0443)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000603) AACAAAGGTATTGGCAGAAGA 0.333000 51 20 0 0 1 0 0 KHDC3L 154288 broad.mit.edu 37 6 74073406 74073406 + Silent SNP G G A TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr6:74073406G>A ENST00000370367.3 + 3 530 c.477G>A c.(475-477)tcG>tcA p.S159S NM_001017361.2 NP_001017361.1 KH domain containing 3-like, subcortical maternal complex member CCCAGCGTTCGGTGGAAGTCC 0.677000 55 5 0 0 1 0 0 ALOX5 240 broad.mit.edu 37 10 45869865 45869865 + Missense_Mutation SNP C C G TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr10:45869865C>G ENST00000374391.2 + 1 191 c.138C>G c.(136-138)ttC>ttG p.F46L ALOX5_ENST00000542434.1_Missense_Mutation_p.F46L NM_000698.3|NM_001256153.1 NP_000689.1|NP_001243082.1 P09917 LOX5_HUMAN arachidonate 5-lipoxygenase 46 PLAT. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 Lung SC(717;0.0257) Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744) ACAACGACTTCGAGCGTGGCG 0.706000 4 8 0 0 1 0 0 ABCA8 10351 broad.mit.edu 37 17 66913585 66913585 + Missense_Mutation SNP T T A TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr17:66913585T>A ENST00000269080.2 - 15 2072 c.1935A>T c.(1933-1935)aaA>aaT p.K645N ABCA8_ENST00000430352.2_Missense_Mutation_p.K685N|ABCA8_ENST00000586539.1_Missense_Mutation_p.K685N NM_007168.2 NP_009099.1 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A (ABC1), member 8 645 ABC transporter 1. integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4) 83 Breast(10;4.56e-13) AGAGAAATACTTTCCTGTCTG 0.373000 33 158 0 0 1 0 0 VPS39 23339 broad.mit.edu 37 15 42458791 42458791 + Missense_Mutation SNP C C T TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr15:42458791C>T ENST00000318006.5 - 15 1738 c.1576G>A c.(1576-1578)Gag>Aag p.E526K VPS39_ENST00000348544.4_Missense_Mutation_p.E537K NM_015289.2 NP_056104.2 Q96JC1 VPS39_HUMAN vacuolar protein sorting 39 homolog (S. cerevisiae) 537 protein transport HOPS complex|late endosome membrane|lysosomal membrane small GTPase regulator activity breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;3.05e-06) ACTGTCCTCTCGTGGCCTTTC 0.552000 22 47 0 0 1 0 0 FGR 2268 broad.mit.edu 37 1 27940977 27940977 + Missense_Mutation SNP G G A TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr1:27940977G>A ENST00000374005.3 - 11 1501 c.1213C>T c.(1213-1215)Cgt>Tgt p.R405C FGR_ENST00000399173.1_Missense_Mutation_p.R405C|FGR_ENST00000374004.1_Missense_Mutation_p.R405C|FGR_ENST00000545953.1_Missense_Mutation_p.R339C NM_005248.2 NP_005239.1 P09769 FGR_HUMAN feline Gardner-Rasheed sarcoma viral oncogene homolog 405 Protein kinase. platelet activation|response to virus cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4) 16 all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) TTGATGAGACGCGCCAAGCCA 0.592000 3 39 0 0 1 0 0 RIMS2 9699 broad.mit.edu 37 8 104898250 104898250 + Nonsense_Mutation SNP G G T TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr8:104898250G>T ENST00000507740.1 + 2 1083 c.847G>T c.(847-849)Gaa>Taa p.E283* RIMS2_ENST00000262231.10_Nonsense_Mutation_p.E283*|RIMS2_ENST00000436393.2_Nonsense_Mutation_p.E253*|RIMS2_ENST00000406091.3_Nonsense_Mutation_p.E475* NM_014677.4 NP_055492.3 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 506 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding p.E283K(1)|p.E511K(1)|p.E253K(1) NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) GGAAAAAATGGAAACAATGTT 0.438000 HNSCC(12;0.0054) 5 145 1.024e-07 1.04614e-07 1 1 0 COPA 1314 broad.mit.edu 37 1 160261931 160261931 + Silent SNP G G A TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr1:160261931G>A ENST00000241704.7 - 29 3247 c.3018C>T c.(3016-3018)ctC>ctT p.L1006L COPA_ENST00000368069.3_Silent_p.L1015L NM_001098398.1|NM_004371.3 NP_001091868.1|NP_004362.2 P53621 COPA_HUMAN coatomer protein complex, subunit alpha 1006 COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction hormone activity|structural molecule activity central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2) 46 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) ACCGTTGGATGAGGTCATTAA 0.502000 OREG0013929 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 75 299 0 0 1 0 0 GATA4 2626 broad.mit.edu 37 8 11614473 11614473 + Missense_Mutation SNP G G T TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr8:11614473G>T ENST00000335135.4 + 6 1585 c.1027G>T c.(1027-1029)Gcc>Tcc p.A343S GATA4_ENST00000528712.1_Missense_Mutation_p.A137S|GATA4_ENST00000532059.1_Missense_Mutation_p.A344S NM_002052.3 NP_002043.2 P43694 GATA4_HUMAN GATA binding protein 4 343 atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development nucleoplasm activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10) 13 all_epithelial(15;0.0839) STAD - Stomach adenocarcinoma(15;0.00225) COAD - Colon adenocarcinoma(149;0.199) CCTTCCTCCCGCCAGCGGTGC 0.617000 75 149 2.6465e-34 2.87465e-34 1 1 0 GTPBP6 8225 broad.mit.edu 37 X 229432 229432 + Splice_Site SNP C C A TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chrX:229432C>A ENST00000326153.4 - 2 229 c.e2+1 O43824 GTPB6_HUMAN GTP binding protein 6 (putative) intracellular GTP binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3) 7 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) CGCGTGCTCACCGCAGTTGGT 0.701000 28 30 4.87955e-14 5.15216e-14 1 1 0 DBI 1622 broad.mit.edu 37 2 120128374 120128374 + Silent SNP G G C TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr2:120128374G>C ENST00000542275.1 + 3 453 c.369G>C c.(367-369)ctG>ctC p.L123L DBI_ENST00000393103.2_Silent_p.L63L|DBI_ENST00000535617.1_Silent_p.L104L|DBI_ENST00000409094.1_Silent_p.L79L|DBI_ENST00000535757.1_Silent_p.L79L|DBI_ENST00000460901.1_3'UTR|DBI_ENST00000311521.4_Silent_p.L79L|DBI_ENST00000355857.3_Silent_p.L62L NM_001178017.1 NP_001171488.1 P07108 ACBP_HUMAN diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein) 62 transport benzodiazepine receptor binding|fatty-acyl-CoA binding kidney(1)|lung(4)|skin(1) 6 GGAATGAGCTGAAAGGTAATT 0.423000 7 7 0 0 1 0 0 CELA3B 23436 broad.mit.edu 37 1 22310796 22310796 + Missense_Mutation SNP C C A TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr1:22310796C>A ENST00000337107.6 + 6 633 c.614C>A c.(613-615)gCt>gAt p.A205D CELA3B_ENST00000473526.1_3'UTR NM_007352.2 NP_031378.1 P08861 CEL3B_HUMAN chymotrypsin-like elastase family, member 3B 205 Peptidase S1. cholesterol metabolic process|proteolysis extracellular region serine-type endopeptidase activity breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1) 8 ATGGTGTGTGCTGGAGGGGAC 0.612000 17 175 7.41877e-09 7.62037e-09 1 1 0 GPR158 57512 broad.mit.edu 37 10 25887393 25887393 + Silent SNP A A C TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr10:25887393A>C ENST00000376351.3 + 11 3197 c.2838A>C c.(2836-2838)tcA>tcC p.S946S GPR158_ENST00000490549.1_3'UTR NM_020752.2 NP_065803.2 Q5T848 GP158_HUMAN G protein-coupled receptor 158 946 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 GAAATCACTCAAATTCTGATA 0.428000 81 150 0 0 1 0 0 BTF3 689 broad.mit.edu 37 5 72798326 72798326 + Missense_Mutation SNP G G C TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr5:72798326G>C ENST00000380591.3 + 3 434 c.215G>C c.(214-216)aGa>aCa p.R72T BTF3_ENST00000514505.2_3'UTR|BTF3_ENST00000335895.8_Missense_Mutation_p.R28T NM_001037637.1 NP_001032726.1 P20290 BTF3_HUMAN basic transcription factor 3 72 Missing (in Ref. 2; AAA58398). regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding endometrium(1)|large_intestine(2)|lung(2) 5 Lung NSC(167;0.00405)|Ovarian(174;0.0175) OV - Ovarian serous cystadenocarcinoma(47;2.73e-54) ACTGCTCGCAGAAAGAAGAAG 0.378000 9 41 0 0 1 0 0 ATP8B4 79895 broad.mit.edu 37 15 50152544 50152544 + Silent SNP G G T TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr15:50152544G>T ENST00000284509.6 - 28 3567 c.3426C>A c.(3424-3426)atC>atA p.I1142I ATP8B4_ENST00000559829.1_Silent_p.I1142I NM_024837.2 NP_079113.2 Q8TF62 AT8B4_HUMAN ATPase, class I, type 8B, member 4 1142 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) TTCCAGATGTGATAAGCTCTC 0.463000 38 66 4.14481e-20 4.40095e-20 1 1 0 GRIK5 2901 broad.mit.edu 37 19 42507489 42507489 + Missense_Mutation SNP C C T TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr19:42507489C>T ENST00000262895.3 - 18 2508 c.2509G>A c.(2509-2511)Gag>Aag p.E837K GRIK5_ENST00000301218.4_Missense_Mutation_p.E837K|GRIK5_ENST00000593562.1_Missense_Mutation_p.E837K NM_002088.4 NP_002079.3 Q16478 GRIK5_HUMAN glutamate receptor, ionotropic, kainate 5 837 cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 35 Prostate(69;0.059) L-Glutamic Acid(DB00142) CTCACCTCCTCGGACTCAGCT 0.587000 38 20 0 0 1 0 0 AADACL4 343066 broad.mit.edu 37 1 12704655 12704655 + Silent SNP C C A TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr1:12704655C>A ENST00000376221.1 + 1 90 c.90C>A c.(88-90)acC>acA p.T30T NM_001013630.1 NP_001013652.1 Q5VUY2 ADCL4_HUMAN arylacetamide deacetylase-like 4 30 integral to membrane carboxylesterase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1) 17 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384) ACTTCCTCACCACGGATATCC 0.532000 4 250 1 1 1 1 0 SLC27A1 376497 broad.mit.edu 37 19 17598009 17598009 + Missense_Mutation SNP G G T TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr19:17598009G>T ENST00000252595.7 + 3 686 c.589G>T c.(589-591)Ggg>Tgg p.G197W SLC27A1_ENST00000598424.1_Missense_Mutation_p.G18W|SLC27A1_ENST00000442725.1_Missense_Mutation_p.G197W NM_198580.1 NP_940982.1 Q6PCB7 S27A1_HUMAN solute carrier family 27 (fatty acid transporter), member 1 197 Sufficient for oligomerization (By similarity). cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport endomembrane system|integral to membrane fatty acid transporter activity|nucleotide binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 CGGGCATCTGGGGAAAAGTTT 0.642000 16 42 1.99824e-07 2.01961e-07 1 1 0 PSG2 5670 broad.mit.edu 37 19 43576025 43576025 + Missense_Mutation SNP T T C TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr19:43576025T>C ENST00000406487.1 - 4 889 c.791A>G c.(790-792)aAc>aGc p.N264S NM_031246.3 NP_112536.2 P11465 PSG2_HUMAN pregnancy specific beta-1-glycoprotein 2 264 Ig-like C2-type 2. cell migration|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2) 49 Prostate(69;0.00682) TGGGTTAGAGTTCGCGAAGCA 0.443000 89 173 0 0 1 0 0 BCAT2 587 broad.mit.edu 37 19 49303479 49303479 + Missense_Mutation SNP G G A TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr19:49303479G>A ENST00000402551.1 - 5 876 c.256C>T c.(256-258)Cgg>Tgg p.R86W BCAT2_ENST00000597011.1_Missense_Mutation_p.R86W|BCAT2_ENST00000545387.2_Missense_Mutation_p.R34W|BCAT2_ENST00000598162.1_Missense_Mutation_p.R126W|BCAT2_ENST00000316273.6_Missense_Mutation_p.R126W|BCAT2_ENST00000599246.1_Missense_Mutation_p.R34W NM_001284325.1 NP_001271254.1 O15382 BCAT2_HUMAN branched chain amino-acid transaminase 2, mitochondrial 126 mitochondrial matrix L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1) 12 all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224) L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|Pyridoxal Phosphate(DB00114) CGCAGCATCCGGTCCATGTTG 0.697000 20 46 0 0 1 0 0 FEZ1 9638 broad.mit.edu 37 11 125359415 125359415 + Missense_Mutation SNP C C T TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr11:125359415C>T ENST00000278919.3 - 2 493 c.259G>A c.(259-261)Gtg>Atg p.V87M FEZ1_ENST00000524435.1_Missense_Mutation_p.V87M|FEZ1_ENST00000366139.3_Missense_Mutation_p.V87M NM_005103.4 NP_005094.1 Q99689 FEZ1_HUMAN fasciculation and elongation protein zeta 1 (zygin I) 87 axon guidance|cell adhesion|transport microtubule|plasma membrane breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 24 all_hematologic(175;0.228) Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934) TGGTTCTTCACGGGAGCTAGG 0.493000 6 158 0 0 1 0 0 TNR 7143 broad.mit.edu 37 1 175365806 175365806 + Missense_Mutation SNP G G A TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr1:175365806G>A ENST00000367674.2 - 5 1822 c.1114C>T c.(1114-1116)Cgg>Tgg p.R372W TNR_ENST00000263525.2_Missense_Mutation_p.R372W Q92752 TENR_HUMAN tenascin R Fibronectin type-III 1. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) CCAGGCACCCGCTGCTGGAGC 0.597000 21 72 0 0 1 0 0 TLN1 7094 broad.mit.edu 37 9 35725306 35725306 + Missense_Mutation SNP C C T TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr9:35725306C>T ENST00000314888.9 - 3 496 c.143G>A c.(142-144)gGg>gAg p.G48E TLN1_ENST00000540444.1_Missense_Mutation_p.G48E NM_006289.3 NP_006280.3 Q9Y490 TLN1_HUMAN talin 1 48 axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6) 85 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) CAGAAAGAGCCCAAAGTCGCT 0.478000 11 32 0 0 1 0 0 PCDHA3 56145 broad.mit.edu 37 5 140180999 140180999 + Missense_Mutation SNP G G A TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr5:140180999G>A ENST00000522353.2 + 1 217 c.217G>A c.(217-219)Gac>Aac p.D73N PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.D73N NM_018906.2 NP_061729.1 NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAGACACGGGGACCTTCTGGA 0.622000 180 109 0 0 1 0 0 AGAP11 119385 broad.mit.edu 37 10 88754630 88754630 + RNA SNP G G A TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr10:88754630G>A ENST00000444431.1 + 0 305 RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA Q8TF27 AGA11_HUMAN ankyrin repeat and GTPase domain Arf GTPase activating protein 11 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding ACATTAACATGATGATTGATC 0.413000 14 21 0 0 1 0 0 BAP1 8314 broad.mit.edu 37 3 52441219 52441219 + Missense_Mutation SNP T T G TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr3:52441219T>G ENST00000460680.1 - 7 1022 c.551A>C c.(550-552)gAt>gCt p.D184A BAP1_ENST00000296288.5_Missense_Mutation_p.D184A NM_004656.2 NP_004647.1 Q92560 BAP1_HUMAN BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) 184 Important for enzyme activity (By similarity). monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process cytoplasm|nucleolus|PR-DUB complex chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2) 180 BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277) CTTCAGCCCATCCAGCTCAAA 0.592000 """N, Mis, F, S, O""" """uveal melanoma, breast, NSCLC, RCC""" """mesothelioma, uveal melanoma""" 26 30 0 0 1 0 0 KCNH4 23415 broad.mit.edu 37 17 40317675 40317675 + Missense_Mutation SNP G G A TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr17:40317675G>A ENST00000264661.3 - 11 2209 c.1877C>T c.(1876-1878)cCg>cTg p.P626L KCNH4_ENST00000607371.1_Missense_Mutation_p.P626L NM_012285.2 NP_036417.1 Q9UQ05 KCNH4_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 4 626 regulation of transcription, DNA-dependent voltage-gated potassium channel complex two-component sensor activity|voltage-gated potassium channel activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1) 32 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) CTCCTGCCCCGGCTCAGGGAT 0.577000 21 60 0 0 1 0 0 ITGA6 3655 broad.mit.edu 37 2 173354269 173354269 + Silent SNP G G A TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr2:173354269G>A ENST00000375221.2 + 21 2882 c.2679G>A c.(2677-2679)caG>caA p.Q893Q ITGA6_ENST00000264106.6_Silent_p.Q893Q|ITGA6_ENST00000343713.4_Silent_p.Q849Q|ITGA6_ENST00000409080.1_Silent_p.Q854Q|ITGA6_ENST00000409532.1_Silent_p.Q735Q|ITGA6_ENST00000264107.7_Silent_p.Q854Q|AC093818.1_ENST00000442417.1_RNA P23229 ITA6_HUMAN integrin, alpha 6 893 blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter integrin complex protein binding|receptor activity NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 44 OV - Ovarian serous cystadenocarcinoma(117;0.0979) TGAACATTCAGTGGCCAAAAG 0.353000 12 31 0 0 1 0 0 HNRNPC 3183 broad.mit.edu 37 14 21679423 21679423 + Missense_Mutation SNP C C T TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr14:21679423C>T ENST00000430246.2 - 8 3792 c.841G>A c.(841-843)Gag>Aag p.E281K HNRNPC_ENST00000557201.1_Missense_Mutation_p.E294K|HNRNPC_ENST00000556513.1_3'UTR|HNRNPC_ENST00000553300.1_Missense_Mutation_p.E281K|HNRNPC_ENST00000553753.1_3'UTR|HNRNPC_ENST00000555914.1_Missense_Mutation_p.E280K|HNRNPC_ENST00000555883.1_Missense_Mutation_p.E238K|HNRNPC_ENST00000554455.1_Missense_Mutation_p.E294K|HNRNPC_ENST00000556142.1_3'UTR|HNRNPC_ENST00000420743.2_Missense_Mutation_p.E294K|HNRNPC_ENST00000320084.7_Missense_Mutation_p.E294K|HNRNPC_ENST00000556897.1_Missense_Mutation_p.E281K|HNRNPC_ENST00000555309.1_Missense_Mutation_p.E293K|HNRNPC_ENST00000556628.1_Missense_Mutation_p.E214K|HNRNPC_ENST00000336053.6_3'UTR|HNRNPC_ENST00000554969.1_Missense_Mutation_p.E281K|HNRNPC_ENST00000449098.1_Missense_Mutation_p.E281K P07910 HNRPC_HUMAN heterogeneous nuclear ribonucleoprotein C (C1/C2) 294 Asp/Glu-rich (acidic). catalytic step 2 spliceosome|nucleoplasm identical protein binding|nucleotide binding|RNA binding breast(1)|liver(1)|lung(6)|skin(1) 9 all_cancers(95;0.00176) Epithelial(56;1.08e-06)|all cancers(55;8.95e-06) GBM - Glioblastoma multiforme(265;0.00783) CTGTCATCCTCTCCTTCCTCA 0.468000 7 262 0 0 1 0 0 RAC1 5879 broad.mit.edu 37 7 6426883 6426883 + Missense_Mutation SNP A A G TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr7:6426883A>G ENST00000348035.4 + 2 289 c.76A>G c.(76-78)Aat>Gat p.N26D RAC1_ENST00000488373.1_3'UTR|RAC1_ENST00000356142.4_Missense_Mutation_p.N26D NM_006908.4 NP_008839.2 P63000 RAC1_HUMAN ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1) 26 N -> D (in dbSNP:rs5830). actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction cytosol|melanosome|plasma membrane GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 8 Ovarian(82;0.0776) UCEC - Uterine corpus endometrioid carcinoma (126;0.104) Pravastatin(DB00175)|Simvastatin(DB00641) TTACACAACCAATGCATTTCC 0.348000 31 47 0 0 1 0 0 F7 2155 broad.mit.edu 37 13 113768274 113768274 + Splice_Site SNP C C T TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr13:113768274C>T ENST00000375581.3 + 5 465 c.430C>T c.(430-432)Cac>Tac p.H144Y F7_ENST00000346342.3_Splice_Site_p.H122Y|F7_ENST00000541084.1_Splice_Site_p.H75Y|F7_ENST00000473085.1_3'UTR NM_000131.4 NP_000122.1 P08709 FA7_HUMAN coagulation factor VII (serum prothrombin conversion accelerator) 144 anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis endoplasmic reticulum lumen|Golgi lumen|plasma membrane calcium ion binding|glycoprotein binding|serine-type endopeptidase activity large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 16 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188) all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218) Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170) CTGTGAGACGCGTAAGGCCCC 0.632000 97 25 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126372119 126372119 + Missense_Mutation SNP T T G TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr4:126372119T>G ENST00000394329.3 + 9 9961 c.9948T>G c.(9946-9948)atT>atG p.I3316M FAT4_ENST00000335110.5_Missense_Mutation_p.I1614M NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 3316 Cadherin 32. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 AAGGTACTATTGTTGGAGAAG 0.378000 4 118 0 0 1 0 0 HNRNPU 3192 broad.mit.edu 37 1 245027590 245027590 + Missense_Mutation SNP T T C TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr1:245027590T>C ENST00000444376.2 - 1 254 c.20A>G c.(19-21)aAt>aGt p.N7S HNRNPU_ENST00000283179.9_Missense_Mutation_p.N7S NM_004501.3|NM_031844.2 NP_004492.2|NP_114032.2 Q00839 HNRPU_HUMAN heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A) 7 Asp/Glu-rich (acidic). CRD-mediated mRNA stabilization catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm ATP binding|DNA binding|protein binding|RNA binding NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.00868) CTTTTTTACATTAACAGGCGA 0.597000 9 34 0 0 1 0 0 STK10 6793 broad.mit.edu 37 5 171583660 171583660 + Missense_Mutation SNP G G C TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr5:171583660G>C ENST00000176763.5 - 2 632 c.289C>G c.(289-291)Ctg>Gtg p.L97V NM_005990.3 NP_005981.3 O94804 STK10_HUMAN serine/threonine kinase 10 97 Protein kinase. ATP binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 47 Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094) Medulloblastoma(196;0.00868)|all_neural(177;0.026) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) TAGGCTCCCAGGAGCTTCACA 0.597000 57 39 0 0 1 0 0 DUSP27 92235 broad.mit.edu 37 1 167095767 167095767 + Missense_Mutation SNP C C T TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr1:167095767C>T ENST00000361200.2 + 6 1565 c.1399C>T c.(1399-1401)Cgc>Tgc p.R467C DUSP27_ENST00000443333.1_Missense_Mutation_p.R467C|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.R467C Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) 467 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 CAGGAGGCGCCGCGCAGACTC 0.652000 4 35 0 0 1 0 0 CYP2B6 1555 broad.mit.edu 37 19 41518655 41518655 + Missense_Mutation SNP C C T TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr19:41518655C>T ENST00000324071.4 + 8 1236 c.1229C>T c.(1228-1230)cCt>cTt p.P410L CYP2B6_ENST00000330446.5_Missense_Mutation_p.P210L|CYP2B6_ENST00000593831.1_Missense_Mutation_p.P174L NM_000767.4 NP_000758.1 P20813 CP2B6_HUMAN cytochrome P450, family 2, subfamily B, polypeptide 6 410 cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 28 LUSC - Lung squamous cell carcinoma(20;0.00322) Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361) GCCTTCAATCCTGACCACTTT 0.468000 45 217 0 0 1 0 0 EYA4 2070 broad.mit.edu 37 6 133789711 133789711 + Missense_Mutation SNP C C G TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr6:133789711C>G ENST00000367895.5 + 11 1276 c.812C>G c.(811-813)cCa>cGa p.P271R EYA4_ENST00000355167.3_Missense_Mutation_p.P271R|EYA4_ENST00000355286.6_Missense_Mutation_p.P248R|EYA4_ENST00000430974.2_Missense_Mutation_p.P217R|EYA4_ENST00000431403.2_Missense_Mutation_p.P271R|EYA4_ENST00000452339.2_Missense_Mutation_p.P217R|EYA4_ENST00000525849.1_Missense_Mutation_p.P248R|EYA4_ENST00000531901.1_Missense_Mutation_p.P271R NM_004100.4 NP_004091.3 O95677 EYA4_HUMAN eyes absent homolog 4 (Drosophila) 271 anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1) 48 Colorectal(23;0.221) GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152) CAGGATTATCCATCCTATACA 0.383000 5 59 0 0 1 0 0 CNTNAP3B 728577 broad.mit.edu 37 9 43828112 43828112 + Silent SNP A A G rs150656228 by1000genomes TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr9:43828112A>G ENST00000377564.3 + 9 1761 c.1368A>G c.(1366-1368)gtA>gtG p.V456V NM_001201380.1 NP_001188309.1 Q96NU0 CNT3B_HUMAN contactin associated protein-like 3B 456 Laminin G-like 2. cell adhesion|signal transduction integral to membrane receptor binding central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3) 10 GGCACTCTGTATCCTTCTCTG 0.458000 2 0 0 0 1 0 0 CACNA2D4 93589 broad.mit.edu 37 12 1953673 1953673 + Missense_Mutation SNP C C T TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr12:1953673C>T ENST00000382722.5 - 25 2727 c.2365G>A c.(2365-2367)Gag>Aag p.E789K CACNA2D4_ENST00000585732.1_Missense_Mutation_p.E650K|CACNA2D4_ENST00000539048.2_5'UTR|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.E725K|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.E789K|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.E764K|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.E725K NM_172364.4 NP_758952.4 Q7Z3S7 CA2D4_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 4 789 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 39 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451) ACGCTGGCCTCGTCCTCAGGT 0.577000 10 34 0 0 1 0 0 RLBP1 6017 broad.mit.edu 37 15 89761812 89761812 + Missense_Mutation SNP C C T rs142495448 byFrequency TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr15:89761812C>T ENST00000268125.5 - 4 564 c.125G>A c.(124-126)cGc>cAc p.R42H NM_000326.4 NP_000317.1 P12271 RLBP1_HUMAN retinaldehyde binding protein 1 42 response to stimulus|visual perception|vitamin A metabolic process cytoplasm|soluble fraction retinol binding|transporter activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(1)|prostate(1)|skin(1) 18 Lung NSC(78;0.0472)|all_lung(78;0.089) Vitamin A(DB00162) CAAGGTGTGGCGGGGCAGCTG 0.592000 27 58 0 0 1 0 0 ZNF649 65251 broad.mit.edu 37 19 52394762 52394762 + Silent SNP G G A TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr19:52394762G>A ENST00000354957.3 - 5 911 c.627C>T c.(625-627)agC>agT p.S209S ZNF649_ENST00000600738.1_Silent_p.S209S|CTC-429C10.2_ENST00000600329.1_RNA NM_023074.3 NP_075562.2 Q9BS31 ZN649_HUMAN zinc finger protein 649 209 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 29 all_neural(266;0.0602) GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185) TCCCACACAAGCTACACACGT 0.493000 7 117 0 0 1 0 0 ITGAM 3684 broad.mit.edu 37 16 31288244 31288244 + Missense_Mutation SNP G G A TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr16:31288244G>A ENST00000544665.3 + 11 1158 c.1087G>A c.(1087-1089)Ggc>Agc p.G363S ITGAM_ENST00000287497.8_Missense_Mutation_p.G363S NM_000632.3|NM_001145808.1 NP_000623.2|NP_001139280.1 P11215 ITAM_HUMAN integrin, alpha M (complement component 3 receptor 3 subunit) 363 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1) 56 TTCCCAGAATGGCCCCTTGCT 0.498000 10 11 0 0 1 0 0 SH3TC1 54436 broad.mit.edu 37 4 8235217 8235217 + Missense_Mutation SNP G G A TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr4:8235217G>A ENST00000539824.1 + 14 3405 c.3031G>A c.(3031-3033)Gag>Aag p.E1011K SH3TC1_ENST00000245105.3_Missense_Mutation_p.E1087K Q8TE82 S3TC1_HUMAN SH3 domain and tetratricopeptide repeats 1 1087 binding NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 GCGGCAGAGCGAGCTGGTGGA 0.522000 26 0 0 0 1 0 0 RNF213 57674 broad.mit.edu 37 17 78317761 78317761 + Silent SNP C C T TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr17:78317761C>T ENST00000582970.1 + 28 6431 c.6288C>T c.(6286-6288)atC>atT p.I2096I RNF213_ENST00000336301.6_Silent_p.I169I|RNF213_ENST00000508628.2_Silent_p.I2145I NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 0 p.I2145I(1)|p.I169I(1) NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) ATTTGTATATCGTTGAAATCC 0.493000 35 160 0 0 1 0 0 HECTD4 283450 broad.mit.edu 37 12 112616995 112616995 + Missense_Mutation SNP C C G TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr12:112616995C>G ENST00000550722.1 - 63 11151 c.10756G>C c.(10756-10758)Gag>Cag p.E3586Q HECTD4_ENST00000377560.5_Missense_Mutation_p.E3560Q|HECTD4_ENST00000430131.2_Missense_Mutation_p.E3310Q NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 AGCTGATCCTCCAGCACCTTT 0.607000 10 25 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237754216 237754216 + Missense_Mutation SNP G G A TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr1:237754216G>A ENST00000366574.2 + 31 4401 c.4084G>A c.(4084-4086)Gac>Aac p.D1362N RYR2_ENST00000542537.1_Missense_Mutation_p.D1346N|RYR2_ENST00000360064.6_Missense_Mutation_p.D1360N NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1362 4 X approximate repeats.|B30.2/SPRY 3. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TGTTGACAAAGACAAAGAAGC 0.423000 20 64 0 0 1 0 0 PCDHB18P 54660 broad.mit.edu 37 5 140615850 140615850 + RNA SNP T T A TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr5:140615850T>A ENST00000526308.1 + 0 1913 NR_001281.1 endometrium(9)|lung(7)|ovary(1)|urinary_tract(1) 18 TGCACCGAGCTGGTACCTCGG 0.692000 41 164 0 0 1 0 0 PPP2R2A 5520 broad.mit.edu 37 8 26218598 26218598 + Missense_Mutation SNP G G A TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr8:26218598G>A ENST00000380737.3 + 6 897 c.568G>A c.(568-570)Gaa>Aaa p.E190K PPP2R2A_ENST00000315985.7_Missense_Mutation_p.E200K NM_002717.3 NP_002708.1 protein phosphatase 2, regulatory subunit B, alpha kidney(1)|large_intestine(2)|ovary(1) 4 all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155) TAGTGATTATGAAACATATTT 0.358000 23 107 0 0 1 0 0 FAM193A 8603 broad.mit.edu 37 4 2661737 2661737 + Silent SNP G G A TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr4:2661737G>A ENST00000324666.5 + 8 1179 c.828G>A c.(826-828)caG>caA p.Q276Q FAM193A_ENST00000545951.1_Silent_p.Q276Q|FAM193A_ENST00000505311.1_Silent_p.Q276Q|FAM193A_ENST00000382839.3_Silent_p.Q276Q|FAM193A_ENST00000502458.1_Silent_p.Q300Q NM_001256666.1 NP_001243595.1 P78312 F193A_HUMAN family with sequence similarity 193, member A 276 NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 40 CAATTCAGCAGCACCCCAGGC 0.522000 16 30 0 0 1 0 0 EVPL 2125 broad.mit.edu 37 17 74003232 74003232 + Silent SNP G G A TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr17:74003232G>A ENST00000301607.3 - 22 6307 c.6054C>T c.(6052-6054)taC>taT p.Y2018Y EVPL_ENST00000586740.1_Silent_p.Y2040Y NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 2018 Globular 2. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 GGTAGCAGCGGTACCCCTCCA 0.682000 56 52 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13914697 13914697 + Missense_Mutation SNP C C T rs140388814 by1000genomes TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr5:13914697C>T ENST00000265104.4 - 10 1356 c.1252G>A c.(1252-1254)Gct>Act p.A418T NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 418 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CAGATGGAAGCGGTTCCATTA 0.353000 Kartagener syndrome 27 56 0 0 1 0 0 KIAA0368 23392 broad.mit.edu 37 9 114178593 114178593 + Missense_Mutation SNP C C T TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr9:114178593C>T ENST00000259335.4 - 19 2256 c.2257G>A c.(2257-2259)Ggg>Agg p.G753R KIAA0368_ENST00000338205.5_Missense_Mutation_p.G575R NM_001080398.1 NP_001073867.1 KIAA0368 NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 ACAGTGGTCCCGGTCATGTAC 0.388000 3 49 0 0 1 0 0 CFHR5 81494 broad.mit.edu 37 1 196967342 196967342 + Missense_Mutation SNP A A G TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr1:196967342A>G ENST00000367414.5 + 7 1183 c.1127A>G c.(1126-1128)aAt>aGt p.N376S CFHR5_ENST00000256785.4_Missense_Mutation_p.N352S NM_030787.3 NP_110414.1 Q9BXR6 FHR5_HUMAN complement factor H-related 5 352 Sushi 6. complement activation, alternative pathway extracellular region NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 49 TTTAATCATAATTCTAGAATA 0.338000 6 26 0 0 1 0 0 PMS2 5395 broad.mit.edu 37 7 6026490 6026490 + Missense_Mutation SNP C C T TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr7:6026490C>T ENST00000265849.7 - 11 2011 c.1906G>A c.(1906-1908)Gca>Aca p.A636T PMS2_ENST00000406569.3_Intron|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000382321.4_Intron|PMS2_ENST00000441476.2_Missense_Mutation_p.A530T NM_000535.5 NP_000526 P54278 PMS2_HUMAN PMS2 postmeiotic segregation increased 2 (S. cerevisiae) 636 mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes MutLalpha complex ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Ovarian(82;0.0694) UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15) CTTTGCTGTGCTTCATGATGT 0.388000 """Mis, N, F""" """colorectal, endometrial, ovarian, medulloblastoma, glioma""" Direct reversal of damage;Mismatch excision repair (MMR) Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 8 113 0 0 1 0 0 CHD5 26038 broad.mit.edu 37 1 6169989 6169989 + Missense_Mutation SNP G G A TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr1:6169989G>A ENST00000262450.3 - 38 5543 c.5444C>T c.(5443-5445)aCg>aTg p.T1815M CHD5_ENST00000378021.1_Missense_Mutation_p.T672M NM_015557.2 NP_056372.1 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 1815 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 16 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) GGGGTCCTGCGTCATGTTCAG 0.701000 67 40 0 0 1 0 0 BAP1 8314 broad.mit.edu 37 3 52439898 52439898 + Nonsense_Mutation SNP G G A TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr3:52439898G>A ENST00000460680.1 - 10 1285 c.814C>T c.(814-816)Cag>Tag p.Q272* BAP1_ENST00000296288.5_Nonsense_Mutation_p.Q254* NM_004656.2 NP_004647.1 Q92560 BAP1_HUMAN BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) 272 monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process cytoplasm|nucleolus|PR-DUB complex chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity p.I271fs*61(1) NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2) 180 BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277) TTGTGGGTCTGAATCAGCTCT 0.542000 """N, Mis, F, S, O""" """uveal melanoma, breast, NSCLC, RCC""" """mesothelioma, uveal melanoma""" 26 46 0 0 1 0 0 PTPRZ1 5803 broad.mit.edu 37 7 121651507 121651507 + Missense_Mutation SNP G G A TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr7:121651507G>A ENST00000393386.2 + 12 2818 c.2407G>A c.(2407-2409)Gtc>Atc p.V803I PTPRZ1_ENST00000483028.1_Intron|PTPRZ1_ENST00000449182.1_Intron NM_001206838.1|NM_002851.2 NP_001193767.1|NP_002842.2 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, Z polypeptide 1 803 central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 106 ATTTCCCAGTGTCGATGTGTC 0.468000 128 171 0 0 1 0 0 COX15 1355 broad.mit.edu 37 10 101489363 101489363 + Silent SNP G G T TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr10:101489363G>T ENST00000370483.5 - 2 269 c.219C>A c.(217-219)ctC>ctA p.L73L CUTC_ENST00000493385.1_Intron|COX15_ENST00000016171.5_Silent_p.L73L NM_004376.5|NM_078470.4 NP_004367.2|NP_510870.1 Q7KZN9 COX15_HUMAN cytochrome c oxidase assembly homolog 15 (yeast) 73 heme a biosynthetic process|respiratory chain complex IV assembly|respiratory gaseous exchange integral to membrane|mitochondrial respiratory chain cytochrome-c oxidase activity endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 13 Colorectal(252;0.234) Epithelial(162;3.08e-10)|all cancers(201;2.43e-08) TGCAGACCAGGAGCCATCGGC 0.512000 5 237 0.000602214 0.000605418 1 1 0 R3HDM2 22864 broad.mit.edu 37 12 57677620 57677620 + Missense_Mutation SNP C C G TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr12:57677620C>G ENST00000402412.1 - 13 1548 c.1158G>C c.(1156-1158)agG>agC p.R386S R3HDM2_ENST00000347140.3_Missense_Mutation_p.R372S|R3HDM2_ENST00000358907.2_Missense_Mutation_p.R372S|R3HDM2_ENST00000441731.2_Missense_Mutation_p.R33S|R3HDM2_ENST00000403821.2_Missense_Mutation_p.R372S|R3HDM2_ENST00000413953.2_Missense_Mutation_p.R99S|RP11-123K3.4_ENST00000548184.1_3'UTR Q9Y2K5 R3HD2_HUMAN R3H domain containing 2 372 nucleus nucleic acid binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 22 GCCTGGAGATCCTTCCCGCAC 0.488000 55 196 0 0 1 0 0 NDNF 79625 broad.mit.edu 37 4 121957684 121957684 + Missense_Mutation SNP T T G TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr4:121957684T>G ENST00000379692.4 - 4 1968 c.1442A>C c.(1441-1443)tAc>tCc p.Y481S NM_024574.3 NP_078850.3 Q8TB73 CD031_HUMAN neuron-derived neurotrophic factor 481 Fibronectin type-III 2. breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1) 29 TTCTTTTTTGTAGATGCAAAA 0.438000 58 41 0 0 1 0 0 TIAM2 26230 broad.mit.edu 37 6 155578045 155578045 + Missense_Mutation SNP C C G TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr6:155578045C>G ENST00000461783.3 + 29 6169 c.4896C>G c.(4894-4896)ttC>ttG p.F1632L TIAM2_ENST00000367174.2_Missense_Mutation_p.F1008L|TIAM2_ENST00000318981.5_Missense_Mutation_p.F1632L|TIAM2_ENST00000275246.7_Missense_Mutation_p.F557L|TIAM2_ENST00000360366.4_Missense_Mutation_p.F1656L|TIAM2_ENST00000456144.1_Missense_Mutation_p.F1661L|TIAM2_ENST00000528391.2_Missense_Mutation_p.F976L|TIAM2_ENST00000456877.2_Missense_Mutation_p.F944L|TIAM2_ENST00000529824.2_Missense_Mutation_p.F1661L Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 1632 apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 65 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) GGGGGCACTTCTGCCCCATTA 0.587000 14 21 0 0 1 0 0 TUBB8P7 197331 broad.mit.edu 37 16 90162579 90162579 + RNA SNP C C T TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr16:90162579C>T ENST00000564451.1 + 0 1932 TUBB8P7_ENST00000567960.1_RNA AGGAGTATGCCGAGGAGGAGG 0.512000 4 99 0 0 1 0 0 DHX35 60625 broad.mit.edu 37 20 37650573 37650573 + Missense_Mutation SNP C C A TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr20:37650573C>A ENST00000252011.3 + 16 1621 c.1588C>A c.(1588-1590)Cac>Aac p.H530N DHX35_ENST00000373323.4_Missense_Mutation_p.H499N|DHX35_ENST00000373325.2_Missense_Mutation_p.H530N NM_021931.3 NP_068750.2 Q9H5Z1 DHX35_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 35 530 catalytic step 2 spliceosome ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2) 40 Myeloproliferative disorder(115;0.00878) CCAGAAGTCTCACGCAGTAAG 0.473000 75 100 2.23399e-28 2.41271e-28 1 1 0 BDP1 55814 broad.mit.edu 37 5 70798507 70798507 + Missense_Mutation SNP G G C TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr5:70798507G>C ENST00000358731.4 + 15 2393 c.2130G>C c.(2128-2130)aaG>aaC p.K710N BDP1_ENST00000380675.2_5'UTR NM_018429.2 NP_060899.2 A6H8Y1 BDP1_HUMAN B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB 710 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) GATTGCAAAAGCCAAAGCCAA 0.403000 42 29 0 0 1 0 0 GSX2 170825 broad.mit.edu 37 4 54968055 54968055 + Nonsense_Mutation SNP C C G TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr4:54968055C>G ENST00000326902.2 + 2 1195 c.881C>G c.(880-882)tCa>tGa p.S294* GSX2_ENST00000548609.1_3'UTR|FIP1L1_ENST00000507166.1_Intron|GSX2_ENST00000503800.1_3'UTR NM_133267.2 NP_573574.1 Q9BZM3 GSX2_HUMAN GS homeobox 2 294 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(2)|lung(2) 6 all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147) LUSC - Lung squamous cell carcinoma(32;0.00216) TCGCCGGCCTCAGCCAACGAT 0.667000 10 33 0 0 1 0 0 UBXN6 80700 broad.mit.edu 37 19 4453475 4453475 + Missense_Mutation SNP C C T rs146778894 TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr19:4453475C>T ENST00000301281.6 - 3 416 c.292G>A c.(292-294)Gag>Aag p.E98K UBXN6_ENST00000394765.3_Missense_Mutation_p.E45K NM_025241.2 NP_079517.1 Q9BZV1 UBXN6_HUMAN UBX domain protein 6 98 microtubule organizing center|nucleus protein binding NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1) 12 CCTGGGGCCTCGGGGCTCCCG 0.622000 12 10 0 0 1 0 0 SLC5A5 6528 broad.mit.edu 37 19 17992962 17992962 + Silent SNP C C G TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr19:17992962C>G ENST00000222248.3 + 10 1523 c.1176C>G c.(1174-1176)ctC>ctG p.L392L NM_000453.2 NP_000444.1 Q92911 SC5A5_HUMAN solute carrier family 5 (sodium/iodide cotransporter), member 5 392 cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process integral to membrane|nucleus|plasma membrane iodide transmembrane transporter activity|sodium:iodide symporter activity NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3) 31 CTACAGCACTCATCTACGGAT 0.627000 16 43 0 0 1 0 0 LARP7 51574 broad.mit.edu 37 4 113568893 113568893 + Missense_Mutation SNP G G A TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr4:113568893G>A ENST00000509061.1 + 10 1369 c.1066G>A c.(1066-1068)Gat>Aat p.D356N LARP7_ENST00000344442.5_Missense_Mutation_p.D349N|MIR302B_ENST00000510655.1_RNA|MIR302B_ENST00000505215.1_RNA|LARP7_ENST00000324052.6_Missense_Mutation_p.D349N|MIR302B_ENST00000509938.1_RNA NM_001267039.1 NP_001253968.1 Q4G0J3 LARP7_HUMAN La ribonucleoprotein domain family, member 7 349 Lys-rich. RNA processing nucleoplasm|ribonucleoprotein complex nucleotide binding|RNA binding endometrium(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1) 17 Ovarian(17;0.0443)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000603) AGATCTAAAAGATAGCTCTCT 0.333000 11 18 0 0 1 0 0 LRRN3 54674 broad.mit.edu 37 7 110763690 110763690 + Missense_Mutation SNP G G C TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr7:110763690G>C ENST00000451085.1 + 4 1908 c.862G>C c.(862-864)Gag>Cag p.E288Q IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000331762.3_Intron|LRRN3_ENST00000422987.3_Missense_Mutation_p.E288Q|LRRN3_ENST00000308478.5_Missense_Mutation_p.E288Q|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000415362.1_Intron NM_001099660.1 NP_001093130.1 Q9H3W5 LRRN3_HUMAN leucine rich repeat neuronal 3 288 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 55 UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125) ACACTTAAAAGAGTTGGGGAT 0.333000 11 121 0 0 1 0 0 OR14C36 127066 broad.mit.edu 37 1 248512571 248512571 + Silent SNP C C T TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr1:248512571C>T ENST00000317861.1 + 1 495 c.495C>T c.(493-495)ccC>ccT p.P165P NM_001001918.1 NP_001001918.1 Q8NHC7 O14CZ_HUMAN olfactory receptor, family 14, subfamily C, member 36 165 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2) 43 TCCAGCTGCCCTTCTGTCGGT 0.502000 30 57 0 0 1 0 0 KRTAP4-9 100132386 broad.mit.edu 37 17 39262047 39262047 + Missense_Mutation SNP A A G TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr17:39262047A>G ENST00000391415.1 + 1 464 c.407A>G c.(406-408)aAg>aGg p.K136R NM_001146041.1 NP_001139513.1 Q9BYQ8 KRA49_HUMAN keratin associated protein 4-9 136 29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP]. keratin filament central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3) 14 agctgctgcaagccccagtgc 0.652000 4 60 0 0 1 0 0 FBP2 8789 broad.mit.edu 37 9 97355853 97355853 + Silent SNP G G A TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr9:97355853G>A ENST00000375337.3 - 1 222 c.156C>T c.(154-156)gcC>gcT p.A52A NM_003837.2 NP_003828.2 O00757 F16P2_HUMAN fructose-1,6-bisphosphatase 2 52 fructose metabolic process|gluconeogenesis cytosol fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|metal ion binding endometrium(1)|large_intestine(3)|lung(5) 9 Acute lymphoblastic leukemia(62;0.136) GGGCCAGACCGGCCTTGCGCA 0.637000 41 2 0 0 1 0 0 TGOLN2 10618 broad.mit.edu 37 2 85554728 85554728 + Missense_Mutation SNP G G A TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr2:85554728G>A ENST00000377386.3 - 2 589 c.127C>T c.(127-129)Cac>Tac p.H43Y TGOLN2_ENST00000409232.3_Missense_Mutation_p.H43Y|TGOLN2_ENST00000409015.1_Missense_Mutation_p.H43Y|TGOLN2_ENST00000444342.2_Missense_Mutation_p.H43Y|TGOLN2_ENST00000282120.2_Missense_Mutation_p.H43Y|TGOLN2_ENST00000398263.2_Missense_Mutation_p.H43Y O43493 TGON2_HUMAN trans-golgi network protein 2 43 integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle protein binding AAGCTGGGGTGGGTGGAGACG 0.587000 39 101 0 0 1 0 0 HLA-DQB2 3120 broad.mit.edu 37 6 32725559 32725559 + Missense_Mutation SNP C C T rs113761247 byFrequency TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr6:32725559C>T ENST00000435145.2 - 4 809 c.748G>A c.(748-750)Ggt>Agt p.G250S HLA-DQB2_ENST00000411527.1_Intron|HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.G250S Q5SR06 Q5SR06_HUMAN major histocompatibility complex, class II, DQ beta 2 216 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response integral to membrane|MHC class II protein complex endometrium(1)|kidney(1)|lung(1)|prostate(2) 5 CCTTTCTGACCCCTGTGACGG 0.552000 3 13 0 0 1 0 0 FAM47B 170062 broad.mit.edu 37 X 34961690 34961690 + Missense_Mutation SNP C C T TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chrX:34961690C>T ENST00000329357.5 + 1 778 c.742C>T c.(742-744)Cgc>Tgc p.R248C NM_152631.2 NP_689844.2 Q8NA70 FA47B_HUMAN family with sequence similarity 47, member B 248 Pro-rich. p.R248C(1) breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 71 ATCTCATCTCCGCGTGGATCC 0.632000 88 2 0 0 1 0 0 PTCHD3P1 387647 broad.mit.edu 37 10 29710597 29710597 + RNA SNP G G A TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr10:29710597G>A ENST00000427063.2 + 0 1321 PTCHD3P1_ENST00000438202.1_RNA|PTCHD3P1_ENST00000537908.1_RNA|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000455774.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000430295.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000445521.1_RNA NR_003930.1 GTCCTCTGAAGAAGCTGGTCA 0.562000 4 14 0 0 1 0 0 GSX2 170825 broad.mit.edu 37 4 54967816 54967816 + Silent SNP C C G TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr4:54967816C>G ENST00000326902.2 + 2 956 c.642C>G c.(640-642)ctC>ctG p.L214L GSX2_ENST00000548609.1_3'UTR|FIP1L1_ENST00000507166.1_Intron|GSX2_ENST00000503800.1_3'UTR NM_133267.2 NP_573574.1 Q9BZM3 GSX2_HUMAN GS homeobox 2 214 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(2)|lung(2) 6 all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147) LUSC - Lung squamous cell carcinoma(32;0.00216) GCACGCAACTCCTGGAGCTGG 0.552000 33 102 0 0 1 0 0 ZP3 7784 broad.mit.edu 37 7 76062891 76062891 + Missense_Mutation SNP G G A TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr7:76062891G>A ENST00000416245.1 + 3 1205 c.112G>A c.(112-114)Gtg>Atg p.V38M ZP3_ENST00000336517.4_Missense_Mutation_p.V163M|ZP3_ENST00000394857.3_Missense_Mutation_p.V214M P21754 ZP3_HUMAN zona pellucida glycoprotein 3 (sperm receptor) 214 binding of sperm to zona pellucida|blastocyst formation|egg coat formation|humoral immune response mediated by circulating immunoglobulin|intracellular protein transport|negative regulation of binding of sperm to zona pellucida|negative regulation of transcription, DNA-dependent|oocyte development|phosphatidylinositol-mediated signaling|positive regulation of acrosomal vesicle exocytosis|positive regulation of acrosome reaction|positive regulation of antral ovarian follicle growth|positive regulation of calcium ion import|positive regulation of calcium ion transport via store-operated calcium channel activity|positive regulation of humoral immune response|positive regulation of interferon-gamma production|positive regulation of interleukin-4 production|positive regulation of leukocyte migration|positive regulation of ovarian follicle development|positive regulation of phosphatidylinositol biosynthetic process|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of T cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of type IV hypersensitivity|protein kinase C signaling cascade endoplasmic reticulum|extracellular space|Golgi apparatus|integral to membrane|multivesicular body|outer acrosomal membrane|perinuclear region of cytoplasm|plasma membrane|proteinaceous extracellular matrix acrosin binding|manganese ion transmembrane transporter activity|receptor activity|sugar binding endometrium(1)|large_intestine(3)|lung(2)|skin(1) 7 GCGGTTGTTTGTGGACCACTG 0.607000 68 141 0 0 1 0 0 HCN4 10021 broad.mit.edu 37 15 73617727 73617727 + Missense_Mutation SNP C C T TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr15:73617727C>T ENST00000261917.3 - 5 2642 c.1649G>A c.(1648-1650)cGc>cAc p.R550H NM_005477.2 NP_005468.1 Q9Y3Q4 HCN4_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 4 550 blood circulation|muscle contraction integral to membrane cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 55 COAD - Colon adenocarcinoma(1;0.142) GTCGTGGATGCGCTGCCGGGT 0.642000 4 196 0 0 1 0 0 FGFR2 2263 broad.mit.edu 37 10 123274768 123274768 + Missense_Mutation SNP C C G TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr10:123274768C>G ENST00000358487.5 - 9 1422 c.1150G>C c.(1150-1152)Ggg>Cgg p.G384R FGFR2_ENST00000369059.1_Missense_Mutation_p.G270R|FGFR2_ENST00000369056.1_Missense_Mutation_p.G385R|FGFR2_ENST00000478859.1_Missense_Mutation_p.G156R|FGFR2_ENST00000351936.6_Missense_Mutation_p.G384R|FGFR2_ENST00000369061.4_Missense_Mutation_p.G272R|FGFR2_ENST00000346997.2_Missense_Mutation_p.G384R|FGFR2_ENST00000457416.2_Missense_Mutation_p.G385R|FGFR2_ENST00000369060.4_Intron|FGFR2_ENST00000360144.3_Missense_Mutation_p.G296R|FGFR2_ENST00000357555.5_Missense_Mutation_p.G295R|FGFR2_ENST00000356226.4_Missense_Mutation_p.G269R NM_000141.4 NP_000132.3 P21802 FGFR2_HUMAN fibroblast growth factor receptor 2 384 G -> R (in CS). angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2) 181 Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107) STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722) all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845) Palifermin(DB00039) AAGAAGACCCCTATGCAGTAA 0.502000 5 Mis """gastric. NSCLC, endometrial""" """Crouzon, Pfeiffer, and Apert syndromes""" Saethre-Chotzen syndrome;Apert syndrome 7 108 0 0 1 0 0 FUT7 2529 broad.mit.edu 37 9 139925890 139925890 + Missense_Mutation SNP G G A TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr9:139925890G>A ENST00000314412.6 - 2 1319 c.301C>T c.(301-303)Cgg>Tgg p.R101W C9orf139_ENST00000314330.2_Intron NM_004479.3 NP_004470.1 Q11130 FUT7_HUMAN fucosyltransferase 7 (alpha (1,3) fucosyltransferase) 101 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity NS(1)|endometrium(1)|lung(4)|ovary(1)|skin(1) 8 all_cancers(76;0.0893) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486) TGGGACCGCCGGGTCTGCAGC 0.731000 5 1 0 0 1 0 0 ABCC12 94160 broad.mit.edu 37 16 48175149 48175149 + Missense_Mutation SNP T T G TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr16:48175149T>G ENST00000311303.3 - 3 736 c.391A>C c.(391-393)Atc>Ctc p.I131L ABCC12_ENST00000448542.1_Missense_Mutation_p.I131L|ABCC12_ENST00000416054.1_Missense_Mutation_p.I131L NM_033226.2 NP_150229.2 Q96J65 MRP9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 12 131 ABC transmembrane type-1 1. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1) 90 all_cancers(37;0.0474)|all_lung(18;0.047) ATGCACAGGATGTTGGCCACG 0.557000 17 26 0 0 1 0 0 CREBBP 1387 broad.mit.edu 37 16 3781305 3781305 + Missense_Mutation SNP G G A TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr16:3781305G>A ENST00000262367.5 - 30 5869 c.5060C>T c.(5059-5061)tCc>tTc p.S1687F CREBBP_ENST00000382070.3_Missense_Mutation_p.S1649F NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 1687 Interaction with TRERF1. cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) GCAGAGCGTGGACCACTTGGA 0.642000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 8 14 0 0 1 0 0 MICALL2 79778 broad.mit.edu 37 7 1478593 1478593 + Missense_Mutation SNP C C T TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr7:1478593C>T ENST00000297508.7 - 10 2180 c.2005G>A c.(2005-2007)Gtc>Atc p.V669I MICALL2_ENST00000471899.1_5'UTR|MICALL2_ENST00000405088.4_Missense_Mutation_p.V457I NM_182924.3 NP_891554.1 Q8IY33 MILK2_HUMAN MICAL-like 2 669 cytoplasm|cytoskeleton zinc ion binding breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2) 19 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15) CTGGCAGGGACGGCCAGTCTC 0.682000 15 38 0 0 1 0 0 LOC101927958 101927958 broad.mit.edu 37 2 239141463 239141463 + RNA SNP G G C TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr2:239141463G>C ENST00000456601.1 + 0 906 CCAGGCCTTCGGTTCTGGAAA 0.522000 20 15 0 0 1 0 0 TPO 7173 broad.mit.edu 37 2 1499950 1499950 + Nonsense_Mutation SNP G G A TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr2:1499950G>A ENST00000345913.4 + 12 2287 c.2196G>A c.(2194-2196)tgG>tgA p.W732* TPO_ENST00000346956.3_Nonsense_Mutation_p.W732*|TPO_ENST00000382198.1_Nonsense_Mutation_p.W559*|TPO_ENST00000349624.3_Nonsense_Mutation_p.W559*|TPO_ENST00000329066.4_Nonsense_Mutation_p.W732*|TPO_ENST00000382201.3_Nonsense_Mutation_p.W675*|TPO_ENST00000497517.2_Intron|TPO_ENST00000337415.3_Nonsense_Mutation_p.W732* NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase 732 W -> C (in Ref. 7; AAN11302). cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) TGGAGGCCTGGAGGGAAACCT 0.527000 6 28 0 0 1 0 0 CNTLN 54875 broad.mit.edu 37 9 17466740 17466740 + Missense_Mutation SNP G G A TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr9:17466740G>A ENST00000380647.3 + 23 3790 c.3706G>A c.(3706-3708)Gag>Aag p.E1236K CNTLN_ENST00000262360.5_Missense_Mutation_p.E1236K|CNTLN_ENST00000425824.1_Missense_Mutation_p.E1236K Q9NXG0 CNTLN_HUMAN centlein, centrosomal protein 1236 centriole|membrane two-component sensor activity breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 GBM - Glioblastoma multiforme(50;6.14e-10) AAGAATAAGTGAGACTGAATC 0.368000 38 2 0 0 1 0 0 METTL6 131965 broad.mit.edu 37 3 15467891 15467891 + Missense_Mutation SNP T T C TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr3:15467891T>C ENST00000443029.1 - 2 368 c.128A>G c.(127-129)aAa>aGa p.K43R METTL6_ENST00000450816.2_Missense_Mutation_p.K43R|METTL6_ENST00000383789.5_Missense_Mutation_p.K43R|METTL6_ENST00000383790.3_Missense_Mutation_p.K43R Q8TCB7 METL6_HUMAN methyltransferase like 6 43 methyltransferase activity endometrium(1)|kidney(1)|large_intestine(9)|lung(3)|prostate(1) 15 ATCCCAATTTTTCTGAGCCTC 0.393000 22 124 0 0 1 0 0 SLCO1A2 6579 broad.mit.edu 37 12 21445142 21445142 + Silent SNP G G A TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr12:21445142G>A ENST00000307378.6 - 13 2286 c.1566C>T c.(1564-1566)ttC>ttT p.F522F SLCO1A2_ENST00000390670.3_Silent_p.F520F|SLCO1A2_ENST00000458504.1_Silent_p.F390F|SLCO1A2_ENST00000452078.1_Silent_p.F522F|SLCO1A2_ENST00000537524.1_Silent_p.F390F NM_134431.3 NP_602307.1 P46721 SO1A2_HUMAN solute carrier organic anion transporter family, member 1A2 522 bile acid metabolic process|sodium-independent organic anion transport integral to membrane|plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1) 48 AAGAATAAATGAAACTGCTCA 0.383000 33 12 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168107930 168107930 + Missense_Mutation SNP G G A TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr2:168107930G>A ENST00000409195.1 + 9 10117 c.10028G>A c.(10027-10029)gGc>gAc p.G3343D XIRP2_ENST00000295237.9_Missense_Mutation_p.G3343D|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.G3121D|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 3168 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 TTTGAGCATGGCCCAGTTTCT 0.383000 5 100 0 0 1 0 0 ANKRD17 26057 broad.mit.edu 37 4 73957450 73957450 + Missense_Mutation SNP T T G TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr4:73957450T>G ENST00000358602.4 - 29 6011 c.5895A>C c.(5893-5895)ttA>ttC p.L1965F ANKRD17_ENST00000330838.6_Missense_Mutation_p.L1714F|ANKRD17_ENST00000509867.2_Missense_Mutation_p.L1852F NM_032217.3 NP_115593.3 O75179 ANR17_HUMAN ankyrin repeat domain 17 1965 Ser-rich. interspecies interaction between organisms cytoplasm|nucleus RNA binding NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3) 96 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) GGCTTGAAGTTAAAGAACCTG 0.493000 71 285 0 0 1 0 0 FGF14 2259 broad.mit.edu 37 13 102375303 102375303 + Missense_Mutation SNP C C T TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr13:102375303C>T ENST00000376131.4 - 5 732 c.637G>A c.(637-639)Gaa>Aaa p.E213K ITGBL1_ENST00000415285.1_3'UTR|FGF14_ENST00000376143.4_Missense_Mutation_p.E208K NM_175929.2 NP_787125.1 Q92915 FGF14_HUMAN fibroblast growth factor 14 208 cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction nucleus growth factor activity|heparin binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2) 29 all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) AAAGATGGTTCTCGGTACATG 0.488000 6 229 0 0 1 0 0 PTK2 5747 broad.mit.edu 37 8 141745510 141745510 + Missense_Mutation SNP G G C TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr8:141745510G>C ENST00000522684.1 - 22 2099 c.1870C>G c.(1870-1872)Caa>Gaa p.Q624E PTK2_ENST00000535192.1_Missense_Mutation_p.Q624E|PTK2_ENST00000395218.2_Missense_Mutation_p.Q624E|PTK2_ENST00000519465.1_Missense_Mutation_p.Q252E|PTK2_ENST00000521059.1_Missense_Mutation_p.Q624E|PTK2_ENST00000538769.1_Missense_Mutation_p.Q292E|PTK2_ENST00000517887.1_Missense_Mutation_p.Q668E|PTK2_ENST00000519419.1_Missense_Mutation_p.Q668E|PTK2_ENST00000340930.3_Missense_Mutation_p.Q624E NM_153831.3 NP_722560.1 Q05397 FAK1_HUMAN protein tyrosine kinase 2 624 Protein kinase. axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly cytoskeleton|cytosol|focal adhesion ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 48 all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;2.72e-05)|Breast(495;0.159) BRCA - Breast invasive adenocarcinoma(115;0.137) TTCACTCCTTGAAAAGGCTTC 0.433000 13 155 0 0 1 0 0 NELL2 4753 broad.mit.edu 37 12 44913946 44913946 + Missense_Mutation SNP C C G TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr12:44913946C>G ENST00000429094.2 - 19 2746 c.2242G>C c.(2242-2244)Gag>Cag p.E748Q NELL2_ENST00000452445.2_Missense_Mutation_p.E748Q|NELL2_ENST00000333837.4_Missense_Mutation_p.E771Q|NELL2_ENST00000551601.1_Missense_Mutation_p.E700Q|NELL2_ENST00000437801.2_Missense_Mutation_p.E798Q|NELL2_ENST00000395487.2_Missense_Mutation_p.E747Q|NELL2_ENST00000549027.1_Missense_Mutation_p.E747Q NM_001145108.1 NP_001138580.1 Q99435 NELL2_HUMAN NEL-like 2 (chicken) 748 VWFC 4. cell adhesion extracellular region calcium ion binding|protein binding|structural molecule activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 Lung SC(27;0.192) Lung NSC(34;0.144) GBM - Glioblastoma multiforme(48;0.092) CACTCATTCTCTGGGAGAATG 0.542000 21 37 0 0 1 0 0 HIST2H2BF 440689 broad.mit.edu 37 1 149783875 149783875 + Missense_Mutation SNP G G A TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr1:149783875G>A ENST00000427880.2 - 1 50 c.4C>T c.(4-6)Ccg>Tcg p.P2S HIST2H2BF_ENST00000469483.1_5'UTR|HIST2H2BF_ENST00000545683.1_Missense_Mutation_p.P2S|HIST2H2BF_ENST00000369167.1_Missense_Mutation_p.P2S Q5QNW6 H2B2F_HUMAN histone cluster 2, H2bf 2 nucleosome assembly nucleosome|nucleus DNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Breast(34;0.0124)|all_hematologic(923;0.127) GCTGGATCCGGCATTTTTGCG 0.498000 4 137 0 0 1 0 0 CDC27 996 broad.mit.edu 37 17 45219284 45219284 + Missense_Mutation SNP A A G TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr17:45219284A>G ENST00000066544.3 - 12 1579 c.1486T>C c.(1486-1488)Tac>Cac p.Y496H CDC27_ENST00000531206.1_Missense_Mutation_p.Y502H|CDC27_ENST00000446365.2_Missense_Mutation_p.Y435H|CDC27_ENST00000527547.1_Missense_Mutation_p.Y495H NM_001114091.1|NM_001256.3 NP_001107563.1|NP_001247.3 P30260 CDC27_HUMAN cell division cycle 27 496 Y -> H (in dbSNP:rs13666). anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 CCAGTATTGTAGTGGTGAGAA 0.378000 6 227 0 0 1 0 0 STAT3 6774 broad.mit.edu 37 17 40491346 40491346 + Missense_Mutation SNP G G A TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr17:40491346G>A ENST00000264657.5 - 5 766 c.454C>T c.(454-456)Cgg>Tgg p.R152W STAT3_ENST00000588969.1_Missense_Mutation_p.R152W|STAT3_ENST00000404395.3_Missense_Mutation_p.R152W|STAT3_ENST00000389272.3_Missense_Mutation_p.R54W|STAT3_ENST00000585517.1_Missense_Mutation_p.R152W NM_003150.3|NM_139276.2 NP_003141.2|NP_644805.1 P40763 STAT3_HUMAN signal transducer and activator of transcription 3 (acute-phase response factor) 152 cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis cytosol|nucleus|plasma membrane calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135) BRCA - Breast invasive adenocarcinoma(366;0.139) ACTCTCTTCCGGACATCCTGA 0.532000 Hyperimmunoglobulin E Recurrent Infection Syndrome 67 79 0 0 1 0 0 LRP3 4037 broad.mit.edu 37 19 33698341 33698341 + Missense_Mutation SNP G G A TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr19:33698341G>A ENST00000253193.7 + 7 2375 c.2173G>A c.(2173-2175)Gac>Aac p.D725N CTD-2540B15.13_ENST00000609744.1_RNA NM_002333.3 NP_002324.2 O75074 LRP3_HUMAN low density lipoprotein receptor-related protein 3 725 receptor-mediated endocytosis coated pit|integral to membrane receptor activity breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2) 15 Esophageal squamous(110;0.137) CTCAGCCCAGGACCCGCACCC 0.692000 4 11 0 0 1 0 0 CEP170B 283638 broad.mit.edu 37 14 105353391 105353391 + Missense_Mutation SNP G G A TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr14:105353391G>A ENST00000453495.1 + 12 3046 c.2818G>A c.(2818-2820)Ggg>Agg p.G940R CEP170B_ENST00000418279.1_Missense_Mutation_p.G869R|CEP170B_ENST00000414716.3_Missense_Mutation_p.G939R|CEP170B_ENST00000556508.1_Missense_Mutation_p.G869R centrosomal protein 170B CGAGTGTGAGGGGGGCAGCAC 0.682000 105 4 0 0 1 0 0 CNST 163882 broad.mit.edu 37 1 246795198 246795198 + Missense_Mutation SNP A A G TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr1:246795198A>G ENST00000366513.4 + 4 857 c.588A>G c.(586-588)atA>atG p.I196M CNST_ENST00000366512.3_Missense_Mutation_p.I196M|CNST_ENST00000483271.1_3'UTR NM_152609.2 NP_689822.2 Q6PJW8 CNST_HUMAN consortin, connexin sorting protein 196 positive regulation of Golgi to plasma membrane protein transport integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle connexin binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2) 28 TTTAACAGATAGCAGAATCCT 0.274000 57 26 0 0 1 0 0 KPRP 448834 broad.mit.edu 37 1 152733220 152733220 + Missense_Mutation SNP C C T TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr1:152733220C>T ENST00000368773.1 + 2 1214 c.1156C>T c.(1156-1158)Cgg>Tgg p.R386W KPRP_ENST00000606109.1_Missense_Mutation_p.R386W NM_001025231.1 NP_001020402.1 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 386 Pro-rich. cytoplasm NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CTGTCCACCACGGCGTCTTGA 0.642000 5 84 0 0 1 0 0 VIL1 7429 broad.mit.edu 37 2 219292738 219292738 + Missense_Mutation SNP C C T TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr2:219292738C>T ENST00000248444.5 + 5 486 c.398C>T c.(397-399)tCc>tTc p.S133F VIL1_ENST00000392114.2_Intron|VIL1_ENST00000440053.1_Missense_Mutation_p.S133F NM_007127.2 NP_009058.2 P09327 VILI_HUMAN villin 1 133 Core. actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Renal(207;0.0474) Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GAGACCAACTCCTATGACGTC 0.617000 6 149 0 0 1 0 0 MCM3AP 8888 broad.mit.edu 37 21 47690462 47690462 + Silent SNP G G A TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr21:47690462G>A ENST00000397708.1 - 10 2735 c.2481C>T c.(2479-2481)ttC>ttT p.F827F MCM3AP_ENST00000291688.1_Silent_p.F827F O60318 MCM3A_HUMAN minichromosome maintenance complex component 3 associated protein 827 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 72 Breast(49;0.112) CAGCAGGATGGAACTGTTGTA 0.328000 28 73 0 0 1 0 0 SMTNL1 219537 broad.mit.edu 37 11 57314091 57314091 + Silent SNP C C A TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr11:57314091C>A ENST00000457912.1 + 7 1360 c.1360C>A c.(1360-1362)Cgg>Agg p.R454R SMTNL1_ENST00000527972.1_Silent_p.R436R|SMTNL1_ENST00000399154.2_Silent_p.R399R E9PPJ3 E9PPJ3_HUMAN smoothelin-like 1 436 endometrium(2)|large_intestine(1)|lung(4)|ovary(1) 8 CGCAAAGCGCCGGCACAACTT 0.597000 23 29 1.9806e-07 2.01254e-07 1 1 0 TRIM51 84767 broad.mit.edu 37 11 55655616 55655616 + Missense_Mutation SNP G G A TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr11:55655616G>A ENST00000449290.2 + 4 708 c.616G>A c.(616-618)Gag>Aag p.E206K TRIM51_ENST00000244891.3_Missense_Mutation_p.E63K NM_032681.3 NP_116070.2 Q9BSJ1 SPRY5_HUMAN tripartite motif-containing 51 206 intracellular zinc ion binding AAAGGAGGGCGAGGACATTTT 0.428000 7 92 0 0 1 0 0 HIST1H3D 8351 broad.mit.edu 37 6 26197305 26197305 + Silent SNP C C G TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr6:26197305C>G ENST00000377831.5 - 2 627 c.174G>C c.(172-174)tcG>tcC p.S58S HIST1H3D_ENST00000356476.2_Silent_p.S58S NM_003530.3 NP_003521.2 P68431 H31_HUMAN histone cluster 1, H3d 58 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6) 14 all_hematologic(11;0.196) GCAGCTCGGTCGACTTCTGGT 0.627000 8 80 0 0 1 0 0 SLC30A4 7782 broad.mit.edu 37 15 45814527 45814527 + Missense_Mutation SNP C C G TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr15:45814527C>G ENST00000261867.4 - 2 340 c.26G>C c.(25-27)cGc>cCc p.R9P HMGN2P46_ENST00000409454.1_RNA NM_013309.4 NP_037441.2 O14863 ZNT4_HUMAN solute carrier family 30 (zinc transporter), member 4 9 regulation of sequestering of zinc ion|response to toxin endosome membrane|integral to membrane|late endosome zinc ion transmembrane transporter activity endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1) 15 Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06) AGATTTGAGGCGCTTCCACGC 0.652000 15 37 0 0 1 0 0 MYOM1 8736 broad.mit.edu 37 18 3100157 3100157 + Splice_Site SNP T T G TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr18:3100157T>G ENST00000356443.4 - 25 4060 c.3727A>C c.(3727-3729)Act>Cct p.T1243P MYOM1_ENST00000261606.7_Splice_Site_p.T1147P|MYOM1_ENST00000400569.3_Splice_Site_p.T1243P NM_003803.3|NM_019856.1 NP_003794.3|NP_062830.1 P52179 MYOM1_HUMAN myomesin 1 1243 striated muscle myosin thick filament structural constituent of muscle NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 GGATACTTACTTGGGAACTTG 0.388000 19 29 0 0 1 0 0 APBA2 321 broad.mit.edu 37 15 29346936 29346936 + Silent SNP G G A TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr15:29346936G>A ENST00000558402.1 + 5 1448 c.849G>A c.(847-849)tcG>tcA p.S283S APBA2_ENST00000558330.1_Silent_p.S283S|APBA2_ENST00000411764.1_Silent_p.S283S|APBA2_ENST00000561069.1_Silent_p.S283S|APBA2_ENST00000558259.1_Silent_p.S283S Q99767 APBA2_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 2 283 nervous system development|protein transport protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1) 59 all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234) all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24) GGCCCAAGTCGCTGAACCTCC 0.672000 7 34 0 0 1 0 0 SNRNP35 11066 broad.mit.edu 37 12 123950433 123950433 + Missense_Mutation SNP G G T TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr12:123950433G>T ENST00000526639.2 + 2 925 c.346G>T c.(346-348)Gtt>Ttt p.V116F SNRNP35_ENST00000350887.5_Missense_Mutation_p.V116F|SNRNP35_ENST00000412157.2_Missense_Mutation_p.V121F|SNRNP35_ENST00000527158.2_Intron NM_022717.3 NP_073208.1 Q16560 U1SBP_HUMAN small nuclear ribonucleoprotein 35kDa (U11/U12) 116 RRM. mRNA processing U12-type spliceosomal complex nucleotide binding|RNA binding NS(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1) 8 TGATGGCCTGGTTATTGACCA 0.522000 43 111 1.91236e-09 1.98591e-09 1 1 0 SHROOM2 357 broad.mit.edu 37 X 9905313 9905313 + Missense_Mutation SNP G G A TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chrX:9905313G>A ENST00000380913.3 + 7 3817 c.3727G>A c.(3727-3729)Gag>Aag p.E1243K SHROOM2_ENST00000418909.2_Missense_Mutation_p.E78K NM_001649.2 NP_001640.1 Q13796 SHRM2_HUMAN shroom family member 2 1243 apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization apical plasma membrane|cell-cell adherens junction|microtubule|tight junction actin filament binding|beta-catenin binding|ligand-gated sodium channel activity breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 57 Hepatocellular(5;0.000888) CCACGGGCTGGAGAAAGACCA 0.647000 19 2 0 0 1 0 0 FRG1B 284802 broad.mit.edu 37 20 29623207 29623207 + Missense_Mutation SNP A A C TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr20:29623207A>C ENST00000278882.3 + 3 399 c.19A>C c.(19-21)Atg>Ctg p.M7L FRG1B_ENST00000358464.4_Missense_Mutation_p.M7L|FRG1B_ENST00000439954.2_Missense_Mutation_p.H8P endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ACCTATATACATGCACTCGAC 0.388000 13 785 0 0 1 0 0 HSD17B2 3294 broad.mit.edu 37 16 82131831 82131831 + Silent SNP C C T TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr16:82131831C>T ENST00000199936.4 + 5 1147 c.954C>T c.(952-954)ttC>ttT p.F318F RP11-510J16.5_ENST00000567021.1_RNA NM_002153.2 NP_002144.1 P37059 DHB2_HUMAN hydroxysteroid (17-beta) dehydrogenase 2 318 response to retinoic acid|steroid biosynthetic process endoplasmic reticulum membrane|integral to membrane 17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1) 10 NADH(DB00157) GCAAGGACTTCTCTCCGGTGC 0.542000 36 35 0 0 1 0 0 TLR8 51311 broad.mit.edu 37 X 12937240 12937240 + Missense_Mutation SNP A A C TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chrX:12937240A>C ENST00000218032.6 + 2 168 c.81A>C c.(79-81)gaA>gaC p.E27D TLR8_ENST00000311912.5_Missense_Mutation_p.E45D NM_138636.4 NP_619542.1 Q9NR97 TLR8_HUMAN toll-like receptor 8 27 cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process endosome membrane DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 TATGCGCCGAAGAAAATTTTT 0.418000 10 90 0 0 1 0 0 NODAL 4838 broad.mit.edu 37 10 72192792 72192792 + Missense_Mutation SNP G G C TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr10:72192792G>C ENST00000287139.3 - 3 943 c.944C>G c.(943-945)cCa>cGa p.P315R NM_018055.4 NP_060525.3 Q96S42 NODAL_HUMAN nodal growth differentiation factor 315 growth extracellular space cytokine activity|growth factor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2) 15 GGTCTTCACTGGGGCACAACA 0.512000 12 156 0 0 1 0 0 PLEKHG4B 153478 broad.mit.edu 37 5 143249 143249 + Missense_Mutation SNP G G A rs115149634 byFrequency TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr5:143249G>A ENST00000283426.6 + 2 547 c.497G>A c.(496-498)cGg>cAg p.R166Q NM_052909.3 NP_443141.3 Q96PX9 PKH4B_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 4B 166 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3) 11 all cancers(22;0.0253)|Lung(60;0.113) Kidney(1;0.119) GTGCCTGCCCGGCAGCCACAC 0.647000 4 177 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168103929 168103929 + Silent SNP A A G TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr2:168103929A>G ENST00000409195.1 + 9 6116 c.6027A>G c.(6025-6027)ttA>ttG p.L2009L XIRP2_ENST00000295237.9_Silent_p.L2009L|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Silent_p.L1787L|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 1834 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 ATGGCAATTTAGTAGAAGAAA 0.458000 3 39 0 0 1 0 0 PCDHA3 56145 broad.mit.edu 37 5 140180995 140180995 + Missense_Mutation SNP C C A rs138112183 TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr5:140180995C>A ENST00000522353.2 + 1 213 c.213C>A c.(211-213)caC>caA p.H71Q PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.H71Q NM_018906.2 NP_061729.1 NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCAAAAGACACGGGGACCTTC 0.627000 179 109 2.5812e-89 2.83632e-89 1 1 0 TP53 7157 broad.mit.edu 37 17 7577121 7577121 + Missense_Mutation SNP G G A rs121913343 TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr17:7577121G>A ENST00000420246.2 - 8 949 c.817C>T c.(817-819)Cgt>Tgt p.R273C TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 273 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GCACAAACACGCACCTCAAAG 0.542000 R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID) 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 39 3 0 0 1 0 0 MTMR6 9107 broad.mit.edu 37 13 25841970 25841970 + Missense_Mutation SNP C C G TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr13:25841970C>G ENST00000381801.5 - 3 1012 c.251G>C c.(250-252)aGa>aCa p.R84T MTMR6_ENST00000540661.1_Missense_Mutation_p.R84T NM_004685.3 NP_004676.3 Q9Y217 MTMR6_HUMAN myotubularin related protein 6 84 cytoplasm|nuclear envelope calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3) 36 Lung SC(185;0.0225)|Breast(139;0.0351) all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164) ATCTCTTTCTCTGGGAACAAT 0.403000 4 105 0 0 1 0 0 LAMA5 3911 broad.mit.edu 37 20 60902023 60902023 + Splice_Site SNP C C T TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr20:60902023C>T ENST00000252999.3 - 39 5179 c.e39-1 NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AGGATGACACCTGGAGGCAGG 0.632000 27 102 0 0 1 0 0 PSMC2 5701 broad.mit.edu 37 7 103004746 103004746 + Missense_Mutation SNP G G A TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr7:103004746G>A ENST00000435765.1 + 9 1159 c.748G>A c.(748-750)Gtc>Atc p.V250I SLC26A5_ENST00000356767.4_Intron|PSMC2_ENST00000544811.1_Missense_Mutation_p.V113I|PSMC2_ENST00000292644.3_Missense_Mutation_p.V250I|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000339444.6_Intron NM_002803.3 NP_002794.1 P35998 PRS7_HUMAN proteasome (prosome, macropain) 26S subunit, ATPase, 2 250 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction mitochondrion|nucleus|proteasome complex ATP binding|ATPase activity|protein binding breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 21 ACAGAAATACGTCGGTGAGGT 0.418000 39 115 0 0 1 0 0 SNAP47 116841 broad.mit.edu 37 1 227947044 227947044 + Silent SNP G G A TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr1:227947044G>A ENST00000366759.4 + 3 1395 c.981G>A c.(979-981)ttG>ttA p.L327L SNAP47_ENST00000315781.5_Silent_p.L327L|SNAP47_ENST00000366760.1_Silent_p.L85L NM_053052.3 NP_444280.2 Q5SQN1 SNP47_HUMAN synaptosomal-associated protein, 47kDa 327 endomembrane system|membrane|perinuclear region of cytoplasm endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 17 CCTATCGTTTGATATCTGCCA 0.468000 45 112 0 0 1 0 0 CTC1 80169 broad.mit.edu 37 17 8137937 8137937 + Silent SNP G G A TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr17:8137937G>A ENST00000315684.8 - 10 1661 c.1654C>T c.(1654-1656)Ctg>Ttg p.L552L NM_025099.5 NP_079375.3 Q2NKJ3 CTC1_HUMAN CTS telomere maintenance complex component 1 552 positive regulation of DNA replication|telomere maintenance Stn1-Ten1 complex protein binding|single-stranded DNA binding NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4) 29 AGGGTGGCCAGAGTGGGGAAG 0.617000 5 27 0 0 1 0 0 PYHIN1 149628 broad.mit.edu 37 1 158943534 158943534 + Missense_Mutation SNP A A G TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr1:158943534A>G ENST00000368140.1 + 8 1702 c.1457A>G c.(1456-1458)aAc>aGc p.N486S PYHIN1_ENST00000368138.3_Missense_Mutation_p.N477S|PYHIN1_ENST00000392254.2_Intron|PYHIN1_ENST00000392252.3_Intron NM_152501.4|NM_198928.4|NM_198929.4 NP_689714.2|NP_945146.1|NP_945147.1 Q6K0P9 IFIX_HUMAN pyrin and HIN domain family, member 1 486 cell cycle nuclear speck breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(112;0.0378) ACTTCCACCAACCGCCATCCA 0.458000 36 91 0 0 1 0 0 ZNF808 388558 broad.mit.edu 37 19 53057652 53057652 + Missense_Mutation SNP A A T TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr19:53057652A>T ENST00000359798.4 + 5 1663 c.1483A>T c.(1483-1485)Agg>Tgg p.R495W NM_001039886.3 NP_001034975.2 Q8N4W9 ZN808_HUMAN zinc finger protein 808 495 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(8)|kidney(3)|lung(12)|urinary_tract(1) 24 OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213) CTTCAGCCGCAGGTCATCCCT 0.453000 74 47 0 0 1 0 0 GRM6 2916 broad.mit.edu 37 5 178413349 178413349 + Missense_Mutation SNP C C T TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr5:178413349C>T ENST00000231188.5 - 8 2084 c.1906G>A c.(1906-1908)Gcc>Acc p.A636T GRM6_ENST00000517717.1_Missense_Mutation_p.A636T|RP11-281O15.4_ENST00000519491.1_RNA NM_000843.3 NP_000834.2 O15303 GRM6_HUMAN glutamate receptor, metabotropic 6 636 detection of visible light|visual perception integral to plasma membrane NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 55 all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.245) AAGGTGATGGCGTAGATGAGG 0.667000 18 12 0 0 1 0 0 COBL 23242 broad.mit.edu 37 7 51096483 51096483 + Missense_Mutation SNP G G C TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr7:51096483G>C ENST00000395542.2 - 12 2740 c.2556C>G c.(2554-2556)ttC>ttG p.F852L COBL_ENST00000265136.7_Missense_Mutation_p.F770L O75128 COBL_HUMAN cordon-bleu WH2 repeat protein 770 NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Glioma(55;0.08) TGCACCTCCAGAACTCTCTGA 0.587000 18 65 0 0 1 0 0 CNTNAP3B 728577 broad.mit.edu 37 9 43828154 43828154 + Silent SNP T T C rs140150445 by1000genomes TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr9:43828154T>C ENST00000377564.3 + 9 1803 c.1410T>C c.(1408-1410)gaT>gaC p.D470D NM_001201380.1 NP_001188309.1 Q96NU0 CNT3B_HUMAN contactin associated protein-like 3B 470 Laminin G-like 2. cell adhesion|signal transduction integral to membrane receptor binding central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3) 10 TGGTGGTGGATGATGACACAG 0.488000 2 0 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228509627 228509627 + Missense_Mutation SNP G G A TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr1:228509627G>A ENST00000570156.2 + 66 18030 c.17956G>A c.(17956-17958)Gag>Aag p.E5986K OBSCN_ENST00000366707.4_Missense_Mutation_p.E2663K|OBSCN_ENST00000366709.4_Missense_Mutation_p.E2148K|OBSCN_ENST00000284548.11_Missense_Mutation_p.E5029K|OBSCN_ENST00000422127.1_Missense_Mutation_p.E5029K NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 5029 PH. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) AGTTTCAGATGAGGAGCTCTT 0.622000 15 40 0 0 1 0 0 NAGLU 4669 broad.mit.edu 37 17 40695147 40695147 + Missense_Mutation SNP C C T TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr17:40695147C>T ENST00000225927.2 + 6 1224 c.1123C>T c.(1123-1125)Cgt>Tgt p.R375C RP11-400F19.8_ENST00000585572.1_RNA NM_000263.3 NP_000254.2 P54802 ANAG_HUMAN N-acetylglucosaminidase, alpha 375 lysosome alpha-N-acetylglucosaminidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1) 12 all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344) BRCA - Breast invasive adenocarcinoma(366;0.13) N-Acetyl-D-glucosamine(DB00141) AGCTGTGCCCCGTGGCCGCCT 0.647000 94 132 0 0 1 0 0 CNTLN 54875 broad.mit.edu 37 9 17466835 17466835 + Silent SNP G G A TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr9:17466835G>A ENST00000380647.3 + 23 3885 c.3801G>A c.(3799-3801)caG>caA p.Q1267Q CNTLN_ENST00000262360.5_Silent_p.Q1267Q|CNTLN_ENST00000425824.1_Silent_p.Q1267Q Q9NXG0 CNTLN_HUMAN centlein, centrosomal protein 1267 centriole|membrane two-component sensor activity breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 GBM - Glioblastoma multiforme(50;6.14e-10) AAGGTGCACAGAAGACATTGC 0.388000 88 1 0 0 1 0 0 TRHR 7201 broad.mit.edu 37 8 110100327 110100327 + Missense_Mutation SNP T T G TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr8:110100327T>G ENST00000518632.1 + 2 937 c.586T>G c.(586-588)Ttt>Gtt p.F196V TRHR_ENST00000311762.2_Missense_Mutation_p.F196V P34981 TRFR_HUMAN thyrotropin-releasing hormone receptor 196 integral to plasma membrane thyrotropin-releasing hormone receptor activity p.F196V(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(57;2.3e-11) CCTAATGGACTTTGGTGTCTT 0.398000 7 129 0 0 1 0 0 RXRB 6257 broad.mit.edu 37 6 33165668 33165668 + Missense_Mutation SNP G G A TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr6:33165668G>A ENST00000374680.3 - 4 902 c.691C>T c.(691-693)Cgc>Tgc p.R231C RXRB_ENST00000413614.2_Missense_Mutation_p.R135C|RXRB_ENST00000544186.1_Missense_Mutation_p.R41C|RXRB_ENST00000374685.4_Missense_Mutation_p.R231C NM_001270401.1|NM_021976.4 NP_001257330.1|NP_068811.1 P28702 RXRB_HUMAN retinoid X receptor, beta 231 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2) 15 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755) CGGATGGTGCGTTTGAAGAAG 0.527000 23 3 0 0 1 0 0 WDR83 84292 broad.mit.edu 37 19 12783894 12783894 + Missense_Mutation SNP G G A TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr19:12783894G>A ENST00000418543.3 + 9 996 c.647G>A c.(646-648)cGg>cAg p.R216Q WDR83_ENST00000242796.4_Missense_Mutation_p.R216Q NM_001099737.2 NP_001093207.1 Q9BRX9 WDR83_HUMAN WD repeat domain 83 216 nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|cytoplasm breast(2)|large_intestine(1)|lung(1) 4 TCCACATTGCGGCTCCTGGAC 0.647000 11 47 0 0 1 0 0 TCHH 7062 broad.mit.edu 37 1 152082781 152082781 + Missense_Mutation SNP T T C TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr1:152082781T>C ENST00000368804.1 - 2 2911 c.2912A>G c.(2911-2913)gAg>gGg p.E971G NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 971 10 X 30 AA tandem repeats. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) cagcagctgctcttccttctg 0.567000 113 303 0 0 1 0 0 ANKRD13D 338692 broad.mit.edu 37 11 67059632 67059632 + Missense_Mutation SNP C C T TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr11:67059632C>T ENST00000447274.2 + 6 1626 c.451C>T c.(451-453)Cgt>Tgt p.R151C ANKRD13D_ENST00000511455.2_Missense_Mutation_p.R238C|ANKRD13D_ENST00000514166.1_Missense_Mutation_p.R151C|ANKRD13D_ENST00000308440.6_Missense_Mutation_p.R151C Q6ZTN6 AN13D_HUMAN ankyrin repeat domain 13 family, member D 151 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1) 9 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) CCTGGACACTCGTAATGTGGC 0.627000 55 58 0 0 1 0 0 MAL 4118 broad.mit.edu 37 2 95715400 95715400 + Silent SNP G G A TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr2:95715400G>A ENST00000309988.4 + 3 445 c.336G>A c.(334-336)acG>acA p.T112T MAL_ENST00000349807.3_Intron|MAL_ENST00000353004.3_Intron|MAL_ENST00000354078.3_Silent_p.T56T NM_002371.3 NP_002362.1 P21145 MAL_HUMAN mal, T-cell differentiation protein 112 MARVEL. apical protein localization|cell differentiation|central nervous system development|induction of apoptosis|membrane raft polarization|myelination apical plasma membrane|endoplasmic reticulum|endosome|integral to plasma membrane|membrane raft apoptotic protease activator activity|channel activity|lipid binding|structural constituent of myelin sheath endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(2) 10 STAD - Stomach adenocarcinoma(1183;0.18) CCACCATCACGATGCAAGACG 0.637000 4 166 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7722541 7722541 + Silent SNP C C T rs143386308 TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr17:7722541C>T ENST00000572933.1 + 72 12290 c.10830C>T c.(10828-10830)tgC>tgT p.C3610C DNAH2_ENST00000389173.2_Silent_p.C3610C Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 3610 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) ACCGCCCATGCGCCCAGCGGG 0.607000 59 1 0 0 1 0 0 CELSR1 9620 broad.mit.edu 37 22 46930684 46930684 + Missense_Mutation SNP G G A TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr22:46930684G>A ENST00000262738.3 - 1 2383 c.2384C>T c.(2383-2385)aCa>aTa p.T795I CELSR1_ENST00000395964.1_Missense_Mutation_p.T795I NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 795 Cadherin 6. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) GACACTCACTGTGTAATGGGA 0.562000 3 32 0 0 1 0 0 FRMPD2 143162 broad.mit.edu 37 10 49459621 49459621 + Missense_Mutation SNP C C G TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr10:49459621C>G ENST00000374201.3 - 2 441 c.139G>C c.(139-141)Gac>Cac p.D47H FRMPD2_ENST00000305531.3_Missense_Mutation_p.D45H|FRMPD2_ENST00000407470.4_Missense_Mutation_p.D38H NM_001018071.3|NM_001042512.2 NP_001018081|NP_001035977.2 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 47 KIND. tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 66 Kidney(211;0.201) TTGCGGAGGTCTTCCAGGAGC 0.562000 24 48 0 0 1 0 0 KCNH6 81033 broad.mit.edu 37 17 61601691 61601691 + Missense_Mutation SNP G G C TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr17:61601691G>C ENST00000583023.1 + 2 279 c.268G>C c.(268-270)Gag>Cag p.E90Q KCNH6_ENST00000456941.2_Missense_Mutation_p.E90Q|KCNH6_ENST00000580652.1_Missense_Mutation_p.E90Q|KCNH6_ENST00000581784.1_Missense_Mutation_p.E90Q|KCNH6_ENST00000314672.5_Missense_Mutation_p.E90Q NM_030779.2 NP_110406.1 Q9H252 KCNH6_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 6 90 regulation of transcription, DNA-dependent|signal transduction breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 Ibutilide(DB00308) GCTGGGGGCTGAGGAGTGCAA 0.632000 12 87 0 0 1 0 0 PCDH10 57575 broad.mit.edu 37 4 134071656 134071656 + Missense_Mutation SNP T T A TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr4:134071656T>A ENST00000264360.5 + 1 1187 c.361T>A c.(361-363)Tct>Act p.S121T NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) CAACCCCCCCTCTTTCCCGGA 0.612000 38 71 0 0 1 0 0 ZFPL1 7542 broad.mit.edu 37 11 64855423 64855423 + Missense_Mutation SNP G G A TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr11:64855423G>A ENST00000294258.3 + 8 922 c.770G>A c.(769-771)cGg>cAg p.R257Q NM_006782.3 NP_006773.2 O95159 ZFPL1_HUMAN zinc finger protein-like 1 257 regulation of transcription, DNA-dependent|vesicle-mediated transport Golgi apparatus|integral to membrane|nucleus DNA binding|zinc ion binding breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1) 11 TCTCGGAAGCGGCCGCTGACC 0.706000 24 105 0 0 1 0 0 ZDHHC18 84243 broad.mit.edu 37 1 27177621 27177621 + Splice_Site SNP G G A TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr1:27177621G>A ENST00000374142.4 + 6 930 c.835G>A c.(835-837)Gtg>Atg p.V279M ZDHHC18_ENST00000478902.1_3'UTR NM_032283.2 NP_115659.1 Q9NUE0 ZDH18_HUMAN zinc finger, DHHC-type containing 18 integral to membrane zinc ion binding endometrium(1)|large_intestine(2) 3 all_cancers(24;5.82e-22)|all_epithelial(13;9.91e-20)|Colorectal(325;0.000147)|Breast(348;0.000706)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;5.71e-53)|Epithelial(14;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(117;1.53e-29)|Colorectal(126;1.9e-09)|COAD - Colon adenocarcinoma(152;4.2e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000548)|STAD - Stomach adenocarcinoma(196;0.00065)|KIRC - Kidney renal clear cell carcinoma(1967;0.000779)|GBM - Glioblastoma multiforme(114;0.0265)|READ - Rectum adenocarcinoma(331;0.0455)|Lung(427;0.163)|LUSC - Lung squamous cell carcinoma(448;0.237) TGCCCTCACCGTGCTGGAGTT 0.562000 16 106 0 0 1 0 0 GALNT11 63917 broad.mit.edu 37 7 151802370 151802370 + Nonsense_Mutation SNP C C A TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr7:151802370C>A ENST00000434507.1 + 7 1064 c.627C>A c.(625-627)taC>taA p.Y209* GALNT11_ENST00000452146.2_Nonsense_Mutation_p.Y128*|GALNT11_ENST00000422997.2_3'UTR|GALNT11_ENST00000430044.2_Nonsense_Mutation_p.Y209*|GALNT11_ENST00000320311.2_Nonsense_Mutation_p.Y209* Q8NCW6 GLT11_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11) 209 Catalytic subdomain A. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2) 27 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.214) OV - Ovarian serous cystadenocarcinoma(82;0.00168) UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932) TCCAAAAATACCTCCCTGGAA 0.383000 45 54 5.20837e-25 5.59308e-25 1 1 0 EXT1 2131 broad.mit.edu 37 8 119122833 119122833 + Silent SNP C C A TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr8:119122833C>A ENST00000378204.2 - 1 1259 c.453G>T c.(451-453)gcG>gcT p.A151A NM_000127.2 NP_000118.2 Q16394 EXT1_HUMAN exostosin glycosyltransferase 1 151 glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development Golgi membrane|integral to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity p.A151A(1) breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2) 38 all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.012) CAAAGAGGCACGCCTGGCTGG 0.502000 """Mis, N, F, S""" """exostoses, osteosarcoma""" Langer-Giedion syndrome;Hereditary Multiple Exostoses 101 226 6.00224e-42 6.55736e-42 1 1 0 ZBTB8A 653121 broad.mit.edu 37 1 33059276 33059276 + Missense_Mutation SNP G G C TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr1:33059276G>C ENST00000373510.4 + 3 973 c.744G>C c.(742-744)caG>caC p.Q248H RP1-27O5.3_ENST00000480336.1_3'UTR|ZBTB8A_ENST00000316459.4_Missense_Mutation_p.Q248H NM_001040441.1 NP_001035531.1 Q96BR9 ZBT8A_HUMAN zinc finger and BTB domain containing 8A 248 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(2)|large_intestine(2)|lung(2)|prostate(1) 7 AACAAGCACAGATTGATGCTG 0.428000 21 93 0 0 1 0 0 ENAM 10117 broad.mit.edu 37 4 71508536 71508536 + Nonsense_Mutation SNP G G T TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr4:71508536G>T ENST00000396073.3 + 9 1674 c.1393G>T c.(1393-1395)Gaa>Taa p.E465* ENAM_ENST00000472903.1_Intron NM_031889.2 NP_114095.2 Q9NRM1 ENAM_HUMAN enamelin 465 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2) 6 Lung(101;0.235) TCAACAGTATGAAGTTAATAA 0.373000 37 47 3.21399e-22 3.43189e-22 1 1 0 SALL3 27164 broad.mit.edu 37 18 76755318 76755318 + Silent SNP G G A TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr18:76755318G>A ENST00000536229.3 + 2 3421 c.2712G>A c.(2710-2712)acG>acA p.T904T SALL3_ENST00000537592.2_Silent_p.T1109T|SALL3_ENST00000575389.2_Silent_p.T1037T Q9BXA9 SALL3_HUMAN spalt-like transcription factor 3 1109 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) CGCGCCGGACGCCCAAGCAGC 0.736000 6 16 0 0 1 0 0 FETUB 26998 broad.mit.edu 37 3 186370288 186370288 + Silent SNP G G T TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr3:186370288G>T ENST00000265029.3 + 7 1118 c.1017G>T c.(1015-1017)ctG>ctT p.L339L FETUB_ENST00000450521.1_Silent_p.L339L|RP11-134F2.2_ENST00000428501.1_RNA|FETUB_ENST00000382134.3_Silent_p.L274L|RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000382136.3_Silent_p.L302L|FETUB_ENST00000539949.1_Silent_p.L191L NM_014375.2 NP_055190.2 Q9UGM5 FETUB_HUMAN fetuin B 339 extracellular space cysteine-type endopeptidase inhibitor activity endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1) 20 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0479) GAGAAACCCTGGATATTTCCT 0.542000 16 200 6.94344e-10 7.25034e-10 1 1 0 GLI3 2737 broad.mit.edu 37 7 42005321 42005321 + Missense_Mutation SNP G G A TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr7:42005321G>A ENST00000395925.3 - 15 3434 c.3350C>T c.(3349-3351)cCg>cTg p.P1117L GLI3_ENST00000479210.1_5'UTR NM_000168.5 NP_000159.3 P10071 GLI3_HUMAN GLI family zinc finger 3 1117 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.P1117Q(1) NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 112 GCTGTCGTCCGGGAGGGCGCT 0.637000 Pallister-Hall syndrome;Greig Cephalopolysyndactyly 47 153 0 0 1 0 0 MAMLD1 10046 broad.mit.edu 37 X 149639179 149639179 + Missense_Mutation SNP C C T TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chrX:149639179C>T ENST00000370401.2 + 4 1644 c.1334C>T c.(1333-1335)tCt>tTt p.S445F MAMLD1_ENST00000262858.5_Missense_Mutation_p.S445F|MAMLD1_ENST00000432680.2_Missense_Mutation_p.S420F|MAMLD1_ENST00000426613.2_Missense_Mutation_p.S420F Q13495 MAMD1_HUMAN mastermind-like domain containing 1 445 male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2) 37 Acute lymphoblastic leukemia(192;6.56e-05) CACCTGATGTCTGCTCTGCCT 0.597000 67 123 0 0 1 0 0 PRRC2B 84726 broad.mit.edu 37 9 134351583 134351583 + Missense_Mutation SNP G G A TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr9:134351583G>A ENST00000357304.4 + 15 4122 c.4067G>A c.(4066-4068)cGc>cAc p.R1356H PRRC2B_ENST00000458550.1_Intron|PRRC2B_ENST00000405995.1_Intron|PRRC2B_ENST00000372249.1_5'UTR NM_013318.3 NP_037450.2 Q5JSZ5 PRC2B_HUMAN proline-rich coiled-coil 2B 1356 protein binding cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2) 44 ACTGTGGGCCGCAGGTCCCCT 0.667000 OREG0019561 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 35 0 0 1 0 0 NCAM2 4685 broad.mit.edu 37 21 22910211 22910211 + Missense_Mutation SNP C C A TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr21:22910211C>A ENST00000400546.1 + 18 2696 c.2447C>A c.(2446-2448)cCa>cAa p.P816Q NCAM2_ENST00000284894.7_Missense_Mutation_p.P674Q NM_004540.3 NP_004531.2 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 816 neuron cell-cell adhesion integral to membrane|plasma membrane breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 108 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) GCTCTAAATCCAGAAACTATA 0.338000 14 67 6.72482e-11 7.06106e-11 1 1 0 RTN4RL1 146760 broad.mit.edu 37 17 1840005 1840005 + Missense_Mutation SNP C C T TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr17:1840005C>T ENST00000331238.6 - 2 1590 c.1111G>A c.(1111-1113)Ggg>Agg p.G371R NM_178568.2 NP_848663.1 Q86UN2 R4RL1_HUMAN reticulon 4 receptor-like 1 axon regeneration anchored to plasma membrane receptor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1) 11 GCCTGTTTCCCGGCGCCCGCC 0.647000 15 20 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76539979 76539979 + Missense_Mutation SNP G G A TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr17:76539979G>A ENST00000389840.5 - 17 2616 c.2492C>T c.(2491-2493)gCa>gTa p.A831V DNAH17_ENST00000585328.1_Missense_Mutation_p.A831V dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) ATCCCTGACTGCTGCGTAGCG 0.502000 176 230 0 0 1 0 0 PINX1 54984 broad.mit.edu 37 8 10623284 10623284 + Missense_Mutation SNP G G A TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr8:10623284G>A ENST00000314787.3 - 7 733 c.614C>T c.(613-615)aCg>aTg p.T205M PINX1_ENST00000426190.2_3'UTR|SOX7_ENST00000553390.1_Intron|PINX1_ENST00000519088.1_3'UTR|CTD-2135J3.3_ENST00000519568.1_RNA|SOX7_ENST00000554914.1_Intron NM_017884.4 NP_060354.4 PIN2/TERF1 interacting, telomerase inhibitor 1 kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2) 17 Kidney(29;0.0595)|COAD - Colon adenocarcinoma(149;0.105)|KIRC - Kidney renal clear cell carcinoma(542;0.201) TTCCACCTGCGTCTCAGAAAT 0.522000 245 202 0 0 1 0 0 GRM4 2914 broad.mit.edu 37 6 34059662 34059662 + Missense_Mutation SNP T T A TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr6:34059662T>A ENST00000538487.2 - 3 1177 c.734A>T c.(733-735)gAc>gTc p.D245V GRM4_ENST00000535756.1_Missense_Mutation_p.D112V|GRM4_ENST00000544773.2_Missense_Mutation_p.D76V|GRM4_ENST00000609222.1_Missense_Mutation_p.D112V|GRM4_ENST00000455714.2_Missense_Mutation_p.D105V|GRM4_ENST00000374181.4_Missense_Mutation_p.D245V|GRM4_ENST00000374177.3_Missense_Mutation_p.D176V NM_000841.2|NM_001256811.1 NP_000832.1|NP_001243740.1 Q14833 GRM4_HUMAN glutamate receptor, metabotropic 4 activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade cytoplasmic vesicle|integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 L-Glutamic Acid(DB00142) TGACTCACCGTCCTCACGGGA 0.637000 20 1 0 0 1 0 0 UGT3A1 133688 broad.mit.edu 37 5 35991330 35991330 + Missense_Mutation SNP G G A TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr5:35991330G>A ENST00000274278.3 - 1 370 c.13C>T c.(13-15)Cgg>Tgg p.R5W UGT3A1_ENST00000503189.1_Missense_Mutation_p.R5W|UGT3A1_ENST00000333811.4_Intron|UGT3A1_ENST00000513233.1_5'UTR|UGT3A1_ENST00000507113.1_Missense_Mutation_p.R5W NM_152404.3 NP_689617.3 Q6NUS8 UD3A1_HUMAN UDP glycosyltransferase 3 family, polypeptide A1 5 integral to membrane glucuronosyltransferase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4) 46 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AGCAGCACCCGCTGCCCAACC 0.597000 4 102 0 0 1 0 0 ARID1A 8289 broad.mit.edu 37 1 27087942 27087961 + Frame_Shift_Del DEL ATCAAGCATTGCCCAAGATC ATCAAGCATTGCCCAAGATC - TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr1:27087942_27087961delATCAAGCATTGCCCAAGATC ENST00000324856.7 + 6 2600_2619 c.2229_2248delATCAAGCATTGCCCAAGATC c.(2227-2250)caatcaagcattgcccaagatcgafs p.SSIAQDR744fs ARID1A_ENST00000457599.2_Frame_Shift_Del_p.SSIAQDR744fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.SSIAQDR361fs NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 744 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) CCATGAACCAATCAAGCATTGCCCAAGATCGAGGTGAGAG 0.532 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 13 94 --- --- --- --- SFPQ 6421 broad.mit.edu 37 1 35653602 35653610 + In_Frame_Del DEL CTTTCCTCT CTTTCCTCT - TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr1:35653602_35653610delCTTTCCTCT ENST00000357214.5 - 7 1877_1885 c.1779_1787delAGAGGAAAG c.(1777-1788)agagaggaaagt>agt p.REE593del NM_005066.2 NP_005057.1 P23246 SFPQ_HUMAN splicing factor proline/glutamine-rich 593 alternative nuclear mRNA splicing, via spliceosome|DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix|paraspeckles DNA binding|nucleotide binding|protein binding|RNA binding p.E594Q(1) SFPQ/TFE3(6) NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 25 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196) TCGGCTGTAACTTTCCTCTCTTTGGCGCC 0.459 T TFE3 papillary renal cell 16 265 --- --- --- --- ZNF644 84146 broad.mit.edu 37 1 91406718 91406719 + Frame_Shift_Ins INS - - T TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr1:91406718_91406719insT ENST00000370440.1 - 3 409_410 c.192_193insA c.(190-195)acatcafs p.S65fs ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000337393.5_Frame_Shift_Ins_p.S65fs|ZNF644_ENST00000361321.5_Intron Q9H582 ZN644_HUMAN zinc finger protein 644 65 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101) all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173) TTCTGAAATGATGTTTGACAAT 0.376 28 168 --- --- --- --- SEC22B 9554 broad.mit.edu 37 1 145109975 145109976 + RNA INS - - C rs67257307 TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr1:145109975_145109976insC ENST00000453618.1 + 0 673 O75396 SC22B_HUMAN SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome protein binding CAGGAACTTTGCTAAAGATCTA 0.386 4 2 --- --- --- --- FLG2 388698 broad.mit.edu 37 1 152324558 152324559 + Frame_Shift_Del DEL TG TG - rs140875805 byFrequency TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr1:152324558_152324559delTG ENST00000388718.5 - 3 5775_5776 c.5703_5704delCA c.(5701-5706)cacagcfs p.HS1901fs FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 1901 calcium ion binding|structural molecule activity p.H1901fs*30(1) NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGGCTTGGCTGTGTGTGTGTC 0.515 8 399 --- --- --- --- PLXNA2 5362 broad.mit.edu 37 1 208224414 208224415 + Frame_Shift_Ins INS - - T TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr1:208224414_208224415insT ENST00000367033.3 - 17 3951_3952 c.3194_3195insA c.(3193-3195)aacfs p.N1065fs NM_025179.3 NP_079455.3 O75051 PLXA2_HUMAN plexin A2 1065 IPT/TIG 3. axon guidance integral to membrane|intracellular|plasma membrane NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3) 80 OV - Ovarian serous cystadenocarcinoma(81;0.199) TGACATCCAGGTTGAAGCCTGT 0.495 21 90 --- --- --- --- AC011322.1 0 broad.mit.edu 37 3 196713811 196713812 + RNA INS - - ATC TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr3:196713811_196713812insATC ENST00000445739.1 - 0 1_2 CAATCTCTTCAGGATCTCTGTA 0.525 10 20 --- --- --- --- ZNF292 23036 broad.mit.edu 37 6 87966739 87966746 + Frame_Shift_Del DEL AAATGCAG AAATGCAG - TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr6:87966739_87966746delAAATGCAG ENST00000369577.3 + 8 3435_3442 c.3392_3399delAAATGCAG c.(3391-3399)aaaatgcagfs p.KMQ1131fs ZNF292_ENST00000339907.4_Frame_Shift_Del_p.KMQ1126fs NM_015021.1 NP_055836.1 O60281 ZN292_HUMAN zinc finger protein 292 1131 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 89 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) GCTGCATTTAAAATGCAGCGCAAAAGTA 0.394 27 2 --- --- --- --- ASTN2 23245 broad.mit.edu 37 9 119976989 119976991 + In_Frame_Del DEL CAG CAG - TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr9:119976989_119976991delCAG ENST00000313400.4 - 3 761_763 c.661_663delCTG c.(661-663)ctgdel p.L221del ASTN2_ENST00000361209.2_In_Frame_Del_p.L221del|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_In_Frame_Del_p.L221del O75129 ASTN2_HUMAN astrotactin 2 221 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 CGGTGAACACCAGCAGCAGCAGC 0.601 7 74 --- --- --- --- VPS26B 112936 broad.mit.edu 37 11 134095110 134095110 + Frame_Shift_Del DEL G G - TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr11:134095110delG ENST00000281187.5 + 1 572 c.94delG c.(94-96)gggfs p.G32fs VPS26B_ENST00000525095.2_Frame_Shift_Del_p.G32fs NM_052875.3 NP_443107.1 Q4G0F5 VP26B_HUMAN vacuolar protein sorting 26 homolog B (S. pombe) 32 protein transport|vacuolar transport cytosol|retromer complex breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7) 14 all_hematologic(175;0.127) all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216) GACGGAGGACGGGAAGAAGGA 0.592 19 77 --- --- --- --- RB1 5925 broad.mit.edu 37 13 48941669 48941670 + Frame_Shift_Del DEL AA AA - TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr13:48941669_48941670delAA ENST00000267163.4 + 10 1117_1118 c.979_980delAA c.(979-981)aaafs p.K327fs NM_000321.2 NP_000312.2 P06400 RB_HUMAN retinoblastoma 1 327 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.0?(15)|p.?(7) 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) AATTTATCTTAAAAATAAAGAT 0.302 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) 34 3 --- --- --- --- ZFP36L1 677 broad.mit.edu 37 14 69257168 69257169 + Frame_Shift_Ins INS - - C TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr14:69257168_69257169insC ENST00000439696.2 - 2 399_400 c.98_99insG c.(97-99)ggtfs p.G33fs ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Frame_Shift_Ins_p.G33fs NM_001244701.1|NM_004926.3 NP_001231630.1|NP_004917.2 Q07352 TISB_HUMAN ZFP36 ring finger protein-like 1 33 regulation of mRNA stability cytosol|nucleus DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1) 21 all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) CCAGCAGGCAACCCCCTGCACT 0.579 OREG0022753 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 42 7 --- --- --- --- HEXIM1 10614 broad.mit.edu 37 17 43227201 43227203 + In_Frame_Del DEL AGG AGG - TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr17:43227201_43227203delAGG ENST00000332499.2 + 1 2518_2520 c.644_646delAGG c.(643-648)caggag>cag p.E217del NM_006460.2 NP_006451.1 O94992 HEXI1_HUMAN hexamethylene bis-acetamide inducible 1 217 Autoinhibitory acidic region; in absence of 7SK snRNA interacts with the basic region preventing interaction with P-TEFb and modulating subcellular localization. negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 GATCACGACCAGGAGGAGCCGGA 0.606 OREG0024474 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 48 196 --- --- --- --- ZNF507 22847 broad.mit.edu 37 19 32844906 32844907 + Frame_Shift_Ins INS - - A TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr19:32844906_32844907insA ENST00000311921.4 + 2 1362_1363 c.1170_1171insA c.(1171-1173)aaafs p.K391fs ZNF507_ENST00000544431.1_Frame_Shift_Ins_p.K391fs|ZNF507_ENST00000355898.5_Frame_Shift_Ins_p.K391fs NM_001136156.1|NM_014910.4 NP_001129628.1|NP_055725.2 Q8TCN5 ZN507_HUMAN zinc finger protein 507 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 31 Esophageal squamous(110;0.162) GCAGCCCCAATAAAAAAGGGCA 0.441 23 54 --- --- --- --- SEC14L4 284904 broad.mit.edu 37 22 30901568 30901568 + Frame_Shift_Del DEL G G - TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chr22:30901568delG ENST00000255858.7 - 1 114 c.31delC c.(31-33)cagfs p.Q13fs SEC14L4_ENST00000392772.2_5'UTR|SEC14L4_ENST00000540456.1_5'UTR|SEC14L4_ENST00000381982.3_Frame_Shift_Del_p.Q13fs NM_001161368.1|NM_174977.3 NP_001154840.1|NP_777637.1 Q9UDX3 S14L4_HUMAN SEC14-like 4 (S. cerevisiae) 13 integral to membrane|intracellular lipid binding|transporter activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1) 21 Vitamin E(DB00163) TCCTGCTGCTGGGGGCTCAGG 0.741 2 4 --- --- --- --- STAG2 10735 broad.mit.edu 37 X 123171389 123171390 + Frame_Shift_Del DEL GA GA - TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b6d9622-3948-448c-8d24-73e463336d7f e19d0798-8651-4fc6-96e9-c1eb4f29c5e6 g.chrX:123171389_123171390delGA ENST00000371160.1 + 6 591_592 c.301_302delGA c.(301-303)gatfs p.D101fs STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Frame_Shift_Del_p.D101fs|STAG2_ENST00000371157.3_Frame_Shift_Del_p.D101fs|STAG2_ENST00000371144.3_Frame_Shift_Del_p.D101fs|STAG2_ENST00000371145.3_Frame_Shift_Del_p.D101fs|STAG2_ENST00000354548.5_Frame_Shift_Del_p.D32fs NM_001282418.1 NP_001269347.1 Q8N3U4 STAG2_HUMAN stromal antigen 2 101 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4) 78 GGTGGTAGATGATTGGATAGAA 0.307 58 6 --- --- --- ---