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 DNAH5 1767 broad.mit.edu 37 5 13692178 13692178 + Missense_Mutation SNP T T C TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr5:13692178T>C ENST00000265104.4 - 79 13894 c.13790A>G c.(13789-13791)tAc>tGc p.Y4597C NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4597 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) AGCGGCAATGTAGTTCAAGTC 0.483000 Kartagener syndrome 4 76 0 0 0.009096 0 0 TTLL3 26140 broad.mit.edu 37 3 9860559 9860559 + Missense_Mutation SNP G G C TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr3:9860559G>C ENST00000547186.1 + 6 700 c.484G>C c.(484-486)Gag>Cag p.E162Q TTLL3_ENST00000427853.3_5'UTR|TTLL3_ENST00000397241.1_5'UTR|TTLL3_ENST00000426895.4_Missense_Mutation_p.E305Q|TTLL3_ENST00000383827.1_5'UTR|ARPC4-TTLL3_ENST00000397256.1_Intron NM_001025930.3 NP_001021100.3 Q9Y4R7 TTLL3_HUMAN tubulin tyrosine ligase-like family, member 3 162 TTL. axoneme assembly|cilium assembly|protein polyglycylation cilium axoneme|cytoplasm|microtubule protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1) 26 Medulloblastoma(99;0.227) GGTGAAGTCTGAGTGGAAGTC 0.577000 6 173 0 0 0.001984 0 0 BEND2 139105 broad.mit.edu 37 X 18195820 18195820 + Missense_Mutation SNP G G A TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chrX:18195820G>A ENST00000380033.4 - 10 1631 c.1499C>T c.(1498-1500)gCc>gTc p.A500V BEND2_ENST00000380030.3_Missense_Mutation_p.A409V NM_153346.4 NP_699177.2 Q8NDZ0 BEND2_HUMAN BEN domain containing 2 500 BEN 1. NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1) 49 CTTAGGTTTGGCCATATTTTG 0.393000 4 183 0 0 0.021553 0 0 SKA3 221150 broad.mit.edu 37 13 21729856 21729856 + Missense_Mutation SNP C C G TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr13:21729856C>G ENST00000314759.5 - 8 1338 c.1214G>C c.(1213-1215)cGa>cCa p.R405P SKA3_ENST00000400018.3_Intron NM_145061.5 NP_659498.4 Q8IX90 SKA3_HUMAN spindle and kinetochore associated complex subunit 3 405 cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization condensed chromosome outer kinetochore|cytoplasm|spindle microtubule protein binding breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 19 GCTGACATCTCGGATGTTCTG 0.353000 8 120 0 0 0.004482 0 0 CARD10 29775 broad.mit.edu 37 22 37891803 37891803 + Missense_Mutation SNP C C T TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr22:37891803C>T ENST00000403299.1 - 15 2483 c.2267G>A c.(2266-2268)cGg>cAg p.R756Q CARD10_ENST00000406271.3_Missense_Mutation_p.R470Q|CARD10_ENST00000251973.5_Missense_Mutation_p.R756Q Q9BWT7 CAR10_HUMAN caspase recruitment domain family, member 10 756 activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis CBM complex receptor signaling complex scaffold activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 17 Melanoma(58;0.0574) GTCCAGGTCCCGCAGAGTGAG 0.642000 6 32 0 0 0.021553 0 0 PAPPA 5069 broad.mit.edu 37 9 119124919 119124919 + Missense_Mutation SNP G G A TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr9:119124919G>A ENST00000328252.3 + 18 4765 c.4396G>A c.(4396-4398)Ggc>Agc p.G1466S PAPPA_ENST00000534838.1_Missense_Mutation_p.G504S NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 1466 Sushi 4. cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 CACCTGGAACGGCTCCTTCCA 0.532000 4 104 0 0 0.014758 0 0 NAPEPLD 222236 broad.mit.edu 37 7 102760426 102760426 + Missense_Mutation SNP G G A TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr7:102760426G>A ENST00000417955.1 - 3 693 c.539C>T c.(538-540)gCg>gTg p.A180V NAPEPLD_ENST00000465647.1_Missense_Mutation_p.A180V|NAPEPLD_ENST00000455523.2_Missense_Mutation_p.A253V|NAPEPLD_ENST00000427257.1_Missense_Mutation_p.A180V|NAPEPLD_ENST00000341533.4_Missense_Mutation_p.A180V Q6IQ20 NAPEP_HUMAN N-acyl phosphatidylethanolamine phospholipase D 180 phospholipid catabolic process membrane metal ion binding endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 GATAAGGACCGCATCTATTGG 0.463000 4 157 0 0 0.014758 0 0 TTLL6 284076 broad.mit.edu 37 17 46847448 46847448 + Silent SNP G G A TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr17:46847448G>A ENST00000393382.3 - 14 2193 c.2052C>T c.(2050-2052)tcC>tcT p.S684S TTLL6_ENST00000433608.2_Silent_p.S377S NM_001130918.1 NP_001124390.1 Q8N841 TTLL6_HUMAN tubulin tyrosine ligase-like family, member 6 636 cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2) 18 TGGTTTCTACGGAGGTTAAGT 0.458000 8 91 0 0 0.008291 0 0 DPF1 8193 broad.mit.edu 37 19 38704349 38704349 + Missense_Mutation SNP G G A TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr19:38704349G>A ENST00000416611.1 - 10 1072 c.949C>T c.(949-951)Cgg>Tgg p.R317W DPF1_ENST00000355526.4_Missense_Mutation_p.R343W|DPF1_ENST00000456296.1_Missense_Mutation_p.R317W|DPF1_ENST00000414789.1_Missense_Mutation_p.R261W|DPF1_ENST00000420980.2_Missense_Mutation_p.R299W|DPF1_ENST00000412732.1_Missense_Mutation_p.R261W Q92782 DPF1_HUMAN D4, zinc and double PHD fingers family 1 299 induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nBAF complex zinc ion binding large_intestine(1)|lung(4)|ovary(1)|skin(1) 7 all_cancers(60;1.24e-06) Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) CGGTAGGTCCGCACGGCTGCC 0.667000 4 65 0 0 0.014758 0 0 CLEC4D 338339 broad.mit.edu 37 12 8672931 8672931 + Missense_Mutation SNP G G A TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr12:8672931G>A ENST00000299665.2 + 5 687 c.494G>A c.(493-495)cGc>cAc p.R165H NM_080387.4 NP_525126.2 Q8WXI8 CLC4D_HUMAN C-type lectin domain family 4, member D 165 C-type lectin. innate immune response integral to membrane sugar binding p.R165H(1) large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 14 Lung SC(5;0.184) TTTAACCCACGCAGAGTGTAA 0.418000 5 78 0 0 0.014758 0 0 ANK2 287 broad.mit.edu 37 4 114290865 114290865 + Silent SNP G G A TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr4:114290865G>A ENST00000357077.4 + 43 11567 c.11514G>A c.(11512-11514)gaG>gaA p.E3838E ANK2_ENST00000394537.3_Silent_p.E1753E|ANK2_ENST00000509550.1_Silent_p.E929E|ANK2_ENST00000510275.2_Silent_p.E405E|ANK2_ENST00000264366.6_Silent_p.E3805E|ANK2_ENST00000506722.1_Silent_p.E1744E NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 3805 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) ACAGAGAGGAGAGCTCTCCGC 0.542000 7 47 0 0 0.003080 0 0 EIF4G3 8672 broad.mit.edu 37 1 21191633 21191633 + Missense_Mutation SNP C C G TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr1:21191633C>G ENST00000602326.1 - 19 3178 c.2595G>C c.(2593-2595)caG>caC p.Q865H EIF4G3_ENST00000374935.3_Missense_Mutation_p.Q579H|EIF4G3_ENST00000537738.1_Missense_Mutation_p.Q349H|EIF4G3_ENST00000264211.8_Missense_Mutation_p.Q859H|EIF4G3_ENST00000374937.3_Missense_Mutation_p.Q865H|EIF4G3_ENST00000536266.1_Missense_Mutation_p.Q463H|EIF4G3_ENST00000400422.1_Missense_Mutation_p.Q859H NM_001198802.1 NP_001185731.1 O43432 IF4G3_HUMAN eukaryotic translation initiation factor 4 gamma, 3 859 MIF4G.|eIF3/EIF4A-binding (By similarity). interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|RNA cap binding|translation initiation factor activity endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3) 70 all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191) CAAGTTCTTTCTGCTTCTTCT 0.408000 3 109 0 0 0.004672 0 0 SYNE2 23224 broad.mit.edu 37 14 64656947 64656947 + Silent SNP C C T rs145549349 by1000genomes TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr14:64656947C>T ENST00000357395.3 + 100 18329 c.7185C>T c.(7183-7185)atC>atT p.I2395I ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Silent_p.I2644I|SYNE2_ENST00000554584.1_Silent_p.I5873I|SYNE2_ENST00000394768.2_Silent_p.I2395I|SYNE2_ENST00000358025.3_Silent_p.I6010I|SYNE2_ENST00000344113.4_Silent_p.I6010I Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 6010 A -> T (in dbSNP:rs4027405). centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) TTGATGTCATCGGATCAAGGT 0.403000 4 48 0 0 0.009096 0 0 FAT4 79633 broad.mit.edu 37 4 126241841 126241841 + Silent SNP T T C TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr4:126241841T>C ENST00000394329.3 + 1 4288 c.4275T>C c.(4273-4275)atT>atC p.I1425I NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 1425 Cadherin 14. 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 CTGGAGATATTTTCAAGTCTA 0.423000 3 157 0 0 0.004672 0 0 COASY 80347 broad.mit.edu 37 17 40716511 40716511 + Silent SNP C C G TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr17:40716511C>G ENST00000393818.2 + 3 1419 c.963C>G c.(961-963)ctC>ctG p.L321L COASY_ENST00000590958.1_Silent_p.L350L|COASY_ENST00000420359.1_Silent_p.L321L|COASY_ENST00000449624.1_Silent_p.L26L|COASY_ENST00000421097.2_Silent_p.L321L NM_025233.6 NP_079509.5 Q13057 COASY_HUMAN CoA synthase 321 Phosphopantetheine adenylyltransferase. coenzyme A biosynthetic process|pantothenate metabolic process mitochondrial outer membrane ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1) 21 all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344) BRCA - Breast invasive adenocarcinoma(366;0.13) TGAAGGACCTCAGACATACAG 0.527000 4 70 0 0 0.014758 0 0 MYH7 4625 broad.mit.edu 37 14 23884264 23884264 + Silent SNP G G A rs3729831 TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr14:23884264G>A ENST00000355349.3 - 37 5661 c.5499C>T c.(5497-5499)aaC>aaT p.N1833N NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1833 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) CCGACTCTGCGTTGCGCTTCT 0.652000 7 154 0 0 0.004482 0 0 TBC1D3P2 440452 broad.mit.edu 37 17 60342186 60342186 + RNA SNP T T C rs79096325 TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr17:60342186T>C ENST00000581291.1 - 0 1967 breast(2)|kidney(1)|lung(2) 5 GCTGGGGGTGTTGGGAGGGGC 0.498000 3 25 0 0 0.004672 0 0 XIRP2 129446 broad.mit.edu 37 2 168100193 168100193 + Missense_Mutation SNP A A G TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr2:168100193A>G ENST00000409195.1 + 9 2380 c.2291A>G c.(2290-2292)aAg>aGg p.K764R XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.K542R|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.K764R NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 589 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 GACGTTGAAAAGGGAGATGTA 0.373000 3 60 0 0 0.009096 0 0 CSRP2BP 57325 broad.mit.edu 37 20 18123449 18123449 + Missense_Mutation SNP G G A TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr20:18123449G>A ENST00000278816.2 + 2 795 c.145G>A c.(145-147)Gac>Aac p.D49N CSRP2BP_ENST00000377681.2_Missense_Mutation_p.D49N|CSRP2BP_ENST00000604915.1_Missense_Mutation_p.D49N|PET117_ENST00000432901.2_3'UTR|CSRP2BP_ENST00000435364.2_Missense_Mutation_p.D49N Q9H8E8 CSR2B_HUMAN CSRP2 binding protein 49 histone H3 acetylation Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm LIM domain binding|N-acetyltransferase activity NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1) 34 GGCATCAGTGGACTTATCGCA 0.537000 4 83 0 0 0.001984 0 0 MDC1 9656 broad.mit.edu 37 6 30671883 30671883 + Missense_Mutation SNP G G A TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr6:30671883G>A ENST00000376406.3 - 10 5724 c.5077C>T c.(5077-5079)Ccg>Tcg p.P1693S MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.P1429S NM_014641.2 NP_055456.2 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 1693 cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|kidney(1)|ovary(1) 4 GTAGGAACCGGCATAGCTCTT 0.537000 Other conserved DNA damage response genes 4 160 0 0 0.009096 0 0 ERC1 23085 broad.mit.edu 37 12 1221439 1221439 + Missense_Mutation SNP A A T TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr12:1221439A>T ENST00000397203.2 + 6 1782 c.1376A>T c.(1375-1377)aAg>aTg p.K459M ERC1_ENST00000543086.3_Intron|ERC1_ENST00000360905.4_Missense_Mutation_p.K459M|ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000546231.2_Missense_Mutation_p.K459M|ERC1_ENST00000355446.5_Missense_Mutation_p.K459M|ERC1_ENST00000589028.1_Missense_Mutation_p.K459M Q8IUD2 RB6I2_HUMAN ELKS/RAB6-interacting/CAST family member 1 459 I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport Golgi membrane|IkappaB kinase complex|presynaptic membrane leucine zipper domain binding NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 all_epithelial(11;0.0698)|Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567) GAGCTGAAAAAGAAAGCGGCT 0.468000 7 127 0 0 0.003080 0 0 ADCY4 196883 broad.mit.edu 37 14 24788554 24788554 + Missense_Mutation SNP G G A TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr14:24788554G>A ENST00000310677.4 - 23 2935 c.2822C>T c.(2821-2823)tCt>tTt p.S941F ADCY4_ENST00000418030.2_Missense_Mutation_p.S941F|ADCY4_ENST00000554068.2_Missense_Mutation_p.S941F NM_001198568.1|NM_001198592.1|NM_139247.3 NP_001185497.1|NP_001185521.1|NP_640340.2 Q8NFM4 ADCY4_HUMAN adenylate cyclase 4 941 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding|protein binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(265;0.0192) ATCCTGTCCAGAGGTGGCATT 0.527000 8 78 0 0 0.006214 0 0 EIF3D 8664 broad.mit.edu 37 22 36916654 36916654 + Missense_Mutation SNP G G A TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr22:36916654G>A ENST00000216190.8 - 7 917 c.547C>T c.(547-549)Cgc>Tgc p.R183C EIF3D_ENST00000541106.1_Missense_Mutation_p.R134C|EIF3D_ENST00000405442.1_Missense_Mutation_p.R183C NM_003753.3 NP_003744.1 O15371 EIF3D_HUMAN eukaryotic translation initiation factor 3, subunit D 183 cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 15 TCCAAGTAGCGCATCTTCATC 0.428000 3 46 0 0 0.004672 0 0 TMPO 7112 broad.mit.edu 37 12 98941400 98941400 + Missense_Mutation SNP C C T TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr12:98941400C>T ENST00000556029.1 + 9 1485 c.1129C>T c.(1129-1131)Ctc>Ttc p.L377F TMPO_ENST00000343315.5_Missense_Mutation_p.L337F|TMPO_ENST00000393053.2_Missense_Mutation_p.L268F|TMPO_ENST00000548223.1_3'UTR NM_001032283.2 NP_001027454.1 P42167 LAP2B_HUMAN thymopoietin 377 Nucleoplasmic (Potential). integral to membrane|nuclear inner membrane DNA binding|lamin binding breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 GCCATTAGAACTCAGTGATTT 0.428000 6 58 0 0 0.021553 0 0 OR5D16 390144 broad.mit.edu 37 11 55606601 55606601 + Missense_Mutation SNP T T C TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr11:55606601T>C ENST00000378396.1 + 1 374 c.374T>C c.(373-375)tTt>tCt p.F125S NM_001005496.1 NP_001005496.1 Q8NGK9 OR5DG_HUMAN olfactory receptor, family 5, subfamily D, member 16 125 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 44 all_epithelial(135;0.208) TATGACCACTTTGTGGCCATT 0.443000 4 123 0 0 0.009096 0 0 TMEM55B 90809 broad.mit.edu 37 14 20928987 20928987 + Missense_Mutation SNP C C G TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr14:20928987C>G ENST00000250489.4 - 2 446 c.160G>C c.(160-162)Gag>Cag p.E54Q TMEM55B_ENST00000398020.4_Missense_Mutation_p.E61Q Q86T03 TM55B_HUMAN transmembrane protein 55B 54 Pro-rich. integral to membrane|late endosome membrane|lysosomal membrane hydrolase activity endometrium(3)|kidney(2)|large_intestine(2)|lung(3)|prostate(1) 11 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;1.09e-07)|all cancers(55;1.19e-06) GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193) GGATGCCCCTCGGGAAACGGG 0.587000 4 96 0 0 0.009096 0 0 TBC1D3P2 440452 broad.mit.edu 37 17 60342197 60342197 + RNA SNP T T C rs76635225 TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr17:60342197T>C ENST00000581291.1 - 0 1956 breast(2)|kidney(1)|lung(2) 5 TGGGAGGGGCTGGGCATGGTT 0.488000 3 33 0 0 0.004672 0 0 ACTL9 284382 broad.mit.edu 37 19 8808007 8808007 + Missense_Mutation SNP C C T TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr19:8808007C>T ENST00000324436.3 - 1 1165 c.1045G>A c.(1045-1047)Ggc>Agc p.G349S NM_178525.3 NP_848620.2 Q8TC94 ACTL9_HUMAN actin-like 9 349 cytoplasm|cytoskeleton NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 36 CCCTCGAAGCCGGTGAAGAGC 0.637000 4 38 0 0 0.009096 0 0 SMG5 23381 broad.mit.edu 37 1 156237465 156237465 + Missense_Mutation SNP C C T TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr1:156237465C>T ENST00000361813.5 - 10 1057 c.913G>A c.(913-915)Gtg>Atg p.V305M SMG5_ENST00000368267.4_Intron NM_015327.2 NP_056142.2 Q9UPR3 SMG5_HUMAN SMG5 nonsense mediated mRNA decay factor 305 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|nucleus protein phosphatase 2A binding NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 48 Hepatocellular(266;0.158) TCTGAGTCCACGGAGCTACAG 0.572000 3 11 0 0 0.004672 0 0 ARHGEF12 23365 broad.mit.edu 37 11 120316154 120316154 + Missense_Mutation SNP T T A TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr11:120316154T>A ENST00000397843.2 + 16 1492 c.1326T>A c.(1324-1326)gaT>gaA p.D442E ARHGEF12_ENST00000356641.3_Missense_Mutation_p.D423E|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.D339E NM_015313.2 NP_056128.1 Q9NZN5 ARHGC_HUMAN Rho guanine nucleotide exchange factor (GEF) 12 442 RGSL. apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2) 61 Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231) CTGTTCCTGATGAAATGTCTG 0.353000 T MLL AML 3 86 0 0 0.004672 0 0 KIF1B 23095 broad.mit.edu 37 1 10363666 10363666 + Missense_Mutation SNP C C T TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr1:10363666C>T ENST00000377093.4 + 21 2576 c.2423C>T c.(2422-2424)gCc>gTc p.A808V KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377081.1_Intron|KIF1B_ENST00000377083.1_Missense_Mutation_p.A808V|KIF1B_ENST00000377086.1_Intron NM_183416.3 NP_904325.2 O60333 KIF1B_HUMAN kinesin family member 1B 0 anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2) 71 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) GACGTCATGGCCACTGGGAAA 0.498000 4 57 0 0 0.009096 0 0 DGCR2 9993 broad.mit.edu 37 22 19028791 19028791 + Silent SNP G G A TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr22:19028791G>A ENST00000263196.7 - 9 1423 c.1176C>T c.(1174-1176)ctC>ctT p.L392L DGCR2_ENST00000537045.1_Silent_p.L351L|DGCR2_ENST00000545799.1_3'UTR NM_001184781.1|NM_005137.2 NP_001171710.1|NP_005128.1 P98153 IDD_HUMAN DiGeorge syndrome critical region gene 2 392 cell adhesion|organ morphogenesis integral to membrane receptor activity|sugar binding breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1) 18 Colorectal(54;0.0993) TCCTGCGGCCGAGGTTGAAGT 0.627000 5 47 0 0 0.021553 0 0 TP53 7157 broad.mit.edu 37 17 7577120 7577120 + Missense_Mutation SNP C C T rs28934576 by1000genomes TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr17:7577120C>T ENST00000420246.2 - 8 950 c.818G>A c.(817-819)cGt>cAt p.R273H TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000269305.4_Missense_Mutation_p.R273H 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.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(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) GGCACAAACACGCACCTCAAA 0.542000 R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM) 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) 7 22 0 0 0.001984 0 0 DDX6 1656 broad.mit.edu 37 11 118625459 118625459 + Missense_Mutation SNP C C G TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr11:118625459C>G ENST00000264018.4 - 13 1719 c.1414G>C c.(1414-1416)Gaa>Caa p.E472Q DDX6_ENST00000526070.2_Missense_Mutation_p.E472Q|DDX6_ENST00000534980.1_Missense_Mutation_p.E472Q NM_004397.4 NP_004388.2 P26196 DDX6_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 6 472 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1) 13 all_hematologic(175;0.0839) Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103) OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377) CTGTGGTATTCTGCCACATAC 0.423000 T IGH@ B-NHL 7 159 0 0 0.003080 0 0 JAKMIP1 152789 broad.mit.edu 37 4 6083476 6083476 + Missense_Mutation SNP G G A TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr4:6083476G>A ENST00000409021.3 - 6 1410 c.961C>T c.(961-963)Cgc>Tgc p.R321C JAKMIP1_ENST00000409831.1_Missense_Mutation_p.R321C|JAKMIP1_ENST00000282924.5_Missense_Mutation_p.R321C|JAKMIP1_ENST00000457227.2_5'UTR|JAKMIP1_ENST00000410077.2_Missense_Mutation_p.R156C|JAKMIP1_ENST00000409371.3_Missense_Mutation_p.R156C NM_001099433.1 NP_001092903.1 Q96N16 JKIP1_HUMAN janus kinase and microtubule interacting protein 1 321 Mediates association with microtubules. protein transport cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex GABA receptor binding|RNA binding NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 TCTCGTGAGCGTTTCAGCTGT 0.542000 6 70 0 0 0.021553 0 0 AXIN2 8313 broad.mit.edu 37 17 63554319 63554319 + Silent SNP C C T TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr17:63554319C>T ENST00000307078.5 - 2 733 c.420G>A c.(418-420)gaG>gaA p.E140E AXIN2_ENST00000375702.5_Silent_p.E140E|CTD-2535L24.2_ENST00000577662.1_3'UTR NM_004655.3 NP_004646.3 Q9Y2T1 AXIN2_HUMAN axin 2 140 RGS. cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 34 TGCTGTTGTTCTCAATGTACC 0.453000 Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome 6 176 0 0 0.021553 0 0 ZNF821 55565 broad.mit.edu 37 16 71898871 71898871 + Nonsense_Mutation SNP T T A TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr16:71898871T>A ENST00000425432.1 - 5 626 c.247A>T c.(247-249)Aaa>Taa p.K83* ZNF821_ENST00000564134.1_Nonsense_Mutation_p.K83*|RP11-498D10.4_ENST00000569119.1_Intron|ZNF821_ENST00000313565.6_Nonsense_Mutation_p.K41*|ZNF821_ENST00000565601.1_Nonsense_Mutation_p.K83*|ZNF821_ENST00000564943.1_Intron|ZNF821_ENST00000446827.2_Nonsense_Mutation_p.K41*|RP11-498D10.4_ENST00000568581.1_Intron NM_001201552.1 NP_001188481.1 O75541 ZN821_HUMAN zinc finger protein 821 83 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(2) 13 TTCTCCACTTTGACCACCCCT 0.522000 11 124 0 0 0.010729 0 0 GOLGA6C 653641 broad.mit.edu 37 15 75562493 75562493 + Missense_Mutation SNP C C A TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr15:75562493C>A ENST00000300576.5 + 18 2035 c.2035C>A c.(2035-2037)Ccg>Acg p.P679T NM_001164404.1 NP_001157876.1 A6NDK9 GOG6C_HUMAN golgin A6 family, member C 679 ovary(1) 1 TGACAACCCCCCGGTACAGCA 0.602000 5 107 1.024e-07 1.11709e-07 0.014758 1 0 TDRD6 221400 broad.mit.edu 37 6 46661019 46661019 + Silent SNP G G A TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr6:46661019G>A ENST00000544460.1 + 1 5408 c.5154G>A c.(5152-5154)caG>caA p.Q1718Q TDRD6_ENST00000316081.6_Silent_p.Q1718Q NM_001168359.1 NP_001161831.1 O60522 TDRD6_HUMAN tudor domain containing 6 1718 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 Lung(136;0.192) AGATAAAGCAGACTCTTGGGT 0.318000 3 59 0 0 0.004672 0 0 TAS1R2 80834 broad.mit.edu 37 1 19166791 19166791 + Silent SNP G G A TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr1:19166791G>A ENST00000375371.3 - 6 1843 c.1822C>T c.(1822-1824)Ctg>Ttg p.L608L NM_152232.2 NP_689418.2 Q8TE23 TS1R2_HUMAN taste receptor, type 1, member 2 608 detection of chemical stimulus involved in sensory perception of sweet taste plasma membrane protein heterodimerization activity|taste receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1) 45 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) Aspartame(DB00168) AGCAGTGTCAGCATCAGGAAG 0.632000 4 96 0 0 0.014758 0 0 C1orf158 93190 broad.mit.edu 37 1 12819314 12819314 + Silent SNP C C T TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr1:12819314C>T ENST00000288048.5 + 3 513 c.297C>T c.(295-297)gaC>gaT p.D99D C1orf158_ENST00000376210.3_Silent_p.D61D NM_152290.2 NP_689503.2 Q8N1D5 CA158_HUMAN chromosome 1 open reading frame 158 99 central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|skin(2)|urinary_tract(3) 10 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|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;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) GCACCTATGACGACCATTACA 0.567000 9 175 0 0 0.004482 0 0 CHAD 1101 broad.mit.edu 37 17 48545610 48545610 + Missense_Mutation SNP C C G rs147638039 byFrequency TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr17:48545610C>G ENST00000508540.1 - 1 717 c.565G>C c.(565-567)Ggg>Cgg p.G189R ACSF2_ENST00000300441.4_Intron|ACSF2_ENST00000427954.2_Intron|ACSF2_ENST00000502667.1_Intron|CHAD_ENST00000258969.4_Missense_Mutation_p.G189R|ACSF2_ENST00000541920.1_Intron|ACSF2_ENST00000504392.1_Intron NM_001267.2 NP_001258.2 O15335 CHAD_HUMAN chondroadherin 189 regulation of cell growth proteinaceous extracellular matrix extracellular matrix structural constituent central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2) 15 Breast(11;1.93e-18) BRCA - Breast invasive adenocarcinoma(22;1.55e-09) TCCAGGGCCCCGGGCTGCAGG 0.637000 3 113 0 0 0.004672 0 0 ARID1A 8289 broad.mit.edu 37 1 27089711 27089711 + Silent SNP C C T TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr1:27089711C>T ENST00000324856.7 + 8 3038 c.2667C>T c.(2665-2667)ggC>ggT p.G889G ARID1A_ENST00000457599.2_Silent_p.G889G|ARID1A_ENST00000374152.2_Silent_p.G506G NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 889 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) CACCAGGGGGCATGAACCGGA 0.567000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 4 42 0 0 0.009096 0 0 STIL 6491 broad.mit.edu 37 1 47717292 47717292 + Missense_Mutation SNP C C A TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr1:47717292C>A ENST00000360380.3 - 18 3743 c.3380G>T c.(3379-3381)gGa>gTa p.G1127V STIL_ENST00000337817.5_Missense_Mutation_p.G1127V|STIL_ENST00000396221.2_Missense_Mutation_p.G1110V|STIL_ENST00000243182.6_Missense_Mutation_p.G1127V|STIL_ENST00000371877.3_Missense_Mutation_p.G1128V Q15468 STIL_HUMAN SCL/TAL1 interrupting locus 1127 cell proliferation|multicellular organismal development centrosome|cytosol central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 36 Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444) TTGTAGGAGTCCATATCTCTT 0.378000 7 164 0.00198382 0.00212552 0.001984 1 0 KIAA0430 9665 broad.mit.edu 37 16 15718917 15718917 + Silent SNP C C T TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr16:15718917C>T ENST00000396368.3 - 9 2273 c.2067G>A c.(2065-2067)ccG>ccA p.P689P KIAA0430_ENST00000548025.1_Silent_p.P686P|KIAA0430_ENST00000602337.1_Silent_p.P686P|KIAA0430_ENST00000540441.2_Silent_p.P546P|KIAA0430_ENST00000551742.1_Silent_p.P688P|KIAA0430_ENST00000344181.3_Intron NM_001184998.1|NM_001184999.1|NM_014647.3 NP_001171927.1|NP_001171928.1|NP_055462.2 Q9Y4F3 LKAP_HUMAN KIAA0430 688 peroxisome nucleotide binding|RNA binding breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1) 40 CCGAGTTTTTCGGCGTCGACA 0.483000 12 116 0 0 0.016723 0 0 SLC17A8 246213 broad.mit.edu 37 12 100784777 100784777 + Splice_Site SNP A A G TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr12:100784777A>G ENST00000323346.5 + 3 667 c.e3-1 SLC17A8_ENST00000392989.3_Splice_Site NM_001145288.1|NM_139319.2 NP_001138760.1|NP_647480.1 Q8NDX2 VGLU3_HUMAN solute carrier family 17 (vesicular glutamate transporter), member 8 neurotransmitter transport|sensory perception of sound|sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 44 TCTCATTTCCAGACAGCACAG 0.378000 8 92 0 0 0.006214 0 0 SRSF4 6429 broad.mit.edu 37 1 29475489 29475489 + Missense_Mutation SNP C C G TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr1:29475489C>G ENST00000373795.4 - 6 1152 c.918G>C c.(916-918)gaG>gaC p.E306D SRSF4_ENST00000546138.1_3'UTR|SRSF4_ENST00000466448.1_5'UTR NM_005626.4 NP_005617.2 Q08170 SRSF4_HUMAN serine/arginine-rich splicing factor 4 306 Arg/Ser-rich (RS domain). mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nuclear speck nucleotide binding|RNA binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1) 27 ccactctcctctcctgactcc 0.572000 8 173 0 0 0.003080 0 0 FES 2242 broad.mit.edu 37 15 91433125 91433125 + Nonsense_Mutation SNP C C T TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr15:91433125C>T ENST00000328850.3 + 8 1124 c.982C>T c.(982-984)Cag>Tag p.Q328* FES_ENST00000394300.3_Nonsense_Mutation_p.Q270*|FES_ENST00000394302.1_Nonsense_Mutation_p.Q270*|FES_ENST00000414248.2_Nonsense_Mutation_p.Q270*|FES_ENST00000450438.2_Nonsense_Mutation_p.Q270*|FES_ENST00000448367.1_3'UTR|FES_ENST00000444422.2_Nonsense_Mutation_p.Q328* NM_002005.3 NP_001996.1 P07332 FES_HUMAN feline sarcoma oncogene 328 axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(2)|ovary(1) 3 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.229) GTTCAGGCGGCAGGAGATGGT 0.637000 6 142 0 0 0.021553 0 0 RBM10 8241 broad.mit.edu 37 X 47045133 47045133 + Missense_Mutation SNP C C T TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chrX:47045133C>T ENST00000377604.3 + 21 3116 c.2374C>T c.(2374-2376)Cgg>Tgg p.R792W RBM10_ENST00000329236.7_Missense_Mutation_p.R714W|RBM10_ENST00000468791.1_Intron|RBM10_ENST00000345781.6_Missense_Mutation_p.R715W NM_001204467.1|NM_001204468.1|NM_005676.4 NP_001191396.1|NP_001191397.1|NP_005667.2 P98175 RBM10_HUMAN RNA binding motif protein 10 792 mRNA processing|RNA splicing chromatin remodeling complex nucleotide binding|RNA binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 48 TGAGATTCACCGGCGAGCCCA 0.572000 6 22 0 0 0.001984 0 0 LINC01158 100506421 broad.mit.edu 37 2 105440887 105440889 + RNA DEL GTA GTA - TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr2:105440887_105440889delGTA ENST00000458253.1 - 0 147 AC018730.1_ENST00000443988.1_RNA|AC018730.1_ENST00000447876.1_RNA|AC018730.1_ENST00000413121.1_RNA|AC018730.1_ENST00000454729.1_RNA ggtggtggtggtagtgatggtgg 0.591 2 4 --- --- --- --- ZAN 7455 broad.mit.edu 37 7 100345610 100345611 + RNA INS - - AA rs71686325 TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr7:100345610_100345611insAA ENST00000542585.1 + 0 1171 ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) gcaagactctgaaaaaaaaaaa 0.505 3 3 --- --- --- --- AP003068.18 0 broad.mit.edu 37 11 64943050 64943050 + RNA DEL T T - TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr11:64943050delT ENST00000534819.1 - 0 891 gcccggctaattttttttttg 0.522 2 4 --- --- --- --- SRP54-AS1 100506157 broad.mit.edu 37 14 35390295 35390296 + RNA INS - - T rs113610910 TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr14:35390295_35390296insT ENST00000556355.1 - 0 524 CACATATTGCAttttttttttt 0.436 3 3 --- --- --- --- AC009878.2 0 broad.mit.edu 37 15 26654871 26654871 + RNA DEL A A - rs113031284 TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr15:26654871delA ENST00000451579.1 + 0 173 acttcatctcaaaaaaaaaaa 0.458 4 5 --- --- --- --- PRSS54 221191 broad.mit.edu 37 16 58319891 58319892 + Frame_Shift_Del DEL GT GT - TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr16:58319891_58319892delGT ENST00000219301.4 - 5 865_866 c.471_472delAC c.(469-474)accafs p.TP157fs PRSS54_ENST00000567164.1_Frame_Shift_Del_p.TP157fs|PRSS54_ENST00000543437.1_Frame_Shift_Del_p.TP58fs NM_001080492.1 NP_001073961.1 Q6PEW0 PRS54_HUMAN protease, serine, 54 157 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 AAGACTGGTGGTGTATGCAGCA 0.545 7 93 --- --- --- --- MIR520H 574493 broad.mit.edu 37 19 54245839 54245840 + RNA INS - - GT rs111745142 TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr19:54245839_54245840insGT ENST00000385126.1 + 0 74_75 NR_030215.1 TTCCCTTTAGAGTTACTGTTTG 0.421 7 39 --- --- --- ---