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 SCRIB 23513 broad.mit.edu 37 8 144895083 144895083 + Missense_Mutation SNP G G C TCGA-SY-A9G0-01A-12D-A38G-08 TCGA-SY-A9G0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96624006-b7b9-4f04-b31d-8132ea22f7e9 923f6353-020c-437c-961f-dfbe7516bfe4 g.chr8:144895083G>C ENST00000356994.2 - 8 697 c.691C>G c.(691-693)Cgg>Ggg p.R231G SCRIB_ENST00000377533.3_Missense_Mutation_p.R150G|SCRIB_ENST00000320476.3_Missense_Mutation_p.R231G NM_182706.4 NP_874365 Q14160 SCRIB_HUMAN scribbled planar cell polarity protein 231 Sufficient for targeting to adherens junction and to inhibit cell proliferation. activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction cell-cell adherens junction|Scrib-APC-beta-catenin complex protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 42 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) TCCTCCAGCCGGTTTTCCGAC 0.682000 7 15 0 0 1 0 0 SPC25 57405 broad.mit.edu 37 2 169732593 169732593 + Missense_Mutation SNP C C T TCGA-SY-A9G0-01A-12D-A38G-08 TCGA-SY-A9G0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96624006-b7b9-4f04-b31d-8132ea22f7e9 923f6353-020c-437c-961f-dfbe7516bfe4 g.chr2:169732593C>T ENST00000282074.2 - 5 581 c.440G>A c.(439-441)cGa>cAa p.R147Q NM_020675.3 NP_065726.1 Q9HBM1 SPC25_HUMAN SPC25, NDC80 kinetochore complex component 147 Interaction with the C-terminus of SPBC24. cell division|chromosome segregation|mitotic prometaphase|mitotic spindle organization condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus protein binding central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1) 9 ATAAATTTTTCGAATTTCTAG 0.284000 3 22 0 0 1 0 0 NEK2 4751 broad.mit.edu 37 1 211844577 211844577 + Missense_Mutation SNP A A C TCGA-SY-A9G0-01A-12D-A38G-08 TCGA-SY-A9G0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96624006-b7b9-4f04-b31d-8132ea22f7e9 923f6353-020c-437c-961f-dfbe7516bfe4 g.chr1:211844577A>C ENST00000366999.4 - 4 743 c.605T>G c.(604-606)tTg>tGg p.L202W NEK2_ENST00000540251.1_Missense_Mutation_p.L159W|NEK2_ENST00000366998.3_Missense_Mutation_p.L202W|NEK2_ENST00000462283.1_5'UTR NM_002497.3 NP_002488.1 P51955 NEK2_HUMAN NIMA-related kinase 2 202 Protein kinase. cell division|centrosome separation|G2/M transition of mitotic cell cycle|meiosis|protein autophosphorylation|regulation of mitosis centrosome|condensed chromosome kinetochore|cytosol|nucleolus ATP binding|metal ion binding|protein binding|protein phosphatase binding|protein serine/threonine kinase activity breast(2)|stomach(1) 3 OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546) CAAGCAGCCCAATGACCAGAT 0.378000 12 54 0 0 1 0 0 TUBGCP6 85378 broad.mit.edu 37 22 50659567 50659567 + Missense_Mutation SNP T T C TCGA-SY-A9G0-01A-12D-A38G-08 TCGA-SY-A9G0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96624006-b7b9-4f04-b31d-8132ea22f7e9 923f6353-020c-437c-961f-dfbe7516bfe4 g.chr22:50659567T>C ENST00000439308.2 - 16 3713 c.3221A>G c.(3220-3222)cAg>cGg p.Q1074R TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000248846.5_Missense_Mutation_p.Q1074R NM_020461.3 NP_065194.2 Q96RT7 GCP6_HUMAN tubulin, gamma complex associated protein 6 1074 9 X 27 AA tandem repeats. G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2) 45 all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21) CCACCGTGGCTGGGTGGGAGC 0.607000 4 179 0 0 1 0 0 PCDHA9 9752 broad.mit.edu 37 5 140229589 140229589 + Silent SNP G G A TCGA-SY-A9G0-01A-12D-A38G-08 TCGA-SY-A9G0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96624006-b7b9-4f04-b31d-8132ea22f7e9 923f6353-020c-437c-961f-dfbe7516bfe4 g.chr5:140229589G>A ENST00000378122.3 + 1 2233 c.1509G>A c.(1507-1509)tcG>tcA p.S503S PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Silent_p.S503S|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron NM_014005.3 NP_054724.1 p.S503S(2) breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 59 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGAGCGCTCGCTGTCGAGCT 0.672000 27 142 0 0 1 0 0 GNA13 10672 broad.mit.edu 37 17 63010910 63010910 + Missense_Mutation SNP C C G TCGA-SY-A9G0-01A-12D-A38G-08 TCGA-SY-A9G0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96624006-b7b9-4f04-b31d-8132ea22f7e9 923f6353-020c-437c-961f-dfbe7516bfe4 g.chr17:63010910C>G ENST00000439174.2 - 4 844 c.599G>C c.(598-600)aGa>aCa p.R200T GNA13_ENST00000541118.1_Missense_Mutation_p.R105T NM_006572.4 NP_006563.2 Q14344 GNA13_HUMAN guanine nucleotide binding protein (G protein), alpha 13 200 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction brush border membrane|heterotrimeric G-protein complex|melanosome D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding p.R200K(1) breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1) 34 GGTGGGTCTTCTGGCAAGCAG 0.358000 4 44 0 0 1 0 0 B4GALT2 8704 broad.mit.edu 37 1 44456007 44456007 + Missense_Mutation SNP C C T rs147797915 TCGA-SY-A9G0-01A-12D-A38G-08 TCGA-SY-A9G0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96624006-b7b9-4f04-b31d-8132ea22f7e9 923f6353-020c-437c-961f-dfbe7516bfe4 g.chr1:44456007C>T ENST00000356836.6 + 7 1796 c.1006C>T c.(1006-1008)Cgg>Tgg p.R336W B4GALT2_ENST00000309519.7_Missense_Mutation_p.R365W|B4GALT2_ENST00000372324.1_Missense_Mutation_p.R336W|B4GALT2_ENST00000434555.2_Missense_Mutation_p.R270W NM_001005417.2|NM_030587.2 NP_001005417.1|NP_085076.2 O60909 B4GT2_HUMAN UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2 336 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 17 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) N-Acetyl-D-glucosamine(DB00141) GACCATGAAGCGGGACGGCAT 0.498000 4 245 0 0 1 0 0 KIF1A 547 broad.mit.edu 37 2 241709104 241709104 + Missense_Mutation SNP G G C TCGA-SY-A9G0-01A-12D-A38G-08 TCGA-SY-A9G0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96624006-b7b9-4f04-b31d-8132ea22f7e9 923f6353-020c-437c-961f-dfbe7516bfe4 g.chr2:241709104G>C ENST00000498729.2 - 16 1607 c.1361C>G c.(1360-1362)gCt>gGt p.A454G KIF1A_ENST00000320389.7_Missense_Mutation_p.A445G NM_001244008.1 NP_001230937.1 Q12756 KIF1A_HUMAN kinesin family member 1A 445 anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 66 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) ATTGAGCTCAGCTATGATCTT 0.612000 10 29 0 0 1 0 0 TAF2 6873 broad.mit.edu 37 8 120816152 120816152 + Missense_Mutation SNP G G T TCGA-SY-A9G0-01A-12D-A38G-08 TCGA-SY-A9G0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96624006-b7b9-4f04-b31d-8132ea22f7e9 923f6353-020c-437c-961f-dfbe7516bfe4 g.chr8:120816152G>T ENST00000378164.2 - 5 824 c.526C>A c.(526-528)Cat>Aat p.H176N NM_003184.3 NP_003175 Q6P1X5 TAF2_HUMAN TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa 176 G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor TFIID complex|transcription factor TFTC complex metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 49 Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) GAGAAAACATGAGCACCTCTC 0.348000 5 166 0.217242 0.217242 1 1 0 SLC8A2 6543 broad.mit.edu 37 19 47969386 47969386 + Missense_Mutation SNP C C T TCGA-SY-A9G0-01A-12D-A38G-08 TCGA-SY-A9G0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96624006-b7b9-4f04-b31d-8132ea22f7e9 923f6353-020c-437c-961f-dfbe7516bfe4 g.chr19:47969386C>T ENST00000236877.6 - 2 670 c.275G>A c.(274-276)cGt>cAt p.R92H SLC8A2_ENST00000542837.1_Intron|SLC8A2_ENST00000539381.1_Intron NM_015063.2 NP_055878.1 Q9UPR5 NAC2_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 2 92 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1) 31 all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173) OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457) CGCCATGAAACGGTCGGCGAT 0.587000 6 106 0 0 1 0 0 NDUFAF4 29078 broad.mit.edu 37 6 97344707 97344707 + Silent SNP T T C TCGA-SY-A9G0-01A-12D-A38G-08 TCGA-SY-A9G0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96624006-b7b9-4f04-b31d-8132ea22f7e9 923f6353-020c-437c-961f-dfbe7516bfe4 g.chr6:97344707T>C ENST00000316149.7 - 2 232 c.153A>G c.(151-153)aaA>aaG p.K51K NDUFAF4_ENST00000489477.1_5'UTR NM_014165.3 NP_054884.1 Q9P032 NDUF4_HUMAN NADH dehydrogenase (ubiquinone) complex I, assembly factor 4 51 mitochondrial respiratory chain complex I assembly mitochondrial membrane calmodulin binding large_intestine(5)|lung(3)|ovary(1)|skin(1) 10 CAATCTCTCCTTTAACTTCTG 0.348000 7 41 0 0 1 0 0 EEF1B2 1933 broad.mit.edu 37 2 207025366 207025366 + Silent SNP G G A TCGA-SY-A9G0-01A-12D-A38G-08 TCGA-SY-A9G0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96624006-b7b9-4f04-b31d-8132ea22f7e9 923f6353-020c-437c-961f-dfbe7516bfe4 g.chr2:207025366G>A ENST00000392222.2 + 2 510 c.135G>A c.(133-135)ccG>ccA p.P45P EEF1B2_ENST00000392221.1_Silent_p.P45P|EEF1B2_ENST00000236957.5_Silent_p.P45P NM_001959.3 NP_001950.1 P24534 EF1B_HUMAN eukaryotic translation elongation factor 1 beta 2 45 GST C-terminal. cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity p.P45P(5) breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6) 16 CCAGCCCACCGCCTGCCGACT 0.448000 4 77 0 0 1 0 0 C2CD3 26005 broad.mit.edu 37 11 73809142 73809142 + Missense_Mutation SNP C C G TCGA-SY-A9G0-01A-12D-A38G-08 TCGA-SY-A9G0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96624006-b7b9-4f04-b31d-8132ea22f7e9 923f6353-020c-437c-961f-dfbe7516bfe4 g.chr11:73809142C>G ENST00000334126.7 - 16 3117 c.2891G>C c.(2890-2892)aGa>aCa p.R964T C2CD3_ENST00000313663.7_Missense_Mutation_p.R964T Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 964 centrosome NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3) 64 Breast(11;4.16e-06) ATTCTTTAATCTTTGTAGTGC 0.448000 7 76 0 0 1 0 0 IP6K3 117283 broad.mit.edu 37 6 33694544 33694544 + Missense_Mutation SNP G G A TCGA-SY-A9G0-01A-12D-A38G-08 TCGA-SY-A9G0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96624006-b7b9-4f04-b31d-8132ea22f7e9 923f6353-020c-437c-961f-dfbe7516bfe4 g.chr6:33694544G>A ENST00000451316.1 - 5 1088 c.553C>T c.(553-555)Cgc>Tgc p.R185C IP6K3_ENST00000293756.4_Missense_Mutation_p.R185C NM_001142883.1 NP_001136355.1 Q96PC2 IP6K3_HUMAN inositol hexakisphosphate kinase 3 185 inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation cytoplasm ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity skin(1) 1 GAGCACAGGCGGGTCAGGTGG 0.622000 8 43 0 0 1 0 0 PIK3C2G 5288 broad.mit.edu 37 12 18544155 18544155 + Missense_Mutation SNP G G T TCGA-SY-A9G0-01A-12D-A38G-08 TCGA-SY-A9G0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96624006-b7b9-4f04-b31d-8132ea22f7e9 923f6353-020c-437c-961f-dfbe7516bfe4 g.chr12:18544155G>T ENST00000433979.1 + 14 2088 c.1972G>T c.(1972-1974)Gcc>Tcc p.A658S PIK3C2G_ENST00000538779.1_Missense_Mutation_p.A699S|PIK3C2G_ENST00000266497.5_Missense_Mutation_p.A658S NM_004570.4 NP_004561.3 O75747 P3C2G_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma 658 cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 66 Hepatocellular(102;0.194) AAAACATATTGCCAGACTTTC 0.388000 3 28 0.004672 0.00477699 1 1 0 ZNF540 163255 broad.mit.edu 37 19 38102883 38102883 + Missense_Mutation SNP G G C TCGA-SY-A9G0-01A-12D-A38G-08 TCGA-SY-A9G0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96624006-b7b9-4f04-b31d-8132ea22f7e9 923f6353-020c-437c-961f-dfbe7516bfe4 g.chr19:38102883G>C ENST00000592533.1 + 5 1034 c.702G>C c.(700-702)caG>caC p.Q234H ZNF540_ENST00000589117.1_Missense_Mutation_p.Q202H|ZNF540_ENST00000316433.4_Missense_Mutation_p.Q234H|ZNF540_ENST00000343599.5_Missense_Mutation_p.Q234H NM_152606.4 NP_689819.1 zinc finger protein 540 breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1) 28 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CTCTGCATCAGAGATTTCATA 0.368000 10 38 0 0 1 0 0 ADCY2 108 broad.mit.edu 37 5 7784525 7784525 + Missense_Mutation SNP C C A TCGA-SY-A9G0-01A-12D-A38G-08 TCGA-SY-A9G0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96624006-b7b9-4f04-b31d-8132ea22f7e9 923f6353-020c-437c-961f-dfbe7516bfe4 g.chr5:7784525C>A ENST00000338316.4 + 19 2521 c.2432C>A c.(2431-2433)tCt>tAt p.S811Y ADCY2_ENST00000537121.1_Missense_Mutation_p.S631Y NM_020546.2 NP_065433.2 Q08462 ADCY2_HUMAN adenylate cyclase 2 (brain) 811 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|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 119 GTGTCTCTCTCTATATTCTTC 0.378000 6 83 0.0293803 0.0297068 1 1 0 PCDHGA6 56109 broad.mit.edu 37 5 140755394 140755394 + Missense_Mutation SNP G G A TCGA-SY-A9G0-01A-12D-A38G-08 TCGA-SY-A9G0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96624006-b7b9-4f04-b31d-8132ea22f7e9 923f6353-020c-437c-961f-dfbe7516bfe4 g.chr5:140755394G>A ENST00000517434.1 + 1 1744 c.1744G>A c.(1744-1746)Gca>Aca p.A582T PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron NM_018919.2|NM_032086.1 NP_061742.1|NP_114475.1 breast(1)|large_intestine(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCCCGCTCCGCAGAGCCCGG 0.672000 22 133 0 0 1 0 0 ABR 29 broad.mit.edu 37 17 961237 961237 + Missense_Mutation SNP C C G TCGA-SY-A9G0-01A-12D-A38G-08 TCGA-SY-A9G0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96624006-b7b9-4f04-b31d-8132ea22f7e9 923f6353-020c-437c-961f-dfbe7516bfe4 g.chr17:961237C>G ENST00000544583.2 - 12 1815 c.1216G>C c.(1216-1218)Gaa>Caa p.E406Q ABR_ENST00000574437.1_Missense_Mutation_p.E406Q|ABR_ENST00000302538.5_Missense_Mutation_p.E452Q|ABR_ENST00000291107.2_Missense_Mutation_p.E415Q|ABR_ENST00000536794.2_Missense_Mutation_p.E234Q|ABR_ENST00000573895.1_5'UTR NM_001159746.2 NP_001153218.1 Q12979 ABR_HUMAN active BCR-related 452 PH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 UCEC - Uterine corpus endometrioid carcinoma (25;0.0228) TGAATTGCTTCTCTCCACTCT 0.478000 5 58 0 0 1 0 0 ANKHD1 54882 broad.mit.edu 37 5 139908519 139908519 + Silent SNP C C T TCGA-SY-A9G0-01A-12D-A38G-08 TCGA-SY-A9G0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96624006-b7b9-4f04-b31d-8132ea22f7e9 923f6353-020c-437c-961f-dfbe7516bfe4 g.chr5:139908519C>T ENST00000297183.6 + 29 6112 c.5988C>T c.(5986-5988)agC>agT p.S1996S ANKHD1_ENST00000544120.1_Silent_p.S379S|ANKHD1_ENST00000360839.2_Silent_p.S1996S|ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.S1996S NM_020690.5 NP_065741.3 ankyrin repeat and KH domain containing 1 breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTATCACTAGCGGGCAAGCTC 0.493000 24 105 0 0 1 0 0 MAP3K4 4216 broad.mit.edu 37 6 161491786 161491786 + Silent SNP T T G TCGA-SY-A9G0-01A-12D-A38G-08 TCGA-SY-A9G0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96624006-b7b9-4f04-b31d-8132ea22f7e9 923f6353-020c-437c-961f-dfbe7516bfe4 g.chr6:161491786T>G ENST00000392142.4 + 4 2002 c.1854T>G c.(1852-1854)gtT>gtG p.V618V MAP3K4_ENST00000348824.7_Silent_p.V618V|MAP3K4_ENST00000366919.2_Silent_p.V618V|MAP3K4_ENST00000366920.2_Silent_p.V618V NM_005922.2 NP_005913 Q9Y6R4 M3K4_HUMAN mitogen-activated protein kinase kinase kinase 4 618 activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1) 77 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) CCTTCCTAGTTCTCTGCCGAG 0.478000 3 30 0 0 1 0 0 CHL1 10752 broad.mit.edu 37 3 430987 430987 + Nonsense_Mutation SNP G G A TCGA-SY-A9G0-01A-12D-A38G-08 TCGA-SY-A9G0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96624006-b7b9-4f04-b31d-8132ea22f7e9 923f6353-020c-437c-961f-dfbe7516bfe4 g.chr3:430987G>A ENST00000256509.2 + 20 2942 c.2300G>A c.(2299-2301)tGg>tAg p.W767* CHL1_ENST00000397491.2_Nonsense_Mutation_p.W751* NM_001253387.1|NM_001253388.1|NM_006614.3 NP_001240316.1|NP_001240317.1|NP_006605.2 O00533 CHL1_HUMAN cell adhesion molecule L1-like 751 Fibronectin type-III 2. axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1) 93 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) agagtgacctggaAGCCACAG 0.498000 3 19 0 0 1 0 0 ERI1 90459 broad.mit.edu 37 8 8865558 8865558 + Missense_Mutation SNP G G A TCGA-SY-A9G0-01A-12D-A38G-08 TCGA-SY-A9G0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96624006-b7b9-4f04-b31d-8132ea22f7e9 923f6353-020c-437c-961f-dfbe7516bfe4 g.chr8:8865558G>A ENST00000523898.1 + 3 866 c.187G>A c.(187-189)Gac>Aac p.D63N ERI1_ENST00000250263.7_Missense_Mutation_p.D63N|ERI1_ENST00000519292.1_Missense_Mutation_p.D63N Q8IV48 ERI1_HUMAN exoribonuclease 1 63 gene silencing by RNA|rRNA 3'-end processing cytoplasm|histone pre-mRNA 3'end processing complex|nucleolus 3'-5' exonuclease activity|histone pre-mRNA stem-loop binding|metal ion binding|ribosome binding|rRNA binding NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1) 11 Adenosine monophosphate(DB00131) TGACTTCAGTGACCCGGTTTA 0.378000 5 55 0 0 1 0 0 GAD2 2572 broad.mit.edu 37 10 26534903 26534903 + Silent SNP C C T TCGA-SY-A9G0-01A-12D-A38G-08 TCGA-SY-A9G0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96624006-b7b9-4f04-b31d-8132ea22f7e9 923f6353-020c-437c-961f-dfbe7516bfe4 g.chr10:26534903C>T ENST00000376261.3 + 8 1397 c.894C>T c.(892-894)agC>agT p.S298S GAD2_ENST00000259271.3_Silent_p.S298S NM_001134366.1 NP_001127838.1 Q05329 DCE2_HUMAN glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) 298 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 L-Glutamic Acid(DB00142) GAACAGACAGCGTGATTCTGA 0.388000 3 43 0 0 1 0 0 MIA3 375056 broad.mit.edu 37 1 222802358 222802358 + Missense_Mutation SNP C C G TCGA-SY-A9G0-01A-12D-A38G-08 TCGA-SY-A9G0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96624006-b7b9-4f04-b31d-8132ea22f7e9 923f6353-020c-437c-961f-dfbe7516bfe4 g.chr1:222802358C>G ENST00000344922.5 + 4 1821 c.1796C>G c.(1795-1797)gCt>gGt p.A599G MIA3_ENST00000344507.1_Intron|MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344441.6_Missense_Mutation_p.A599G NM_198551.2 NP_940953.2 Q5JRA6 MIA3_HUMAN melanoma inhibitory activity family, member 3 599 exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing endoplasmic reticulum membrane|integral to membrane protein binding breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1) 80 GBM - Glioblastoma multiforme(131;0.0199) GAGGGAGACGCTTTGGTAAAT 0.463000 10 85 0 0 1 0 0 HMHB1 57824 broad.mit.edu 37 5 143200100 143200100 + Silent SNP G G C TCGA-SY-A9G0-01A-12D-A38G-08 TCGA-SY-A9G0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96624006-b7b9-4f04-b31d-8132ea22f7e9 923f6353-020c-437c-961f-dfbe7516bfe4 g.chr5:143200100G>C ENST00000289448.2 + 2 200 c.93G>C c.(91-93)ctG>ctC p.L31L CTB-57H20.1_ENST00000503323.1_RNA NM_021182.1 NP_067005 O97980 HMHB1_HUMAN histocompatibility (minor) HB-1 31 Acute lymphoblastic leukemia(2;0.0236)|all_hematologic(2;0.041) KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176) ATGTGTATCTGAGGCACAGCT 0.448000 22 112 0 0 1 0 0 TYRO3 7301 broad.mit.edu 37 15 41856423 41856423 + Missense_Mutation SNP C C A TCGA-SY-A9G0-01A-12D-A38G-08 TCGA-SY-A9G0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96624006-b7b9-4f04-b31d-8132ea22f7e9 923f6353-020c-437c-961f-dfbe7516bfe4 g.chr15:41856423C>A ENST00000263798.3 + 5 846 c.622C>A c.(622-624)Cta>Ata p.L208I TYRO3_ENST00000559066.1_Missense_Mutation_p.L163I NM_006293.3 NP_006284.2 Q06418 TYRO3_HUMAN TYRO3 protein tyrosine kinase 208 Ig-like C2-type 2. integral to plasma membrane ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1) 43 all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117) AGCTCACAACCTAAAAGGCCT 0.602000 7 96 5.18039e-06 5.41857e-06 1 1 0 SGPL1 8879 broad.mit.edu 37 10 72631732 72631732 + Missense_Mutation SNP G G A TCGA-SY-A9G0-01A-12D-A38G-08 TCGA-SY-A9G0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96624006-b7b9-4f04-b31d-8132ea22f7e9 923f6353-020c-437c-961f-dfbe7516bfe4 g.chr10:72631732G>A ENST00000373202.3 + 11 1248 c.1048G>A c.(1048-1050)Gac>Aac p.D350N NM_003901.3 NP_003892.2 O95470 SGPL1_HUMAN sphingosine-1-phosphate lyase 1 350 apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process integral to endoplasmic reticulum membrane carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity large_intestine(4) 4 Pyridoxal Phosphate(DB00114) CATTTCAGCTGACACCCATAA 0.423000 5 74 0 0 1 0 0 HERC2P3 283755 broad.mit.edu 37 15 20644850 20644850 + RNA SNP G G A TCGA-SY-A9G0-01A-12D-A38G-08 TCGA-SY-A9G0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96624006-b7b9-4f04-b31d-8132ea22f7e9 923f6353-020c-437c-961f-dfbe7516bfe4 g.chr15:20644850G>A ENST00000428453.1 - 0 3097 p.A803V(4) central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 CATGTCCCTCGCCCTTTCGGT 0.463000 4 47 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135429265 135429265 + Missense_Mutation SNP G G A TCGA-SY-A9G0-01A-12D-A38G-08 TCGA-SY-A9G0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96624006-b7b9-4f04-b31d-8132ea22f7e9 923f6353-020c-437c-961f-dfbe7516bfe4 g.chrX:135429265G>A ENST00000394143.1 + 6 3691 c.3400G>A c.(3400-3402)Gat>Aat p.D1134N GPR112_ENST00000370652.1_Missense_Mutation_p.D1134N|GPR112_ENST00000412101.1_Missense_Mutation_p.D929N|GPR112_ENST00000287534.4_Missense_Mutation_p.D1071N|GPR112_ENST00000394141.1_Missense_Mutation_p.D929N NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 1134 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) TACCTCAGTTGATACAGTAAC 0.488000 15 43 0 0 1 0 0 GDA 9615 broad.mit.edu 37 9 74842873 74842873 + Silent SNP C C T TCGA-SY-A9G0-01A-12D-A38G-08 TCGA-SY-A9G0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96624006-b7b9-4f04-b31d-8132ea22f7e9 923f6353-020c-437c-961f-dfbe7516bfe4 g.chr9:74842873C>T ENST00000358399.3 + 9 930 c.837C>T c.(835-837)caC>caT p.H279H GDA_ENST00000477618.1_3'UTR|GDA_ENST00000545168.1_Silent_p.H205H|GDA_ENST00000376989.3_Silent_p.H218H|GDA_ENST00000238018.4_Silent_p.H279H|GDA_ENST00000376986.1_Silent_p.H201H NM_001242505.2|NM_001242506.2|NM_004293.4 NP_001229434.1|NP_001229435.1|NP_004284.1 Q9Y2T3 GUAD_HUMAN guanine deaminase 279 nervous system development|purine base metabolic process|purine nucleotide catabolic process cytosol guanine deaminase activity|zinc ion binding central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1) 32 Myeloproliferative disorder(762;0.0122) Lung(182;0.0583) TGATGGCACACGGCTGCTACC 0.458000 4 31 0 0 1 0 0 TYRP1 7306 broad.mit.edu 37 9 12695751 12695751 + Translation_Start_Site SNP T T A TCGA-SY-A9G0-01A-12D-A38G-08 TCGA-SY-A9G0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96624006-b7b9-4f04-b31d-8132ea22f7e9 923f6353-020c-437c-961f-dfbe7516bfe4 g.chr9:12695751T>A ENST00000381137.2 + 0 800 TYRP1_ENST00000381136.2_De_novo_Start_OutOfFrame|TYRP1_ENST00000388918.5_Missense_Mutation_p.F208I P17643 TYRP1_HUMAN tyrosinase-related protein 1 melanin biosynthetic process clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1) 22 all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744) GBM - Glioblastoma multiforme(50;9.85e-06) ACAGGAAAGCTTTGGTGAAGT 0.438000 Oculocutaneous Albinism 5 55 0 0 1 0 0 TPTE 7179 broad.mit.edu 37 21 10944669 10944669 + Splice_Site SNP T T C TCGA-SY-A9G0-01A-12D-A38G-08 TCGA-SY-A9G0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96624006-b7b9-4f04-b31d-8132ea22f7e9 923f6353-020c-437c-961f-dfbe7516bfe4 g.chr21:10944669T>C ENST00000298232.7 - 10 878 c.511A>G c.(511-513)Aga>Gga p.R171G TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Splice_Site_p.R151G|TPTE_ENST00000361285.4_Splice_Site_p.R189G NM_199259.2 NP_954868 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 189 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GTTTCATACCTGGGAATATTC 0.289000 17 231 0 0 1 0 0 UBB 7314 broad.mit.edu 37 17 16285560 16285560 + Silent SNP T T C TCGA-SY-A9G0-01A-12D-A38G-08 TCGA-SY-A9G0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96624006-b7b9-4f04-b31d-8132ea22f7e9 923f6353-020c-437c-961f-dfbe7516bfe4 g.chr17:16285560T>C ENST00000302182.3 + 2 731 c.339T>C c.(337-339)ccT>ccC p.P113P UBB_ENST00000578649.1_Intron|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000395839.1_Silent_p.P113P|UBB_ENST00000395837.1_Silent_p.P113P|UBB_ENST00000535788.1_Intron NM_001281720.1|NM_018955.3 NP_001268649.1|NP_061828.1 P0CG47 UBB_HUMAN ubiquitin B 113 Ubiquitin-like 2. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822) AAGGCATCCCTCCCGACCAGC 0.557000 4 101 0 0 1 0 0 ZBTB46 140685 broad.mit.edu 37 20 62407302 62407302 + Silent SNP G G A TCGA-SY-A9G0-01A-12D-A38G-08 TCGA-SY-A9G0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96624006-b7b9-4f04-b31d-8132ea22f7e9 923f6353-020c-437c-961f-dfbe7516bfe4 g.chr20:62407302G>A ENST00000245663.4 - 3 1101 c.951C>T c.(949-951)tcC>tcT p.S317S ZBTB46_ENST00000302995.2_Silent_p.S317S|ZBTB46_ENST00000395104.1_Silent_p.S317S NM_025224.3 NP_079500.2 Q86UZ6 ZBT46_HUMAN zinc finger and BTB domain containing 46 317 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 24 all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09) CTTCGGTGACGGACAGGTCCG 0.617000 4 52 0 0 1 0 0 KRT28 162605 broad.mit.edu 37 17 38950178 38950178 + Missense_Mutation SNP C C T TCGA-SY-A9G0-01A-12D-A38G-08 TCGA-SY-A9G0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96624006-b7b9-4f04-b31d-8132ea22f7e9 923f6353-020c-437c-961f-dfbe7516bfe4 g.chr17:38950178C>T ENST00000306658.7 - 6 1164 c.1099G>A c.(1099-1101)Gag>Aag p.E367K NM_181535.3 NP_853513.2 Q7Z3Y7 K1C28_HUMAN keratin 28 367 Coil 2.|Rod. cytoplasm|intermediate filament structural molecule activity NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 30 Breast(137;0.000301) TTCTGGCCCTCGGTCTCGGTT 0.552000 16 131 0 0 1 0 0 FGFR2 2263 broad.mit.edu 37 10 123239508 123239508 + Missense_Mutation SNP C C T TCGA-SY-A9G0-01A-12D-A38G-08 TCGA-SY-A9G0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96624006-b7b9-4f04-b31d-8132ea22f7e9 923f6353-020c-437c-961f-dfbe7516bfe4 g.chr10:123239508C>T ENST00000358487.5 - 18 2601 c.2329G>A c.(2329-2331)Gaa>Aaa p.E777K FGFR2_ENST00000357555.5_Intron|FGFR2_ENST00000369061.4_Missense_Mutation_p.E665K|FGFR2_ENST00000478859.1_Missense_Mutation_p.E549K|FGFR2_ENST00000346997.2_Missense_Mutation_p.E775K|FGFR2_ENST00000369060.4_Missense_Mutation_p.E661K|FGFR2_ENST00000356226.4_Missense_Mutation_p.E660K|FGFR2_ENST00000369059.1_Missense_Mutation_p.E663K|FGFR2_ENST00000457416.2_Missense_Mutation_p.E778K NM_000141.4 NP_000132.3 P21802 FGFR2_HUMAN fibroblast growth factor receptor 2 777 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 p.E777K(1)|p.E778*(1) 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) GAATACTGTTCGAGAGGTTGG 0.453000 5 Mis """gastric. NSCLC, endometrial""" """Crouzon, Pfeiffer, and Apert syndromes""" Saethre-Chotzen syndrome;Apert syndrome 11 109 0 0 1 0 0 OR4C46 119749 broad.mit.edu 37 11 51515722 51515722 + Nonsense_Mutation SNP G G A TCGA-SY-A9G0-01A-12D-A38G-08 TCGA-SY-A9G0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96624006-b7b9-4f04-b31d-8132ea22f7e9 923f6353-020c-437c-961f-dfbe7516bfe4 g.chr11:51515722G>A ENST00000328188.1 + 1 441 c.441G>A c.(439-441)tgG>tgA p.W147* NM_001004703.1 NP_001004703.1 A6NHA9 O4C46_HUMAN olfactory receptor, family 4, subfamily C, member 46 147 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 48 GAGTGGTGTGGATGGGAGGCT 0.463000 19 86 0 0 1 0 0 OR4K14 122740 broad.mit.edu 37 14 20482734 20482734 + Missense_Mutation SNP G G T TCGA-SY-A9G0-01A-12D-A38G-08 TCGA-SY-A9G0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96624006-b7b9-4f04-b31d-8132ea22f7e9 923f6353-020c-437c-961f-dfbe7516bfe4 g.chr14:20482734G>T ENST00000305045.2 - 1 618 c.619C>A c.(619-621)Ctt>Att p.L207I NM_001004712.1 NP_001004712.1 Q8NGD5 OR4KE_HUMAN olfactory receptor, family 4, subfamily K, member 14 207 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6) 37 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2e-06) GBM - Glioblastoma multiforme(265;0.00124) CTCAAGGAAAGCAACCCACTG 0.507000 3 25 0.004672 0.00477699 1 1 0 KRTAP21-1 337977 broad.mit.edu 37 21 32127620 32127620 + Missense_Mutation SNP C C T TCGA-SY-A9G0-01A-12D-A38G-08 TCGA-SY-A9G0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96624006-b7b9-4f04-b31d-8132ea22f7e9 923f6353-020c-437c-961f-dfbe7516bfe4 g.chr21:32127620C>T ENST00000335093.3 - 1 126 c.77G>A c.(76-78)tGt>tAt p.C26Y NM_181619.1 NP_853650.1 Q3LI58 KR211_HUMAN keratin associated protein 21-1 26 intermediate filament breast(1)|endometrium(1)|lung(4)|urinary_tract(1) 7 gccacagccacagccagagcc 0.542000 4 103 0 0 1 0 0 FBXO40 51725 broad.mit.edu 37 3 121341630 121341630 + Missense_Mutation SNP C C T TCGA-SY-A9G0-01A-12D-A38G-08 TCGA-SY-A9G0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96624006-b7b9-4f04-b31d-8132ea22f7e9 923f6353-020c-437c-961f-dfbe7516bfe4 g.chr3:121341630C>T ENST00000338040.4 + 3 1768 c.1354C>T c.(1354-1356)Cca>Tca p.P452S NM_016298.3 NP_057382.2 Q9UH90 FBX40_HUMAN F-box protein 40 452 muscle cell differentiation centrosome|nucleus ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 GBM - Glioblastoma multiforme(114;0.189) CGCTGCCACCCCAGGGGGACT 0.512000 9 57 0 0 1 0 0 BIRC3 330 broad.mit.edu 37 11 102207769 102207769 + Missense_Mutation SNP C C G TCGA-SY-A9G0-01A-12D-A38G-08 TCGA-SY-A9G0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96624006-b7b9-4f04-b31d-8132ea22f7e9 923f6353-020c-437c-961f-dfbe7516bfe4 g.chr11:102207769C>G ENST00000263464.3 + 9 4501 c.1751C>G c.(1750-1752)tCt>tGt p.S584C BIRC3_ENST00000532808.1_Missense_Mutation_p.S584C NM_001165.4 NP_001156.1 Q13489 BIRC3_HUMAN baculoviral IAP repeat containing 3 584 anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway cytoplasm|nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1) 21 all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093) Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0146) TGTGCTCCTTCTTTAAGAAAG 0.348000 T MALT1 MALT 3 36 0 0 1 0 0 SPAG5 10615 broad.mit.edu 37 17 26919030 26919030 + Missense_Mutation SNP C C G TCGA-SY-A9G0-01A-12D-A38G-08 TCGA-SY-A9G0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96624006-b7b9-4f04-b31d-8132ea22f7e9 923f6353-020c-437c-961f-dfbe7516bfe4 g.chr17:26919030C>G ENST00000321765.5 - 3 1564 c.1232G>C c.(1231-1233)aGt>aCt p.S411T NM_006461.3 NP_006452.3 Q96R06 SPAG5_HUMAN sperm associated antigen 5 411 cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization condensed chromosome kinetochore|cytoplasm|spindle pole protein binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 43 Lung NSC(42;0.00431) CTCAGAAGTACTGTGCTTGGT 0.552000 5 34 0 0 1 0 0 CYP4Z2P 163720 broad.mit.edu 37 1 47325347 47325347 + RNA SNP C C G TCGA-SY-A9G0-01A-12D-A38G-08 TCGA-SY-A9G0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96624006-b7b9-4f04-b31d-8132ea22f7e9 923f6353-020c-437c-961f-dfbe7516bfe4 g.chr1:47325347C>G ENST00000505841.1 - 0 1182 NR_002788.2 GAGCGTCCATCTGGAAAGGTA 0.428000 11 89 0 0 1 0 0 FRG1B 284802 broad.mit.edu 37 20 29628263 29628263 + Missense_Mutation SNP A A G TCGA-SY-A9G0-01A-12D-A38G-08 TCGA-SY-A9G0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96624006-b7b9-4f04-b31d-8132ea22f7e9 923f6353-020c-437c-961f-dfbe7516bfe4 g.chr20:29628263A>G ENST00000278882.3 + 6 645 c.265A>G c.(265-267)Att>Gtt p.I89V FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V|FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V p.I89V(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TAGCTGCTTTATTAGATGCAA 0.363000 4 84 0 0 1 0 0 CYP4Z2P 163720 broad.mit.edu 37 1 47325450 47325450 + RNA SNP C C T TCGA-SY-A9G0-01A-12D-A38G-08 TCGA-SY-A9G0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96624006-b7b9-4f04-b31d-8132ea22f7e9 923f6353-020c-437c-961f-dfbe7516bfe4 g.chr1:47325450C>T ENST00000505841.1 - 0 1079 NR_002788.2 GCATCTGGCTCAGGTGTTCCC 0.498000 6 46 0 0 1 0 0 UNK 85451 broad.mit.edu 37 17 73814729 73814729 + Silent SNP C C T TCGA-SY-A9G0-01A-12D-A38G-08 TCGA-SY-A9G0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96624006-b7b9-4f04-b31d-8132ea22f7e9 923f6353-020c-437c-961f-dfbe7516bfe4 g.chr17:73814729C>T ENST00000293218.3 + 12 1606 c.1606C>T c.(1606-1608)Ctg>Ttg p.L536L UNK_ENST00000589666.1_Silent_p.L460L Q9C0B0 UNK_HUMAN unkempt family zinc finger 460 nucleic acid binding|zinc ion binding cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 25 all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154) GCAGGACATGCTGGGCATCCT 0.632000 3 38 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A A G TCGA-SY-A9G0-01A-12D-A38G-08 TCGA-SY-A9G0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96624006-b7b9-4f04-b31d-8132ea22f7e9 923f6353-020c-437c-961f-dfbe7516bfe4 g.chr9:20414343A>G ENST00000380338.4 - 5 787 c.501T>C c.(499-501)agT>agC p.S167S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000355930.6_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S167S(19) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctactgctgctgc 0.532000 T MLL ALL 4 59 0 0 1 0 0 CHD6 84181 broad.mit.edu 37 20 40049239 40049239 + Silent SNP T T A TCGA-SY-A9G0-01A-12D-A38G-08 TCGA-SY-A9G0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96624006-b7b9-4f04-b31d-8132ea22f7e9 923f6353-020c-437c-961f-dfbe7516bfe4 g.chr20:40049239T>A ENST00000373233.3 - 31 6213 c.6036A>T c.(6034-6036)acA>acT p.T2012T NM_032221.3 NP_115597.3 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 2012 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) CAAGAGGATATGTGGGGAAAA 0.408000 19 54 0 0 1 0 0 BCL11A 53335 broad.mit.edu 37 2 60688739 60688739 + Silent SNP G G C rs142120696 byFrequency TCGA-SY-A9G0-01A-12D-A38G-08 TCGA-SY-A9G0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96624006-b7b9-4f04-b31d-8132ea22f7e9 923f6353-020c-437c-961f-dfbe7516bfe4 g.chr2:60688739G>C ENST00000335712.6 - 4 1535 c.1308C>G c.(1306-1308)gtC>gtG p.V436V BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000537768.1_Silent_p.V105V|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000538214.1_Silent_p.V402V|BCL11A_ENST00000358510.4_Silent_p.V402V|BCL11A_ENST00000356842.4_Silent_p.V436V NM_022893.3 NP_075044.2 Q9H165 BC11A_HUMAN B-cell CLL/lymphoma 11A (zinc finger protein) 436 negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 59 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) CGTCGGACTTGACCGTCATGG 0.647000 T IGH@ B-CLL 5 71 0 0 1 0 0 HKDC1 80201 broad.mit.edu 37 10 71026409 71026409 + Nonsense_Mutation SNP C C T TCGA-SY-A9G0-01A-12D-A38G-08 TCGA-SY-A9G0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96624006-b7b9-4f04-b31d-8132ea22f7e9 923f6353-020c-437c-961f-dfbe7516bfe4 g.chr10:71026409C>T ENST00000354624.5 + 18 2783 c.2650C>T c.(2650-2652)Cga>Tga p.R884* RP11-227H15.5_ENST00000413220.1_RNA NM_025130.3 NP_079406 Q2TB90 HKDC1_HUMAN hexokinase domain containing 1 884 glycolysis mitochondrion|nucleus ATP binding|hexokinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 ACTAGCCCCTCGATGTGATGT 0.443000 9 119 0 0 1 0 0 FAM83C 128876 broad.mit.edu 37 20 33874648 33874648 + Missense_Mutation SNP C C T TCGA-SY-A9G0-01A-12D-A38G-08 TCGA-SY-A9G0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96624006-b7b9-4f04-b31d-8132ea22f7e9 923f6353-020c-437c-961f-dfbe7516bfe4 g.chr20:33874648C>T ENST00000374408.3 - 4 2030 c.1934G>A c.(1933-1935)cGt>cAt p.R645H NM_178468.5 NP_848563.1 Q9BQN1 FA83C_HUMAN family with sequence similarity 83, member C 645 R -> C (in dbSNP:rs35518957). central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(18;0.00252) CCCCTCACCACGGAATGGGCC 0.647000 7 30 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158641928 158641928 + Missense_Mutation SNP C C T TCGA-SY-A9G0-01A-12D-A38G-08 TCGA-SY-A9G0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96624006-b7b9-4f04-b31d-8132ea22f7e9 923f6353-020c-437c-961f-dfbe7516bfe4 g.chr1:158641928C>T ENST00000368147.4 - 11 1589 c.1409G>A c.(1408-1410)cGt>cAt p.R470H NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) CTCATACTGACGATGACGCTC 0.453000 3 54 0 0 1 0 0 RNF185 91445 broad.mit.edu 37 22 31592944 31592944 + Missense_Mutation SNP C C G TCGA-SY-A9G0-01A-12D-A38G-08 TCGA-SY-A9G0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96624006-b7b9-4f04-b31d-8132ea22f7e9 923f6353-020c-437c-961f-dfbe7516bfe4 g.chr22:31592944C>G ENST00000326132.6 + 5 490 c.331C>G c.(331-333)Caa>Gaa p.Q111E RNF185_ENST00000266252.7_Intron|RNF185_ENST00000426256.2_Missense_Mutation_p.Q49E NM_152267.3 NP_689480.2 Q96GF1 RN185_HUMAN ring finger protein 185 integral to membrane zinc ion binding NS(1)|large_intestine(1)|lung(3)|skin(1) 6 TCCTCGTCCTCAAGGACAGAG 0.458000 5 31 0 0 1 0 0 PRSS1 5644 broad.mit.edu 37 7 142460811 142460811 + Silent SNP C C T TCGA-SY-A9G0-01A-12D-A38G-08 TCGA-SY-A9G0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96624006-b7b9-4f04-b31d-8132ea22f7e9 923f6353-020c-437c-961f-dfbe7516bfe4 g.chr7:142460811C>T ENST00000486171.1 + 6 743 c.726C>T c.(724-726)gtC>gtT p.V242V PRSS1_ENST00000311737.7_Silent_p.V228V P07477 TRY1_HUMAN protease, serine, 1 (trypsin 1) 228 Peptidase S1. digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2) 38 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) AGCCTGGAGTCTACACCAAGG 0.502000 4 105 0 0 1 0 0 MAP3K4 4216 broad.mit.edu 37 6 161491787 161491787 + Missense_Mutation SNP C C T TCGA-SY-A9G0-01A-12D-A38G-08 TCGA-SY-A9G0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96624006-b7b9-4f04-b31d-8132ea22f7e9 923f6353-020c-437c-961f-dfbe7516bfe4 g.chr6:161491787C>T ENST00000392142.4 + 4 2003 c.1855C>T c.(1855-1857)Ctc>Ttc p.L619F MAP3K4_ENST00000348824.7_Missense_Mutation_p.L619F|MAP3K4_ENST00000366919.2_Missense_Mutation_p.L619F|MAP3K4_ENST00000366920.2_Missense_Mutation_p.L619F NM_005922.2 NP_005913 Q9Y6R4 M3K4_HUMAN mitogen-activated protein kinase kinase kinase 4 619 activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1) 77 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) CTTCCTAGTTCTCTGCCGAGT 0.483000 3 30 0 0 1 0 0 CRYBB2 1415 broad.mit.edu 37 22 25623911 25623911 + Nonsense_Mutation SNP C C T TCGA-SY-A9G0-01A-12D-A38G-08 TCGA-SY-A9G0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96624006-b7b9-4f04-b31d-8132ea22f7e9 923f6353-020c-437c-961f-dfbe7516bfe4 g.chr22:25623911C>T ENST00000398215.2 + 4 436 c.265C>T c.(265-267)Cga>Tga p.R89* NM_000496.2 NP_000487.1 P43320 CRBB2_HUMAN crystallin, beta B2 89 Beta/gamma crystallin 'Greek key' 2. response to stimulus|visual perception structural constituent of eye lens endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1) 10 GACCAGCAGCCGAAGGACGGA 0.597000 10 65 0 0 1 0 0 SYNJ1 8867 broad.mit.edu 37 21 34004012 34004012 + Nonsense_Mutation SNP G G A TCGA-SY-A9G0-01A-12D-A38G-08 TCGA-SY-A9G0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96624006-b7b9-4f04-b31d-8132ea22f7e9 923f6353-020c-437c-961f-dfbe7516bfe4 g.chr21:34004012G>A ENST00000382491.3 - 28 3998 c.3874C>T c.(3874-3876)Cag>Tag p.Q1292* SYNJ1_ENST00000357345.3_3'UTR|SYNJ1_ENST00000322229.7_Nonsense_Mutation_p.Q1339*|SYNJ1_ENST00000382499.2_3'UTR|SYNJ1_ENST00000433931.2_Nonsense_Mutation_p.Q1378* NM_001160306.1 NP_001153778.1 O43426 SYNJ1_HUMAN synaptojanin 1 1339 Pro-rich. inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 57 ACAGATAGCTGAGCCTTTGAT 0.408000 3 51 0 0 1 0 0 DYSF 8291 broad.mit.edu 37 2 71747336 71747336 + Missense_Mutation SNP C C T TCGA-SY-A9G0-01A-12D-A38G-08 TCGA-SY-A9G0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96624006-b7b9-4f04-b31d-8132ea22f7e9 923f6353-020c-437c-961f-dfbe7516bfe4 g.chr2:71747336C>T ENST00000258104.3 + 10 1212 c.935C>T c.(934-936)cCc>cTc p.P312L DYSF_ENST00000429174.2_Missense_Mutation_p.P312L|DYSF_ENST00000410041.1_Missense_Mutation_p.P344L|DYSF_ENST00000413539.2_Missense_Mutation_p.P343L|DYSF_ENST00000409744.1_Missense_Mutation_p.P313L|DYSF_ENST00000409582.3_Missense_Mutation_p.P343L|DYSF_ENST00000409762.1_Missense_Mutation_p.P343L|DYSF_ENST00000410020.3_Missense_Mutation_p.P344L|DYSF_ENST00000394120.2_Missense_Mutation_p.P313L|DYSF_ENST00000409651.1_Missense_Mutation_p.P344L|DYSF_ENST00000409366.1_Missense_Mutation_p.P313L NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 312 cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 TACAGAGAGCCCCGTGAGTTC 0.493000 23 96 0 0 1 0 0 RHOBTB1 9886 broad.mit.edu 37 10 62645942 62645942 + Silent SNP C C T TCGA-SY-A9G0-01A-12D-A38G-08 TCGA-SY-A9G0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96624006-b7b9-4f04-b31d-8132ea22f7e9 923f6353-020c-437c-961f-dfbe7516bfe4 g.chr10:62645942C>T ENST00000337910.5 - 7 1840 c.1503G>A c.(1501-1503)ccG>ccA p.P501P RHOBTB1_ENST00000357917.4_Silent_p.P501P NM_001242359.1|NM_014836.4 NP_001229288.1|NP_055651.1 O94844 RHBT1_HUMAN Rho-related BTB domain containing 1 501 BTB 2. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 23 Prostate(12;0.0112) AGATCAGCAGCGGCTTGTGGG 0.507000 6 75 0 0 1 0 0 CCDC108 255101 broad.mit.edu 37 2 219894869 219894869 + Missense_Mutation SNP G G A TCGA-SY-A9G0-01A-12D-A38G-08 TCGA-SY-A9G0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96624006-b7b9-4f04-b31d-8132ea22f7e9 923f6353-020c-437c-961f-dfbe7516bfe4 g.chr2:219894869G>A ENST00000341552.5 - 10 1306 c.1223C>T c.(1222-1224)tCa>tTa p.S408L CCDC108_ENST00000409865.3_Missense_Mutation_p.S397L|CCDC108_ENST00000453220.1_Missense_Mutation_p.S408L|CCDC108_ENST00000410037.1_Missense_Mutation_p.S343L|CCDC108_ENST00000441968.1_Missense_Mutation_p.S408L NM_194302.2 NP_919278.2 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 408 integral to membrane structural molecule activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CGTGGGGCATGAGAAGGCCTG 0.557000 OREG0015211 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 88 0 0 1 0 0 SOCS6 9306 broad.mit.edu 37 18 67993149 67993149 + Silent SNP T T C TCGA-SY-A9G0-01A-12D-A38G-08 TCGA-SY-A9G0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96624006-b7b9-4f04-b31d-8132ea22f7e9 923f6353-020c-437c-961f-dfbe7516bfe4 g.chr18:67993149T>C ENST00000397942.3 + 2 1561 c.1245T>C c.(1243-1245)cgT>cgC p.R415R SOCS6_ENST00000582322.1_Silent_p.R415R NM_004232.3 NP_004223.2 O14544 SOCS6_HUMAN suppressor of cytokine signaling 6 415 SH2. defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth cytoplasm NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2) 22 Esophageal squamous(42;0.129)|Colorectal(73;0.152) CTGACGACCGTTACCTTTTAA 0.468000 8 61 0 0 1 0 0 NAA50 80218 broad.mit.edu 37 3 113440614 113440614 + Missense_Mutation SNP T T C TCGA-SY-A9G0-01A-12D-A38G-08 TCGA-SY-A9G0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96624006-b7b9-4f04-b31d-8132ea22f7e9 923f6353-020c-437c-961f-dfbe7516bfe4 g.chr3:113440614T>C ENST00000240922.3 - 5 827 c.503A>G c.(502-504)gAc>gGc p.D168G NAA50_ENST00000477813.1_Missense_Mutation_p.D128G|NAA50_ENST00000493454.1_Missense_Mutation_p.D94G|NAA50_ENST00000493900.1_Missense_Mutation_p.D167G|NAA50_ENST00000497255.1_Missense_Mutation_p.D57G|NAA50_ENST00000497525.1_Missense_Mutation_p.D94G NM_025146.2 NP_079422.1 Q9GZZ1 NAA50_HUMAN N(alpha)-acetyltransferase 50, NatE catalytic subunit N-terminal protein amino acid acetylation cytoplasm N-acetyltransferase activity|protein binding large_intestine(2)|lung(2)|skin(1) 5 TGTTCAGTTGTCTGTCTTTTG 0.418000 27 83 0 0 1 0 0 FAM124A 220108 broad.mit.edu 37 13 51825659 51825659 + Silent SNP C C T TCGA-SY-A9G0-01A-12D-A38G-08 TCGA-SY-A9G0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96624006-b7b9-4f04-b31d-8132ea22f7e9 923f6353-020c-437c-961f-dfbe7516bfe4 g.chr13:51825659C>T ENST00000322475.8 + 3 291 c.156C>T c.(154-156)atC>atT p.I52I FAM124A_ENST00000280057.6_Silent_p.I88I NM_001242312.1 NP_001229241.1 Q86V42 F124A_HUMAN family with sequence similarity 124A 52 breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1) 26 Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;4.25e-07) TCCACATAATCGCAGACCCAG 0.592000 6 36 0 0 1 0 0 EEF1B2 1933 broad.mit.edu 37 2 207025358 207025358 + Missense_Mutation SNP A A G TCGA-SY-A9G0-01A-12D-A38G-08 TCGA-SY-A9G0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96624006-b7b9-4f04-b31d-8132ea22f7e9 923f6353-020c-437c-961f-dfbe7516bfe4 g.chr2:207025358A>G ENST00000392222.2 + 2 502 c.127A>G c.(127-129)Agc>Ggc p.S43G EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G|EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G NM_001959.3 NP_001950.1 P24534 EF1B_HUMAN eukaryotic translation elongation factor 1 beta 2 43 GST C-terminal. cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity p.S43G(4) breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6) 16 AGCCGTGTCCAGCCCACCGCC 0.468000 4 70 0 0 1 0 0 FAM131B 9715 broad.mit.edu 37 7 143056071 143056071 + Missense_Mutation SNP C C T TCGA-SY-A9G0-01A-12D-A38G-08 TCGA-SY-A9G0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96624006-b7b9-4f04-b31d-8132ea22f7e9 923f6353-020c-437c-961f-dfbe7516bfe4 g.chr7:143056071C>T ENST00000409408.1 - 4 1939 c.231G>A c.(229-231)atG>atA p.M77I FAM131B_ENST00000409578.1_Missense_Mutation_p.M93I|FAM131B_ENST00000409222.3_Missense_Mutation_p.M77I|FAM131B_ENST00000443739.2_Missense_Mutation_p.M105I|FAM131B_ENST00000409346.1_Missense_Mutation_p.M77I Q86XD5 F131B_HUMAN family with sequence similarity 131, member B 77 breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2) 24 Melanoma(164;0.205) GGCCTTGCCCCATGGCTGTGG 0.572000 7 30 0 0 1 0 0 MICALL1 85377 broad.mit.edu 37 22 38323565 38323565 + Nonsense_Mutation SNP C C G TCGA-SY-A9G0-01A-12D-A38G-08 TCGA-SY-A9G0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96624006-b7b9-4f04-b31d-8132ea22f7e9 923f6353-020c-437c-961f-dfbe7516bfe4 g.chr22:38323565C>G ENST00000215957.6 + 9 1739 c.1613C>G c.(1612-1614)tCa>tGa p.S538* MICALL1_ENST00000402631.1_3'UTR NM_033386.3 NP_203744.1 Q8N3F8 MILK1_HUMAN MICAL-like 1 538 Pro-rich. cytoplasm|cytoskeleton protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 24 Melanoma(58;0.045) AAGAGCTCCTCAGAGCCTGCT 0.637000 11 79 0 0 1 0 0 LRRC40 55631 broad.mit.edu 37 1 70614211 70614211 + Silent SNP G G C TCGA-SY-A9G0-01A-12D-A38G-08 TCGA-SY-A9G0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96624006-b7b9-4f04-b31d-8132ea22f7e9 923f6353-020c-437c-961f-dfbe7516bfe4 g.chr1:70614211G>C ENST00000370952.3 - 14 1741 c.1662C>G c.(1660-1662)ctC>ctG p.L554L NM_017768.4 NP_060238.3 Q9H9A6 LRC40_HUMAN leucine rich repeat containing 40 554 breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2) 27 GAATTTGTAAGAGGTCATTAT 0.343000 16 84 0 0 1 0 0 GPR179 440435 broad.mit.edu 37 17 36483325 36483325 + Missense_Mutation SNP C C G TCGA-SY-A9G0-01A-12D-A38G-08 TCGA-SY-A9G0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96624006-b7b9-4f04-b31d-8132ea22f7e9 923f6353-020c-437c-961f-dfbe7516bfe4 g.chr17:36483325C>G ENST00000342292.4 - 11 6147 c.6127G>C c.(6127-6129)Gaa>Caa p.E2043Q GPR179_ENST00000584976.1_Intron NM_001004334.2 NP_001004334.2 Q6PRD1 GP179_HUMAN G protein-coupled receptor 179 2043 integral to membrane|plasma membrane G-protein coupled receptor activity breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) CCTTTCTCTTCTTGAGAGTCC 0.527000 14 74 0 0 1 0 0 LOC101927209 101927209 broad.mit.edu 37 1 142713407 142713407 + RNA SNP C C T rs142431664 by1000genomes TCGA-SY-A9G0-01A-12D-A38G-08 TCGA-SY-A9G0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96624006-b7b9-4f04-b31d-8132ea22f7e9 923f6353-020c-437c-961f-dfbe7516bfe4 g.chr1:142713407C>T ENST00000610091.1 - 0 2251 CAGTAAGAAACTCATTCTTAT 0.318000 4 26 0 0 1 0 0 LRRIQ3 127255 broad.mit.edu 37 1 74575197 74575197 + Missense_Mutation SNP T T C TCGA-SY-A9G0-01A-12D-A38G-08 TCGA-SY-A9G0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96624006-b7b9-4f04-b31d-8132ea22f7e9 923f6353-020c-437c-961f-dfbe7516bfe4 g.chr1:74575197T>C ENST00000354431.4 - 5 939 c.748A>G c.(748-750)Att>Gtt p.I250V LRRIQ3_ENST00000395089.1_Missense_Mutation_p.I250V|LRRIQ3_ENST00000370909.2_Missense_Mutation_p.I142V|LRRIQ3_ENST00000468759.1_5'UTR NM_001105659.1 NP_001099129.1 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 250 QQEKII -> TAGKNY (in Ref. 1; BAD18621). NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5) 73 TATCCTCTAATAATTTTTTCC 0.308000 11 46 0 0 1 0 0 BRD7 29117 broad.mit.edu 37 16 50354263 50354263 + Missense_Mutation SNP C C G TCGA-SY-A9G0-01A-12D-A38G-08 TCGA-SY-A9G0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96624006-b7b9-4f04-b31d-8132ea22f7e9 923f6353-020c-437c-961f-dfbe7516bfe4 g.chr16:50354263C>G ENST00000394688.3 - 15 1811 c.1652G>C c.(1651-1653)aGa>aCa p.R551T BRD7_ENST00000394689.2_Missense_Mutation_p.R552T Q9NPI1 BRD7_HUMAN bromodomain containing 7 551 cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|nucleus histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2) 22 all_cancers(37;0.0127) CCTGAGCAATCTGGTGGTCTC 0.463000 8 67 0 0 1 0 0 MCEE 84693 broad.mit.edu 37 2 71351605 71351605 + Nonsense_Mutation SNP G G A TCGA-SY-A9G0-01A-12D-A38G-08 TCGA-SY-A9G0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96624006-b7b9-4f04-b31d-8132ea22f7e9 923f6353-020c-437c-961f-dfbe7516bfe4 g.chr2:71351605G>A ENST00000244217.5 - 2 126 c.109C>T c.(109-111)Caa>Taa p.Q37* NM_032601.3 NP_115990.3 Q96PE7 MCEE_HUMAN methylmalonyl CoA epimerase 37 fatty acid beta-oxidation|L-methylmalonyl-CoA metabolic process mitochondrial matrix methylmalonyl-CoA epimerase activity kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 9 CCTGTCACTTGATCCAAGGGC 0.448000 10 132 0 0 1 0 0 IGSF10 285313 broad.mit.edu 37 3 151166340 151166340 + Missense_Mutation SNP T T A TCGA-SY-A9G0-01A-12D-A38G-08 TCGA-SY-A9G0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96624006-b7b9-4f04-b31d-8132ea22f7e9 923f6353-020c-437c-961f-dfbe7516bfe4 g.chr3:151166340T>A ENST00000282466.3 - 4 1428 c.1429A>T c.(1429-1431)Agg>Tgg p.R477W NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 477 Ig-like C2-type 1. cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TTGTTATCCCTTGAAATCATA 0.478000 10 111 0 0 1 0 0 TMEM259 91304 broad.mit.edu 37 19 1010796 1010796 + Frame_Shift_Del DEL G G - TCGA-SY-A9G0-01A-12D-A38G-08 TCGA-SY-A9G0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96624006-b7b9-4f04-b31d-8132ea22f7e9 923f6353-020c-437c-961f-dfbe7516bfe4 g.chr19:1010796delG ENST00000356663.3 - 11 1537 c.1416delC c.(1414-1416)cccfs p.P472fs TMEM259_ENST00000333175.5_3'UTR NM_001033026.1 NP_001028198.1 transmembrane protein 259 TGGGGGTCCCGGGGCCCAGTG 0.677 2 4 --- --- --- --- LA16c-23H5.4 0 broad.mit.edu 37 22 16419352 16419352 + RNA DEL T T - TCGA-SY-A9G0-01A-12D-A38G-08 TCGA-SY-A9G0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96624006-b7b9-4f04-b31d-8132ea22f7e9 923f6353-020c-437c-961f-dfbe7516bfe4 g.chr22:16419352delT ENST00000444162.1 + 0 279 GAATCGACGATTTTTTTTTTG 0.398 3 3 --- --- --- ---