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 ZNF618 114991 broad.mit.edu 37 9 116812345 116812345 + Silent SNP G G A TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr9:116812345G>A ENST00000288466.7 + 14 2583 c.2484G>A c.(2482-2484)ggG>ggA p.G828G ZNF618_ENST00000374126.5_Silent_p.G921G|ZNF618_ENST00000470105.1_3'UTR NM_133374.2 NP_588615.2 Q5T7W0 ZN618_HUMAN zinc finger protein 618 921 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G921G(1)|p.G838G(1)|p.G828G(1) breast(1)|endometrium(4)|lung(10)|urinary_tract(1) 16 CCAGAAGCGGGTGTGTAAATA 0.507000 30 75 0 0 0.153744 0 0 PCDHAC1 56135 broad.mit.edu 37 5 140307955 140307955 + Missense_Mutation SNP C C T TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr5:140307955C>T ENST00000253807.2 + 1 1478 c.1478C>T c.(1477-1479)tCa>tTa p.S493L PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.S493L|PCDHA1_ENST00000504120.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron NM_018898.3 NP_061721.2 p.S493L(1) NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 65 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAAGGGCCATCAGCCTCTAGC 0.537000 81 42 0 0 0.139131 0 0 SLC35F4 341880 broad.mit.edu 37 14 58031040 58031040 + Missense_Mutation SNP G G A TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr14:58031040G>A ENST00000556826.1 - 8 1507 c.1271C>T c.(1270-1272)aCc>aTc p.T424I SLC35F4_ENST00000554729.1_Missense_Mutation_p.T301I|SLC35F4_ENST00000339762.6_Missense_Mutation_p.T460I NM_001206920.1 NP_001193849.1 solute carrier family 35, member F4 p.T460I(2) breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 GATGATGATGGTAGCAGCCAG 0.453000 11 10 0 0 0.093190 0 0 THEMIS 387357 broad.mit.edu 37 6 128134483 128134483 + Missense_Mutation SNP C C T TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr6:128134483C>T ENST00000368250.1 - 5 1564 c.1066G>A c.(1066-1068)Gta>Ata p.V356I THEMIS_ENST00000537166.1_Missense_Mutation_p.V400I|THEMIS_ENST00000543064.1_Missense_Mutation_p.V435I|THEMIS_ENST00000368248.2_Missense_Mutation_p.V435I Q8N1K5 THMS1_HUMAN thymocyte selection associated 435 CABIT 2. negative T cell selection|positive T cell selection|T cell receptor signaling pathway cytoplasm|nucleus p.V435I(1) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3) 60 ATCACCTCTACAAAACCTCCT 0.433000 22 54 0 0 0.069288 0 0 NOS3 4846 broad.mit.edu 37 7 150696094 150696094 + Silent SNP C C T TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr7:150696094C>T ENST00000297494.3 + 8 1234 c.877C>T c.(877-879)Ctg>Ttg p.L293L NOS3_ENST00000461406.1_Silent_p.L87L|NOS3_ENST00000467517.1_Silent_p.L293L|NOS3_ENST00000484524.1_Silent_p.L293L NM_000603.4 NP_000594.2 P29474 NOS3_HUMAN nitric oxide synthase 3 (endothelial cell) 293 Interaction with NOSIP. anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia caveola|cytoskeleton|cytosol|Golgi membrane actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding p.L293L(1) NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360) GCCCCTGCTGCTGCAGGCCCC 0.652000 72 135 0 0 0.139131 0 0 RIOK2 55781 broad.mit.edu 37 5 96508967 96508967 + Splice_Site SNP C C T TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr5:96508967C>T ENST00000283109.3 - 5 567 c.499G>A c.(499-501)Gca>Aca p.A167T RIOK2_ENST00000508447.1_Splice_Site_p.A167T|CTD-2215E18.1_ENST00000509481.1_Intron NM_018343.2 NP_060813.2 Q9BVS4 RIOK2_HUMAN RIO kinase 2 167 ATP binding|protein serine/threonine kinase activity p.A167T(2) breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2) 23 all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105) COAD - Colon adenocarcinoma(37;0.0657) TCATACAATGCCTAAAATGTT 0.333000 12 26 0 0 0.093190 0 0 TCN2 6948 broad.mit.edu 37 22 31011460 31011460 + Splice_Site SNP G G A TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr22:31011460G>A ENST00000215838.3 + 5 1247 c.753G>A c.(751-753)caG>caA p.Q251Q TCN2_ENST00000405742.3_Splice_Site_p.Q247Q|TCN2_ENST00000407817.3_Splice_Site_p.Q224Q P20062 TCO2_HUMAN transcobalamin II 251 cobalamin metabolic process|cobalamin transport|cobalt ion transport extracellular space cobalamin binding p.Q251Q(1) central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1) 22 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TGGCATTACAGGTGGGAAAGA 0.607000 44 24 0 0 0.139131 0 0 RAB13 5872 broad.mit.edu 37 1 153958590 153958590 + Splice_Site SNP G G A TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr1:153958590G>A ENST00000368575.3 - 1 238 c.123C>T c.(121-123)atC>atT p.I41I RAB13_ENST00000462680.1_5'UTR NM_002870.2 NP_002861.1 P51153 RAB13_HUMAN RAB13, member RAS oncogene family 41 cell adhesion|protein transport|small GTPase mediated signal transduction|vesicle-mediated transport cytoplasmic vesicle membrane|tight junction GTP binding|GTPase activity p.I41I(2) breast(1)|endometrium(3)|kidney(1)|lung(5)|urinary_tract(1) 11 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) CGGGCTCACCGATGGTGGAGA 0.552000 9 53 0 0 0.069234 0 0 IFITM5 387733 broad.mit.edu 37 11 299346 299346 + Missense_Mutation SNP G G C TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr11:299346G>C ENST00000382614.2 - 1 180 c.145C>G c.(145-147)Ctg>Gtg p.L49V NM_001025295.2 NP_001020466.1 A6NNB3 IFM5_HUMAN interferon induced transmembrane protein 5 49 multicellular organismal development|regulation of bone mineralization|response to biotic stimulus integral to membrane|plasma membrane p.L49V(1) lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;5.73e-28)|Epithelial(43;3.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.14e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0328)|LUSC - Lung squamous cell carcinoma(625;0.122) AGGCAACACAGATTCAGGTAG 0.662000 4 6 0 0 0.038147 0 0 FAT4 79633 broad.mit.edu 37 4 126336818 126336818 + Nonsense_Mutation SNP C C T TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr4:126336818C>T ENST00000394329.3 + 5 6713 c.6700C>T c.(6700-6702)Cga>Tga p.R2234* FAT4_ENST00000335110.5_Nonsense_Mutation_p.R532* NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 2234 Cadherin 21. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.R2234*(2) 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 GGCAACAGATCGAGGCAGCAC 0.438000 42 78 0 0 0.124865 0 0 MUC3A 4584 broad.mit.edu 37 7 100550224 100550224 + Missense_Mutation SNP G G A TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr7:100550224G>A ENST00000379458.4 + 2 805 c.805G>A c.(805-807)Gtg>Atg p.V269M MUC3A_ENST00000483366.1_3'UTR mucin 3A, cell surface associated p.V269M(1) breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 CACAAATACAGTGACTTCTAT 0.478000 62 69 0 0 0.139131 0 0 USP29 57663 broad.mit.edu 37 19 57641980 57641980 + Missense_Mutation SNP C C T TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr19:57641980C>T ENST00000254181.4 + 4 2391 c.1937C>T c.(1936-1938)cCa>cTa p.P646L USP29_ENST00000598197.1_Missense_Mutation_p.P646L NM_020903.2 NP_065954.1 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 646 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity p.P646L(1) breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) AAGGAGCTTCCAGTGGCTGAC 0.507000 22 27 0 0 0.099896 0 0 ARID4B 51742 broad.mit.edu 37 1 235377119 235377119 + Silent SNP G G A TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr1:235377119G>A ENST00000264183.3 - 17 2303 c.1806C>T c.(1804-1806)gtC>gtT p.V602V ARID4B_ENST00000366603.2_Silent_p.V602V|ARID4B_ENST00000349213.3_Intron NM_016374.5 NP_057458.4 Q4LE39 ARI4B_HUMAN AT rich interactive domain 4B (RBP1-like) 602 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding p.V602V(1) NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2) 8 Ovarian(103;0.0473)|Breast(184;0.23) all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24) OV - Ovarian serous cystadenocarcinoma(106;2.86e-05) CCAAGTAAAGGACCTCTCCAC 0.358000 33 185 0 0 0.214465 0 0 FOLH1 2346 broad.mit.edu 37 11 49176040 49176040 + Missense_Mutation SNP G G A TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr11:49176040G>A ENST00000340334.7 - 17 1951 c.1583C>T c.(1582-1584)aCa>aTa p.T528I FOLH1_ENST00000533034.1_Missense_Mutation_p.T528I|FOLH1_ENST00000343844.4_Missense_Mutation_p.T235I|FOLH1_ENST00000356696.3_Missense_Mutation_p.T543I|FOLH1_ENST00000256999.2_Missense_Mutation_p.T543I NM_001193471.1|NM_001193472.1 NP_001180400.1|NP_001180401.1 Q04609 FOLH1_HUMAN folate hydrolase (prostate-specific membrane antigen) 1 543 NAALADase. proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity p.T543I(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 60 Capromab(DB00089)|L-Glutamic Acid(DB00142) GAATTTGTTTGTTTCCTACAG 0.323000 5 14 0 0 0.184627 0 0 RSPH6A 81492 broad.mit.edu 37 19 46314063 46314063 + Missense_Mutation SNP A A G TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr19:46314063A>G ENST00000221538.3 - 2 828 c.686T>C c.(685-687)cTg>cCg p.L229P RSPH6A_ENST00000597055.1_Missense_Mutation_p.L229P|RSPH6A_ENST00000600188.1_5'UTR NM_030785.3 NP_110412.1 Q9H0K4 RSH6A_HUMAN radial spoke head 6 homolog A (Chlamydomonas) 229 intracellular p.L229P(1) central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 32 CCGCTGGTTCAGGATCTTGGT 0.632000 3 71 0 0 0.115264 0 0 FAM84B 157638 broad.mit.edu 37 8 127569399 127569399 + Missense_Mutation SNP T T G TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr8:127569399T>G ENST00000304916.3 - 2 691 c.236A>C c.(235-237)cAc>cCc p.H79P RP11-103H7.5_ENST00000524320.1_RNA NM_174911.4 NP_777571.1 Q96KN1 FA84B_HUMAN family with sequence similarity 84, member B 79 cytoplasm|plasma membrane protein binding p.H79P(1) lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 5 Ovarian(5;9.43e-05)|Esophageal squamous(12;0.0012)|Hepatocellular(40;0.128)|Myeloproliferative disorder(2;0.135) STAD - Stomach adenocarcinoma(47;0.000556)|Colorectal(2;0.0102)|Lung(2;0.0136)|READ - Rectum adenocarcinoma(2;0.0723) TTCCACCTCGTGCAGCCGCGG 0.716000 12 16 0 0 0.105934 0 0 NRSN2 80023 broad.mit.edu 37 20 334124 334124 + Missense_Mutation SNP G G A TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr20:334124G>A ENST00000382291.3 + 4 700 c.460G>A c.(460-462)Gaa>Aaa p.E154K NRSN2_ENST00000608736.1_Intron|NRSN2_ENST00000382285.2_Missense_Mutation_p.E154K|NRSN2_ENST00000492242.1_3'UTR NM_024958.2 NP_079234.1 Q9GZP1 NRSN2_HUMAN neurensin 2 154 integral to membrane|plasma membrane|transport vesicle p.E154K(1) endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1) 8 all_cancers(10;0.0834) CTTGGACCCCGAAGCCGACAG 0.622000 45 113 0 0 0.139131 0 0 PODN 127435 broad.mit.edu 37 1 53546444 53546444 + Silent SNP G G T TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr1:53546444G>T ENST00000371500.3 + 11 1985 c.1644G>T c.(1642-1644)ggG>ggT p.G548G RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000312553.5_Silent_p.G567G|PODN_ENST00000395871.2_Silent_p.G425G NM_001199080.1 NP_001186009.1 Q7Z5L7 PODN_HUMAN podocan 519 negative regulation of cell migration|negative regulation of cell proliferation cytoplasm|extracellular space|proteinaceous extracellular matrix collagen binding p.G567G(1) breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 TCCCCGAGGGGCTCCCCGAGT 0.587000 39 11 2.19358e-23 2.41792e-23 0.080422 1 0 MSLNL 401827 broad.mit.edu 37 16 822685 822685 + Splice_Site SNP G G A TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr16:822685G>A ENST00000293892.3 - 12 2421 c.2422C>T c.(2422-2424)Cgg>Tgg p.R808W MSLNL_ENST00000442466.1_Splice_Site_p.R457W Q96KJ4 MSLNL_HUMAN mesothelin-like 457 cell adhesion integral to membrane p.R808W(1) breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 36 TTGGCTCACCGGAGCTCCTGG 0.667000 3 4 0 0 0.115264 0 0 SPTA1 6708 broad.mit.edu 37 1 158636180 158636180 + Missense_Mutation SNP C C T TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr1:158636180C>T ENST00000368147.4 - 16 2326 c.2146G>A c.(2146-2148)Ggg>Agg p.G716R 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 p.G716R(1) 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) AGGCCTTTCCCATAATCCTCA 0.537000 38 32 0 0 0.214465 0 0 ANKMY1 51281 broad.mit.edu 37 2 241420353 241420353 + Splice_Site SNP C C T TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr2:241420353C>T ENST00000391987.1 - 17 3146 c.e17+1 ANKMY1_ENST00000361678.4_Splice_Site|ANKMY1_ENST00000373320.4_Splice_Site|ANKMY1_ENST00000403283.1_Splice_Site|ANKMY1_ENST00000401804.1_Splice_Site|ANKMY1_ENST00000373318.2_Splice_Site|ANKMY1_ENST00000406958.1_Splice_Site|ANKMY1_ENST00000272972.3_Splice_Site NM_001282771.1 NP_001269700.1 Q9P2S6 ANKY1_HUMAN ankyrin repeat and MYND domain containing 1 zinc ion binding p.?(2) central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 30 all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476) GGCCGACCTACCGATGGCCAC 0.642000 39 47 0 0 0.131918 0 0 PLCL1 5334 broad.mit.edu 37 2 198949278 198949278 + Missense_Mutation SNP C C T TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr2:198949278C>T ENST00000428675.1 + 2 1435 c.1037C>T c.(1036-1038)aCc>aTc p.T346I PLCL1_ENST00000437704.2_Missense_Mutation_p.T248I NM_006226.3 NP_006217.3 Q15111 PLCL1_HUMAN phospholipase C-like 1 346 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity p.T248I(1)|p.T346I(1) autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Quinacrine(DB01103) CAAGGAGTCACCCATATCACC 0.393000 63 4 0 0 0.139131 0 0 PARP9 83666 broad.mit.edu 37 3 122277249 122277249 + Silent SNP C C T rs59755035 TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr3:122277249C>T ENST00000360356.2 - 3 308 c.81G>A c.(79-81)caG>caA p.Q27Q PARP9_ENST00000477522.2_Intron|PARP9_ENST00000462315.1_Intron|PARP9_ENST00000492382.1_Intron|PARP9_ENST00000471785.1_Intron NM_001146102.1|NM_031458.2 NP_001139574.1|NP_113646.2 Q8IXQ6 PARP9_HUMAN poly (ADP-ribose) polymerase family, member 9 27 cell migration cytosol|nucleus NAD+ ADP-ribosyltransferase activity|protein binding p.Q27Q(1) endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3) 34 GBM - Glioblastoma multiforme(114;0.0519) CAAAGACTTTCTGAAACAAGA 0.463000 24 62 0 0 0.091800 0 0 NME8 51314 broad.mit.edu 37 7 37901704 37901704 + Silent SNP T T C TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr7:37901704T>C ENST00000199447.4 + 7 717 c.345T>C c.(343-345)gaT>gaC p.D115D NME8_ENST00000440017.1_Silent_p.D115D|EPDR1_ENST00000476620.1_Intron NM_016616.4 NP_057700.3 Q8N427 TXND3_HUMAN NME/NM23 family member 8 115 Thioredoxin. cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process cytoplasm|microtubule cytoskeleton ATP binding|nucleoside diphosphate kinase activity p.D115D(1) ATTTGATCGATGAGGAGAGAA 0.358000 12 21 0 0 0.093190 0 0 DNAH5 1767 broad.mit.edu 37 5 13913952 13913952 + Missense_Mutation SNP C C T rs150601733 TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr5:13913952C>T ENST00000265104.4 - 11 1540 c.1436G>A c.(1435-1437)cGc>cAc p.R479H NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 479 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.R479H(1) 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) CTTGGCAAGGCGTCGGTGAAA 0.368000 Kartagener syndrome 42 40 0 0 0.104719 0 0 CHD5 26038 broad.mit.edu 37 1 6206806 6206806 + Silent SNP C C T TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr1:6206806C>T ENST00000262450.3 - 10 1608 c.1509G>A c.(1507-1509)ctG>ctA p.L503L CHD5_ENST00000378021.1_5'UTR NM_015557.2 NP_056372.1 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 503 Chromo 1.|Pro-rich. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding p.L503L(1) breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 16 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) GGATGCCCTCCAGGGGCTTAG 0.647000 9 30 0 0 0.058154 0 0 SPEG 10290 broad.mit.edu 37 2 220344839 220344839 + Silent SNP C C T TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr2:220344839C>T ENST00000312358.7 + 25 5451 c.5319C>T c.(5317-5319)ccC>ccT p.P1773P SPEG_ENST00000485813.1_3'UTR NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 1773 Protein kinase 1. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity p.P1773P(2) breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) ATCAGAGCCCCGTGTCTGGAG 0.617000 32 39 0 0 0.214465 0 0 LCN9 392399 broad.mit.edu 37 9 138555250 138555250 + Missense_Mutation SNP A A G TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr9:138555250A>G ENST00000277526.3 + 1 83 c.83A>G c.(82-84)tAc>tGc p.Y28C LCN9_ENST00000430290.2_3'UTR NM_001001676.1 NP_001001676.1 Q8WX39 LCN9_HUMAN lipocalin 9 28 extracellular region pheromone binding|transporter activity p.Y28C(2) kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1) 6 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05) CAGAGGAACTACAACGTGGCC 0.627000 26 32 0 0 0.099896 0 0 SH2D1A 4068 broad.mit.edu 37 X 123504041 123504041 + Missense_Mutation SNP C C T TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chrX:123504041C>T ENST00000371139.4 + 3 516 c.217C>T c.(217-219)Cat>Tat p.H73Y SH2D1A_ENST00000360027.4_Missense_Mutation_p.H73Y|SH2D1A_ENST00000491950.1_3'UTR|STAG2_ENST00000469481.1_Intron|SH2D1A_ENST00000477673.2_Intron NM_001114937.2|NM_002351.4 NP_001108409.1|NP_002342.1 O60880 SH21A_HUMAN SH2 domain containing 1A 73 SH2. cell-cell signaling|cellular defense response cytoplasm SH3/SH2 adaptor activity p.H73Y(1) haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 ACCTGGGGTACATAAAAGATA 0.368000 65 112 0 0 0.139131 0 0 ABTB2 25841 broad.mit.edu 37 11 34182492 34182492 + Silent SNP G G A TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr11:34182492G>A ENST00000435224.2 - 11 2779 c.2355C>T c.(2353-2355)acC>acT p.T785T ABTB2_ENST00000298992.2_Silent_p.T599T NM_145804.2 NP_665803.2 A8K6S9 A8K6S9_HUMAN ankyrin repeat and BTB (POZ) domain containing 2 599 DNA binding p.T599T(1) breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691) GCAAGCCCTCGGTCACCAGCT 0.602000 31 31 0 0 0.173368 0 0 MKRN3 7681 broad.mit.edu 37 15 23811572 23811572 + Missense_Mutation SNP C C T TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr15:23811572C>T ENST00000314520.3 + 1 1119 c.643C>T c.(643-645)Cgc>Tgc p.R215C MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000564592.1_Intron NM_005664.3 NP_005655.1 Q13064 MKRN3_HUMAN makorin ring finger protein 3 215 ribonucleoprotein complex ligase activity|nucleic acid binding|zinc ion binding p.R215C(1) breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14) all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012) CTACCGGGGCCGCTGGGTTGC 0.592000 13 15 0 0 0.132662 0 0 ARHGAP32 9743 broad.mit.edu 37 11 128857989 128857989 + Silent SNP G G A TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr11:128857989G>A ENST00000310343.9 - 12 1184 c.1185C>T c.(1183-1185)ttC>ttT p.F395F ARHGAP32_ENST00000527272.1_Silent_p.F46F|ARHGAP32_ENST00000524655.1_Silent_p.F321F|ARHGAP32_ENST00000392657.3_Silent_p.F46F NM_001142685.1 NP_001136157.1 A7KAX9 RHG32_HUMAN Rho GTPase activating protein 32 395 Rho-GAP. cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding p.F46F(1)|p.F395F(1) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3) 60 ATCTCTCAATGAATGCTGTGC 0.393000 19 38 0 0 0.204396 0 0 OSBPL3 26031 broad.mit.edu 37 7 24932082 24932082 + Missense_Mutation SNP C C T TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr7:24932082C>T ENST00000313367.2 - 2 461 c.10G>A c.(10-12)Gat>Aat p.D4N OSBPL3_ENST00000396431.1_Missense_Mutation_p.D4N|OSBPL3_ENST00000353930.1_Missense_Mutation_p.D4N|OSBPL3_ENST00000396429.1_Missense_Mutation_p.D4N|OSBPL3_ENST00000352860.1_Missense_Mutation_p.D4N|OSBPL3_ENST00000409069.1_Missense_Mutation_p.D4N|OSBPL3_ENST00000431825.2_Missense_Mutation_p.D4N NM_015550.2 NP_056365.1 Q9H4L5 OSBL3_HUMAN oxysterol binding protein-like 3 4 lipid transport lipid binding|protein binding p.D4N(1) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1) 43 TTCTTCTCATCACTCATCATG 0.478000 21 27 0 0 0.076483 0 0 KIAA1109 84162 broad.mit.edu 37 4 123171629 123171629 + Silent SNP C C T TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr4:123171629C>T ENST00000264501.4 + 37 6196 c.5823C>T c.(5821-5823)acC>acT p.T1941T KIAA1109_ENST00000388738.3_Silent_p.T1941T|KIAA1109_ENST00000455637.1_Silent_p.T1941T Q2LD37 K1109_HUMAN KIAA1109 1941 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus p.T1941T(1) breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 ATTCTCCAACCGGCAGTGGCT 0.418000 39 59 0 0 0.203993 0 0 KDM5B 10765 broad.mit.edu 37 1 202705488 202705488 + Silent SNP G G C TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr1:202705488G>C ENST00000367265.3 - 21 4281 c.3117C>G c.(3115-3117)ctC>ctG p.L1039L KDM5B_ENST00000367264.2_Silent_p.L1075L NM_006618.3 NP_006609.3 Q9UGL1 KDM5B_HUMAN lysine (K)-specific demethylase 5B 1039 negative regulation of transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding p.L1039L(1) breast(2)|ovary(2)|skin(1)|urinary_tract(1) 6 CAAGTTCTATGAGTGTGTCTA 0.423000 18 79 0 0 0.204396 0 0 ZNF394 84124 broad.mit.edu 37 7 99097605 99097605 + Missense_Mutation SNP G G A TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr7:99097605G>A ENST00000337673.6 - 1 315 c.112C>T c.(112-114)Ccc>Tcc p.P38S ZNF394_ENST00000426306.2_Missense_Mutation_p.P38S|ZNF789_ENST00000493485.1_Intron|ZNF394_ENST00000394177.3_Intron|ZNF789_ENST00000494186.1_Intron NM_032164.2 NP_115540.2 Q53GI3 ZN394_HUMAN zinc finger protein 394 38 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.P38S(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1) 16 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) ACTTTCACGGGCAAAAGTCCG 0.652000 4 94 0 0 0.150653 0 0 BHLHB9 80823 broad.mit.edu 37 X 102004206 102004206 + Missense_Mutation SNP G G C TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chrX:102004206G>C ENST00000372735.1 + 4 868 c.283G>C c.(283-285)Gag>Cag p.E95Q BHLHB9_ENST00000447531.1_Missense_Mutation_p.E95Q|BHLHB9_ENST00000361229.4_Missense_Mutation_p.E95Q|BHLHB9_ENST00000457056.1_Missense_Mutation_p.E95Q|BHLHB9_ENST00000448867.1_Missense_Mutation_p.E95Q Q6PI77 BHLH9_HUMAN basic helix-loop-helix domain containing, class B, 9 95 cytoplasm|nucleus binding p.E95Q(1) cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 GGCTGGGAATGAGTCCACCAG 0.512000 18 51 0 0 0.175082 0 0 NLRC3 197358 broad.mit.edu 37 16 3613170 3613170 + RNA SNP C C T TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr16:3613170C>T ENST00000301749.7 - 0 2173 NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000448023.2_RNA NM_178844.2 NP_849172.2 Q7RTR2 NLRC3_HUMAN NLR family, CARD domain containing 3 I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation cytoplasm ATP binding p.G637R(1) breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GCCAGGGCCCCGCTCTCCATG 0.697000 4 7 0 0 0.184627 0 0 MYH7B 57644 broad.mit.edu 37 20 33582027 33582027 + Missense_Mutation SNP C C G TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr20:33582027C>G ENST00000262873.7 + 25 2741 c.2649C>G c.(2647-2649)ttC>ttG p.F883L NM_020884.3 NP_065935.2 A7E2Y1 MYH7B_HUMAN myosin, heavy chain 7B, cardiac muscle, beta 841 membrane|myosin filament actin binding|ATP binding|motor activity p.F883L(1) NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 BRCA - Breast invasive adenocarcinoma(18;0.00691) AGCTCTTTTTCAAGATGAAGC 0.647000 52 189 0 0 0.139131 0 0 KIF17 57576 broad.mit.edu 37 1 21031304 21031304 + Silent SNP C C T TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr1:21031304C>T ENST00000247986.2 - 5 1069 c.759G>A c.(757-759)acG>acA p.T253T KIF17_ENST00000375044.1_Silent_p.T153T|KIF17_ENST00000400463.3_Silent_p.T253T Q9P2E2 KIF17_HUMAN kinesin family member 17 253 Kinesin-motor. microtubule-based movement|protein transport cytoplasm|microtubule ATP binding p.T253T(1) NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209) GCCGCTCGCCCGTGGCCCCGG 0.677000 21 87 0 0 0.055883 0 0 BRD2 6046 broad.mit.edu 37 6 32947663 32947663 + Nonsense_Mutation SNP G G T TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr6:32947663G>T ENST00000395289.2 + 12 3606 c.2005G>T c.(2005-2007)Gag>Tag p.E669* BRD2_ENST00000374825.4_Nonsense_Mutation_p.E634*|BRD2_ENST00000374831.4_Nonsense_Mutation_p.E634*|BRD2_ENST00000443797.2_Nonsense_Mutation_p.E514*|BRD2_ENST00000449085.2_Nonsense_Mutation_p.E587*|BRD2_ENST00000395287.1_Nonsense_Mutation_p.E669* P25440 BRD2_HUMAN bromodomain containing 2 634 ET. spermatogenesis nucleus protein serine/threonine kinase activity p.E669*(1) central_nervous_system(3)|stomach(2) 5 TTATGATTCAGAGGAGGAGGA 0.522000 10 40 3.07112e-06 3.18041e-06 0.080935 1 0 HNRNPR 10236 broad.mit.edu 37 1 23637376 23637376 + Silent SNP G G A TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr1:23637376G>A ENST00000478691.1 - 10 1450 c.1179C>T c.(1177-1179)taC>taT p.Y393Y HNRNPR_ENST00000426846.2_Silent_p.Y331Y|HNRNPR_ENST00000374612.1_Silent_p.Y491Y|HNRNPR_ENST00000374616.3_Silent_p.Y494Y|HNRNPR_ENST00000302271.6_Silent_p.Y491Y|HNRNPR_ENST00000606561.1_Silent_p.Y352Y|HNRNPR_ENST00000427764.2_Silent_p.Y453Y|HNRNPR_ENST00000476660.1_5'UTR NM_001102397.1|NM_001102399.1 NP_001095867.1|NP_001095869.1 O43390 HNRPR_HUMAN heterogeneous nuclear ribonucleoprotein R 491 RRM 3. catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding p.Y491Y(2) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19) CATCATAGCCGTAGTAGGGAT 0.507000 122 96 0 0 0.139131 0 0 FAM177A1 283635 broad.mit.edu 37 14 35550231 35550231 + Missense_Mutation SNP G G C rs56876270 TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr14:35550231G>C ENST00000396472.1 + 7 898 c.439G>C c.(439-441)Gaa>Caa p.E147Q FAM177A1_ENST00000382406.3_Missense_Mutation_p.E147Q|FAM177A1_ENST00000280987.4_Missense_Mutation_p.E170Q NM_001079519.1 NP_001072987.1 Q8N128 F177A_HUMAN family with sequence similarity 177, member A1 147 p.E147Q(1) breast(1)|large_intestine(1)|lung(2)|urinary_tract(1) 5 TTTTTAGgaagaagaagaaga 0.333000 3 21 0 0 0.115264 0 0 ZNF804A 91752 broad.mit.edu 37 2 185802171 185802171 + Missense_Mutation SNP C C T TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr2:185802171C>T ENST00000302277.6 + 4 2642 c.2048C>T c.(2047-2049)aCt>aTt p.T683I NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 683 intracellular zinc ion binding p.T683I(1) NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 GAATACAACACTTATGATACT 0.303000 36 1 0 0 0.173368 0 0 ATRX 546 broad.mit.edu 37 X 76764097 76764097 + Missense_Mutation SNP C C G TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chrX:76764097C>G ENST00000373344.5 - 35 7425 c.7211G>C c.(7210-7212)tGt>tCt p.C2404S ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.C2366S NM_000489.3 NP_000480.3 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 2404 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.C2404S(2) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) TCGCTGAACACAGCTGATTAA 0.403000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 121 155 0 0 0.139131 0 0 SLC25A37 51312 broad.mit.edu 37 8 23429029 23429029 + Silent SNP C C T TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr8:23429029C>T ENST00000519973.1 + 4 876 c.678C>T c.(676-678)gtC>gtT p.V226V NM_016612.2 NP_057696.2 Q9NYZ2 MFRN1_HUMAN solute carrier family 25 (mitochondrial iron transporter), member 37 226 ion transport|iron ion homeostasis integral to membrane|mitochondrial inner membrane p.V226V(1) NS(1)|endometrium(3)|large_intestine(2)|lung(8)|urinary_tract(1) 15 Prostate(55;0.114) Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751) AGGAGCAGGTCAACCCCCACC 0.642000 18 22 0 0 0.175082 0 0 SLC6A19 340024 broad.mit.edu 37 5 1221323 1221323 + Silent SNP C C T TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr5:1221323C>T ENST00000304460.10 + 11 1652 c.1596C>T c.(1594-1596)gtC>gtT p.V532V NM_001003841.2 NP_001003841.1 Q695T7 S6A19_HUMAN solute carrier family 6 (neutral amino acid transporter), member 19 532 cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity p.V532V(1) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10) Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) TCTGGCAAGTCACGTGGCGCG 0.562000 12 35 0 0 0.080935 0 0 DCLRE1A 9937 broad.mit.edu 37 10 115609945 115609945 + Nonsense_Mutation SNP C C A TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr10:115609945C>A ENST00000361384.2 - 2 1836 c.919G>T c.(919-921)Gaa>Taa p.E307* DCLRE1A_ENST00000369305.1_Nonsense_Mutation_p.E307* NM_014881.3 NP_055696.3 Q6PJP8 DCR1A_HUMAN DNA cross-link repair 1A 307 cell division|mitosis nucleus hydrolase activity p.E307*(1) breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1) 31 Epithelial(162;0.0157)|all cancers(201;0.0171) TGAGTGTCTTCATCACTTTGA 0.398000 Other identified genes with known or suspected DNA repair function 57 98 3.40343e-31 3.79462e-31 0.139131 1 0 DLL1 28514 broad.mit.edu 37 6 170594690 170594690 + Nonsense_Mutation SNP G G A TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr6:170594690G>A ENST00000366756.3 - 6 1162 c.829C>T c.(829-831)Cag>Tag p.Q277* NM_005618.3 NP_005609.3 O00548 DLL1_HUMAN delta-like 1 (Drosophila) 277 EGF-like 2. cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion extracellular region|integral to plasma membrane calcium ion binding|Notch binding p.Q277*(1) NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 33 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584) CAGCCTTCCTGGCAGTTGCAC 0.627000 32 54 0 0 0.163468 0 0 SLC39A5 283375 broad.mit.edu 37 12 56629078 56629078 + Missense_Mutation SNP T T C TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr12:56629078T>C ENST00000266980.4 + 5 1065 c.772T>C c.(772-774)Tgt>Cgt p.C258R SLC39A5_ENST00000454355.2_Missense_Mutation_p.C258R NM_001135195.1 NP_001128667.1 Q6ZMH5 S39A5_HUMAN solute carrier family 39 (zinc transporter), member 5 258 zinc ion transport basolateral plasma membrane|integral to membrane metal ion transmembrane transporter activity p.C257R(1) NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 GGGCACTCTTTGTGGGGATGC 0.617000 112 77 0 0 0.139131 0 0 ATR 545 broad.mit.edu 37 3 142183957 142183957 + Missense_Mutation SNP G G C TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr3:142183957G>C ENST00000350721.4 - 41 7144 c.7023C>G c.(7021-7023)ttC>ttG p.F2341L ATR_ENST00000383101.3_Missense_Mutation_p.F2277L NM_001184.3 NP_001175.2 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related 2341 PI3K/PI4K. cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity p.F2341L(1) NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4) 122 TCAAGGAATTGAATTCCATTA 0.274000 Other conserved DNA damage response genes 26 13 0 0 0.108266 0 0 CDK12 51755 broad.mit.edu 37 17 37650822 37650822 + Missense_Mutation SNP A A G TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr17:37650822A>G ENST00000447079.4 + 5 2327 c.2294A>G c.(2293-2295)gAg>gGg p.E765G CDK12_ENST00000430627.2_Missense_Mutation_p.E765G NM_015083.1|NM_016507.2 NP_055898.1|NP_057591.2 Q9NYV4 CDK12_HUMAN cyclin-dependent kinase 12 765 Protein kinase. mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity p.E765G(1) NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3) 70 AATGAGAAAGAGGGCTTCCCA 0.388000 """Mis, N, F""" serous ovarian TCGA Ovarian(9;0.13) 10 42 0 0 0.069234 0 0 HDC 3067 broad.mit.edu 37 15 50550637 50550637 + Missense_Mutation SNP C C A TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr15:50550637C>A ENST00000267845.3 - 3 684 c.282G>T c.(280-282)atG>atT p.M94I HDC_ENST00000543581.1_Missense_Mutation_p.M94I NM_002112.3 NP_002103.2 P19113 DCHS_HUMAN histidine decarboxylase 94 catecholamine biosynthetic process|histidine metabolic process histidine decarboxylase activity p.M94I(1) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 all_lung(180;0.0138) all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05) L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114) CATCAGCCAGCATGTCTCCTA 0.577000 18 39 0.000175454 0.000180414 0.055883 1 0 LDLRAD4 753 broad.mit.edu 37 18 13621234 13621234 + Silent SNP G G A TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr18:13621234G>A ENST00000361205.4 + 5 968 c.300G>A c.(298-300)ccG>ccA p.P100P LDLRAD4_ENST00000586765.1_Silent_p.P63P|LDLRAD4_ENST00000399848.3_Silent_p.P100P|LDLRAD4_ENST00000359446.5_Silent_p.P100P|LDLRAD4_ENST00000587757.1_Silent_p.P63P|LDLRAD4_ENST00000585931.1_Silent_p.P23P NM_001276249.1|NM_181481.3 NP_001263178.1|NP_852146.1 low density lipoprotein receptor class A domain containing 4 p.P100P(1)|p.P63P(1) TCAACCGCCCGAACCAGAGCC 0.622000 33 94 0 0 0.153744 0 0 PHF12 57649 broad.mit.edu 37 17 27233884 27233884 + Silent SNP C C T TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr17:27233884C>T ENST00000332830.4 - 14 3480 c.2670G>A c.(2668-2670)caG>caA p.Q890Q PHF12_ENST00000577226.1_3'UTR NM_001033561.1 NP_001028733.1 Q96QT6 PHF12_HUMAN PHD finger protein 12 890 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex protein binding|zinc ion binding p.Q890Q(1) breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 30 all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01) Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05) TGATGACACTCTGCACTTTGG 0.542000 113 52 0 0 0.139131 0 0 PMEL 6490 broad.mit.edu 37 12 56355231 56355231 + Silent SNP G G A TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr12:56355231G>A ENST00000548747.1 - 3 866 c.204C>T c.(202-204)ctC>ctT p.L68L PMEL_ENST00000548493.1_Silent_p.L68L|PMEL_ENST00000550464.1_Intron|PMEL_ENST00000536427.1_Silent_p.L68L|PMEL_ENST00000550447.1_Silent_p.L31L|PMEL_ENST00000449260.2_Silent_p.L68L|PMEL_ENST00000548689.1_5'UTR|PMEL_ENST00000360714.4_Silent_p.L68L|PMEL_ENST00000539511.1_Intron|PMEL_ENST00000552882.1_Silent_p.L68L P40967 PMEL_HUMAN premelanosome protein 68 melanin biosynthetic process|melanosome organization endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane protein binding p.L68L(1) NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 TACTGACCTTGAGGGACACTT 0.517000 29 64 0 0 0.153744 0 0 KIAA2018 205717 broad.mit.edu 37 3 113374183 113374183 + Missense_Mutation SNP G G C TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr3:113374183G>C ENST00000316407.4 - 7 6756 c.6346C>G c.(6346-6348)Cct>Gct p.P2116A KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Missense_Mutation_p.P2116A NM_001009899.2 NP_001009899.2 Q68DE3 K2018_HUMAN KIAA2018 2116 regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity p.P2116A(1) NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 80 GGATGAGCAGGAGAGTATGGA 0.448000 27 67 0 0 0.091800 0 0 HECW2 57520 broad.mit.edu 37 2 197080609 197080609 + Silent SNP C C A TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr2:197080609C>A ENST00000260983.3 - 28 4769 c.4587G>T c.(4585-4587)ggG>ggT p.G1529G HECW2_ENST00000409111.1_Silent_p.G1173G NM_020760.1 NP_065811.1 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity p.G1529G(1) biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 113 CAGTGATTTTCCCCCATTTCT 0.388000 11 23 4.68919e-08 4.92619e-08 0.069234 1 0 LRRC8C 84230 broad.mit.edu 37 1 90178326 90178326 + Missense_Mutation SNP C C G TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr1:90178326C>G ENST00000370454.4 + 3 452 c.197C>G c.(196-198)tCt>tGt p.S66C RP11-302M6.4_ENST00000370453.5_Intron|LRRC8C_ENST00000479252.1_Intron NM_032270.4 NP_115646 Q8TDW0 LRC8C_HUMAN leucine rich repeat containing 8 family, member C 66 endoplasmic reticulum membrane|integral to membrane p.S66C(1) breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 28 all_lung(203;0.126) all cancers(265;0.00756)|Epithelial(280;0.0313) CAGAACCACTCTTCCCTTTCG 0.443000 12 34 0 0 0.080935 0 0 SPIRE2 84501 broad.mit.edu 37 16 89924757 89924757 + Missense_Mutation SNP C C G TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr16:89924757C>G ENST00000378247.3 + 8 1157 c.1114C>G c.(1114-1116)Ctg>Gtg p.L372V SPIRE2_ENST00000393062.2_Missense_Mutation_p.L372V NM_032451.1 NP_115827.1 Q8WWL2 SPIR2_HUMAN spire-type actin nucleation factor 2 372 transport cytoplasm|cytoskeleton actin binding p.L372V(1) central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0286) GTTTGGCTCTCTGCCCTGCAT 0.657000 60 229 0 0 0.139131 0 0 SPEN 23013 broad.mit.edu 37 1 16256134 16256134 + Silent SNP T T C TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr1:16256134T>C ENST00000375759.3 + 11 3603 c.3399T>C c.(3397-3399)taT>taC p.Y1133Y NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 1133 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding p.Y1133Y(1) NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) GGAAAAACTATTGCAGTCTTC 0.408000 7 16 0 0 0.029380 0 0 TNXB 7148 broad.mit.edu 37 6 32021483 32021483 + Missense_Mutation SNP C C T TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr6:32021483C>T ENST00000375244.3 - 25 8674 c.8473G>A c.(8473-8475)Gag>Aag p.E2825K TNXB_ENST00000375247.2_Splice_Site P22105 TENX_HUMAN tenascin XB 2880 Fibronectin type-III 20. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding p.E2825K(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 GCTTCATCCTCTGGAGCTGGA 0.587000 14 42 0 0 0.105934 0 0 FTHL17 53940 broad.mit.edu 37 X 31089732 31089732 + Missense_Mutation SNP C C G TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chrX:31089732C>G ENST00000359202.3 - 1 438 c.339G>C c.(337-339)caG>caC p.Q113H NM_031894.2 NP_114100.1 Q9BXU8 FHL17_HUMAN ferritin, heavy polypeptide-like 17 113 Ferritin-like diiron. cellular iron ion homeostasis|iron ion transport ferric iron binding|oxidoreductase activity p.Q113H(2) endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 23 CCAGCAGGCTCTGGTTGACGT 0.602000 47 128 0 0 0.139131 0 0 WDR24 84219 broad.mit.edu 37 16 735981 735981 + Silent SNP C C A TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr16:735981C>A ENST00000293883.4 - 5 2220 c.1461G>T c.(1459-1461)ctG>ctT p.L487L WDR24_ENST00000248142.6_Silent_p.L617L NM_032259.2 NP_115635.1 Q96S15 WDR24_HUMAN WD repeat domain 24 617 p.L487L(1)|p.L617L(1) breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3) 19 Hepatocellular(780;0.0218) CCATATCCTTCAGGTTGAAAC 0.652000 4 96 0.184627 0.186551 0.184627 1 0 ABCA2 20 broad.mit.edu 37 9 139903823 139903823 + Splice_Site SNP G G A TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr9:139903823G>A ENST00000265662.5 - 45 6973 c.6826C>T c.(6826-6828)Cgg>Tgg p.R2276W ABCA2_ENST00000371605.3_Splice_Site_p.R2275W|ABCA2_ENST00000341511.6_Splice_Site_p.R2276W Q9BZC7 ABCA2_HUMAN ATP-binding cassette, sub-family A (ABC1), member 2 2275 ABC transporter 2. cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center ATP binding|ATPase activity, coupled to transmembrane movement of substances p.R2276W(1) central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 41 all_cancers(76;0.16) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) ccGGCTCACCGGTTCTTCAGG 0.741000 7 13 0 0 0.029380 0 0 SLC26A9 115019 broad.mit.edu 37 1 205892742 205892742 + Splice_Site SNP C C T TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr1:205892742C>T ENST00000367135.3 - 14 1610 c.e14-1 SLC26A9_ENST00000367134.2_Splice_Site|SLC26A9_ENST00000340781.4_Splice_Site NM_052934.3 NP_443166.1 Q7LBE3 S26A9_HUMAN solute carrier family 26 (anion exchanger), member 9 integral to membrane chloride channel activity|secondary active sulfate transmembrane transporter activity p.?(2) NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5) 52 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0458) GCCATTTCGACTGGATGAAGC 0.507000 6 130 0 0 0.021553 0 0 FAM83C 128876 broad.mit.edu 37 20 33874706 33874706 + Missense_Mutation SNP G G A rs141772980 TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr20:33874706G>A ENST00000374408.3 - 4 1972 c.1876C>T c.(1876-1878)Cgg>Tgg p.R626W NM_178468.5 NP_848563.1 Q9BQN1 FA83C_HUMAN family with sequence similarity 83, member C 626 p.R626W(1) 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) GTCTGCCGCCGCTCATCTGGT 0.627000 53 56 0 0 0.139131 0 0 RPS2 6187 broad.mit.edu 37 16 2012182 2012182 + Nonsense_Mutation SNP G G A TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr16:2012182G>A ENST00000343262.4 - 7 855 c.799C>T c.(799-801)Cag>Tag p.Q267* RPS2_ENST00000529806.1_3'UTR|RPS2_ENST00000530225.1_3'UTR|RPS2_ENST00000526522.1_Nonsense_Mutation_p.Q209* NM_002952.3 NP_002943.2 P15880 RS2_HUMAN ribosomal protein S2 267 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|nucleoplasm fibroblast growth factor 1 binding|fibroblast growth factor 3 binding|RNA binding|structural constituent of ribosome p.Q267*(2) endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2) 7 GTGAACTCCTGATAGGGAGAC 0.512000 15 56 0 0 0.160694 0 0 ZNF135 7694 broad.mit.edu 37 19 58574893 58574893 + Silent SNP C C T TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr19:58574893C>T ENST00000506786.1 + 4 668 c.114C>T c.(112-114)ccC>ccT p.P38P ZNF135_ENST00000439855.2_Silent_p.P80P|ZNF135_ENST00000401053.4_Silent_p.P92P|ZNF135_ENST00000511556.1_Silent_p.P80P|ZNF135_ENST00000313434.5_Silent_p.P80P|ZNF135_ENST00000359978.6_Silent_p.P92P B4DHH9 B4DHH9_HUMAN zinc finger protein 135 80 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.P80P(1)|p.P92P(1) breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1) 41 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161) CTAGACTTCCCCAAGGCGTGT 0.567000 36 44 0 0 0.092188 0 0 SAGE1 55511 broad.mit.edu 37 X 134987445 134987445 + Missense_Mutation SNP G G T TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chrX:134987445G>T ENST00000535938.1 + 5 515 c.348G>T c.(346-348)agG>agT p.R116S SAGE1_ENST00000324447.3_Missense_Mutation_p.R116S|SAGE1_ENST00000370709.3_Missense_Mutation_p.R116S|SAGE1_ENST00000537770.1_Missense_Mutation_p.R116S NM_018666.2 NP_061136.2 Q9NXZ1 SAGE1_HUMAN sarcoma antigen 1 116 p.R116S(1) breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 Acute lymphoblastic leukemia(192;0.000127) GTGAAGAGAGGATGGAAAATG 0.463000 20 96 4.96729e-08 5.19957e-08 0.204396 1 0 OR10G8 219869 broad.mit.edu 37 11 123900682 123900682 + Missense_Mutation SNP C C T TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr11:123900682C>T ENST00000431524.1 + 1 386 c.353C>T c.(352-354)tCc>tTc p.S118F NM_001004464.1 NP_001004464.1 Q8NGN5 O10G8_HUMAN olfactory receptor, family 10, subfamily G, member 8 118 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S118F(1) breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) AGGGTCATGTCCTGTGATCGC 0.562000 49 94 0 0 0.139131 0 0 KLF9 687 broad.mit.edu 37 9 73002701 73002701 + Silent SNP G G A rs140753874 byFrequency TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr9:73002701G>A ENST00000377126.2 - 2 1986 c.726C>T c.(724-726)aaC>aaT p.N242N NM_001206.2 NP_001197.1 Q13886 KLF9_HUMAN Kruppel-like factor 9 242 regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.N242N(1) endometrium(2)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1) 9 CTCACAAAGCGTTGGCCAGCG 0.582000 26 67 0 0 0.099896 0 0 NCBP2L 392517 broad.mit.edu 37 X 107037530 107037530 + Missense_Mutation SNP G G C TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chrX:107037530G>C ENST00000509000.2 + 2 278 c.80G>C c.(79-81)cGt>cCt p.R27P NCBP2L_ENST00000372379.2_Missense_Mutation_p.R27P nuclear cap binding protein subunit 2-like p.R315P(1) large_intestine(1)|lung(2)|skin(1)|urinary_tract(1) 5 TTCAGTGGCCGTAAATTTCAG 0.433000 10 42 0 0 0.069234 0 0 MMEL1 79258 broad.mit.edu 37 1 2541243 2541243 + Missense_Mutation SNP G G A TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr1:2541243G>A ENST00000288709.6 - 5 533 c.293C>T c.(292-294)cCg>cTg p.P98L MMEL1_ENST00000378412.3_Missense_Mutation_p.P107L|MMEL1_ENST00000502556.1_Missense_Mutation_p.P107L NM_033467.3 NP_258428.2 Q495T6 MMEL1_HUMAN membrane metallo-endopeptidase-like 1 107 proteolysis extracellular region|integral to membrane|intracellular membrane-bounded organelle metal ion binding|metalloendopeptidase activity p.P98L(1) cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1) 27 all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634) all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131) TTCCGTGGTCGGGTCCATGTT 0.597000 19 66 0 0 0.204396 0 0 UNC79 57578 broad.mit.edu 37 14 94155067 94155067 + Silent SNP C C G TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr14:94155067C>G ENST00000553484.1 + 46 7303 c.7149C>G c.(7147-7149)ctC>ctG p.L2383L UNC79_ENST00000555664.1_Silent_p.L2322L|UNC79_ENST00000256339.4_Silent_p.L2184L|UNC79_ENST00000393151.2_Silent_p.L2361L Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 2361 integral to membrane p.L2184L(1)|p.L2383L(1) breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 GGGGACATCTCAAAGTGGGGC 0.507000 59 44 0 0 0.139131 0 0 TP53 7157 broad.mit.edu 37 17 7577114 7577114 + Missense_Mutation SNP C C T TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr17:7577114C>T ENST00000420246.2 - 8 956 c.824G>A c.(823-825)tGt>tAt p.C275Y TP53_ENST00000455263.2_Missense_Mutation_p.C275Y|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.C275Y|TP53_ENST00000269305.4_Missense_Mutation_p.C275Y|TP53_ENST00000359597.4_Missense_Mutation_p.C275Y NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 275 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.C275Y(53)|p.C275F(37)|p.0?(8)|p.C275fs*70(3)|p.?(2)|p.C275S(2)|p.C275fs*20(1)|p.L265_K305del41(1)|p.R273_C275delRVC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.A276fs*29(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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) AGGACAGGCACAAACACGCAC 0.552000 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) 57 0 0 0 0.139131 0 0 C14orf93 60686 broad.mit.edu 37 14 23457182 23457182 + Missense_Mutation SNP C C T TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr14:23457182C>T ENST00000299088.6 - 6 1556 c.1127G>A c.(1126-1128)cGc>cAc p.R376H RP11-298I3.4_ENST00000557615.1_RNA|C14orf93_ENST00000341470.4_Missense_Mutation_p.R376H|C14orf93_ENST00000397377.1_Missense_Mutation_p.R196H|C14orf93_ENST00000397382.4_Missense_Mutation_p.R376H|RP11-298I3.4_ENST00000555294.1_RNA|C14orf93_ENST00000406429.2_Missense_Mutation_p.R376H|C14orf93_ENST00000397379.3_Missense_Mutation_p.R376H|RP11-298I3.4_ENST00000556503.1_RNA NM_001130708.1|NM_021944.2 NP_001124180.1|NP_068763.2 Q9H972 CN093_HUMAN chromosome 14 open reading frame 93 376 extracellular region p.R376H(1) kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1) 17 all_cancers(95;3.3e-05) GBM - Glioblastoma multiforme(265;0.0127) CAGGGAGTTGCGGTACTCACG 0.532000 80 86 0 0 0.139131 0 0 CDH12 1010 broad.mit.edu 37 5 22078733 22078733 + Missense_Mutation SNP C C T TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr5:22078733C>T ENST00000382254.1 - 5 1139 c.53G>A c.(52-54)gGt>gAt p.G18D CDH12_ENST00000522262.1_Missense_Mutation_p.G18D|CDH12_ENST00000504376.2_Missense_Mutation_p.G18D NM_004061.3 NP_004052.2 P55289 CAD12_HUMAN cadherin 12, type 2 (N-cadherin 2) 18 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.G18D(1) NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 TGTTAGGAGACCTCCATCAAA 0.453000 HNSCC(59;0.17) 53 140 0 0 0.139131 0 0 USP10 9100 broad.mit.edu 37 16 84793807 84793807 + Missense_Mutation SNP C C T TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr16:84793807C>T ENST00000219473.7 + 8 1593 c.1480C>T c.(1480-1482)Cgc>Tgc p.R494C USP10_ENST00000570191.1_Missense_Mutation_p.R498C NM_001272075.1|NM_005153.2 NP_001259004.1|NP_005144.2 Q14694 UBP10_HUMAN ubiquitin specific peptidase 10 494 DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process early endosome|intermediate filament cytoskeleton|nucleus cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity p.R494C(1) endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1) 17 GAGGGATATTCGCCCTGGAGC 0.413000 5 23 0 0 0.184627 0 0 RSPRY1 89970 broad.mit.edu 37 16 57250884 57250884 + Missense_Mutation SNP A A G TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr16:57250884A>G ENST00000537866.1 + 8 1711 c.838A>G c.(838-840)Aat>Gat p.N280D RSPRY1_ENST00000394420.4_Missense_Mutation_p.N280D Q96DX4 RSPRY_HUMAN ring finger and SPRY domain containing 1 280 extracellular region zinc ion binding p.N280D(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3) 27 GTCCTGGGCTAATGATCCTGA 0.393000 40 170 0 0 0.098360 0 0 SYNE1 23345 broad.mit.edu 37 6 152748941 152748941 + Missense_Mutation SNP C C T TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr6:152748941C>T ENST00000367255.5 - 38 5588 c.4987G>A c.(4987-4989)Gaa>Aaa p.E1663K SYNE1_ENST00000423061.1_Missense_Mutation_p.E1670K|SYNE1_ENST00000367253.4_Missense_Mutation_p.E1663K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E1670K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E1733K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E1663K NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 1663 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding p.E1663K(2)|p.E1670K(1) NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) GATGATAGTTCTTTCTCTAGC 0.418000 HNSCC(10;0.0054) 28 54 0 0 0.153744 0 0 ZNF296 162979 broad.mit.edu 37 19 45579562 45579562 + Missense_Mutation SNP C C T TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr19:45579562C>T ENST00000303809.2 - 1 284 c.70G>A c.(70-72)Gag>Aag p.E24K NM_145288.1 NP_660331.1 Q8WUU4 ZN296_HUMAN zinc finger protein 296 24 regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E24K(1) breast(1)|lung(3)|prostate(1)|urinary_tract(2) 7 ATTTCCATCTCGTCGTCTGGG 0.726000 13 38 0 0 0.146539 0 0 CEACAM4 1089 broad.mit.edu 37 19 42132050 42132050 + Missense_Mutation SNP C C A TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr19:42132050C>A ENST00000221954.2 - 2 459 c.349G>T c.(349-351)Gca>Tca p.A117S CEACAM4_ENST00000600925.1_Missense_Mutation_p.A117S NM_001817.2 NP_001808.2 O75871 CEAM4_HUMAN carcinoembryonic antigen-related cell adhesion molecule 4 117 Ig-like V-type. integral to plasma membrane|membrane fraction p.A117S(1) NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1) 16 TAGGATCCTGCGTCCTCCAGG 0.527000 70 187 1.08321e-29 1.2031e-29 0.139131 1 0 CACNA1B 774 broad.mit.edu 37 9 140901335 140901335 + Splice_Site SNP C C A TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr9:140901335C>A ENST00000371372.1 + 16 2236 c.2091C>A c.(2089-2091)aaC>aaA p.N697K CACNA1B_ENST00000371363.1_Splice_Site_p.N697K|CACNA1B_ENST00000371355.4_Splice_Site_p.N698K|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000277551.2_Splice_Site_p.N697K|CACNA1B_ENST00000371357.1_Splice_Site_p.N698K NM_000718.3|NM_001243812.1 NP_000709.1|NP_001230741.1 Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 697 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity p.N697K(1) NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) TGTTCGGAAACTGTATCCTTC 0.572000 12 13 0.010729 0.0109166 0.080935 1 0 LTBP1 4052 broad.mit.edu 37 2 33614357 33614357 + Silent SNP C C T TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr2:33614357C>T ENST00000404816.2 + 32 5171 c.4818C>T c.(4816-4818)ccC>ccT p.P1606P LTBP1_ENST00000402934.1_Silent_p.P1225P|LTBP1_ENST00000390003.4_Silent_p.P1281P|LTBP1_ENST00000354476.3_Silent_p.P1607P|LTBP1_ENST00000407925.1_Silent_p.P1280P|LTBP1_ENST00000272273.5_Silent_p.P504P|LTBP1_ENST00000418533.2_Silent_p.P1238P|LTBP1_ENST00000404525.1_Silent_p.P1227P Q14766 LTBP1_HUMAN latent transforming growth factor beta binding protein 1 1606 negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity p.P1607P(1) breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) AAGCCGATCCCTACTTCATCC 0.468000 29 83 0 0 0.092188 0 0 ADAMTSL1 92949 broad.mit.edu 37 9 18753463 18753463 + Missense_Mutation SNP G G A TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr9:18753463G>A ENST00000380548.4 + 16 2513 c.2174G>A c.(2173-2175)cGc>cAc p.R725H NM_001040272.5 NP_001035362.3 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 725 TSP type-1 6. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding p.R725H(1) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(50;1.29e-17) GCTTGTAACCGCTTTAATTGC 0.512000 6 33 0 0 0.021553 0 0 HELZ2 85441 broad.mit.edu 37 20 62195200 62195200 + Missense_Mutation SNP C C T TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr20:62195200C>T ENST00000467148.1 - 8 5044 c.4975G>A c.(4975-4977)Ggc>Agc p.G1659S HELZ2_ENST00000427522.2_Missense_Mutation_p.G1090S NM_001037335.2 NP_001032412.2 helicase with zinc finger 2, transcriptional coactivator p.G1659S(1) GAGTAGTGGCCGCCCTGCTGC 0.711000 6 10 0 0 0.038147 0 0 C1orf198 84886 broad.mit.edu 37 1 231004093 231004093 + Missense_Mutation SNP G G T TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr1:231004093G>T ENST00000366663.5 - 1 306 c.166C>A c.(166-168)Ccc>Acc p.P56T C1orf198_ENST00000427697.2_Intron|C1orf198_ENST00000470540.1_Missense_Mutation_p.P18T NM_032800.2 NP_116189.1 Q9H425 CA198_HUMAN chromosome 1 open reading frame 198 56 p.P56T(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 17 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.178) GCCCACTCGGGCCCGTACTTC 0.697000 20 33 6.12954e-19 6.70562e-19 0.099896 1 0 XPO7 23039 broad.mit.edu 37 8 21827081 21827081 + Missense_Mutation SNP G G A TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr8:21827081G>A ENST00000434536.1 + 3 355 c.253G>A c.(253-255)Gat>Aat p.D85N XPO7_ENST00000518017.1_3'UTR|XPO7_ENST00000433566.4_Missense_Mutation_p.D86N|XPO7_ENST00000252512.9_Missense_Mutation_p.D85N Q9UIA9 XPO7_HUMAN exportin 7 85 Importin N-terminal. mRNA transport|protein export from nucleus|transmembrane transport cytoplasm|nuclear pore nuclear export signal receptor activity|protein transporter activity p.D85N(1) autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724) ACAGCGAATAGATATTCGTAA 0.393000 8 8 0 0 0.047766 0 0 VWCE 220001 broad.mit.edu 37 11 61026731 61026731 + Missense_Mutation SNP C C T TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr11:61026731C>T ENST00000335613.5 - 20 2670 c.2284G>A c.(2284-2286)Gca>Aca p.A762T VWCE_ENST00000535710.1_Missense_Mutation_p.A227T NM_152718.2 NP_689931.2 Q96DN2 VWCE_HUMAN von Willebrand factor C and EGF domains 762 extracellular region calcium ion binding p.A762T(1) biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 TTGCTGAATGCCACATTTCCG 0.587000 21 27 0 0 0.076483 0 0 ANKRD12 23253 broad.mit.edu 37 18 9254812 9254812 + Missense_Mutation SNP G G A TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr18:9254812G>A ENST00000262126.4 + 9 1787 c.1547G>A c.(1546-1548)aGa>aAa p.R516K ANKRD12_ENST00000383440.2_Missense_Mutation_p.R493K|ANKRD12_ENST00000400020.3_Missense_Mutation_p.R493K NM_015208.4 NP_056023.3 Q6UB98 ANR12_HUMAN ankyrin repeat domain 12 nucleus p.R516K(1) NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2) 65 GAAAAGACCAGAGAGGAGGGG 0.343000 29 52 0 0 0.134883 0 0 DNAH17 8632 broad.mit.edu 37 17 76457697 76457697 + Missense_Mutation SNP C C T TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr17:76457697C>T ENST00000389840.5 - 58 9350 c.9226G>A c.(9226-9228)Gag>Aag p.E3076K DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.E3085K dynein, axonemal, heavy chain 17 p.E3085K(1) NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) TTCTCGGCCTCGATGCCGACC 0.542000 6 17 0 0 0.021553 0 0 SCN7A 6332 broad.mit.edu 37 2 167263124 167263124 + Missense_Mutation SNP G G C TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr2:167263124G>C ENST00000409855.1 - 25 4141 c.4015C>G c.(4015-4017)Ctt>Gtt p.L1339V NM_002976.3 NP_002967.2 Q01118 SCN7A_HUMAN sodium channel, voltage-gated, type VII, alpha subunit 1339 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity p.L1339V(2) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1) 44 GGAGGCACAAGGTAGGATCCT 0.423000 39 2 0 0 0.092188 0 0 ZNF419 79744 broad.mit.edu 37 19 58004247 58004247 + Missense_Mutation SNP G G A TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr19:58004247G>A ENST00000424930.2 + 5 554 c.325G>A c.(325-327)Gag>Aag p.E109K ZNF419_ENST00000426954.2_Missense_Mutation_p.E96K|ZNF419_ENST00000415379.2_Missense_Mutation_p.E62K|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000221735.7_Missense_Mutation_p.E108K|ZNF419_ENST00000354197.4_Missense_Mutation_p.E96K|ZNF419_ENST00000347466.6_Missense_Mutation_p.E76K|ZNF419_ENST00000442920.2_Missense_Mutation_p.E95K NM_001098491.1|NM_024691.3 NP_001091961.1|NP_078967.3 Q96HQ0 ZN419_HUMAN zinc finger protein 419 108 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E76K(1)|p.?(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171) AGCCGAGGCTGAGGAGGCTCC 0.468000 55 53 0 0 0.139131 0 0 ZSCAN10 84891 broad.mit.edu 37 16 3142561 3142561 + Nonsense_Mutation SNP G G A TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr16:3142561G>A ENST00000538082.2 - 2 550 c.235C>T c.(235-237)Cag>Tag p.Q79* ZSCAN10_ENST00000252463.2_Silent_p.P71P|ZSCAN10_ENST00000572548.1_Intron|ZSCAN10_ENST00000575108.1_Intron NM_001282416.1 NP_001269345.1 Q96SZ4 ZSC10_HUMAN zinc finger and SCAN domain containing 10 157 negative regulation of transcription, DNA-dependent|viral reproduction nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.P71P(1) breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1) 24 CCGCGTGGCTGGGCTCCCGGT 0.682000 2 0 0 0 0.115264 0 0 FAM227B 196951 broad.mit.edu 37 15 49882012 49882012 + Missense_Mutation SNP A A G TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr15:49882012A>G ENST00000299338.6 - 4 601 c.298T>C c.(298-300)Tct>Cct p.S100P FAM227B_ENST00000560246.1_Missense_Mutation_p.S100P|FAM227B_ENST00000558862.1_5'UTR|FAM227B_ENST00000558594.1_Missense_Mutation_p.S100P|FAM227B_ENST00000561064.1_Missense_Mutation_p.S100P NM_152647.2 NP_689860.2 family with sequence similarity 227, member B p.S100P(1) AATATTTCAGAGGTGTGGTTT 0.328000 10 22 0 0 0.058154 0 0 SLC29A4 222962 broad.mit.edu 37 7 5330456 5330456 + Missense_Mutation SNP T T C TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr7:5330456T>C ENST00000396872.3 + 3 424 c.263T>C c.(262-264)tTc>tCc p.F88S SLC29A4_ENST00000406453.3_Missense_Mutation_p.F88S|SLC29A4_ENST00000297195.4_Missense_Mutation_p.F88S Q7RTT9 S29A4_HUMAN solute carrier family 29 (equilibrative nucleoside transporter), member 4 nucleobase, nucleoside and nucleotide metabolic process apical plasma membrane|integral to membrane nucleoside transmembrane transporter activity p.F88S(1) breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1) 20 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15) TACAACAGCTTCATCACGGAC 0.602000 4 94 0 0 0.047766 0 0 GRIK2 2898 broad.mit.edu 37 6 102069950 102069950 + Missense_Mutation SNP A A G TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr6:102069950A>G ENST00000369138.1 + 2 732 c.242A>G c.(241-243)cAg>cGg p.Q81R GRIK2_ENST00000369137.3_Missense_Mutation_p.Q81R|GRIK2_ENST00000369134.4_Missense_Mutation_p.Q32R|GRIK2_ENST00000421544.1_Missense_Mutation_p.Q81R|GRIK2_ENST00000318991.6_Missense_Mutation_p.Q81R|GRIK2_ENST00000413795.1_Missense_Mutation_p.Q81R|GRIK2_ENST00000358361.3_Missense_Mutation_p.Q81R NM_001166247.1 NP_001159719.1 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 81 glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity p.Q81R(2) NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) TATGATACCCAGAAGATAAAC 0.358000 55 39 0 0 0.139131 0 0 FOLH1B 219595 broad.mit.edu 37 11 89424054 89424054 + RNA SNP C C T TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr11:89424054C>T ENST00000532352.1 + 0 1517 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity p.T235I(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 CTGTAGGAAACAAACAAATTC 0.318000 7 68 0 0 0.047766 0 0 MTM1 4534 broad.mit.edu 37 X 149809883 149809883 + Nonsense_Mutation SNP C C T rs132630306 TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chrX:149809883C>T ENST00000370396.2 + 8 724 c.670C>T c.(670-672)Cga>Tga p.R224* MTM1_ENST00000413012.2_Nonsense_Mutation_p.R187*|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000543350.1_Nonsense_Mutation_p.R109*|MTM1_ENST00000542741.1_Nonsense_Mutation_p.R129* NM_000252.2 NP_000243.1 Q13496 MTM1_HUMAN myotubularin 1 224 Myotubularin phosphatase. endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization filopodium|late endosome|plasma membrane|ruffle intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity p.R224*(1) breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Acute lymphoblastic leukemia(192;6.56e-05) GTCCCGAAATCGAATTCCAGT 0.438000 25 106 0 0 0.108266 0 0 SCO1 6341 broad.mit.edu 37 17 10600714 10600714 + Silent SNP C C G TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr17:10600714C>G ENST00000255390.5 - 1 171 c.111G>C c.(109-111)gcG>gcC p.A37A SCO1_ENST00000582053.1_Intron|SCO1_ENST00000577427.1_Silent_p.A37A NM_004589.2 NP_004580.1 O75880 SCO1_HUMAN SCO1 cytochrome c oxidase assembly protein 37 cellular copper ion homeostasis|copper ion transport|generation of precursor metabolites and energy|respiratory chain complex IV assembly mitochondrial inner membrane copper ion binding p.A37A(1) cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1) 10 GCAAGACTCTCGCAGTCCCCT 0.672000 19 2 0 0 0.204396 0 0 A2M 2 broad.mit.edu 37 12 9259153 9259153 + Nonsense_Mutation SNP G G A TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr12:9259153G>A ENST00000318602.7 - 9 1235 c.928C>T c.(928-930)Cag>Tag p.Q310* NM_000014.4 NP_000005 P01023 A2MG_HUMAN alpha-2-macroglobulin 310 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding p.Q310*(1) breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 77 Bacitracin(DB00626)|Becaplermin(DB00102) CTCTTCAGCTGGAAGACCTTG 0.368000 3 12 0 0 0.150653 0 0 RNF135 84282 broad.mit.edu 37 17 29311659 29311659 + Missense_Mutation SNP G G A TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr17:29311659G>A ENST00000328381.5 + 2 1270 c.397G>A c.(397-399)Gaa>Aaa p.E133K RNF135_ENST00000443677.2_Intron|RNF135_ENST00000535306.2_Missense_Mutation_p.E133K|RNF135_ENST00000324689.4_Missense_Mutation_p.E133K NM_032322.3 NP_115698.3 Q8IUD6 RN135_HUMAN ring finger protein 135 133 innate immune response|negative regulation of type I interferon production|positive regulation of interferon-beta production|regulation of innate immune response cytosol protein binding|ribonucleoprotein binding|ubiquitin-protein ligase activity|zinc ion binding p.E133K(1)|p.?(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1) 10 all_cancers(10;8.65e-08)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Myeloproliferative disorder(56;0.0255) GAGCATCACAGAAGTTGCTCA 0.483000 32 96 0 0 0.163468 0 0 CDK18 5129 broad.mit.edu 37 1 205492699 205492699 + Silent SNP C C T TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr1:205492699C>T ENST00000360066.2 + 3 520 c.219C>T c.(217-219)ctC>ctT p.L73L CDK18_ENST00000429964.2_Silent_p.L73L|CDK18_ENST00000506784.1_Silent_p.L73L|CDK18_ENST00000509056.1_Intron NM_002596.3|NM_212502.2|NM_212503.2 NP_002587.2|NP_997667.1|NP_997668.1 Q07002 CDK18_HUMAN cyclin-dependent kinase 18 71 ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity p.L73L(2) breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1) 19 CGGGGCAGCTCTCCCCTGGCG 0.672000 3 16 0 0 0.184627 0 0 ATP8B3 148229 broad.mit.edu 37 19 1807231 1807231 + Missense_Mutation SNP G G A TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr19:1807231G>A ENST00000539485.1 - 6 784 c.551C>T c.(550-552)tCg>tTg p.S184L ATP8B3_ENST00000310127.6_Missense_Mutation_p.S184L|ATP8B3_ENST00000526092.2_Missense_Mutation_p.S131L|ATP8B3_ENST00000525591.1_Missense_Mutation_p.S131L O60423 AT8B3_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 3 184 ATP biosynthetic process ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity p.S184L(1) central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 23 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGTACTGAGCGAGAACCAGGG 0.642000 52 89 0 0 0.139131 0 0 DNAH5 1767 broad.mit.edu 37 5 13737394 13737394 + Nonsense_Mutation SNP G G A TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr5:13737394G>A ENST00000265104.4 - 66 11526 c.11422C>T c.(11422-11424)Caa>Taa p.Q3808* NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3808 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.Q3808*(1) 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) GAGTTAATTTGAACTTCTGTC 0.423000 Kartagener syndrome 45 154 0 0 0.131918 0 0 CACNA1E 777 broad.mit.edu 37 1 181767565 181767565 + Silent SNP G G A TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr1:181767565G>A ENST00000526775.1 + 46 6516 c.6351G>A c.(6349-6351)gcG>gcA p.A2117A CACNA1E_ENST00000360108.3_Silent_p.A2160A|CACNA1E_ENST00000367567.4_Silent_p.A1743A|CACNA1E_ENST00000357570.5_Silent_p.A2130A|CACNA1E_ENST00000367570.1_Silent_p.A2136A|CACNA1E_ENST00000367573.2_Silent_p.A2179A|CACNA1E_ENST00000358338.5_Silent_p.A2068A NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 2179 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity p.A2136A(1)|p.A2179A(1) NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 TTCGACACGCGGGCAGCATCT 0.622000 103 70 0 0 0.139131 0 0 ZNHIT6 54680 broad.mit.edu 37 1 86123573 86123573 + Silent SNP C C T TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr1:86123573C>T ENST00000431532.2 - 10 1360 c.1212G>A c.(1210-1212)gtG>gtA p.V404V ZNHIT6_ENST00000370574.3_Silent_p.V443V NM_001170670.1|NM_017953.3 NP_001164141.1|NP_060423.3 Q9NWK9 BCD1_HUMAN zinc finger, HIT-type containing 6 443 box C/D snoRNP assembly|ribosome biogenesis pre-snoRNP complex identical protein binding|metal ion binding p.V443V(1) autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1) 17 CTTTCAATACCACATGTAATG 0.299000 25 84 0 0 0.083992 0 0 KDM6A 7403 broad.mit.edu 37 X 44929219 44929219 + Silent SNP A A G TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chrX:44929219A>G ENST00000377967.4 + 17 2360 c.2319A>G c.(2317-2319)ctA>ctG p.L773L KDM6A_ENST00000382899.4_Silent_p.L780L|KDM6A_ENST00000536777.1_Silent_p.L728L|KDM6A_ENST00000543216.1_Silent_p.L694L NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A 773 histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0?(6)|p.L773L(1) NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29) 170 CAGGTTTACTAAGTTCAGACA 0.478000 """D, N, F, S""" """renal, oesophageal SCC, MM""" 22 25 0 0 0.069288 0 0 OR51G2 81282 broad.mit.edu 37 11 4936818 4936818 + Missense_Mutation SNP C C G TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr11:4936818C>G ENST00000322013.3 - 1 104 c.76G>C c.(76-78)Gag>Cag p.E26Q MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001005238.1 NP_001005238.1 Q8NGK0 O51G2_HUMAN olfactory receptor, family 51, subfamily G, member 2 26 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.E26Q(1) autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) TGCATGCGCTCCAGCCCAGGG 0.532000 16 67 0 0 0.204396 0 0 FAM86C2P 645332 broad.mit.edu 37 11 67559821 67559821 + RNA SNP G G C TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr11:67559821G>C ENST00000528089.1 - 0 1929 TCCTGGGCCAGAGGCTAAAAC 0.587000 14 34 0 0 0.175082 0 0 S100G 795 broad.mit.edu 37 X 16669143 16669143 + Missense_Mutation SNP A A T TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chrX:16669143A>T ENST00000380200.3 + 2 68 c.14A>T c.(13-15)aAg>aTg p.K5M CTPS2_ENST00000380241.3_Intron|CTPS2_ENST00000443824.1_Intron|CTPS2_ENST00000359276.4_Intron NM_004057.2 NP_004048.1 P29377 S100G_HUMAN S100 calcium binding protein G 5 calcium ion binding|vitamin D binding p.K5M(1) large_intestine(1)|lung(1) 2 Hepatocellular(33;0.0997) AGTACTAAAAAGTCTCCTGAG 0.383000 32 132 0 0 0.163468 0 0 OR51Q1 390061 broad.mit.edu 37 11 5443929 5443929 + Nonsense_Mutation SNP C C T TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr11:5443929C>T ENST00000300778.4 + 1 589 c.499C>T c.(499-501)Cga>Tga p.R167* HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron NM_001004757.2 NP_001004757.1 Q8NH59 O51Q1_HUMAN olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene) 167 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R167*(1) endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 37 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTTACTCAAGCGACTGCCTTT 0.517000 44 150 0 0 0.104719 0 0 DMXL2 23312 broad.mit.edu 37 15 51790751 51790751 + Missense_Mutation SNP G G A TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr15:51790751G>A ENST00000251076.5 - 18 4957 c.4670C>T c.(4669-4671)tCa>tTa p.S1557L RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Intron|DMXL2_ENST00000543779.2_Missense_Mutation_p.S1557L NM_001174116.1|NM_015263.3 NP_001167587.1|NP_056078.2 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 1557 cell junction|synaptic vesicle membrane Rab GTPase binding p.S1557L(1) breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) ATATTTACCTGAGCAACTCTT 0.373000 13 22 0 0 0.105934 0 0 POLE2 5427 broad.mit.edu 37 14 50154880 50154880 + Missense_Mutation SNP G G C TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr14:50154880G>C ENST00000539565.2 - 1 260 c.42C>G c.(40-42)ttC>ttG p.F14L POLE2_ENST00000554396.1_Missense_Mutation_p.F14L|POLE2_ENST00000556584.1_5'UTR|POLE2_ENST00000216367.5_Missense_Mutation_p.F14L|POLE2_ENST00000553805.2_Missense_Mutation_p.F14L NM_001197330.1 NP_001184259.1 P56282 DPOE2_HUMAN polymerase (DNA directed), epsilon 2, accessory subunit 14 DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm DNA binding|DNA-directed DNA polymerase activity p.F14L(1) kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 10 all_epithelial(31;0.0021)|Breast(41;0.0124) CCCGCAACTTGAAGGCGGAGA 0.731000 2 6 0 0 0.115264 0 0 ADAMTSL2 9719 broad.mit.edu 37 9 136402526 136402526 + Splice_Site SNP G G A TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr9:136402526G>A ENST00000393061.3 + 3 849 c.e3-1 ADAMTSL2_ENST00000393060.1_Splice_Site|ADAMTSL2_ENST00000354484.4_Splice_Site Q86TH1 ATL2_HUMAN ADAMTS-like 2 negative regulation of transforming growth factor beta receptor signaling pathway proteinaceous extracellular matrix metalloendopeptidase activity|protein binding|zinc ion binding p.?(1) kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06) CTCTCACCCAGGACAACAGCC 0.667000 41 78 0 0 0.124865 0 0 MUC5B 727897 broad.mit.edu 37 11 1269778 1269778 + Missense_Mutation SNP T T C TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr11:1269778T>C ENST00000447027.1 + 31 11735 c.11677T>C c.(11677-11679)Tgg>Cgg p.W3893R RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.W3890R Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 3890 11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding p.W3845R(1)|p.W3890R(1) cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) GCCTCCAGTGTGGATCAGCAC 0.652000 20 23 0 0 0.055883 0 0 CPNE9 151835 broad.mit.edu 37 3 9768403 9768403 + Missense_Mutation SNP G G C TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr3:9768403G>C ENST00000383832.3 + 19 1589 c.1399G>C c.(1399-1401)Gag>Cag p.E467Q CPNE9_ENST00000383831.3_Missense_Mutation_p.E467Q NM_153635.2 NP_705899.2 Q8IYJ1 CPNE9_HUMAN copine family member IX 467 VWFA. p.E467Q(1) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 16 Medulloblastoma(99;0.227) AGCCATGTTTGAGGGTGAGTA 0.542000 22 58 0 0 0.086207 0 0 TRIM68 55128 broad.mit.edu 37 11 4626603 4626603 + Nonsense_Mutation SNP C C T TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr11:4626603C>T ENST00000300747.5 - 2 421 c.132G>A c.(130-132)tgG>tgA p.W44* NM_018073.6 NP_060543.5 Q6AZZ1 TRI68_HUMAN tripartite motif containing 68 44 W -> R (in Ref. 3; BAG51737). protein autoubiquitination|regulation of androgen receptor signaling pathway Golgi apparatus|nucleolus|perinuclear region of cytoplasm androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding p.W44*(1) breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1) 15 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192) CTGGGATCTCCCAGAGTCCAG 0.577000 30 49 0 0 0.134883 0 0 PTPN12 5782 broad.mit.edu 37 7 77265144 77265144 + Missense_Mutation SNP G G A rs144099562 by1000genomes TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr7:77265144G>A ENST00000248594.6 + 15 2392 c.2120G>A c.(2119-2121)cGa>cAa p.R707Q PTPN12_ENST00000415482.2_Missense_Mutation_p.R588Q|PTPN12_ENST00000435495.2_Missense_Mutation_p.R577Q NM_002835.3 NP_002826.3 Q05209 PTN12_HUMAN protein tyrosine phosphatase, non-receptor type 12 707 soluble fraction non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding p.R707Q(2) breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 39 AGTCAGGAACGATCTGAACAA 0.313000 16 11 0 0 0.175082 0 0 FLG2 388698 broad.mit.edu 37 1 152325595 152325595 + Missense_Mutation SNP G G C TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr1:152325595G>C ENST00000388718.5 - 3 4739 c.4667C>G c.(4666-4668)tCt>tGt p.S1556C FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 1556 calcium ion binding|structural molecule activity p.S1556C(1) NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TTCATGACCAGAGTAGGAATG 0.483000 79 355 0 0 0.139131 0 0 BCORL1 63035 broad.mit.edu 37 X 129149014 129149014 + Nonsense_Mutation SNP C C T TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chrX:129149014C>T ENST00000540052.1 + 3 2310 c.2266C>T c.(2266-2268)Caa>Taa p.Q756* BCORL1_ENST00000303743.5_Nonsense_Mutation_p.Q756*|BCORL1_ENST00000359304.2_Nonsense_Mutation_p.Q756*|BCORL1_ENST00000218147.7_Nonsense_Mutation_p.Q756* NM_021946.4 NP_068765 Q5H9F3 BCORL_HUMAN BCL6 corepressor-like 1 756 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus p.Q756*(1) breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 75 CATCATTGATCAAGGAGAGCC 0.602000 28 83 0 0 0.134883 0 0 DSG4 147409 broad.mit.edu 37 18 28956922 28956922 + Splice_Site SNP G G A TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr18:28956922G>A ENST00000359747.4 + 1 77 c.48G>A c.(46-48)atG>atA p.M16I RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000308128.4_Splice_Site_p.M16I NM_001134453.1 NP_001127925.1 Q86SJ6 DSG4_HUMAN desmoglein 4 16 homophilic cell adhesion desmosome|integral to membrane calcium ion binding p.M16I(2) NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) TCATTCTAATGGTAAGTAGAA 0.408000 7 40 0 0 0.029380 0 0 C1GALT1 56913 broad.mit.edu 37 7 7278181 7278181 + Silent SNP G G A rs138478625 TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr7:7278181G>A ENST00000436587.2 + 3 739 c.516G>A c.(514-516)acG>acA p.T172T C1GALT1_ENST00000402468.3_Silent_p.T172T|C1GALT1_ENST00000223122.3_Silent_p.T172T NM_020156.3 NP_064541.1 Q9NS00 C1GLT_HUMAN core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1 172 angiogenesis|cell differentiation|kidney development integral to membrane glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity|metal ion binding p.T172T(1) breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1) 7 UCEC - Uterine corpus endometrioid carcinoma (126;0.177) ATGATGACACGTATGTCATAC 0.363000 37 56 0 0 0.098360 0 0 GRM4 2914 broad.mit.edu 37 6 34008001 34008001 + Missense_Mutation SNP G G A TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr6:34008001G>A ENST00000538487.2 - 8 1903 c.1460C>T c.(1459-1461)gCc>gTc p.A487V GRM4_ENST00000535756.1_Missense_Mutation_p.A354V|GRM4_ENST00000374181.4_Missense_Mutation_p.A487V|GRM4_ENST00000609222.1_Missense_Mutation_p.A354V|GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000455714.2_Missense_Mutation_p.A347V|GRM4_ENST00000374177.3_Missense_Mutation_p.A371V|GRM4_ENST00000544773.2_Missense_Mutation_p.A318V NM_000841.2|NM_001256811.1 NP_000832.1|NP_001243740.1 Q14833 GRM4_HUMAN glutamate receptor, metabotropic 4 activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade cytoplasmic vesicle|integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity p.A487V(2)|p.A371V(1) NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 L-Glutamic Acid(DB00142) CTTGTACTCGGCAGAATCGTT 0.567000 5 172 0 0 0.184627 0 0 CDK5 1020 broad.mit.edu 37 7 150754194 150754194 + Missense_Mutation SNP C C T TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr7:150754194C>T ENST00000485972.1 - 2 772 c.91G>A c.(91-93)Gct>Act p.A31T CDK5_ENST00000297518.4_Missense_Mutation_p.A31T NM_004935.3 NP_004926.1 Q00535 CDK5_HUMAN cyclin-dependent kinase 5 31 Protein kinase. activation of pro-apoptotic gene products|blood coagulation|cell division|cell proliferation|embryo development|negative regulation of transcription, DNA-dependent|positive regulation of neuron apoptosis axon|cytosol|dendrite|growth cone|lamellipodium|membrane|neuromuscular junction|neuronal cell body acetylcholine receptor activator activity|ATP binding|cyclin-dependent protein kinase activity|ErbB-2 class receptor binding|ErbB-3 class receptor binding|tau-protein kinase activity p.A31T(1) central_nervous_system(1)|endometrium(2)|lung(5)|urinary_tract(1) 9 Breast(660;0.159)|Ovarian(593;0.182) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242) CGTTTCAGAGCCACGATCTCA 0.602000 68 183 0 0 0.139131 0 0 GNG3 2785 broad.mit.edu 37 11 62475847 62475847 + Missense_Mutation SNP C C G TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr11:62475847C>G ENST00000294117.5 + 2 339 c.80C>G c.(79-81)gCc>gGc p.A27G BSCL2_ENST00000405837.1_Intron|BSCL2_ENST00000433053.1_Intron|HNRNPUL2-BSCL2_ENST00000403734.2_Intron NM_012202.4 NP_036334.1 P63215 GBG3_HUMAN guanine nucleotide binding protein (G protein), gamma 3 27 activation of MAPK activity|cellular response to glucagon stimulus|energy reserve metabolic process|synaptic transmission GTPase activity|signal transducer activity p.A27G(1) kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1) 5 AAGATTGAAGCCAGCTTGTGT 0.522000 28 34 0 0 0.144211 0 0 KIAA2022 340533 broad.mit.edu 37 X 73962089 73962089 + Nonsense_Mutation SNP G G C TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chrX:73962089G>C ENST00000055682.6 - 3 2914 c.2303C>G c.(2302-2304)tCa>tGa p.S768* NM_001008537.2 NP_001008537.1 Q5QGS0 K2022_HUMAN KIAA2022 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity p.S768*(1) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 GGAACTGTTTGATGTCCCAGG 0.423000 19 64 0 0 0.204396 0 0 SESN1 27244 broad.mit.edu 37 6 109309805 109309805 + Missense_Mutation SNP C C G TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr6:109309805C>G ENST00000436639.2 - 9 2255 c.1510G>C c.(1510-1512)Gaa>Caa p.E504Q SESN1_ENST00000302071.2_Missense_Mutation_p.E379Q|SESN1_ENST00000356644.7_Missense_Mutation_p.E445Q NM_014454.2 NP_055269.1 Q9Y6P5 SESN1_HUMAN sestrin 1 445 cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus nucleus p.E504Q(1) cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 10 all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637) Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117) GTAACCTTTTCAGGAGTGCAA 0.353000 27 15 0 0 0.099896 0 0 ATAD3A 55210 broad.mit.edu 37 1 1455591 1455591 + Silent SNP G G A TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr1:1455591G>A ENST00000378755.5 + 6 823 c.729G>A c.(727-729)gcG>gcA p.A243A ATAD3A_ENST00000536055.1_Silent_p.A116A|ATAD3A_ENST00000378756.3_Silent_p.A195A NM_018188.3 NP_060658.3 Q9NVI7 ATD3A_HUMAN ATPase family, AAA domain containing 3A 243 ATP binding|nucleoside-triphosphatase activity|protein binding p.A243A(1) endometrium(4)|kidney(6)|large_intestine(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1) 20 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147) AGGCCCGGGCGCGCGCCAAGG 0.672000 11 16 0 0 0.093190 0 0 PLCG1 5335 broad.mit.edu 37 20 39798838 39798838 + Missense_Mutation SNP G G A TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr20:39798838G>A ENST00000373272.2 + 24 3142 c.2737G>A c.(2737-2739)Gcc>Acc p.A913T PLCG1_ENST00000373271.1_Missense_Mutation_p.A913T|PLCG1_ENST00000244007.3_Missense_Mutation_p.A913T NM_002660.2 NP_002651.2 P19174 PLCG1_HUMAN phospholipase C, gamma 1 913 PH 2; second part. activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway cytosol|lamellipodium|plasma membrane|ruffle calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity p.A913T(1) breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2) 46 Myeloproliferative disorder(115;0.00878) GGATGTTGCTGCCGACTCACA 0.612000 28 116 0 0 0.108266 0 0 GRIA4 2893 broad.mit.edu 37 11 105797580 105797580 + Missense_Mutation SNP C C T TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr11:105797580C>T ENST00000393127.2 + 13 2407 c.1961C>T c.(1960-1962)cCc>cTc p.P654L GRIA4_ENST00000525187.1_Missense_Mutation_p.P654L|GRIA4_ENST00000530497.1_Missense_Mutation_p.P654L|GRIA4_ENST00000282499.5_Missense_Mutation_p.P654L NM_001077243.2 NP_001070711 P48058 GRIA4_HUMAN glutamate receptor, ionotropic, AMPA 4 654 glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity p.P654L(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6) 82 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) ATGGTCTCTCCCATAGAAAGT 0.418000 17 29 0 0 0.160694 0 0 BPTF 2186 broad.mit.edu 37 17 65907526 65907526 + Missense_Mutation SNP G G A TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr17:65907526G>A ENST00000321892.4 + 13 3965 c.3904G>A c.(3904-3906)Gaa>Aaa p.E1302K BPTF_ENST00000424123.3_Missense_Mutation_p.E1163K|BPTF_ENST00000335221.5_Missense_Mutation_p.E1302K|BPTF_ENST00000306378.6_Missense_Mutation_p.E1176K Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 1302 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding p.E1176K(1)|p.E1302K(1) NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) TCGGAGCCCAGAAACAAAATG 0.388000 41 16 0 0 0.092188 0 0 SPANXN3 139067 broad.mit.edu 37 X 142596840 142596840 + Missense_Mutation SNP G G A TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chrX:142596840G>A ENST00000370503.2 - 2 313 c.230C>T c.(229-231)tCc>tTc p.S77F GS1-256O22.5_ENST00000431432.1_RNA NM_001009609.2 NP_001009609.1 Q5MJ09 SPXN3_HUMAN SPANX family, member N3 77 p.S77F(1) endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1) 14 Acute lymphoblastic leukemia(192;6.56e-05) TGGATTGATGGAGTTCTCTTG 0.393000 115 132 0 0 0.139131 0 0 FBN3 84467 broad.mit.edu 37 19 8131009 8131009 + Missense_Mutation SNP C C T TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr19:8131009C>T ENST00000600128.1 - 64 8638 c.8224G>A c.(8224-8226)Gtc>Atc p.V2742I FBN3_ENST00000601739.1_Missense_Mutation_p.V2742I|FBN3_ENST00000270509.2_Missense_Mutation_p.V2742I Q75N90 FBN3_HUMAN fibrillin 3 2742 proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent p.V2742I(1) NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 TTTCCGCGGACGATGACGTAG 0.687000 27 55 0 0 0.144211 0 0 MYH7 4625 broad.mit.edu 37 14 23884440 23884440 + Missense_Mutation SNP T T C TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr14:23884440T>C ENST00000355349.3 - 37 5485 c.5323A>G c.(5323-5325)Acc>Gcc p.T1775A NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1775 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 p.T1775A(1) 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) TGGGCGCTGGTGTCCTGCTCC 0.607000 13 210 0 0 0.119110 0 0 NRXN3 9369 broad.mit.edu 37 14 80327906 80327906 + Missense_Mutation SNP G G C TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr14:80327906G>C ENST00000557594.1 + 6 2466 c.1513G>C c.(1513-1515)Gat>Cat p.D505H NRXN3_ENST00000428277.2_Intron|NRXN3_ENST00000335750.5_Intron|NRXN3_ENST00000556003.1_Intron|NRXN3_ENST00000554719.1_Intron|NRXN3_ENST00000281127.7_Intron NM_001272020.1 NP_001258949.1 Q9HDB5 NRX3B_HUMAN neurexin 3 505 angiogenesis|cell adhesion integral to membrane NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1) 104 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) ACCCCAGCCTGATATAGTCTT 0.522000 4 19 0 0 0.150653 0 0 NLGN1 22871 broad.mit.edu 37 3 173322753 173322753 + Missense_Mutation SNP T T C TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr3:173322753T>C ENST00000457714.1 + 3 794 c.365T>C c.(364-366)aTt>aCt p.I122T NLGN1_ENST00000401917.3_Missense_Mutation_p.I122T|NLGN1_ENST00000361589.4_Missense_Mutation_p.I122T|NLGN1_ENST00000545397.1_Missense_Mutation_p.I122T NM_014932.2 NP_055747.1 Q8N2Q7 NLGN1_HUMAN neuroligin 1 122 calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane cell adhesion molecule binding|neurexin binding|receptor activity p.I122T(1) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 Ovarian(172;0.0025) LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13) CAGAATATCATTGATGGCAGA 0.463000 74 41 0 0 0.139131 0 0 NOS2 4843 broad.mit.edu 37 17 26098034 26098034 + Missense_Mutation SNP T T C TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr17:26098034T>C ENST00000313735.6 - 15 1947 c.1714A>G c.(1714-1716)Atg>Gtg p.M572V NM_000625.4 NP_000616.3 P35228 NOS2_HUMAN nitric oxide synthase 2, inducible 572 Flavodoxin-like. arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process cytosol|nucleus arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding p.M572V(1) autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 56 Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155) TACTTATCCATGCAGACAACC 0.617000 28 11 0 0 0.163468 0 0 GRIA4 2893 broad.mit.edu 37 11 105842684 105842684 + Missense_Mutation SNP G G A TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr11:105842684G>A ENST00000282499.5 + 15 2784 c.2338G>A c.(2338-2340)Gtc>Atc p.V780I GRIA4_ENST00000525187.1_Intron|GRIA4_ENST00000530497.1_Missense_Mutation_p.V780I|GRIA4_ENST00000533094.1_Intron|GRIA4_ENST00000393127.2_Intron NM_000829.3 NP_000820 P48058 GRIA4_HUMAN glutamate receptor, ionotropic, AMPA 4 780 glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity p.V780I(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6) 82 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) TGAGGCAGGCGTCTTAGACAA 0.418000 10 19 0 0 0.093190 0 0 BRINP3 339479 broad.mit.edu 37 1 190250704 190250704 + Missense_Mutation SNP G G T TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr1:190250704G>T ENST00000367462.3 - 3 644 c.413C>A c.(412-414)tCt>tAt p.S138Y BRINP3_ENST00000534846.1_Intron|RP11-547I7.1_ENST00000452178.1_RNA NM_199051.1 NP_950252.1 bone morphogenetic protein/retinoic acid inducible neural-specific 3 138 p.S138Y(1) CAGAGTAGCAGATAGCAAGAA 0.413000 18 82 2.94398e-08 3.10398e-08 0.189662 1 0 LRP1 4035 broad.mit.edu 37 12 57603647 57603647 + Silent SNP C C T TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr12:57603647C>T ENST00000243077.3 + 80 12901 c.12435C>T c.(12433-12435)ccC>ccT p.P4145P NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 4145 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity p.P4145P(1) NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) ACAAGCAGCCCGAAGGTGGGG 0.632000 11 40 0 0 0.093190 0 0 SAMSN1 64092 broad.mit.edu 37 21 15870854 15870854 + Missense_Mutation SNP T T C TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr21:15870854T>C ENST00000285670.2 - 8 1206 c.1032A>G c.(1030-1032)atA>atG p.I344M SAMSN1_ENST00000400564.1_Missense_Mutation_p.I108M|SAMSN1_ENST00000400566.1_Missense_Mutation_p.I276M|SAMSN1_ENST00000463807.1_5'UTR NM_001256370.1 NP_001243299.1 Q9NSI8 SAMN1_HUMAN SAM domain, SH3 domain and nuclear localization signals 1 276 negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation cytoplasm|nucleus|ruffle phosphotyrosine binding p.I344M(1)|p.I276M(1) breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 24 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164) GACTCTCTTTTATATCTTTTA 0.323000 24 67 0 0 0.099896 0 0 ZNF273 10793 broad.mit.edu 37 7 64389174 64389174 + Missense_Mutation SNP G G A TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr7:64389174G>A ENST00000476120.1 + 4 1539 c.1468G>A c.(1468-1470)Gaa>Aaa p.E490K ZNF273_ENST00000319636.5_Missense_Mutation_p.E425K|ZNF273_ENST00000527278.1_3'UTR NM_021148.2 NP_066971.2 Q14593 ZN273_HUMAN zinc finger protein 273 490 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E490K(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Lung NSC(55;0.0295)|all_lung(88;0.0691) CAAATGCAATGAATGTGGTAA 0.393000 25 54 0 0 0.076483 0 0 VPS11 55823 broad.mit.edu 37 11 118940031 118940031 + Missense_Mutation SNP G G C TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr11:118940031G>C ENST00000300793.6 + 3 352 c.310G>C c.(310-312)Gat>Cat p.D104H VPS11_ENST00000527798.1_3'UTR NM_021729.4 NP_068375.3 Q9H270 VPS11_HUMAN vacuolar protein sorting 11 homolog (S. cerevisiae) 105 protein transport endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane nucleotide binding|protein binding|zinc ion binding p.D104H(1) autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2) 29 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.88e-05) TGTTGGAGAAGATGAAGAGGG 0.478000 15 41 0 0 0.146539 0 0 KIAA0754 643314 broad.mit.edu 37 1 39878175 39878175 + Silent SNP G G A TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr1:39878175G>A ENST00000530275.1 + 1 2025 c.1830G>A c.(1828-1830)caG>caA p.Q610Q MACF1_ENST00000372915.3_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron NM_015038.1 NP_055853.1 O94854 K0754_HUMAN KIAA0754 610 central_nervous_system(1)|large_intestine(6)|skin(1) 8 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) TCCCAGAGCAGGTCTTCCAGG 0.483000 37 30 0 0 0.193644 0 0 CHD7 55636 broad.mit.edu 37 8 61654942 61654942 + Missense_Mutation SNP C C G TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr8:61654942C>G ENST00000423902.2 + 2 1430 c.951C>G c.(949-951)aaC>aaG p.N317K CHD7_ENST00000524602.1_Missense_Mutation_p.N317K|CHD7_ENST00000525508.1_Missense_Mutation_p.N317K NM_017780.3 NP_060250.2 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 317 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity p.N317K(2) NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) CTTACAGTAACCTAAATCAGG 0.418000 28 124 0 0 0.116897 0 0 DNAH5 1767 broad.mit.edu 37 5 13776655 13776655 + Missense_Mutation SNP G G A TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr5:13776655G>A ENST00000265104.4 - 55 9370 c.9266C>T c.(9265-9267)tCg>tTg p.S3089L NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3089 AAA 4 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.S3089L(1) 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) CCCCACTGGCGAGAAGCAGAG 0.478000 Kartagener syndrome 23 67 0 0 0.076483 0 0 AFF2 2334 broad.mit.edu 37 X 148037678 148037678 + Silent SNP C C T TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chrX:148037678C>T ENST00000370460.2 + 11 2582 c.2103C>T c.(2101-2103)ggC>ggT p.G701G AFF2_ENST00000370457.5_Silent_p.G668G|AFF2_ENST00000286437.5_Silent_p.G342G|AFF2_ENST00000342251.3_Silent_p.G668G NM_001169123.1|NM_002025.3 NP_001162594.1|NP_002016.2 P51816 AFF2_HUMAN AF4/FMR2 family, member 2 701 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding p.G701G(2)|p.G342G(1) breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) GAGGGCCTGGCAAGATTGTGC 0.502000 39 165 0 0 0.080422 0 0 TP53BP1 7158 broad.mit.edu 37 15 43724559 43724559 + Missense_Mutation SNP C C T TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr15:43724559C>T ENST00000263801.3 - 17 3745 c.3493G>A c.(3493-3495)Gaa>Aaa p.E1165K TP53BP1_ENST00000450115.2_Missense_Mutation_p.E1170K|TP53BP1_ENST00000382039.3_Missense_Mutation_p.E1170K|TP53BP1_ENST00000382044.4_Missense_Mutation_p.E1170K NM_005657.2 NP_005648.1 Q12888 TP53B_HUMAN tumor protein p53 binding protein 1 1165 double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity p.E1165K(1) breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3) 72 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) GAAACAGTTTCTGGGACCCTC 0.458000 Other conserved DNA damage response genes 28 40 0 0 0.108266 0 0 PPOX 5498 broad.mit.edu 37 1 161140556 161140556 + Silent SNP C C T TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr1:161140556C>T ENST00000367999.4 + 11 1511 c.1245C>T c.(1243-1245)caC>caT p.H415H PPOX_ENST00000432542.2_Silent_p.H160H|PPOX_ENST00000535223.1_Silent_p.H78H|PPOX_ENST00000495483.1_3'UTR|PPOX_ENST00000544598.1_Silent_p.H123H|PPOX_ENST00000352210.5_Silent_p.H415H NM_001122764.1 NP_001116236.1 P50336 PPOX_HUMAN protoporphyrinogen oxidase 415 heme biosynthetic process intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity p.H415H(1) breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3) 15 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) TCCATCTACACAAGGTAAGTT 0.507000 40 54 0 0 0.139131 0 0 OR5AC2 81050 broad.mit.edu 37 3 97806804 97806804 + Missense_Mutation SNP G G A TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr3:97806804G>A ENST00000358642.2 + 1 788 c.788G>A c.(787-789)cGt>cAt p.R263H NM_054106.1 NP_473447.1 Q9NZP5 O5AC2_HUMAN olfactory receptor, family 5, subfamily AC, member 2 263 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R263H(1) endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 28 ATGTATGTGCGTCCTGCATCT 0.428000 12 46 0 0 0.093190 0 0 KATNA1 11104 broad.mit.edu 37 6 149922846 149922846 + Missense_Mutation SNP G G C TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr6:149922846G>C ENST00000367411.2 - 7 1030 c.772C>G c.(772-774)Ctt>Gtt p.L258V KATNA1_ENST00000335647.5_Missense_Mutation_p.L258V|KATNA1_ENST00000335643.8_Missense_Mutation_p.L182V|KATNA1_ENST00000494504.1_5'UTR NM_007044.3 NP_008975.1 O75449 KTNA1_HUMAN katanin p60 (ATPase containing) subunit A 1 258 cell division|interphase of mitotic cell cycle|mitosis microtubule|microtubule organizing center|spindle pole ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity p.L258V(1) endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1) 12 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173) GCTTTAGCAAGGAGCGTCTTC 0.443000 27 49 0 0 0.125774 0 0 ASPSCR1 79058 broad.mit.edu 37 17 79973232 79973232 + Splice_Site SNP G G A TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr17:79973232G>A ENST00000306729.7 + 13 1732 c.1635G>A c.(1633-1635)cgG>cgA p.R545R ASPSCR1_ENST00000306739.4_Intron|ASPSCR1_ENST00000580534.1_Intron|ASPSCR1_ENST00000582404.1_3'UTR NM_001251888.1 NP_001238817.1 Q9BZE9 ASPC1_HUMAN alveolar soft part sarcoma chromosome region, candidate 1 451 protein binding p.R545R(1) ASPSCR1/TFE3(167) breast(2)|large_intestine(2) 4 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191) GGACAGGCCGGGTAGGCTGCC 0.682000 T TFE3 alveolar soft part sarcoma 14 34 0 0 0.132662 0 0 FRMPD3 84443 broad.mit.edu 37 X 106846053 106846053 + Missense_Mutation SNP G G T TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chrX:106846053G>T ENST00000276185.4 + 16 4883 c.4883G>T c.(4882-4884)cGg>cTg p.R1628L Q5JV73 FRPD3_HUMAN FERM and PDZ domain containing 3 1628 cytoskeleton p.R1677L(1)|p.R1628L(1) breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1) 28 CTGGCTGCCCGGCTGGACACC 0.637000 14 24 3.41278e-10 3.67822e-10 0.160694 1 0 KCNV1 27012 broad.mit.edu 37 8 110980444 110980444 + Missense_Mutation SNP G G T TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr8:110980444G>T ENST00000524391.1 - 4 2408 c.1376C>A c.(1375-1377)gCc>gAc p.A459D KCNV1_ENST00000297404.1_Missense_Mutation_p.A459D Q6PIU1 KCNV1_HUMAN potassium channel, subfamily V, member 1 459 voltage-gated potassium channel complex ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity p.A459D(1) breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;5.35e-13) TGAGTCAGTGGCTATATTCTT 0.443000 16 70 0.000422831 0.000433253 0.146539 1 0 ISM2 145501 broad.mit.edu 37 14 77948949 77948949 + Missense_Mutation SNP G G A TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr14:77948949G>A ENST00000393684.3 - 5 816 c.425C>T c.(424-426)cCc>cTc p.P142L ISM2_ENST00000412904.1_Missense_Mutation_p.P149L|ISM2_ENST00000342219.4_Missense_Mutation_p.P230L|ISM2_ENST00000429906.1_Missense_Mutation_p.P149L|ISM2_ENST00000493585.1_Intron Q6H9L7 ISM2_HUMAN isthmin 2 230 Poly-Glu. extracellular region p.P230L(1) endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1) 21 GGGATTGCTGGGCTCAGCCAA 0.637000 118 145 0 0 0.139131 0 0 MST1L 11223 broad.mit.edu 37 1 17085065 17085065 + RNA SNP C C A TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr1:17085065C>A ENST00000455405.2 - 0 123 p.E439D(1)|p.E470D(1) TGCCACACTTCTCAAACTGCA 0.607000 8 104 2.80697e-09 3.00305e-09 0.080935 1 0 FBXO21 23014 broad.mit.edu 37 12 117610323 117610323 + Silent SNP G G C TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr12:117610323G>C ENST00000427718.2 - 7 1040 c.966C>G c.(964-966)gtC>gtG p.V322V FBXO21_ENST00000330622.5_Silent_p.V322V|FBXO21_ENST00000549689.1_5'UTR NM_015002.2|NM_033624.2 NP_055817.1|NP_296373.1 O94952 FBX21_HUMAN F-box protein 21 322 ubiquitin-dependent protein catabolic process ubiquitin ligase complex ubiquitin-protein ligase activity p.V322V(1) breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 29 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0291) TTGGGAAGTTGACAGGCTCCA 0.493000 67 48 0 0 0.139131 0 0 NLRP8 126205 broad.mit.edu 37 19 56466880 56466880 + Missense_Mutation SNP G G A TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr19:56466880G>A ENST00000291971.3 + 3 1527 c.1456G>A c.(1456-1458)Gcc>Acc p.A486T NLRP8_ENST00000590542.1_Missense_Mutation_p.A486T NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 486 NACHT. cytoplasm ATP binding p.A486T(1) breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) GGGAGTCACCGCCTTCCTTGG 0.488000 7 143 0 0 0.038147 0 0 ZNF292 23036 broad.mit.edu 37 6 87971008 87971008 + Missense_Mutation SNP C C T TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr6:87971008C>T ENST00000369577.3 + 8 7704 c.7661C>T c.(7660-7662)tCa>tTa p.S2554L ZNF292_ENST00000339907.4_Missense_Mutation_p.S2549L NM_015021.1 NP_055836.1 O60281 ZN292_HUMAN zinc finger protein 292 2554 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.S2409L(1)|p.S2554L(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 89 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) GAACCAGCATCAGCAGCTGAG 0.373000 14 19 0 0 0.132662 0 0 GRM5 2915 broad.mit.edu 37 11 88780634 88780634 + Missense_Mutation SNP G G T TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr11:88780634G>T ENST00000418177.2 - 2 774 c.407C>A c.(406-408)tCc>tAc p.S136Y GRM5_ENST00000455756.2_Missense_Mutation_p.S136Y|GRM5_ENST00000305447.4_Missense_Mutation_p.S136Y|GRM5_ENST00000305432.5_Missense_Mutation_p.S136Y|GRM5_ENST00000393297.1_Missense_Mutation_p.S136Y|GRM5_ENST00000393294.3_Missense_Mutation_p.S136Y P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 136 activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity p.S136Y(2) NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) GGAGCGGAAGGAAGAGGAGGA 0.512000 14 25 1.5842e-08 1.67637e-08 0.105934 1 0 EPHA5 2044 broad.mit.edu 37 4 66467438 66467438 + Silent SNP G G A TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr4:66467438G>A ENST00000273854.3 - 3 1431 c.831C>T c.(829-831)agC>agT p.S277S EPHA5_ENST00000511294.1_Silent_p.S277S|EPHA5_ENST00000354839.4_Silent_p.S277S|EPHA5_ENST00000432638.2_Silent_p.S277S NM_001281765.1|NM_004439.5 NP_001268694.1|NP_004430.4 P54756 EPHA5_HUMAN EPH receptor A5 277 Cys-rich. cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity p.S277S(1) autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 142 CCCCTTCGGCGCTGCAGTGCA 0.522000 TSP Lung(17;0.13) 15 44 0 0 0.204396 0 0 FOXRED2 80020 broad.mit.edu 37 22 36889754 36889754 + Missense_Mutation SNP G G A TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr22:36889754G>A ENST00000397224.4 - 8 1814 c.1721C>T c.(1720-1722)cCg>cTg p.P574L FOXRED2_ENST00000216187.6_Missense_Mutation_p.P574L|FOXRED2_ENST00000366463.3_Missense_Mutation_p.P126L|FOXRED2_ENST00000397223.4_Missense_Mutation_p.P574L NM_001102371.1 NP_001095841.1 Q8IWF2 FXRD2_HUMAN FAD-dependent oxidoreductase domain containing 2 574 ER-associated protein catabolic process endoplasmic reticulum lumen flavin adenine dinucleotide binding|oxidoreductase activity|protein binding p.P574L(1) breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 GTGCCCGATCGGGGCAGTCCA 0.557000 9 37 0 0 0.160694 0 0 RGS22 26166 broad.mit.edu 37 8 101078406 101078406 + Nonsense_Mutation SNP G G T TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr8:101078406G>T ENST00000360863.6 - 7 907 c.713C>A c.(712-714)tCa>tAa p.S238* RGS22_ENST00000523287.1_Nonsense_Mutation_p.S57*|RGS22_ENST00000523437.1_Nonsense_Mutation_p.S226* NM_015668.3 NP_056483.3 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 238 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity p.S238*(2) RGS22/SYCP1(2) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) AGAAACAGATGAAATAGCTGG 0.343000 13 78 4.3838e-07 4.55602e-07 0.105934 1 0 EP400 57634 broad.mit.edu 37 12 132490706 132490706 + Silent SNP C C G TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr12:132490706C>G ENST00000333577.4 + 15 3202 c.3093C>G c.(3091-3093)ctC>ctG p.L1031L EP400_ENST00000332482.4_Silent_p.L958L|EP400_ENST00000389561.2_Silent_p.L995L|EP400_ENST00000330386.6_Silent_p.L995L|EP400_ENST00000389562.2_Silent_p.L994L Q96L91 EP400_HUMAN E1A binding protein p400 1031 Interactions with RUVBL1 and RUVBL2. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.L994L(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) ACTTGGTTCTCATCGACTCGC 0.507000 29 40 0 0 0.125774 0 0 TYW1 55253 broad.mit.edu 37 7 66479465 66479465 + Nonsense_Mutation SNP C C T TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr7:66479465C>T ENST00000359626.5 + 5 651 c.487C>T c.(487-489)Cga>Tga p.R163* NM_018264.2 NP_060734.2 Q9NV66 TYW1_HUMAN tRNA-yW synthesizing protein 1 homolog (S. cerevisiae) 163 Flavodoxin-like. tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity p.R163*(1) breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2) 46 Lung NSC(55;0.0846)|all_lung(88;0.183) CATTGATTTTCGATTTGGCAA 0.438000 53 117 0 0 0.139131 0 0 LRFN5 145581 broad.mit.edu 37 14 42361125 42361125 + Silent SNP C C T TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr14:42361125C>T ENST00000298119.4 + 4 3247 c.2058C>T c.(2056-2058)gtC>gtT p.V686V LRFN5_ENST00000554120.1_Intron|LRFN5_ENST00000554171.1_Intron NM_152447.3 NP_689660.2 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III domain containing 5 686 integral to membrane p.V686V(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2) 120 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) CCGATTCTGTCACAGAGGGGC 0.478000 HNSCC(30;0.082) 7 40 0 0 0.058154 0 0 SIM1 6492 broad.mit.edu 37 6 100841696 100841696 + Missense_Mutation SNP C C T TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr6:100841696C>T ENST00000369208.3 - 11 2019 c.1237G>A c.(1237-1239)Gac>Aac p.D413N SIM1_ENST00000262901.4_Missense_Mutation_p.D413N P81133 SIM1_HUMAN single-minded family bHLH transcription factor 1 413 Single-minded C-terminal. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity p.D413N(1) breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 79 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) GAGGCCGTGTCGGTCAAGGGA 0.572000 37 21 0 0 0.203993 0 0 PREX1 57580 broad.mit.edu 37 20 47242457 47242457 + Missense_Mutation SNP C C T TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr20:47242457C>T ENST00000371941.3 - 40 4968 c.4946G>A c.(4945-4947)cGc>cAc p.R1649H PREX1_ENST00000396220.1_3'UTR NM_020820.3 NP_065871 Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 1649 actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity p.R1649H(1) breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 110 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) CTGGCAGAGGCGGTAGAGGCT 0.587000 5 20 0 0 0.184627 0 0 OR1S1 219959 broad.mit.edu 37 11 57982648 57982648 + Silent SNP T T C TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr11:57982648T>C ENST00000309433.6 + 1 432 c.432T>C c.(430-432)aaT>aaC p.N144N NM_001004458.1 NP_001004458.1 Q8NH92 OR1S1_HUMAN olfactory receptor, family 1, subfamily S, member 1 144 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.N144N(1) breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3) 48 Breast(21;0.0589) ACCCTCTGAATTATACAATTC 0.453000 4 130 0 0 0.150653 0 0 SLC4A5 57835 broad.mit.edu 37 2 74481774 74481774 + Missense_Mutation SNP C C T TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr2:74481774C>T ENST00000394019.2 - 14 1482 c.1085G>A c.(1084-1086)cGt>cAt p.R362H RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377632.1_Missense_Mutation_p.R362H|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000423644.1_Missense_Mutation_p.R362H|SLC4A5_ENST00000346834.4_Missense_Mutation_p.R362H|SLC4A5_ENST00000358683.4_Missense_Mutation_p.R298H|SLC4A5_ENST00000357822.5_Missense_Mutation_p.R362H|SLC4A5_ENST00000377634.4_Missense_Mutation_p.R362H|SLC4A5_ENST00000359484.4_Missense_Mutation_p.R298H NM_133478.2 NP_597812.1 Q9BY07 S4A5_HUMAN solute carrier family 4 (sodium bicarbonate cotransporter), member 5 362 apical plasma membrane|integral to membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity p.R362H(2) breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 TGCAATGGCACGGCCAATTTC 0.438000 71 322 0 0 0.139131 0 0 DCHS1 8642 broad.mit.edu 37 11 6661249 6661249 + Silent SNP C C A TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr11:6661249C>A ENST00000299441.3 - 2 2007 c.1596G>T c.(1594-1596)acG>acT p.T532T NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 532 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.T532T(2) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GTGAGGCAGCCGTAGTGATAA 0.582000 37 22 1.90571e-15 2.07701e-15 0.203993 1 0 ADCY4 196883 broad.mit.edu 37 14 24792260 24792260 + Missense_Mutation SNP G G T TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr14:24792260G>T ENST00000310677.4 - 19 2305 c.2192C>A c.(2191-2193)tCc>tAc p.S731Y ADCY4_ENST00000418030.2_Missense_Mutation_p.S731Y|ADCY4_ENST00000554068.2_Missense_Mutation_p.S731Y NM_001198568.1|NM_001198592.1|NM_139247.3 NP_001185497.1|NP_001185521.1|NP_640340.2 Q8NFM4 ADCY4_HUMAN adenylate cyclase 4 731 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 p.S731Y(1) 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) GAGGGAGCAGGAGAGGAAGCC 0.637000 15 42 1.5739e-10 1.70262e-10 0.146539 1 0 MIR503HG 84848 broad.mit.edu 37 X 133680727 133680727 + RNA SNP T T A TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chrX:133680727T>A ENST00000362227.1 - 0 14 NR_029946.1 p.A5A(1) CATGAATTGCTGCTGTATCCC 0.562000 11 18 0 0 0.080935 0 0 OPN1MW2 728458 broad.mit.edu 37 X 153496064 153496064 + Silent SNP G G A TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chrX:153496064G>A ENST00000369929.4 + 5 852 c.792G>A c.(790-792)aaG>aaA p.K264K OPN1MW2_ENST00000488220.1_3'UTR NM_001048181.2 NP_001041646.1 opsin 1 (cone pigments), medium-wave-sensitive 2 p.K264K(1) haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)|stomach(2)|urinary_tract(1) 6 all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) AGGCAGAGAAGGAAGTGACGC 0.582000 37 109 0 0 0.139131 0 0 SORCS3 22986 broad.mit.edu 37 10 106918677 106918677 + Missense_Mutation SNP C C G TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr10:106918677C>G ENST00000369701.3 + 11 1884 c.1657C>G c.(1657-1659)Caa>Gaa p.Q553E NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 553 integral to membrane neuropeptide receptor activity p.Q553E(1) autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) TCTGCACCTGCAACTCTCTGA 0.463000 51 39 0 0 0.139131 0 0 NEK10 152110 broad.mit.edu 37 3 27161293 27161293 + Missense_Mutation SNP G G A rs147586444 TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr3:27161293G>A ENST00000429845.2 - 36 3681 c.3319C>T c.(3319-3321)Cgt>Tgt p.R1107C NEK10_ENST00000383770.3_Missense_Mutation_p.R362C|NEK10_ENST00000295720.6_Missense_Mutation_p.R419C|NEK10_ENST00000383771.4_Missense_Mutation_p.R409C Q6ZWH5 NEK10_HUMAN NIMA-related kinase 10 1107 ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.R1107C(1)|p.R1060C(1) NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 CCGGATGAACGATGTAATAAA 0.393000 30 53 0 0 0.173368 0 0 EID3 493861 broad.mit.edu 37 12 104698237 104698237 + Silent SNP C C T TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr12:104698237C>T ENST00000527879.1 + 1 721 c.525C>T c.(523-525)ttC>ttT p.F175F TXNRD1_ENST00000388854.3_Intron|TXNRD1_ENST00000542918.1_Intron|TXNRD1_ENST00000540716.1_Intron|TXNRD1_ENST00000429002.2_Intron|TXNRD1_ENST00000503506.2_Intron|TXNRD1_ENST00000526691.1_Intron|TXNRD1_ENST00000397736.2_Intron|TXNRD1_ENST00000526390.1_Intron|TXNRD1_ENST00000529546.1_Intron|TXNRD1_ENST00000525566.1_Intron|TXNRD1_ENST00000354940.6_Intron|TXNRD1_ENST00000524698.1_Intron|TXNRD1_ENST00000378070.4_Intron NM_001008394.2 NP_001008395.1 Q8N140 EID3_HUMAN EP300 interacting inhibitor of differentiation 3 175 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus p.F175F(1) large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 TTGGTTCATTCAAGCTAGAAC 0.423000 40 126 0 0 0.111260 0 0 PROS1 5627 broad.mit.edu 37 3 93605209 93605209 + Missense_Mutation SNP G G A TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr3:93605209G>A ENST00000394236.3 - 11 1610 c.1294C>T c.(1294-1296)Cgg>Tgg p.R432W PROS1_ENST00000407433.1_Missense_Mutation_p.R301W NM_000313.3 NP_000304.2 P07225 PROS_HUMAN protein S (alpha) 432 Laminin G-like 1. leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen calcium ion binding|endopeptidase inhibitor activity p.R432W(1)|p.R432L(1) endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1) 46 Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170) TCCACTTTCCGAGGGAATCCT 0.378000 98 62 0 0 0.139131 0 0 TENM3 55714 broad.mit.edu 37 4 183721343 183721343 + Missense_Mutation SNP G G A TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr4:183721343G>A ENST00000511685.1 + 28 8062 c.7939G>A c.(7939-7941)Gcg>Acg p.A2647T TENM3_ENST00000406950.2_Missense_Mutation_p.A2647T teneurin transmembrane protein 3 p.A2647T(1) CGAGGAGGGCGCGCGCCTCTG 0.741000 9 2 0 0 0.093190 0 0 ZNF608 57507 broad.mit.edu 37 5 124080631 124080631 + Missense_Mutation SNP C C T TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr5:124080631C>T ENST00000306315.5 - 1 487 c.52G>A c.(52-54)Gat>Aat p.D18N NM_020747.2 NP_065798.2 Q9ULD9 ZN608_HUMAN zinc finger protein 608 18 intracellular zinc ion binding p.D18N(1) breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1) 46 all_cancers(142;0.186)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783) TCATAAGTATCAACTGTATTT 0.383000 30 69 0 0 0.163468 0 0 MXRA5 25878 broad.mit.edu 37 X 3239495 3239495 + Missense_Mutation SNP T T C TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chrX:3239495T>C ENST00000217939.6 - 5 4385 c.4231A>G c.(4231-4233)Aaa>Gaa p.K1411E NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 1411 extracellular region p.K1411E(2) NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) TCAAGCTCTTTAAGAAGGGGA 0.502000 30 29 0 0 0.134883 0 0 CFH 3075 broad.mit.edu 37 1 196654203 196654203 + Missense_Mutation SNP G G A TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr1:196654203G>A ENST00000367429.4 + 7 1040 c.800G>A c.(799-801)tGt>tAt p.C267Y CFH_ENST00000359637.2_Missense_Mutation_p.C203Y|CFH_ENST00000439155.2_Missense_Mutation_p.C267Y NM_000186.3 NP_000177.2 P08603 CFAH_HUMAN complement factor H 267 Sushi 5. complement activation, alternative pathway extracellular space p.C267Y(1) NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 GAAAAATCATGTGATAATCCT 0.289000 41 41 0 0 0.098360 0 0 C4orf50 389197 broad.mit.edu 37 4 5966859 5966859 + Silent SNP G G A TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr4:5966859G>A ENST00000531445.1 - 6 1939 c.1893C>T c.(1891-1893)ctC>ctT p.L631L C4orf50_ENST00000324058.5_Silent_p.L157L Q6ZRC1 CD050_HUMAN chromosome 4 open reading frame 50 157 p.L157L(1) breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1) 15 CAGGATTCAAGAGGTATGTCT 0.502000 16 35 0 0 0.160694 0 0 UBE2J2 118424 broad.mit.edu 37 1 1190692 1190692 + Missense_Mutation SNP C C T TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr1:1190692C>T ENST00000347370.2 - 7 988 c.515G>A c.(514-516)cGg>cAg p.R172Q UBE2J2_ENST00000348298.7_Missense_Mutation_p.R172Q|UBE2J2_ENST00000400929.2_Missense_Mutation_p.R172Q|UBE2J2_ENST00000349431.6_Missense_Mutation_p.R224Q|UBE2J2_ENST00000339385.6_Missense_Mutation_p.R189Q|UBE2J2_ENST00000360466.2_Missense_Mutation_p.R224Q|UBE2J2_ENST00000400930.4_Missense_Mutation_p.R240Q NM_194458.1 NP_919440.1 Q8N2K1 UB2J2_HUMAN ubiquitin-conjugating enzyme E2, J2 224 response to unfolded protein endoplasmic reticulum membrane|integral to membrane ATP binding|ubiquitin-protein ligase activity p.R240Q(1) cervix(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 13 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205) TCCGTGGTGCCGGTTGGCCTG 0.637000 31 105 0 0 0.144211 0 0 GABRA6 2559 broad.mit.edu 37 5 161119111 161119111 + Nonsense_Mutation SNP C C T TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr5:161119111C>T ENST00000523217.1 + 8 1203 c.961C>T c.(961-963)Cag>Tag p.Q321* GABRA6_ENST00000274545.5_Nonsense_Mutation_p.Q331* NM_000811.2 NP_000802.2 Q16445 GBRA6_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 6 331 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity p.Q331*(1) breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2) 57 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TACCAATCTTCAGACACAGAA 0.453000 TCGA Ovarian(5;0.080) 62 45 0 0 0.139131 0 0 ATF6B 1388 broad.mit.edu 37 6 32095973 32095973 + Silent SNP C C G TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr6:32095973C>G ENST00000375201.4 - 1 57 c.12G>C c.(10-12)ctG>ctC p.L4L ATF6B_ENST00000375203.3_Silent_p.L4L|ATF6B_ENST00000468502.1_5'UTR Q99941 ATF6B_HUMAN activating transcription factor 6 beta 4 Transcription activation. response to unfolded protein|signal transduction endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.L4L(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1) 22 TGAGCAGCATCAGCTCCGCCA 0.607000 51 30 0 0 0.139131 0 0 CNBD1 168975 broad.mit.edu 37 8 88249313 88249313 + Missense_Mutation SNP G G T TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr8:88249313G>T ENST00000518476.1 + 6 795 c.744G>T c.(742-744)gaG>gaT p.E248D CNBD1_ENST00000522427.1_3'UTR NM_173538.2 NP_775809.1 Q8NA66 CNBD1_HUMAN cyclic nucleotide binding domain containing 1 248 p.E248D(2) breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1) 32 CACTTGCTGAGATGTACCTAC 0.378000 37 30 4.14481e-20 4.55147e-20 0.086207 1 0 FUBP3 8939 broad.mit.edu 37 9 133455140 133455140 + Missense_Mutation SNP C C T TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr9:133455140C>T ENST00000319725.9 + 1 148 c.73C>T c.(73-75)Cgg>Tgg p.R25W FUBP3_ENST00000467100.1_3'UTR NM_003934.1 NP_003925.1 Q96I24 FUBP3_HUMAN far upstream element (FUSE) binding protein 3 25 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|RNA binding p.R25W(1) NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2) 21 OV - Ovarian serous cystadenocarcinoma(145;0.000279) TGCCCTGCACCGGGTCCGGCA 0.766000 2 1 0 0 0.115264 0 0 DPPA2 151871 broad.mit.edu 37 3 109031405 109031405 + Silent SNP C C T TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr3:109031405C>T ENST00000478945.1 - 3 414 c.168G>A c.(166-168)aaG>aaA p.K56K NM_138815.3 NP_620170.3 Q7Z7J5 DPPA2_HUMAN developmental pluripotency associated 2 56 nucleus nucleic acid binding p.K56K(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 GATTGTATTTCTTAGGCTTCT 0.418000 46 113 0 0 0.139131 0 0 FBXL7 23194 broad.mit.edu 37 5 15936774 15936774 + Silent SNP C C T TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr5:15936774C>T ENST00000504595.1 + 4 1436 c.955C>T c.(955-957)Ctg>Ttg p.L319L FBXL7_ENST00000510662.1_Silent_p.L272L|FBXL7_ENST00000329673.7_Silent_p.L307L NM_001278317.1|NM_012304.3 NP_001265246.1|NP_036436.1 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 319 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity p.L319L(1) cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 CCTGCGCTACCTGGTGATCTA 0.672000 17 16 0 0 0.189662 0 0 ZNF224 7767 broad.mit.edu 37 19 44611292 44611292 + Nonsense_Mutation SNP C C T TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr19:44611292C>T ENST00000336976.6 + 6 1233 c.979C>T c.(979-981)Cag>Tag p.Q327* AC084219.4_ENST00000592946.1_RNA NM_013398.2 NP_037530.2 Q9NZL3 ZN224_HUMAN zinc finger protein 224 327 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex DNA binding|protein binding|zinc ion binding p.Q327*(1) NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1) 19 Prostate(69;0.0435) GAGCTTTCGTCAGAGATCAGC 0.428000 33 125 0 0 0.173368 0 0 CTSA 5476 broad.mit.edu 37 20 44521121 44521121 + Missense_Mutation SNP G G C TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr20:44521121G>C ENST00000372484.3 + 5 778 c.496G>C c.(496-498)Gag>Cag p.E166Q CTSA_ENST00000191018.5_Missense_Mutation_p.E148Q|CTSA_ENST00000354880.5_Missense_Mutation_p.E149Q|CTSA_ENST00000372459.2_Missense_Mutation_p.E148Q NM_000308.2|NM_001127695.1 NP_000299.2|NP_001121167.1 P10619 PPGB_HUMAN cathepsin A 148 intracellular protein transport|proteolysis endoplasmic reticulum|lysosome|nucleus enzyme activator activity|protein binding|serine-type carboxypeptidase activity p.E166Q(1) breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1) 21 Myeloproliferative disorder(115;0.0122) TAATGACACTGAGGTGAGTCT 0.552000 52 48 0 0 0.139131 0 0 MUC16 94025 broad.mit.edu 37 19 9025599 9025599 + Silent SNP G G A TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr19:9025599G>A ENST00000397910.4 - 15 37058 c.36855C>T c.(36853-36855)acC>acT p.T12285T NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 12287 SEA 2. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.T12285T(1) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 ACCTGAGCAAGGTCAATCTGC 0.522000 14 48 0 0 0.132662 0 0 ITGAV 3685 broad.mit.edu 37 2 187455218 187455218 + Silent SNP C C T TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr2:187455218C>T ENST00000261023.3 + 1 427 c.153C>T c.(151-153)ttC>ttT p.F51F ITGAV_ENST00000374907.3_Silent_p.F51F NM_002210.3 NP_002201 P06756 ITAV_HUMAN integrin, alpha V 51 angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance integrin complex receptor activity|transforming growth factor beta binding p.F51F(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189) STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108) ACTTCGGCTTCGCCGTGGATT 0.637000 19 25 0 0 0.055883 0 0 FBXL20 84961 broad.mit.edu 37 17 37457256 37457256 + Missense_Mutation SNP C C G TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr17:37457256C>G ENST00000264658.6 - 4 492 c.232G>C c.(232-234)Gag>Cag p.E78Q FBXL20_ENST00000583610.1_Missense_Mutation_p.E78Q|FBXL20_ENST00000577399.1_Missense_Mutation_p.E80Q|FBXL20_ENST00000394294.3_Missense_Mutation_p.E78Q NM_032875.2 NP_116264.2 Q96IG2 FXL20_HUMAN F-box and leucine-rich repeat protein 20 78 cytoplasm p.E78Q(1) breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 22 LUAD - Lung adenocarcinoma(14;0.146) AATTATACCTCAATATCCCTC 0.393000 14 46 0 0 0.132662 0 0 MARCH5 54708 broad.mit.edu 37 10 94109544 94109544 + Missense_Mutation SNP G G A TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr10:94109544G>A ENST00000358935.2 + 5 1002 c.670G>A c.(670-672)Ggt>Agt p.G224S NM_017824.4 NP_060294.1 Q9NX47 MARH5_HUMAN membrane-associated ring finger (C3HC4) 5 224 cell aging|protein autoubiquitination|protein localization in mitochondrion|protein polyubiquitination|regulation of mitochondrial fission endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane GTPase binding|ubiquitin-protein ligase activity|zinc ion binding p.G224S(1) endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1) 9 TACAATAGTTGGTAAATTGAT 0.383000 53 122 0 0 0.139131 0 0 MCF2L 23263 broad.mit.edu 37 13 113750868 113750868 + Missense_Mutation SNP G G A TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr13:113750868G>A ENST00000375601.3 + 29 3532 c.3205G>A c.(3205-3207)Gtc>Atc p.V1069I MCF2L_ENST00000397030.1_3'UTR|MCF2L_ENST00000375608.3_Missense_Mutation_p.V1095I|MCF2L_ENST00000375604.2_Missense_Mutation_p.V1122I|MCF2L_ENST00000535094.2_Missense_Mutation_p.V1065I|MCF2L_ENST00000442652.2_Missense_Mutation_p.V1095I|MCF2L_ENST00000423482.2_Missense_Mutation_p.V1063I|MCF2L_ENST00000434480.2_Missense_Mutation_p.V1071I O15068 MCF2L_HUMAN MCF.2 cell line derived transforming sequence-like 1095 SH3. 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|plasma membrane Rho guanyl-nucleotide exchange factor activity p.V1069I(1)|p.V1122I(1) kidney(1)|large_intestine(5)|ovary(1)|stomach(1) 8 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188) TTGCAGGTACGTCAGGGACCC 0.736000 4 11 0 0 0.184627 0 0 MBTPS1 8720 broad.mit.edu 37 16 84118642 84118642 + Nonsense_Mutation SNP G G C TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr16:84118642G>C ENST00000343411.3 - 10 1727 c.1232C>G c.(1231-1233)tCa>tGa p.S411* MBTPS1_ENST00000569770.1_5'UTR NM_003791.2 NP_003782.1 Q14703 MBTP1_HUMAN membrane-bound transcription factor peptidase, site 1 411 Serine protease. cholesterol metabolic process|proteolysis endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane serine-type endopeptidase activity p.S411*(1) NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 ACTGGTCCCTGAGAGGGCCCG 0.602000 OREG0023982 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 34 95 0 0 0.183431 0 0 COL9A2 1298 broad.mit.edu 37 1 40775613 40775613 + Missense_Mutation SNP G G C rs140305893 TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr1:40775613G>C ENST00000372748.3 - 16 939 c.843C>G c.(841-843)gaC>gaG p.D281E NM_001852.3 NP_001843.1 Q14055 CO9A2_HUMAN collagen, type IX, alpha 2 281 Triple-helical region 3 (COL3). axon guidance|skeletal system development collagen type IX p.D281D(2)|p.D281E(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2) 22 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;2.08e-17) GACTCACCTCGTCACCCTTCT 0.612000 46 176 0 0 0.139131 0 0 BAGE2 85319 broad.mit.edu 37 21 11049513 11049513 + RNA SNP G G T TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr21:11049513G>T ENST00000470054.1 - 0 595 B melanoma antigen family, member 2 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) TGGAGTAACCGCTGTATCCAG 0.458000 7 122 5.16669e-11 5.6101e-11 0.080935 1 0 FAM47A 158724 broad.mit.edu 37 X 34149314 34149314 + Missense_Mutation SNP C C T TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chrX:34149314C>T ENST00000346193.3 - 1 1133 c.1082G>A c.(1081-1083)cGt>cAt p.R361H NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 361 p.R361H(1) NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 TAGGCGGAGACGGGACACTCC 0.647000 16 55 0 0 0.146539 0 0 ZNF248 57209 broad.mit.edu 37 10 38121959 38121959 + Silent SNP G G A TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr10:38121959G>A ENST00000395867.3 - 6 874 c.324C>T c.(322-324)aaC>aaT p.N108N ZNF248_ENST00000494133.1_5'UTR|ZNF248_ENST00000374648.3_Silent_p.N108N|ZNF248_ENST00000357328.4_Silent_p.N108N NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2 NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1 Q8NDW4 ZN248_HUMAN zinc finger protein 248 108 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.N108N(1) NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1) 20 TTACTGTTTTGTTGTTGTGGA 0.358000 30 106 0 0 0.134883 0 0 ARHGAP17 55114 broad.mit.edu 37 16 24990327 24990327 + Splice_Site SNP C C T TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr16:24990327C>T ENST00000289968.6 - 2 123 c.e2-1 ARHGAP17_ENST00000441763.2_Splice_Site|ARHGAP17_ENST00000303665.5_Splice_Site|ARHGAP17_ENST00000575975.1_Splice_Site NM_001006634.1 NP_001006635.1 Q68EM7 RHG17_HUMAN Rho GTPase activating protein 17 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|tight junction GTPase activator activity|SH3 domain binding p.?(2) breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2) 30 GBM - Glioblastoma multiforme(48;0.0407) TTTCTCAGCTCTGTGGGAAAA 0.308000 15 19 0 0 0.132662 0 0 CDK8 1024 broad.mit.edu 37 13 26927985 26927985 + Missense_Mutation SNP C C A TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr13:26927985C>A ENST00000381527.3 + 4 927 c.424C>A c.(424-426)Ctg>Atg p.L142M CDK8_ENST00000536792.1_Missense_Mutation_p.L142M NM_001260.1 NP_001251.1 P49336 CDK8_HUMAN cyclin-dependent kinase 8 142 Protein kinase. regulation of transcription, DNA-dependent|transcription, DNA-dependent mediator complex ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity p.L142M(1) breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 25 Colorectal(5;0.000442) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188) TATTCACTACCTGCATGCTAA 0.403000 71 33 1.59627e-33 1.78659e-33 0.139131 1 0 XPR1 9213 broad.mit.edu 37 1 180794388 180794388 + Missense_Mutation SNP C C T TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr1:180794388C>T ENST00000367590.4 + 9 1240 c.1042C>T c.(1042-1044)Cca>Tca p.P348S XPR1_ENST00000367589.3_Missense_Mutation_p.P348S NM_004736.3 NP_004727.2 Q9UBH6 XPR1_HUMAN xenotropic and polytropic retrovirus receptor 1 348 integral to plasma membrane G-protein coupled receptor activity p.P348S(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 35 ATATGTGTATCCACTTGCCCT 0.438000 222 172 0 0 0.139131 0 0 MYOF 26509 broad.mit.edu 37 10 95157003 95157003 + Nonsense_Mutation SNP C C T TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr10:95157003C>T ENST00000371489.1 - 15 1457 c.1335G>A c.(1333-1335)tgG>tgA p.W445* MYOF_ENST00000359263.4_Splice_Site|MYOF_ENST00000358334.5_Splice_Site|MYOF_ENST00000371502.4_Splice_Site|MYOF_ENST00000371501.4_Splice_Site Q9NZM1 MYOF_HUMAN myoferlin 445 C2 3. blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding p.?(1) NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 TTTCAACTCACCAGTCATATA 0.269000 9 38 0 0 0.047766 0 0 TXNRD2 10587 broad.mit.edu 37 22 19868214 19868214 + Silent SNP C C A TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr22:19868214C>A ENST00000535882.1 - 13 1109 c.1110G>T c.(1108-1110)gcG>gcT p.A370A TXNRD2_ENST00000400518.1_Silent_p.A341A|TXNRD2_ENST00000400519.1_Silent_p.A370A|TXNRD2_ENST00000400521.1_Silent_p.A371A|TXNRD2_ENST00000542719.1_Silent_p.A341A Q9NNW7 TRXR2_HUMAN thioredoxin reductase 2 371 I -> T (in dbSNP:rs1139793). cell redox homeostasis|response to oxygen radical mitochondrion flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity p.A371A(1) breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2) 30 Colorectal(54;0.0993) CGGCCATGATCGCTATGGGTG 0.622000 12 26 0.000566183 0.000578103 0.160694 1 0 FAM71C 196472 broad.mit.edu 37 12 100042274 100042274 + Missense_Mutation SNP G G C TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr12:100042274G>C ENST00000324341.1 + 1 744 c.322G>C c.(322-324)Gaa>Caa p.E108Q ANKS1B_ENST00000547776.2_Intron|ANKS1B_ENST00000329257.7_Intron|ANKS1B_ENST00000547010.1_Intron NM_153364.3 NP_699195.1 Q8NEG0 FA71C_HUMAN family with sequence similarity 71, member C 108 p.E108Q(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19) CCAGAAAAGAGAAAGTCCGCC 0.522000 24 64 0 0 0.116897 0 0 BZRAP1 9256 broad.mit.edu 37 17 56395743 56395743 + Silent SNP G G A rs138887181 TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr17:56395743G>A ENST00000355701.3 - 14 2640 c.1770C>T c.(1768-1770)ctC>ctT p.L590L BZRAP1_ENST00000268893.6_Silent_p.L530L|BZRAP1_ENST00000343736.4_Silent_p.L590L NM_001261835.1|NM_004758.3 NP_001248764.1|NP_004749.2 O95153 RIMB1_HUMAN benzodiazapine receptor (peripheral) associated protein 1 590 mitochondrion benzodiazepine receptor binding p.L590L(2) cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) GGACCCCAGTGAGAGTGGCAG 0.627000 24 75 0 0 0.125774 0 0 KIAA1210 57481 broad.mit.edu 37 X 118223343 118223343 + Missense_Mutation SNP A A G TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chrX:118223343A>G ENST00000402510.2 - 11 1849 c.1850T>C c.(1849-1851)aTg>aCg p.M617T NM_020721.1 NP_065772.1 Q9ULL0 K1210_HUMAN KIAA1210 617 p.M617T(1)|p.M441T(1) breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 64 TCTCCTTCCCATGTCATCTTT 0.463000 41 36 0 0 0.092188 0 0 CD101 9398 broad.mit.edu 37 1 117559730 117559730 + Missense_Mutation SNP C C T TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr1:117559730C>T ENST00000256652.4 + 5 1305 c.1247C>T c.(1246-1248)tCt>tTt p.S416F CD101_ENST00000369470.1_Missense_Mutation_p.S416F NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4 NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2 Q93033 IGSF2_HUMAN CD101 molecule 416 Ig-like C2-type 4. cell surface receptor linked signaling pathway integral to membrane|plasma membrane hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides p.S416F(1) NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 GTGGTCATGTCTACCAAGAAC 0.413000 20 72 0 0 0.069288 0 0 TMEM2 23670 broad.mit.edu 37 9 74324386 74324386 + Missense_Mutation SNP G G A TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr9:74324386G>A ENST00000377044.4 - 17 3313 c.2774C>T c.(2773-2775)tCt>tTt p.S925F TMEM2_ENST00000377066.5_Missense_Mutation_p.S862F NM_001135820.1|NM_013390.2 NP_001129292.1|NP_037522.1 Q9UHN6 TMEM2_HUMAN transmembrane protein 2 925 integral to membrane p.S925F(1) central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2) 56 all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255) GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16) GACATTCAGAGAGACCTGACC 0.453000 30 42 0 0 0.134883 0 0 COL5A2 1290 broad.mit.edu 37 2 189950444 189950444 + Splice_Site SNP C C T TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr2:189950444C>T ENST00000374866.3 - 10 1019 c.e10+1 NM_000393.3 NP_000384.2 P05997 CO5A2_HUMAN collagen, type V, alpha 2 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent p.?(1) NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) TTGACATTTACCATTGGTCCA 0.403000 23 22 0 0 0.083992 0 0 OR5AN1 390195 broad.mit.edu 37 11 59132285 59132285 + Silent SNP C C T TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr11:59132285C>T ENST00000313940.2 + 1 401 c.354C>T c.(352-354)gcC>gcT p.A118A NM_001004729.1 NP_001004729.1 Q8NGI8 O5AN1_HUMAN olfactory receptor, family 5, subfamily AN, member 1 118 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A118A(1) breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 21 TCATGACAGCCATGGCTTATG 0.438000 5 133 0 0 0.184627 0 0 BAZ1B 9031 broad.mit.edu 37 7 72865289 72865289 + Silent SNP G G A TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr7:72865289G>A ENST00000339594.4 - 14 3806 c.3468C>T c.(3466-3468)atC>atT p.I1156I BAZ1B_ENST00000404251.1_Silent_p.I1156I NM_032408.3 NP_115784.1 Q9UIG0 BAZ1B_HUMAN bromodomain adjacent to zinc finger domain, 1B 1156 ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent WINAC complex ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding p.I1156I(1) NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Lung NSC(55;0.0659)|all_lung(88;0.152) GAGCTTCCCGGATTGCTGTCT 0.483000 31 51 0 0 0.134883 0 0 FOXG1 2290 broad.mit.edu 37 14 29236560 29236560 + Silent SNP C C T TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr14:29236560C>T ENST00000382535.3 + 2 444 c.75C>T c.(73-75)ccC>ccT p.P25P FOXG1_ENST00000313071.4_Silent_p.P25P P55316 FOXG1_HUMAN forkhead box G1 25 axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding p.P25P(1) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2) 43 LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575) GBM - Glioblastoma multiforme(265;0.00413) GCCTGGTGCCCGAGGCGGTCC 0.627000 3 12 0 0 0.115264 0 0 SYT3 84258 broad.mit.edu 37 19 51136047 51136047 + Missense_Mutation SNP G G A TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr19:51136047G>A ENST00000338916.4 - 2 803 c.170C>T c.(169-171)tCg>tTg p.S57L SYT3_ENST00000593901.1_Missense_Mutation_p.S57L|SYT3_ENST00000544769.1_Missense_Mutation_p.S57L|SYT3_ENST00000600079.1_Missense_Mutation_p.S57L NM_032298.2 NP_115674.1 Q9BQG1 SYT3_HUMAN synaptotagmin III 57 cell junction|endosome|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity p.S57L(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2) 35 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188) CACGATGACCGACAGCAGGCT 0.577000 28 74 0 0 0.116897 0 0 KLHL13 90293 broad.mit.edu 37 X 117053608 117053608 + Missense_Mutation SNP A A G TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chrX:117053608A>G ENST00000371876.1 - 3 2714 c.293T>C c.(292-294)aTt>aCt p.I98T KLHL13_ENST00000539496.1_Missense_Mutation_p.I152T|KLHL13_ENST00000541812.1_Missense_Mutation_p.I133T|KLHL13_ENST00000540167.1_Missense_Mutation_p.I133T|KLHL13_ENST00000262820.3_Missense_Mutation_p.I149T|KLHL13_ENST00000469946.1_Missense_Mutation_p.I98T|KLHL13_ENST00000371878.1_Missense_Mutation_p.I98T|KLHL13_ENST00000545703.1_Missense_Mutation_p.I107T|KLHL13_ENST00000371882.1_Missense_Mutation_p.I98T Q9P2N7 KLH13_HUMAN kelch-like family member 13 149 BTB. cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex p.I149T(1) NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 34 AATGAAATCAATAATTTTCCT 0.353000 55 88 0 0 0.139131 0 0 SNX32 254122 broad.mit.edu 37 11 65618824 65618824 + Missense_Mutation SNP C C G TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr11:65618824C>G ENST00000308342.6 + 8 1160 c.735C>G c.(733-735)atC>atG p.I245M NM_152760.2 NP_689973.2 Q86XE0 SNX32_HUMAN sorting nexin 32 245 cell communication|protein transport phosphatidylinositol binding p.I245M(1) endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 READ - Rectum adenocarcinoma(159;0.171) ATATCCCTATCTCAGCTGCGC 0.562000 OREG0021087 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 44 0 0 0.029380 0 0 SDK2 54549 broad.mit.edu 37 17 71391324 71391324 + Nonsense_Mutation SNP G G A TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr17:71391324G>A ENST00000392650.3 - 25 3562 c.3562C>T c.(3562-3564)Cag>Tag p.Q1188* SDK2_ENST00000388726.3_Nonsense_Mutation_p.Q1188* NM_001144952.1 NP_001138424.1 Q58EX2 SDK2_HUMAN sidekick cell adhesion molecule 2 1188 Fibronectin type-III 6. cell adhesion integral to membrane p.Q1188*(1) breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 ACCACCGTCTGGCTCCAGGGC 0.662000 11 6 0 0 0.093190 0 0 NOTUM 147111 broad.mit.edu 37 17 79910997 79910997 + Missense_Mutation SNP T T C TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr17:79910997T>C ENST00000409678.3 - 11 1714 c.1331A>G c.(1330-1332)cAc>cGc p.H444R NM_178493.5 NP_848588.3 Q6P988 NOTUM_HUMAN notum pectinacetylesterase homolog (Drosophila) 444 extracellular region hydrolase activity p.H378R(1) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 15 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) GGGGTTGCAGTGGGGCCAGGG 0.647000 28 24 0 0 0.125774 0 0 CACNA2D3 55799 broad.mit.edu 37 3 55052286 55052286 + Missense_Mutation SNP G G A TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr3:55052286G>A ENST00000474759.1 + 35 2977 c.2929G>A c.(2929-2931)Gtc>Atc p.V977I CACNA2D3_ENST00000415676.2_Missense_Mutation_p.V977I|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.V977I|CACNA2D3_ENST00000478261.1_3'UTR|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.V883I NM_018398.2 NP_060868.2 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 3 977 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity p.V977I(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3) 59 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) TCCAGCATTCGTCTCTGAGCG 0.488000 10 19 0 0 0.080935 0 0 FOXF1 2294 broad.mit.edu 37 16 86545073 86545073 + Missense_Mutation SNP C C A TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr16:86545073C>A ENST00000262426.4 + 1 941 c.898C>A c.(898-900)Ctg>Atg p.L300M NM_001451.2 NP_001442.2 Q12946 FOXF1_HUMAN forkhead box F1 300 branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding p.L275M(1) autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1) 12 GGCCAACCCCCTGTCCGGCAG 0.706000 9 5 6.31663e-08 6.58831e-08 0.132662 1 0 GDI2 2665 broad.mit.edu 37 10 5827911 5827911 + Missense_Mutation SNP T T C TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr10:5827911T>C ENST00000380191.4 - 5 781 c.491A>G c.(490-492)aAg>aGg p.K164R GDI2_ENST00000380132.4_Missense_Mutation_p.K168R|GDI2_ENST00000380181.3_Missense_Mutation_p.K119R NM_001115156.1|NM_001494.3 NP_001108628.1|NP_001485.2 P50395 GDIB_HUMAN GDP dissociation inhibitor 2 164 protein transport|small GTPase mediated signal transduction cell surface|cytosol|membrane protein binding|Rab GDP-dissociation inhibitor activity p.K164R(1) NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1) 10 TGTGGTCTTCTTAGGATCAAT 0.373000 91 132 0 0 0.139131 0 0 DLG2 1740 broad.mit.edu 37 11 84027997 84027997 + Silent SNP G G A TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr11:84027997G>A ENST00000280241.8 - 1 191 c.192C>T c.(190-192)acC>acT p.T64T DLG2_ENST00000543673.1_Intron|DLG2_ENST00000376104.2_Intron|DLG2_ENST00000524982.1_Intron|DLG2_ENST00000398301.2_Silent_p.T64T|DLG2_ENST00000398309.2_Intron|DLG2_ENST00000532653.1_Intron NM_001206769.1 NP_001193698.1 Q15700 DLG2_HUMAN discs, large homolog 2 (Drosophila) 0 cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding p.T64T(1) breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) TGGACCCCCCGGTCCTGTTTG 0.607000 48 127 0 0 0.139131 0 0 TBC1D1 23216 broad.mit.edu 37 4 38051323 38051323 + Missense_Mutation SNP G G A TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr4:38051323G>A ENST00000261439.4 + 11 2069 c.1714G>A c.(1714-1716)Gac>Aac p.D572N TBC1D1_ENST00000508802.1_Missense_Mutation_p.D572N NM_001253914.1|NM_001253915.1|NM_015173.3 NP_001240843.1|NP_001240844.1|NP_055988.2 Q86TI0 TBCD1_HUMAN TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 572 nucleus Rab GTPase activator activity p.D572N(3) NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 36 CCTGTCCAGTGACTCGGAGAG 0.592000 46 93 0 0 0.139131 0 0 OTUD7A 161725 broad.mit.edu 37 15 31851205 31851205 + Missense_Mutation SNP C C G TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr15:31851205C>G ENST00000382902.1 - 3 609 c.517G>C c.(517-519)Gag>Cag p.E173Q OTUD7A_ENST00000307050.4_Missense_Mutation_p.E173Q Q8TE49 OTU7A_HUMAN OTU domain containing 7A 173 TRAF-binding (By similarity). cytoplasm|nucleus cysteine-type peptidase activity|DNA binding|zinc ion binding p.E173Q(1)|p.E173K(1) endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 all_lung(180;1.6e-09) all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208) GTTGCCTGCTCGATCAAGTCC 0.572000 15 14 0 0 0.146539 0 0 MZF1 7593 broad.mit.edu 37 19 59082675 59082675 + Missense_Mutation SNP C C G TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr19:59082675C>G ENST00000215057.2 - 2 642 c.82G>C c.(82-84)Gag>Cag p.E28Q AC016629.8_ENST00000600534.1_RNA|MZF1_ENST00000599369.1_Missense_Mutation_p.E28Q|MZF1_ENST00000594108.1_Missense_Mutation_p.E28Q|MZF1_ENST00000594234.1_Missense_Mutation_p.E28Q NM_001267033.1|NM_198055.1 NP_001253962.1|NP_932172.1 P28698 MZF1_HUMAN myeloid zinc finger 1 28 viral reproduction nucleus protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding p.E28Q(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182) CCCTCCTCCTCAGAGTCCTCT 0.642000 36 52 0 0 0.080422 0 0 MAP3K1 4214 broad.mit.edu 37 5 56177956 56177956 + Nonsense_Mutation SNP C C T TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr5:56177956C>T ENST00000399503.3 + 14 2929 c.2929C>T c.(2929-2931)Caa>Taa p.Q977* NM_005921.1 NP_005912.1 Q13233 M3K1_HUMAN mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase 977 cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol ATP binding|zinc ion binding p.Q814*(1)|p.Q977*(1) NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1) 57 Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223) OV - Ovarian serous cystadenocarcinoma(10;6.08e-40) TCATCATTCCCAATTAATGTT 0.443000 44 34 0 0 0.117977 0 0 TMC8 147138 broad.mit.edu 37 17 76136924 76136924 + Missense_Mutation SNP G G A TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr17:76136924G>A ENST00000318430.5 + 16 2286 c.1912G>A c.(1912-1914)Gag>Aag p.E638K TMC8_ENST00000591144.1_3'UTR|TMC8_ENST00000589691.1_Missense_Mutation_p.E415K NM_152468.4 NP_689681.2 Q8IU68 TMC8_HUMAN transmembrane channel-like 8 638 endoplasmic reticulum membrane|integral to membrane p.E638K(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 12 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192) GCAGGTTCAGGAGAAGTGGCA 0.672000 11 6 0 0 0.069234 0 0 FOXRED2 80020 broad.mit.edu 37 22 36889755 36889755 + Missense_Mutation SNP G G A TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr22:36889755G>A ENST00000397224.4 - 8 1813 c.1720C>T c.(1720-1722)Ccg>Tcg p.P574S FOXRED2_ENST00000216187.6_Missense_Mutation_p.P574S|FOXRED2_ENST00000366463.3_Missense_Mutation_p.P126S|FOXRED2_ENST00000397223.4_Missense_Mutation_p.P574S NM_001102371.1 NP_001095841.1 Q8IWF2 FXRD2_HUMAN FAD-dependent oxidoreductase domain containing 2 574 ER-associated protein catabolic process endoplasmic reticulum lumen flavin adenine dinucleotide binding|oxidoreductase activity|protein binding p.P574S(1) breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 TGCCCGATCGGGGCAGTCCAG 0.562000 10 37 0 0 0.175082 0 0 APCDD1 147495 broad.mit.edu 37 18 10471657 10471657 + Missense_Mutation SNP C C T TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr18:10471657C>T ENST00000355285.5 + 3 727 c.373C>T c.(373-375)Cgg>Tgg p.R125W APCDD1_ENST00000578882.1_Missense_Mutation_p.R125W NM_153000.4 NP_694545.1 Q8J025 APCD1_HUMAN adenomatosis polyposis coli down-regulated 1 hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to plasma membrane Wnt-protein binding p.R125W(1) NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 READ - Rectum adenocarcinoma(15;0.08) TCTCATCATCCGGGGCAAGAT 0.547000 21 92 0 0 0.062417 0 0 R3HDM2 22864 broad.mit.edu 37 12 57662771 57662771 + Missense_Mutation SNP C C G TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr12:57662771C>G ENST00000402412.1 - 17 2199 c.1809G>C c.(1807-1809)caG>caC p.Q603H R3HDM2_ENST00000413953.2_Missense_Mutation_p.Q316H|R3HDM2_ENST00000403821.2_Missense_Mutation_p.Q623H|RP11-123K3.4_ENST00000548184.1_3'UTR|R3HDM2_ENST00000347140.3_Missense_Mutation_p.Q589H|R3HDM2_ENST00000441731.2_Missense_Mutation_p.Q284H|R3HDM2_ENST00000358907.2_Missense_Mutation_p.Q589H Q9Y2K5 R3HD2_HUMAN R3H domain containing 2 589 Gln-rich. nucleus nucleic acid binding p.Q589H(1)|p.Q250H(1) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 22 TGCTGCTCCTCTGGCTGCTGA 0.582000 65 62 0 0 0.139131 0 0 CD99L2 83692 broad.mit.edu 37 X 149963917 149963917 + Missense_Mutation SNP G G T TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chrX:149963917G>T ENST00000370377.3 - 5 437 c.320C>A c.(319-321)aCc>aAc p.T107N CD99L2_ENST00000437787.2_Intron|CD99L2_ENST00000355149.3_Intron|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000466436.1_Missense_Mutation_p.T58N NM_001242614.1|NM_031462.3 NP_001229543.1|NP_113650.2 Q8TCZ2 C99L2_HUMAN CD99 molecule-like 2 107 cell adhesion cell junction|integral to membrane p.T107N(1) endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) AGCTCTGGTGGTTACTGGCCT 0.517000 44 193 9.52127e-25 1.05349e-24 0.139131 1 0 RNF141 50862 broad.mit.edu 37 11 10536558 10536558 + Missense_Mutation SNP C C T TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr11:10536558C>T ENST00000265981.2 - 6 740 c.598G>A c.(598-600)Gaa>Aaa p.E200K NM_016422.3 NP_057506.2 Q8WVD5 RN141_HUMAN ring finger protein 141 200 zinc ion binding p.E200K(1) breast(1)|endometrium(2)|large_intestine(2)|lung(3)|urinary_tract(1) 9 all cancers(16;4.63e-08)|Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.064) ACCCAAGATTCATTTGCTCCA 0.438000 35 47 0 0 0.214465 0 0 CD22 933 broad.mit.edu 37 19 35828735 35828735 + Missense_Mutation SNP G G A rs138631884 TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr19:35828735G>A ENST00000085219.5 + 5 862 c.796G>A c.(796-798)Gag>Aag p.E266K CD22_ENST00000341773.6_Intron|CD22_ENST00000544992.2_Missense_Mutation_p.E266K|CD22_ENST00000270311.6_Missense_Mutation_p.E146K|CD22_ENST00000536635.2_Missense_Mutation_p.E266K|CD22_ENST00000419549.2_Missense_Mutation_p.E94K|CD22_ENST00000594250.1_Intron NM_001771.3 NP_001762.2 P20273 CD22_HUMAN CD22 molecule 266 Ig-like C2-type 2. cell adhesion protein binding|sugar binding p.E266K(1) breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 54 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) OspA lipoprotein(DB00045) CATGACCTGCGAGGTCAGCAG 0.577000 28 49 0 0 0.116897 0 0 OR6C76 390326 broad.mit.edu 37 12 55820919 55820919 + Silent SNP G G A TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr12:55820919G>A ENST00000328314.3 + 1 882 c.882G>A c.(880-882)gtG>gtA p.V294V NM_001005183.1 NP_001005183.1 A6NM76 O6C76_HUMAN olfactory receptor, family 6, subfamily C, member 76 294 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V294V(1) NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 ACCAGCAGGTGAAACAAGCAT 0.348000 12 25 0 0 0.093190 0 0 IGKV1D-17 28900 broad.mit.edu 37 2 90121946 90121946 + RNA SNP T T C TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr2:90121946T>C ENST00000483379.1 + 0 345 AGCAATTATTTAGCCTGGTTT 0.512000 123 1 0 0 0.139131 0 0 LRRC37A4P 55073 broad.mit.edu 37 17 43587576 43587576 + RNA SNP A A G rs145439557 by1000genomes TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr17:43587576A>G ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA tctgaaaagaaaagaaaaaaa 0.428000 3 18 0 0 0.184627 0 0 GPR179 440435 broad.mit.edu 37 17 36482906 36482906 + Silent SNP G G A TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr17:36482906G>A ENST00000342292.4 - 11 6566 c.6546C>T c.(6544-6546)gtC>gtT p.V2182V GPR179_ENST00000584976.1_Intron NM_001004334.2 NP_001004334.2 Q6PRD1 GP179_HUMAN G protein-coupled receptor 179 2182 integral to membrane|plasma membrane G-protein coupled receptor activity p.V2182V(1) 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) CCCCAGGGCAGACTGCCTCCT 0.592000 35 116 0 0 0.163468 0 0 IL1RAPL1 11141 broad.mit.edu 37 X 29973758 29973758 + Silent SNP C C T TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chrX:29973758C>T ENST00000378993.1 + 11 2585 c.1912C>T c.(1912-1914)Ctg>Ttg p.L638L IL1RAPL1_ENST00000302196.4_Silent_p.L638L NM_014271.3 NP_055086.1 Q9NZN1 IRPL1_HUMAN interleukin 1 receptor accessory protein-like 1 638 Interaction with NCS1. innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development cytoplasm|integral to membrane|plasma membrane protein binding|transmembrane receptor activity p.L638L(2) biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 TACCGGCACCCTGCCTCTTAC 0.502000 15 31 0 0 0.160694 0 0 KMT2C 58508 broad.mit.edu 37 7 151962186 151962186 + Missense_Mutation SNP G G T TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr7:151962186G>T ENST00000355193.2 - 8 1339 c.1121C>A c.(1120-1122)gCg>gAg p.A374E KMT2C_ENST00000262189.6_Missense_Mutation_p.A374E lysine (K)-specific methyltransferase 2C p.A374E(2) TGGAGTAACCGCTATATCCAG 0.453000 17 481 3.62473e-10 3.89224e-10 0.062417 1 0 NPHP3 27031 broad.mit.edu 37 3 132407701 132407701 + Missense_Mutation SNP C C T rs119456963 TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr3:132407701C>T ENST00000337331.5 - 21 3004 c.2918G>A c.(2917-2919)cGa>cAa p.R973Q NPHP3_ENST00000326682.8_3'UTR NM_153240.4 NP_694972.3 Q7Z494 NPHP3_HUMAN nephronophthisis 3 (adolescent) 973 R -> Q (in RHPD). maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway cilium protein binding p.R973Q(1) NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 AGCTGTTTCTCGAATCTCTAA 0.473000 33 70 0 0 0.163468 0 0 PLEKHB2 55041 broad.mit.edu 37 2 131904340 131904340 + Silent SNP C C T TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr2:131904340C>T ENST00000403716.1 + 8 1223 c.663C>T c.(661-663)gtC>gtT p.V221V PLEKHB2_ENST00000409612.1_Silent_p.V221V|PLEKHB2_ENST00000538982.1_Silent_p.V173V|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000234115.6_Silent_p.V220V|PLEKHB2_ENST00000409279.1_Silent_p.V221V|PLEKHB2_ENST00000439822.2_3'UTR|PLEKHB2_ENST00000438882.2_3'UTR|PLEKHB2_ENST00000409158.1_Silent_p.V229V|PLEKHB2_ENST00000303908.3_Intron NM_001100623.1|NM_001267062.1|NM_001267063.1|NM_001267064.1|NM_001267065.1|NM_001267066.1|NM_017958.2 NP_001094093.1|NP_001253991.1|NP_001253992.1|NP_001253993.1|NP_001253994.1|NP_001253995.1|NP_060428.2 Q96CS7 PKHB2_HUMAN pleckstrin homology domain containing, family B (evectins) member 2 221 membrane protein binding p.V220V(1) large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 BRCA - Breast invasive adenocarcinoma(221;0.0828) TATTTTGGGTCTTCTAGGGGC 0.488000 51 84 0 0 0.139131 0 0 FIGN 55137 broad.mit.edu 37 2 164466194 164466201 + Frame_Shift_Del DEL AATGGCTG AATGGCTG - TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr2:164466194_164466201delAATGGCTG ENST00000333129.3 - 3 2455_2462 c.2141_2148delCAGCCATT c.(2140-2148)tcagccattfs p.SAI714fs FIGN_ENST00000409634.1_Intron NM_018086.2 NP_060556.2 Q5HY92 FIGN_HUMAN fidgetin 714 nuclear matrix ATP binding|nucleoside-triphosphatase activity breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1) 47 GGCTGGGCATAATGGCTGAAAGGTCTGT 0.495 35 5 --- --- --- --- CSPG5 10675 broad.mit.edu 37 3 47619021 47619040 + Frame_Shift_Del DEL AGAAGCTGGGCTCAGCTTGT AGAAGCTGGGCTCAGCTTGT - rs35863063 byFrequency TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr3:47619021_47619040delAGAAGCTGGGCTCAGCTTGT ENST00000383738.2 - 2 2574_2593 c.476_495delACAAGCTGAGCCCAGCTTCT c.(475-495)gacaagctgagcccagcttctfs p.DKLSPAS159fs CSPG5_ENST00000456150.1_Frame_Shift_Del_p.DKLSPAS21fs|CSPG5_ENST00000264723.4_Frame_Shift_Del_p.DKLSPAS159fs NM_001206943.1|NM_001206945.1 NP_001193872.1|NP_001193874.1 O95196 CSPG5_HUMAN chondroitin sulfate proteoglycan 5 (neuroglycan C) 159 cell differentiation|intracellular transport|nervous system development|regulation of growth endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction growth factor activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2) 22 BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) TGGGGAGTTCAGAAGCTGGGCTCAGCTTGTCGCCGGGGGT 0.659 22 28 --- --- --- --- C6orf223 221416 broad.mit.edu 37 6 43970504 43970509 + In_Frame_Del DEL GCGGCG GCGGCG - rs72369323 TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr6:43970504_43970509delGCGGCG ENST00000336600.5 + 4 390_395 c.370_375delGCGGCG c.(370-375)gcggcgdel p.AA130del RP5-1120P11.1_ENST00000607590.1_RNA|C6orf223_ENST00000442114.2_In_Frame_Del_p.AA110del|C6orf223_ENST00000448947.2_3'UTR|RP5-1120P11.1_ENST00000422059.1_RNA|C6orf223_ENST00000439969.2_3'UTR NM_001171992.1|NM_153246.4 NP_001165463.1|NP_694978.2 Q8N319 CF223_HUMAN chromosome 6 open reading frame 223 130 Ala-rich. central_nervous_system(1)|lung(2)|pancreas(1)|prostate(1)|urinary_tract(1) 6 all_cancers(18;2.28e-07)|all_epithelial(2;1.62e-08)|Lung NSC(15;0.000172)|all_lung(25;0.000533)|Hepatocellular(11;0.00309)|Ovarian(13;0.0437) all cancers(41;0.00141)|Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.217) GGTAGAGCGCgcggcggcggcggcgg 0.772 4 6 --- --- --- --- XKR5 389610 broad.mit.edu 37 8 6679301 6679302 + RNA DEL CA CA - TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr8:6679301_6679302delCA ENST00000518724.1 - 0 958 Q6UX68 XKR5_HUMAN XK, Kell blood group complex subunit-related family, member 5 integral to membrane endometrium(1)|large_intestine(1)|lung(1) 3 STAD - Stomach adenocarcinoma(24;0.0984) READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166) TGCATTGGTGcacacacacaca 0.401 2 4 --- --- --- --- LOC646938 646938 broad.mit.edu 37 15 79045474 79045474 + RNA DEL T T - TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr15:79045474delT ENST00000434914.1 + 0 151 NR_036495.1 CAGTATCTCCTTTGGGGACCT 0.612 2 4 --- --- --- --- CTD-2245F17.3 0 broad.mit.edu 37 19 53703995 53703995 + RNA DEL T T - rs113703393 TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chr19:53703995delT ENST00000597550.1 + 0 232 TGTTTCCCCCttttttttttt 0.473 2 4 --- --- --- --- MAGEB4 4115 broad.mit.edu 37 X 30260833 30260833 + Frame_Shift_Del DEL C C - TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01a7081-8eb5-4728-a517-52156cdfe7ed 8be7e7a6-5f89-4f61-aaf5-0e8609f17124 g.chrX:30260833delC ENST00000378982.2 + 1 777 c.581delC c.(580-582)accfs p.T194fs NM_002367.3 NP_002358.1 O15481 MAGB4_HUMAN melanoma antigen family B, 4 194 MAGE. breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 27 AGTGCCTGGACCCTTCCAAGG 0.522 16 64 --- --- --- ---