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 RGPD3 653489 broad.mit.edu 37 2 107029712 107029712 + Missense_Mutation SNP T T A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr2:107029712T>A ENST00000409886.3 - 22 5181 c.5094A>T c.(5092-5094)gaA>gaT p.E1698D RGPD3_ENST00000304514.7_Missense_Mutation_p.E1698D NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 1698 intracellular transport binding breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 CTTGATTCCTTTCCAATCTTC 0.408000 74 23 0 0 1 0 0 SLC5A9 200010 broad.mit.edu 37 1 48699391 48699391 + Silent SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr1:48699391C>T ENST00000236495.5 + 10 1223 c.1173C>T c.(1171-1173)tcC>tcT p.S391S SLC5A9_ENST00000533824.1_Silent_p.S387S|SLC5A9_ENST00000438567.2_Silent_p.S366S|SLC5A9_ENST00000420136.2_3'UTR NM_001135181.1 NP_001128653.1 Q2M3M2 SC5A9_HUMAN solute carrier family 5 (sodium/sugar cotransporter), member 9 366 integral to membrane|plasma membrane low-affinity glucose:sodium symporter activity breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1) 26 TGGGATGTTCCAACATTGCCT 0.567000 13 20 0 0 1 0 0 CST5 1473 broad.mit.edu 37 20 23858219 23858219 + Missense_Mutation SNP A A T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr20:23858219A>T ENST00000304710.4 - 2 341 c.268T>A c.(268-270)Ttc>Atc p.F90I NM_001900.4 NP_001891.2 P28325 CYTD_HUMAN cystatin D 90 extracellular region cysteine-type endopeptidase inhibitor activity|protein binding breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1) 11 GTTCGACCGAACTTCACATTG 0.537000 50 59 0 0 1 0 0 MAP3K9 4293 broad.mit.edu 37 14 71199977 71199977 + Missense_Mutation SNP G G T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr14:71199977G>T ENST00000554752.2 - 11 2108 c.2109C>A c.(2107-2109)ttC>ttA p.F703L MAP3K9_ENST00000381250.4_Missense_Mutation_p.F680L|MAP3K9_ENST00000555993.2_Missense_Mutation_p.F717L|MAP3K9_ENST00000553414.1_Missense_Mutation_p.F436L|MAP3K9_ENST00000554146.1_Missense_Mutation_p.F431L P80192 M3K9_HUMAN mitogen-activated protein kinase kinase kinase 9 703 activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2) 46 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) CTCCACGAGGGAATGGGATAC 0.587000 20 40 2.54575e-18 2.59219e-18 1 1 0 DMGDH 29958 broad.mit.edu 37 5 78320152 78320152 + Splice_Site SNP A A G TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr5:78320152A>G ENST00000255189.3 - 14 2220 c.2190_splice c.e14-1 p.M731_splice DMGDH_ENST00000380311.4_Splice_Site_p.M530_splice|DMGDH_ENST00000540686.1_Splice_Site_p.M351_splice NM_013391.2 NP_037523.2 Q9UI17 M2GD_HUMAN dimethylglycine dehydrogenase 731 choline metabolic process|glycine catabolic process mitochondrial matrix aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 34 all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192) OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35) ATCACAGTTCATCTAAAAAGG 0.308000 16 8 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 3889434 3889434 + Missense_Mutation SNP A A C TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr8:3889434A>C ENST00000520002.1 - 4 1158 c.603T>G c.(601-603)ttT>ttG p.F201L CSMD1_ENST00000539096.1_Missense_Mutation_p.F201L|CSMD1_ENST00000400186.3_Missense_Mutation_p.F201L|CSMD1_ENST00000602723.1_Missense_Mutation_p.F201L|CSMD1_ENST00000602557.1_Missense_Mutation_p.F201L|CSMD1_ENST00000537824.1_Missense_Mutation_p.F201L|CSMD1_ENST00000542608.1_Missense_Mutation_p.F201L Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 201 Sushi 1. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TACCTCTGCAAAAGGGAGCTG 0.527000 10 16 0 0 1 0 0 MYRF 745 broad.mit.edu 37 11 61536764 61536764 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr11:61536764C>T ENST00000278836.5 + 4 527 c.431C>T c.(430-432)tCc>tTc p.S144F MYRF_ENST00000265460.5_Missense_Mutation_p.S135F|TMEM258_ENST00000535042.1_Intron NM_001127392.1 NP_001120864.1 myelin regulatory factor GACTCGGGCTCCGAGGCCTAC 0.677000 5 7 0 0 1 0 0 LMX1A 4009 broad.mit.edu 37 1 165173261 165173261 + Silent SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr1:165173261G>A ENST00000342310.3 - 9 1387 c.1005C>T c.(1003-1005)ttC>ttT p.F335F LMX1A_ENST00000367893.4_Silent_p.F335F|LMX1A_ENST00000489443.2_5'UTR|LMX1A_ENST00000294816.2_Silent_p.F335F NM_177398.3 NP_796372.1 Q8TE12 LMX1A_HUMAN LIM homeobox transcription factor 1, alpha 335 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4) 35 all_hematologic(923;0.248) CCAGGTCATGGAAAAGGGGCT 0.507000 34 80 0 0 1 0 0 NINJ2 4815 broad.mit.edu 37 12 675325 675325 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr12:675325C>T ENST00000305108.4 - 2 471 c.191G>A c.(190-192)aGg>aAg p.R64K NINJ2_ENST00000537416.1_Intron|NINJ2_ENST00000433832.2_5'UTR|NINJ2_ENST00000397265.3_Missense_Mutation_p.R11K|NINJ2_ENST00000542920.1_5'UTR NM_016533.4 NP_057617.2 Q9NZG7 NINJ2_HUMAN ninjurin 2 18 nervous system development|neuron cell-cell adhesion|tissue regeneration integral to plasma membrane large_intestine(3)|lung(1)|ovary(2) 6 all_cancers(10;0.0101)|all_epithelial(11;0.0174)|Ovarian(42;0.0512)|all_lung(10;0.103)|Lung NSC(10;0.185) OV - Ovarian serous cystadenocarcinoma(31;3.26e-05)|BRCA - Breast invasive adenocarcinoma(9;0.0508) GGGCTGGCTCCTGGGGTCGGA 0.587000 16 19 0 0 1 0 0 NRG1 3084 broad.mit.edu 37 8 32463202 32463202 + Splice_Site SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr8:32463202G>A ENST00000341377.5 + 3 917 c.e3+1 NRG1_ENST00000287845.5_Splice_Site|NRG1_ENST00000405005.2_Splice_Site|NRG1_ENST00000287840.5_Splice_Site|NRG1_ENST00000519301.1_Splice_Site|NRG1_ENST00000338921.4_Splice_Site|NRG1_ENST00000521670.1_Splice_Site|NRG1_ENST00000287842.3_Splice_Site|NRG1_ENST00000523079.1_Splice_Site|NRG1_ENST00000356819.4_Splice_Site|NRG1_ENST00000520407.1_Splice_Site Q02297 NRG1_HUMAN neuregulin 1 activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1) 39 Breast(100;0.203) KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943) GAATCAAACGGTAAGAGATAC 0.393000 30 55 0 0 1 0 0 PNPLA7 375775 broad.mit.edu 37 9 140409901 140409901 + Silent SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr9:140409901G>A ENST00000406427.1 - 12 1491 c.1155C>T c.(1153-1155)tcC>tcT p.S385S PNPLA7_ENST00000371457.1_5'UTR|PNPLA7_ENST00000277531.4_Silent_p.S360S NM_001098537.1 NP_001092007.1 Q6ZV29 PLPL7_HUMAN patatin-like phospholipase domain containing 7 360 Missing (in Ref. 1; BAC86509). lipid metabolic process endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane hydrolase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_cancers(76;0.126) OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839) GTTTGCGAATGGAAGGCGCGG 0.667000 7 2 0 0 1 0 0 OR52R1 119695 broad.mit.edu 37 11 4825016 4825016 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr11:4825016G>A ENST00000380382.1 - 1 831 c.832C>T c.(832-834)Cgt>Tgt p.R278C MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron|OR52R1_ENST00000356069.2_Missense_Mutation_p.R199C Q8NGF1 O52R1_HUMAN olfactory receptor, family 52, subfamily R, member 1 199 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3) 29 Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) CCATTCCCACGACTTATGCTT 0.493000 32 46 0 0 1 0 0 IGSF9B 22997 broad.mit.edu 37 11 133807296 133807296 + Silent SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr11:133807296G>A ENST00000321016.8 - 5 884 c.654C>T c.(652-654)gtC>gtT p.V218V IGSF9B_ENST00000533871.2_Silent_p.V218V Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 218 Ig-like 2. integral to membrane|plasma membrane breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) GAGTCGTGTGGACAGCCTCCC 0.632000 6 27 0 0 1 0 0 UGT3A1 133688 broad.mit.edu 37 5 35968128 35968128 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr5:35968128C>T ENST00000274278.3 - 3 661 c.304G>A c.(304-306)Gat>Aat p.D102N UGT3A1_ENST00000507113.1_Missense_Mutation_p.D68N|UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000333811.4_Missense_Mutation_p.D48N|UGT3A1_ENST00000503189.1_Missense_Mutation_p.D102N NM_152404.3 NP_689617.3 Q6NUS8 UD3A1_HUMAN UDP glycosyltransferase 3 family, polypeptide A1 102 integral to membrane glucuronosyltransferase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4) 46 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TACCTGCCATCCAATGCTGTT 0.338000 6 19 0 0 1 0 0 STAB2 55576 broad.mit.edu 37 12 104049291 104049291 + Missense_Mutation SNP T T A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr12:104049291T>A ENST00000388887.2 + 15 1870 c.1666T>A c.(1666-1668)Ttt>Att p.F556I RP11-341G23.2_ENST00000551905.1_RNA NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 556 FAS1 2. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 ATACACCATTTTTGTTCCAAA 0.438000 18 45 0 0 1 0 0 PRR16 51334 broad.mit.edu 37 5 120022027 120022027 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr5:120022027G>A ENST00000379551.2 + 3 826 c.469G>A c.(469-471)Gac>Aac p.D157N PRR16_ENST00000505123.1_Missense_Mutation_p.D110N|PRR16_ENST00000407149.2_Missense_Mutation_p.D180N|PRR16_ENST00000446965.1_Missense_Mutation_p.D110N NM_016644.1 NP_057728.1 Q569H4 PRR16_HUMAN proline rich 16 180 Pro-rich. endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 28 all_cancers(142;0.0464)|Prostate(80;0.00446) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169) CAGTAACTTGGACAAGGCTCC 0.458000 26 13 0 0 1 0 0 LRRC36 55282 broad.mit.edu 37 16 67418797 67418797 + Nonsense_Mutation SNP T T G TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr16:67418797T>G ENST00000329956.6 + 14 2089 c.2070T>G c.(2068-2070)taT>taG p.Y690* LRRC36_ENST00000290940.7_3'UTR|LRRC36_ENST00000435835.3_Nonsense_Mutation_p.Y465*|LRRC36_ENST00000541146.1_Nonsense_Mutation_p.Y162*|LRRC36_ENST00000563189.1_Nonsense_Mutation_p.Y569* NM_018296.5 NP_060766.5 Q1X8D7 LRC36_HUMAN leucine rich repeat containing 36 690 endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 24 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161) CTAATGAGTATCTGCTGCAGC 0.498000 27 45 0 0 1 0 0 CDX4 1046 broad.mit.edu 37 X 72667221 72667221 + Silent SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chrX:72667221C>T ENST00000373514.2 + 1 132 c.132C>T c.(130-132)ttC>ttT p.F44F NM_005193.1 NP_005184.1 O14627 CDX4_HUMAN caudal type homeobox 4 44 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1) 18 Renal(35;0.156) CCTCCAATTTCGCTGCGGCAC 0.642000 18 5 0 0 1 0 0 SHANK1 50944 broad.mit.edu 37 19 51220062 51220062 + Missense_Mutation SNP C C G TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr19:51220062C>G ENST00000293441.1 - 1 133 c.115G>C c.(115-117)Ggg>Cgg p.G39R SHANK1_ENST00000391814.1_Missense_Mutation_p.G39R|SHANK1_ENST00000359082.3_Missense_Mutation_p.G39R NM_016148.2 NP_057232.2 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 39 cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 64 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) CCCCGGGTCCCCCGGGGGCCT 0.701000 15 20 0 0 1 0 0 TRIOBP 11078 broad.mit.edu 37 22 38120707 38120707 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr22:38120707C>T ENST00000406386.3 + 7 2399 c.2144C>T c.(2143-2145)aCc>aTc p.T715I RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 715 RTTQQEN -> KSTFGCL (in Ref. 7; BAB33332). actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) AACAGAACCACCCAACAAGAG 0.577000 4 111 0 0 1 0 0 PPIP5K1 9677 broad.mit.edu 37 15 43827375 43827375 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr15:43827375G>A ENST00000420765.1 - 31 3981 c.3799C>T c.(3799-3801)Cca>Tca p.P1267S PPIP5K1_ENST00000381879.4_Missense_Mutation_p.P1243S|PPIP5K1_ENST00000396923.3_Missense_Mutation_p.P1267S|PPIP5K1_ENST00000381885.1_Missense_Mutation_p.P1263S|PPIP5K1_ENST00000360301.4_Missense_Mutation_p.P1242S|PPIP5K1_ENST00000360135.4_Missense_Mutation_p.P1240S|PPIP5K1_ENST00000348806.6_Missense_Mutation_p.P1240S|PPIP5K1_ENST00000334933.4_Missense_Mutation_p.P1242S NM_001130858.2 NP_001124330.1 Q6PFW1 VIP1_HUMAN diphosphoinositol pentakisphosphate kinase 1 1267 inositol metabolic process cytosol acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity large_intestine(1) 1 TCCTGGCATGGCTGGCTGATG 0.552000 68 114 0 0 1 0 0 TAS2R38 5726 broad.mit.edu 37 7 141673247 141673247 + Silent SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr7:141673247G>A ENST00000547270.1 - 1 326 c.243C>T c.(241-243)ttC>ttT p.F81F NM_176817.4 NP_789787.4 P59533 T2R38_HUMAN taste receptor, type 2, member 38 81 sensory perception of taste integral to membrane G-protein coupled receptor activity NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1) 21 Melanoma(164;0.0171) TCAACTTCTGGAAGTGGGTAA 0.527000 51 84 0 0 1 0 0 SNTG1 54212 broad.mit.edu 37 8 51415431 51415431 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr8:51415431G>A ENST00000522124.1 + 9 1118 c.457G>A c.(457-459)Gat>Aat p.D153N SNTG1_ENST00000276467.5_Missense_Mutation_p.D153N|SNTG1_ENST00000518864.1_Missense_Mutation_p.D153N|SNTG1_ENST00000517473.1_Missense_Mutation_p.D153N NM_018967.2 NP_061840.1 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 153 cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 66 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) ATTGAATGAAGATTGTGCATG 0.323000 15 33 0 0 1 0 0 UGT1A3 54659 broad.mit.edu 37 2 234637997 234637997 + Silent SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr2:234637997C>T ENST00000482026.1 + 1 244 c.225C>T c.(223-225)ttC>ttT p.F75F UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A4_ENST00000373409.3_Intron NM_019093.2 NP_061966.1 breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 46 Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128) Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599) AGAACTTTTTCACCCTGACAA 0.507000 40 69 0 0 1 0 0 ZNF852 285346 broad.mit.edu 37 3 44541670 44541670 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr3:44541670G>A ENST00000436261.1 - 4 759 c.599C>T c.(598-600)tCc>tTc p.S200F ZNF852_ENST00000489411.1_5'UTR B6EU87 B6EU87_HUMAN zinc finger protein 852 200 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding endometrium(2)|kidney(1)|lung(5) 8 AATGAGCTGGGAGGTTTGCCT 0.488000 11 6 0 0 1 0 0 FAM193B 54540 broad.mit.edu 37 5 176951710 176951710 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr5:176951710G>A ENST00000329540.5 - 9 3479 c.650C>T c.(649-651)cCc>cTc p.P217L FAM193B_ENST00000514747.1_Missense_Mutation_p.P591L|FAM193B_ENST00000443375.2_Missense_Mutation_p.P558L Q6IPW0 Q6IPW0_HUMAN family with sequence similarity 193, member B 267 kidney(1)|large_intestine(3) 4 GGATAGGTTGGGCACGGTGTT 0.632000 5 1 0 0 1 0 0 OR6C70 390327 broad.mit.edu 37 12 55863430 55863430 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr12:55863430C>T ENST00000327335.4 - 1 492 c.493G>A c.(493-495)Gat>Aat p.D165N RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA NM_001005499.1 NP_001005499.1 A6NIJ9 O6C70_HUMAN olfactory receptor, family 6, subfamily C, member 70 165 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.D165N(1) autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 18 GCACAGAAATCCAAGTTAAGA 0.368000 23 44 0 0 1 0 0 NPHP3 27031 broad.mit.edu 37 3 132411611 132411611 + Missense_Mutation SNP T T C TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr3:132411611T>C ENST00000337331.5 - 17 2448 c.2362A>G c.(2362-2364)Atg>Gtg p.M788V NPHP3_ENST00000326682.8_3'UTR NM_153240.4 NP_694972.3 Q7Z494 NPHP3_HUMAN nephronophthisis 3 (adolescent) 788 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 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 TAGAGTTCCATCAGTTCTGAT 0.378000 26 45 0 0 1 0 0 NPY4R 5540 broad.mit.edu 37 10 47087023 47087023 + Silent SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr10:47087023C>T ENST00000374312.1 + 3 659 c.240C>T c.(238-240)atC>atT p.I80I NPY4R_ENST00000395716.1_Silent_p.I80I NM_005972.4 NP_005963.3 neuropeptide Y receptor Y4 ACCTGCTTATCGCCAACCTGG 0.562000 19 129 0 0 1 0 0 ZNF804A 91752 broad.mit.edu 37 2 185802855 185802855 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr2:185802855C>T ENST00000302277.6 + 4 3326 c.2732C>T c.(2731-2733)tCc>tTc p.S911F NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 911 intracellular zinc ion binding p.S911Y(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 TCAGATGTTTCCAATGATCCC 0.403000 57 21 0 0 1 0 0 ATP13A2 23400 broad.mit.edu 37 1 17316751 17316751 + Silent SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr1:17316751G>A ENST00000452699.1 - 21 2457 c.2268C>T c.(2266-2268)gcC>gcT p.A756A RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000341676.5_Silent_p.A756A|ATP13A2_ENST00000326735.8_Silent_p.A761A NM_001141973.1|NM_022089.2 NP_001135445.1|NP_071372.1 Q9NQ11 AT132_HUMAN ATPase type 13A2 761 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182) CACAGCCCCGGGCCACAGTCA 0.647000 36 45 0 0 1 0 0 GGT1 2678 broad.mit.edu 37 22 25011012 25011012 + Silent SNP A A G TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr22:25011012A>G ENST00000400382.1 + 7 1055 c.300A>G c.(298-300)aaA>aaG p.K100K GGT1_ENST00000248923.4_Silent_p.K100K|GGT1_ENST00000400380.1_Silent_p.K100K|GGT1_ENST00000406383.2_Silent_p.K100K|GGT1_ENST00000400383.1_Silent_p.K100K P19440 GGT1_HUMAN gamma-glutamyltransferase 1 100 glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity|protein binding breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 40 Glutathione(DB00143) TTCTAGGAAAAGCTGAGGTCA 0.637000 23 26 0 0 1 0 0 SEMA3D 223117 broad.mit.edu 37 7 84628980 84628980 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr7:84628980C>T ENST00000284136.6 - 17 2153 c.2110G>A c.(2110-2112)Gat>Aat p.D704N SEMA3D_ENST00000484038.1_5'UTR NM_152754.2 NP_689967.2 O95025 SEM3D_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D 704 cell differentiation|nervous system development extracellular region|membrane receptor activity NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2) 73 GCCAATAGATCCTTGACCTTC 0.473000 27 42 0 0 1 0 0 STAG3 10734 broad.mit.edu 37 7 99780444 99780444 + Silent SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr7:99780444C>T ENST00000426455.1 + 4 725 c.318C>T c.(316-318)gcC>gcT p.A106A STAG3_ENST00000394018.2_Silent_p.A106A|STAG3_ENST00000317296.5_Silent_p.A106A Q9UJ98 STAG3_HUMAN stromal antigen 3 106 chromosome segregation|synaptonemal complex assembly chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex binding breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 66 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CTGTGAAAGCCGCCAAAAGTG 0.458000 5 353 0 0 1 0 0 TRANK1 9881 broad.mit.edu 37 3 36879973 36879973 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr3:36879973C>T ENST00000301807.6 - 19 5522 c.3625G>A c.(3625-3627)Gaa>Aaa p.E1209K TRANK1_ENST00000429976.2_Missense_Mutation_p.E1759K|TRANK1_ENST00000428977.2_Missense_Mutation_p.E1209K NM_014831.2 NP_055646.2 O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 1759 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 TTAGCCAATTCCAAATATTCC 0.458000 30 19 0 0 1 0 0 COL4A3 1285 broad.mit.edu 37 2 228153911 228153911 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr2:228153911G>A ENST00000396578.3 + 35 3089 c.2927G>A c.(2926-2928)gGg>gAg p.G976E AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000433324.1_RNA NM_000091.4 NP_000082.2 Q01955 CO4A3_HUMAN collagen, type IV, alpha 3 (Goodpasture antigen) 976 Triple-helical region. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) GGCGTTCCAGGGATGCCAGGT 0.463000 21 2 0 0 1 0 0 KIAA0319 9856 broad.mit.edu 37 6 24596484 24596484 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr6:24596484C>T ENST00000535378.1 - 4 1033 c.391G>A c.(391-393)Gac>Aac p.D131N KIAA0319_ENST00000543707.1_Missense_Mutation_p.D140N|KIAA0319_ENST00000537886.1_Missense_Mutation_p.D140N|KIAA0319_ENST00000378214.3_Missense_Mutation_p.D140N|KIAA0319_ENST00000430948.2_Missense_Mutation_p.D95N NM_001168374.1 NP_001161846.1 Q5VV43 K0319_HUMAN KIAA0319 140 negative regulation of dendrite development|neuron migration early endosome membrane|integral to membrane|plasma membrane protein binding breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 53 AAGGTCAAGTCCTTTCTGATA 0.557000 27 61 0 0 1 0 0 CARD14 79092 broad.mit.edu 37 17 78169401 78169401 + Missense_Mutation SNP G G C TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr17:78169401G>C ENST00000573882.1 + 13 2080 c.1544G>C c.(1543-1545)gGa>gCa p.G515A CARD14_ENST00000344227.2_Missense_Mutation_p.G515A|CARD14_ENST00000573754.1_3'UTR|CARD14_ENST00000392434.2_Missense_Mutation_p.G278A|CARD14_ENST00000570421.1_Missense_Mutation_p.G515A Q9BXL6 CAR14_HUMAN caspase recruitment domain family, member 14 515 activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis aggresome|cytoplasm|plasma membrane CARD domain binding NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1) 23 all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908) GCCCTGCCGGGAGCTAAGGCA 0.632000 19 32 0 0 1 0 0 SVEP1 79987 broad.mit.edu 37 9 113169625 113169625 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr9:113169625G>A ENST00000401783.2 - 38 8591 c.8255C>T c.(8254-8256)tCt>tTt p.S2752F SVEP1_ENST00000297826.5_Missense_Mutation_p.S678F|SVEP1_ENST00000374469.1_Missense_Mutation_p.S2729F NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 2752 Sushi 22. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 CCTTAAGTCAGAGCCTGCTAG 0.463000 20 17 0 0 1 0 0 ARG1 383 broad.mit.edu 37 6 131894455 131894455 + Silent SNP T T A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr6:131894455T>A ENST00000368087.3 + 1 172 c.33T>A c.(31-33)atT>atA p.I11I ARG1_ENST00000476845.1_Silent_p.I11I|ARG1_ENST00000356962.2_Silent_p.I11I|ARG1_ENST00000498260.1_3'UTR P05089 ARGI1_HUMAN arginase 1 11 I -> T (in ARGIN; 12% of wild-type activity; dbSNP:rs28941474). arginine catabolic process|urea cycle cytosol arginase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|skin(3) 14 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0106)|OV - Ovarian serous cystadenocarcinoma(155;0.0713) L-Ornithine(DB00129) TAGGGATTATTGGAGCTCCTT 0.428000 28 24 0 0 1 0 0 TBL2 26608 broad.mit.edu 37 7 72985290 72985290 + Silent SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr7:72985290G>A ENST00000305632.5 - 7 1132 c.891C>T c.(889-891)gtC>gtT p.V297V TBL2_ENST00000459913.1_5'UTR|TBL2_ENST00000432538.1_Silent_p.V261V NM_012453.2 NP_036585.1 Q9Y4P3 TBL2_HUMAN transducin (beta)-like 2 297 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 19 Lung NSC(55;0.0659)|all_lung(88;0.152) CATCCTTGGAGACAGAAGCCA 0.542000 29 57 0 0 1 0 0 FRMD6 122786 broad.mit.edu 37 14 52182062 52182062 + Missense_Mutation SNP T T C TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr14:52182062T>C ENST00000395718.2 + 10 1130 c.845T>C c.(844-846)tTg>tCg p.L282S FRMD6_ENST00000356218.4_Missense_Mutation_p.L282S|FRMD6_ENST00000344768.5_Missense_Mutation_p.L290S|FRMD6_ENST00000554167.1_Missense_Mutation_p.L213S NM_001267046.1|NM_152330.3 NP_001253975.1|NP_689543.1 Q96NE9 FRMD6_HUMAN FERM domain containing 6 290 FERM. cytoskeleton|mitochondrion|plasma membrane binding breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_epithelial(31;0.0163)|Breast(41;0.089) TTTGAGATTTTGCCAGATGGC 0.473000 30 44 0 0 1 0 0 NDUFV3 4731 broad.mit.edu 37 21 44324272 44324272 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr21:44324272C>T ENST00000354250.2 + 3 1219 c.1150C>T c.(1150-1152)Cct>Tct p.P384S NDUFV3_ENST00000460259.1_3'UTR|NDUFV3_ENST00000340344.3_Intron NM_021075.3 NP_066553.3 P56181 NDUV3_HUMAN NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa 0 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I|nucleus NADH dehydrogenase (ubiquinone) activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1) 10 STAD - Stomach adenocarcinoma(101;0.0606) NADH(DB00157) GGAGACAGTTCCTGTTGAGAA 0.557000 16 21 0 0 1 0 0 CDH6 1004 broad.mit.edu 37 5 31302335 31302335 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr5:31302335G>A ENST00000265071.2 + 6 1194 c.929G>A c.(928-930)gGt>gAt p.G310D CDH6_ENST00000514738.1_Missense_Mutation_p.G255D NM_004932.3 NP_004923.1 P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 310 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 ATCACAGACGGTGAGGGGCTG 0.478000 20 41 0 0 1 0 0 FPR1 2357 broad.mit.edu 37 19 52249630 52249630 + Silent SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr19:52249630G>A ENST00000595042.1 - 3 759 c.618C>T c.(616-618)ttC>ttT p.F206F FPR1_ENST00000304748.4_Silent_p.F206F NM_001193306.1 NP_001180235.1 P21462 FPR1_HUMAN formyl peptide receptor 1 206 activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction endosome|integral to membrane|plasma membrane N-formyl peptide receptor activity endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3) 20 all_neural(266;0.0189)|Medulloblastoma(540;0.146) GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018) Nedocromil(DB00716) AGCCAATGATGAACCGGATGA 0.507000 40 56 0 0 1 0 0 BUB3 9184 broad.mit.edu 37 10 124917345 124917345 + Silent SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr10:124917345G>A ENST00000368865.4 + 4 575 c.366G>A c.(364-366)ctG>ctA p.L122L BUB3_ENST00000368858.5_Silent_p.L122L|BUB3_ENST00000368859.2_Silent_p.L122L|BUB3_ENST00000538238.1_Silent_p.L42L NM_004725.3 NP_004716.1 O43684 BUB3_HUMAN BUB3 mitotic checkpoint protein 122 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|attachment of spindle microtubules to kinetochore|cell division|meiosis|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle condensed chromosome kinetochore|cytosol|nucleus protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1) 9 all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163) CAGTTAAACTGTGGGATCCCA 0.443000 15 33 0 0 1 0 0 OLR1 4973 broad.mit.edu 37 12 10321753 10321753 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr12:10321753G>A ENST00000309539.3 - 2 158 c.98C>T c.(97-99)cCa>cTa p.P33L OLR1_ENST00000432556.2_Missense_Mutation_p.P33L|OLR1_ENST00000545927.1_Missense_Mutation_p.P33L|OLR1_ENST00000544577.1_Missense_Mutation_p.P33L NM_002543.3 NP_002534.1 P78380 OLR1_HUMAN oxidized low density lipoprotein (lectin-like) receptor 1 33 blood circulation|blood coagulation|inflammatory response|leukocyte migration|proteolysis extracellular region|integral to plasma membrane|membrane fraction sugar binding breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1) 10 GCACCACCATGGAGAGTAAAG 0.458000 14 32 0 0 1 0 0 ARPP21 10777 broad.mit.edu 37 3 35763134 35763134 + Nonsense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr3:35763134C>T ENST00000187397.4 + 14 1489 c.1033C>T c.(1033-1035)Cga>Tga p.R345* ARPP21_ENST00000337271.5_Nonsense_Mutation_p.R291*|ARPP21_ENST00000458225.1_Nonsense_Mutation_p.R311*|ARPP21_ENST00000444190.1_Nonsense_Mutation_p.R291*|ARPP21_ENST00000417925.1_Nonsense_Mutation_p.R311* NM_016300.4 NP_057384.2 Q9UBL0 ARP21_HUMAN cAMP-regulated phosphoprotein, 21kDa 345 Ser-rich. cytoplasm nucleic acid binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 ATCTGGGAGTCGACAGAGCAG 0.532000 9 11 0 0 1 0 0 ZHX2 22882 broad.mit.edu 37 8 123964128 123964128 + Silent SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr8:123964128C>T ENST00000314393.4 + 3 1213 c.378C>T c.(376-378)tcC>tcT p.S126S NM_014943.3 NP_055758.1 Q9Y6X8 ZHX2_HUMAN zinc fingers and homeoboxes 2 126 cytoplasm|nucleus|plasma membrane protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1) 45 Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105) STAD - Stomach adenocarcinoma(47;0.00527) ACTCCCTATCCGACCACAACT 0.478000 43 55 0 0 1 0 0 MYO18A 399687 broad.mit.edu 37 17 27437561 27437561 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr17:27437561C>T ENST00000527372.1 - 18 3160 c.2980G>A c.(2980-2982)Ggc>Agc p.G994S MYO18A_ENST00000354329.4_Missense_Mutation_p.G994S|MYO18A_ENST00000533112.1_Missense_Mutation_p.G994S|MYO18A_ENST00000531253.1_Missense_Mutation_p.G994S NM_078471.3 NP_510880.2 Q92614 MY18A_HUMAN myosin XVIIIA 994 Myosin head-like. anti-apoptosis|DNA metabolic process ER-Golgi intermediate compartment|myosin complex ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2) 36 Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) AGCTGCGAGCCGCCCTCCAGG 0.602000 9 15 0 0 1 0 0 NLRP2 55655 broad.mit.edu 37 19 55493908 55493908 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr19:55493908G>A ENST00000543010.1 + 6 985 c.842G>A c.(841-843)cGg>cAg p.R281Q NLRP2_ENST00000263437.6_Missense_Mutation_p.R278Q|NLRP2_ENST00000339757.7_Missense_Mutation_p.R259Q|NLRP2_ENST00000391721.4_Missense_Mutation_p.R257Q|NLRP2_ENST00000427260.2_Missense_Mutation_p.R258Q|NLRP2_ENST00000538819.1_Missense_Mutation_p.R257Q|NLRP2_ENST00000537859.1_Missense_Mutation_p.R259Q|NLRP2_ENST00000448584.2_Missense_Mutation_p.R281Q NM_001174081.1 NP_001167552.1 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 281 NACHT. apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 11 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) GCCCAAGCACGGAAAATCTTG 0.587000 25 46 0 0 1 0 0 NEIL2 252969 broad.mit.edu 37 8 11628989 11628989 + Silent SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr8:11628989C>T ENST00000284503.6 + 2 632 c.33C>T c.(31-33)caC>caT p.H11H NEIL2_ENST00000436750.3_Silent_p.H11H|NEIL2_ENST00000455213.2_Silent_p.H11H|NEIL2_ENST00000528323.1_Silent_p.H11H|NEIL2_ENST00000403422.3_Intron NM_145043.2 NP_659480.1 Q969S2 NEIL2_HUMAN nei endonuclease VIII-like 2 (E. coli) 11 base-excision repair|nucleotide-excision repair nucleus damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|hydrolase activity, hydrolyzing N-glycosyl compounds|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1) 10 all_epithelial(15;0.103) STAD - Stomach adenocarcinoma(15;0.00225) COAD - Colon adenocarcinoma(149;0.166) GGAAATTTCACCATTTGGTCT 0.547000 Base excision repair (BER), DNA glycosylases 48 49 0 0 1 0 0 PRKCB 5579 broad.mit.edu 37 16 24166021 24166021 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr16:24166021G>A ENST00000303531.7 + 10 1234 c.1082G>A c.(1081-1083)cGa>cAa p.R361Q PRKCB_ENST00000321728.7_Missense_Mutation_p.R361Q NM_002738.6 NP_002729.2 P05771 KPCB_HUMAN protein kinase C, beta 361 Protein kinase. apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3) 9 Vitamin E(DB00163) CTTTCAGAACGAAAAGGCACA 0.507000 16 37 0 0 1 0 0 MMS22L 253714 broad.mit.edu 37 6 97717824 97717824 + Missense_Mutation SNP T T C TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr6:97717824T>C ENST00000275053.4 - 7 916 c.651A>G c.(649-651)atA>atG p.I217M MMS22L_ENST00000369251.2_Missense_Mutation_p.I217M|MMS22L_ENST00000506256.1_5'UTR NM_198468.2 NP_940870.2 Q6ZRQ5 MMS22_HUMAN MMS22-like, DNA repair protein 217 double-strand break repair via homologous recombination|replication fork processing nuclear replication fork protein binding breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 50 CCAGCCAATGTATATCCAAGT 0.308000 30 16 0 0 1 0 0 COL21A1 81578 broad.mit.edu 37 6 55989073 55989073 + Silent SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr6:55989073C>T ENST00000244728.5 - 15 2065 c.1668G>A c.(1666-1668)aaG>aaA p.K556K COL21A1_ENST00000370819.1_Silent_p.K553K|COL21A1_ENST00000535941.1_Silent_p.K556K NM_030820.3 NP_110447.2 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 556 Collagen-like 2. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2) 41 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) CAGCATTCCCCTTTTCACCTT 0.353000 6 10 0 0 1 0 0 SOBP 55084 broad.mit.edu 37 6 107955843 107955843 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr6:107955843C>T ENST00000317357.5 + 6 2454 c.1795C>T c.(1795-1797)Ccc>Tcc p.P599S NM_018013.3 NP_060483.3 A7XYQ1 SOBP_HUMAN sine oculis binding protein homolog (Drosophila) 599 metal ion binding endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 26 all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156) BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154) GGACTCGCCCCCCGGCTGCTC 0.791000 5 2 0 0 1 0 0 MYH3 4621 broad.mit.edu 37 17 10541359 10541359 + Splice_Site SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr17:10541359C>T ENST00000583535.1 - 27 3817 c.e27+1 MYH3_ENST00000226209.7_Splice_Site NM_002470.3 NP_002461.2 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, embryonic muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 83 CCGCGCAGCACCTTAGATTTC 0.547000 41 83 0 0 1 0 0 CSNK2A1 1457 broad.mit.edu 37 20 470440 470440 + Missense_Mutation SNP T T C rs61730060 TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr20:470440T>C ENST00000217244.3 - 10 1082 c.707A>G c.(706-708)cAt>cGt p.H236R CSNK2A1_ENST00000349736.5_Missense_Mutation_p.H236R|CSNK2A1_ENST00000460062.1_5'UTR|CSNK2A1_ENST00000400217.1_Missense_Mutation_p.H100R|CSNK2A1_ENST00000400227.3_Missense_Mutation_p.H236R NM_177559.2 NP_808227.1 P68400 CSK21_HUMAN casein kinase 2, alpha 1 polypeptide 236 Protein kinase. axon guidance|Wnt receptor signaling pathway cytosol|NuRD complex|plasma membrane|Sin3 complex ATP binding|protein N-terminus binding|protein serine/threonine kinase activity p.H236R(2) autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1) 17 Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.0969) ATAATTGTCATGTCCATGGAA 0.373000 3 51 0 0 1 0 0 SERPINA4 5267 broad.mit.edu 37 14 95030336 95030336 + Missense_Mutation SNP T T C TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr14:95030336T>C ENST00000557004.1 + 2 938 c.517T>C c.(517-519)Tac>Cac p.Y173H SERPINA4_ENST00000298841.5_Missense_Mutation_p.Y173H|SERPINA4_ENST00000555095.1_Missense_Mutation_p.Y173H|SERPINA5_ENST00000553780.1_Intron P29622 KAIN_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 173 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1) 46 COAD - Colon adenocarcinoma(157;0.211) CACCAACTTCTACGACACTGT 0.493000 65 107 0 0 1 0 0 MYO3B 140469 broad.mit.edu 37 2 171358320 171358320 + Silent SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr2:171358320G>A ENST00000334231.6 + 28 3342 c.3342G>A c.(3340-3342)agG>agA p.R1114R MYO3B_ENST00000409044.3_Intron|MYO3B_ENST00000602629.1_Intron|MYO3B_ENST00000408978.4_Silent_p.R1105R Q8WXR4 MYO3B_HUMAN myosin IIIB 1105 IQ 2. response to stimulus|visual perception cytoplasm|myosin complex actin binding|ATP binding|motor activity|protein serine/threonine kinase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 59 ATGCTCGGAGGAAATTTAAGA 0.348000 28 4 0 0 1 0 0 TAF3 83860 broad.mit.edu 37 10 8006790 8006790 + Silent SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr10:8006790C>T ENST00000344293.5 + 3 1523 c.1317C>T c.(1315-1317)tcC>tcT p.S439S NM_031923.3 NP_114129.1 Q5VWG9 TAF3_HUMAN TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa 439 maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription factor TFIID complex protein binding|zinc ion binding NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2) 40 CTTCCACTTCCGCGAACAATT 0.468000 37 76 0 0 1 0 0 STRIP2 57464 broad.mit.edu 37 7 129091563 129091563 + Silent SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr7:129091563C>T ENST00000249344.2 + 4 424 c.384C>T c.(382-384)gcC>gcT p.A128A STRIP2_ENST00000435494.2_Silent_p.A128A NM_020704.2 NP_065755.1 striatin interacting protein 2 TGAAGGTGGCCCGGGCTGTTC 0.557000 16 36 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13717491 13717491 + Missense_Mutation SNP T T G TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr5:13717491T>G ENST00000265104.4 - 73 12742 c.12638A>C c.(12637-12639)aAc>aCc p.N4213T NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4213 AAA 6 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) GTCCGCTTGGTTAAATTCGTA 0.532000 Kartagener syndrome 20 22 0 0 1 0 0 LINGO4 339398 broad.mit.edu 37 1 151774481 151774481 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr1:151774481C>T ENST00000368820.3 - 2 1637 c.700G>A c.(700-702)Gag>Aag p.E234K NM_001004432.2 NP_001004432.1 Q6UY18 LIGO4_HUMAN leucine rich repeat and Ig domain containing 4 234 integral to membrane breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 21 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) AGGTGGATCTCCAGCTCCTTG 0.637000 41 70 0 0 1 0 0 C20orf194 25943 broad.mit.edu 37 20 3274837 3274837 + Missense_Mutation SNP A A C TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr20:3274837A>C ENST00000252032.9 - 25 2253 c.2186T>G c.(2185-2187)gTg>gGg p.V729G C20orf194_ENST00000453730.2_Missense_Mutation_p.V467G NM_001009984.2 NP_001009984.1 Q5TEA3 CT194_HUMAN chromosome 20 open reading frame 194 729 NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1) 39 CTGCAGCAGCACAGGAAGATG 0.453000 19 33 0 0 1 0 0 DCSTAMP 81501 broad.mit.edu 37 8 105361507 105361507 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr8:105361507G>A ENST00000297581.2 + 2 776 c.727G>A c.(727-729)Gaa>Aaa p.E243K DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Missense_Mutation_p.E243K NM_030788.3 NP_110415.1 Q9H295 TM7S4_HUMAN dendrocyte expressed seven transmembrane protein 243 osteoclast differentiation cell surface|integral to membrane|plasma membrane TTGGAAGTATGAAAACATCTA 0.498000 45 56 0 0 1 0 0 BDP1 55814 broad.mit.edu 37 5 70845308 70845308 + Silent SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr5:70845308G>A ENST00000358731.4 + 34 7133 c.6870G>A c.(6868-6870)ctG>ctA p.L2290L BDP1_ENST00000380675.2_Intron NM_018429.2 NP_060899.2 A6H8Y1 BDP1_HUMAN B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB 2290 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) TTTTAACTCTGGTGGAAATCC 0.383000 19 10 0 0 1 0 0 ANKRD11 29123 broad.mit.edu 37 16 89348949 89348949 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr16:89348949G>A ENST00000301030.4 - 9 4461 c.4001C>T c.(4000-4002)cCg>cTg p.P1334L ANKRD11_ENST00000378330.2_Missense_Mutation_p.P1334L NM_001256183.1|NM_013275.5 NP_001243112.1|NP_037407.4 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 1334 Lys-rich. nucleus breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) GCTCTCCCTCGGCTTGTCGTC 0.612000 28 40 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124350191 124350191 + Silent SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr10:124350191C>T ENST00000338354.3 + 18 2224 c.2118C>T c.(2116-2118)tcC>tcT p.S706S DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000344338.3_Silent_p.S696S|DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000368955.3_Silent_p.S696S|DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000368909.3_Silent_p.S706S Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 706 epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) CTGCCCAGTCCCGGTCGACGC 0.517000 125 223 0 0 1 0 0 HOGA1 112817 broad.mit.edu 37 10 99359853 99359853 + Silent SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr10:99359853G>A ENST00000370646.4 + 5 994 c.633G>A c.(631-633)aaG>aaA p.K211K HOGA1_ENST00000370647.4_Intron|PI4K2A_ENST00000370649.3_Intron|PI4K2A_ENST00000555577.1_Intron NM_138413.3 NP_612422.2 4-hydroxy-2-oxoglutarate aldolase 1 breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|stomach(1) 14 TTGTTCACAAGACCAGGAAGC 0.557000 97 170 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228444456 228444456 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr1:228444456G>A ENST00000570156.2 + 16 4764 c.4690G>A c.(4690-4692)Gag>Aag p.E1564K OBSCN_ENST00000359599.6_Missense_Mutation_p.E36K|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.E1472K|OBSCN_ENST00000422127.1_Missense_Mutation_p.E1472K NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 545 Ig-like 16. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GGCCCAGACGGAGGTGATGTG 0.652000 45 57 0 0 1 0 0 SLC7A9 11136 broad.mit.edu 37 19 33324149 33324149 + Nonsense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr19:33324149C>T ENST00000023064.4 - 12 1496 c.1305G>A c.(1303-1305)tgG>tgA p.W435* SLC7A9_ENST00000587772.1_Nonsense_Mutation_p.W435*|SLC7A9_ENST00000590341.1_Nonsense_Mutation_p.W435* NM_001126335.1|NM_001243036.1|NM_014270.4 NP_001119807.1|NP_001229965.1|NP_055085.1 P82251 BAT1_HUMAN solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9 435 blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly integral to plasma membrane L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 32 Esophageal squamous(110;0.137) L-Cystine(DB00138) AGAGGTACTCCCAGGTGGGCT 0.453000 21 60 0 0 1 0 0 OR51T1 401665 broad.mit.edu 37 11 4903652 4903652 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr11:4903652G>A ENST00000380378.1 + 1 604 c.604G>A c.(604-606)Gag>Aag p.E202K OR51T1_ENST00000322049.1_Missense_Mutation_p.E175K|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001004759.1 NP_001004759.1 Q8NGJ9 O51T1_HUMAN olfactory receptor, family 51, subfamily T, member 1 175 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) TGGGGGTCACGAGCTTTCCCA 0.458000 60 80 0 0 1 0 0 CXorf22 170063 broad.mit.edu 37 X 35969446 35969446 + Silent SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chrX:35969446C>T ENST00000297866.5 + 5 921 c.855C>T c.(853-855)atC>atT p.I285I NM_152632.3 NP_689845.2 Q6ZTR5 CX022_HUMAN chromosome X open reading frame 22 285 breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3) 44 GGGTGGCCATCATACAAGATG 0.373000 20 2 0 0 1 0 0 KIF13A 63971 broad.mit.edu 37 6 17779315 17779315 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr6:17779315C>T ENST00000378814.5 - 32 3915 c.3916G>A c.(3916-3918)Gag>Aag p.E1306K KIF13A_ENST00000259711.6_Missense_Mutation_p.E1319K|KIF13A_ENST00000378843.2_Missense_Mutation_p.E1306K|KIF13A_ENST00000378816.5_Missense_Mutation_p.E1319K|KIF13A_ENST00000378826.2_Missense_Mutation_p.E1319K NM_001105568.2 NP_001099038.1 Q9H1H9 KI13A_HUMAN kinesin family member 13A 1319 cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane ATP binding|microtubule motor activity|protein binding breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) TCCCGGTCCTCTATCTCCTCA 0.488000 16 21 0 0 1 0 0 EXD1 161829 broad.mit.edu 37 15 41508898 41508898 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr15:41508898G>A ENST00000314992.5 - 3 372 c.182C>T c.(181-183)tCt>tTt p.S61F EXD1_ENST00000458580.2_Missense_Mutation_p.S119F NM_152596.2 NP_689809.2 Q8NHP7 EXD1_HUMAN exonuclease 3'-5' domain containing 1 61 3'-5' exonuclease. nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2) 16 ATTCAGCAGAGAGGTAGCTGG 0.453000 21 30 0 0 1 0 0 DDX60 55601 broad.mit.edu 37 4 169176903 169176903 + Silent SNP T T C TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr4:169176903T>C ENST00000393743.3 - 26 3807 c.3516A>G c.(3514-3516)aaA>aaG p.K1172K DDX60_ENST00000505393.1_5'UTR NM_017631.5 NP_060101.3 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 1172 ATP binding|ATP-dependent helicase activity|RNA binding breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4) 63 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) CTTTTCGAAGTTTGTTAGCCA 0.368000 8 16 0 0 1 0 0 ELOVL1 64834 broad.mit.edu 37 1 43830936 43830936 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr1:43830936C>T ENST00000372458.3 - 3 275 c.158G>A c.(157-159)cGg>cAg p.R53Q ELOVL1_ENST00000470769.1_5'UTR|ELOVL1_ENST00000413844.2_Missense_Mutation_p.R53Q NM_001256399.1|NM_001256402.1|NM_022821.3 NP_001243328.1|NP_001243331.1|NP_073732.1 Q9BW60 ELOV1_HUMAN ELOVL fatty acid elongase 1 53 fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|sphingolipid biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process integral to endoplasmic reticulum membrane fatty acid elongase activity|protein binding endometrium(1)|kidney(1)|large_intestine(1)|prostate(1) 4 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) GAAGGGCTTCCGATTAGCCAT 0.562000 12 19 0 0 1 0 0 OR4C15 81309 broad.mit.edu 37 11 55322161 55322161 + Missense_Mutation SNP T T C TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr11:55322161T>C ENST00000314644.2 + 1 379 c.379T>C c.(379-381)Tca>Cca p.S127P NM_001001920.1 NP_001001920.1 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, member 15 73 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5) 56 TGCGTGCTTCTCATCTGTCAT 0.458000 HNSCC(20;0.049) 9 164 0 0 1 0 0 SIX4 51804 broad.mit.edu 37 14 61190639 61190639 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr14:61190639G>A ENST00000216513.4 - 1 213 c.154C>T c.(154-156)Ccc>Tcc p.P52S NM_017420.4 NP_059116.3 Q9UIU6 SIX4_HUMAN SIX homeobox 4 52 Ala-rich. nucleus breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 OV - Ovarian serous cystadenocarcinoma(108;0.0275) GGCTCCAGGGGAAAAGGGGCT 0.746000 23 23 0 0 1 0 0 ALB 213 broad.mit.edu 37 4 74270081 74270081 + Missense_Mutation SNP T T A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr4:74270081T>A ENST00000295897.4 + 1 126 c.37T>A c.(37-39)Ttt>Att p.F13I ALB_ENST00000503124.1_5'UTR|ALB_ENST00000509063.1_Missense_Mutation_p.F13I|ALB_ENST00000415165.2_Missense_Mutation_p.F13I|ALB_ENST00000401494.3_Missense_Mutation_p.F13I NM_000477.5 NP_000468.1 P02768 ALBU_HUMAN albumin 13 bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport extracellular space|platelet alpha granule lumen|protein complex antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1) 48 Breast(15;0.00102) Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137) TCTTTTTCTCTTTAGCTCGGC 0.403000 16 36 0 0 1 0 0 AHCYL2 23382 broad.mit.edu 37 7 129028959 129028959 + Missense_Mutation SNP T T A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr7:129028959T>A ENST00000325006.3 + 3 592 c.538T>A c.(538-540)Tct>Act p.S180T AHCYL2_ENST00000472554.1_3'UTR|AHCYL2_ENST00000446544.2_Missense_Mutation_p.S179T|AHCYL2_ENST00000474594.1_Missense_Mutation_p.S77T|AHCYL2_ENST00000531335.2_Missense_Mutation_p.S99T|AHCYL2_ENST00000446212.1_Missense_Mutation_p.S78T|AHCYL2_ENST00000490911.1_Missense_Mutation_p.S77T NM_001130720.2|NM_015328.3 NP_001124192.1|NP_056143.1 Q96HN2 SAHH3_HUMAN adenosylhomocysteinase-like 2 180 one-carbon metabolic process adenosylhomocysteinase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 22 GCAAAAGAACTCTAAGGGAAG 0.403000 23 44 0 0 1 0 0 CCM2 83605 broad.mit.edu 37 7 45108124 45108124 + Missense_Mutation SNP T T G TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr7:45108124T>G ENST00000475551.1 + 5 1297 c.537T>G c.(535-537)agT>agG p.S179R CCM2_ENST00000461377.1_3'UTR|CCM2_ENST00000381112.3_Missense_Mutation_p.S206R|CCM2_ENST00000474617.1_Intron|CCM2_ENST00000541586.1_Missense_Mutation_p.S127R|CCM2_ENST00000544363.1_Intron|CCM2_ENST00000258781.6_Missense_Mutation_p.S185R Q9BSQ5 CCM2_HUMAN cerebral cavernous malformation 2 185 PID. endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis cytoplasm protein binding NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 TGTCGGAGAGTGCAGTTGGGC 0.607000 28 45 0 0 1 0 0 CASZ1 54897 broad.mit.edu 37 1 10720283 10720283 + Silent SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr1:10720283G>A ENST00000377022.3 - 6 1133 c.816C>T c.(814-816)acC>acT p.T272T CASZ1_ENST00000344008.5_Silent_p.T272T NM_001079843.1 NP_001073312.1 Q86V15 CASZ1_HUMAN castor zinc finger 1 272 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1) 54 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) GGCCGGGCAGGGTGCCCACCA 0.687000 29 42 0 0 1 0 0 PIAS1 8554 broad.mit.edu 37 15 68446018 68446018 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr15:68446018C>T ENST00000545237.1 + 8 1666 c.925C>T c.(925-927)Cat>Tat p.H309Y PIAS1_ENST00000249636.6_Missense_Mutation_p.H307Y O75925 PIAS1_HUMAN protein inhibitor of activated STAT, 1 307 androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent nuclear speck androgen receptor binding|DNA binding|enzyme binding|SUMO ligase activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1) 24 GAATCCGGATCATTCTAGAGC 0.328000 12 15 0 0 1 0 0 NCOA7 135112 broad.mit.edu 37 6 126199464 126199464 + Missense_Mutation SNP A A G TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr6:126199464A>G ENST00000368357.3 + 6 759 c.407A>G c.(406-408)aAt>aGt p.N136S NCOA7_ENST00000392477.2_Missense_Mutation_p.N136S|NCOA7_ENST00000229634.9_Missense_Mutation_p.N32S NM_001199619.1|NM_001199620.1 NP_001186548.1|NP_001186549.1 Q8NI08 NCOA7_HUMAN nuclear receptor coactivator 7 136 cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2) 39 UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237) ATCACTCCCAATAAATTGGTG 0.338000 15 8 0 0 1 0 0 FAM114A2 10827 broad.mit.edu 37 5 153406841 153406841 + Silent SNP G G T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr5:153406841G>T ENST00000351797.4 - 7 760 c.684C>A c.(682-684)acC>acA p.T228T FAM114A2_ENST00000522858.1_Silent_p.T228T|FAM114A2_ENST00000520313.1_Silent_p.T158T|FAM114A2_ENST00000520667.1_Silent_p.T228T NM_018691.2 NP_061161.2 Q9NRY5 F1142_HUMAN family with sequence similarity 114, member A2 228 purine nucleotide binding NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)|urinary_tract(1) 18 CTGTTTCCACGGTAACCTCAT 0.423000 18 6 3.32936e-07 3.36221e-07 1 1 0 ZNF700 90592 broad.mit.edu 37 19 12060313 12060313 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr19:12060313C>T ENST00000482090.1 + 3 1838 c.1420C>T c.(1420-1422)Cat>Tat p.H474Y ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000590798.1_Intron|ZNF700_ENST00000254321.5_Missense_Mutation_p.H492Y|CTD-2006C1.12_ENST00000586394.1_RNA Q9H0M5 ZN700_HUMAN zinc finger protein 700 492 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ZNF700/MAST1_ENST00000251472(2) breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1) 33 CCTTCAAATTCATGAAAGGAC 0.398000 27 48 0 0 1 0 0 SLC22A9 114571 broad.mit.edu 37 11 63137759 63137759 + Silent SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr11:63137759C>T ENST00000279178.3 + 1 480 c.231C>T c.(229-231)atC>atT p.I77I SLC22A9_ENST00000310969.4_Silent_p.I77I NM_080866.2 NP_543142.2 Q8IVM8 S22A9_HUMAN solute carrier family 22 (organic anion transporter), member 9 77 transmembrane transport integral to membrane breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 18 GAATCTCCATCCCACTGGACT 0.542000 36 65 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124332540 124332540 + Silent SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr12:124332540C>T ENST00000409039.3 + 32 5518 c.5493C>T c.(5491-5493)gcC>gcT p.A1831A NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 1831 AAA 1 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) GGGCCCCCGCCGGCCCAGCAG 0.532000 52 117 0 0 1 0 0 GRIK3 2899 broad.mit.edu 37 1 37356552 37356552 + Silent SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr1:37356552G>A ENST00000373091.3 - 2 277 c.261C>T c.(259-261)caC>caT p.H87H GRIK3_ENST00000373093.4_Silent_p.H87H NM_000831.3 NP_000822.2 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 87 negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 89 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) TGTCATGGAAGTGAATCCTCT 0.532000 51 88 0 0 1 0 0 CACNA1D 776 broad.mit.edu 37 3 53804506 53804506 + Missense_Mutation SNP T T G TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr3:53804506T>G ENST00000288139.3 + 33 4149 c.4031T>G c.(4030-4032)aTg>aGg p.M1344R CACNA1D_ENST00000540742.1_Missense_Mutation_p.M216R|CACNA1D_ENST00000350061.5_Missense_Mutation_p.M1324R|CACNA1D_ENST00000422281.2_Missense_Mutation_p.M1309R NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit 1324 axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) TTCCGAGTGATGCGATTGGTG 0.468000 6 57 0 0 1 0 0 SLC6A11 6538 broad.mit.edu 37 3 10916678 10916678 + Silent SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr3:10916678C>T ENST00000254488.2 + 6 855 c.789C>T c.(787-789)atC>atT p.I263I NM_014229.1 NP_055044.1 P48066 S6A11_HUMAN solute carrier family 6 (neurotransmitter transporter), member 11 263 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4) 35 OV - Ovarian serous cystadenocarcinoma(96;0.229) TCCCCTACATCATGCTGCTGA 0.562000 29 159 0 0 1 0 0 PM20D1 148811 broad.mit.edu 37 1 205819153 205819153 + Silent SNP G G T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr1:205819153G>T ENST00000367136.4 - 1 92 c.48C>A c.(46-48)ctC>ctA p.L16L PM20D1_ENST00000460624.1_5'UTR NM_152491.4 NP_689704.4 Q6GTS8 P20D1_HUMAN peptidase M20 domain containing 1 16 extracellular region metal ion binding|peptidase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1) 28 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0252) GGAAAACTAGGAGCAGCATAG 0.602000 18 37 1.01871e-10 1.03558e-10 1 1 0 THAP6 152815 broad.mit.edu 37 4 76442155 76442155 + Missense_Mutation SNP T T C TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr4:76442155T>C ENST00000311638.3 + 3 322 c.254T>C c.(253-255)aTa>aCa p.I85T THAP6_ENST00000508105.1_Missense_Mutation_p.I44T|THAP6_ENST00000380837.3_Missense_Mutation_p.I85T|THAP6_ENST00000507556.1_Missense_Mutation_p.I85T|THAP6_ENST00000507885.1_Missense_Mutation_p.I44T|THAP6_ENST00000502620.1_Missense_Mutation_p.I44T|THAP6_ENST00000514480.1_Missense_Mutation_p.I85T|THAP6_ENST00000504190.1_Missense_Mutation_p.I44T|THAP6_ENST00000507557.1_Missense_Mutation_p.I44T NM_144721.4 NP_653322.1 Q8TBB0 THAP6_HUMAN THAP domain containing 6 85 microtubule cytoskeleton DNA binding|metal ion binding lung(5) 5 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) CCTGGAGTCATACCTTCTATC 0.343000 13 31 0 0 1 0 0 PRKCB 5579 broad.mit.edu 37 16 24166132 24166132 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr16:24166132G>A ENST00000303531.7 + 10 1345 c.1193G>A c.(1192-1194)gGg>gAg p.G398E PRKCB_ENST00000321728.7_Missense_Mutation_p.G398E NM_002738.6 NP_002729.2 P05771 KPCB_HUMAN protein kinase C, beta 398 Protein kinase. apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3) 9 Vitamin E(DB00163) GCCCTGCCTGGGAAGCCGCCC 0.567000 9 26 0 0 1 0 0 PLCB4 5332 broad.mit.edu 37 20 9400534 9400534 + Missense_Mutation SNP T T A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr20:9400534T>A ENST00000378501.2 + 22 2111 c.2096T>A c.(2095-2097)aTt>aAt p.I699N PLCB4_ENST00000334005.3_Missense_Mutation_p.I699N|PLCB4_ENST00000278655.4_Missense_Mutation_p.I699N|PLCB4_ENST00000378493.1_Missense_Mutation_p.I699N|PLCB4_ENST00000378473.3_Missense_Mutation_p.I711N|PLCB4_ENST00000414679.2_Missense_Mutation_p.I711N|PLCB4_ENST00000492632.1_3'UTR NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 699 C2. intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 GATGGTGTTATTGCAGCCACT 0.428000 44 73 0 0 1 0 0 HAPLN4 404037 broad.mit.edu 37 19 19369576 19369576 + Silent SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr19:19369576G>A ENST00000291481.7 - 4 636 c.573C>T c.(571-573)atC>atT p.I191I AC138430.4_ENST00000586064.2_RNA NM_023002.2 NP_075378.1 Q86UW8 HPLN4_HUMAN hyaluronan and proteoglycan link protein 4 191 Link 1. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1) 16 Epithelial(12;0.00575) CAGATGCCAGGATGCCGTCCT 0.701000 9 17 0 0 1 0 0 PIK3R5 23533 broad.mit.edu 37 17 8794121 8794121 + Silent SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr17:8794121G>A ENST00000447110.1 - 7 715 c.591C>T c.(589-591)ctC>ctT p.L197L PIK3R5_ENST00000581552.1_Silent_p.L197L|PIK3R5_ENST00000584803.1_Silent_p.L197L NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1 NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1 Q8WYR1 PI3R5_HUMAN phosphoinositide-3-kinase, regulatory subunit 5 197 platelet activation cytosol|membrane|nucleus breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1) 34 AGGCGTGCAGGAGCAGGGTGG 0.632000 14 11 0 0 1 0 0 OTOGL 283310 broad.mit.edu 37 12 80762069 80762069 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr12:80762069G>A ENST00000458043.2 + 54 6574 c.6568G>A c.(6568-6570)Gga>Aga p.G2190R OTOGL_ENST00000547103.1_Missense_Mutation_p.G2178R|OTOGL_ENST00000546620.1_Missense_Mutation_p.G209R NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 CATGGAAAATGGAACATCAGT 0.403000 4 11 0 0 1 0 0 ABCC8 6833 broad.mit.edu 37 11 17482118 17482118 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr11:17482118C>T ENST00000302539.4 - 6 1053 c.928G>A c.(928-930)Gac>Aac p.D310N ABCC8_ENST00000389817.3_Missense_Mutation_p.D310N NM_000352.3 NP_000343.2 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 8 310 ABC transmembrane type-1 1. D -> N (in HHF1). carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) CCCAGCAGGTCGGCCAAGATG 0.647000 60 74 0 0 1 0 0 ARID2 196528 broad.mit.edu 37 12 46244258 46244258 + Silent SNP T T A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr12:46244258T>A ENST00000334344.6 + 15 2524 c.2352T>A c.(2350-2352)ccT>ccA p.P784P ARID2_ENST00000422737.1_Silent_p.P635P|ARID2_ENST00000444670.1_Silent_p.P394P|ARID2_ENST00000479608.1_3'UTR NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 784 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) GACAGATCCCTTCAGGCACTC 0.448000 """N, S, F""" hepatocellular carcinoma 22 24 0 0 1 0 0 HEATR5B 54497 broad.mit.edu 37 2 37284566 37284566 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr2:37284566G>A ENST00000233099.5 - 15 2212 c.2117C>T c.(2116-2118)tCa>tTa p.S706L HEATR5B_ENST00000354531.2_Missense_Mutation_p.S706L NM_019024.1 NP_061897.1 Q9P2D3 HTR5B_HUMAN HEAT repeat containing 5B 706 binding breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 77 all_hematologic(82;0.21) TGTGTTGGCTGAGTTGTCAGT 0.363000 32 5 0 0 1 0 0 GLRA3 8001 broad.mit.edu 37 4 175565068 175565068 + Missense_Mutation SNP T T A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr4:175565068T>A ENST00000274093.3 - 10 1766 c.1264A>T c.(1264-1266)Atc>Ttc p.I422F GLRA3_ENST00000340217.5_Missense_Mutation_p.I407F NM_006529.2 NP_006520.2 O75311 GLRA3_HUMAN glycine receptor, alpha 3 422 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 35 Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107) all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421) Glycine(DB00145) GCCCGGTCGATAAAGACCTTC 0.438000 23 65 0 0 1 0 0 CLEC14A 161198 broad.mit.edu 37 14 38724358 38724358 + Silent SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr14:38724358C>T ENST00000342213.2 - 1 1216 c.870G>A c.(868-870)ggG>ggA p.G290G NM_175060.2 NP_778230.1 Q86T13 CLC14_HUMAN C-type lectin domain family 14, member A 290 integral to membrane sugar binding breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00439) GCTGTCCTTCCCCACTGGTCA 0.667000 62 70 0 0 1 0 0 SUMO2 6613 broad.mit.edu 37 17 73164461 73164461 + Silent SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr17:73164461G>A ENST00000420826.2 - 4 409 c.261C>T c.(259-261)ttC>ttT p.F87F SUMO2_ENST00000578238.1_Silent_p.F44F|SUMO2_ENST00000314523.7_Silent_p.F63F NM_006937.3 NP_008868.3 P61956 SUMO2_HUMAN small ubiquitin-like modifier 2 87 Ubiquitin-like. positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation nucleus ubiquitin protein ligase binding NS(1) 1 all_lung(278;0.14)|Lung NSC(278;0.168) TCTGCTGTTGGAACACATCAA 0.353000 7 9 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11058201 11058201 + RNA SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr21:11058201G>A ENST00000470054.1 - 0 446 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) GACAAAGCAGGAAGATGTGAC 0.398000 9 40 0 0 1 0 0 CDYL2 124359 broad.mit.edu 37 16 80718758 80718758 + Missense_Mutation SNP T T C TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr16:80718758T>C ENST00000299564.8 - 2 448 c.293A>G c.(292-294)aAg>aGg p.K98R CDYL2_ENST00000566173.1_Missense_Mutation_p.K98R|CDYL2_ENST00000562753.1_5'UTR|CDYL2_ENST00000563890.1_Missense_Mutation_p.K98R|CDYL2_ENST00000562812.1_Missense_Mutation_p.K98R NM_152342.2 NP_689555.2 Q8N8U2 CDYL2_HUMAN chromodomain protein, Y-like 2 98 nucleus catalytic activity|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1) 21 CCCCTTGCTCTTTCCAGGATC 0.557000 26 28 0 0 1 0 0 HECW2 57520 broad.mit.edu 37 2 197183898 197183898 + Silent SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr2:197183898C>T ENST00000260983.2 - 9 1898 c.1716G>A c.(1714-1716)gaG>gaA p.E572E HECW2_ENST00000409111.1_Silent_p.E216E NM_020760.1 NP_065811.1 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 572 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity 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 GCTGATCTACCTCTTGAGAGC 0.612000 47 14 0 0 1 0 0 MAP1B 4131 broad.mit.edu 37 5 71500909 71500909 + Splice_Site SNP A A G TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr5:71500909A>G ENST00000296755.7 + 7 7549 c.e7-1 NM_005909.3 NP_005900.2 P46821 MAP1B_HUMAN microtubule-associated protein 1B microtubule|microtubule associated complex structural molecule activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 104 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) CTCTCCCTGCAGGTGACACTG 0.408000 26 20 0 0 1 0 0 GTF3C1 2975 broad.mit.edu 37 16 27561133 27561133 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr16:27561133G>A ENST00000356183.4 - 1 94 c.79C>T c.(79-81)Cgg>Tgg p.R27W GTF3C1_ENST00000561623.1_Missense_Mutation_p.R27W NM_001520.3 NP_001511.2 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1, alpha 220kDa 27 transcription factor TFIIIC complex DNA binding|protein binding breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 80 GTCTCCAGCCGGCTCCACAGC 0.667000 26 42 0 0 1 0 0 FKTN 2218 broad.mit.edu 37 9 108377612 108377612 + Silent SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr9:108377612G>A ENST00000223528.2 + 7 958 c.834G>A c.(832-834)aaG>aaA p.K278K FKTN_ENST00000357998.5_Silent_p.K278K|FKTN_ENST00000602661.1_Silent_p.K278K|FKTN_ENST00000448551.2_Silent_p.K278K|FKTN_ENST00000540160.1_Intron NM_006731.2 NP_006722.2 O75072 FKTN_HUMAN fukutin 278 muscle organ development|negative regulation of cell proliferation|negative regulation of JNK cascade|nervous system development|regulation of protein glycosylation cis-Golgi network|endoplasmic reticulum|extracellular space|Golgi membrane|integral to membrane|nucleus transferase activity breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 25 AGAGTGCAAAGGAATTACTGC 0.393000 30 25 0 0 1 0 0 SLITRK3 22865 broad.mit.edu 37 3 164905723 164905723 + Missense_Mutation SNP A A G TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr3:164905723A>G ENST00000475390.1 - 2 3339 c.2896T>C c.(2896-2898)Tac>Cac p.Y966H SLITRK3_ENST00000241274.3_Missense_Mutation_p.Y966H O94933 SLIK3_HUMAN SLIT and NTRK-like family, member 3 966 integral to membrane NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5) 119 ACTTCGAGGTAATCCGGCTTG 0.388000 HNSCC(40;0.11) 67 85 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196741275 196741275 + Missense_Mutation SNP T T C TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr2:196741275T>C ENST00000312428.6 - 37 6210 c.6110A>G c.(6109-6111)aAg>aGg p.K2037R NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2037 AAA 3 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 TACCATTCTCTTGCCCAAAGG 0.408000 61 15 0 0 1 0 0 SLC8A3 6547 broad.mit.edu 37 14 70634255 70634255 + Missense_Mutation SNP A A C TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr14:70634255A>C ENST00000381269.2 - 2 1638 c.885T>G c.(883-885)caT>caG p.H295Q SLC8A3_ENST00000356921.2_Missense_Mutation_p.H295Q|SLC8A3_ENST00000357887.3_Missense_Mutation_p.H295Q|SLC8A3_ENST00000528359.1_Missense_Mutation_p.H295Q|SLC8A3_ENST00000534137.1_Missense_Mutation_p.H295Q NM_058240.2|NM_183002.1 NP_489479.1|NP_892114.1 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 3 295 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) CATCTAGAAAATGGGAATTCA 0.483000 27 30 0 0 1 0 0 MCTP2 55784 broad.mit.edu 37 15 94882546 94882546 + Missense_Mutation SNP A A G TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr15:94882546A>G ENST00000357742.4 + 4 665 c.665A>G c.(664-666)aAg>aGg p.K222R MCTP2_ENST00000451018.3_Missense_Mutation_p.K222R|MCTP2_ENST00000331706.4_5'UTR|MCTP2_ENST00000543482.1_Missense_Mutation_p.K222R NM_018349.3 NP_060819.3 Q6DN12 MCTP2_HUMAN multiple C2 domains, transmembrane 2 222 C2 1. calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2) 49 Lung NSC(78;0.0821)|all_lung(78;0.148) BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593) GTGAAATTTAAGCTGAATGGG 0.333000 31 57 0 0 1 0 0 NFAT5 10725 broad.mit.edu 37 16 69689637 69689637 + Missense_Mutation SNP A A T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr16:69689637A>T ENST00000349945.1 + 7 2401 c.849A>T c.(847-849)gaA>gaT p.E283D NFAT5_ENST00000567239.1_Missense_Mutation_p.E377D|NFAT5_ENST00000432919.1_Missense_Mutation_p.E377D|NFAT5_ENST00000354436.2_Missense_Mutation_p.E359D|NFAT5_ENST00000566899.1_Missense_Mutation_p.E283D|NFAT5_ENST00000393742.2_Missense_Mutation_p.E283D NM_138714.3 NP_619728.2 O94916 NFAT5_HUMAN nuclear factor of activated T-cells 5, tonicity-responsive 359 RHD. excretion|signal transduction|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 CTTGCAAAGAAGTGGACATTG 0.418000 32 57 0 0 1 0 0 HSF1 3297 broad.mit.edu 37 8 145535651 145535651 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr8:145535651C>T ENST00000528838.1 + 9 1023 c.863C>T c.(862-864)cCc>cTc p.P288L HSF1_ENST00000400780.4_Missense_Mutation_p.P223L NM_005526.2 NP_005517.1 Q00613 HSF1_HUMAN heat shock transcription factor 1 288 Regulatory domain. cytoplasm protein binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2) 11 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055) GTGTGCAGGCCCCTATCCAGC 0.721000 8 12 0 0 1 0 0 RALGPS2 55103 broad.mit.edu 37 1 178745903 178745903 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr1:178745903G>A ENST00000367635.3 + 2 342 c.4G>A c.(4-6)Gac>Aac p.D2N RALGPS2_ENST00000324778.4_Missense_Mutation_p.D2N|RALGPS2_ENST00000367634.2_Missense_Mutation_p.D2N NM_152663.3 NP_689876.2 Q86X27 RGPS2_HUMAN Ral GEF with PH domain and SH3 binding motif 2 2 small GTPase mediated signal transduction cytoplasm|plasma membrane guanyl-nucleotide exchange factor activity|protein binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 GGAAAGCATGGACCTAATGAA 0.423000 7 18 0 0 1 0 0 SLC30A10 55532 broad.mit.edu 37 1 220100431 220100431 + Silent SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr1:220100431G>A ENST00000366926.3 - 2 818 c.657C>T c.(655-657)acC>acT p.T219T SLC30A10_ENST00000536446.1_5'UTR NM_018713.2 NP_061183.2 Q6XR72 ZNT10_HUMAN solute carrier family 30, member 10 219 zinc ion transport integral to membrane|plasma membrane cation transmembrane transporter activity NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1) 13 GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209) GCTCATTCTGGGTGTTGAAGG 0.353000 10 23 0 0 1 0 0 ZNF41 7592 broad.mit.edu 37 X 47307745 47307745 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chrX:47307745G>A ENST00000377065.4 - 5 2063 c.1424C>T c.(1423-1425)tCc>tTc p.S475F ZNF41_ENST00000313116.7_Missense_Mutation_p.S475F|ZNF41_ENST00000397050.2_Missense_Mutation_p.S485F NM_153380.2 NP_700359.1 P51814 ZNF41_HUMAN zinc finger protein 41 517 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2) 24 all_lung(315;0.000129) CTTAGTGAAGGATTTCCCACA 0.433000 19 7 0 0 1 0 0 CNTN4 152330 broad.mit.edu 37 3 2967440 2967440 + Silent SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr3:2967440G>A ENST00000397461.1 + 12 1719 c.1335G>A c.(1333-1335)agG>agA p.R445R CNTN4_ENST00000397459.2_Silent_p.R117R|CNTN4_ENST00000448906.2_Silent_p.R117R|CNTN4_ENST00000475817.1_3'UTR|CNTN4_ENST00000358480.3_Silent_p.R226R|CNTN4_ENST00000427331.1_Silent_p.R445R|CNTN4_ENST00000418658.1_Silent_p.R445R NM_001206955.1 NP_001193884.1 Q8IWV2 CNTN4_HUMAN contactin 4 445 Ig-like C2-type 5. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) AGAAAGGAAGGGATATATTAA 0.343000 35 17 0 0 1 0 0 FER1L6 654463 broad.mit.edu 37 8 124988246 124988246 + Silent SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr8:124988246G>A ENST00000522917.1 + 9 998 c.792G>A c.(790-792)gcG>gcA p.A264A FER1L6_ENST00000399018.1_Silent_p.A264A NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 264 C2 2. integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) GCATCATGGCGAACGTCACCA 0.507000 90 133 0 0 1 0 0 ARHGEF4 50649 broad.mit.edu 37 2 131704214 131704214 + Silent SNP T T C TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr2:131704214T>C ENST00000409359.1 + 4 4199 c.3001T>C c.(3001-3003)Tta>Cta p.L1001L ARHGEF4_ENST00000392953.3_Intron|ARHGEF4_ENST00000525839.1_Intron|ARHGEF4_ENST00000326016.5_Intron|ARHGEF4_ENST00000409303.1_Intron|ARHGEF4_ENST00000428230.2_Intron Q9NR80 ARHG4_HUMAN Rho guanine nucleotide exchange factor (GEF) 4 0 apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|ruffle membrane protein domain specific binding|Rac guanyl-nucleotide exchange factor activity NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4) 29 Prostate(154;0.055) BRCA - Breast invasive adenocarcinoma(221;0.097) CACTGGTGAGTTACGCGCCTC 0.532000 63 15 0 0 1 0 0 NAP1L3 4675 broad.mit.edu 37 X 92926850 92926850 + Missense_Mutation SNP G G T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chrX:92926850G>T ENST00000373079.3 - 1 1717 c.1454C>A c.(1453-1455)aCt>aAt p.T485N NAP1L3_ENST00000475430.1_5'UTR NM_004538.5 NP_004529.2 Q99457 NP1L3_HUMAN nucleosome assembly protein 1-like 3 485 nucleosome assembly chromatin assembly complex haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 34 GACTTCTCCAGTATAGTAATA 0.343000 12 3 2.27111e-07 2.2973e-07 1 1 0 RAG1 5896 broad.mit.edu 37 11 36596233 36596233 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr11:36596233G>A ENST00000299440.5 + 2 1491 c.1379G>A c.(1378-1380)gGa>gAa p.G460E NM_000448.2 NP_000439.1 P15918 RAG1_HUMAN recombination activating gene 1 460 histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 65 all_lung(20;0.226) all_hematologic(20;0.107) ATCATGCAGGGAAAGGGCTCT 0.567000 Familial Hemophagocytic Lymphohistiocytosis 25 44 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21258488 21258488 + Silent SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr2:21258488C>T ENST00000233242.1 - 7 913 c.786G>A c.(784-786)aaG>aaA p.K262K APOB_ENST00000399256.4_Silent_p.K262K NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 262 Heparin-binding.|Vitellogenin. cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GGTGTTGCTCCTTGCAGATGG 0.498000 38 11 0 0 1 0 0 CHRM2 1129 broad.mit.edu 37 7 136699916 136699916 + Missense_Mutation SNP C C G TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr7:136699916C>G ENST00000445907.2 + 3 832 c.304C>G c.(304-306)Ctg>Gtg p.L102V CHRM2_ENST00000402486.3_Missense_Mutation_p.L102V|AC009264.1_ENST00000425981.2_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.L102V|AC009264.1_ENST00000598184.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.L102V|AC009264.1_ENST00000439694.1_RNA|AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000593789.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.L102V|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.L102V NM_001006627.1|NM_001006629.1 NP_001006628.1|NP_001006630.1 P08172 ACM2_HUMAN cholinergic receptor, muscarinic 2 102 activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 68 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) TTGGCTAGCCCTGGACTATGT 0.478000 60 122 0 0 1 0 0 HOOK2 29911 broad.mit.edu 37 19 12881844 12881844 + Silent SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr19:12881844C>T ENST00000264827.5 - 10 974 c.804G>A c.(802-804)gaG>gaA p.E268E HOOK2_ENST00000397668.3_Silent_p.E268E|HOOK2_ENST00000589965.1_Intron NM_001100176.1 NP_001093646.1 Q96ED9 HOOK2_HUMAN hook microtubule-tethering protein 2 268 Sufficient for interaction with microtubules. early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport centrosome|FHF complex|microtubule identical protein binding|microtubule binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1) 20 CCCTCTCCAGCTCGGCACAGC 0.667000 9 19 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 21147748 21147748 + Silent SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr16:21147748C>T ENST00000261383.3 - 6 782 c.783G>A c.(781-783)ctG>ctA p.L261L DNAH3_ENST00000415178.1_Silent_p.L261L NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 261 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) TGTTAGAAATCAGCTTTGAAA 0.463000 49 103 0 0 1 0 0 NAALAD2 10003 broad.mit.edu 37 11 89868803 89868803 + Silent SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr11:89868803C>T ENST00000534061.1 + 2 389 c.159C>T c.(157-159)tcC>tcT p.S53S NAALAD2_ENST00000525171.1_Silent_p.S53S|NAALAD2_ENST00000375944.3_Silent_p.S53S|NAALAD2_ENST00000321955.4_Silent_p.S53S NM_005467.3 NP_005458.1 Q9Y3Q0 NALD2_HUMAN N-acetylated alpha-linked acidic dipeptidase 2 53 proteolysis integral to membrane carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2) 59 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) AACTGGTATCCGAAATGAAAG 0.328000 20 37 0 0 1 0 0 THBS4 7060 broad.mit.edu 37 5 79355629 79355629 + Silent SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr5:79355629C>T ENST00000350881.2 + 7 1078 c.888C>T c.(886-888)ttC>ttT p.F296F THBS4_ENST00000511733.1_Silent_p.F205F|CTD-2201I18.1_ENST00000503007.1_RNA NM_003248.4 NP_003239.2 P35443 TSP4_HUMAN thrombospondin 4 296 EGF-like 1. endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation basement membrane|extracellular space calcium ion binding|heparin binding|integrin binding|structural molecule activity breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3) 34 Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34) ACCCATGTTTCCGAGGTGTCC 0.602000 111 49 0 0 1 0 0 DISP1 84976 broad.mit.edu 37 1 223176194 223176194 + Silent SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr1:223176194C>T ENST00000284476.6 + 8 1619 c.1455C>T c.(1453-1455)acC>acT p.T485T NM_032890.3 NP_116279.2 Q96F81 DISP1_HUMAN dispatched homolog 1 (Drosophila) 485 diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5) 69 GBM - Glioblastoma multiforme(131;0.102) CTACCATCACCGGGATTGAGT 0.423000 37 46 0 0 1 0 0 STAB2 55576 broad.mit.edu 37 12 104106188 104106188 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr12:104106188G>A ENST00000388887.2 + 41 4582 c.4378G>A c.(4378-4380)Gca>Aca p.A1460T NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 1460 EGF-like 11. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 CAAGTGTGCAGCAGGATTCCA 0.517000 25 54 0 0 1 0 0 FBXO18 84893 broad.mit.edu 37 10 5950915 5950915 + Nonsense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr10:5950915C>T ENST00000379999.5 + 5 1038 c.934C>T c.(934-936)Cga>Tga p.R312* FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000362091.4_Nonsense_Mutation_p.R261*|FBXO18_ENST00000470089.1_3'UTR|FBXO18_ENST00000379994.1_5'UTR NM_032807.4 NP_116196.3 Q8NFZ0 FBX18_HUMAN F-box protein, helicase, 18 261 DNA repair nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1) 40 GCTGTACCATCGATACCTGAT 0.443000 44 61 0 0 1 0 0 TLL1 7092 broad.mit.edu 37 4 166986974 166986974 + Missense_Mutation SNP A A G TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr4:166986974A>G ENST00000061240.2 + 16 2794 c.2147A>G c.(2146-2148)aAt>aGt p.N716S TLL1_ENST00000507499.1_Missense_Mutation_p.N739S NM_012464.4 NP_036596.3 O43897 TLL1_HUMAN tolloid-like 1 716 CUB 3. cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) AAATCTGACAATACTGTATCC 0.378000 29 29 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9083313 9083313 + Silent SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr19:9083313C>T ENST00000397910.4 - 1 8705 c.8502G>A c.(8500-8502)acG>acA p.T2834T NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 2834 Ser-rich.|Thr-rich. T -> M (in dbSNP:rs10407623). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding 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 TCAGTCTGTTCGTGGTGATTT 0.507000 10 22 0 0 1 0 0 GRM6 2916 broad.mit.edu 37 5 178418504 178418504 + Missense_Mutation SNP A A G TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr5:178418504A>G ENST00000231188.5 - 3 956 c.778T>C c.(778-780)Ttc>Ctc p.F260L GRM6_ENST00000517717.1_Missense_Mutation_p.F260L NM_000843.3 NP_000834.2 O15303 GRM6_HUMAN glutamate receptor, metabotropic 6 260 detection of visible light|visual perception integral to plasma membrane NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 55 all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.245) ACCTTGCTGAACTCTCCTGGC 0.582000 94 54 0 0 1 0 0 RNF40 9810 broad.mit.edu 37 16 30779946 30779946 + Silent SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr16:30779946C>T ENST00000324685.6 + 14 2421 c.1986C>T c.(1984-1986)gcC>gcT p.A662A RNF40_ENST00000563683.1_Silent_p.A622A|RNF40_ENST00000357890.5_Silent_p.A562A|RNF40_ENST00000402121.3_Silent_p.A354A NM_001207033.1|NM_014771.3 NP_001193962.1|NP_055586.1 O75150 BRE1B_HUMAN ring finger protein 40, E3 ubiquitin protein ligase 662 histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process nucleus|synaptosome|ubiquitin ligase complex protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2) 30 Colorectal(24;0.198) CCAGGAAGGCCCAGGAGAGCC 0.577000 25 42 0 0 1 0 0 JMJD6 23210 broad.mit.edu 37 17 74719898 74719898 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr17:74719898G>A ENST00000445478.2 - 3 964 c.761C>T c.(760-762)cCc>cTc p.P254L JMJD6_ENST00000585429.1_Missense_Mutation_p.P254L|JMJD6_ENST00000397625.4_Missense_Mutation_p.P254L NM_001081461.1 NP_001074930.1 Q6NYC1 JMJD6_HUMAN jumonji domain containing 6 254 JmjC. mRNA processing|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine|regulation of nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|sprouting angiogenesis|transcription, DNA-dependent nucleolus|nucleoplasm histone demethylase activity (H3-R2 specific)|histone demethylase activity (H4-R3 specific)|identical protein binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-lysine 5-dioxygenase activity|single-stranded RNA binding endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2) 16 GATTTCCAGGGGTTTGAATTC 0.483000 26 62 0 0 1 0 0 ZNF382 84911 broad.mit.edu 37 19 37117340 37117340 + Missense_Mutation SNP C C G TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr19:37117340C>G ENST00000435416.1 + 3 2033 c.538C>G c.(538-540)Cct>Gct p.P180A ZNF382_ENST00000423582.1_Missense_Mutation_p.P132A|ZNF382_ENST00000439428.1_Missense_Mutation_p.P180A|ZNF382_ENST00000292928.2_Missense_Mutation_p.P181A Q96SR6 ZN382_HUMAN zinc finger protein 382 181 Represses transcription (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 34 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) GAAAATTCATCCTGCAGTGAA 0.403000 22 92 0 0 1 0 0 OR2T1 26696 broad.mit.edu 37 1 248570260 248570260 + Missense_Mutation SNP A A C TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr1:248570260A>C ENST00000366474.1 + 1 965 c.965A>C c.(964-966)aAa>aCa p.K322T NM_030904.1 NP_112166.1 O43869 OR2T1_HUMAN olfactory receptor, family 2, subfamily T, member 1 322 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 39 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GCCCAGGACAAAGTCCTCTCT 0.522000 88 106 0 0 1 0 0 SLC4A7 9497 broad.mit.edu 37 3 27478888 27478888 + Missense_Mutation SNP T T C TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr3:27478888T>C ENST00000295736.5 - 4 462 c.392A>G c.(391-393)gAa>gGa p.E131G SLC4A7_ENST00000428386.1_Missense_Mutation_p.E131G|SLC4A7_ENST00000437179.1_Missense_Mutation_p.E136G|SLC4A7_ENST00000445684.1_Missense_Mutation_p.E140G|SLC4A7_ENST00000454389.1_Missense_Mutation_p.E140G|SLC4A7_ENST00000425128.2_Missense_Mutation_p.E136G|SLC4A7_ENST00000388777.4_5'UTR|SLC4A7_ENST00000446700.1_Missense_Mutation_p.E136G|SLC4A7_ENST00000455077.1_Missense_Mutation_p.E136G|SLC4A7_ENST00000435667.2_Missense_Mutation_p.E140G|SLC4A7_ENST00000440156.1_Missense_Mutation_p.E140G NM_003615.4 NP_003606.3 Q9Y6M7 S4A7_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 7 131 apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1) 38 CCTAGCAGTTTCTTTCCATTC 0.423000 16 19 0 0 1 0 0 RASGEF1C 255426 broad.mit.edu 37 5 179564879 179564879 + Silent SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr5:179564879G>A ENST00000393371.2 - 1 470 c.174C>T c.(172-174)ccC>ccT p.P58P RASGEF1C_ENST00000361132.4_Silent_p.P58P Q8N431 RGF1C_HUMAN RasGEF domain family, member 1C 58 N-terminal Ras-GEF. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1) 12 all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137) all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CACCCACCTCGGGGTAGTAGT 0.672000 14 8 0 0 1 0 0 NEFL 4747 broad.mit.edu 37 8 24813676 24813676 + RNA SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr8:24813676C>T ENST00000221169.5 - 0 948 P07196 NFL_HUMAN neurofilament, light polypeptide anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission cytosol|neurofilament identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2) 21 Ovarian(32;0.00965)|Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) GCTCGGCTTCCAGGACCTTGT 0.667000 9 10 0 0 1 0 0 ITGAX 3687 broad.mit.edu 37 16 31393158 31393158 + Missense_Mutation SNP T T C TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr16:31393158T>C ENST00000268296.4 + 30 3543 c.3422T>C c.(3421-3423)aTg>aCg p.M1141T ITGAX_ENST00000562522.1_Missense_Mutation_p.M1141T NM_000887.3 NP_000878.2 P20702 ITAX_HUMAN integrin, alpha X (complement component 3 receptor 4 subunit) 1141 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 77 AAGGAAATGATGGAGGAGGCA 0.522000 54 69 0 0 1 0 0 TRHR 7201 broad.mit.edu 37 8 110131307 110131307 + Silent SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr8:110131307C>T ENST00000518632.1 + 3 1171 c.820C>T c.(820-822)Ctg>Ttg p.L274L TRHR_ENST00000311762.2_Silent_p.L274L P34981 TRFR_HUMAN thyrotropin-releasing hormone receptor 274 integral to plasma membrane thyrotropin-releasing hormone receptor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(57;2.3e-11) GGTTGTAATTCTGTTTGCCCT 0.408000 104 175 0 0 1 0 0 NTSR1 4923 broad.mit.edu 37 20 61391401 61391401 + Missense_Mutation SNP A A C TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr20:61391401A>C ENST00000370501.3 + 4 1410 c.1039A>C c.(1039-1041)Atg>Ctg p.M347L NTSR1_ENST00000482259.1_3'UTR NM_002531.2 NP_002522.2 P30989 NTR1_HUMAN neurotensin receptor 1 (high affinity) 347 endoplasmic reticulum|Golgi apparatus|integral to plasma membrane neurotensin receptor activity, G-protein coupled breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3) 27 Breast(26;3.65e-08) BRCA - Breast invasive adenocarcinoma(19;3.63e-06) CTACTTCTACATGGTGACCAA 0.572000 86 119 0 0 1 0 0 SLC26A3 1811 broad.mit.edu 37 7 107415298 107415298 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr7:107415298C>T ENST00000340010.5 - 16 1881 c.1697G>A c.(1696-1698)cGa>cAa p.R566Q SLC26A3_ENST00000422236.2_Missense_Mutation_p.R531Q NM_000111.2 NP_000102.1 P40879 S26A3_HUMAN solute carrier family 26 (anion exchanger), member 3 566 STAS. excretion integral to membrane|membrane fraction inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 GCGTAGAATTCGAAGTGGACT 0.398000 27 40 0 0 1 0 0 AGR2 10551 broad.mit.edu 37 7 16841421 16841421 + Silent SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr7:16841421G>A ENST00000419572.2 - 2 59 c.60C>T c.(58-60)gcC>gcT p.A20A AGR2_ENST00000401412.1_5'UTR|AGR2_ENST00000419304.2_5'UTR O95994 AGR2_HUMAN anterior gradient 2 0 mucus secretion endoplasmic reticulum|extracellular region protein binding endometrium(2)|lung(1)|prostate(1)|skin(2) 6 Lung NSC(10;0.0376)|all_lung(11;0.0855) UCEC - Uterine corpus endometrioid carcinoma (126;0.184) TTTTCTCCATGGCAACTCTAG 0.463000 16 22 0 0 1 0 0 SHANK2 22941 broad.mit.edu 37 11 70332489 70332489 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr11:70332489C>T ENST00000338508.4 - 32 3911 c.3912G>A c.(3910-3912)atG>atA p.M1304I SHANK2_ENST00000449833.2_Missense_Mutation_p.M708I|SHANK2_ENST00000423696.2_Missense_Mutation_p.M924I|SHANK2_ENST00000409161.1_Missense_Mutation_p.M707I Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 924 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) GGGACGTGTCCATGATGTCGA 0.612000 48 71 0 0 1 0 0 CARD18 59082 broad.mit.edu 37 11 105009723 105009723 + Silent SNP T T C TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr11:105009723T>C ENST00000530950.1 - 2 89 c.90A>G c.(88-90)ttA>ttG p.L30L CARD18_ENST00000532895.1_5'UTR|CARD18_ENST00000526823.1_5'UTR NM_021571.3 NP_067546.1 P57730 CAR18_HUMAN caspase recruitment domain family, member 18 30 CARD. inflammatory response|regulation of apoptosis intracellular cysteine-type endopeptidase inhibitor activity central_nervous_system(1)|ovary(1) 2 CTTCATCCTCTAATAGGCAAT 0.408000 45 50 0 0 1 0 0 IL12A-AS1 101928376 broad.mit.edu 37 3 159819924 159819924 + RNA SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr3:159819924G>A ENST00000497452.1 - 0 517 AACCTATGGGGAAGACTCTGA 0.408000 20 22 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228548416 228548416 + Missense_Mutation SNP T T G TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr1:228548416T>G ENST00000284548.11 + 81 19897 c.19823T>G c.(19822-19824)aTc>aGc p.I6608S OBSCN_ENST00000366709.4_Missense_Mutation_p.I3727S|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000570156.2_Intron|OBSCN_ENST00000366707.4_Intron Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 0 Protein kinase 1. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) ACCCTTCACATCTGCCCAGAC 0.627000 6 22 0 0 1 0 0 SLC1A3 6507 broad.mit.edu 37 5 36629559 36629559 + Silent SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr5:36629559C>T ENST00000265113.4 + 3 665 c.189C>T c.(187-189)atC>atT p.I63I SLC1A3_ENST00000381918.3_Silent_p.I63I NM_004172.4 NP_004163.3 P43003 EAA1_HUMAN solute carrier family 1 (glial high affinity glutamate transporter), member 3 63 D-aspartate import|L-glutamate import|neurotransmitter uptake integral to membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1) 41 all_lung(31;0.000245) Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) L-Glutamic Acid(DB00142) CAGGTACAATCCTTGGATTTA 0.398000 23 30 0 0 1 0 0 INTS2 57508 broad.mit.edu 37 17 59962266 59962266 + Silent SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr17:59962266C>T ENST00000444766.3 - 16 2184 c.2109G>A c.(2107-2109)ttG>ttA p.L703L INTS2_ENST00000251334.6_Silent_p.L695L NM_020748.2 NP_065799.1 Q9H0H0 INT2_HUMAN integrator complex subunit 2 703 snRNA processing integral to membrane|integrator complex|nuclear membrane protein binding NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 38 ACATACCTCCCAACTCCTGCT 0.338000 6 11 0 0 1 0 0 TRIM44 54765 broad.mit.edu 37 11 35706842 35706842 + Silent SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr11:35706842C>T ENST00000299413.5 + 2 1012 c.705C>T c.(703-705)atC>atT p.I235I NM_017583.4 NP_060053.2 Q96DX7 TRI44_HUMAN tripartite motif containing 44 235 intracellular protein binding|zinc ion binding endometrium(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 18 all_lung(20;0.0317)|Lung NSC(22;0.0661)|all_epithelial(35;0.115) all_hematologic(20;0.107) CCGCTATGATCGAATTGGTGG 0.433000 24 31 0 0 1 0 0 ABCA12 26154 broad.mit.edu 37 2 215846992 215846992 + Missense_Mutation SNP C C G TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr2:215846992C>G ENST00000272895.7 - 30 4717 c.4498G>C c.(4498-4500)Gta>Cta p.V1500L ABCA12_ENST00000389661.4_Missense_Mutation_p.V1182L NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 1500 ABC transporter 1. cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) TCCAAAATTACTACCCTTGAT 0.413000 57 17 0 0 1 0 0 IKZF4 64375 broad.mit.edu 37 12 56428832 56428832 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr12:56428832C>T ENST00000262032.5 + 12 1842 c.1475C>T c.(1474-1476)cCt>cTt p.P492L IKZF4_ENST00000431367.2_Missense_Mutation_p.P390L|RP11-603J24.4_ENST00000551846.1_RNA|IKZF4_ENST00000547791.1_Missense_Mutation_p.P447L|IKZF4_ENST00000547167.1_Missense_Mutation_p.P492L Q9H2S9 IKZF4_HUMAN IKAROS family zinc finger 4 (Eos) 492 negative regulation of transcription, DNA-dependent nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1) 8 UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123) CGGCACAGTCCTGCCTACGCC 0.652000 29 35 0 0 1 0 0 SBF2 81846 broad.mit.edu 37 11 10052609 10052609 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr11:10052609G>A ENST00000256190.8 - 4 525 c.388C>T c.(388-390)Cca>Tca p.P130S SBF2_ENST00000527019.1_5'UTR NM_030962.3 NP_112224.1 Q86WG5 MTMRD_HUMAN SET binding factor 2 130 DENN. myelination cytoplasm|membrane phosphatase activity|protein binding breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887) AAAATTTCTGGATAATATAAT 0.353000 33 56 0 0 1 0 0 PTPRB 5787 broad.mit.edu 37 12 71031154 71031154 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr12:71031154C>T ENST00000334414.6 - 1 66 c.22G>A c.(22-24)Gtg>Atg p.V8M PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000551525.1_Missense_Mutation_p.V8M|PTPRB_ENST00000550358.1_Missense_Mutation_p.V8M NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 0 angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) GTAAGAATCACCATGTAAAAT 0.448000 8 22 0 0 1 0 0 UBBP4 23666 broad.mit.edu 37 17 21731144 21731144 + Missense_Mutation SNP T T G rs149119138 by1000genomes TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr17:21731144T>G ENST00000584755.1 + 2 843 c.446T>G c.(445-447)cTg>cGg p.L149R UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R|UBBP4_ENST00000584398.1_3'UTR p.L149R(18) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GTCCTGCGTCTGAGAGGTGGT 0.542000 5 101 0 0 1 0 0 ZNF610 162963 broad.mit.edu 37 19 52856990 52856990 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr19:52856990C>T ENST00000601151.1 + 4 571 c.119C>T c.(118-120)tCc>tTc p.S40F ZNF610_ENST00000403906.3_Missense_Mutation_p.S40F|ZNF610_ENST00000327920.8_Missense_Mutation_p.S40F|ZNF610_ENST00000321287.8_Missense_Mutation_p.S40F NM_001161427.1 NP_001154899.1 Q8N9Z0 ZN610_HUMAN zinc finger protein 610 40 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2) 34 OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434) GAGTGGAAATCCCTGGACCCT 0.488000 22 82 0 0 1 0 0 GFOD2 81577 broad.mit.edu 37 16 67719524 67719524 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr16:67719524G>A ENST00000268797.7 - 2 440 c.95C>T c.(94-96)gCc>gTc p.A32V GFOD2_ENST00000602377.1_5'UTR NM_030819.3 NP_110446.3 Q3B7J2 GFOD2_HUMAN glucose-fructose oxidoreductase domain containing 2 32 proteinaceous extracellular matrix binding|oxidoreductase activity breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 19 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242) CCCCCACAGGGCCTCAACAGT 0.587000 34 31 0 0 1 0 0 OR2B11 127623 broad.mit.edu 37 1 247615124 247615124 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr1:247615124C>T ENST00000318749.6 - 1 184 c.161G>A c.(160-162)cGg>cAg p.R54Q NM_001004492.1 NP_001004492.1 Q5JQS5 OR2BB_HUMAN olfactory receptor, family 2, subfamily B, member 11 54 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 60 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.241) OV - Ovarian serous cystadenocarcinoma(106;0.0188) AGGATCCACCCGGGATGCCAG 0.587000 61 66 0 0 1 0 0 RAPGEFL1 51195 broad.mit.edu 37 17 38346934 38346934 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr17:38346934G>A ENST00000436615.3 + 8 1127 c.637G>A c.(637-639)Gag>Aag p.E213K RAPGEFL1_ENST00000456989.2_Missense_Mutation_p.E268K|RAPGEFL1_ENST00000540388.1_3'UTR|RAPGEFL1_ENST00000544503.1_Missense_Mutation_p.E262K|RAPGEFL1_ENST00000264644.6_Missense_Mutation_p.E213K NM_016339.3 NP_057423.1 Q9UHV5 RPGFL_HUMAN Rap guanine nucleotide exchange factor (GEF)-like 1 419 G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction intracellular|membrane fraction guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1) 15 TGGAGACACAGAGATCCACCG 0.647000 73 95 0 0 1 0 0 ACAN 176 broad.mit.edu 37 15 89395185 89395185 + Silent SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr15:89395185C>T ENST00000439576.2 + 11 2561 c.2187C>T c.(2185-2187)atC>atT p.I729I ACAN_ENST00000561243.1_Silent_p.I729I|ACAN_ENST00000559004.1_Silent_p.I729I|ACAN_ENST00000352105.7_Silent_p.I729I NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 729 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) CTACTGCCATCCTAGAGTTCA 0.577000 11 8 0 0 1 0 0 OAS3 4940 broad.mit.edu 37 12 113405393 113405393 + Nonsense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr12:113405393C>T ENST00000228928.7 + 13 3039 c.2860C>T c.(2860-2862)Cag>Tag p.Q954* RP1-71H24.1_ENST00000552784.1_RNA NM_006187.2 NP_006178.2 Q9Y6K5 OAS3_HUMAN 2'-5'-oligoadenylate synthetase 3, 100kDa 954 OAS domain 3. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway microsome ATP binding|nucleotidyltransferase activity|RNA binding breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2) 27 GCACTGGTACCAGCAGGTTCG 0.592000 9 16 0 0 1 0 0 ENPEP 2028 broad.mit.edu 37 4 111397596 111397596 + Missense_Mutation SNP C C T rs147278588 TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr4:111397596C>T ENST00000265162.5 + 1 368 c.26C>T c.(25-27)tCt>tTt p.S9F NM_001977.3 NP_001968.3 Q07075 AMPE_HUMAN glutamyl aminopeptidase (aminopeptidase A) 9 cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) AGAGAGGGCTCTAAGAGATAC 0.433000 61 83 0 0 1 0 0 ITPR1 3708 broad.mit.edu 37 3 4714902 4714902 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr3:4714902G>A ENST00000302640.8 + 20 2592 c.2242G>A c.(2242-2244)Gat>Aat p.D748N ITPR1_ENST00000423119.2_Missense_Mutation_p.D763N|ITPR1_ENST00000456211.2_Missense_Mutation_p.D748N|ITPR1_ENST00000354582.6_Missense_Mutation_p.D763N|ITPR1_ENST00000357086.4_Missense_Mutation_p.D763N|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000443694.2_Missense_Mutation_p.D748N NM_001168272.1 NP_001161744.1 Q14643 ITPR1_HUMAN inositol 1,4,5-trisphosphate receptor, type 1 763 activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2) 106 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) GCTGGATGTCGATCTCATTCT 0.547000 20 10 0 0 1 0 0 DCC 1630 broad.mit.edu 37 18 50985631 50985631 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr18:50985631G>A ENST00000442544.2 + 24 4038 c.3422G>A c.(3421-3423)aGg>aAg p.R1141K DCC_ENST00000581580.1_Missense_Mutation_p.R776K NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 1141 apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) GCTGGCAAAAGGAAGGGCAGC 0.468000 20 35 0 0 1 0 0 CACNA1H 8912 broad.mit.edu 37 16 1270510 1270510 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr16:1270510C>T ENST00000348261.5 + 35 6826 c.6578C>T c.(6577-6579)tCg>tTg p.S2193L CACNA1H_ENST00000565831.1_Missense_Mutation_p.S2187L|CACNA1H_ENST00000358590.4_Missense_Mutation_p.S2187L NM_021098.2 NP_066921.2 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, alpha 1H subunit 2193 aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) CCCTGCATCTCGGTGGAACCC 0.731000 29 48 0 0 1 0 0 PRDM9 56979 broad.mit.edu 37 5 23509152 23509152 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr5:23509152G>A ENST00000296682.3 + 2 192 c.10G>A c.(10-12)Gaa>Aaa p.E4K NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 4 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 CATGAGCCCTGAAAAGTCCCA 0.572000 HNSCC(3;0.000094) 9 18 0 0 1 0 0 ARMC3 219681 broad.mit.edu 37 10 23297853 23297853 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr10:23297853G>A ENST00000298032.5 + 16 2122 c.2038G>A c.(2038-2040)Gga>Aga p.G680R ARMC3_ENST00000409049.3_Missense_Mutation_p.G680R|ARMC3_ENST00000409983.3_Missense_Mutation_p.G673R|ARMC3_ENST00000376528.4_Missense_Mutation_p.G417R NM_173081.3 NP_775104.2 Q5W041 ARMC3_HUMAN armadillo repeat containing 3 680 binding breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 CAAAGAAAAAGGATGGAGGTA 0.473000 7 18 0 0 1 0 0 CCRN4L 25819 broad.mit.edu 37 4 139965950 139965950 + Silent SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr4:139965950C>T ENST00000280614.2 + 3 811 c.618C>T c.(616-618)ctC>ctT p.L206L ELF2_ENST00000515489.1_Intron NM_012118.2 NP_036250.2 Q9UK39 NOCT_HUMAN CCR4 carbon catabolite repression 4-like (S. cerevisiae) 206 rhythmic process|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity kidney(2)|large_intestine(3)|lung(3)|ovary(1) 9 all_hematologic(180;0.162) TCCAGCCACTCCTCAGTAGAC 0.463000 26 54 0 0 1 0 0 ZBTB14 7541 broad.mit.edu 37 18 5291481 5291481 + Silent SNP A A G TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr18:5291481A>G ENST00000357006.4 - 4 1064 c.726T>C c.(724-726)aaT>aaC p.N242N ZBTB14_ENST00000400143.3_Silent_p.N242N NM_001143823.2|NM_001243704.1 NP_001137295.1|NP_001230633.1 zinc finger and BTB domain containing 14 TCATCCCATCATTAAATGTTA 0.483000 42 61 0 0 1 0 0 ASXL3 80816 broad.mit.edu 37 18 31324403 31324403 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr18:31324403G>A ENST00000269197.5 + 12 4591 c.4591G>A c.(4591-4593)Gaa>Aaa p.E1531K NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 1531 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 AGTTGCCAACGAAGGTATAGA 0.542000 OREG0024911 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 15 0 0 1 0 0 RPGRIP1 57096 broad.mit.edu 37 14 21794180 21794180 + Missense_Mutation SNP T T G TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr14:21794180T>G ENST00000206660.6 + 16 2558 c.2558T>G c.(2557-2559)tTc>tGc p.F853C RPGRIP1_ENST00000382933.4_Intron|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.F815C|RPGRIP1_ENST00000307974.4_Missense_Mutation_p.F212C|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.F853C|RPGRIP1_ENST00000556336.1_Intron Q96KN7 RPGR1_HUMAN retinitis pigmentosa GTPase regulator interacting protein 1 853 C2. response to stimulus|visual perception cilium breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1) 39 all_cancers(95;0.0017) all_cancers(140;0.0973) Epithelial(56;6.24e-07)|all cancers(55;6.56e-06) GBM - Glioblastoma multiforme(265;0.00888) CAGGCTCGATTCCCAGTGCTT 0.488000 25 39 0 0 1 0 0 TRPM2 7226 broad.mit.edu 37 21 45846587 45846587 + Silent SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr21:45846587G>A ENST00000397928.1 + 26 4285 c.3840G>A c.(3838-3840)agG>agA p.R1280R TRPM2_ENST00000300481.9_Silent_p.R1260R|TRPM2_ENST00000397932.2_Silent_p.R1330R|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Silent_p.R1280R NM_003307.3 NP_003298.1 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 1280 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 CGGCAGAGAGGAAGGACGCGG 0.597000 35 85 0 0 1 0 0 TENM3 55714 broad.mit.edu 37 4 183549964 183549964 + Missense_Mutation SNP T T C TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr4:183549964T>C ENST00000511685.1 + 5 1033 c.910T>C c.(910-912)Tac>Cac p.Y304H TENM3_ENST00000406950.2_Missense_Mutation_p.Y304H teneurin transmembrane protein 3 GTCTTCAAAGTACTGTAGCTG 0.428000 4 10 0 0 1 0 0 DHX34 9704 broad.mit.edu 37 19 47879315 47879315 + Silent SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr19:47879315C>T ENST00000328771.4 + 11 2791 c.2442C>T c.(2440-2442)gtC>gtT p.V814V NM_014681.5 NP_055496.2 Q14147 DHX34_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 34 814 intracellular ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132) AGCTGGCCGTCCCCGACGCCT 0.652000 38 37 0 0 1 0 0 C16orf62 57020 broad.mit.edu 37 16 19711759 19711759 + Silent SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr16:19711759G>A ENST00000438132.3 + 31 3168 c.3120G>A c.(3118-3120)acG>acA p.T1040T C16orf62_ENST00000417362.2_Silent_p.T858T|C16orf62_ENST00000543152.1_Silent_p.T700T|C16orf62_ENST00000542263.1_Silent_p.T947T|C16orf62_ENST00000448695.1_Silent_p.T801T|C16orf62_ENST00000251143.5_Silent_p.T951T NM_020314.5 NP_064710.4 Q7Z3J2 CP062_HUMAN chromosome 16 open reading frame 62 951 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 36 CTCATCTGACGGAGCTGGCCC 0.507000 23 51 0 0 1 0 0 PNN 5411 broad.mit.edu 37 14 39649733 39649733 + Missense_Mutation SNP T T A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr14:39649733T>A ENST00000216832.4 + 9 887 c.820T>A c.(820-822)Ttt>Att p.F274I PNN_ENST00000557680.1_3'UTR NM_002687.3 NP_002678.2 Q9H307 PININ_HUMAN pinin, desmosome associated protein 274 Glu-rich.|Necessary for interaction with RNPS1. cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck DNA binding|protein binding|structural molecule activity breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1) 27 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0119) ACGCATCGAATTTGCAGAACA 0.338000 10 15 0 0 1 0 0 ADSL 158 broad.mit.edu 37 22 40757276 40757276 + Splice_Site SNP G G T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr22:40757276G>T ENST00000216194.7 + 8 848 c.e8-1 ADSL_ENST00000342312.6_Splice_Site|ADSL_ENST00000480775.1_3'UTR|ADSL_ENST00000454266.2_Splice_Site NM_000026.2 NP_000017.1 P30566 PUR8_HUMAN adenylosuccinate lyase AMP biosynthetic process|protein tetramerization|purine base metabolic process cytosol (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1) 19 ACCTCCCCCAGATTTGCACCG 0.522000 70 239 1.37693e-34 1.41377e-34 1 1 0 USP19 10869 broad.mit.edu 37 3 49154675 49154675 + Silent SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr3:49154675G>A ENST00000453664.1 - 6 1014 c.696C>T c.(694-696)gcC>gcT p.A232A USP19_ENST00000398892.3_Silent_p.A179A|USP19_ENST00000417901.1_Silent_p.A242A|USP19_ENST00000398888.2_Intron|USP19_ENST00000398896.1_Intron|USP19_ENST00000398898.2_Silent_p.A179A|USP19_ENST00000488993.1_5'UTR|USP19_ENST00000434032.2_Silent_p.A242A NM_001199161.1|NM_001199162.1 NP_001186090.1|NP_001186091.1 O94966 UBP19_HUMAN ubiquitin specific peptidase 19 0 ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy endoplasmic reticulum membrane|integral to membrane ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) TCTGGTTCCGGGCCTCCTGCT 0.716000 5 1 0 0 1 0 0 UGT1A6 54578 broad.mit.edu 37 2 234602173 234602173 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr2:234602173C>T ENST00000305139.6 + 1 662 c.523C>T c.(523-525)Ccg>Tcg p.P175S UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A9_ENST00000354728.4_Intron|AC114812.8_ENST00000439336.1_RNA|UGT1A6_ENST00000373424.1_Intron NM_001072.3 NP_001063.2 central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1) 22 Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128) Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702) CAGGGGTTTTCCGTGTTCCCT 0.507000 142 30 0 0 1 0 0 LPHN2 23266 broad.mit.edu 37 1 82432134 82432134 + Silent SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr1:82432134C>T ENST00000370728.1 + 15 2823 c.2178C>T c.(2176-2178)ttC>ttT p.F726F LPHN2_ENST00000335786.5_Silent_p.F726F|LPHN2_ENST00000370723.1_Silent_p.F713F|LPHN2_ENST00000271029.4_Silent_p.F726F|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370730.1_Silent_p.F726F|LPHN2_ENST00000370721.1_Silent_p.F651F|LPHN2_ENST00000394879.1_Silent_p.F713F|LPHN2_ENST00000319517.6_Silent_p.F713F|LPHN2_ENST00000370713.1_Silent_p.F713F|LPHN2_ENST00000370715.1_Silent_p.F713F|LPHN2_ENST00000370725.1_Silent_p.F726F|LPHN2_ENST00000370717.2_Silent_p.F726F|LPHN2_ENST00000370727.1_Silent_p.F726F|LPHN2_ENST00000359929.3_Silent_p.F713F O95490 LPHN2_HUMAN latrophilin 2 726 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) TGGGACAGTTCCTTAGTACAG 0.383000 24 48 0 0 1 0 0 PRICKLE1 144165 broad.mit.edu 37 12 42858961 42858961 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr12:42858961G>A ENST00000455697.1 - 7 1160 c.875C>T c.(874-876)cCc>cTc p.P292L PRICKLE1_ENST00000445766.2_Missense_Mutation_p.P292L|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.P292L|RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.P292L|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.P292L NM_001144882.1|NM_001144883.1 NP_001138354.1|NP_001138355.1 Q96MT3 PRIC1_HUMAN prickle homolog 1 (Drosophila) 292 LIM zinc-binding 3. negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus cytosol|nuclear membrane zinc ion binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 47 all_cancers(12;4.25e-05)|Breast(8;0.176) GBM - Glioblastoma multiforme(48;0.2) GGGAAGGAAGGGACATCCCAA 0.522000 51 36 0 0 1 0 0 ZFP28 140612 broad.mit.edu 37 19 57061948 57061948 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr19:57061948G>A ENST00000301318.3 + 7 943 c.872G>A c.(871-873)cGa>cAa p.R291Q AC007228.11_ENST00000596587.1_RNA|ZFP28_ENST00000591844.1_Missense_Mutation_p.R291Q NM_020828.1 NP_065879.1 Q8NHY6 ZFP28_HUMAN ZFP28 zinc finger protein 291 KRAB 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 35 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0302) ATGGTGAAGCGAGAGCTGACA 0.493000 22 16 0 0 1 0 0 MTNR1A 4543 broad.mit.edu 37 4 187455635 187455635 + Silent SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr4:187455635C>T ENST00000307161.5 - 2 462 c.261G>A c.(259-261)tcG>tcA p.S87S RP11-215A19.2_ENST00000509111.1_Intron NM_005958.3 NP_005949.1 P48039 MTR1A_HUMAN melatonin receptor 1A 87 circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior integral to plasma membrane melatonin receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 14 all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159) Melatonin(DB01065)|Ramelteon(DB00980) TGTTAAATATCGACATCAGCA 0.507000 25 32 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176759002 176759002 + Missense_Mutation SNP T T G TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr1:176759002T>G ENST00000367662.3 + 18 5937 c.4773T>G c.(4771-4773)atT>atG p.I1591M NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1591 Sushi 3. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 GCAGCTGCATTCCTGTGGTGT 0.473000 30 47 0 0 1 0 0 OR1N1 138883 broad.mit.edu 37 9 125289392 125289392 + Missense_Mutation SNP A A T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr9:125289392A>T ENST00000304880.2 - 1 180 c.181T>A c.(181-183)Ttg>Atg p.L61M NM_012363.1 NP_036495.1 Q8NGS0 OR1N1_HUMAN olfactory receptor, family 1, subfamily N, member 1 61 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 15 AGGTTGGCCAAGAAAAAGTAC 0.483000 31 12 0 0 1 0 0 NYNRIN 57523 broad.mit.edu 37 14 24884798 24884798 + Silent SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr14:24884798G>A ENST00000382554.3 + 9 4161 c.3843G>A c.(3841-3843)gaG>gaA p.E1281E NM_025081.2 NP_079357.2 Q9P2P1 NYNRI_HUMAN NYN domain and retroviral integrase containing 1281 DNA integration integral to membrane DNA binding breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 TGCTGGGGGAGAACCGCCTGC 0.617000 51 89 0 0 1 0 0 RAB3IP 117177 broad.mit.edu 37 12 70188971 70188971 + Silent SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr12:70188971C>T ENST00000550536.1 + 6 1240 c.783C>T c.(781-783)tcC>tcT p.S261S RAB3IP_ENST00000325555.9_Silent_p.S39S|RAB3IP_ENST00000362025.5_Silent_p.S261S|RAB3IP_ENST00000553099.1_Silent_p.S39S|RAB3IP_ENST00000378815.6_Silent_p.S245S|RAB3IP_ENST00000483530.2_Silent_p.S245S|RAB3IP_ENST00000551641.1_Silent_p.S39S|RAB3IP_ENST00000247833.7_Silent_p.S245S NM_001278402.1|NM_175623.2 NP_001265331.1|NP_783322.1 Q96QF0 RAB3I_HUMAN RAB3A interacting protein 261 cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus guanyl-nucleotide exchange factor activity|protein binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 22 Esophageal squamous(21;0.187) Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694) TTGTATTGTCCAGTTCTCCAA 0.398000 64 41 0 0 1 0 0 HBB 3043 broad.mit.edu 37 11 5247807 5247807 + Splice_Site SNP C C T rs33914944 TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr11:5247807C>T ENST00000335295.3 - 2 490 c.315_splice c.e2+1 p.R105_splice NM_000518.4 NP_000509.1 P68871 HBB_HUMAN hemoglobin, beta 105 R -> S (in Camperdown and Duino; associated with P-92 in Duino; unstable).|R -> T (in Sherwood Forest). blood coagulation|hydrogen peroxide catabolic process|nitric oxide transport|positive regulation of cell death|positive regulation of nitric oxide biosynthetic process|protein heterooligomerization|regulation of blood pressure|regulation of blood vessel size haptoglobin-hemoglobin complex|hemoglobin complex heme binding|hemoglobin binding|oxygen binding|oxygen transporter activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1) 15 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) Iron Dextran(DB00893) ATAGACTCACCCTGAAGTTCT 0.483000 Sickle Cell Trait 26 46 0 0 1 0 0 DNM1P47 100216544 broad.mit.edu 37 15 102304772 102304772 + RNA SNP T T C TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr15:102304772T>C ENST00000561463.1 + 0 12818 CACAGCGGCGTGACGAGACTC 0.587000 6 25 0 0 1 0 0 C22orf43 51233 broad.mit.edu 37 22 23967085 23967085 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr22:23967085G>A ENST00000317749.5 - 3 580 c.283C>T c.(283-285)Cca>Tca p.P95S NM_016449.3 NP_057533.2 Q6PGQ1 CV043_HUMAN chromosome 22 open reading frame 43 95 endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1) 11 ACAGGTGATGGTAAAATCTGC 0.383000 69 114 0 0 1 0 0 ZFP69B 65243 broad.mit.edu 37 1 40928119 40928119 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr1:40928119G>A ENST00000411995.2 + 6 838 c.463G>A c.(463-465)Gag>Aag p.E155K ZFP69B_ENST00000484445.1_Missense_Mutation_p.R126K|ZFP69B_ENST00000361584.3_Missense_Mutation_p.E53K NM_023070.2 NP_075558.2 ZFP69 zinc finger protein B AAAAACCAAAGAGTCAGCCTT 0.353000 44 91 0 0 1 0 0 C4orf46 201725 broad.mit.edu 37 4 159590801 159590801 + Silent SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr4:159590801C>T ENST00000379205.4 - 2 550 c.306G>A c.(304-306)ttG>ttA p.L102L C4orf46_ENST00000508457.1_3'UTR|C4orf46_ENST00000508836.1_5'UTR NM_001008393.2 NP_001008394.1 Q504U0 CD046_HUMAN chromosome 4 open reading frame 46 102 kidney(1)|lung(3)|skin(1) 5 AGCCTTCTTTCAAGAGGTCCC 0.373000 17 30 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75038084 75038084 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr1:75038084C>T ENST00000326665.5 - 14 3528 c.3310G>A c.(3310-3312)Gaa>Aaa p.E1104K C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 1104 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 GTCTCTGTTTCCCCTTCTTCC 0.453000 47 76 0 0 1 0 0 ZNF324B 388569 broad.mit.edu 37 19 58965615 58965615 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr19:58965615C>T ENST00000336614.4 + 3 249 c.142C>T c.(142-144)Cgt>Tgt p.R48C ZNF324B_ENST00000391696.1_5'UTR|ZNF324B_ENST00000545523.1_Missense_Mutation_p.R48C|ZNF324B_ENST00000594214.1_Missense_Mutation_p.R48C NM_207395.2 NP_997278.2 Q6AW86 Z324B_HUMAN zinc finger protein 324B 48 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R48C(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179) CTCCCGACCTCGTGTGGTCAT 0.602000 24 6 0 0 1 0 0 SVEP1 79987 broad.mit.edu 37 9 113312238 113312238 + Silent SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr9:113312238C>T ENST00000401783.2 - 2 1014 c.678G>A c.(676-678)ggG>ggA p.G226G SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Silent_p.G226G|SVEP1_ENST00000374469.1_Silent_p.G203G|SVEP1_ENST00000374461.1_Silent_p.G203G NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 226 VWFA. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 CTCGAATGTTCCCTTGCCATA 0.493000 15 13 0 0 1 0 0 HPGDS 27306 broad.mit.edu 37 4 95239110 95239110 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr4:95239110G>A ENST00000295256.5 - 3 230 c.140C>T c.(139-141)cCa>cTa p.P47L HPGDS_ENST00000514774.1_5'UTR NM_014485.2 NP_055300.1 O60760 HPGDS_HUMAN hematopoietic prostaglandin D synthase 47 GST N-terminal. locomotory behavior|prostaglandin biosynthetic process|signal transduction cytoplasm|nucleus calcium ion binding|glutathione transferase activity|magnesium ion binding|prostaglandin-D synthase activity|protein homodimerization activity breast(1)|cervix(1)|lung(3)|ovary(1)|urinary_tract(1) 7 Glutathione(DB00143) TTTTCCAAATGGGAGAGCTTA 0.328000 14 26 0 0 1 0 0 CFB 629 broad.mit.edu 37 6 31895859 31895859 + Silent SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr6:31895859C>T ENST00000556679.1 + 2 229 c.174C>T c.(172-174)tcC>tcT p.S58S C2_ENST00000442278.2_Intron|C2_ENST00000469372.1_Intron|C2_ENST00000418949.2_Silent_p.S58S|C2_ENST00000452323.2_Intron|CFB_ENST00000477310.1_Silent_p.S58S|CFB_ENST00000456570.1_Silent_p.S58S|C2_ENST00000299367.5_Silent_p.S58S P00751 CFAB_HUMAN complement factor B 69 Sushi 1. complement activation, alternative pathway|proteolysis extracellular region|plasma membrane complement binding|serine-type endopeptidase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1) 21 TGTACCCATCCCCAGCATCAC 0.637000 14 20 0 0 1 0 0 MUC3A 4584 broad.mit.edu 37 7 100551652 100551652 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr7:100551652C>T ENST00000319509.7 + 1 403 c.403C>T c.(403-405)Cct>Tct p.P135S mucin 3A, cell surface associated breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 ACAGACCCCTCCTGTACTGAC 0.483000 198 355 0 0 1 0 0 POM121 9883 broad.mit.edu 37 7 72413525 72413525 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr7:72413525G>A ENST00000395270.1 + 14 3239 c.2198G>A c.(2197-2199)gGa>gAa p.G733E POM121_ENST00000358357.3_Missense_Mutation_p.G733E|POM121_ENST00000257622.4_Missense_Mutation_p.G733E|POM121_ENST00000434423.2_Missense_Mutation_p.G998E|POM121_ENST00000446813.1_Missense_Mutation_p.G733E NM_001257190.1 NP_001244119.1 Q96HA1 P121A_HUMAN POM121 transmembrane nucleoporin 998 Pore side (Potential). carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Lung NSC(55;0.163) TTCACTTTTGGAAACTCTGCA 0.657000 36 178 0 0 1 0 0 TIMELESS 8914 broad.mit.edu 37 12 56826249 56826249 + Silent SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr12:56826249G>A ENST00000229201.4 - 7 742 c.588C>T c.(586-588)ggC>ggT p.G196G TIMELESS_ENST00000554616.1_Silent_p.G197G|TIMELESS_ENST00000553532.1_Silent_p.G197G NM_003920.3 NP_003911.2 Q9UNS1 TIM_HUMAN timeless circadian clock 197 cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent nuclear chromatin NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 49 GGTCATCCAGGCCGCTGAGGT 0.537000 39 70 0 0 1 0 0 CD5L 922 broad.mit.edu 37 1 157803152 157803152 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr1:157803152G>A ENST00000368174.4 - 5 965 c.869C>T c.(868-870)tCc>tTc p.S290F NM_005894.2 NP_005885.1 O43866 CD5L_HUMAN CD5 molecule-like 290 SRCR 3. apoptosis|cellular defense response extracellular space|membrane scavenger receptor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 52 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) GGGAGAGAGGGACTTCCCACA 0.587000 49 83 0 0 1 0 0 C17orf80 55028 broad.mit.edu 37 17 71232534 71232534 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr17:71232534G>A ENST00000359042.2 + 3 1107 c.913G>A c.(913-915)Gag>Aag p.E305K C17orf80_ENST00000577615.1_Missense_Mutation_p.E305K|C17orf80_ENST00000255557.4_Missense_Mutation_p.E305K|C17orf80_ENST00000426147.2_Missense_Mutation_p.E305K|C17orf80_ENST00000582793.1_Intron|FAM104A_ENST00000583178.1_Intron|C17orf80_ENST00000268942.8_Missense_Mutation_p.E305K|C17orf80_ENST00000535032.2_Missense_Mutation_p.E305K NM_017941.4 NP_060411.2 Q9BSJ5 CQ080_HUMAN chromosome 17 open reading frame 80 305 integral to membrane kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2) 14 LUSC - Lung squamous cell carcinoma(166;0.197) CCTGGGAGTAGAGACGTGTGG 0.433000 21 30 0 0 1 0 0 NTPCR 84284 broad.mit.edu 37 1 233086482 233086482 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr1:233086482G>A ENST00000366627.4 + 1 97 c.26G>A c.(25-27)gGg>gAg p.G9E NTPCR_ENST00000366628.4_Missense_Mutation_p.G9E Q9BSD7 NTPCR_HUMAN nucleoside-triphosphatase, cancer-related 9 ATP binding|nucleoside-triphosphatase activity|nucleotide phosphatase activity|transferase activity large_intestine(2)|lung(1)|ovary(1) 4 TTCCTAACGGGGCCCCCAGGT 0.701000 15 28 0 0 1 0 0 FBXO21 23014 broad.mit.edu 37 12 117628131 117628131 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr12:117628131C>T ENST00000427718.2 - 1 205 c.131G>A c.(130-132)tGc>tAc p.C44Y FBXO21_ENST00000330622.5_Missense_Mutation_p.C44Y NM_015002.2|NM_033624.2 NP_055817.1|NP_296373.1 O94952 FBX21_HUMAN F-box protein 21 44 F-box. ubiquitin-dependent protein catabolic process ubiquitin ligase complex ubiquitin-protein ligase activity 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) CAGCGAGCCGCAGCACAGGAT 0.711000 15 10 0 0 1 0 0 OR13C3 138803 broad.mit.edu 37 9 107298302 107298302 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr9:107298302G>A ENST00000374781.2 - 1 835 c.793C>T c.(793-795)Cgc>Tgc p.R265C NM_001001961.1 NP_001001961.1 Q8NGS6 O13C3_HUMAN olfactory receptor, family 13, subfamily C, member 3 265 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1) 19 AATGCCTTGCGTCTTCCTGTG 0.428000 45 23 0 0 1 0 0 LRRC37B 114659 broad.mit.edu 37 17 30376284 30376284 + Silent SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr17:30376284G>A ENST00000327564.7 + 10 2689 c.2628G>A c.(2626-2628)ctG>ctA p.L876L LRRC37B_ENST00000543378.2_Silent_p.L767L|LRRC37B_ENST00000394713.3_Silent_p.L798L|LRRC37B_ENST00000584368.1_Silent_p.L810L|LRRC37B_ENST00000341671.7_Silent_p.L849L Q96QE4 LR37B_HUMAN leucine rich repeat containing 37B 849 integral to membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 29 Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244) CAGGCCTCCTGATGAAGCTTC 0.433000 25 39 0 0 1 0 0 PPL 5493 broad.mit.edu 37 16 4934359 4934359 + Nonsense_Mutation SNP C C A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr16:4934359C>A ENST00000345988.2 - 22 4386 c.4297G>T c.(4297-4299)Gaa>Taa p.E1433* PPL_ENST00000590782.2_Nonsense_Mutation_p.E1431* NM_002705.4 NP_002696.3 O60437 PEPL_HUMAN periplakin 1433 keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2) 62 TCAGCTTCTTCCTGCTCCAGC 0.682000 69 96 9.35569e-46 9.6221e-46 1 1 0 NRIP1 8204 broad.mit.edu 37 21 16338386 16338386 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr21:16338386G>A ENST00000400202.1 - 3 2840 c.2128C>T c.(2128-2130)Cgt>Tgt p.R710C NRIP1_ENST00000400199.1_Missense_Mutation_p.R710C|NRIP1_ENST00000318948.4_Missense_Mutation_p.R710C P48552 NRIP1_HUMAN nuclear receptor interacting protein 1 710 androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 39 Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24) AGGACAGTACGTCTTTCAAGC 0.408000 9 14 0 0 1 0 0 RAB3IP 117177 broad.mit.edu 37 12 70149365 70149365 + Translation_Start_Site SNP T T G TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr12:70149365T>G ENST00000325555.9 + 0 372 RAB3IP_ENST00000362025.5_Missense_Mutation_p.D75E|RAB3IP_ENST00000378815.6_Missense_Mutation_p.D59E|RAB3IP_ENST00000550536.1_Missense_Mutation_p.D75E|RAB3IP_ENST00000483530.2_Missense_Mutation_p.D59E|RAB3IP_ENST00000247833.7_Missense_Mutation_p.D59E NM_022456.3 NP_071901.2 Q96QF0 RAB3I_HUMAN RAB3A interacting protein cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus guanyl-nucleotide exchange factor activity|protein binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 22 Esophageal squamous(21;0.187) Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694) ATGCATTAGATGTTTCTGAAC 0.418000 31 115 0 0 1 0 0 MAP3K6 9064 broad.mit.edu 37 1 27683182 27683182 + Silent SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr1:27683182G>A ENST00000374040.3 - 24 3659 c.3399C>T c.(3397-3399)tcC>tcT p.S1133S MAP3K6_ENST00000493901.1_Silent_p.S1141S|MAP3K6_ENST00000357582.2_Silent_p.S1141S O95382 M3K6_HUMAN mitogen-activated protein kinase kinase kinase 6 1141 activation of JUN kinase activity ATP binding|magnesium ion binding|MAP kinase kinase kinase activity breast(4)|central_nervous_system(2)|lung(3)|ovary(1) 10 all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) GGCTCTGCTGGGAGTCCCCTT 0.647000 20 30 0 0 1 0 0 CROCCP2 84809 broad.mit.edu 37 1 16946323 16946323 + RNA SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr1:16946323C>T ENST00000412962.1 - 0 1196 GCAGAGGCCACGCCAGGGCTC 0.662000 3 10 0 0 1 0 0 PADI4 23569 broad.mit.edu 37 1 17674526 17674526 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr1:17674526C>T ENST00000375448.4 + 10 1164 c.1138C>T c.(1138-1140)Ccc>Tcc p.P380S PADI4_ENST00000487048.1_3'UTR|AC004824.2_ENST00000602074.1_Intron NM_012387.2 NP_036519.2 Q9UM07 PADI4_HUMAN peptidyl arginine deiminase, type IV 380 chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3) 26 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199) L-Citrulline(DB00155) GAAGGAGTTTCCCATCAAACG 0.577000 18 41 0 0 1 0 0 CD248 57124 broad.mit.edu 37 11 66083748 66083748 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr11:66083748C>T ENST00000311330.3 - 1 767 c.751G>A c.(751-753)Gat>Aat p.D251N RP11-867G23.13_ENST00000534065.1_RNA NM_020404.2 NP_065137.1 Q9HCU0 CD248_HUMAN CD248 molecule, endosialin 251 integral to membrane|proteinaceous extracellular matrix calcium ion binding|sugar binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 26 Cefalotin(DB00456) ACGTGACCATCCACCTCCTCC 0.687000 26 36 0 0 1 0 0 CNN1 1264 broad.mit.edu 37 19 11660173 11660173 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr19:11660173G>A ENST00000592923.1 + 7 964 c.387G>A c.(385-387)atG>atA p.M129I CNN1_ENST00000252456.2_Missense_Mutation_p.M179I|CNN1_ENST00000535659.2_Missense_Mutation_p.M129I|CNN1_ENST00000544952.1_Missense_Mutation_p.M159I P51911 CNN1_HUMAN calponin 1, basic, smooth muscle 179 CH. actomyosin structure organization|regulation of smooth muscle contraction cytoskeleton actin binding|calmodulin binding breast(1)|endometrium(2)|large_intestine(4)|lung(2) 9 AGCAGGGCATGACGGCCTATG 0.582000 31 55 0 0 1 0 0 APOBR 55911 broad.mit.edu 37 16 28509528 28509528 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr16:28509528G>A ENST00000564831.1 + 3 3115 c.3082G>A c.(3082-3084)Gag>Aag p.E1028K APOBR_ENST00000431282.1_Missense_Mutation_p.E1019K|APOBR_ENST00000328423.5_Missense_Mutation_p.E1019K NM_018690.3 NP_061160.3 Q0VD83 APOBR_HUMAN apolipoprotein B receptor 1019 cholesterol metabolic process|lipid transport chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1) 29 GCAGCAGGAGGAGCCCCCAGC 0.662000 9 9 0 0 1 0 0 NUF2 83540 broad.mit.edu 37 1 163307814 163307814 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr1:163307814C>T ENST00000271452.3 + 7 719 c.440C>T c.(439-441)tCc>tTc p.S147F NUF2_ENST00000490881.1_3'UTR|NUF2_ENST00000524800.1_Missense_Mutation_p.S147F|NUF2_ENST00000367900.3_Missense_Mutation_p.S147F NM_145697.2 NP_663735.2 Q9BZD4 NUF2_HUMAN NUF2, NDC80 kinetochore complex component 147 Interaction with the N-terminus of NDC80. cell division|chromosome segregation|mitotic prometaphase condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 all_hematologic(923;0.101) TAATAGAAATCCTCTGCGGAC 0.353000 20 41 0 0 1 0 0 AOC4P 90586 broad.mit.edu 37 17 41020789 41020789 + RNA SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr17:41020789C>T ENST00000585538.1 + 0 1628 NR_002773.1 GCTCAGCATTCCCCTTTGGTG 0.532000 8 16 0 0 1 0 0 ZNF12 7559 broad.mit.edu 37 7 6730689 6730689 + Silent SNP T T A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr7:6730689T>A ENST00000405858.1 - 5 2425 c.1884A>T c.(1882-1884)tcA>tcT p.S628S ZNF12_ENST00000342651.5_Silent_p.S590S|AC073343.13_ENST00000366167.2_RNA|ZNF12_ENST00000404360.1_Silent_p.S554S NM_006956.2|NM_016265.3 NP_008887.2|NP_057349.2 P17014 ZNF12_HUMAN zinc finger protein 12 628 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3) 16 Ovarian(82;0.0776) UCEC - Uterine corpus endometrioid carcinoma (126;0.0231) GTTTCTCTCCTGAATGAATTC 0.413000 21 37 0 0 1 0 0 JUP 3728 broad.mit.edu 37 17 39925852 39925852 + Nonsense_Mutation SNP C C A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr17:39925852C>A ENST00000393931.3 - 3 404 c.286G>T c.(286-288)Gag>Tag p.E96* JUP_ENST00000393930.1_Nonsense_Mutation_p.E96*|JUP_ENST00000310706.5_Nonsense_Mutation_p.E96*|JUP_ENST00000540235.1_Nonsense_Mutation_p.E96* NM_002230.2 NP_002221.1 P14923 PLAK_HUMAN junction plakoglobin 96 adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1) 23 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.233) BRCA - Breast invasive adenocarcinoma(366;0.15) GAGCTGTCCTCGCCTGACACA 0.662000 7 9 2.0095e-06 2.02267e-06 1 1 0 NCKAP1L 3071 broad.mit.edu 37 12 54917264 54917264 + Silent SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr12:54917264G>A ENST00000293373.6 + 19 2044 c.1965G>A c.(1963-1965)gaG>gaA p.E655E NCKAP1L_ENST00000545638.2_Silent_p.E605E NM_005337.4 NP_005328.2 P55160 NCKPL_HUMAN NCK-associated protein 1-like 655 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2) 80 GAAAAGGAGAGCCCGAGAGGG 0.537000 53 90 0 0 1 0 0 ADAM7 8756 broad.mit.edu 37 8 24324436 24324436 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr8:24324436G>A ENST00000175238.6 + 6 597 c.514G>A c.(514-516)Gag>Aag p.E172K RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.E172K|ADAM7_ENST00000441335.2_Missense_Mutation_p.E172K|RP11-624C23.1_ENST00000523578.1_RNA NM_003817.3 NP_003808.2 Q9H2U9 ADAM7_HUMAN ADAM metallopeptidase domain 7 172 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15) 64 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) TTCCTGTACAGAGCTTAATTT 0.363000 46 63 0 0 1 0 0 NSUN7 79730 broad.mit.edu 37 4 40776902 40776902 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr4:40776902C>T ENST00000381782.2 + 6 1255 c.760C>T c.(760-762)Cca>Tca p.P254S NSUN7_ENST00000316607.5_Missense_Mutation_p.P254S|NSUN7_ENST00000463952.1_3'UTR NM_024677.4 NP_078953.3 NOP2/Sun domain family, member 7 NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 12 CTTAATTTTTCCATCTCATCT 0.264000 12 21 0 0 1 0 0 OR10G2 26534 broad.mit.edu 37 14 22102462 22102462 + Silent SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr14:22102462C>T ENST00000542433.1 - 1 634 c.537G>A c.(535-537)gtG>gtA p.V179V NM_001005466.1 NP_001005466.1 Q8NGC3 O10G2_HUMAN olfactory receptor, family 10, subfamily G, member 2 179 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2) 22 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0142) TAAAGTAATCCACCTGATTGG 0.572000 59 106 0 0 1 0 0 PHF7 51533 broad.mit.edu 37 3 52454956 52454956 + Nonsense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr3:52454956C>T ENST00000327906.3 + 7 1111 c.451C>T c.(451-453)Caa>Taa p.Q151* PHF7_ENST00000347025.2_Nonsense_Mutation_p.Q151*|PHF7_ENST00000478707.1_Nonsense_Mutation_p.Q151* NM_016483.4 NP_057567.3 Q9BWX1 PHF7_HUMAN PHD finger protein 7 151 nucleus zinc ion binding breast(2)|large_intestine(4)|lung(3) 9 BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275) ACAGAACATCCAACATGGGCA 0.468000 65 30 0 0 1 0 0 BCL2 596 broad.mit.edu 37 18 60985872 60985872 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr18:60985872C>T ENST00000398117.1 - 1 1489 c.28G>A c.(28-30)Gat>Aat p.D10N BCL2_ENST00000333681.4_Missense_Mutation_p.D10N|BCL2_ENST00000589955.1_Missense_Mutation_p.D10N|BCL2_ENST00000444484.1_Missense_Mutation_p.D10N NM_000633.2 NP_000624.2 P10415 BCL2_HUMAN B-cell CLL/lymphoma 2 10 activation of pro-apoptotic gene products|anti-apoptosis|apoptosis in response to endoplasmic reticulum stress|B cell proliferation|B cell receptor signaling pathway|defense response to virus|female pregnancy|humoral immune response|induction of apoptosis by intracellular signals|negative regulation of cellular pH reduction|negative regulation of mitochondrial depolarization|negative regulation of neuron apoptosis|neuron apoptosis|positive regulation of B cell proliferation|positive regulation of cell growth|protein polyubiquitination|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|regulation of transmembrane transporter activity|release of cytochrome c from mitochondria|response to cytokine stimulus|response to DNA damage stimulus|response to drug|response to iron ion|response to nicotine|response to toxin endoplasmic reticulum membrane|mitochondrial outer membrane|nuclear membrane|pore complex BH3 domain binding|channel activity|protease binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(106)|kidney(1)|large_intestine(1)|lung(3) 113 all_hematologic(56;1.18e-20)|Prostate(75;0.0872) Lung(128;0.0234)|READ - Rectum adenocarcinoma(59;0.0935) Docetaxel(DB01248)|Fludarabine(DB01073)|Melatonin(DB01065)|Paclitaxel(DB01229)|Rasagiline(DB01367) TCCCGGTTATCGTACCCTGTT 0.647000 T IGH@ """NHL, CLL""" 68 106 0 0 1 0 0 SEL1L2 80343 broad.mit.edu 37 20 13830214 13830214 + Missense_Mutation SNP T T G TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr20:13830214T>G ENST00000284951.5 - 20 2058 c.1984A>C c.(1984-1986)Acc>Ccc p.T662P SEL1L2_ENST00000378072.5_Missense_Mutation_p.T549P|SEL1L2_ENST00000486903.1_5'UTR Q5TEA6 SE1L2_HUMAN sel-1 suppressor of lin-12-like 2 (C. elegans) 662 integral to membrane binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 51 GGTCCAATGGTGTTGTCCAGT 0.478000 28 45 0 0 1 0 0 TG 7038 broad.mit.edu 37 8 134108454 134108454 + Missense_Mutation SNP T T G TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr8:134108454T>G ENST00000220616.4 + 43 7449 c.7409T>G c.(7408-7410)cTg>cGg p.L2470R SLA_ENST00000338087.5_Intron|TG_ENST00000542445.1_Missense_Mutation_p.L840R|SLA_ENST00000518565.1_Intron|TG_ENST00000377869.1_Missense_Mutation_p.L2413R|SLA_ENST00000524345.1_Intron|SLA_ENST00000517648.1_Intron|SLA_ENST00000395352.3_Intron|TG_ENST00000519543.1_Missense_Mutation_p.L603R NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 2470 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) ATGCAGCTCCTGGCCGTGAGT 0.498000 82 120 0 0 1 0 0 FAM208A 23272 broad.mit.edu 37 3 56667652 56667652 + Missense_Mutation SNP T T C TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr3:56667652T>C ENST00000431842.2 - 11 2780 c.1856A>G c.(1855-1857)gAg>gGg p.E619G FAM208A_ENST00000493960.2_Missense_Mutation_p.E1056G|FAM208A_ENST00000355628.5_Missense_Mutation_p.E995G NM_015224.3 NP_056039.2 Q9UK61 CC063_HUMAN family with sequence similarity 208, member A 1056 NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1) 32 TTTCATCTTCTCTTGTGTTGA 0.363000 8 46 0 0 1 0 0 OPRK1 4986 broad.mit.edu 37 8 54142250 54142250 + Silent SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr8:54142250G>A ENST00000265572.3 - 4 1047 c.750C>T c.(748-750)atC>atT p.I250I OPRK1_ENST00000520287.1_Silent_p.I250I|OPRK1_ENST00000524278.1_Silent_p.I161I|RP11-162D9.3_ENST00000524425.1_RNA NM_000912.3 NP_000903.2 P41145 OPRK_HUMAN opioid receptor, kappa 1 250 behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication integral to plasma membrane kappa-opioid receptor activity|protein binding NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1) 43 all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136) Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193) TGAGACGCAGGATCATCAGGG 0.547000 21 46 0 0 1 0 0 UROC1 131669 broad.mit.edu 37 3 126220131 126220131 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr3:126220131G>A ENST00000383579.3 - 11 1108 c.1075C>T c.(1075-1077)Cct>Tct p.P359S UROC1_ENST00000290868.2_Intron NM_001165974.1 NP_001159446.1 Q96N76 HUTU_HUMAN urocanate hydratase 1 0 histidine catabolic process cytosol urocanate hydratase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1) 39 GBM - Glioblastoma multiforme(114;0.17) TCCCTGGAAGGACACAAAAGC 0.592000 67 112 0 0 1 0 0 ATP8A1 10396 broad.mit.edu 37 4 42454043 42454043 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr4:42454043G>A ENST00000381668.5 - 30 3082 c.2851C>T c.(2851-2853)Cac>Tac p.H951Y ATP8A1_ENST00000264449.10_Missense_Mutation_p.H936Y NM_006095.2 NP_006086.1 Q9Y2Q0 AT8A1_HUMAN ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 951 ATP biosynthetic process chromaffin granule membrane|integral to membrane|plasma membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Phosphatidylserine(DB00144) ATAACTGAGTGGAAGAGGCCA 0.363000 12 16 0 0 1 0 0 PCDHB2 56133 broad.mit.edu 37 5 140474984 140474984 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr5:140474984C>T ENST00000194155.4 + 1 758 c.610C>T c.(610-612)Cgc>Tgc p.R204C NM_018936.2 NP_061759.1 Q9Y5E7 PCDB2_HUMAN 204 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGCCCTGGATCGCGAGGAGCA 0.507000 6 10 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34049385 34049385 + Missense_Mutation SNP A A C TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr1:34049385A>C ENST00000373381.4 - 47 7273 c.7097T>G c.(7096-7098)aTc>aGc p.I2366S NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2368 CUB 14. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) CTGGCTCAGGATCACGCCTGT 0.537000 19 43 0 0 1 0 0 L3MBTL1 26013 broad.mit.edu 37 20 42161441 42161441 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr20:42161441G>A ENST00000444063.1 + 9 1175 c.1043G>A c.(1042-1044)gGc>gAc p.G348D L3MBTL1_ENST00000418998.1_Missense_Mutation_p.G416D|L3MBTL1_ENST00000373135.3_Missense_Mutation_p.G348D|L3MBTL1_ENST00000373134.1_Missense_Mutation_p.G348D|L3MBTL1_ENST00000427442.2_Missense_Mutation_p.G416D Q9Y468 LMBL1_HUMAN l(3)mbt-like 1 (Drosophila) 348 chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis chromatin|condensed chromosome|nucleoplasm identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|large_intestine(3)|ovary(1)|skin(2) 7 TTCCAGGTGGGCATGAAGCTG 0.612000 69 78 0 0 1 0 0 ISM2 145501 broad.mit.edu 37 14 77948812 77948812 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr14:77948812G>A ENST00000393684.3 - 5 953 c.562C>T c.(562-564)Cct>Tct p.P188S ISM2_ENST00000342219.4_Missense_Mutation_p.P276S|ISM2_ENST00000493585.1_Intron|ISM2_ENST00000429906.1_Missense_Mutation_p.P195S|ISM2_ENST00000412904.1_Missense_Mutation_p.P195S Q6H9L7 ISM2_HUMAN isthmin 2 276 extracellular region endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1) 21 tcctctgaaggatagtcctcg 0.557000 19 34 0 0 1 0 0 ZNF585A 199704 broad.mit.edu 37 19 37644152 37644152 + Missense_Mutation SNP T T A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr19:37644152T>A ENST00000356958.4 - 5 907 c.649A>T c.(649-651)Agc>Tgc p.S217C ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000355533.2_Missense_Mutation_p.S162C|ZNF585A_ENST00000292841.5_Missense_Mutation_p.S162C|ZNF585A_ENST00000392157.2_Missense_Mutation_p.S162C Q6P3V2 Z585A_HUMAN zinc finger protein 585A 217 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CCACACTGGCTGCATTCATAG 0.418000 30 38 0 0 1 0 0 MDGA1 266727 broad.mit.edu 37 6 37606051 37606051 + Silent SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr6:37606051C>T ENST00000434837.2 - 16 3884 c.2706G>A c.(2704-2706)ggG>ggA p.G902G MDGA1_ENST00000297153.7_Silent_p.G906G|MDGA1_ENST00000505425.1_Silent_p.G902G NM_153487.3 NP_705691.1 Q8NFP4 MDGA1_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 1 902 MAM. brain development|neuron migration|spinal cord association neuron differentiation anchored to plasma membrane central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 38 TGGCAATATCCCCCAGGTAGC 0.577000 31 38 0 0 1 0 0 GABRA3 2556 broad.mit.edu 37 X 151514133 151514133 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chrX:151514133G>A ENST00000370314.4 - 3 420 c.182C>T c.(181-183)aCt>aTt p.T61I GABRA3_ENST00000535043.1_Missense_Mutation_p.T61I|GABRA3_ENST00000370311.1_Missense_Mutation_p.T61I NM_000808.3 NP_000799.1 P34903 GBRA3_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 3 61 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6) 37 Acute lymphoblastic leukemia(192;6.56e-05) Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) GATGTTGTCAGTGCTGTCATC 0.428000 33 8 0 0 1 0 0 RGS9 8787 broad.mit.edu 37 17 63193346 63193346 + Silent SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr17:63193346G>A ENST00000449996.3 + 13 1026 c.954G>A c.(952-954)aaG>aaA p.K318K RGS9_ENST00000262406.9_Silent_p.K321K|RGS9_ENST00000443584.3_Silent_p.K318K NM_001081955.2 NP_001075424.1 O75916 RGS9_HUMAN regulator of G-protein signaling 9 321 RGS. intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3) 41 ACTTCCTCAAGAAAGAATTCA 0.413000 13 18 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34123663 34123663 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr1:34123663C>T ENST00000373381.4 - 27 4506 c.4330G>A c.(4330-4332)Ggc>Agc p.G1444S CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373380.1_Missense_Mutation_p.G317S NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1404 integral to membrane|plasma membrane protein binding p.G1404S(1) NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GTGGAGTCGCCGGCTTCCCAA 0.582000 42 74 0 0 1 0 0 DEPDC5 9681 broad.mit.edu 37 22 32275614 32275614 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr22:32275614C>T ENST00000382105.2 + 35 3708 c.3566C>T c.(3565-3567)tCg>tTg p.S1189L DEPDC5_ENST00000382111.2_Silent_p.L1303L|DEPDC5_ENST00000400248.1_Silent_p.L1272L|DEPDC5_ENST00000400249.2_Silent_p.L1272L|DEPDC5_ENST00000382112.3_Silent_p.L1294L|DEPDC5_ENST00000400246.1_Silent_p.L1303L|DEPDC5_ENST00000266091.3_Silent_p.L1281L|DEPDC5_ENST00000539165.1_Silent_p.L120L|DEPDC5_ENST00000535622.1_Silent_p.L1203L O75140 DEPD5_HUMAN DEP domain containing 5 0 DEP. intracellular signal transduction breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 CAGAAGAGCTCGTGCACTCTG 0.602000 44 52 0 0 1 0 0 AFG3L2 10939 broad.mit.edu 37 18 12348319 12348319 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr18:12348319G>A ENST00000269143.3 - 13 1847 c.1616C>T c.(1615-1617)tCc>tTc p.S539F NM_006796.2 NP_006787.2 Q9Y4W6 AFG32_HUMAN AFG3-like AAA ATPase 2 539 cell death|protein catabolic process|proteolysis integral to membrane ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1) 27 Adenosine triphosphate(DB00171) CTGATTTATGGAATCTGACAG 0.398000 23 29 0 0 1 0 0 PCDH11Y 83259 broad.mit.edu 37 Y 4968154 4968154 + Silent SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chrY:4968154C>T ENST00000333703.4 + 5 3015 c.2502C>T c.(2500-2502)atC>atT p.I834I PCDH11Y_ENST00000215473.6_Silent_p.I845I|PCDH11Y_ENST00000362095.5_Silent_p.I845I NM_001278619.1|NM_032971.2 NP_001265548.1|NP_116753.1 Q9BZA8 PC11Y_HUMAN protocadherin 11 Y-linked 845 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 ATGTCAAGATCCTGGTTGCAG 0.463000 29 10 0 0 1 0 0 GPR149 344758 broad.mit.edu 37 3 154056036 154056036 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr3:154056036G>A ENST00000389740.2 - 4 1747 c.1648C>T c.(1648-1650)Ccc>Tcc p.P550S NM_001038705.1 NP_001033794.1 Q86SP6 GP149_HUMAN G protein-coupled receptor 149 550 integral to membrane|plasma membrane G-protein coupled receptor activity autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2) 47 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) GCACACAAGGGAATGGCAAGG 0.433000 54 93 0 0 1 0 0 ZNF212 7988 broad.mit.edu 37 7 148951243 148951243 + Missense_Mutation SNP A A T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr7:148951243A>T ENST00000335870.2 + 5 1353 c.1225A>T c.(1225-1227)Aac>Tac p.N409Y NM_012256.3 NP_036388.2 Q9UDV6 ZN212_HUMAN zinc finger protein 212 409 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|identical protein binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1) 9 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00171) GTTCTCACCCAACAGCCTGGT 0.597000 15 19 0 0 1 0 0 TLL1 7092 broad.mit.edu 37 4 166986934 166986934 + Missense_Mutation SNP T T A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr4:166986934T>A ENST00000061240.2 + 16 2754 c.2107T>A c.(2107-2109)Tcc>Acc p.S703T TLL1_ENST00000507499.1_Missense_Mutation_p.S726T NM_012464.4 NP_036596.3 O43897 TLL1_HUMAN tolloid-like 1 703 CUB 3. cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) AGTGATCACATCCCAGTTCAA 0.398000 32 32 0 0 1 0 0 AKR1D1 6718 broad.mit.edu 37 7 137761275 137761275 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr7:137761275G>A ENST00000242375.3 + 1 53 c.11G>A c.(10-12)aGt>aAt p.S4N AKR1D1_ENST00000432161.1_Missense_Mutation_p.S4N|AKR1D1_ENST00000411726.2_Missense_Mutation_p.S4N|AKR1D1_ENST00000468877.2_Intron NM_005989.3 NP_005980.1 P51857 AK1D1_HUMAN aldo-keto reductase family 1, member D1 4 androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion cytosol aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 23 ATGGATCTCAGTGCTGCAAGT 0.448000 27 27 0 0 1 0 0 CLOCK 9575 broad.mit.edu 37 4 56308643 56308643 + Silent SNP G G T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr4:56308643G>T ENST00000309964.4 - 20 2311 c.2061C>A c.(2059-2061)acC>acA p.T687T CLOCK_ENST00000381322.1_Silent_p.T687T|CLOCK_ENST00000513440.1_Silent_p.T687T NM_004898.3 NP_004889.1 O15516 CLOCK_HUMAN clock circadian regulator 687 circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter cytoplasm|transcription factor complex DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107) CAGCACTCTGGGTGCTGTTTT 0.413000 31 49 1.36615e-20 1.3957e-20 1 1 0 GOPC 57120 broad.mit.edu 37 6 117890746 117890746 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr6:117890746G>A ENST00000535237.1 - 7 1295 c.1066C>T c.(1066-1068)Ctt>Ttt p.L356F GOPC_ENST00000052569.6_Missense_Mutation_p.L348F|GOPC_ENST00000467125.1_5'UTR|DCBLD1_ENST00000296955.8_Intron|GOPC_ENST00000368498.2_Missense_Mutation_p.L356F golgi-associated PDZ and coiled-coil motif containing GOPC/ROS1(14) endometrium(1)|large_intestine(3)|lung(4)|ovary(1) 9 all_cancers(87;0.00844)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976) TGCTGAGAAAGAATAGTTACA 0.408000 O ROS1 glioblastoma 25 20 0 0 1 0 0 ABCA8 10351 broad.mit.edu 37 17 66873807 66873807 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr17:66873807C>T ENST00000269080.2 - 31 4069 c.3932G>A c.(3931-3933)gGg>gAg p.G1311E ABCA8_ENST00000586539.1_Missense_Mutation_p.G1351E|ABCA8_ENST00000430352.2_Missense_Mutation_p.G1351E NM_007168.2 NP_009099.1 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A (ABC1), member 8 1311 ABC transporter 2. integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4) 83 Breast(10;4.56e-13) TCCACCGCTCCCTTTCAGTAG 0.552000 39 48 0 0 1 0 0 CDR1 1038 broad.mit.edu 37 X 139866322 139866322 + Silent SNP C C A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chrX:139866322C>A ENST00000370532.2 - 1 401 c.210G>T c.(208-210)tcG>tcT p.S70S NM_004065.2 NP_004056.2 P51861 CDR1_HUMAN cerebellar degeneration-related protein 1, 34kDa 70 23 X 6 AA approximate repeats. p.S70S(1) breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1) 25 Acute lymphoblastic leukemia(192;7.65e-05) Lung SC(4;0.051) CCATAGCTTCCGAAAAATCCA 0.458000 12 63 3.07112e-06 3.0862e-06 1 1 0 LILRB4 11006 broad.mit.edu 37 19 55175721 55175721 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr19:55175721G>A ENST00000391736.1 + 6 755 c.440G>A c.(439-441)cGg>cAg p.R147Q LILRB4_ENST00000391733.3_Missense_Mutation_p.R147Q|LILRB4_ENST00000430952.2_Missense_Mutation_p.R147Q|LILRB4_ENST00000391734.3_Missense_Mutation_p.R147Q|LILRB4_ENST00000270452.2_Missense_Mutation_p.R147Q NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2 NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1 Q8NHJ6 LIRB4_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 147 Ig-like C2-type 2. integral to membrane|plasma membrane antigen binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3) 39 GBM - Glioblastoma multiforme(193;0.035) TGTCAGTCACGGAGCCCAATG 0.572000 33 52 0 0 1 0 0 MAZ 4150 broad.mit.edu 37 16 29818724 29818724 + Silent SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr16:29818724G>A ENST00000219782.6 + 2 724 c.618G>A c.(616-618)cgG>cgA p.R206R AC009133.15_ENST00000566537.1_RNA|MAZ_ENST00000545521.1_Silent_p.R183R|MAZ_ENST00000562337.1_Intron|MAZ_ENST00000563402.1_Intron|MAZ_ENST00000322945.6_Silent_p.R206R|MAZ_ENST00000566906.2_Intron NM_001042539.1 NP_001036004.1 P56270 MAZ_HUMAN MYC-associated zinc finger protein (purine-binding transcription factor) 206 regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter nucleus DNA binding|protein binding|RNA binding|zinc ion binding endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 10 ACAATCTCCGGAGGCACGAAG 0.642000 19 26 0 0 1 0 0 NRG1 3084 broad.mit.edu 37 8 32463201 32463201 + Splice_Site SNP G G A rs78513616 TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr8:32463201G>A ENST00000341377.5 + 3 917 c.400_splice c.e3+1 p.E134_splice NRG1_ENST00000287845.5_Splice_Site_p.A134_splice|NRG1_ENST00000405005.2_Splice_Site_p.E134_splice|NRG1_ENST00000287840.5_Splice_Site_p.E134_splice|NRG1_ENST00000519301.1_Splice_Site_p.A113_splice|NRG1_ENST00000338921.4_Splice_Site_p.E134_splice|NRG1_ENST00000521670.1_Splice_Site_p.E134_splice|NRG1_ENST00000287842.3_Splice_Site_p.E134_splice|NRG1_ENST00000523079.1_Splice_Site_p.E134_splice|NRG1_ENST00000356819.4_Splice_Site_p.E134_splice|NRG1_ENST00000520407.1_Splice_Site_p.A349_splice Q02297 NRG1_HUMAN neuregulin 1 134 activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1) 39 Breast(100;0.203) KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943) GGAATCAAACGGTAAGAGATA 0.398000 30 55 0 0 1 0 0 TAS2R60 338398 broad.mit.edu 37 7 143141462 143141462 + Missense_Mutation SNP T T G TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr7:143141462T>G ENST00000332690.1 + 1 917 c.917T>G c.(916-918)gTg>gGg p.V306G EPHA1-AS1_ENST00000429289.1_RNA NM_177437.1 NP_803186.1 P59551 T2R60_HUMAN taste receptor, type 2, member 60 306 sensory perception of bitter taste integral to membrane G-protein coupled receptor activity breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2) 31 Melanoma(164;0.172) CTGAGAGCTGTGCTGAAGAGT 0.498000 37 85 0 0 1 0 0 PLA2G4F 255189 broad.mit.edu 37 15 42436185 42436185 + Silent SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr15:42436185G>A ENST00000397272.3 - 18 2230 c.2139C>T c.(2137-2139)gcC>gcT p.A713A PLA2G4F_ENST00000382396.4_Silent_p.A711A NM_213600.3 NP_998765.3 Q68DD2 PA24F_HUMAN phospholipase A2, group IVF 711 PLA2c. phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(94;8.97e-07) CCTCAAAAGGGGCTTCCAAGG 0.577000 39 94 0 0 1 0 0 THBS1 7057 broad.mit.edu 37 15 39877722 39877722 + Missense_Mutation SNP A A G TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr15:39877722A>G ENST00000260356.5 + 7 1243 c.1078A>G c.(1078-1080)Aat>Gat p.N360D NM_003246.2 NP_003237.2 P07996 TSP1_HUMAN thrombospondin 1 360 VWFC. activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223) GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105) Becaplermin(DB00102) GCCCTGCTCCAATGCCACAGT 0.498000 29 52 0 0 1 0 0 HOMER2 9455 broad.mit.edu 37 15 83561518 83561518 + Silent SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr15:83561518C>T ENST00000304231.8 - 2 273 c.81G>A c.(79-81)gcG>gcA p.A27A HOMER2_ENST00000399166.2_Silent_p.A27A|HOMER2_ENST00000426485.1_Silent_p.A27A|HOMER2_ENST00000450735.2_Silent_p.A27A NM_199330.2 NP_955362.1 Q9NSB8 HOME2_HUMAN homer homolog 2 (Drosophila) 27 WH1. metabotropic glutamate receptor signaling pathway cell junction|cytoplasm|postsynaptic density|postsynaptic membrane p.A27A(1)|p.A90A(1) cervix(1)|endometrium(2)|lung(6) 9 CCTGCTTGCTCGCAGGCATCC 0.542000 4 174 0 0 1 0 0 LRRC4B 94030 broad.mit.edu 37 19 51022129 51022129 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr19:51022129C>T ENST00000599957.1 - 3 1038 c.841G>A c.(841-843)Gag>Aag p.E281K LRRC4B_ENST00000389201.3_Missense_Mutation_p.E281K Q9NT99 LRC4B_HUMAN leucine rich repeat containing 4B 281 cell junction|integral to membrane|presynaptic membrane breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1) 30 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188) AGGTTGAGCTCCTCCAGCGAC 0.642000 34 90 0 0 1 0 0 KSR2 283455 broad.mit.edu 37 12 118105430 118105430 + Silent SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr12:118105430C>T ENST00000425217.1 - 5 987 c.933G>A c.(931-933)aaG>aaA p.K311K KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000339824.5_Silent_p.K340K|KSR2_ENST00000302438.5_Silent_p.K37K NM_173598.4 NP_775869.3 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 340 intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TGCTGTGGATCTTGAGGTTCA 0.542000 9 30 0 0 1 0 0 CEACAM20 125931 broad.mit.edu 37 19 45026919 45026919 + RNA SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr19:45026919G>A ENST00000454753.1 - 0 773 Q6UY09 CEA20_HUMAN carcinoembryonic antigen-related cell adhesion molecule 20 integral to membrane central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1) 15 Prostate(69;0.0352) ACTCCAATTTGATTTCAACAG 0.493000 3 5 0 0 1 0 0 TRIML2 205860 broad.mit.edu 37 4 189026074 189026074 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr4:189026074C>T ENST00000512729.1 - 2 426 c.52G>A c.(52-54)Gaa>Aaa p.E18K TRIML2_ENST00000326754.3_Missense_Mutation_p.E18K|TRIML2_ENST00000536972.1_Missense_Mutation_p.E68K NM_173553.1 NP_775824.1 Q8N7C3 TRIMM_HUMAN tripartite motif family-like 2 18 ligase activity central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1) 39 all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513) OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163) TTCAATATTTCCTGGAATAAC 0.393000 23 56 0 0 1 0 0 ALOXE3 59344 broad.mit.edu 37 17 8006773 8006773 + Silent SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr17:8006773G>A ENST00000380149.1 - 14 2322 c.2292C>T c.(2290-2292)tcC>tcT p.S764S ALOXE3_ENST00000318227.3_Silent_p.S740S|ALOXE3_ENST00000448843.2_Silent_p.S608S Q9BYJ1 LOXE3_HUMAN arachidonate lipoxygenase 3 608 leukotriene biosynthetic process iron ion binding|lipoxygenase activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4) 31 GCTGCCTCATGGATGATGGAG 0.577000 25 31 0 0 1 0 0 CCDC178 374864 broad.mit.edu 37 18 30873195 30873195 + Silent SNP C C T rs138698300 TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr18:30873195C>T ENST00000383096.3 - 12 1286 c.1104G>A c.(1102-1104)aaG>aaA p.K368K CCDC178_ENST00000583930.1_Silent_p.K368K|CCDC178_ENST00000402325.1_Silent_p.K368K|CCDC178_ENST00000403303.1_Silent_p.K368K|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000300227.8_Silent_p.K368K|CCDC178_ENST00000406524.2_Silent_p.K368K|CCDC178_ENST00000579947.1_Silent_p.K368K coiled-coil domain containing 178 CTTCCTCTTCCTTCTCCTCAA 0.294000 8 15 0 0 1 0 0 PRR15L 79170 broad.mit.edu 37 17 46030548 46030548 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr17:46030548G>A ENST00000300557.2 - 2 303 c.53C>T c.(52-54)tCc>tTc p.S18F RP11-6N17.9_ENST00000582262.1_RNA NM_024320.3 NP_077296.1 Q9BU68 PR15L_HUMAN proline rich 15-like 18 NS(1)|cervix(1)|ovary(1)|pancreas(1) 4 TTTGGGAGTGGATTTCTTTTT 0.562000 62 118 0 0 1 0 0 PCDHA7 56141 broad.mit.edu 37 5 140213990 140213990 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr5:140213990G>A ENST00000525929.1 + 1 22 c.22G>A c.(22-24)Gac>Aac p.D8N PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.D8N|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron NM_018910.2 NP_061733.1 NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAATGGATACGACCCAGGGGG 0.458000 37 18 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110456989 110456989 + Missense_Mutation SNP G G A rs146630772 by1000genomes TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr8:110456989G>A ENST00000378402.5 + 38 4995 c.4891G>A c.(4891-4893)Gaa>Aaa p.E1631K NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 1631 IPT/TIG 8. immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TGGTATCAGGGAAACTGTCAC 0.413000 HNSCC(38;0.096) 91 154 0 0 1 0 0 TRPV5 56302 broad.mit.edu 37 7 142612202 142612202 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr7:142612202G>A ENST00000265310.1 - 11 1649 c.1301C>T c.(1300-1302)tCc>tTc p.S434F NM_019841.4 NP_062815.2 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, subfamily V, member 5 434 protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 67 Melanoma(164;0.059) CAGCACCAGGGAGGCATAGGT 0.567000 9 29 0 0 1 0 0 SPEN 23013 broad.mit.edu 37 1 16262471 16262471 + Missense_Mutation SNP A A C TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr1:16262471A>C ENST00000375759.3 + 11 9940 c.9736A>C c.(9736-9738)Acc>Ccc p.T3246P NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 3246 Pro-rich. interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding 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) ccccacccccacccctgcccc 0.662000 3 9 0 0 1 0 0 ZZEF1 23140 broad.mit.edu 37 17 3984774 3984774 + Missense_Mutation SNP G G T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr17:3984774G>T ENST00000381638.2 - 18 2849 c.2725C>A c.(2725-2727)Cca>Aca p.P909T ZZEF1_ENST00000574474.1_5'UTR NM_015113.3 NP_055928.3 O43149 ZZEF1_HUMAN zinc finger, ZZ-type with EF-hand domain 1 909 calcium ion binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 84 AGGCCGCCTGGATCCTTGTCA 0.453000 33 46 4.3181e-19 4.40417e-19 1 1 0 GH1 2688 broad.mit.edu 37 17 61995792 61995792 + Missense_Mutation SNP T T C TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr17:61995792T>C ENST00000323322.5 - 2 127 c.85A>G c.(85-87)Acc>Gcc p.T29A CSHL1_ENST00000392824.4_Intron|GH1_ENST00000351388.4_Missense_Mutation_p.T29A|GH1_ENST00000458650.2_Missense_Mutation_p.T29A|GH1_ENST00000342364.4_Missense_Mutation_p.T29A NM_000515.3 NP_000506.2 P01241 SOMA_HUMAN growth hormone 1 29 glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus extracellular space growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10) 19 AAGGGAATGGTTGGGAAGGCA 0.592000 96 145 0 0 1 0 0 IL17RC 84818 broad.mit.edu 37 3 9960211 9960211 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr3:9960211C>T ENST00000295981.3 + 5 814 c.596C>T c.(595-597)tCc>tTc p.S199F IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000403601.3_Missense_Mutation_p.S128F|IL17RC_ENST00000413608.1_Missense_Mutation_p.S128F|IL17RC_ENST00000383812.4_Missense_Mutation_p.S128F|IL17RC_ENST00000416074.2_Intron|IL17RC_ENST00000455057.1_Missense_Mutation_p.S128F NM_153461.3 NP_703191.1 Q8NAC3 I17RC_HUMAN interleukin 17 receptor C 199 integral to membrane|plasma membrane receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 GTCGTGCTCTCCTTCCAGGCC 0.617000 36 21 0 0 1 0 0 IGSF9B 22997 broad.mit.edu 37 11 133807295 133807295 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr11:133807295G>A ENST00000321016.8 - 5 885 c.655C>T c.(655-657)Cac>Tac p.H219Y IGSF9B_ENST00000533871.2_Missense_Mutation_p.H219Y Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 219 Ig-like 2. integral to membrane|plasma membrane breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) TGAGTCGTGTGGACAGCCTCC 0.632000 6 27 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16893773 16893773 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr1:16893773G>A ENST00000430580.2 - 25 3627 c.2740C>T c.(2740-2742)Cct>Tct p.P914S NBPF1_ENST00000420031.2_3'UTR|NBPF1_ENST00000432949.1_3'UTR NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 914 NBPF 5. cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TAACCTGAAGGAGTTGAATAA 0.483000 23 1022 0 0 1 0 0 CCDC129 223075 broad.mit.edu 37 7 31682628 31682628 + Silent SNP T T C TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr7:31682628T>C ENST00000319386.3 + 11 2193 c.1200T>C c.(1198-1200)caT>caC p.H400H CCDC129_ENST00000451887.2_Silent_p.H574H|CCDC129_ENST00000407970.3_Silent_p.H548H|CCDC129_ENST00000409210.1_Silent_p.H456H Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 548 cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31) 44 CAATGCCCCATGCTGAGTATG 0.522000 72 119 0 0 1 0 0 PCDHGA11 56105 broad.mit.edu 37 5 140801768 140801768 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr5:140801768G>A ENST00000398587.2 + 1 1007 c.974G>A c.(973-975)gGt>gAt p.G325D PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.G325D|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron NM_018914.2|NM_032092.1 NP_061737.1|NP_114481.1 breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGCCAAGATGGTGGAGGTCTC 0.388000 29 24 0 0 1 0 0 NPHS1 4868 broad.mit.edu 37 19 36340038 36340038 + Silent SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr19:36340038C>T ENST00000378910.5 - 8 851 c.852G>A c.(850-852)ccG>ccA p.P284P NPHS1_ENST00000353632.6_Silent_p.P284P NM_004646.3 NP_004637.1 O60500 NPHN_HUMAN nephrosis 1, congenital, Finnish type (nephrin) 284 Ig-like C2-type 3. cell adhesion|excretion|muscle organ development integral to plasma membrane NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CTGTGGACACCGGCTGGCCAT 0.677000 19 51 0 0 1 0 0 TRBV10-2 28584 broad.mit.edu 37 7 142206692 142206692 + RNA SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr7:142206692G>A ENST00000426318.2 - 0 213 AGGTCTTGTCGATACCAGAAC 0.493000 63 99 0 0 1 0 0 SLC6A5 9152 broad.mit.edu 37 11 20649599 20649599 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr11:20649599C>T ENST00000525748.1 + 9 1742 c.1469C>T c.(1468-1470)tCt>tTt p.S490F NM_004211.3 NP_004202.2 Q9Y345 SC6A5_HUMAN solute carrier family 6 (neurotransmitter transporter), member 5 490 synaptic transmission integral to membrane|plasma membrane glycine:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 63 Glycine(DB00145) ACTCTCTCTTCTTACAACAAA 0.453000 16 54 0 0 1 0 0 ABCB5 340273 broad.mit.edu 37 7 20721258 20721258 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr7:20721258G>A ENST00000404938.2 + 15 2490 c.1838G>A c.(1837-1839)cGa>cAa p.R613Q ABCB5_ENST00000258738.6_Missense_Mutation_p.R168Q NM_001163941.1 NP_001157413.1 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 5 168 ABC transporter 2. regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1) 77 ATGGCAAAACGAGGTCTATAT 0.418000 23 48 0 0 1 0 0 TNS1 7145 broad.mit.edu 37 2 218712359 218712359 + Missense_Mutation SNP G G C TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr2:218712359G>C ENST00000171887.4 - 17 2958 c.2506C>G c.(2506-2508)Cca>Gca p.P836A TNS1_ENST00000419504.1_Missense_Mutation_p.P836A|TNS1_ENST00000430930.1_Missense_Mutation_p.P836A NM_022648.4 NP_072174.3 Q9HBL0 TENS1_HUMAN tensin 1 836 cytoplasm|cytoskeleton|focal adhesion actin binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) AGAGAGGCTGGGGGTTGCTGA 0.602000 80 12 0 0 1 0 0 OR5H6 79295 broad.mit.edu 37 3 97983531 97983531 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr3:97983531G>A ENST00000383696.2 + 1 444 c.403G>A c.(403-405)Gca>Aca p.A135T RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005479.1 NP_001005479.1 Q8NGV6 OR5H6_HUMAN olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene) 135 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 GGCAACAATGGCATATGATCG 0.368000 20 60 0 0 1 0 0 CCL7 6354 broad.mit.edu 37 17 32598218 32598218 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr17:32598218C>T ENST00000378569.2 + 2 200 c.130C>T c.(130-132)Cct>Tct p.P44S CCL7_ENST00000394630.3_Intron|CCL7_ENST00000394627.1_Silent_p.S61S|CCL7_ENST00000200307.4_Missense_Mutation_p.P54S NM_006273.2 NP_006264.2 P80098 CCL7_HUMAN chemokine (C-C motif) ligand 7 44 cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response|signal transduction extracellular space chemokine activity|heparin binding autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1) 7 Breast(3;0.00224) Breast(31;0.151)|Ovarian(249;0.17) BRCA - Breast invasive adenocarcinoma(366;0.155) TAAGAAAATCCCTAAGCAGAG 0.478000 21 62 0 0 1 0 0 SCAF1 58506 broad.mit.edu 37 19 50156274 50156274 + Silent SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr19:50156274C>T ENST00000360565.3 + 7 2752 c.2628C>T c.(2626-2628)ttC>ttT p.F876F NM_021228.2 NP_067051.2 Q9H7N4 SFR19_HUMAN SR-related CTD-associated factor 1 876 mRNA processing|RNA splicing nucleus RNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 20 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204) GCTCCCCCTTCCTCAAACCTG 0.647000 15 28 0 0 1 0 0 CAGE1 285782 broad.mit.edu 37 6 7355291 7355291 + Silent SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr6:7355291G>A ENST00000502583.1 - 11 2916 c.2352C>T c.(2350-2352)tcC>tcT p.S784S CAGE1_ENST00000338150.4_Silent_p.S749S|CAGE1_ENST00000296742.7_Silent_p.S586S|CAGE1_ENST00000512086.1_Silent_p.S722S|CAGE1_ENST00000379918.4_Silent_p.S762S NM_001170692.1 NP_001164163.1 Q8TC20 CAGE1_HUMAN cancer antigen 1 722 breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1) 19 Ovarian(93;0.0418) TCTGGGAGTGGGATATTGCAA 0.294000 24 45 0 0 1 0 0 CCDC37 348807 broad.mit.edu 37 3 126135159 126135159 + Splice_Site SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr3:126135159G>A ENST00000393425.1 + 5 325 c.225_splice c.e5-1 p.E76_splice CCDC37_ENST00000505024.1_Splice_Site_p.E76_splice|CCDC37_ENST00000352312.1_Splice_Site_p.E76_splice Q494V2 CCD37_HUMAN coiled-coil domain containing 37 76 NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3) 23 GBM - Glioblastoma multiforme(114;0.166) ACGCCCCCAGGAACGGCAGCA 0.697000 23 25 0 0 1 0 0 PCDHA5 56143 broad.mit.edu 37 5 140202563 140202563 + Silent SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr5:140202563G>A ENST00000529859.1 + 1 1203 c.1203G>A c.(1201-1203)aaG>aaA p.K401K PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000378126.3_Silent_p.K401K|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Silent_p.K401K|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron NM_018908.2 NP_061731.1 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCACCTTCAAGAATTACTACT 0.617000 65 60 0 0 1 0 0 NUTM2B-AS1 101060691 broad.mit.edu 37 10 81442945 81442945 + RNA SNP G G C TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr10:81442945G>C ENST00000600376.1 - 0 54 RP11-119F19.2_ENST00000596088.1_RNA CAGGCATGTGGAACCCGAGAA 0.647000 8 10 0 0 1 0 0 UVRAG 7405 broad.mit.edu 37 11 75852428 75852428 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr11:75852428C>T ENST00000356136.3 + 15 2312 c.2071C>T c.(2071-2073)Cgc>Tgc p.R691C UVRAG_ENST00000538870.1_Missense_Mutation_p.R247C|UVRAG_ENST00000539288.1_Missense_Mutation_p.R319C|UVRAG_ENST00000528420.1_Missense_Mutation_p.R590C|UVRAG_ENST00000532130.1_Missense_Mutation_p.R319C|UVRAG_ENST00000531818.1_Missense_Mutation_p.R319C|UVRAG_ENST00000533454.1_Missense_Mutation_p.R319C NM_003369.3 NP_003360.2 Q9P2Y5 UVRAG_HUMAN UV radiation resistance associated 691 DNA repair|positive regulation of autophagy early endosome|late endosome|lysosome protein binding central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2) 32 ATCCAGCTTCCGCCGGCCGCG 0.507000 26 53 0 0 1 0 0 TLL1 7092 broad.mit.edu 37 4 166996050 166996050 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr4:166996050G>A ENST00000061240.2 + 17 2856 c.2209G>A c.(2209-2211)Gat>Aat p.D737N TLL1_ENST00000507499.1_Missense_Mutation_p.D760N NM_012464.4 NP_036596.3 O43897 TLL1_HUMAN tolloid-like 1 737 EGF-like 2; calcium-binding (Potential). cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) ATGCTCTAAGGATAATGGTGG 0.388000 34 53 0 0 1 0 0 ACAN 176 broad.mit.edu 37 15 89388803 89388803 + Silent SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr15:89388803G>A ENST00000439576.2 + 7 1493 c.1119G>A c.(1117-1119)caG>caA p.Q373Q ACAN_ENST00000561243.1_Silent_p.Q373Q|ACAN_ENST00000559004.1_Silent_p.Q373Q|ACAN_ENST00000558207.1_Silent_p.Q373Q|ACAN_ENST00000352105.7_Silent_p.Q373Q NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 373 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) TCACCGTCCAGACAGTGACCT 0.557000 26 47 0 0 1 0 0 CYP2C9 1559 broad.mit.edu 37 10 96741038 96741038 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr10:96741038G>A ENST00000260682.6 + 7 1072 c.1060G>A c.(1060-1062)Gag>Aag p.E354K NM_000771.3 NP_000762.2 P11712 CP2C9_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 9 354 exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 Colorectal(252;0.0902) all cancers(201;6.93e-05) Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744) TGTGGTGCACGAGGTCCAGAG 0.502000 62 86 0 0 1 0 0 KIAA0319 9856 broad.mit.edu 37 6 24559339 24559339 + Missense_Mutation SNP A A C TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr6:24559339A>C ENST00000535378.1 - 18 3251 c.2609T>G c.(2608-2610)gTt>gGt p.V870G KIAA0319_ENST00000543707.1_Missense_Mutation_p.V879G|KIAA0319_ENST00000537886.1_Missense_Mutation_p.V879G|KIAA0319_ENST00000378214.3_Missense_Mutation_p.V879G|KIAA0319_ENST00000430948.2_Missense_Mutation_p.V834G NM_001168374.1 NP_001161846.1 Q5VV43 K0319_HUMAN KIAA0319 879 negative regulation of dendrite development|neuron migration early endosome membrane|integral to membrane|plasma membrane protein binding breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 53 AGCTTTGAGAACCTTGAAAGG 0.502000 6 31 0 0 1 0 0 CMYA5 202333 broad.mit.edu 37 5 79032663 79032663 + Missense_Mutation SNP A A G TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr5:79032663A>G ENST00000446378.2 + 2 8106 c.8075A>G c.(8074-8076)gAa>gGa p.E2692G NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 2692 perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) ATCACAAAAGAAACTGTGAAA 0.398000 3 22 0 0 1 0 0 ZNF524 147807 broad.mit.edu 37 19 56114158 56114158 + Missense_Mutation SNP T T C TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr19:56114158T>C ENST00000591046.1 + 1 914 c.680T>C c.(679-681)gTa>gCa p.V227A ZNF524_ENST00000301073.3_Missense_Mutation_p.V227A Q96C55 ZN524_HUMAN zinc finger protein 524 227 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|large_intestine(2)|lung(6)|prostate(1) 10 BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.105) GCCATGGGGGTACCCCTGTGT 0.687000 8 23 0 0 1 0 0 KIF5A 3798 broad.mit.edu 37 12 57963426 57963426 + Silent SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr12:57963426G>A ENST00000455537.2 + 11 1351 c.1077G>A c.(1075-1077)acG>acA p.T359T KIF5A_ENST00000286452.5_Silent_p.T270T NM_004984.2 NP_004975.2 Q12840 KIF5A_HUMAN kinesin family member 5A 359 blood coagulation|cell death|microtubule-based movement|synaptic transmission cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm ATP binding|microtubule motor activity breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2) 62 agaaggagaCGATTGCGAAGC 0.527000 17 45 0 0 1 0 0 MANEA 79694 broad.mit.edu 37 6 96034467 96034467 + Missense_Mutation SNP G G A rs148222739 TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr6:96034467G>A ENST00000358812.4 + 2 286 c.152G>A c.(151-153)cGa>cAa p.R51Q MANEA_ENST00000369293.1_Missense_Mutation_p.R51Q NM_024641.3 NP_078917.2 Q5SRI9 MANEA_HUMAN mannosidase, endo-alpha 51 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane glycoprotein endo-alpha-1,2-mannosidase activity breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341) BRCA - Breast invasive adenocarcinoma(108;0.148) CTTCATCAACGAACTATTCAT 0.333000 35 15 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9069397 9069397 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr19:9069397C>T ENST00000397910.4 - 3 18252 c.18049G>A c.(18049-18051)Ggg>Agg p.G6017R NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 6019 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding 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 TTGGTGGTCCCCATATTGGTT 0.453000 76 155 0 0 1 0 0 F13B 2165 broad.mit.edu 37 1 197026490 197026490 + Missense_Mutation SNP A A G TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr1:197026490A>G ENST00000367412.1 - 6 954 c.911T>C c.(910-912)cTt>cCt p.L304P NM_001994.2 NP_001985.2 P05160 F13B_HUMAN coagulation factor XIII, B polypeptide 304 Sushi 5. blood coagulation extracellular region breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 66 CTCAAAATTAAGTTCACATTC 0.383000 34 51 0 0 1 0 0 SORBS1 10580 broad.mit.edu 37 10 97097017 97097017 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr10:97097017G>A ENST00000371247.2 - 30 3089 c.2900C>T c.(2899-2901)cCc>cTc p.P967L SORBS1_ENST00000371246.2_Intron|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000353505.5_Intron|SORBS1_ENST00000361941.3_Missense_Mutation_p.P967L|SORBS1_ENST00000371245.3_Intron|SORBS1_ENST00000393949.1_Intron|SORBS1_ENST00000371227.4_Missense_Mutation_p.P921L|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000354106.3_Intron|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000277982.5_Intron Q9BX66 SRBS1_HUMAN sorbin and SH3 domain containing 1 967 focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens actin binding|insulin receptor binding|SH3/SH2 adaptor activity NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 42 Colorectal(252;0.0429) Epithelial(162;1.7e-06)|all cancers(201;6.52e-05) CAGAGATGAGGGGGCTGGCGT 0.532000 7 15 0 0 1 0 0 TTPA 7274 broad.mit.edu 37 8 63976827 63976827 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr8:63976827C>T ENST00000260116.4 - 4 632 c.601G>A c.(601-603)Gta>Ata p.V201I TTPA_ENST00000521138.1_Intron NM_000370.3 NP_000361.1 P49638 TTPA_HUMAN tocopherol (alpha) transfer protein 201 CRAL-TRIO. lipid metabolic process transporter activity|vitamin E binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8) 15 Breast(64;0.0716) all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123) Vitamin E(DB00163) TGGAAAATTACTGGTTCATTT 0.308000 12 17 0 0 1 0 0 CYP4B1 1580 broad.mit.edu 37 1 47282778 47282778 + Missense_Mutation SNP T T C TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr1:47282778T>C ENST00000271153.4 + 9 1165 c.1129T>C c.(1129-1131)Tac>Cac p.Y377H CYP4B1_ENST00000371923.4_Missense_Mutation_p.Y378H|CYP4B1_ENST00000452782.2_Missense_Mutation_p.Y215H|CYP4B1_ENST00000371919.4_Missense_Mutation_p.Y363H P13584 CP4B1_HUMAN cytochrome P450, family 4, subfamily B, polypeptide 1 377 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 36 Acute lymphoblastic leukemia(166;0.155) CTTCCGCCTCTACCCACCTGT 0.557000 47 68 0 0 1 0 0 PTPRA 5786 broad.mit.edu 37 20 3016448 3016448 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr20:3016448C>T ENST00000216877.6 + 21 2432 c.2032C>T c.(2032-2034)Cgg>Tgg p.R678W PTPRA_ENST00000399903.2_Missense_Mutation_p.R687W|PTPRA_ENST00000358719.4_Missense_Mutation_p.R543W|PTPRA_ENST00000380393.3_Missense_Mutation_p.R687W|PTPRA_ENST00000425918.2_Missense_Mutation_p.R698W|PTPRA_ENST00000318266.5_Missense_Mutation_p.R678W|PTPRA_ENST00000356147.3_Missense_Mutation_p.R678W NM_080840.2 NP_543030.1 P18433 PTPRA_HUMAN protein tyrosine phosphatase, receptor type, A 687 Tyrosine-protein phosphatase 2. axon guidance|protein phosphorylation integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 GAATAAGAGCCGGCAGATCCG 0.577000 20 40 0 0 1 0 0 CFHR2 3080 broad.mit.edu 37 1 196918671 196918671 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr1:196918671G>A ENST00000367415.4 + 2 259 c.145G>A c.(145-147)Gaa>Aaa p.E49K CFHR2_ENST00000367421.3_Missense_Mutation_p.E49K|CFHR2_ENST00000476712.1_3'UTR NM_005666.2 NP_005657.1 P36980 FHR2_HUMAN complement factor H-related 2 49 Sushi 1. extracellular region large_intestine(2)|ovary(1)|skin(3) 6 TCCTACAGGGGAAGTTTTCTA 0.363000 18 29 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25490679 25490679 + RNA SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr15:25490679C>T ENST00000453082.2 + 0 2719 SNORD115-41_ENST00000363608.1_RNA NR_003343.1 ACTTAAAAATCATGCTCAATA 0.498000 179 232 0 0 1 0 0 ZMYM3 9203 broad.mit.edu 37 X 70470392 70470392 + Silent SNP C C A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chrX:70470392C>A ENST00000373998.1 - 5 1660 c.963G>T c.(961-963)ggG>ggT p.G321G ZMYM3_ENST00000373978.1_Intron|ZMYM3_ENST00000373988.1_Silent_p.G323G|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373981.1_Silent_p.G321G|ZMYM3_ENST00000373982.1_Silent_p.G323G|ZMYM3_ENST00000353904.2_Silent_p.G321G|ZMYM3_ENST00000373984.3_Silent_p.G323G|ZMYM3_ENST00000314425.5_Silent_p.G321G NM_001171162.1 NP_001164633.1 Q14202 ZMYM3_HUMAN zinc finger, MYM-type 3 321 multicellular organismal development nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(35;0.156) AGGCAGTCTGCCCCTTCTGCA 0.587000 10 3 1.58986e-06 1.60292e-06 1 1 0 PCLO 27445 broad.mit.edu 37 7 82784471 82784471 + Missense_Mutation SNP A A G TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr7:82784471A>G ENST00000423517.2 - 2 1823 c.1486T>C c.(1486-1488)Tca>Cca p.S496P PCLO_ENST00000333891.8_Missense_Mutation_p.S496P NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 442 10 X 10 AA tandem approximate repeats of P-A-K-P-Q-P-Q-Q-P-X.|Gln-rich.|Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity p.S496P(6)|p.?(3) breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GGCTTTGCTGAGCCAGGCTGT 0.607000 8 246 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62292039 62292039 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr11:62292039G>A ENST00000378024.4 - 5 10124 c.9850C>T c.(9850-9852)Cct>Tct p.P3284S AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 3284 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) TGCATGTCAGGCATCTTCAGT 0.428000 38 66 0 0 1 0 0 KCNU1 157855 broad.mit.edu 37 8 36644890 36644890 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr8:36644890C>T ENST00000399881.3 + 2 299 c.262C>T c.(262-264)Cgt>Tgt p.R88C NM_001031836.2 NP_001027006.2 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 88 voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1) 57 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) GGGACAATTTCGTGATCATAT 0.428000 6 11 0 0 1 0 0 OR14A16 284532 broad.mit.edu 37 1 247978451 247978451 + Missense_Mutation SNP T T A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr1:247978451T>A ENST00000357627.1 - 1 580 c.581A>T c.(580-582)gAa>gTa p.E194V NM_001001966.1 NP_001001966.1 Q8NHC5 O14AG_HUMAN olfactory receptor, family 14, subfamily A, member 16 194 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1) 45 GAGTGCAATTTCTCTTATTAA 0.378000 23 38 0 0 1 0 0 KIR3DL1 3811 broad.mit.edu 37 19 55333135 55333135 + Silent SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr19:55333135G>A ENST00000391728.4 + 5 804 c.771G>A c.(769-771)agG>agA p.R257R KIR3DL1_ENST00000538269.1_Silent_p.R257R|KIR3DL1_ENST00000541392.1_Silent_p.R257R|KIR3DL1_ENST00000402254.2_Silent_p.R257R|KIR3DL1_ENST00000326542.7_Silent_p.R257R|KIR3DL1_ENST00000358178.4_Silent_p.R162R NM_013289.2 NP_037421.2 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 11 GBM - Glioblastoma multiforme(193;0.0192) ATCTATCCAGGGAGGGGGGAG 0.612000 17 31 0 0 1 0 0 KIR3DL1 3811 broad.mit.edu 37 19 55333136 55333136 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr19:55333136G>A ENST00000391728.4 + 5 805 c.772G>A c.(772-774)Gag>Aag p.E258K KIR3DL1_ENST00000538269.1_Missense_Mutation_p.E258K|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.E258K|KIR3DL1_ENST00000402254.2_Missense_Mutation_p.E258K|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.E258K|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.E163K NM_013289.2 NP_037421.2 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 11 GBM - Glioblastoma multiforme(193;0.0192) TCTATCCAGGGAGGGGGGAGC 0.607000 17 30 0 0 1 0 0 CTNNA3 29119 broad.mit.edu 37 10 68139018 68139018 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr10:68139018C>T ENST00000433211.1 - 12 1798 c.1624G>A c.(1624-1626)Ggc>Agc p.G542S CTNNA3_ENST00000373744.4_Missense_Mutation_p.G542S NM_013266.2 NP_037398.2 Q9UI47 CTNA3_HUMAN catenin (cadherin-associated protein), alpha 3 542 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 95 GCTGCCCGGCCTCTGATAGCA 0.473000 35 53 0 0 1 0 0 HPGDS 27306 broad.mit.edu 37 4 95239111 95239111 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr4:95239111G>A ENST00000295256.5 - 3 229 c.139C>T c.(139-141)Cca>Tca p.P47S HPGDS_ENST00000514774.1_5'UTR NM_014485.2 NP_055300.1 O60760 HPGDS_HUMAN hematopoietic prostaglandin D synthase 47 GST N-terminal. locomotory behavior|prostaglandin biosynthetic process|signal transduction cytoplasm|nucleus calcium ion binding|glutathione transferase activity|magnesium ion binding|prostaglandin-D synthase activity|protein homodimerization activity breast(1)|cervix(1)|lung(3)|ovary(1)|urinary_tract(1) 7 Glutathione(DB00143) TTTCCAAATGGGAGAGCTTAA 0.328000 13 26 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 71103196 71103196 + Missense_Mutation SNP G G A rs140028548 TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr16:71103196G>A ENST00000393567.2 - 14 2098 c.1948C>T c.(1948-1950)Cgc>Tgc p.R650C HYDIN_ENST00000321489.5_Missense_Mutation_p.R650C|HYDIN_ENST00000288168.10_Missense_Mutation_p.R667C|HYDIN_ENST00000393550.2_Missense_Mutation_p.R665C|HYDIN_ENST00000541601.1_Missense_Mutation_p.R667C|HYDIN_ENST00000448089.2_Missense_Mutation_p.R650C|HYDIN_ENST00000448691.1_Missense_Mutation_p.R650C|HYDIN_ENST00000538248.1_Missense_Mutation_p.R677C NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 650 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) CCCTGGGGGCGAATGGTGCCA 0.488000 33 47 0 0 1 0 0 C15orf39 56905 broad.mit.edu 37 15 75500581 75500581 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr15:75500581G>A ENST00000360639.2 + 2 2512 c.2192G>A c.(2191-2193)cGa>cAa p.R731Q C15orf39_ENST00000394987.4_Missense_Mutation_p.R731Q|C15orf39_ENST00000567617.1_Missense_Mutation_p.R731Q Q6ZRI6 CO039_HUMAN chromosome 15 open reading frame 39 731 autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 16 gctccggctcgagctcaggct 0.672000 11 9 0 0 1 0 0 EPB41L4B 54566 broad.mit.edu 37 9 111970230 111970230 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr9:111970230C>T ENST00000374566.3 - 18 2369 c.1852G>A c.(1852-1854)Gaa>Aaa p.E618K NM_019114.3 NP_061987.3 Q9H329 E41LB_HUMAN erythrocyte membrane protein band 4.1 like 4B 618 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|structural constituent of cytoskeleton NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GAAGCATTTTCCAACTGGGCT 0.453000 41 25 0 0 1 0 0 IGSF21 84966 broad.mit.edu 37 1 18702856 18702856 + Silent SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr1:18702856G>A ENST00000251296.1 + 7 1451 c.1068G>A c.(1066-1068)ggG>ggA p.G356G IGSF21_ENST00000473951.1_3'UTR NM_032880.4 NP_116269.3 Q96ID5 IGS21_HUMAN immunoglobin superfamily, member 21 356 Ig-like 2. extracellular region endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 40 Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157) CCCGGGTAGGGGACACAGTGA 0.587000 60 124 0 0 1 0 0 PARG 8505 broad.mit.edu 37 10 51093329 51093329 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr10:51093329C>T ENST00000402038.3 - 4 294 c.295G>A c.(295-297)Gca>Aca p.A99T NM_003631.2 NP_003622.2 Q86W56 PARG_HUMAN poly (ADP-ribose) glycohydrolase 584 carbohydrate metabolic process nucleus poly(ADP-ribose) glycohydrolase activity p.A584T(1) endometrium(5)|kidney(2)|lung(1)|ovary(2) 10 Epithelial(53;0.213) TGAGCTTCTGCTTCTTCAAGT 0.318000 6 67 0 0 1 0 0 ARHGEF15 22899 broad.mit.edu 37 17 8222094 8222094 + Silent SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr17:8222094G>A ENST00000361926.3 + 12 2009 c.1899G>A c.(1897-1899)cgG>cgA p.R633R ARHGEF15_ENST00000421050.1_Silent_p.R633R|ARHGEF15_ENST00000582060.1_3'UTR NM_173728.3 NP_776089.2 O94989 ARHGF_HUMAN Rho guanine nucleotide exchange factor (GEF) 15 633 negative regulation of synapse maturation|regulation of Rho protein signal transduction dendrite|intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1) 37 CCTGGTCACGGCGCCTGGAAT 0.667000 81 166 0 0 1 0 0 LRRC30 339291 broad.mit.edu 37 18 7231246 7231246 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr18:7231246G>A ENST00000383467.2 + 1 124 c.110G>A c.(109-111)gGa>gAa p.G37E NM_001105581.1 NP_001099051.1 A6NM36 LRC30_HUMAN leucine rich repeat containing 30 37 central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3) 31 CTGCTCTCGGGAAGGGACCCG 0.612000 23 52 0 0 1 0 0 ZNF585B 92285 broad.mit.edu 37 19 37677079 37677079 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr19:37677079G>A ENST00000532828.2 - 5 1611 c.1360C>T c.(1360-1362)Cat>Tat p.H454Y ZNF585B_ENST00000531805.1_Missense_Mutation_p.H399Y|ZNF585B_ENST00000527838.1_3'UTR|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000312908.5_Missense_Mutation_p.H42Y NM_152279.3 NP_689492.3 Q52M93 Z585B_HUMAN zinc finger protein 585B 454 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1) 29 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TTATGAACATGGAGTTGTGAC 0.393000 46 62 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124267782 124267782 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr12:124267782G>A ENST00000409039.3 + 7 812 c.787G>A c.(787-789)Gtt>Att p.V263I NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 263 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) ATCCACAGCGGTTGAGGCCCA 0.547000 21 42 0 0 1 0 0 CNTNAP2 26047 broad.mit.edu 37 7 147600754 147600754 + Silent SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr7:147600754C>T ENST00000361727.3 + 14 2712 c.2196C>T c.(2194-2196)atC>atT p.I732I NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 732 Fibrinogen C-terminal. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding p.I732I(2) NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) CCTGCGGCATCGAACGCAACT 0.572000 HNSCC(39;0.1) 14 13 0 0 1 0 0 ZNF513 130557 broad.mit.edu 37 2 27600690 27600690 + Missense_Mutation SNP T T C TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr2:27600690T>C ENST00000323703.6 - 4 1546 c.1348A>G c.(1348-1350)Aac>Gac p.N450D ZNF513_ENST00000407879.1_Missense_Mutation_p.N388D|ZNF513_ENST00000491924.1_5'UTR NM_144631.5 NP_653232.3 Q8N8E2 ZN513_HUMAN zinc finger protein 513 450 regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception nucleus transcription regulatory region DNA binding|zinc ion binding endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2) 17 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CAGCTGTAGTTGCAAAGGCTA 0.577000 222 54 0 0 1 0 0 STYXL1 51657 broad.mit.edu 37 7 75625831 75625831 + Silent SNP A A G TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr7:75625831A>G ENST00000248600.1 - 9 1239 c.897T>C c.(895-897)acT>acC p.T299T STYXL1_ENST00000360591.3_3'UTR|STYXL1_ENST00000340062.5_Silent_p.T203T|STYXL1_ENST00000431581.1_Silent_p.T299T|STYXL1_ENST00000359697.3_Silent_p.T299T NM_016086.2 NP_057170.1 Q9Y6J8 STYL1_HUMAN serine/threonine/tyrosine interacting-like 1 299 Tyrosine-protein phosphatase. intracellular signal transduction|protein dephosphorylation intracellular protein binding|protein tyrosine/serine/threonine phosphatase activity endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1) 10 CTCCAAGGATAGTCTTCTCCC 0.498000 20 30 0 0 1 0 0 PIGO 84720 broad.mit.edu 37 9 35092254 35092254 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr9:35092254G>A ENST00000378617.3 - 7 2024 c.1630C>T c.(1630-1632)Ccc>Tcc p.P544S PIGO_ENST00000298004.5_Intron|PIGO_ENST00000341666.3_Missense_Mutation_p.P544S|PIGO_ENST00000361778.2_Intron NM_032634.3 NP_116023.2 Q8TEQ8 PIGO_HUMAN phosphatidylinositol glycan anchor biosynthesis, class O 544 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane transferase activity endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3) 38 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) CCAGGGATGGGAAACAGGGTT 0.577000 28 14 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82595633 82595633 + Silent SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr7:82595633C>T ENST00000423517.2 - 4 3808 c.3471G>A c.(3469-3471)gtG>gtA p.V1157V PCLO_ENST00000333891.8_Silent_p.V1157V NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 1096 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 CTTGCTTTTTCACTAATTTTA 0.398000 22 30 0 0 1 0 0 CPT1C 126129 broad.mit.edu 37 19 50214046 50214046 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr19:50214046G>A ENST00000392518.4 + 16 2170 c.1798G>A c.(1798-1800)Gag>Aag p.E600K CPT1C_ENST00000323446.5_Missense_Mutation_p.E600K|CPT1C_ENST00000405931.2_Missense_Mutation_p.E589K|CPT1C_ENST00000598293.1_Missense_Mutation_p.E600K|CPT1C_ENST00000354199.5_Missense_Mutation_p.E600K NM_001199752.1 NP_001186681.1 Q8TCG5 CPT1C_HUMAN carnitine palmitoyltransferase 1C 600 fatty acid metabolic process integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786) AGGCCGGACGGAGACGGTGCG 0.587000 32 17 0 0 1 0 0 CDH6 1004 broad.mit.edu 37 5 31316359 31316359 + Silent SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr5:31316359C>T ENST00000265071.2 + 9 1700 c.1435C>T c.(1435-1437)Cta>Tta p.L479L CDH6_ENST00000514738.1_Silent_p.L424L NM_004932.3 NP_004923.1 P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 479 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 TATTAAAGTTCTAGATGTCAA 0.353000 15 22 0 0 1 0 0 APP 351 broad.mit.edu 37 21 27254055 27254055 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr21:27254055G>A ENST00000358918.3 - 17 2384 c.2185C>T c.(2185-2187)Cgc>Tgc p.R729C APP_ENST00000359726.3_Missense_Mutation_p.R691C|APP_ENST00000354192.3_Missense_Mutation_p.R616C|APP_ENST00000348990.5_Missense_Mutation_p.R672C|APP_ENST00000448388.2_Missense_Mutation_p.R637C|APP_ENST00000346798.3_Missense_Mutation_p.R747C|APP_ENST00000440126.3_Missense_Mutation_p.R723C|APP_ENST00000439274.2_Missense_Mutation_p.R691C|APP_ENST00000357903.3_Missense_Mutation_p.R728C NM_001204301.1|NM_001204302.1 NP_001191230.1|NP_001191231.1 P05067 A4_HUMAN amyloid beta (A4) precursor protein 747 adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 22 Breast(209;0.00295) GACAGGTGGCGCTCCTCTGGG 0.478000 OREG0026148 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 33 59 0 0 1 0 0 RAG2 5897 broad.mit.edu 37 11 36614779 36614779 + Missense_Mutation SNP T T A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr11:36614779T>A ENST00000311485.3 - 2 1101 c.940A>T c.(940-942)Agc>Tgc p.S314C NM_000536.3|NM_001243785.1|NM_001243786.1 NP_000527.2|NP_001230714.1|NP_001230715.1 P55895 RAG2_HUMAN recombination activating gene 2 314 chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination nucleus chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4) 32 all_lung(20;0.226) all_hematologic(20;0.00756) CATATCTTGCTGTGCTTAATG 0.378000 Familial Hemophagocytic Lymphohistiocytosis 68 106 0 0 1 0 0 LRRC15 131578 broad.mit.edu 37 3 194080037 194080037 + Missense_Mutation SNP T T A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr3:194080037T>A ENST00000347624.3 - 2 1821 c.1736A>T c.(1735-1737)aAt>aTt p.N579I LRRC15_ENST00000439944.2_Missense_Mutation_p.N585I|LRRC15_ENST00000428839.1_Missense_Mutation_p.N585I NM_130830.4 NP_570843.2 Q8TF66 LRC15_HUMAN leucine rich repeat containing 15 579 integral to membrane biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.94e-05) TTAACACTCATTGGGTGCCTT 0.587000 35 40 0 0 1 0 0 PCDH17 27253 broad.mit.edu 37 13 58299218 58299218 + Silent SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr13:58299218C>T ENST00000377918.3 + 4 3296 c.3270C>T c.(3268-3270)ttC>ttT p.F1090F NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 1090 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) ACCCTCCCTTCATGGCTTCCG 0.532000 106 32 0 0 1 0 0 OR2B11 127623 broad.mit.edu 37 1 247614943 247614943 + Silent SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr1:247614943C>T ENST00000318749.6 - 1 365 c.342G>A c.(340-342)acG>acA p.T114T NM_001004492.1 NP_001004492.1 Q5JQS5 OR2BB_HUMAN olfactory receptor, family 2, subfamily B, member 11 114 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 60 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.241) OV - Ovarian serous cystadenocarcinoma(106;0.0188) CGATGCACTCCGTGCATCCCA 0.597000 62 63 0 0 1 0 0 ANO9 338440 broad.mit.edu 37 11 428479 428479 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr11:428479G>A ENST00000332826.6 - 13 1265 c.1181C>T c.(1180-1182)aCc>aTc p.T394I NM_001012302.2 NP_001012302.2 A1A5B4 ANO9_HUMAN anoctamin 9 394 chloride channel complex chloride channel activity central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4) 21 CCCCACCTTGGTCATGATGAT 0.672000 23 61 0 0 1 0 0 GRAMD1B 57476 broad.mit.edu 37 11 123484182 123484182 + Silent SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr11:123484182G>A ENST00000529750.1 + 15 1941 c.1614G>A c.(1612-1614)acG>acA p.T538T GRAMD1B_ENST00000456860.2_Silent_p.T545T|GRAMD1B_ENST00000322282.7_Silent_p.T538T|GRAMD1B_ENST00000450171.2_Silent_p.T229T NM_020716.1 NP_065767.1 Q3KR37 GRM1B_HUMAN GRAM domain containing 1B 538 integral to membrane NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 30 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394) TGGCCAAAACGGAGAGCACTT 0.537000 11 11 0 0 1 0 0 FAM135B 51059 broad.mit.edu 37 8 139160865 139160865 + Missense_Mutation SNP A A C TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr8:139160865A>C ENST00000395297.1 - 14 3516 c.3346T>G c.(3346-3348)Tta>Gta p.L1116V NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 1116 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) AGTACAGTTAAGTCACTGTAC 0.378000 HNSCC(54;0.14) 19 28 0 0 1 0 0 IGHV2-5 28457 broad.mit.edu 37 14 106494263 106494263 + RNA SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr14:106494263C>T ENST00000390597.2 - 0 248 TAGCGCTTATCATCATTCCAA 0.542000 38 62 0 0 1 0 0 PCDHB17P 54661 broad.mit.edu 37 5 140537213 140537213 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr5:140537213C>T ENST00000539533.1 + 1 1637 c.1637C>T c.(1636-1638)gCg>gTg p.A546V AGCAGCGAGGCGCTGGTGCGC 0.682000 53 34 0 0 1 0 0 KCNH1 3756 broad.mit.edu 37 1 211093366 211093366 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr1:211093366G>A ENST00000367007.4 - 7 1166 c.997C>T c.(997-999)Cgt>Tgt p.R333C KCNH1_ENST00000271751.4_Missense_Mutation_p.R360C NM_002238.3|NM_172362.2 NP_002229.1|NP_758872.1 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 1 360 myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) CGCCCAAGACGGAGCAGCCGG 0.552000 44 64 0 0 1 0 0 SLC19A1 6573 broad.mit.edu 37 21 46957802 46957802 + Silent SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr21:46957802G>A ENST00000311124.4 - 2 224 c.72C>T c.(70-72)tcC>tcT p.S24S SLC19A1_ENST00000380010.4_Silent_p.S24S|SLC19A1_ENST00000567670.1_Silent_p.S24S NM_194255.2 NP_919231.1 P41440 S19A1_HUMAN solute carrier family 19 (folate transporter), member 1 24 folic acid metabolic process integral to plasma membrane|membrane fraction folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 10 Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172) GGTGCCGCCAGGACCGGAGCT 0.667000 5 11 0 0 1 0 0 GJC1 10052 broad.mit.edu 37 17 42882272 42882272 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr17:42882272G>A ENST00000426548.1 - 3 1183 c.914C>T c.(913-915)tCc>tTc p.S305F GJC1_ENST00000590758.1_Missense_Mutation_p.S305F|GJC1_ENST00000330514.4_Missense_Mutation_p.S305F|GJC1_ENST00000592524.1_Missense_Mutation_p.S305F NM_001080383.1|NM_005497.3 NP_001073852.1|NP_005488.2 P36383 CXG1_HUMAN gap junction protein, gamma 1, 45kDa 305 cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport connexon complex|integral to membrane NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1) 19 Prostate(33;0.0959) CTTAGCATTGGACAGTTCGGT 0.502000 62 108 0 0 1 0 0 DLG3 1741 broad.mit.edu 37 X 69674135 69674135 + Silent SNP A A G TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chrX:69674135A>G ENST00000194900.4 + 10 1769 c.1428A>G c.(1426-1428)tcA>tcG p.S476S DLG3-AS1_ENST00000431103.1_RNA|DLG3_ENST00000374355.3_Silent_p.S121S|DLG3_ENST00000374360.3_Silent_p.S458S|DLG3-AS1_ENST00000424211.1_RNA Q92796 DLG3_HUMAN discs, large homolog 3 (Drosophila) 458 axon guidance|negative regulation of cell proliferation|synaptic transmission plasma membrane guanylate kinase activity endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1) 22 Renal(35;0.156) CCGGCCAGTCAGTCACCATTG 0.517000 OREG0019854 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 19 0 0 1 0 0 SMAD2 4087 broad.mit.edu 37 18 45374899 45374899 + Nonsense_Mutation SNP A A C TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr18:45374899A>C ENST00000402690.2 - 8 1338 c.944T>G c.(943-945)tTa>tGa p.L315* SMAD2_ENST00000262160.6_Nonsense_Mutation_p.L315*|SMAD2_ENST00000591214.1_Nonsense_Mutation_p.L285*|SMAD2_ENST00000356825.4_Nonsense_Mutation_p.L285*|SMAD2_ENST00000586040.1_Nonsense_Mutation_p.L285* NM_001003652.3 NP_001003652.1 Q15796 SMAD2_HUMAN SMAD family member 2 315 MH2. anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis activin responsive factor complex|cytosol activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1) 43 ATTGGAGAGTAAACCTAAGCA 0.393000 40 56 0 0 1 0 0 KLHL24 54800 broad.mit.edu 37 3 183382784 183382784 + Missense_Mutation SNP A A T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr3:183382784A>T ENST00000454652.1 + 6 1567 c.1181A>T c.(1180-1182)aAt>aTt p.N394I KLHL24_ENST00000242810.6_Missense_Mutation_p.N394I|KLHL24_ENST00000476808.1_Missense_Mutation_p.N394I Q6TFL4 KLH24_HUMAN kelch-like family member 24 394 axon|cytoplasm|perikaryon NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 all_cancers(143;2.88e-10)|Ovarian(172;0.0303) all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22) GCCTCTCTCAATAAAGGCAGA 0.388000 40 62 0 0 1 0 0 ZNF391 346157 broad.mit.edu 37 6 27369105 27369105 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr6:27369105C>T ENST00000244576.4 + 3 1501 c.956C>T c.(955-957)tCc>tTc p.S319F NM_001076781.1 NP_001070249.1 Q9UJN7 ZN391_HUMAN zinc finger protein 391 319 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1) 21 CGAAGCTCATCCCTTATTATT 0.458000 26 49 0 0 1 0 0 ZMYM6 9204 broad.mit.edu 37 1 35452748 35452748 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr1:35452748G>A ENST00000357182.4 - 16 4162 c.3935C>T c.(3934-3936)tCt>tTt p.S1312F ZMYM6_ENST00000373340.2_Intron|ZMYM6_ENST00000487874.1_Intron|ZMYM6_ENST00000493328.1_5'UTR NM_007167.3 NP_009098.3 O95789 ZMYM6_HUMAN zinc finger, MYM-type 6 1312 multicellular organismal development nucleus DNA binding|zinc ion binding breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1) 44 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13) TGGAATTAAAGATGTGACTGC 0.363000 15 27 0 0 1 0 0 UNC5B 219699 broad.mit.edu 37 10 73050720 73050720 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr10:73050720C>T ENST00000335350.6 + 9 1564 c.1148C>T c.(1147-1149)gCc>gTc p.A383V UNC5B_ENST00000373192.4_Missense_Mutation_p.A372V NM_170744.4 NP_734465.2 Q8IZJ1 UNC5B_HUMAN unc-5 homolog B (C. elegans) 383 apoptosis|axon guidance|regulation of apoptosis integral to membrane breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4) 49 CTCGTGGTGGCCATCTTCGTG 0.652000 96 165 0 0 1 0 0 ATP8A1 10396 broad.mit.edu 37 4 42627651 42627651 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr4:42627651G>A ENST00000381668.5 - 3 475 c.244C>T c.(244-246)Ctc>Ttc p.L82F ATP8A1_ENST00000264449.10_Missense_Mutation_p.L82F|ATP8A1_ENST00000510289.1_3'UTR NM_006095.2 NP_006086.1 Q9Y2Q0 AT8A1_HUMAN ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 82 ATP biosynthetic process chromaffin granule membrane|integral to membrane|plasma membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Phosphatidylserine(DB00144) GCAATAAAGAGAAAAAATGAA 0.363000 18 36 0 0 1 0 0 SDHA 6389 broad.mit.edu 37 5 228396 228396 + Missense_Mutation SNP G G C rs1041946 TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr5:228396G>C ENST00000264932.6 + 6 833 c.718G>C c.(718-720)Gag>Cag p.E240Q SDHA_ENST00000510361.1_Missense_Mutation_p.E192Q|SDHA_ENST00000504309.1_Missense_Mutation_p.E240Q NM_004168.2 NP_004159.2 P31040 DHSA_HUMAN succinate dehydrogenase complex, subunit A, flavoprotein (Fp) 240 E -> Q (in dbSNP:rs1041946). nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle mitochondrial respiratory chain complex II electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity p.E240Q(2) NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 40 Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113) Succinic acid(DB00139) ACTGTGCATAGAGGACGGGTC 0.418000 Familial Paragangliomas 3 68 0 0 1 0 0 THPO 7066 broad.mit.edu 37 3 184090874 184090874 + Silent SNP C C G TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr3:184090874C>G ENST00000204615.7 - 6 703 c.489G>C c.(487-489)ctG>ctC p.L163L THPO_ENST00000421442.2_Intron|THPO_ENST00000477594.1_Intron|EIF2B5_ENST00000444495.1_Intron|THPO_ENST00000445696.2_Silent_p.L159L NM_000460.2|NM_001177597.1|NM_001177598.1 NP_000451.1|NP_001171068.1|NP_001171069.1 P40225 TPO_HUMAN thrombopoietin 163 cell proliferation|platelet activation extracellular space cytokine activity|growth factor activity|hormone activity NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1) 16 all_cancers(143;6.33e-11)|Ovarian(172;0.0339) Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CTACAAGCATCAGGAAACGCA 0.602000 30 53 0 0 1 0 0 PARD3 56288 broad.mit.edu 37 10 34400461 34400461 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr10:34400461G>A ENST00000374789.3 - 25 4032 c.3707C>T c.(3706-3708)tCc>tTc p.S1236F PARD3_ENST00000350537.4_Missense_Mutation_p.S1190F|PARD3_ENST00000346874.4_Missense_Mutation_p.S1199F|PARD3_ENST00000374788.3_Missense_Mutation_p.S1233F|PARD3_ENST00000545260.1_Missense_Mutation_p.S1146F|PARD3_ENST00000374794.3_Missense_Mutation_p.S1124F|PARD3_ENST00000374790.3_Missense_Mutation_p.S1176F|PARD3_ENST00000545693.1_Missense_Mutation_p.S1220F NM_019619.3 NP_062565.2 Q8TEW0 PARD3_HUMAN par-3 family cell polarity regulator 1236 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 63 Breast(68;0.0707) AGAGTCCTGGGAGACCGAGCT 0.557000 33 50 0 0 1 0 0 CATSPERB 79820 broad.mit.edu 37 14 92054374 92054374 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr14:92054374G>A ENST00000256343.3 - 25 3161 c.3005C>T c.(3004-3006)cCa>cTa p.P1002L NM_024764.2 NP_079040.2 Q9H7T0 CTSRB_HUMAN catsper channel auxiliary subunit beta 1002 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2) 54 all_cancers(154;0.0663)|all_epithelial(191;0.236) ACCAAGAATTGGTTCTACTAA 0.294000 8 10 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196651860 196651860 + Silent SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr2:196651860G>A ENST00000312428.6 - 58 10852 c.10752C>T c.(10750-10752)ttC>ttT p.F3584F DNAH7_ENST00000409063.1_Silent_p.F67F NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3584 AAA 6 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 AAGCATGAAAGAAACACAGGC 0.378000 52 17 0 0 1 0 0 STRIP2 57464 broad.mit.edu 37 7 129091562 129091562 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr7:129091562C>T ENST00000249344.2 + 4 423 c.383C>T c.(382-384)gCc>gTc p.A128V STRIP2_ENST00000435494.2_Missense_Mutation_p.A128V NM_020704.2 NP_065755.1 striatin interacting protein 2 CTGAAGGTGGCCCGGGCTGTT 0.557000 16 36 0 0 1 0 0 ILDR1 286676 broad.mit.edu 37 3 121712024 121712024 + Silent SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr3:121712024C>T ENST00000273691.3 - 6 1545 c.1440G>A c.(1438-1440)agG>agA p.R480R ILDR1_ENST00000462014.1_Silent_p.R492R|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000393631.1_Silent_p.R435R|ILDR1_ENST00000344209.5_Silent_p.R524R NM_175924.3 NP_787120.1 Q86SU0 ILDR1_HUMAN immunoglobulin-like domain containing receptor 1 524 cytosol|integral to membrane|plasma membrane receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GBM - Glioblastoma multiforme(114;0.156) TCCCTTTTTTCCTGCTATTCT 0.647000 6 12 0 0 1 0 0 ZNF284 342909 broad.mit.edu 37 19 44591031 44591031 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr19:44591031C>T ENST00000421176.3 + 5 1616 c.1400C>T c.(1399-1401)gCc>gTc p.A467V ZNF223_ENST00000591793.1_3'UTR NM_001037813.2 NP_001032902.1 Q2VY69 ZN284_HUMAN zinc finger protein 284 467 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1) 15 Prostate(69;0.0435) TTCAGGTGGGCCTCAGGTATT 0.418000 26 36 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103354475 103354475 + Splice_Site SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr1:103354475C>T ENST00000358392.2 - 60 4818 c.4500_splice c.e60-1 p.G1501_splice COL11A1_ENST00000512756.1_Splice_Site_p.G1373_splice|COL11A1_ENST00000370096.3_Splice_Site_p.G1489_splice|COL11A1_ENST00000353414.4_Splice_Site_p.G1450_splice NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 1489 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) CCAGGAATTCCCTAGAGAGAG 0.368000 20 46 0 0 1 0 0 ANKRD11 29123 broad.mit.edu 37 16 89348950 89348950 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr16:89348950G>A ENST00000301030.4 - 9 4460 c.4000C>T c.(4000-4002)Ccg>Tcg p.P1334S ANKRD11_ENST00000378330.2_Missense_Mutation_p.P1334S NM_001256183.1|NM_013275.5 NP_001243112.1|NP_037407.4 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 1334 Lys-rich. nucleus breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) CTCTCCCTCGGCTTGTCGTCT 0.612000 28 41 0 0 1 0 0 SIAH2 6478 broad.mit.edu 37 3 150459987 150459987 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr3:150459987G>A ENST00000312960.3 - 2 1443 c.916C>T c.(916-918)Ctt>Ttt p.L306F NM_005067.5 NP_005058.3 O43255 SIAH2_HUMAN siah E3 ubiquitin protein ligase 2 306 SBD. apoptosis|axon guidance|cell cycle|negative regulation of canonical Wnt receptor signaling pathway|small GTPase mediated signal transduction|ubiquitin-dependent protein catabolic process cytosol|nucleus transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1) 16 LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) TCTGCAAAAAGATGTGCTATG 0.463000 24 47 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49420453 49420453 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr12:49420453C>T ENST00000301067.7 - 48 15295 c.15296G>A c.(15295-15297)gGt>gAt p.G5099D NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D GCTGGTGGCACCAGTTCGCTG 0.572000 31 46 0 0 1 0 0 CCRN4L 25819 broad.mit.edu 37 4 139965951 139965951 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr4:139965951C>T ENST00000280614.2 + 3 812 c.619C>T c.(619-621)Ctc>Ttc p.L207F ELF2_ENST00000515489.1_Intron NM_012118.2 NP_036250.2 Q9UK39 NOCT_HUMAN CCR4 carbon catabolite repression 4-like (S. cerevisiae) 207 rhythmic process|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity kidney(2)|large_intestine(3)|lung(3)|ovary(1) 9 all_hematologic(180;0.162) CCAGCCACTCCTCAGTAGACT 0.463000 26 53 0 0 1 0 0 COL11A2 1302 broad.mit.edu 37 6 33144972 33144972 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr6:33144972G>A ENST00000341947.2 - 24 2229 c.2002C>T c.(2002-2004)Cct>Tct p.P668S COL11A2_ENST00000374713.1_Missense_Mutation_p.P621S|COL11A2_ENST00000395197.1_Missense_Mutation_p.P608S|COL11A2_ENST00000374714.1_Missense_Mutation_p.P642S|COL11A2_ENST00000374708.4_Missense_Mutation_p.P582S|COL11A2_ENST00000374712.1_Missense_Mutation_p.P587S|COL11A2_ENST00000361917.1_Missense_Mutation_p.P561S|COL11A2_ENST00000357486.1_Missense_Mutation_p.P647S|COL11A2_ENST00000477772.1_5'UTR NM_080680.2 NP_542411.2 P13942 COBA2_HUMAN collagen, type XI, alpha 2 668 Triple-helical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 TCTCCATGAGGGCCGATGGCA 0.547000 23 41 0 0 1 0 0 FBLN5 10516 broad.mit.edu 37 14 92406930 92406930 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr14:92406930G>A ENST00000267620.10 - 3 272 c.103C>T c.(103-105)Cgc>Tgc p.R35C FBLN5_ENST00000556154.1_Missense_Mutation_p.R40C|FBLN5_ENST00000342058.4_Missense_Mutation_p.R35C Q9UBX5 FBLN5_HUMAN fibulin 5 35 cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals extracellular space|proteinaceous extracellular matrix|soluble fraction calcium ion binding|integrin binding|protein C-terminus binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 28 all_cancers(154;0.0722) CCTGACTGGCGATCCAGGTCA 0.483000 11 24 0 0 1 0 0 BCS1L 617 broad.mit.edu 37 2 219527664 219527664 + Silent SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr2:219527664G>A ENST00000431802.1 + 7 1647 c.948G>A c.(946-948)ttG>ttA p.L316L BCS1L_ENST00000392110.2_Silent_p.L316L|BCS1L_ENST00000465706.1_3'UTR|BCS1L_ENST00000439945.1_Silent_p.L316L|BCS1L_ENST00000392111.2_Silent_p.L316L|BCS1L_ENST00000392109.1_Silent_p.L316L|BCS1L_ENST00000412366.1_Silent_p.L316L|BCS1L_ENST00000359273.3_Silent_p.L316L Q9Y276 BCS1_HUMAN BC1 (ubiquinol-cytochrome c reductase) synthesis-like 316 mitochondrial respiratory chain complex I assembly|mitochondrial respiratory chain complex III assembly|mitochondrial respiratory chain complex IV assembly integral to membrane|mitochondrial respiratory chain complex III ATP binding|nucleoside-triphosphatase activity|protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1) 8 Renal(207;0.0474) Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TCAATGCCTTGGATGGTGTGG 0.552000 113 29 0 0 1 0 0 CER1 9350 broad.mit.edu 37 9 14722355 14722355 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr9:14722355G>A ENST00000380911.3 - 1 360 c.316C>T c.(316-318)Cca>Tca p.P106S NM_005454.2 NP_005445.1 O95813 CER1_HUMAN cerberus 1, DAN family BMP antagonist 106 BMP signaling pathway extracellular space cytokine activity endometrium(2)|large_intestine(3)|lung(6) 11 GBM - Glioblastoma multiforme(50;3.16e-06) GTCCCAGGTGGGAAGGGCTCA 0.507000 29 17 0 0 1 0 0 RASGEF1C 255426 broad.mit.edu 37 5 179564880 179564880 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr5:179564880G>A ENST00000393371.2 - 1 469 c.173C>T c.(172-174)cCc>cTc p.P58L RASGEF1C_ENST00000361132.4_Missense_Mutation_p.P58L Q8N431 RGF1C_HUMAN RasGEF domain family, member 1C 58 N-terminal Ras-GEF. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1) 12 all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137) all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) ACCCACCTCGGGGTAGTAGTC 0.672000 14 8 0 0 1 0 0 STAB1 23166 broad.mit.edu 37 3 52539134 52539134 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr3:52539134C>T ENST00000321725.6 + 13 1569 c.1493C>T c.(1492-1494)cCc>cTc p.P498L NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 498 cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) TGGCAGGCCCCCTCTGGGACC 0.612000 64 28 0 0 1 0 0 NCBP1 4686 broad.mit.edu 37 9 100405573 100405573 + Silent SNP T T C TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr9:100405573T>C ENST00000375147.3 + 4 568 c.312T>C c.(310-312)ttT>ttC p.F104F NM_002486.4 NP_002477.1 Q09161 NCBP1_HUMAN nuclear cap binding protein subunit 1, 80kDa 104 MIF4G. gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex protein binding|RNA cap binding NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4) 19 Acute lymphoblastic leukemia(62;0.158) GTGGAGAATTTGTAGAAGCCA 0.343000 40 24 0 0 1 0 0 GLYATL1 92292 broad.mit.edu 37 11 58722282 58722282 + Missense_Mutation SNP C C T rs151204927 TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr11:58722282C>T ENST00000300079.5 + 5 369 c.319C>T c.(319-321)Cgt>Tgt p.R107C GLYATL1_ENST00000317391.4_Missense_Mutation_p.R76C|RP11-142C4.6_ENST00000533954.1_RNA NM_001220496.1|NM_080661.3 NP_001207425.1|NP_542392.2 Q969I3 GLYL1_HUMAN glycine-N-acyltransferase-like 1 76 mitochondrion glycine N-acyltransferase activity NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1) 34 Glycine(DB00145) AAACGTATATCGTATGTTCTC 0.383000 26 52 0 0 1 0 0 ZNF462 58499 broad.mit.edu 37 9 109689832 109689832 + Silent SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr9:109689832G>A ENST00000277225.5 + 3 3928 c.3639G>A c.(3637-3639)caG>caA p.Q1213Q ZNF462_ENST00000457913.1_Silent_p.Q1213Q|ZNF462_ENST00000441147.2_Silent_p.Q58Q Q96JM2 ZN462_HUMAN zinc finger protein 462 1213 transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 TTCATTATCAGAAGAAGCACC 0.522000 225 102 0 0 1 0 0 TGM7 116179 broad.mit.edu 37 15 43584243 43584243 + Silent SNP T T A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr15:43584243T>A ENST00000452443.2 - 4 496 c.492A>T c.(490-492)cgA>cgT p.R164R NM_052955.2 NP_443187.1 Q96PF1 TGM7_HUMAN transglutaminase 7 164 peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1) 39 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;9.14e-07) L-Glutamine(DB00130) AGCCATAATCTCGCATGATAT 0.493000 12 23 0 0 1 0 0 PLCB4 5332 broad.mit.edu 37 20 9416235 9416235 + Silent SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr20:9416235G>A ENST00000378501.2 + 25 2532 c.2517G>A c.(2515-2517)aaG>aaA p.K839K PLCB4_ENST00000334005.3_Silent_p.K839K|PLCB4_ENST00000278655.4_Silent_p.K839K|PLCB4_ENST00000378493.1_Silent_p.K839K|PLCB4_ENST00000378473.3_Silent_p.K851K|PLCB4_ENST00000414679.2_Silent_p.K851K|PLCB4_ENST00000492632.1_3'UTR NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 839 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity p.K839N(1) NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 CAGATCCAAAGAAATTTCTCT 0.363000 32 39 0 0 1 0 0 FAM90A1 55138 broad.mit.edu 37 12 8377426 8377426 + Translation_Start_Site SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr12:8377426C>T ENST00000538603.1 - 4 561 c.3G>A c.(1-3)atG>atA p.M1I FAM90A1_ENST00000307435.6_Start_Codon_SNP_p.M1I NM_018088.3 NP_060558.3 Q86YD7 F90A1_HUMAN family with sequence similarity 90, member A1 1 nucleic acid binding|zinc ion binding endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 25 Kidney(36;0.0866) GACGTGCCATCATCTTCGTCT 0.577000 9 18 0 0 1 0 0 C1orf159 54991 broad.mit.edu 37 1 1018301 1018301 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr1:1018301G>A ENST00000448924.1 - 11 1546 c.1115C>T c.(1114-1116)cCg>cTg p.P372L C1orf159_ENST00000379319.1_Missense_Mutation_p.P190L|C1orf159_ENST00000421241.2_Missense_Mutation_p.P190L|C1orf159_ENST00000294576.5_Missense_Mutation_p.P336L|C1orf159_ENST00000379339.1_Missense_Mutation_p.P372L|C1orf159_ENST00000379320.1_Missense_Mutation_p.P336L Q96HA4 CA159_HUMAN chromosome 1 open reading frame 159 372 integral to membrane 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;2.96e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.77e-22)|Colorectal(212;6.51e-05)|COAD - Colon adenocarcinoma(227;0.000214)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205) GGCCTCCCCCGGGAAGGCAGC 0.692000 5 9 0 0 1 0 0 JAK1 3716 broad.mit.edu 37 1 65332743 65332743 + Silent SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr1:65332743G>A ENST00000342505.4 - 7 1044 c.796C>T c.(796-798)Ctg>Ttg p.L266L NM_002227.2 NP_002218.2 P23458 JAK1_HUMAN Janus kinase 1 266 FERM. interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway cytoskeleton|cytosol|endomembrane system|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 BRCA - Breast invasive adenocarcinoma(111;0.0485) TTCACCTTCAGGTCATGCGTG 0.388000 Mis ALL 31 75 0 0 1 0 0 TGM7 116179 broad.mit.edu 37 15 43584242 43584242 + Missense_Mutation SNP C C A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr15:43584242C>A ENST00000452443.2 - 4 497 c.493G>T c.(493-495)Gat>Tat p.D165Y NM_052955.2 NP_443187.1 Q96PF1 TGM7_HUMAN transglutaminase 7 165 peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1) 39 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;9.14e-07) L-Glutamine(DB00130) AAGCCATAATCTCGCATGATA 0.498000 12 23 3.27435e-08 3.31758e-08 1 1 0 NSUN7 79730 broad.mit.edu 37 4 40776903 40776903 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr4:40776903C>T ENST00000381782.2 + 6 1256 c.761C>T c.(760-762)cCa>cTa p.P254L NSUN7_ENST00000316607.5_Missense_Mutation_p.P254L|NSUN7_ENST00000463952.1_3'UTR NM_024677.4 NP_078953.3 NOP2/Sun domain family, member 7 NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 12 TTAATTTTTCCATCTCATCTT 0.264000 12 21 0 0 1 0 0 PKD1L2 114780 broad.mit.edu 37 16 81180978 81180978 + RNA SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr16:81180978C>T ENST00000525539.1 - 0 5112 PKD1L2_ENST00000533478.1_RNA NM_052892.3 NP_443124.3 Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 AACACCTGCCCTGATGTGTTC 0.522000 70 80 0 0 1 0 0 PPP4R4 57718 broad.mit.edu 37 14 94725156 94725156 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr14:94725156G>A ENST00000304338.3 + 18 2201 c.2047G>A c.(2047-2049)Gat>Aat p.D683N NM_058237.1 NP_478144.1 Q6NUP7 PP4R4_HUMAN protein phosphatase 4, regulatory subunit 4 683 cytoplasm|protein serine/threonine phosphatase complex protein binding NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2) 40 AATGTCTATGGATGCTGTAAG 0.318000 14 8 0 0 1 0 0 SVIL 6840 broad.mit.edu 37 10 29812909 29812909 + Silent SNP T T A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr10:29812909T>A ENST00000375398.2 - 17 3083 c.2634A>T c.(2632-2634)tcA>tcT p.S878S SVIL_ENST00000355867.4_Silent_p.S878S|SVIL_ENST00000375400.3_Silent_p.S452S O95425 SVIL_HUMAN supervillin 878 cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 112 Breast(68;0.103) CGGTAGACACTGATGTGTTCA 0.438000 20 34 0 0 1 0 0 TRA2B 6434 broad.mit.edu 37 3 185643307 185643307 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr3:185643307C>T ENST00000453386.2 - 3 553 c.278G>A c.(277-279)cGg>cAg p.R93Q TRA2B_ENST00000382191.4_5'UTR NM_004593.2 NP_004584.1 P62995 TRA2B_HUMAN transformer 2 beta homolog (Drosophila) 93 Arg/Ser-rich (RS1 domain). nuclear mRNA splicing, via spliceosome nucleus nucleotide binding|protein binding|RNA binding breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1) 18 GTGGCTGTGCCGTCTACGATA 0.507000 44 46 0 0 1 0 0 KCNAB3 9196 broad.mit.edu 37 17 7827358 7827358 + Silent SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr17:7827358G>A ENST00000303790.2 - 11 854 c.855C>T c.(853-855)taC>taT p.Y285Y NM_004732.3 NP_004723.2 O43448 KCAB3_HUMAN potassium voltage-gated channel, shaker-related subfamily, beta member 3 285 cytoplasm|integral to membrane oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1) 8 Prostate(122;0.157) AGGCTAGAGGGTACCAAGTGA 0.542000 13 25 0 0 1 0 0 CACNA1A 773 broad.mit.edu 37 19 13419282 13419282 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr19:13419282C>T ENST00000360228.5 - 13 1728 c.1729G>A c.(1729-1731)Gga>Aga p.G577R CACNA1A_ENST00000573710.2_Missense_Mutation_p.G578R NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 578 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) ACGCTGATTCCAAAGGATGTG 0.502000 9 27 0 0 1 0 0 PTPRT 11122 broad.mit.edu 37 20 40827991 40827991 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr20:40827991C>T ENST00000373198.3 - 17 2681 c.2446G>A c.(2446-2448)Gcc>Acc p.A816T PTPRT_ENST00000373190.1_Missense_Mutation_p.A794T|PTPRT_ENST00000373193.3_Missense_Mutation_p.A797T|PTPRT_ENST00000356100.2_Missense_Mutation_p.A803T|PTPRT_ENST00000373187.1_Missense_Mutation_p.A794T|PTPRT_ENST00000373201.1_Missense_Mutation_p.A784T|PTPRT_ENST00000373184.1_Missense_Mutation_p.A784T NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 794 homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) TCCCTCTGGGCTCCACTCTGG 0.552000 4 205 0 0 1 0 0 LOC653786 653786 broad.mit.edu 37 16 22558351 22558351 + RNA SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr16:22558351G>A ENST00000550753.1 + 0 1333 NR_003676.2 TTTCTCAGGAGATGAATTAAG 0.423000 4 70 0 0 1 0 0 SVEP1 79987 broad.mit.edu 37 9 113169455 113169455 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr9:113169455C>T ENST00000401783.2 - 38 8761 c.8425G>A c.(8425-8427)Ggc>Agc p.G2809S SVEP1_ENST00000297826.5_Missense_Mutation_p.G735S|SVEP1_ENST00000374469.1_Missense_Mutation_p.G2786S NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 2809 Sushi 23. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 CTCTCAGTGCCATTCAGCACA 0.488000 11 72 0 0 1 0 0 ANO1 55107 broad.mit.edu 37 11 70007324 70007324 + Missense_Mutation SNP G G C TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr11:70007324G>C ENST00000355303.5 + 17 1941 c.1636G>C c.(1636-1638)Gcc>Ccc p.A546P ANO1_ENST00000398543.2_Missense_Mutation_p.A400P|ANO1_ENST00000531349.1_Missense_Mutation_p.A255P|ANO1_ENST00000530676.1_Missense_Mutation_p.A400P|ANO1_ENST00000538023.1_Missense_Mutation_p.A546P|ANO1_ENST00000316296.5_Missense_Mutation_p.A488P NM_018043.5 NP_060513.5 Q5XXA6 ANO1_HUMAN anoctamin 1, calcium activated chloride channel 546 multicellular organismal development chloride channel complex|cytoplasm|plasma membrane intracellular calcium activated chloride channel activity central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1) 29 CTCCATGGCCGCCGCCTTGGC 0.602000 33 28 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7724583 7724583 + Nonsense_Mutation SNP G G T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr17:7724583G>T ENST00000572933.1 + 73 12498 c.11038G>T c.(11038-11040)Gaa>Taa p.E3680* DNAH2_ENST00000389173.2_Nonsense_Mutation_p.E3680* Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 3680 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) TACCCTTTTCGAACGCCACAA 0.498000 49 87 8.28887e-21 8.48227e-21 1 1 0 DNAH10 196385 broad.mit.edu 37 12 124359953 124359953 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr12:124359953C>T ENST00000409039.3 + 46 7785 c.7760C>T c.(7759-7761)tCg>tTg p.S2587L NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 2587 AAA 3 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity p.S1179L(1)|p.S2587L(1) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) AGATTTATTTCGCTATTCAGT 0.443000 17 37 0 0 1 0 0 ADAM28 10863 broad.mit.edu 37 8 24193170 24193170 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr8:24193170C>T ENST00000437154.2 + 14 1622 c.1583C>T c.(1582-1584)cCt>cTt p.P528L ADAM28_ENST00000540823.1_Missense_Mutation_p.P295L|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000265769.4_Intron|ADAM28_ENST00000397649.3_Intron|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA NM_021777.3 NP_068547.2 Q9UKQ2 ADA28_HUMAN ADAM metallopeptidase domain 28 528 Cys-rich. proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) AGGACAAATCCTTTCCCCTGT 0.512000 5 4 0 0 1 0 0 CRY2 1408 broad.mit.edu 37 11 45868998 45868998 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr11:45868998C>T ENST00000443527.2 + 1 42 c.20C>T c.(19-21)gCc>gTc p.A7V CRY2_ENST00000417225.2_Intron NM_021117.3 NP_066940.2 Q49AN0 CRY2_HUMAN cryptochrome 2 (photolyase-like) 0 DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2) 15 GTCCACGTCGCCTACCGGGGC 0.731000 18 24 0 0 1 0 0 LAMA1 284217 broad.mit.edu 37 18 7009357 7009357 + Nonsense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr18:7009357C>T ENST00000389658.3 - 27 3975 c.3882G>A c.(3880-3882)tgG>tgA p.W1294* NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 1294 Laminin IV type A 2. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TAAAATATTTCCAAAAATTCT 0.343000 12 31 0 0 1 0 0 UNC93B1 81622 broad.mit.edu 37 11 67767085 67767085 + Missense_Mutation SNP T T C TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr11:67767085T>C ENST00000227471.2 - 4 537 c.458A>G c.(457-459)aAc>aGc p.N153S UNC93B1_ENST00000530331.1_5'UTR NM_030930.2 NP_112192.2 Q9H1C4 UN93B_HUMAN unc-93 homolog B1 (C. elegans) 153 innate immune response|intracellular protein transport|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 7 signaling pathway|toll-like receptor 9 signaling pathway early phagosome|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome CTCCCAGTAGTTGGTGGAGAC 0.582000 7 16 0 0 1 0 0 NT5DC2 64943 broad.mit.edu 37 3 52562323 52562323 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr3:52562323G>A ENST00000307076.4 - 6 936 c.536C>T c.(535-537)cCc>cTc p.P179L NT5DC2_ENST00000459839.1_Missense_Mutation_p.P191L|NT5DC2_ENST00000422318.2_Missense_Mutation_p.P216L|NT5DC2_ENST00000307092.4_Missense_Mutation_p.P120L NM_022908.2 NP_075059.1 Q9H857 NT5D2_HUMAN 5'-nucleotidase domain containing 2 179 hydrolase activity|metal ion binding endometrium(1)|lung(3)|prostate(1)|stomach(1) 6 BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476) CTTAATGGAGGGACCCTGGGG 0.582000 28 13 0 0 1 0 0 ZNF438 220929 broad.mit.edu 37 10 31137582 31137582 + Silent SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr10:31137582G>A ENST00000538351.1 - 7 2359 c.1605C>T c.(1603-1605)ggC>ggT p.G535G ZNF438_ENST00000442986.1_Silent_p.G584G|ZNF438_ENST00000375311.1_Silent_p.G148G|ZNF438_ENST00000413025.1_Silent_p.G584G|ZNF438_ENST00000331737.6_Silent_p.G574G|ZNF438_ENST00000452305.1_Silent_p.G574G|ZNF438_ENST00000444692.2_Silent_p.G574G|ZNF438_ENST00000361310.3_Silent_p.G584G|ZNF438_ENST00000436087.2_Silent_p.G584G NM_001143769.1 NP_001137241.1 Q7Z4V0 ZN438_HUMAN zinc finger protein 438 584 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(175;0.0587) CTTTCAGATGGCCAAAATAGA 0.478000 4 87 0 0 1 0 0 METTL7A 25840 broad.mit.edu 37 12 51318957 51318957 + Missense_Mutation SNP A A T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr12:51318957A>T ENST00000548553.1 + 2 1117 c.136A>T c.(136-138)Ata>Tta p.I46L METTL7A_ENST00000332160.4_Missense_Mutation_p.I46L Q9H8H3 MET7A_HUMAN methyltransferase like 7A 46 endoplasmic reticulum|lipid particle|membrane methyltransferase activity endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1) 10 GTTCACTGTGATATACAACGA 0.512000 39 55 0 0 1 0 0 WT1 7490 broad.mit.edu 37 11 32439182 32439182 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr11:32439182C>T ENST00000332351.3 - 4 1175 c.891G>A c.(889-891)atG>atA p.M297I WT1_ENST00000530998.1_Missense_Mutation_p.M85I|WT1_ENST00000448076.3_Missense_Mutation_p.M297I|WT1_ENST00000379079.2_Missense_Mutation_p.M85I NM_024424.3|NM_024426.4 NP_077742.2|NP_077744.3 P19544 WT1_HUMAN Wilms tumor 1 229 adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development cytoplasm|nuclear speck|nucleoplasm C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding EWSR1/WT1(234) NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1) 533 Breast(20;0.247) OV - Ovarian serous cystadenocarcinoma(30;0.128) GCTGGGATGTCATTTGGTATA 0.358000 """D, Mis, N, F, S""" EWSR1 """Wilms, desmoplastic small round cell tumor""" Wilms Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome 17 31 0 0 1 0 0 WDR59 79726 broad.mit.edu 37 16 74955968 74955968 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr16:74955968G>A ENST00000262144.6 - 10 893 c.763C>T c.(763-765)Ccc>Tcc p.P255S NM_030581.3 NP_085058.3 Q6PJI9 WDR59_HUMAN WD repeat domain 59 255 breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1) 27 CGCAGCTGGGGAACCATCACA 0.498000 21 59 0 0 1 0 0 LSS 4047 broad.mit.edu 37 21 47626600 47626600 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr21:47626600G>A ENST00000397728.3 - 16 1628 c.1550C>T c.(1549-1551)cCc>cTc p.P517L LSS_ENST00000522411.1_Missense_Mutation_p.P506L|LSS_ENST00000457828.2_Missense_Mutation_p.P437L|LSS_ENST00000356396.4_Missense_Mutation_p.P517L NM_001145436.1|NM_002340.5 NP_001138908.1|NP_002331.3 P48449 ERG7_HUMAN lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase) 517 cholesterol biosynthetic process endoplasmic reticulum membrane lanosterol synthase activity cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1) 21 Breast(49;0.214) GACCTCCGAGGGGTTCAGCAG 0.607000 20 44 0 0 1 0 0 RFX3 5991 broad.mit.edu 37 9 3288164 3288164 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr9:3288164G>A ENST00000382004.3 - 8 1129 c.818C>T c.(817-819)gCt>gTt p.A273V RFX3_ENST00000358730.2_Missense_Mutation_p.A273V|RFX3_ENST00000302303.1_Missense_Mutation_p.A273V NM_134428.1 NP_602304.1 P48380 RFX3_HUMAN regulatory factor X, 3 (influences HLA class II expression) 273 cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion nuclear chromatin protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337) TTGTCTCATAGCCATATACTG 0.403000 22 8 0 0 1 0 0 GSE1 23199 broad.mit.edu 37 16 85696634 85696634 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr16:85696634G>A ENST00000253458.7 + 10 2484 c.2308G>A c.(2308-2310)Gag>Aag p.E770K GSE1_ENST00000405402.2_Missense_Mutation_p.E666K|GSE1_ENST00000393243.1_Missense_Mutation_p.E697K NM_014615.2 NP_055430.1 Gse1 coiled-coil protein CGATGAGGAGGAGGTCAGGGC 0.582000 27 41 0 0 1 0 0 ARHGAP30 257106 broad.mit.edu 37 1 161017885 161017885 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr1:161017885C>T ENST00000368013.3 - 12 3246 c.2926G>A c.(2926-2928)Gga>Aga p.G976R ARHGAP30_ENST00000368016.3_Missense_Mutation_p.G765R|ARHGAP30_ENST00000368015.1_Missense_Mutation_p.G799R NM_001025598.1|NM_181720.2 NP_001020769.1|NP_859071.2 Q7Z6I6 RHG30_HUMAN Rho GTPase activating protein 30 976 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00122) GCCCTTTCTCCAGGAGTCCCA 0.582000 70 95 0 0 1 0 0 TM9SF1 10548 broad.mit.edu 37 14 24679650 24679650 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr14:24679650C>T ENST00000530611.1 - 5 547 c.514G>A c.(514-516)Gaa>Aaa p.E172K AL136419.6_ENST00000565988.1_RNA|CHMP4A_ENST00000542700.2_5'UTR|CHMP4A_ENST00000347519.6_Missense_Mutation_p.E215K|TM9SF1_ENST00000556387.1_Missense_Mutation_p.E172K O15321 TM9S1_HUMAN transmembrane 9 superfamily member 1 0 autophagy autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1) 24 GBM - Glioblastoma multiforme(265;0.0183) TGGGCCAATTCCTCCTGCTCC 0.478000 90 164 0 0 1 0 0 RAPGEF5 9771 broad.mit.edu 37 7 22162108 22162108 + Missense_Mutation SNP T T A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr7:22162108T>A ENST00000344041.6 - 26 2421 c.2109A>T c.(2107-2109)ttA>ttT p.L703F RAPGEF5_ENST00000401957.2_Missense_Mutation_p.L553F NM_012294.3 NP_036426.3 Q92565 RPGF5_HUMAN Rap guanine nucleotide exchange factor (GEF) 5 553 nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction nucleus GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1) 6 CATAGGACTTTAACTCTTGAT 0.473000 14 28 0 0 1 0 0 PIK3R6 146850 broad.mit.edu 37 17 8738761 8738761 + Silent SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr17:8738761G>A ENST00000311434.9 - 8 713 c.474C>T c.(472-474)ttC>ttT p.F158F PIK3R6_ENST00000434064.2_5'UTR NM_001010855.2 NP_001010855.1 Q5UE93 PI3R6_HUMAN phosphoinositide-3-kinase, regulatory subunit 6 158 platelet activation cytosol CAGGATCCACGAAGAGGAACA 0.612000 24 27 0 0 1 0 0 KIR3DL2 3812 broad.mit.edu 37 19 55377343 55377343 + Missense_Mutation SNP C C T rs138402445 TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr19:55377343C>T ENST00000326321.3 + 7 1117 c.1084C>T c.(1084-1086)Cgc>Tgc p.R362C KIR3DL1_ENST00000402254.2_Missense_Mutation_p.R362C|KIR3DL2_ENST00000270442.5_Missense_Mutation_p.R345C NM_006737.3 NP_006728.2 P43630 KI3L2_HUMAN killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2 362 cellular defense response|regulation of immune response integral to plasma membrane receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 23 GBM - Glioblastoma multiforme(193;0.0192) tctcctTTATCGCTGGTGCTC 0.532000 9 18 0 0 1 0 0 EPAS1 2034 broad.mit.edu 37 2 46609576 46609576 + Missense_Mutation SNP A A C TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr2:46609576A>C ENST00000263734.3 + 15 2810 c.2300A>C c.(2299-2301)cAa>cCa p.Q767P NM_001430.4 NP_001421.2 Q99814 EPAS1_HUMAN endothelial PAS domain protein 1 767 angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia transcription factor complex histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) LUSC - Lung squamous cell carcinoma(58;0.151) AAGTTCACCCAAAACCCCATG 0.572000 4 150 0 0 1 0 0 VPS13B 157680 broad.mit.edu 37 8 100133713 100133713 + Nonstop_Mutation SNP T T A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr8:100133713T>A ENST00000441350.2 + 8 1349 c.1246T>A c.(1246-1248)Taa>Aaa p.*416K VPS13B_ENST00000395996.1_Intron|VPS13B_ENST00000358544.2_Intron|VPS13B_ENST00000355155.1_Intron|VPS13B_ENST00000357162.2_Intron NM_181661.2 NP_858047.2 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 0 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) CTATCAACTTTAATGCTTAAA 0.318000 17 34 0 0 1 0 0 PRR23B 389151 broad.mit.edu 37 3 138738999 138738999 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr3:138738999C>T ENST00000329447.5 - 1 769 c.505G>A c.(505-507)Gac>Aac p.D169N MRPS22_ENST00000495075.1_Intron NM_001013650.2 NP_001013672.1 Q6ZRT6 PR23B_HUMAN proline rich 23B 169 NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 GTTGGGGAGTCCATCCGGAGC 0.657000 28 35 0 0 1 0 0 ASXL3 80816 broad.mit.edu 37 18 31326362 31326362 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr18:31326362C>T ENST00000269197.5 + 12 6550 c.6550C>T c.(6550-6552)Cct>Tct p.P2184S NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 2184 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 TGGCTCCAATCCTGCCACAGG 0.478000 52 82 0 0 1 0 0 MED12L 116931 broad.mit.edu 37 3 151090363 151090363 + Missense_Mutation SNP A A G TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr3:151090363A>G ENST00000474524.1 + 25 3606 c.3568A>G c.(3568-3570)Aaa>Gaa p.K1190E P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Missense_Mutation_p.K1050E NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 1190 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) AGGAGATGCCAAAATTGGCAA 0.378000 31 43 0 0 1 0 0 PRB4 5545 broad.mit.edu 37 12 11461319 11461319 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr12:11461319G>A ENST00000279575.1 - 3 631 c.598C>T c.(598-600)Cct>Tct p.P200S PRB4_ENST00000445719.2_Missense_Mutation_p.P131S|PRB4_ENST00000535904.1_Missense_Mutation_p.P200S NM_001261399.1|NM_002723.4 NP_001248328.1|NP_002714.2 P10163 PRB4_HUMAN proline-rich protein BstNI subfamily 4 263 9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G. P -> H (in dbSNP:rs12308244). extracellular region breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3) 30 GGCTTTCCAGGAGGTGGGGGA 0.627000 HNSCC(22;0.051) 153 197 0 0 1 0 0 CST5 1473 broad.mit.edu 37 20 23858220 23858220 + Silent SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr20:23858220C>T ENST00000304710.4 - 2 340 c.267G>A c.(265-267)aaG>aaA p.K89K NM_001900.4 NP_001891.2 P28325 CYTD_HUMAN cystatin D 89 extracellular region cysteine-type endopeptidase inhibitor activity|protein binding breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1) 11 TTCGACCGAACTTCACATTGA 0.532000 50 57 0 0 1 0 0 HMGXB4 10042 broad.mit.edu 37 22 35661213 35661213 + Missense_Mutation SNP C C G TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr22:35661213C>G ENST00000216106.5 + 5 960 c.832C>G c.(832-834)Cac>Gac p.H278D HMGXB4_ENST00000444518.2_Missense_Mutation_p.H169D NM_001003681.2 NP_001003681.1 Q9UGU5 HMGX4_HUMAN HMG box domain containing 4 278 endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway NURF complex DNA binding breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 CGCAGAGTCCCACAGTGCTAA 0.517000 26 40 0 0 1 0 0 OR2T4 127074 broad.mit.edu 37 1 248525786 248525786 + Nonsense_Mutation SNP A A T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr1:248525786A>T ENST00000366475.1 + 1 904 c.904A>T c.(904-906)Aag>Tag p.K302* NM_001004696.1 NP_001004696.1 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, member 4 302 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47) 56 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CACCCCTGAGAAGGACATGAT 0.512000 75 110 0 0 1 0 0 LGI4 163175 broad.mit.edu 37 19 35616208 35616208 + Silent SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr19:35616208G>A ENST00000310123.3 - 9 2022 c.1503C>T c.(1501-1503)gcC>gcT p.A501A LGI4_ENST00000493050.1_5'UTR|LGI4_ENST00000392225.3_3'UTR NM_139284.2 NP_644813.1 Q8N135 LGI4_HUMAN leucine-rich repeat LGI family, member 4 501 extracellular region endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849) AGGCACGGGGGGCCACCAGGG 0.637000 36 39 0 0 1 0 0 DIP2B 57609 broad.mit.edu 37 12 51128913 51128913 + Splice_Site SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr12:51128913G>A ENST00000301180.5 + 34 4135 c.4101_splice c.e34+1 p.K1367_splice NM_173602.2 NP_775873.2 Q9P265 DIP2B_HUMAN DIP2 disco-interacting protein 2 homolog B (Drosophila) 1367 nucleus catalytic activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 60 AGTCTGGAAAGGTAATTTGTT 0.458000 OREG0021816 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 29 62 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196722110 196722110 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr2:196722110G>A ENST00000312428.6 - 44 8505 c.8405C>T c.(8404-8406)tCa>tTa p.S2802L NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2802 Stalk (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 CTTATCATATGAATCCATTGC 0.343000 30 15 0 0 1 0 0 GHRHR 2692 broad.mit.edu 37 7 31016150 31016150 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr7:31016150G>A ENST00000409904.3 + 8 1147 c.889G>A c.(889-891)Gag>Aag p.E297K GHRHR_ENST00000326139.2_Missense_Mutation_p.E361K|GHRHR_ENST00000409316.1_Missense_Mutation_p.G127E|GHRHR_ENST00000461424.1_3'UTR Q02643 GHRHR_HUMAN growth hormone releasing hormone receptor 361 activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Sermorelin(DB00010) CCTCCCCCTGGAGCTGGGACT 0.582000 6 14 0 0 1 0 0 BAI1 575 broad.mit.edu 37 8 143562694 143562694 + Silent SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr8:143562694C>T ENST00000517894.1 + 10 2802 c.1908C>T c.(1906-1908)tcC>tcT p.S636S BAI1_ENST00000323289.5_Silent_p.S636S O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 636 axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7) 57 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) GCTGTGTTTCCATTGACTACA 0.607000 30 51 0 0 1 0 0 NRXN3 9369 broad.mit.edu 37 14 79432556 79432556 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr14:79432556C>T ENST00000554719.1 + 9 1956 c.1465C>T c.(1465-1467)Cgt>Tgt p.R489C NRXN3_ENST00000335750.5_Missense_Mutation_p.R489C NM_004796.4 NP_004787.2 Q9HDB5 NRX3B_HUMAN neurexin 3 0 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) GCTGAAGGCTCGTTTTGGACT 0.478000 28 35 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216538337 216538337 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr1:216538337C>T ENST00000366943.2 - 4 1128 c.742G>A c.(742-744)Gat>Aat p.D248N USH2A_ENST00000307340.3_Missense_Mutation_p.D248N|USH2A_ENST00000366942.3_Missense_Mutation_p.D248N O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 248 maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GATGCAAAATCTGTAATTGAA 0.338000 HNSCC(13;0.011) 19 28 0 0 1 0 0 LOC101927209 101927209 broad.mit.edu 37 1 142713845 142713845 + RNA SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr1:142713845C>T ENST00000369381.2 - 0 760 CAATTTTCATCCATCAGATCT 0.284000 13 15 0 0 1 0 0 SLC22A9 114571 broad.mit.edu 37 11 63137793 63137793 + Missense_Mutation SNP C C T rs143461929 by1000genomes TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr11:63137793C>T ENST00000279178.3 + 1 514 c.265C>T c.(265-267)Cgt>Tgt p.R89C SLC22A9_ENST00000310969.4_Missense_Mutation_p.R89C NM_080866.2 NP_543142.2 Q8IVM8 S22A9_HUMAN solute carrier family 22 (organic anion transporter), member 9 89 transmembrane transport integral to membrane breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 18 AGAGAAGTGTCGTCGCTTTGT 0.537000 33 66 0 0 1 0 0 SLC39A10 57181 broad.mit.edu 37 2 196545449 196545449 + Missense_Mutation SNP T T C TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr2:196545449T>C ENST00000409086.3 + 2 958 c.683T>C c.(682-684)cTa>cCa p.L228P SLC39A10_ENST00000541054.1_Intron|SLC39A10_ENST00000359634.5_Missense_Mutation_p.L228P NM_001127257.1 NP_001120729.1 Q9ULF5 S39AA_HUMAN solute carrier family 39 (zinc transporter), member 10 228 zinc ion transport integral to membrane metal ion transmembrane transporter activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2) 34 OV - Ovarian serous cystadenocarcinoma(117;0.221) GATGTTAAACTACCGAAAGGA 0.408000 18 40 0 0 1 0 0 GPC6 10082 broad.mit.edu 37 13 94482653 94482653 + Missense_Mutation SNP G G T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr13:94482653G>T ENST00000377047.4 + 3 1181 c.566G>T c.(565-567)tGt>tTt p.C189F GPC6-AS2_ENST00000445540.1_RNA NM_005708.3 NP_005699.1 Q9Y625 GPC6_HUMAN glypican 6 189 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 38 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217) TACCTGGAATGTGTGAGCAAA 0.498000 40 15 3.77016e-25 3.86457e-25 1 1 0 SECISBP2 79048 broad.mit.edu 37 9 91949501 91949501 + Silent SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr9:91949501C>T ENST00000375807.3 + 7 1016 c.945C>T c.(943-945)gcC>gcT p.A315A SECISBP2_ENST00000534113.2_Silent_p.A247A|SECISBP2_ENST00000339901.4_Silent_p.A242A NM_024077.3 NP_076982.3 Q96T21 SEBP2_HUMAN SECIS binding protein 2 315 translation nucleus mRNA 3'-UTR binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2) 32 TGTCAGCAGCCCCTAAAAATG 0.363000 17 4 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168100111 168100111 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr2:168100111G>A ENST00000409195.1 + 9 2298 c.2209G>A c.(2209-2211)Gaa>Aaa p.E737K XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E737K|XIRP2_ENST00000409273.1_Missense_Mutation_p.E515K|XIRP2_ENST00000409605.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 562 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 AAAATGTTTCGAAACTCAACC 0.373000 36 12 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25444440 25444440 + RNA SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr15:25444440C>T ENST00000424208.1 + 0 1713 SNHG14_ENST00000424333.1_RNA NR_003305.1 TTGCATTGGGCCCAATGGACC 0.592000 16 24 0 0 1 0 0 FAM120C 54954 broad.mit.edu 37 X 54107879 54107879 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chrX:54107879G>A ENST00000375180.2 - 14 2910 c.2854C>T c.(2854-2856)Cca>Tca p.P952S FAM120C_ENST00000328235.4_Silent_p.S814S NM_017848.4 NP_060318.3 Q9NX05 F120C_HUMAN family with sequence similarity 120C 952 breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 CCTTGGGGTGGGATTGGATGG 0.572000 22 7 0 0 1 0 0 SCNN1B 6338 broad.mit.edu 37 16 23364245 23364245 + Nonsense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr16:23364245G>A ENST00000343070.2 + 3 611 c.435G>A c.(433-435)tgG>tgA p.W145* SCNN1B_ENST00000307331.5_Nonsense_Mutation_p.W190*|SCNN1B_ENST00000568923.1_Nonsense_Mutation_p.W145*|SCNN1B_ENST00000568085.1_Nonsense_Mutation_p.W145* NM_000336.2 NP_000327.2 P51168 SCNNB_HUMAN sodium channel, non-voltage-gated 1, beta subunit 145 excretion|sensory perception of taste apical plasma membrane ligand-gated sodium channel activity|WW domain binding breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 32 GBM - Glioblastoma multiforme(48;0.0465) Amiloride(DB00594)|Triamterene(DB00384) TCTCCATCTGGAACCACACAC 0.532000 52 66 0 0 1 0 0 WRN 7486 broad.mit.edu 37 8 30942717 30942717 + Silent SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr8:30942717C>T ENST00000298139.5 + 11 1635 c.1386C>T c.(1384-1386)tcC>tcT p.S462S NM_000553.4 NP_000544.2 Q14191 WRN_HUMAN Werner syndrome, RecQ helicase-like 462 2 X 27 AA tandem repeats of H-L-S-P-N-D- N-E-N-D-T-S-Y-V-I-E-S-D-E-D-L-E-M-E-M-L- K. base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3) 60 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) ACGATACGTCCTATGTAATTG 0.279000 """Mis, N, F, S""" """osteosarcoma, meningioma, others""" Genes defective in diseases associated with sensitivity to DNA damaging agents Werner syndrome 15 39 0 0 1 0 0 MCTP1 79772 broad.mit.edu 37 5 94206163 94206163 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr5:94206163C>T ENST00000515393.1 - 16 2274 c.2275G>A c.(2275-2277)Gaa>Aaa p.E759K MCTP1_ENST00000505078.1_Missense_Mutation_p.E275K|MCTP1_ENST00000505208.1_Missense_Mutation_p.E538K|MCTP1_ENST00000312216.8_Missense_Mutation_p.E538K|MCTP1_ENST00000429576.2_Missense_Mutation_p.E492K NM_024717.4 NP_078993.4 Q6DN14 MCTP1_HUMAN multiple C2 domains, transmembrane 1 759 calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1) 41 all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207) all cancers(79;9.1e-17) TACTTCTGTTCTTTGGGTATT 0.338000 20 5 0 0 1 0 0 CHRM5 1133 broad.mit.edu 37 15 34355398 34355398 + Silent SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr15:34355398C>T ENST00000383263.5 + 3 1150 c.480C>T c.(478-480)atC>atT p.I160I CHRM5_ENST00000557872.1_Silent_p.I160I NM_012125.3 NP_036257.1 P08912 ACM5_HUMAN cholinergic receptor, muscarinic 5 160 cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1) 20 all_lung(180;1.76e-08) all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262) Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372) TCTCCTTCATCCTCTGGGCCC 0.542000 49 75 0 0 1 0 0 PCDHGB1 56104 broad.mit.edu 37 5 140731360 140731360 + Silent SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr5:140731360C>T ENST00000523390.1 + 1 1533 c.1533C>T c.(1531-1533)ttC>ttT p.F511F PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron NM_018922.2|NM_032095.1 NP_061745.1|NP_115266.1 central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1) 16 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGTGGTGTTCGCGCAGCGCG 0.682000 46 22 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34191037 34191037 + Missense_Mutation SNP A A G TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr1:34191037A>G ENST00000373381.4 - 17 2784 c.2608T>C c.(2608-2610)Ttc>Ctc p.F870L NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 830 Sushi 5. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) CTGATGAGGAACTGGGGAACC 0.552000 21 30 0 0 1 0 0 ZSWIM5 57643 broad.mit.edu 37 1 45484500 45484500 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr1:45484500G>A ENST00000359600.5 - 14 3389 c.3184C>T c.(3184-3186)Ccc>Tcc p.P1062S NM_020883.1 NP_065934.1 Q9P217 ZSWM5_HUMAN zinc finger, SWIM-type containing 5 1062 zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 28 Acute lymphoblastic leukemia(166;0.155) ACCACCAGGGGGATGAGAGCT 0.597000 OREG0013450 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 33 53 0 0 1 0 0 ORC1 4998 broad.mit.edu 37 1 52867040 52867040 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr1:52867040C>T ENST00000371568.3 - 3 435 c.217G>A c.(217-219)Gaa>Aaa p.E73K ORC1_ENST00000371566.1_Missense_Mutation_p.E73K NM_001190818.1|NM_001190819.1|NM_004153.3 NP_001177747.1|NP_001177748.1|NP_004144.2 Q13415 ORC1_HUMAN origin recognition complex, subunit 1 73 BAH. cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 TCACCATCTTCGAACAACTCA 0.433000 53 95 0 0 1 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102510944 102510944 + Missense_Mutation SNP T T A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr14:102510944T>A ENST00000360184.4 + 72 13079 c.12915T>A c.(12913-12915)ttT>ttA p.F4305L RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 4305 cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 GAGAGGAGTTTGTGCAGTGGG 0.577000 71 85 0 0 1 0 0 CATSPERB 79820 broad.mit.edu 37 14 92091263 92091263 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr14:92091263G>A ENST00000256343.3 - 18 1987 c.1831C>T c.(1831-1833)Ccc>Tcc p.P611S NM_024764.2 NP_079040.2 Q9H7T0 CTSRB_HUMAN catsper channel auxiliary subunit beta 611 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2) 54 all_cancers(154;0.0663)|all_epithelial(191;0.236) AATCCAAAGGGCTCTTTCATT 0.353000 13 23 0 0 1 0 0 NOL8 55035 broad.mit.edu 37 9 95077871 95077871 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr9:95077871G>A ENST00000545558.1 - 7 1528 c.1036C>T c.(1036-1038)Cac>Tac p.H346Y NOL8_ENST00000358855.4_Missense_Mutation_p.H278Y|NOL8_ENST00000535387.1_Missense_Mutation_p.H346Y|NOL8_ENST00000442668.2_Missense_Mutation_p.H346Y|NOL8_ENST00000542053.1_Missense_Mutation_p.H278Y Q76FK4 NOL8_HUMAN nucleolar protein 8 346 DNA replication|positive regulation of cell growth nucleolus nucleotide binding|protein binding|RNA binding endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1) 16 TGCAGTTTGTGAACGCCTGAT 0.363000 8 8 0 0 1 0 0 ADAM18 8749 broad.mit.edu 37 8 39525647 39525647 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr8:39525647G>A ENST00000265707.5 + 14 1502 c.1457G>A c.(1456-1458)gGa>gAa p.G486E ADAM18_ENST00000379866.1_Missense_Mutation_p.G462E|ADAM18_ENST00000541111.1_5'UTR NM_014237.2 NP_055052.1 Q9Y3Q7 ADA18_HUMAN ADAM metallopeptidase domain 18 486 Cys-rich. cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding p.G486V(1) NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3) 71 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) TGCAAGTTGGGAACTGCCTAT 0.383000 53 90 0 0 1 0 0 AKAP8L 26993 broad.mit.edu 37 19 15491368 15491368 + Missense_Mutation SNP T T C TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr19:15491368T>C ENST00000397410.4 - 13 1656 c.1592A>G c.(1591-1593)aAc>aGc p.N531S AC005785.2_ENST00000597164.1_RNA|AKAP8L_ENST00000595465.1_Missense_Mutation_p.N470S NM_014371.2 NP_055186.2 Q9ULX6 AKP8L_HUMAN A kinase (PRKA) anchor protein 8-like 531 cytoplasm|nuclear matrix DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1) 11 GAGCTTGTTGTTGAGAATACT 0.622000 21 29 0 0 1 0 0 NWD1 284434 broad.mit.edu 37 19 16860407 16860407 + Silent SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr19:16860407C>T ENST00000524140.2 + 6 1372 c.954C>T c.(952-954)ctC>ctT p.L318L NWD1_ENST00000339803.6_Silent_p.L183L|NWD1_ENST00000379808.3_Silent_p.L318L|NWD1_ENST00000552788.1_Silent_p.L318L|NWD1_ENST00000549814.1_Silent_p.L318L|NWD1_ENST00000523826.1_Silent_p.L112L NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 318 ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 GCCAGGAACTCCTGGCCCGGC 0.617000 37 55 0 0 1 0 0 CFAP54 144535 broad.mit.edu 37 12 97136260 97136260 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr12:97136260C>T ENST00000524981.3 + 19 2468 c.2468C>T c.(2467-2469)tCc>tTc p.S823F Q6ZTY8 CL063_HUMAN 797 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2) 54 GATCCTATTTCCCTAAATGCC 0.368000 3 11 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9047696 9047696 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr19:9047696G>A ENST00000397910.4 - 5 34138 c.33935C>T c.(33934-33936)tCa>tTa p.S11312L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 11314 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding 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 TATACCAGGTGAAATAGTTGT 0.483000 20 54 0 0 1 0 0 CHD9 80205 broad.mit.edu 37 16 53262897 53262897 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr16:53262897C>T ENST00000566029.1 + 8 2380 c.2171C>T c.(2170-2172)tCc>tTc p.S724F CHD9_ENST00000564845.1_Missense_Mutation_p.S724F|CHD9_ENST00000447540.1_Missense_Mutation_p.S724F|CHD9_ENST00000398510.3_Missense_Mutation_p.S724F Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 724 Chromo 1. cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 78 all_cancers(37;0.0212) aattttaGCTCCTATCTTCAC 0.308000 4 9 0 0 1 0 0 ASPH 444 broad.mit.edu 37 8 62479788 62479788 + Silent SNP A A G TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr8:62479788A>G ENST00000541428.1 - 17 1312 c.1152T>C c.(1150-1152)gaT>gaC p.D384D ASPH_ENST00000379454.4_Silent_p.D413D NM_001164750.1 NP_001158222.1 Q12797 ASPH_HUMAN aspartate beta-hydroxylase 413 muscle contraction integral to endoplasmic reticulum membrane calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 Lung SC(2;0.153) Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101) L-Aspartic Acid(DB00128)|Succinic acid(DB00139) CTGCAGGGACATCAGGTAGGC 0.483000 33 46 0 0 1 0 0 SCN4A 6329 broad.mit.edu 37 17 62018539 62018539 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr17:62018539C>T ENST00000578147.1 - 24 5179 c.5103G>A c.(5101-5103)atG>atA p.M1701I SCN4A_ENST00000435607.1_Missense_Mutation_p.M1701I P35499 SCN4A_HUMAN sodium channel, voltage-gated, type IV, alpha subunit 1701 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 101 Lamotrigine(DB00555) ACTTCTCCTCCATGGTCTGCT 0.587000 26 52 0 0 1 0 0 PTPRK 5796 broad.mit.edu 37 6 128643452 128643452 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr6:128643452G>A ENST00000368227.3 - 3 593 c.227C>T c.(226-228)tCc>tTc p.S76F PTPRK_ENST00000368210.3_Missense_Mutation_p.S76F|PTPRK_ENST00000368215.3_Missense_Mutation_p.S76F|PTPRK_ENST00000368207.3_Missense_Mutation_p.S76F|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368213.5_Missense_Mutation_p.S76F|PTPRK_ENST00000525459.1_Missense_Mutation_p.S76F|PTPRK_ENST00000368226.4_Missense_Mutation_p.S76F|PTPRK_ENST00000532331.1_Missense_Mutation_p.S76F Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 76 MAM. cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity PTPRK/RSPO3(10) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) TATCATATAGGAACCTGAAAT 0.353000 28 24 0 0 1 0 0 OR5AK2 390181 broad.mit.edu 37 11 56757252 56757252 + Missense_Mutation SNP A A T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr11:56757252A>T ENST00000326855.2 + 1 906 c.864A>T c.(862-864)ttA>ttT p.L288F NM_001005323.1 NP_001005323.1 Q8NH90 O5AK2_HUMAN olfactory receptor, family 5, subfamily AK, member 2 288 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 21 TAAATCCTTTAATCTATAGCT 0.308000 9 18 0 0 1 0 0 OR4A47 403253 broad.mit.edu 37 11 48510885 48510885 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr11:48510885C>T ENST00000446524.1 + 1 617 c.541C>T c.(541-543)Ccc>Tcc p.P181S NM_001005512.2 NP_001005512.2 Q6IF82 O4A47_HUMAN olfactory receptor, family 4, subfamily A, member 47 181 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P181A(1) NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2) 29 TGACATGTATCCCTTATTGAA 0.443000 43 87 0 0 1 0 0 DHX34 9704 broad.mit.edu 37 19 47879316 47879316 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr19:47879316C>T ENST00000328771.4 + 11 2792 c.2443C>T c.(2443-2445)Ccc>Tcc p.P815S NM_014681.5 NP_055496.2 Q14147 DHX34_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 34 815 intracellular ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132) GCTGGCCGTCCCCGACGCCTT 0.652000 37 36 0 0 1 0 0 FAM177B 400823 broad.mit.edu 37 1 222919979 222919979 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr1:222919979G>A ENST00000445590.2 + 3 358 c.92G>A c.(91-93)gGa>gAa p.G31E FAM177B_ENST00000360827.2_Missense_Mutation_p.G31E NM_207468.2 NP_997351.2 A6PVY3 F177B_HUMAN family with sequence similarity 177, member B 31 breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|stomach(1) 8 TTTGTTGACGGAGACATCATG 0.413000 22 37 0 0 1 0 0 TPTE 7179 broad.mit.edu 37 21 10943004 10943004 + Nonsense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr21:10943004G>A ENST00000298232.7 - 11 896 c.529C>T c.(529-531)Cga>Tga p.R177* TPTE_ENST00000342420.5_Nonsense_Mutation_p.R157*|TPTE_ENST00000361285.4_Nonsense_Mutation_p.R195*|TPTE_ENST00000415664.2_5'UTR NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 195 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.R177*(2) NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CGTAGAAGTCGAAGTAAATGT 0.308000 6 25 0 0 1 0 0 MAP3K15 389840 broad.mit.edu 37 X 19482432 19482432 + Silent SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chrX:19482432G>A ENST00000338883.4 - 4 617 c.618C>T c.(616-618)tcC>tcT p.S206S MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000469203.2_Silent_p.S38S NM_001001671.3 NP_001001671.3 Q6ZN16 M3K15_HUMAN mitogen-activated protein kinase kinase kinase 15 206 ATP binding|MAP kinase kinase kinase activity|metal ion binding NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 Hepatocellular(33;0.183) GCATGTACTCGGAGGCTCGTC 0.512000 25 7 0 0 1 0 0 NEURL1 9148 broad.mit.edu 37 10 105330842 105330842 + Missense_Mutation SNP T T G TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr10:105330842T>G ENST00000369780.4 + 2 708 c.299T>G c.(298-300)gTc>gGc p.V100G NEURL_ENST00000369777.2_Missense_Mutation_p.V83G NM_004210.4 NP_004201.3 O76050 NEU1A_HUMAN 100 NHR 1. nervous system development perinuclear region of cytoplasm zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 17 Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125) AACCGCCCGGTCCTCATCTAC 0.662000 29 47 0 0 1 0 0 RGPD8 727851 broad.mit.edu 37 2 113127775 113127775 + Missense_Mutation SNP G G C TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr2:113127775G>C ENST00000302558.3 - 23 5469 c.5278C>G c.(5278-5280)Cct>Gct p.P1760A RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A NM_001164463.1 NP_001157935.1 RANBP2-like and GRIP domain containing 8 p.P1760A(12) endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1) 10 GAACGGGAAGGATTTTCTTCC 0.308000 3 59 0 0 1 0 0 INSR 3643 broad.mit.edu 37 19 7267492 7267492 + Silent SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr19:7267492G>A ENST00000341500.5 - 2 555 c.516C>T c.(514-516)atC>atT p.I172I INSR_ENST00000302850.5_Silent_p.I172I NM_001079817.1 NP_001073285.1 P06213 INSR_HUMAN insulin receptor 172 activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus caveola|endosome membrane|insulin receptor complex|microsome ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2) 66 Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TGTTCAACACGATGTAATTAT 0.542000 22 48 0 0 1 0 0 CDK13 8621 broad.mit.edu 37 7 40133782 40133782 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr7:40133782G>A ENST00000181839.4 + 14 4347 c.3742G>A c.(3742-3744)Gaa>Aaa p.E1248K CDK13_ENST00000340829.5_Missense_Mutation_p.E1188K NM_003718.4|NM_031267.3 NP_003709.3|NP_112557.2 Q14004 CDK13_HUMAN cyclin-dependent kinase 13 1248 alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1) 49 GCTAACGCCAGAACCAGACCG 0.483000 53 63 0 0 1 0 0 MMP9 4318 broad.mit.edu 37 20 44644942 44644942 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr20:44644942G>A ENST00000372330.3 + 13 2078 c.2059G>A c.(2059-2061)Gag>Aag p.E687K RP11-465L10.10_ENST00000535913.1_RNA NM_004994.2 NP_004985.2 P14780 MMP9_HUMAN matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) 687 Hemopexin-like 4. collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis extracellular space|proteinaceous extracellular matrix collagen binding|metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3) 46 Myeloproliferative disorder(115;0.0122) Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641) TTCCCGGAGTGAGTTGAACCA 0.552000 44 53 0 0 1 0 0 AMICA1 120425 broad.mit.edu 37 11 118074365 118074365 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr11:118074365G>A ENST00000292067.7 - 5 961 c.520C>T c.(520-522)Cgt>Tgt p.R174C AMICA1_ENST00000356289.5_Missense_Mutation_p.R184C|AMICA1_ENST00000526620.1_Missense_Mutation_p.R145C|AMICA1_ENST00000533261.1_Missense_Mutation_p.R173C NM_153206.2 NP_694938.2 Q86YT9 JAML1_HUMAN adhesion molecule, interacts with CXADR antigen 1 184 Ig-like V-type 2. blood coagulation|cell adhesion|leukocyte migration|regulation of immune response cell junction|integral to membrane p.R174G(1)|p.R174C(1) central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2) 20 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.4e-05) TGGTAGTAACGAAATACAATC 0.502000 31 45 0 0 1 0 0 TRIOBP 11078 broad.mit.edu 37 22 38121291 38121291 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr22:38121291C>T ENST00000406386.3 + 7 2983 c.2728C>T c.(2728-2730)Ccc>Tcc p.P910S RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 910 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) GGCCTCGTTTCCCCTCCGGCC 0.577000 91 138 0 0 1 0 0 TMEM156 80008 broad.mit.edu 37 4 39000290 39000290 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr4:39000290C>T ENST00000381938.3 - 2 435 c.328G>A c.(328-330)Gat>Aat p.D110N TMEM156_ENST00000372489.2_5'UTR NM_024943.1 NP_079219.1 Q8N614 TM156_HUMAN transmembrane protein 156 110 integral to membrane endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|stomach(1) 10 GAAATAAAATCCATGTTTCCT 0.343000 10 11 0 0 1 0 0 COL12A1 1303 broad.mit.edu 37 6 75899096 75899096 + Splice_Site SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr6:75899096C>T ENST00000322507.8 - 7 969 c.658_splice c.e7-1 p.G220_splice COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000483888.2_Splice_Site_p.G220_splice|COL12A1_ENST00000416123.2_Splice_Site_p.G220_splice NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 220 VWFA 1. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 CAATGGCATCCCCTAAAGGGA 0.328000 14 9 0 0 1 0 0 ATP6V0C 527 broad.mit.edu 37 16 2569325 2569325 + Missense_Mutation SNP T T C TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr16:2569325T>C ENST00000564543.1 + 2 1189 c.1072T>C c.(1072-1074)Tgg>Cgg p.W358R ATP6C_ENST00000569317.1_Intron|ATP6V0C_ENST00000564973.1_Silent_p.A19A|ATP6V0C_ENST00000568562.1_Missense_Mutation_p.W45R|ATP6V0C_ENST00000565223.1_Silent_p.A19A|ATP6V0C_ENST00000330398.4_Silent_p.A62A TGGTCATGGCTGGCATCATCG 0.602000 30 43 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61958257 61958257 + Silent SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr10:61958257C>T ENST00000280772.1 - 14 1721 c.1530G>A c.(1528-1530)ggG>ggA p.G510G ANK3_ENST00000503366.1_Silent_p.G493G|ANK3_ENST00000373827.2_Silent_p.G504G NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 510 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 TGTCTGCTTTCCCCAGTCGGG 0.507000 42 64 0 0 1 0 0 PIK3C2G 5288 broad.mit.edu 37 12 18435240 18435240 + Silent SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr12:18435240G>A ENST00000433979.1 + 2 341 c.225G>A c.(223-225)ggG>ggA p.G75G RERGL_ENST00000541632.1_Intron|PIK3C2G_ENST00000538779.1_Silent_p.G75G|PIK3C2G_ENST00000266497.5_Silent_p.G75G|PIK3C2G_ENST00000535651.1_Silent_p.G75G NM_004570.4 NP_004561.3 O75747 P3C2G_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma 75 cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 66 Hepatocellular(102;0.194) ACTCAACAGGGCATTCATTAA 0.408000 38 69 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 62023607 62023607 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr10:62023607C>T ENST00000280772.1 - 6 876 c.685G>A c.(685-687)Gat>Aat p.D229N ANK3_ENST00000503366.1_Missense_Mutation_p.D212N|ANK3_ENST00000373827.2_Missense_Mutation_p.D223N NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 229 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 GATTCCACATCTGCATTGTTG 0.552000 14 28 0 0 1 0 0 TMPRSS11D 9407 broad.mit.edu 37 4 68691544 68691544 + Missense_Mutation SNP T T A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr4:68691544T>A ENST00000283916.6 - 9 1099 c.1001A>T c.(1000-1002)aAt>aTt p.N334I TMPRSS11D_ENST00000545541.1_Missense_Mutation_p.N217I|RP11-453E17.1_ENST00000500538.2_RNA NM_004262.2 NP_004253.1 O60235 TM11D_HUMAN transmembrane protease, serine 11D 334 Peptidase S1. proteolysis|respiratory gaseous exchange extracellular region|integral to plasma membrane serine-type endopeptidase activity cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 ACATACATCATTACTTATTAT 0.418000 35 60 0 0 1 0 0 TST 7263 broad.mit.edu 37 22 37414218 37414218 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr22:37414218C>T ENST00000403892.3 - 1 1290 c.556G>A c.(556-558)Ggg>Agg p.G186R TST_ENST00000249042.3_Missense_Mutation_p.G186R NM_001270483.1 NP_001257412.1 Q16762 THTR_HUMAN thiosulfate sulfurtransferase (rhodanese) 186 Rhodanese 2. cyanate catabolic process|rRNA transport mitochondrial matrix|plasma membrane 5S rRNA binding|thiosulfate sulfurtransferase activity kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1) 7 AGGAACCGCCCTTGAGACCTT 0.587000 8 15 0 0 1 0 0 KIAA2022 340533 broad.mit.edu 37 X 73961966 73961966 + Missense_Mutation SNP A A C TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chrX:73961966A>C ENST00000373468.1 - 3 3077 c.2426T>G c.(2425-2427)gTt>gGt p.V809G KIAA2022_ENST00000055682.5_Missense_Mutation_p.V809G Q5QGS0 K2022_HUMAN KIAA2022 809 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 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 TCCCGGGATAACAGGTATATT 0.408000 57 27 0 0 1 0 0 CLEC4C 170482 broad.mit.edu 37 12 7882201 7882201 + Silent SNP G G A rs142052046 by1000genomes TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr12:7882201G>A ENST00000542353.1 - 7 1123 c.633C>T c.(631-633)atC>atT p.I211I CLEC4C_ENST00000540085.1_Silent_p.I180I|CLEC4C_ENST00000354629.5_Silent_p.I180I|CLEC4C_ENST00000360345.3_Silent_p.I211I NM_130441.2 NP_569708.1 Q8WTT0 CLC4C_HUMAN C-type lectin domain family 4, member C 211 innate immune response integral to membrane sugar binding autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Kidney(36;0.0915) TTTATATGTAGATCTTCTTCA 0.358000 26 32 0 0 1 0 0 SLC6A18 348932 broad.mit.edu 37 5 1232389 1232389 + Silent SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr5:1232389C>T ENST00000324642.3 + 2 339 c.216C>T c.(214-216)ttC>ttT p.F72F SLC6A18_ENST00000296821.4_Silent_p.F72F NM_182632.2 NP_872438.2 Q96N87 S6A18_HUMAN solute carrier family 6 (neutral amino acid transporter), member 18 72 cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1) 34 all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10) Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) TCCCCATTTTCCACGTCGAGC 0.677000 12 17 0 0 1 0 0 DRD5 1816 broad.mit.edu 37 4 9784947 9784947 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr4:9784947G>A ENST00000304374.2 + 1 1690 c.1294G>A c.(1294-1296)Ggt>Agt p.G432S NM_000798.4 NP_000789.1 P21918 DRD5_HUMAN dopamine receptor D5 432 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1) 57 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) CGAGGAGGAGGGTCCTTTCGA 0.567000 28 57 0 0 1 0 0 ZSCAN31 64288 broad.mit.edu 37 6 28294113 28294113 + Missense_Mutation SNP A A G TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr6:28294113A>G ENST00000414429.1 - 8 1954 c.1051T>C c.(1051-1053)Tat>Cat p.Y351H ZSCAN31_ENST00000439158.1_Missense_Mutation_p.Y351H|ZSCAN31_ENST00000344279.6_Missense_Mutation_p.Y351H|ZSCAN31_ENST00000446474.1_Missense_Mutation_p.Y192H|ZSCAN31_ENST00000396838.2_Missense_Mutation_p.Y351H|ZSCAN31_ENST00000481934.1_5'UTR zinc finger and SCAN domain containing 31 CGACACTGATAGCGCTTCTCT 0.502000 56 136 0 0 1 0 0 ACAN 176 broad.mit.edu 37 15 89381922 89381922 + Silent SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr15:89381922C>T ENST00000439576.2 + 3 473 c.99C>T c.(97-99)atC>atT p.I33I ACAN_ENST00000561243.1_Silent_p.I33I|ACAN_ENST00000559004.1_Silent_p.I33I|ACAN_ENST00000558207.1_Silent_p.I33I|ACAN_ENST00000352105.7_Silent_p.I33I NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 33 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) GTGTCAGCATCCCCCAACCGT 0.617000 60 98 0 0 1 0 0 CASR 846 broad.mit.edu 37 3 122003562 122003562 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr3:122003562G>A ENST00000498619.1 + 7 3229 c.2791G>A c.(2791-2793)Gaa>Aaa p.E931K CASR_ENST00000296154.5_Missense_Mutation_p.E921K|CASR_ENST00000490131.1_Missense_Mutation_p.E921K NM_001178065.1 NP_001171536.1 P41180 CASR_HUMAN calcium-sensing receptor 921 anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) GAGCAACAGCGAAGACCCATT 0.662000 21 42 0 0 1 0 0 ABCC12 94160 broad.mit.edu 37 16 48177960 48177960 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr16:48177960C>T ENST00000311303.3 - 2 481 c.136G>A c.(136-138)Gtg>Atg p.V46M ABCC12_ENST00000448542.1_Missense_Mutation_p.V46M|ABCC12_ENST00000416054.1_Missense_Mutation_p.V46M NM_033226.2 NP_150229.2 Q96J65 MRP9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 12 46 integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1) 90 all_cancers(37;0.0474)|all_lung(18;0.047) GCATCATCCACCGGGTTGGGT 0.572000 19 35 0 0 1 0 0 ILDR1 286676 broad.mit.edu 37 3 121725865 121725865 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr3:121725865C>T ENST00000273691.3 - 2 307 c.202G>A c.(202-204)Gac>Aac p.D68N ILDR1_ENST00000462014.1_Missense_Mutation_p.D80N|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000393631.1_Missense_Mutation_p.D68N|ILDR1_ENST00000344209.5_Missense_Mutation_p.D68N NM_175924.3 NP_787120.1 Q86SU0 ILDR1_HUMAN immunoglobulin-like domain containing receptor 1 68 Ig-like V-type. cytosol|integral to membrane|plasma membrane receptor activity p.D68N(1) central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GBM - Glioblastoma multiforme(114;0.156) AAGATAGGGTCCTTGCAGAAG 0.542000 12 23 0 0 1 0 0 SEMA3C 10512 broad.mit.edu 37 7 80456775 80456775 + Missense_Mutation SNP A A C TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr7:80456775A>C ENST00000265361.3 - 4 854 c.293T>G c.(292-294)gTt>gGt p.V98G SEMA3C_ENST00000536800.1_Intron|SEMA3C_ENST00000544525.1_Missense_Mutation_p.V116G|SEMA3C_ENST00000419255.2_Missense_Mutation_p.V98G NM_006379.3 NP_006370.1 Q99985 SEM3C_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C 98 Sema. immune response|response to drug membrane receptor activity NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 GCATTCTTCAACTTTGATTGT 0.343000 8 17 0 0 1 0 0 TRIM71 131405 broad.mit.edu 37 3 32932856 32932856 + Silent SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr3:32932856G>A ENST00000383763.4 + 4 2223 c.2160G>A c.(2158-2160)agG>agA p.R720R NM_001039111.1 NP_001034200.1 Q2Q1W2 LIN41_HUMAN tripartite motif containing 71, E3 ubiquitin protein ligase 720 multicellular organismal development cytoplasm zinc ion binding breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 CAGACACGAGGAACCACCGGA 0.542000 15 18 0 0 1 0 0 GPX5 2880 broad.mit.edu 37 6 28500097 28500097 + Splice_Site SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr6:28500097G>A ENST00000412168.2 + 4 448 c.e4-1 GPX5_ENST00000442674.2_Splice_Site|GPX5_ENST00000469384.1_Splice_Site NM_001509.2 NP_001500.1 O75715 GPX5_HUMAN glutathione peroxidase 5 (epididymal androgen-related protein) lipid metabolic process|response to oxidative stress extracellular region glutathione peroxidase activity endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 Glutathione(DB00143) GCTTGTTGCAGGTATGTCCGT 0.433000 29 55 0 0 1 0 0 TEP1 7011 broad.mit.edu 37 14 20876165 20876165 + Missense_Mutation SNP T T A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr14:20876165T>A ENST00000262715.5 - 2 474 c.434A>T c.(433-435)aAc>aTc p.N145I TEP1_ENST00000556935.1_Missense_Mutation_p.N145I NM_007110.4 NP_009041.2 Q99973 TEP1_HUMAN telomerase-associated protein 1 145 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) ATTGCTGTTGTTCACACGGTA 0.507000 62 106 0 0 1 0 0 POU4F1 5457 broad.mit.edu 37 13 79176588 79176588 + Missense_Mutation SNP A A T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr13:79176588A>T ENST00000377208.5 - 2 433 c.222T>A c.(220-222)caT>caA p.H74Q RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000606124.1_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000607220.1_RNA NM_006237.3 NP_006228.3 Q01851 PO4F1_HUMAN POU class 4 homeobox 1 74 axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1) 16 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848) GBM - Glioblastoma multiforme(99;0.129) GCTTGAAAGGATGGCTCTTGC 0.677000 10 2 0 0 1 0 0 CDH7 1005 broad.mit.edu 37 18 63489462 63489462 + Silent SNP T T C TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr18:63489462T>C ENST00000536984.2 + 5 1465 c.771T>C c.(769-771)gaT>gaC p.D257D CDH7_ENST00000323011.3_Silent_p.D257D|CDH7_ENST00000397968.2_Silent_p.D257D Q9ULB5 CADH7_HUMAN cadherin 7, type 2 257 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 80 Esophageal squamous(42;0.129) ATGTCAACGATAATCCACCTC 0.383000 15 31 0 0 1 0 0 LEPR 3953 broad.mit.edu 37 1 66091824 66091824 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr1:66091824G>A ENST00000344610.8 + 20 2964 c.2692G>A c.(2692-2694)Gaa>Aaa p.E898K LEPR_ENST00000349533.6_Intron|LEPR_ENST00000371060.3_Intron|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371058.1_Missense_Mutation_p.E898K|LEPR_ENST00000371059.3_Intron P48357 LEPR_HUMAN leptin receptor 0 Required for JAK2 activation (By similarity). energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2) 36 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) TGGCACAAAGGAACTACTGGG 0.493000 10 15 0 0 1 0 0 ZBTB43 23099 broad.mit.edu 37 9 129596081 129596081 + Missense_Mutation SNP T T A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr9:129596081T>A ENST00000373464.4 + 3 1557 c.1293T>A c.(1291-1293)aaT>aaA p.N431K ZBTB43_ENST00000373457.1_Missense_Mutation_p.N431K|ZBTB43_ENST00000449886.1_Missense_Mutation_p.N431K NM_014007.3 NP_054726.1 O43298 ZBT43_HUMAN zinc finger and BTB domain containing 43 431 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 ATGAGTGTAATATCTGTGCAA 0.473000 64 61 0 0 1 0 0 NAT8L 339983 broad.mit.edu 37 4 2062819 2062819 + Silent SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr4:2062819C>T ENST00000423729.2 + 2 471 c.471C>T c.(469-471)atC>atT p.I157I NAT8L_ENST00000331662.3_5'UTR NM_178557.3 NP_848652.2 Q8N9F0 NAT8L_HUMAN N-acetyltransferase 8-like (GCN5-related, putative) 157 N-acetyltransferase. integral to membrane|microsome|mitochondrial membrane|rough endoplasmic reticulum membrane aspartate N-acetyltransferase activity haematopoietic_and_lymphoid_tissue(1)|lung(1) 2 OV - Ovarian serous cystadenocarcinoma(23;0.0315) GCAAGGTGATCCGCGCCTACC 0.697000 12 27 0 0 1 0 0 TENC1 23371 broad.mit.edu 37 12 53447585 53447585 + Missense_Mutation SNP A A G TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr12:53447585A>G ENST00000314250.6 + 5 579 c.289A>G c.(289-291)Ata>Gta p.I97V RP11-983P16.4_ENST00000550601.1_RNA|RP11-983P16.4_ENST00000551890.1_RNA|TENC1_ENST00000549700.1_Missense_Mutation_p.I97V|TENC1_ENST00000451358.1_Missense_Mutation_p.I97V|TENC1_ENST00000379902.3_5'UTR|TENC1_ENST00000314276.3_Missense_Mutation_p.I107V|TENC1_ENST00000552570.1_Missense_Mutation_p.I97V|TENC1_ENST00000546602.1_Missense_Mutation_p.I97V|RP11-983P16.4_ENST00000546793.1_RNA NM_170754.2 NP_736610.2 Q63HR2 TENC1_HUMAN tensin like C1 domain containing phosphatase (tensin 2) 97 intracellular signal transduction|negative regulation of cell proliferation focal adhesion metal ion binding|phosphoprotein phosphatase activity|protein binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3) 34 AGTCAGGCGCATAGAGCACCT 0.567000 OREG0021855 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 29 58 0 0 1 0 0 HMGCLL1 54511 broad.mit.edu 37 6 55406860 55406860 + Nonsense_Mutation SNP T T A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr6:55406860T>A ENST00000398661.2 - 3 408 c.277A>T c.(277-279)Aag>Tag p.K93* HMGCLL1_ENST00000274901.4_Nonsense_Mutation_p.K63*|HMGCLL1_ENST00000370850.2_Nonsense_Mutation_p.K63*|HMGCLL1_ENST00000308161.4_Nonsense_Mutation_p.K63*|HMGCLL1_ENST00000428842.1_Nonsense_Mutation_p.K63*|HMGCLL1_ENST00000508459.1_Nonsense_Mutation_p.K63* NM_019036.2 NP_061909.2 Q8TB92 HMGC2_HUMAN 3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1 93 hydroxymethylglutaryl-CoA lyase activity|metal ion binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 31 Lung NSC(77;0.0875) LUSC - Lung squamous cell carcinoma(124;0.23) AAAACTACCTTTTCATTCTGC 0.308000 18 17 0 0 1 0 0 ANK2 287 broad.mit.edu 37 4 114290802 114290802 + Silent SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr4:114290802C>T ENST00000357077.4 + 43 11504 c.11451C>T c.(11449-11451)tcC>tcT p.S3817S ANK2_ENST00000394537.3_Silent_p.S1732S|ANK2_ENST00000506722.1_Silent_p.S1723S|ANK2_ENST00000510275.2_Silent_p.S384S|ANK2_ENST00000264366.6_Silent_p.S3784S|ANK2_ENST00000509550.1_Silent_p.S908S NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 3784 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) CCCCAACATCCAGCGAGCGGG 0.567000 35 46 0 0 1 0 0 IFNE 338376 broad.mit.edu 37 9 21481263 21481263 + Missense_Mutation SNP A A C TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr9:21481263A>C ENST00000448696.3 - 1 1049 c.431T>G c.(430-432)gTt>gGt p.V144G MIR31HG_ENST00000304425.3_RNA NM_176891.4 NP_795372.1 Q86WN2 IFNE_HUMAN interferon, epsilon 144 defense response|response to virus extracellular space cytokine activity|cytokine receptor binding large_intestine(2)|lung(1)|skin(1) 4 GTACATTTTAACTTGTAATCT 0.438000 79 47 0 0 1 0 0 CATSPERB 79820 broad.mit.edu 37 14 92091262 92091262 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr14:92091262G>A ENST00000256343.3 - 18 1988 c.1832C>T c.(1831-1833)cCc>cTc p.P611L NM_024764.2 NP_079040.2 Q9H7T0 CTSRB_HUMAN catsper channel auxiliary subunit beta 611 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2) 54 all_cancers(154;0.0663)|all_epithelial(191;0.236) TAATCCAAAGGGCTCTTTCAT 0.353000 12 23 0 0 1 0 0 GIMAP8 155038 broad.mit.edu 37 7 150174830 150174830 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr7:150174830G>A ENST00000307271.3 + 5 2534 c.1960G>A c.(1960-1962)Gaa>Aaa p.E654K NM_175571.2 NP_783161.1 Q8ND71 GIMA8_HUMAN GTPase, IMAP family member 8 654 endoplasmic reticulum|Golgi apparatus|mitochondrion GTP binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) GTCCCAAGCCGAAAAACTCCT 0.463000 35 51 0 0 1 0 0 ANKRD24 170961 broad.mit.edu 37 19 4222685 4222685 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr19:4222685G>A ENST00000600132.1 + 20 3466 c.3190G>A c.(3190-3192)Gaa>Aaa p.E1064K ANKRD24_ENST00000262970.5_Missense_Mutation_p.E1154K|ANKRD24_ENST00000318934.4_Missense_Mutation_p.E1064K NM_133475.1 NP_597732.1 Q8TF21 ANR24_HUMAN ankyrin repeat domain 24 1064 endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1) 21 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181) ACTCTCCAAAGAAGTCTTCAA 0.597000 7 14 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13923485 13923485 + Silent SNP G G A rs145920072 byFrequency TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr5:13923485G>A ENST00000265104.4 - 4 446 c.342C>T c.(340-342)ttC>ttT p.F114F NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 114 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CCTCGGTCACGAACACCTTAG 0.433000 Kartagener syndrome 46 90 0 0 1 0 0 PRKACG 5568 broad.mit.edu 37 9 71628154 71628154 + Silent SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr9:71628154G>A ENST00000377276.2 - 1 885 c.855C>T c.(853-855)ctC>ctT p.L285L NM_002732.3 NP_002723.2 P22612 KAPCG_HUMAN protein kinase, cAMP-dependent, catalytic, gamma 285 Protein kinase. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport cytosol|nucleoplasm ATP binding|cAMP-dependent protein kinase activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 22 CCCCGTTCCTGAGGTTTCCGA 0.572000 41 30 0 0 1 0 0 TGM6 343641 broad.mit.edu 37 20 2411598 2411598 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr20:2411598C>T ENST00000202625.2 + 12 1953 c.1892C>T c.(1891-1893)cCc>cTc p.P631L TGM6_ENST00000381423.1_Intron NM_198994.2 NP_945345.2 O95932 TGM3L_HUMAN transglutaminase 6 631 cell death|peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4) 52 L-Glutamine(DB00130) GTAGTCAACCCCCTCATAGAG 0.612000 47 75 0 0 1 0 0 ELOVL1 64834 broad.mit.edu 37 1 43830935 43830935 + Silent SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr1:43830935C>T ENST00000372458.3 - 3 276 c.159G>A c.(157-159)cgG>cgA p.R53R ELOVL1_ENST00000470769.1_5'UTR|ELOVL1_ENST00000413844.2_Silent_p.R53R NM_001256399.1|NM_001256402.1|NM_022821.3 NP_001243328.1|NP_001243331.1|NP_073732.1 Q9BW60 ELOV1_HUMAN ELOVL fatty acid elongase 1 53 fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|sphingolipid biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process integral to endoplasmic reticulum membrane fatty acid elongase activity|protein binding endometrium(1)|kidney(1)|large_intestine(1)|prostate(1) 4 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) GGAAGGGCTTCCGATTAGCCA 0.562000 12 18 0 0 1 0 0 FNBP4 23360 broad.mit.edu 37 11 47744695 47744695 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr11:47744695G>A ENST00000263773.5 - 15 2650 c.2638C>T c.(2638-2640)Cca>Tca p.P880S NM_015308.2 NP_056123.2 Q8N3X1 FNBP4_HUMAN formin binding protein 4 880 NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 44 ACTCCAATTGGGACAGAACAT 0.537000 25 35 0 0 1 0 0 VCL 7414 broad.mit.edu 37 10 75854133 75854133 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr10:75854133C>T ENST00000211998.4 + 11 1551 c.1457C>T c.(1456-1458)cCg>cTg p.P486L VCL_ENST00000478896.2_Intron|VCL_ENST00000417648.2_Intron|VCL_ENST00000372755.3_Missense_Mutation_p.P486L NM_014000.2 NP_054706.1 P18206 VINC_HUMAN vinculin 486 3 X 112 AA tandem repeats.|N-terminal globular head. adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface costamere|cytosol|extracellular region|focal adhesion actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity VCL/ALK(4) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 20 Prostate(51;0.0112) AACAGCAGACCGGCCAAAGCA 0.577000 16 23 0 0 1 0 0 CACNA1I 8911 broad.mit.edu 37 22 40075862 40075862 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr22:40075862G>A ENST00000336649.4 + 36 5548 c.5548G>A c.(5548-5550)Gac>Aac p.D1850N CACNA1I_ENST00000407673.1_Missense_Mutation_p.D1809N|CACNA1I_ENST00000404898.1_Missense_Mutation_p.D1809N|CACNA1I_ENST00000402142.3_Missense_Mutation_p.D1844N|CACNA1I_ENST00000401624.1_Missense_Mutation_p.D1844N|CACNA1I_ENST00000400164.3_Missense_Mutation_p.D1809N Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, alpha 1I subunit 1844 axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) GTGTCACCACGACAAGCAAGA 0.642000 7 13 0 0 1 0 0 ADAM21P1 145241 broad.mit.edu 37 14 70714181 70714181 + RNA SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr14:70714181C>T ENST00000530196.1 - 0 337 NR_003951.1 GTCCCCAAACCGCAGACTATA 0.522000 5 99 0 0 1 0 0 SLCO1A2 6579 broad.mit.edu 37 12 21422497 21422497 + Silent SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr12:21422497C>T ENST00000307378.6 - 16 2718 c.1998G>A c.(1996-1998)ttG>ttA p.L666L SLCO1A2_ENST00000537524.1_Silent_p.L534L|SLCO1A2_ENST00000452078.1_Silent_p.L666L|SLCO1A2_ENST00000458504.1_Silent_p.L534L NM_134431.3 NP_602307.1 P46721 SO1A2_HUMAN solute carrier organic anion transporter family, member 1A2 666 bile acid metabolic process|sodium-independent organic anion transport integral to membrane|plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1) 48 ATTTAGTTTTCAATTCATCAT 0.299000 22 49 0 0 1 0 0 PLEKHA6 22874 broad.mit.edu 37 1 204199581 204199581 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr1:204199581C>T ENST00000272203.3 - 18 2859 c.2543G>A c.(2542-2544)aGc>aAc p.S848N PLEKHA6_ENST00000414478.1_Missense_Mutation_p.S868N NM_014935.4 NP_055750.2 Q9Y2H5 PKHA6_HUMAN pleckstrin homology domain containing, family A member 6 848 breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_cancers(21;0.0222)|Breast(84;0.179) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229) GGGGGCCGGGCTGGCCGGGAG 0.657000 6 7 0 0 1 0 0 TAF4B 6875 broad.mit.edu 37 18 23866290 23866290 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr18:23866290G>A ENST00000269142.5 + 7 2415 c.1417G>A c.(1417-1419)Gaa>Aaa p.E473K TAF4B_ENST00000400466.2_Missense_Mutation_p.E473K|TAF4B_ENST00000578121.1_Missense_Mutation_p.E473K NM_005640.1 NP_005631.1 Q92750 TAF4B_HUMAN TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa 473 transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|nucleolus|transcription factor TFIID complex DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1) 29 all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124) Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267) AACTTTTGGAGAAACTTCAGG 0.468000 25 42 0 0 1 0 0 MARC1 64757 broad.mit.edu 37 1 220986731 220986731 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr1:220986731G>A ENST00000366910.5 + 7 1171 c.985G>A c.(985-987)Gga>Aga p.G329R MARC1_ENST00000496110.1_3'UTR NM_022746.3 NP_073583.3 Q5VT66 MOSC1_HUMAN mitochondrial amidoxime reducing component 1 329 MOSC. molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding CATCAAAGTGGGAGACCCTGT 0.438000 42 76 0 0 1 0 0 ZNF284 342909 broad.mit.edu 37 19 44591032 44591032 + Silent SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr19:44591032C>T ENST00000421176.3 + 5 1617 c.1401C>T c.(1399-1401)gcC>gcT p.A467A ZNF223_ENST00000591793.1_3'UTR NM_001037813.2 NP_001032902.1 Q2VY69 ZN284_HUMAN zinc finger protein 284 467 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1) 15 Prostate(69;0.0435) TCAGGTGGGCCTCAGGTATTT 0.423000 25 37 0 0 1 0 0 GMIP 51291 broad.mit.edu 37 19 19744891 19744891 + Silent SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr19:19744891G>A ENST00000203556.4 - 19 2330 c.2193C>T c.(2191-2193)atC>atT p.I731I GMIP_ENST00000445806.2_Silent_p.I702I|GMIP_ENST00000587238.1_Silent_p.I705I NM_016573.2 NP_057657.2 Q9P107 GMIP_HUMAN GEM interacting protein 731 Rho-GAP. negative regulation of Rho GTPase activity|small GTPase mediated signal transduction cytosol metal ion binding|protein binding|Rho GTPase activator activity breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 AGGTGACAGGGATGGCGCTGG 0.612000 35 77 0 0 1 0 0 TRBV5-1 28614 broad.mit.edu 37 7 142020932 142020932 + RNA SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr7:142020932C>T ENST00000390381.3 + 0 348 TGCTTTGTCTCCTGGGAGCAG 0.607000 7 9 0 0 1 0 0 C1orf159 54991 broad.mit.edu 37 1 1018302 1018302 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr1:1018302G>A ENST00000448924.1 - 11 1545 c.1114C>T c.(1114-1116)Ccg>Tcg p.P372S C1orf159_ENST00000379319.1_Missense_Mutation_p.P190S|C1orf159_ENST00000421241.2_Missense_Mutation_p.P190S|C1orf159_ENST00000294576.5_Missense_Mutation_p.P336S|C1orf159_ENST00000379339.1_Missense_Mutation_p.P372S|C1orf159_ENST00000379320.1_Missense_Mutation_p.P336S Q96HA4 CA159_HUMAN chromosome 1 open reading frame 159 372 integral to membrane 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;2.96e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.77e-22)|Colorectal(212;6.51e-05)|COAD - Colon adenocarcinoma(227;0.000214)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205) GCCTCCCCCGGGAAGGCAGCG 0.697000 5 9 0 0 1 0 0 ARFGAP3 26286 broad.mit.edu 37 22 43243591 43243591 + Silent SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr22:43243591G>A ENST00000263245.5 - 2 336 c.117C>T c.(115-117)acC>acT p.T39T ARFGAP3_ENST00000437119.2_Silent_p.T39T|ARFGAP3_ENST00000429508.2_Silent_p.T39T|PACSIN2_ENST00000496919.1_5'UTR NM_001142293.1|NM_014570.4 NP_001135765.1|NP_055385.3 Q9NP61 ARFG3_HUMAN ADP-ribosylation factor GTPase activating protein 3 39 Arf-GAP. intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport cytosol|Golgi membrane ARF GTPase activator activity|protein transporter activity|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1) 11 ACACTCCATAGGTTATGCTTG 0.393000 14 26 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25490691 25490691 + RNA SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr15:25490691G>A ENST00000453082.2 + 0 2719 SNORD115-41_ENST00000363608.1_RNA NR_003343.1 TGCTCAATAGGATTACGCTGA 0.502000 133 264 0 0 1 0 0 FLRT2 23768 broad.mit.edu 37 14 86088099 86088099 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr14:86088099C>T ENST00000330753.4 + 2 1008 c.241C>T c.(241-243)Cct>Tct p.P81S FLRT2_ENST00000554746.1_Missense_Mutation_p.P81S NM_013231.4 NP_037363.1 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 81 cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 73 BRCA - Breast invasive adenocarcinoma(234;0.0319) TGCTGGATTTCCTGCAGAACT 0.488000 49 80 0 0 1 0 0 HNRNPL 3191 broad.mit.edu 37 19 39336517 39336517 + Silent SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr19:39336517C>T ENST00000221419.5 - 3 966 c.600G>A c.(598-600)ctG>ctA p.L200L HNRNPL_ENST00000600873.1_Silent_p.L67L NM_001533.2 NP_001524.2 P14866 HNRPL_HUMAN heterogeneous nuclear ribonucleoprotein L 200 RRM 2. nuclear mRNA splicing, via spliceosome cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 30 all_cancers(60;6.83e-06)|Ovarian(47;0.0454) Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575) AAATGGGGTTCAGGATGGTAA 0.537000 42 63 0 0 1 0 0 TMEM37 140738 broad.mit.edu 37 2 120194857 120194857 + Silent SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr2:120194857C>T ENST00000306406.4 + 2 449 c.414C>T c.(412-414)tcC>tcT p.S138S TMEM37_ENST00000409826.1_Silent_p.S150S|TMEM37_ENST00000465296.1_3'UTR NM_183240.2 NP_899063.2 Q8WXS4 CCGL_HUMAN transmembrane protein 37 138 integral to membrane calcium channel activity|voltage-gated ion channel activity breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 11 TCGTCCTCTCCTCCGGCGGGC 0.557000 211 56 0 0 1 0 0 RUNX1T1 862 broad.mit.edu 37 8 92982996 92982996 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr8:92982996C>T ENST00000523629.1 - 11 1883 c.1429G>A c.(1429-1431)Gac>Aac p.D477N RUNX1T1_ENST00000422361.2_Missense_Mutation_p.D440N|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.D488N|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.D450N|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.D440N|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.D477N|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.D440N|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.D450N NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2 NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1 Q06455 MTG8_HUMAN runt-related transcription factor 1; translocated to, 1 (cyclin D-related) 477 generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 86 BRCA - Breast invasive adenocarcinoma(11;0.0141) GTGATCATGTCGTGGGCTTTC 0.627000 20 36 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7585391 7585391 + Silent SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr6:7585391C>T ENST00000379802.3 + 24 8237 c.7896C>T c.(7894-7896)tcC>tcT p.S2632S DSP_ENST00000418664.2_Silent_p.S2033S NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 2632 Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) AGAAAATCTCCATTACAGAAG 0.517000 46 77 0 0 1 0 0 PIP4K2B 8396 broad.mit.edu 37 17 36925970 36925970 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr17:36925970C>T ENST00000269554.3 - 10 1705 c.1225G>A c.(1225-1227)Gag>Aag p.E409K NM_003559.4 NP_003550.1 P78356 PI42B_HUMAN phosphatidylinositol-5-phosphate 4-kinase, type II, beta 409 PIPK. cell surface receptor linked signaling pathway endoplasmic reticulum membrane|plasma membrane 1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1) 19 GACATAAACTCGTTGAAGCGT 0.527000 73 130 0 0 1 0 0 ITIH5 80760 broad.mit.edu 37 10 7618599 7618599 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr10:7618599C>T ENST00000256861.6 - 10 1873 c.1795G>A c.(1795-1797)Gag>Aag p.E599K ITIH5_ENST00000298441.6_Missense_Mutation_p.E385K|ITIH5_ENST00000397145.2_Missense_Mutation_p.E599K|ITIH5_ENST00000446830.2_Missense_Mutation_p.E381K|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397146.2_Missense_Mutation_p.E599K NM_030569.6 NP_085046.5 Q86UX2 ITIH5_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 5 599 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3) 75 CGCAGCCGCTCCTTCTCCGGT 0.637000 27 51 0 0 1 0 0 EPHA6 285220 broad.mit.edu 37 3 96706361 96706361 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr3:96706361G>A ENST00000389672.5 + 3 676 c.638G>A c.(637-639)gGg>gAg p.G213E EPHA6_ENST00000542517.1_Missense_Mutation_p.G119E|EPHA6_ENST00000470610.2_Missense_Mutation_p.G213E NM_001080448.2 NP_001073917.2 Q9UF33 EPHA6_HUMAN EPH receptor A6 118 integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 TGGGTCTTGGGGACTTGCAAA 0.398000 45 88 0 0 1 0 0 ZNF670 93474 broad.mit.edu 37 1 247201647 247201647 + Silent SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr1:247201647G>A ENST00000366503.2 - 4 432 c.274C>T c.(274-276)Ctg>Ttg p.L92L NM_001204220.1|NM_033213.4 NP_001191149.1|NP_149990.1 Q9BS34 ZN670_HUMAN zinc finger protein 670 92 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 17 all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00427) TTCTTATTCAGATTCAAATTT 0.383000 47 87 0 0 1 0 0 NCEH1 57552 broad.mit.edu 37 3 172351831 172351831 + Missense_Mutation SNP A A C TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr3:172351831A>C ENST00000475381.1 - 5 894 c.661T>G c.(661-663)Tat>Gat p.Y221D NCEH1_ENST00000538775.1_Missense_Mutation_p.Y261D|NCEH1_ENST00000543711.1_Missense_Mutation_p.Y88D|NCEH1_ENST00000273512.3_Missense_Mutation_p.Y253D Q6PIU2 NCEH1_HUMAN neutral cholesterol ester hydrolase 1 221 lipid catabolic process endoplasmic reticulum|integral to membrane|microsome carboxylesterase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1) 15 AGAACTGGATAAATTAAAGCT 0.373000 18 30 0 0 1 0 0 RIMS1 22999 broad.mit.edu 37 6 72945378 72945378 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr6:72945378C>T ENST00000264839.7 + 8 1804 c.1804C>T c.(1804-1806)Ctt>Ttt p.L602F RIMS1_ENST00000517827.1_Missense_Mutation_p.L61F|RIMS1_ENST00000348717.5_Missense_Mutation_p.L602F|RIMS1_ENST00000523963.1_Missense_Mutation_p.L76F|RIMS1_ENST00000522291.1_Missense_Mutation_p.L602F|RIMS1_ENST00000425662.2_5'UTR|RIMS1_ENST00000521978.1_Missense_Mutation_p.L602F|RIMS1_ENST00000520567.1_Missense_Mutation_p.L602F|RIMS1_ENST00000401910.3_Missense_Mutation_p.L76F|RIMS1_ENST00000518273.1_Missense_Mutation_p.L602F|RIMS1_ENST00000491071.2_Missense_Mutation_p.L602F|RIMS1_ENST00000517960.1_Missense_Mutation_p.L602F Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 602 calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 102 all_epithelial(107;0.179)|all_hematologic(105;0.212) ACGTGTTATTCTTAACAAGAG 0.368000 7 3 0 0 1 0 0 PTGES3L-AARSD1 100885850 broad.mit.edu 37 17 41108328 41108328 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr17:41108328G>A ENST00000421990.2 - 11 1423 c.1078C>T c.(1078-1080)Cgg>Tgg p.R360W PTGES3L-AARSD1_ENST00000360221.4_Missense_Mutation_p.R299W|PTGES3L-AARSD1_ENST00000409103.1_Missense_Mutation_p.R269W|PTGES3L-AARSD1_ENST00000409399.1_Missense_Mutation_p.R360W|AARSD1_ENST00000427569.2_Missense_Mutation_p.R186W NM_001136042.2 NP_001129514.2 GGCAAACCCCGGCCACTCACC 0.542000 30 37 0 0 1 0 0 CHEK2P2 646096 broad.mit.edu 37 15 20489461 20489461 + RNA SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr15:20489461C>T ENST00000555186.1 + 0 449 NR_038836.1 AACACAACTTCATTCCTAAAG 0.428000 7 31 0 0 1 0 0 GOLGA2P9 440518 broad.mit.edu 37 19 22785641 22785641 + RNA SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr19:22785641C>T ENST00000600260.1 + 0 1648 NR_033899.1 GGAGCAGCACCGAGAGGAGGA 0.667000 9 25 0 0 1 0 0 FCHO2 115548 broad.mit.edu 37 5 72370607 72370607 + Nonsense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr5:72370607C>T ENST00000430046.2 + 20 1734 c.1618C>T c.(1618-1620)Cag>Tag p.Q540* FCHO2_ENST00000341845.6_Nonsense_Mutation_p.Q540*|FCHO2_ENST00000512348.1_Nonsense_Mutation_p.Q507* NM_001146032.1|NM_138782.2 NP_001139504.1|NP_620137.2 Q0JRZ9 FCHO2_HUMAN FCH domain only 2 540 cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1) 17 Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165) OV - Ovarian serous cystadenocarcinoma(47;4.6e-53) CCTTGGAAATCAGGATACCTT 0.378000 16 11 0 0 1 0 0 PLD2 5338 broad.mit.edu 37 17 4711379 4711379 + Silent SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr17:4711379G>A ENST00000263088.6 + 3 341 c.210G>A c.(208-210)gtG>gtA p.V70V PLD2_ENST00000572940.1_Silent_p.V70V NM_001243108.1|NM_002663.4 NP_001230037.1|NP_002654.3 O14939 PLD2_HUMAN phospholipase D2 70 PX. cell communication|cytoskeleton organization|small GTPase mediated signal transduction NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2) 31 Choline(DB00122) CCCAGGTGGTGGGCACCGAAA 0.632000 41 62 0 0 1 0 0 KIAA1324 57535 broad.mit.edu 37 1 109714590 109714590 + Silent SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr1:109714590C>T ENST00000369939.3 + 4 753 c.570C>T c.(568-570)aaC>aaT p.N190N KIAA1324_ENST00000529753.1_Silent_p.N190N NM_020775.4 NP_065826.2 Q6UXG2 K1324_HUMAN KIAA1324 190 macroautophagy|positive regulation of vacuole organization|regulation of apoptosis integral to plasma membrane NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063) Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249) GCACCGTTAACTTCGAATACT 0.542000 58 106 0 0 1 0 0 TPH2 121278 broad.mit.edu 37 12 72338092 72338092 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr12:72338092G>A ENST00000333850.3 + 3 415 c.274G>A c.(274-276)Gtt>Att p.V92I TPH2_ENST00000546576.1_3'UTR NM_173353.3 NP_775489.2 Q8IWU9 TPH2_HUMAN tryptophan hydroxylase 2 92 ACT. aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process cytosol amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 41 L-Tryptophan(DB00150) TGTCAACATGGTTCATATTGA 0.408000 25 51 0 0 1 0 0 NPSR1 387129 broad.mit.edu 37 7 34889186 34889186 + Missense_Mutation SNP A A G TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr7:34889186A>G ENST00000381539.3 + 10 1139 c.1135A>G c.(1135-1137)Atc>Gtc p.I379V NPSR1_ENST00000359791.1_Intron|NPSR1_ENST00000531252.1_Intron|NPSR1_ENST00000381542.1_Silent_p.R279R|NPSR1_ENST00000360581.1_Silent_p.R345R Q6W5P4 NPSR1_HUMAN neuropeptide S receptor 1 0 cytoplasm|integral to membrane|plasma membrane vasopressin receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7) 31 Halothane(DB01159) GGGAGCAAAGATCACAGGATT 0.428000 47 85 0 0 1 0 0 NYNRIN 57523 broad.mit.edu 37 14 24885107 24885107 + Silent SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr14:24885107C>T ENST00000382554.3 + 9 4470 c.4152C>T c.(4150-4152)ctC>ctT p.L1384L NM_025081.2 NP_079357.2 Q9P2P1 NYNRI_HUMAN NYN domain and retroviral integrase containing 1384 DNA integration integral to membrane DNA binding breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 TCTTCAGCCTCCTGTGGGAGC 0.627000 46 84 0 0 1 0 0 GPCPD1 56261 broad.mit.edu 37 20 5545700 5545700 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr20:5545700G>A ENST00000379019.4 - 15 1504 c.1292C>T c.(1291-1293)tCc>tTc p.S431F GPCPD1_ENST00000481038.1_5'UTR NM_019593.3 NP_062539.1 Q9NPB8 GPCP1_HUMAN glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae) 431 GDPD. glycerol metabolic process|lipid metabolic process carbohydrate binding|glycerophosphodiester phosphodiesterase activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1) 16 TTCTGAAAAGGAATTTTCCTC 0.323000 30 56 0 0 1 0 0 PTBP2 58155 broad.mit.edu 37 1 97270403 97270420 + In_Frame_Del DEL GCAGCTGCTGCAGCTGCT GCAGCTGCTGCAGCTGCT - rs491654 TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr1:97270403_97270420delGCAGCTGCTGCAGCTGCT ENST00000236228.6 + 9 1034_1051 c.952_969delGCAGCTGCTGCAGCTGCT c.(952-969)del p.AAAAAA318del PTBP2_ENST00000426398.2_In_Frame_Del_p.AAAAAA318del|PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000370197.1_In_Frame_Del_p.AAAAAA323del|PTBP2_ENST00000394184.3_In_Frame_Del_p.AAAAAA334del|PTBP2_ENST00000541987.1_In_Frame_Del_p.AAAAAA287del|PTBP2_ENST00000370198.1_In_Frame_Del_p.AAAAAA323del NM_021190.2 NP_067013.1 Q9UKA9 PTBP2_HUMAN polypyrimidine tract binding protein 2 318 Poly-Ala. nucleotide binding p.A322V(1) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1) 26 all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171) all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202) tgctgctgcagcagctgctgcagctgctgctgGCCGAG 0.450 25 32 --- --- --- --- IGSF10 285313 broad.mit.edu 37 3 151160920 151160920 + Frame_Shift_Del DEL T T - TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr3:151160920delT ENST00000282466.3 - 5 5814 c.5815delA c.(5815-5817)ccfs p.T1939fs NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 1939 cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) CTGGGGCTGGTCACTCGCTCT 0.498 56 98 --- --- --- --- EBF2 64641 broad.mit.edu 37 8 25747315 25747315 + Frame_Shift_Del DEL T T - TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr8:25747315delT ENST00000520164.1 - 8 1241 c.704delA c.(703-705)acfs p.N236fs EBF2_ENST00000408929.3_Frame_Shift_Del_p.N88fs NM_022659.3 NP_073150.2 Q9HAK2 COE2_HUMAN early B-cell factor 2 236 Interaction with DNA (By similarity). multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 39 all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845) UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738) CTTGGAGTTGTTATGAACAAA 0.463 37 47 --- --- --- --- CISD1 55847 broad.mit.edu 37 10 60036937 60036960 + In_Frame_Del DEL ACAAAAGATTTTATGTTAAAGATC ACAAAAGATTTTATGTTAAAGATC - TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr10:60036937_60036960delACAAAAGATTTTATGTTAAAGATC ENST00000333926.5 + 2 308_331 c.92_115delACAAAAGATTTTATGTTAAAGATC c.(91-117)tat>t p.YKRFYVKDH31del CISD1_ENST00000488388.2_3'UTR NM_018464.4 NP_060934.1 Q9NZ45 CISD1_HUMAN CDGSH iron sulfur domain 1 31 integral to membrane|mitochondrial outer membrane 2 iron, 2 sulfur cluster binding|metal ion binding breast(1) 1 TATCTAGCTTACAAAAGATTTTATGTTAAAGATCATCGAAATAA 0.379 15 43 --- --- --- --- NRBF2 29982 broad.mit.edu 37 10 64913690 64913690 + Frame_Shift_Del DEL A A - TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr10:64913690delA ENST00000277746.6 + 4 757 c.576delA c.(574-576)ttfs p.L192fs NRBF2_ENST00000435510.2_Frame_Shift_Del_p.L182fs NM_030759.3 NP_110386.2 Q96F24 NRBF2_HUMAN nuclear receptor binding factor 2 192 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent cytoplasm|nucleoplasm protein binding large_intestine(2)|lung(3)|skin(1) 6 Prostate(12;0.0119)|all_hematologic(501;0.191) ATGAAAGATTAAGGAAAGAAA 0.383 14 23 --- --- --- --- ARID2 196528 broad.mit.edu 37 12 46205267 46205282 + Frame_Shift_Del DEL TCCAAAGCCACAGCTT TCCAAAGCCACAGCTT - rs138168440 by1000genomes TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr12:46205267_46205282delTCCAAAGCCACAGCTT ENST00000334344.6 + 4 523_538 c.351_366delTCCAAAGCCACAGCTT c.(349-366)aafs p.NPKPQL117fs ARID2_ENST00000422737.1_5'UTR NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 117 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) CACCAGGCAATCCAAAGCCACAGCTTCCTATTGGTG 0.398 """N, S, F""" hepatocellular carcinoma 10 26 --- --- --- --- ARID2 196528 broad.mit.edu 37 12 46287206 46287218 + Frame_Shift_Del DEL GCCAACTGTAGGG GCCAACTGTAGGG - rs11553485 TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr12:46287206_46287218delGCCAACTGTAGGG ENST00000334344.6 + 19 5323_5335 c.5151_5163delGCCAACTGTAGGG c.(5149-5163)cafs p.QPTVG1717fs ARID2_ENST00000444670.1_Frame_Shift_Del_p.QPTVG1327fs|ARID2_ENST00000457135.1_Frame_Shift_Del_p.QPTVG325fs|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Frame_Shift_Del_p.QPTVG1568fs NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 1717 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) AATTTAGGCAGCCAACTGTAGGGGGCACAAGCT 0.479 """N, S, F""" hepatocellular carcinoma 8 13 --- --- --- --- DNM1P47 100216544 broad.mit.edu 37 15 102293062 102293064 + RNA DEL CTC CTC - rs4965539 TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr15:102293062_102293064delCTC ENST00000561463.1 + 0 1108_1110 AGTTCATCTTCTCAGAGCTGCTG 0.576 2 4 --- --- --- --- FAM192A 80011 broad.mit.edu 37 16 57206236 57206238 + In_Frame_Del DEL TCA TCA - TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr16:57206236_57206238delTCA ENST00000309137.8 - 4 531_533 c.273_275delTGA c.(271-276)gag>ga p.DE91del FAM192A_ENST00000564108.1_In_Frame_Del_p.DE91del|FAM192A_ENST00000566077.1_In_Frame_Del_p.DE14del|FAM192A_ENST00000389447.5_In_Frame_Del_p.DE91del|FAM192A_ENST00000569266.1_In_Frame_Del_p.DE91del|FAM192A_ENST00000567439.1_In_Frame_Del_p.DE91del NM_024946.2 NP_079222.1 Q9GZU8 F192A_HUMAN family with sequence similarity 192, member A 91 nucleus endometrium(2)|large_intestine(3)|lung(4)|prostate(2) 11 TCGAGAAACCTCATCAAGGAAGT 0.379 22 47 --- --- --- --- KMT2B 9757 broad.mit.edu 37 19 36224124 36224124 + Frame_Shift_Del DEL C C - TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c62ed25-d935-4c22-af1b-266892c073ae b6a886dc-bac5-433c-b507-9118579ac647 g.chr19:36224124delC ENST00000420124.1 + 28 6674 c.6674delC c.(6673-6675)tcfs p.S2225fs KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000222270.7_Frame_Shift_Del_p.S2225fs CCCACCATTTCCCCCACGGCT 0.672 2 4 --- --- --- ---