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 CLSPN 63967 broad.mit.edu 37 1 36230223 36230223 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:36230223G>A ENST00000251195.5 - 3 322 c.226C>T c.(226-228)Cca>Tca p.P76S CLSPN_ENST00000520551.1_Missense_Mutation_p.P76S|CLSPN_ENST00000318121.3_Missense_Mutation_p.P76S|CLSPN_ENST00000373220.3_Missense_Mutation_p.P76S Q9HAW4 CLSPN_HUMAN claspin 76 activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation nucleoplasm anaphase-promoting complex binding|DNA binding NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 56 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) GTTTTCTCTGGAGAGGCATTT 0.373000 14 44 0 0 0.000566183 0 0 IZUMO2 126123 broad.mit.edu 37 19 50657946 50657946 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr19:50657946C>T ENST00000293405.3 - 6 534 c.534G>A c.(532-534)atG>atA p.M178I NM_152358.2 NP_689571.2 Q6UXV1 IZUM2_HUMAN IZUMO family member 2 178 integral to membrane cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1) 7 ATTTGCTGTCCATCTGGTACT 0.612000 5 64 0 0 0.000602214 0 0 ATP8B4 79895 broad.mit.edu 37 15 50215620 50215620 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr15:50215620G>A ENST00000284509.6 - 17 1855 c.1714C>T c.(1714-1716)Cct>Tct p.P572S ATP8B4_ENST00000559829.1_Missense_Mutation_p.P572S NM_024837.2 NP_079113.2 Q8TF62 AT8B4_HUMAN ATPase, class I, type 8B, member 4 572 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) TCATTGGAAGGATGAAGTTTT 0.408000 11 29 0 0 0.00136819 0 0 APOB 338 broad.mit.edu 37 2 21225135 21225135 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr2:21225135C>T ENST00000233242.1 - 29 13286 c.13159G>A c.(13159-13161)Gaa>Aaa p.E4387K NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 4387 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) TCAAAATATTCTTCACGAAGG 0.358000 206 507 0 0 0.000781405 0 0 LRRC18 474354 broad.mit.edu 37 10 50122162 50122162 + Silent SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr10:50122162G>A ENST00000374160.3 - 1 115 c.39C>T c.(37-39)atC>atT p.I13I WDFY4_ENST00000413659.2_Intron|LRRC18_ENST00000298124.3_Silent_p.I13I|WDFY4_ENST00000325239.5_Intron|RP11-523O18.7_ENST00000430438.1_RNA NM_001006939.3 NP_001006940.3 Q8N456 LRC18_HUMAN leucine rich repeat containing 18 13 cytoplasm NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 18 CCTTGAGGGTGATCTTCTTGC 0.443000 21 36 0 0 0.00278032 0 0 ACAD10 80724 broad.mit.edu 37 12 112182825 112182825 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr12:112182825C>T ENST00000455480.2 + 14 2363 c.2186C>T c.(2185-2187)tCc>tTc p.S729F ACAD10_ENST00000313698.4_Missense_Mutation_p.S698F|ACAD10_ENST00000549590.1_Missense_Mutation_p.S698F|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000392636.2_Missense_Mutation_p.S300F NM_001136538.1 NP_001130010.1 Q6JQN1 ACD10_HUMAN acyl-CoA dehydrogenase family, member 10 698 acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups p.S698F(1) NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5) 47 TGGAGCCCCTCCCCACTGATC 0.602000 13 30 0 0 0.00244969 0 0 PIK3C2B 5287 broad.mit.edu 37 1 204401437 204401437 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:204401437C>T ENST00000367187.3 - 28 4602 c.4046G>A c.(4045-4047)cGg>cAg p.R1349Q PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R1321Q|RP11-739N20.2_ENST00000443515.1_RNA NM_002646.3 NP_002637.3 O00750 P3C2B_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta 1349 cell communication|phosphatidylinositol-mediated signaling endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 52 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) GAGGGTCAGCCGGTCATCTGA 0.527000 27 93 0 0 0.00106085 0 0 AOAH 313 broad.mit.edu 37 7 36616204 36616204 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr7:36616204C>T ENST00000431169.1 - 13 1297 c.997G>A c.(997-999)Gac>Aac p.D333N AOAH_ENST00000538464.1_Missense_Mutation_p.D55N|AOAH_ENST00000535891.1_Missense_Mutation_p.D301N|AOAH_ENST00000258749.5_Missense_Mutation_p.D333N NM_001177506.1 NP_001170977.1 P28039 AOAH_HUMAN acyloxyacyl hydrolase (neutrophil) 333 inflammatory response|lipid metabolic process extracellular region acyloxyacyl hydrolase activity|lipoprotein lipase activity NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 41 TTCTGGTAGTCCCTGTGATTA 0.308000 32 161 0 0 0.00128727 0 0 USP6 9098 broad.mit.edu 37 17 5048150 5048150 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr17:5048150G>A ENST00000574788.1 + 26 4214 c.1984G>A c.(1984-1986)Gct>Act p.A662T USP6_ENST00000332776.4_Missense_Mutation_p.A662T|USP6_ENST00000304328.5_Missense_Mutation_p.A345T|USP6_ENST00000250066.6_Missense_Mutation_p.A662T P35125 UBP6_HUMAN ubiquitin specific peptidase 6 (Tre-2 oncogene) 662 protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 CTGGGAAGTAGCTGCAGAGGT 0.408000 T """COL1A1, CDH11, ZNF9, OMD""" aneurysmal bone cysts 17 64 0 0 0.00121646 0 0 ATP10D 57205 broad.mit.edu 37 4 47514588 47514588 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr4:47514588C>T ENST00000273859.3 + 2 300 c.31C>T c.(31-33)Cac>Tac p.H11Y ATP10D_ENST00000504445.1_Missense_Mutation_p.H11Y NM_020453.3 NP_065186.3 Q9P241 AT10D_HUMAN ATPase, class V, type 10D 11 ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 66 GGCCAGATATCACTGGCGACG 0.522000 29 53 0 0 0.00283554 0 0 NLGN4X 57502 broad.mit.edu 37 X 6069279 6069279 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chrX:6069279G>A ENST00000381095.3 - 2 856 c.229C>T c.(229-231)Ccc>Tcc p.P77S NLGN4X_ENST00000469740.1_5'UTR|NLGN4X_ENST00000381092.1_Missense_Mutation_p.P77S|NLGN4X_ENST00000275857.6_Missense_Mutation_p.P77S|NLGN4X_ENST00000381093.2_Missense_Mutation_p.P77S|NLGN4X_ENST00000538097.1_Missense_Mutation_p.P77S NM_181332.1 NP_851849.1 Q8N0W4 NLGNX_HUMAN neuroligin 4, X-linked 77 brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 81 GAGGCATAGGGGACCCCTAAG 0.542000 18 45 0 0 0.00074312 0 0 CENPT 80152 broad.mit.edu 37 16 67865769 67865769 + Silent SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr16:67865769G>A ENST00000562787.1 - 8 959 c.411C>T c.(409-411)ctC>ctT p.L137L CENPT_ENST00000445712.2_Silent_p.L34L|CENPT_ENST00000564817.1_Silent_p.L137L|CENPT_ENST00000562947.1_5'UTR|CENPT_ENST00000440851.2_Silent_p.L137L|CENPT_ENST00000219172.3_Silent_p.L137L NM_025082.3 NP_079358.3 Q96BT3 CENPT_HUMAN centromere protein T 137 mitotic prometaphase condensed chromosome kinetochore|cytosol|nucleus DNA binding NS(1)|breast(2)|lung(6)|urinary_tract(1) 10 Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124) TGGGGGGCTCGAGCTCAGGAA 0.577000 17 22 0 0 0.00121646 0 0 ECM1 1893 broad.mit.edu 37 1 150484121 150484121 + Silent SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:150484121C>T ENST00000369047.4 + 7 1022 c.897C>T c.(895-897)ttC>ttT p.F299F ECM1_ENST00000369049.4_Silent_p.F326F|ECM1_ENST00000346569.6_Intron|ECM1_ENST00000470432.1_3'UTR NM_004425.3 NP_004416.2 Q16610 ECM1_HUMAN extracellular matrix protein 1 299 2 X approximate repeats. angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade proteinaceous extracellular matrix laminin binding|protease binding|protein C-terminus binding|signal transducer activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1) 22 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) AGCTGCCTTTCCCTCCTGGGG 0.597000 13 42 0 0 0.00185496 0 0 SIGLECL1 284369 broad.mit.edu 37 19 51771841 51771841 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr19:51771841G>A ENST00000316401.7 + 6 965 c.584G>A c.(583-585)cGa>cAa p.R195Q CTD-3187F8.2_ENST00000597569.1_RNA|SIGLECL1_ENST00000597824.1_Missense_Mutation_p.R101Q|SIGLECL1_ENST00000593968.1_3'UTR NM_173635.1 NP_775906.1 SIGLEC family like 1 CAAGATAAACGAGCCAGCTAA 0.418000 7 36 0 0 0.000157383 0 0 NLRP4 147945 broad.mit.edu 37 19 56369333 56369333 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr19:56369333G>A ENST00000301295.6 + 3 996 c.574G>A c.(574-576)Gaa>Aaa p.E192K NLRP4_ENST00000346986.5_Missense_Mutation_p.E192K|NLRP4_ENST00000587891.1_Missense_Mutation_p.E117K NM_134444.4 NP_604393.2 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 192 NACHT. ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) CTGCTGCAGAGAACTGAGGGA 0.507000 34 80 0 0 0.00058488 0 0 MMP3 4314 broad.mit.edu 37 11 102710983 102710983 + Splice_Site SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr11:102710983C>T ENST00000299855.5 - 6 1047 c.790_splice c.e6-1 p.G264_splice NM_002422.3 NP_002413.1 P08254 MMP3_HUMAN matrix metallopeptidase 3 (stromelysin 1, progelatinase) 264 collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 22 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.0142) Marimastat(DB00786)|Simvastatin(DB00641) AGGGGGAGGTCCTAAAGGGAA 0.483000 8 29 0 0 0.000157383 0 0 ERCC6L 54821 broad.mit.edu 37 X 71427199 71427199 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chrX:71427199C>T ENST00000373657.1 - 3 1651 c.1049G>A c.(1048-1050)cGa>cAa p.R350Q PIN4_ENST00000423432.2_Intron|ERCC6L_ENST00000334463.3_Missense_Mutation_p.R473Q Q2NKX8 ERC6L_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6-like 473 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol ATP binding|DNA binding|helicase activity|protein binding breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1) 38 Renal(35;0.156) TCCCTCATCTCGCAGCCTCTT 0.398000 12 55 0 0 0.00244969 0 0 P2RX7 5027 broad.mit.edu 37 12 121603181 121603181 + Silent SNP C C G TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr12:121603181C>G ENST00000328963.5 + 5 499 c.45C>G c.(43-45)gcC>gcG p.A15A P2RX7_ENST00000535250.1_Silent_p.A95A|P2RX7_ENST00000443520.3_3'UTR|P2RX7_ENST00000377162.2_Silent_p.A185A|P2RX7_ENST00000546057.1_Silent_p.A185A|P2RX7_ENST00000541446.1_5'UTR A8K2Z0 A8K2Z0_HUMAN purinergic receptor P2X, ligand-gated ion channel, 7 185 integral to membrane ATP binding|ion channel activity|receptor activity NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1) 19 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) TGAACAGTGCCGAAAACTTCA 0.552000 40 228 0 0 0.00195071 0 0 C9orf89 84270 broad.mit.edu 37 9 95872948 95872948 + Silent SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr9:95872948C>T ENST00000375464.2 + 3 377 c.249C>T c.(247-249)gcC>gcT p.A83A C9orf89_ENST00000488630.1_3'UTR NM_032310.3 NP_115686.3 Q96LW7 BINCA_HUMAN chromosome 9 open reading frame 89 83 CARD. negative regulation of I-kappaB kinase/NF-kappaB cascade cytosol|nucleus CARD domain binding endometrium(1)|kidney(1)|lung(3)|ovary(1)|skin(1) 7 TCTACCGAGCCCTGTATATCC 0.647000 24 37 0 0 0.00047179 0 0 OR52D1 390066 broad.mit.edu 37 11 5510608 5510608 + Silent SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr11:5510608C>T ENST00000322641.5 + 1 694 c.672C>T c.(670-672)atC>atT p.I224I HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA NM_001005163.2 NP_001005163.1 Q9H346 O52D1_HUMAN olfactory receptor, family 52, subfamily D, member 1 224 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 22 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ATGGCTTTATCCTCCATGCAG 0.488000 26 138 0 0 0.00127121 0 0 OR4S2 219431 broad.mit.edu 37 11 55418857 55418857 + Silent SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr11:55418857C>T ENST00000312422.2 + 1 478 c.478C>T c.(478-480)Ctg>Ttg p.L160L NM_001004059.2 NP_001004059.2 Q8NH73 OR4S2_HUMAN olfactory receptor, family 4, subfamily S, member 2 160 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_epithelial(135;0.0748) CCAAGTGGCTCTGGTAGTCCA 0.433000 63 37 0 0 0.000781405 0 0 DOCK3 1795 broad.mit.edu 37 3 51266179 51266179 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr3:51266179C>T ENST00000266037.9 + 18 1758 c.1735C>T c.(1735-1737)Cct>Tct p.P579S NM_004947.4 NP_004938.1 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 579 DHR-1. cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) CCCTAATATTCCTTCTAGCCT 0.478000 15 46 0 0 0.00244969 0 0 PRKDC 5591 broad.mit.edu 37 8 48842431 48842431 + Silent SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr8:48842431C>T ENST00000314191.2 - 18 2090 c.2034G>A c.(2032-2034)aaG>aaA p.K678K PRKDC_ENST00000338368.3_Silent_p.K678K|PRKDC_ENST00000523565.1_5'UTR NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 678 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) ATTTTATTTTCTTGGCATTTC 0.318000 Non-homologous end-joining 10 29 0 0 0.000978159 0 0 SCAMP5 192683 broad.mit.edu 37 15 75310792 75310792 + Silent SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr15:75310792G>A ENST00000361900.6 + 7 636 c.429G>A c.(427-429)acG>acA p.T143T SCAMP5_ENST00000568081.1_Silent_p.T76T|SCAMP5_ENST00000562212.1_Silent_p.T151T|SCAMP5_ENST00000545456.1_Silent_p.T72T|SCAMP5_ENST00000425597.3_Silent_p.T143T NM_001178111.1 NP_001171582.1 Q8TAC9 SCAM5_HUMAN secretory carrier membrane protein 5 143 exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane protein binding large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2) 5 TCTTCGGAACGAACATTGGCT 0.592000 54 127 0 0 0.000781405 0 0 NPHS1 4868 broad.mit.edu 37 19 36321826 36321826 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr19:36321826G>A ENST00000378910.5 - 28 3513 c.3514C>T c.(3514-3516)Cct>Tct p.P1172S NPHS1_ENST00000353632.6_Missense_Mutation_p.P1132S NM_004646.3 NP_004637.1 O60500 NPHN_HUMAN nephrosis 1, congenital, Finnish type (nephrin) 1172 Binds to NPHS2. cell adhesion|excretion|muscle organ development integral to plasma membrane p.P1172S(1) 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) AAGTGCCCAGGGAAGGCCATA 0.562000 15 51 0 0 0.00244969 0 0 CAMK1G 57172 broad.mit.edu 37 1 209785202 209785202 + Silent SNP G G A rs147599953 byFrequency TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:209785202G>A ENST00000009105.1 + 11 1226 c.981G>A c.(979-981)ccG>ccA p.P327P CAMK1G_ENST00000361322.2_Silent_p.P327P|CAMK1G_ENST00000494990.1_3'UTR Q96NX5 KCC1G_HUMAN calcium/calmodulin-dependent protein kinase IG 327 Golgi membrane|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1) 20 OV - Ovarian serous cystadenocarcinoma(81;0.0475) TGCACAGCCCGGGCGTCCGCC 0.597000 26 89 0 0 0.000586117 0 0 C9orf89 84270 broad.mit.edu 37 9 95872947 95872947 + Missense_Mutation SNP C C G TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr9:95872947C>G ENST00000375464.2 + 3 376 c.248C>G c.(247-249)gCc>gGc p.A83G C9orf89_ENST00000488630.1_3'UTR NM_032310.3 NP_115686.3 Q96LW7 BINCA_HUMAN chromosome 9 open reading frame 89 83 CARD. negative regulation of I-kappaB kinase/NF-kappaB cascade cytosol|nucleus CARD domain binding endometrium(1)|kidney(1)|lung(3)|ovary(1)|skin(1) 7 TTCTACCGAGCCCTGTATATC 0.647000 23 36 0 0 0.00278032 0 0 NELL2 4753 broad.mit.edu 37 12 44913944 44913944 + Silent SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr12:44913944C>T ENST00000429094.2 - 19 2748 c.2244G>A c.(2242-2244)gaG>gaA p.E748E NELL2_ENST00000549027.1_Silent_p.E747E|NELL2_ENST00000395487.2_Silent_p.E747E|NELL2_ENST00000437801.2_Silent_p.E798E|NELL2_ENST00000551601.1_Silent_p.E700E|NELL2_ENST00000333837.4_Silent_p.E771E|NELL2_ENST00000452445.2_Silent_p.E748E NM_001145108.1 NP_001138580.1 Q99435 NELL2_HUMAN NEL-like 2 (chicken) 748 VWFC 4. cell adhesion extracellular region calcium ion binding|protein binding|structural molecule activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 Lung SC(27;0.192) Lung NSC(34;0.144) GBM - Glioblastoma multiforme(48;0.092) AGCACTCATTCTCTGGGAGAA 0.542000 10 9 0 0 0.000442599 0 0 TRHR 7201 broad.mit.edu 37 8 110131314 110131314 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr8:110131314C>T ENST00000518632.1 + 3 1178 c.827C>T c.(826-828)gCc>gTc p.A276V TRHR_ENST00000311762.2_Missense_Mutation_p.A276V P34981 TRFR_HUMAN thyrotropin-releasing hormone receptor 276 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) ATTCTGTTTGCCCTTTTATGG 0.403000 80 175 0 0 0.000781405 0 0 VWF 7450 broad.mit.edu 37 12 6103617 6103617 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr12:6103617G>A ENST00000261405.5 - 36 6474 c.6220C>T c.(6220-6222)Ccc>Tcc p.P2074S NM_000552.3 NP_000543.2 P04275 VWF_HUMAN von Willebrand factor 2074 VWFD 4. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding p.P2074S(1) NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) AAAGTCTTGGGGCTGAGCTGC 0.428000 39 112 0 0 0.00222228 0 0 LTBP1 4052 broad.mit.edu 37 2 33525539 33525539 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr2:33525539G>A ENST00000404816.2 + 21 3610 c.3257G>A c.(3256-3258)gGg>gAg p.G1086E LTBP1_ENST00000272273.5_Missense_Mutation_p.G26E|LTBP1_ENST00000404525.1_Missense_Mutation_p.G707E|LTBP1_ENST00000498013.1_3'UTR|LTBP1_ENST00000402934.1_Missense_Mutation_p.G707E|LTBP1_ENST00000354476.3_Missense_Mutation_p.G1087E|LTBP1_ENST00000418533.2_Missense_Mutation_p.G760E|LTBP1_ENST00000390003.4_Missense_Mutation_p.G761E|LTBP1_ENST00000407925.1_Missense_Mutation_p.G760E Q14766 LTBP1_HUMAN latent transforming growth factor beta binding protein 1 1086 EGF-like 9; calcium-binding (Potential). negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) TGTCAGCAAGGGAATCTATGT 0.488000 19 44 0 0 0.00278032 0 0 EPB41L2 2037 broad.mit.edu 37 6 131276354 131276354 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr6:131276354G>A ENST00000337057.3 - 3 777 c.596C>T c.(595-597)aCc>aTc p.T199I EPB41L2_ENST00000530148.1_Intron|EPB41L2_ENST00000525271.1_Missense_Mutation_p.T199I|EPB41L2_ENST00000529208.1_Missense_Mutation_p.T199I|EPB41L2_ENST00000528282.1_Missense_Mutation_p.T199I|EPB41L2_ENST00000392427.3_Missense_Mutation_p.T199I|EPB41L2_ENST00000530481.1_Missense_Mutation_p.T199I|EPB41L2_ENST00000445890.2_Missense_Mutation_p.T199I|EPB41L2_ENST00000368128.2_Missense_Mutation_p.T199I|EPB41L2_ENST00000527411.1_Missense_Mutation_p.T199I|EPB41L2_ENST00000527659.1_Missense_Mutation_p.T199I|EPB41L2_ENST00000525193.1_Missense_Mutation_p.T199I NM_001431.3 NP_001422.1 O43491 E41L2_HUMAN erythrocyte membrane protein band 4.1-like 2 199 cortical actin cytoskeleton organization extrinsic to membrane|plasma membrane|spectrin actin binding|structural molecule activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2) 44 Breast(56;0.0639) OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355) CAGCTCATTGGTCTGCACTTC 0.433000 43 112 0 0 0.000781405 0 0 LAMA2 3908 broad.mit.edu 37 6 129837450 129837450 + Silent SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr6:129837450G>A ENST00000421865.2 + 65 9376 c.9327G>A c.(9325-9327)ctG>ctA p.L3109L NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 3109 Laminin G-like 5. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) CCAAGGCCCTGGAACTGAGGG 0.463000 20 39 0 0 0.00121646 0 0 TUBA4A 7277 broad.mit.edu 37 2 220115512 220115512 + Silent SNP T T C rs141922502 byFrequency TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr2:220115512T>C ENST00000392088.2 - 4 1419 c.864A>G c.(862-864)gtA>gtG p.V288V TUBA4A_ENST00000248437.4_Silent_p.V303V|TUBA4A_ENST00000498660.1_5'UTR NM_001278552.1 NP_001265481.1 P68366 TBA4A_HUMAN tubulin, alpha 4a 303 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization cytosol|extracellular region|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 20 Renal(207;0.0474) Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GATCACACTTTACCATCTGGT 0.567000 28 59 0 0 0.00178596 0 0 COL5A2 1290 broad.mit.edu 37 2 189932972 189932972 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr2:189932972G>A ENST00000374866.3 - 20 1556 c.1282C>T c.(1282-1284)Cct>Tct p.P428S NM_000393.3 NP_000384.2 P05997 CO5A2_HUMAN collagen, type V, alpha 2 428 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) TTGGCACCAGGAGTACCATCA 0.408000 44 95 0 0 0.000781405 0 0 CCDC37 348807 broad.mit.edu 37 3 126138654 126138654 + Silent SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr3:126138654G>A ENST00000393425.1 + 9 1008 c.909G>A c.(907-909)ggG>ggA p.G303G CCDC37_ENST00000352312.1_Silent_p.G302G|CCDC37_ENST00000505024.1_Silent_p.G303G Q494V2 CCD37_HUMAN coiled-coil domain containing 37 302 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) CCACACCAGGGGACAAAGGTA 0.547000 4 36 0 0 0.000602214 0 0 DOCK9 23348 broad.mit.edu 37 13 99538816 99538816 + Silent SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr13:99538816G>A ENST00000376460.1 - 19 2186 c.2106C>T c.(2104-2106)caC>caT p.H702H DOCK9_ENST00000448493.2_Silent_p.H714H|DOCK9_ENST00000442173.1_Silent_p.H702H|DOCK9_ENST00000339416.2_Silent_p.H703H NM_001130048.1|NM_015296.2 NP_001123520.1|NP_056111.1 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 703 DHR-1. blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) TTTGGTGATGGTGTAAAACTG 0.403000 8 32 0 0 0.000442599 0 0 KMT2A 4297 broad.mit.edu 37 11 118390453 118390453 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr11:118390453C>T ENST00000534358.1 + 32 11290 c.11267C>T c.(11266-11268)gCc>gTc p.A3756V RP11-770J1.3_ENST00000528578.1_RNA|KMT2A_ENST00000389506.5_Missense_Mutation_p.A3753V|RP11-770J1.3_ENST00000525992.2_RNA|RP11-770J1.3_ENST00000554407.1_RNA|KMT2A_ENST00000354520.4_Missense_Mutation_p.A3715V|RP11-770J1.3_ENST00000532597.1_RNA|RP11-770J1.3_ENST00000556583.1_RNA NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A CCAGAGGAGGCCAATGAACCC 0.517000 22 52 0 0 0.00278032 0 0 DNAH7 56171 broad.mit.edu 37 2 196741347 196741347 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr2:196741347G>A ENST00000312428.6 - 37 6138 c.6038C>T c.(6037-6039)gCt>gTt p.A2013V NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2013 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 CTGAGTTTGAGCTGCTGTAGT 0.323000 19 44 0 0 0.00152264 0 0 KCNK17 89822 broad.mit.edu 37 6 39272353 39272353 + Missense_Mutation SNP T T C TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr6:39272353T>C ENST00000453413.2 - 3 571 c.431A>G c.(430-432)aAc>aGc p.N144S KCNK17_ENST00000373231.4_Missense_Mutation_p.N144S NM_001135111.1 NP_001128583.1 Q96T54 KCNKH_HUMAN potassium channel, subfamily K, member 17 144 integral to membrane potassium channel activity|voltage-gated ion channel activity endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2) 14 CACCACGAGGTTGAGTGGGAT 0.632000 41 92 0 0 0.000680045 0 0 OR4N5 390437 broad.mit.edu 37 14 20612775 20612775 + Missense_Mutation SNP T T G TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr14:20612775T>G ENST00000333629.1 + 1 881 c.881T>G c.(880-882)gTg>gGg p.V294G NM_001004724.1 NP_001004724.1 Q8IXE1 OR4N5_HUMAN olfactory receptor, family 4, subfamily N, member 5 294 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1) 29 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.84e-06) GBM - Glioblastoma multiforme(265;0.0143) AACCAGGAGGTGAAAGCTTCC 0.403000 22 36 0 0 0.000586117 0 0 HERC4 26091 broad.mit.edu 37 10 69752044 69752044 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr10:69752044G>A ENST00000395198.3 - 11 1430 c.1183C>T c.(1183-1185)Ccg>Tcg p.P395S HERC4_ENST00000373700.4_Missense_Mutation_p.P395S|HERC4_ENST00000412272.2_Missense_Mutation_p.P395S|HERC4_ENST00000277817.6_Missense_Mutation_p.P285S|HERC4_ENST00000395187.2_3'UTR NM_022079.2 NP_071362.1 Q5GLZ8 HERC4_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 4 395 cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis cytosol ubiquitin-protein ligase activity NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 27 TGCTTTGTCGGATTGGGACAT 0.393000 34 44 0 0 0.000953801 0 0 OR10G4 390264 broad.mit.edu 37 11 123887211 123887211 + Silent SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr11:123887211G>A ENST00000320891.4 + 1 930 c.930G>A c.(928-930)agG>agA p.R310R NM_001004462.1 NP_001004462.1 Q8NGN3 O10G4_HUMAN olfactory receptor, family 10, subfamily G, member 4 310 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1) 48 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) ATCCTCAGAGGAAATAAATAC 0.348000 17 29 0 0 0.00121646 0 0 DAB2 1601 broad.mit.edu 37 5 39381617 39381617 + Silent SNP G G C TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr5:39381617G>C ENST00000545653.1 - 10 1910 c.1380C>G c.(1378-1380)ccC>ccG p.P460P DAB2_ENST00000339788.6_Silent_p.P263P|DAB2_ENST00000320816.6_Silent_p.P481P|DAB2_ENST00000509337.1_Silent_p.P460P NM_001244871.1 NP_001231800.1 P98082 DAB2_HUMAN Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila) 481 cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway clathrin coated vesicle membrane|coated pit protein C-terminus binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 47 all_lung(31;0.000197) Epithelial(62;0.137) CCAGAGGGTTGGGCTGCAGGG 0.537000 28 96 0 0 0.00209593 0 0 ELP3 55140 broad.mit.edu 37 8 27957418 27957418 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr8:27957418C>T ENST00000256398.8 + 3 570 c.193C>T c.(193-195)Cct>Tct p.P65S ELP3_ENST00000380353.4_Intron|ELP3_ENST00000521015.1_Missense_Mutation_p.P51S|ELP3_ENST00000542181.1_Intron|ELP3_ENST00000537665.1_5'UTR|ELP3_ENST00000523760.1_3'UTR|ELP3_ENST00000524103.1_5'UTR NM_018091.5 NP_060561.3 Q9H9T3 ELP3_HUMAN elongator acetyltransferase complex subunit 3 65 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 Ovarian(32;0.0218) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183) TGCTGCCGTCCCTCCTCAGTA 0.502000 22 56 0 0 0.00047179 0 0 C9orf131 138724 broad.mit.edu 37 9 35045666 35045666 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr9:35045666G>A ENST00000312292.5 + 2 3087 c.3040G>A c.(3040-3042)Ggt>Agt p.G1014S C9orf131_ENST00000421362.2_Missense_Mutation_p.G966S|C9orf131_ENST00000354479.5_Missense_Mutation_p.G941S NM_001040410.1|NM_203299.2 NP_001035500.1|NP_976044.2 Q5VYM1 CI131_HUMAN chromosome 9 open reading frame 131 1014 cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1) 39 all_epithelial(49;0.22) LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309) CAAAGCTTCGGGTCCCCAGGA 0.577000 19 26 0 0 0.00074312 0 0 CTSL 1514 broad.mit.edu 37 9 90345972 90345972 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr9:90345972C>T ENST00000343150.5 + 8 1842 c.952C>T c.(952-954)Cgg>Tgg p.R318W CTSL_ENST00000495822.1_3'UTR|CTSL_ENST00000340342.6_Missense_Mutation_p.R318W cathepsin L GGCCAAAGACCGGAGAAACCA 0.522000 9 15 0 0 0.000673444 0 0 OR1C1 26188 broad.mit.edu 37 1 247921054 247921054 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:247921054C>T ENST00000408896.2 - 1 928 c.655G>A c.(655-657)Gga>Aga p.G219R NM_012353.2 NP_036485.2 Q15619 OR1C1_HUMAN olfactory receptor, family 1, subfamily C, member 1 219 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G219*(1) central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1) 46 all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) all_cancers(173;0.0247) OV - Ovarian serous cystadenocarcinoma(106;0.0168) AAGATAAGTCCATAAGATACG 0.483000 27 29 0 0 0.00209593 0 0 TNMD 64102 broad.mit.edu 37 X 99854661 99854661 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chrX:99854661C>T ENST00000373031.4 + 7 1118 c.901C>T c.(901-903)Cgt>Tgt p.R301C NM_022144.2 NP_071427.2 Q9H2S6 TNMD_HUMAN tenomodulin 301 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(7)|skin(1) 16 AGTCATCTGTCGTGTCATCAT 0.507000 8 30 0 0 0.000978159 0 0 ACOT8 10005 broad.mit.edu 37 20 44477272 44477272 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr20:44477272C>T ENST00000217455.4 - 3 395 c.305G>A c.(304-306)cGa>cAa p.R102Q NM_005469.3 NP_005460.2 O14734 ACOT8_HUMAN acyl-CoA thioesterase 8 102 bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|interspecies interaction between organisms|peroxisome organization peroxisomal matrix acetyl-CoA hydrolase activity|acyl-CoA thioesterase activity|carboxylesterase activity|choloyl-CoA hydrolase activity|protein binding kidney(2)|large_intestine(3)|lung(4)|skin(1) 10 Myeloproliferative disorder(115;0.0122) CGACCCTGTTCGTGTCCGCTC 0.627000 9 34 0 0 0.000673444 0 0 FGA 2243 broad.mit.edu 37 4 155506800 155506800 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr4:155506800G>A ENST00000302053.3 - 5 1859 c.1781C>T c.(1780-1782)tCc>tTc p.S594F FGA_ENST00000403106.3_Missense_Mutation_p.S594F NM_000508.3 NP_000499.1 P02671 FIBA_HUMAN fibrinogen alpha chain 594 platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 73 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) TTCAAATGTGGAGTCTCCTCT 0.453000 24 65 0 0 0.00047179 0 0 ADAMTS15 170689 broad.mit.edu 37 11 130332616 130332616 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr11:130332616G>A ENST00000299164.2 + 4 1483 c.1483G>A c.(1483-1485)Gag>Aag p.E495K NM_139055.2 NP_620686.1 Q8TE58 ATS15_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 15 495 Disintegrin. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1) 36 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215) CAGCTGTGGCGAGGGCAAGCT 0.642000 24 63 0 0 0.000878237 0 0 ANKRD13D 338692 broad.mit.edu 37 11 67059550 67059550 + Silent SNP A A T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr11:67059550A>T ENST00000447274.2 + 6 1544 c.369A>T c.(367-369)acA>acT p.T123T ANKRD13D_ENST00000308440.6_Silent_p.T123T|ANKRD13D_ENST00000511455.2_Silent_p.T210T|ANKRD13D_ENST00000514166.1_Silent_p.T123T Q6ZTN6 AN13D_HUMAN ankyrin repeat domain 13 family, member D 123 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1) 9 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) AGCCCGAAACACTGCTGGCCG 0.637000 17 41 0 0 0.00074312 0 0 OR5M1 390168 broad.mit.edu 37 11 56380724 56380724 + Silent SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr11:56380724G>A ENST00000526538.1 - 1 254 c.255C>T c.(253-255)ttC>ttT p.F85F NM_001004740.1 NP_001004740.1 Q8NGP8 OR5M1_HUMAN olfactory receptor, family 5, subfamily M, member 1 85 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F85F(1) central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1) 12 GTTCTGAGAGGAAATTGTGCA 0.448000 10 70 0 0 0.000442599 0 0 SSH1 54434 broad.mit.edu 37 12 109186494 109186494 + Silent SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr12:109186494G>A ENST00000326495.5 - 14 1554 c.1461C>T c.(1459-1461)acC>acT p.T487T SSH1_ENST00000360239.3_Silent_p.T175T|SSH1_ENST00000326470.5_Silent_p.T498T|SSH1_ENST00000551165.1_Silent_p.T487T NM_018984.3 NP_061857.3 Q8WYL5 SSH1_HUMAN slingshot protein phosphatase 1 487 actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 GGCTTTCCGGGGTGCCATCTG 0.642000 21 43 0 0 0.00152264 0 0 CARD11 84433 broad.mit.edu 37 7 2952944 2952944 + Missense_Mutation SNP A A G TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr7:2952944A>G ENST00000396946.4 - 22 3399 c.2996T>C c.(2995-2997)aTg>aCg p.M999T NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 999 Guanylate kinase-like. positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) GGTGAACTCCATGGCACCTCC 0.662000 Mis DLBCL 24 107 0 0 0.00047179 0 0 IL21 59067 broad.mit.edu 37 4 123542116 123542116 + Silent SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr4:123542116G>A ENST00000264497.3 - 1 108 c.51C>T c.(49-51)gtC>gtT p.V17V IL21-AS1_ENST00000417927.1_RNA NM_001207006.2|NM_021803.3 NP_001193935.1|NP_068575.1 Q9HBE4 IL21_HUMAN interleukin 21 10 cell maturation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-17 production|positive regulation of T cell proliferation|signal transduction extracellular space cytokine activity|interleukin-2 receptor binding NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3) 8 CCAAGAAGATGACCATCAGAC 0.443000 27 52 0 0 0.000878237 0 0 ISLR 3671 broad.mit.edu 37 15 74467238 74467238 + Silent SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr15:74467238G>A ENST00000249842.3 + 2 396 c.39G>A c.(37-39)ctG>ctA p.L13L ISLR_ENST00000395118.1_Silent_p.L13L|RP11-665J16.1_ENST00000561647.1_RNA NM_005545.3 NP_005536.1 O14498 ISLR_HUMAN immunoglobulin superfamily containing leucine-rich repeat 13 cell adhesion extracellular region central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1) 20 CGCTTCTCCTGGGCCTGGCTC 0.632000 15 45 0 0 0.000566183 0 0 CLEC4M 10332 broad.mit.edu 37 19 7830105 7830105 + Silent SNP C C A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr19:7830105C>A ENST00000327325.5 + 3 283 c.165C>A c.(163-165)ctC>ctA p.L55L CLEC4M_ENST00000248228.4_Silent_p.L55L|CLEC4M_ENST00000334806.5_Silent_p.L27L|CLEC4M_ENST00000357361.2_Silent_p.L55L|CLEC4M_ENST00000596707.1_Intron|CLEC4M_ENST00000597522.1_Silent_p.L55L|CLEC4M_ENST00000596363.1_Silent_p.L27L|CLEC4M_ENST00000394122.2_Silent_p.L47L|CLEC4M_ENST00000359059.5_Intron|CLEC4M_ENST00000595496.1_Intron NM_001144909.1|NM_014257.4 NP_001138381.1|NP_055072.3 Q9H2X3 CLC4M_HUMAN C-type lectin domain family 4, member M 55 cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to plasma membrane ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1) 26 TGCTGCAACTCCTCTCCTTCA 0.637000 23 58 3.65163e-15 1.79641e-14 0.00106085 1 0 COL4A5 1287 broad.mit.edu 37 X 107846280 107846280 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chrX:107846280C>T ENST00000328300.6 + 28 2477 c.2233C>T c.(2233-2235)Cca>Tca p.P745S COL4A5_ENST00000361603.2_Missense_Mutation_p.P745S NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 745 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 ACCCGGCTTTCCAGGACCAAA 0.458000 Alport syndrome with Diffuse Leiomyomatosis 4 8 0 0 0.00024832 0 0 PJA1 64219 broad.mit.edu 37 X 68381749 68381749 + Nonsense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chrX:68381749G>A ENST00000361478.1 - 2 1710 c.1333C>T c.(1333-1335)Cga>Tga p.R445* PJA1_ENST00000374571.4_Nonsense_Mutation_p.R390*|PJA1_ENST00000374583.1_Nonsense_Mutation_p.R445*|PJA1_ENST00000374584.3_Nonsense_Mutation_p.R257* NM_001032396.2|NM_022368.4|NM_145119.3 NP_001027568.1|NP_071763.2|NP_660095.1 Q8NG27 PJA1_HUMAN praja ring finger 1, E3 ubiquitin protein ligase 445 zinc ion binding endometrium(3)|large_intestine(5)|lung(12)|ovary(1) 21 GATGGTTCTCGAACTTCTTCA 0.577000 51 88 0 0 0.000781405 0 0 EVX1 2128 broad.mit.edu 37 7 27284840 27284840 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr7:27284840G>A ENST00000496902.4 + 2 1087 c.601G>A c.(601-603)Gaa>Aaa p.E201K EVX1_ENST00000535619.1_Missense_Mutation_p.E19K|EVX1_ENST00000222761.3_Silent_p.R182R|EVX1-AS_ENST00000517726.1_RNA P49640 EVX1_HUMAN even-skipped homeobox 1 201 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1) 14 GCTGGAGAAGGAATTCTACCG 0.647000 26 64 0 0 0.000586117 0 0 SAMD7 344658 broad.mit.edu 37 3 169656266 169656266 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr3:169656266G>A ENST00000428432.2 + 9 1702 c.1313G>A c.(1312-1314)gGa>gAa p.G438E SAMD7_ENST00000335556.3_Missense_Mutation_p.G438E NM_182610.2 NP_872416.1 Q7Z3H4 SAMD7_HUMAN sterile alpha motif domain containing 7 438 NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106) ATTCCTAAAGGAATTGAGCGA 0.408000 9 17 0 0 0.00136819 0 0 ZNF812 729648 broad.mit.edu 37 19 9801338 9801338 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr19:9801338C>T ENST00000457674.2 - 5 1359 c.841G>A c.(841-843)Gaa>Aaa p.E281K ZNF812_ENST00000536819.1_5'UTR NM_001199814.1 NP_001186743.1 P0C7V5 ZN812_HUMAN zinc finger protein 812 281 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TTCCCACATTCCGTATATTTG 0.378000 12 46 0 0 0.00136819 0 0 SNAPC1 6617 broad.mit.edu 37 14 62245615 62245615 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr14:62245615C>T ENST00000216294.4 + 7 916 c.812C>T c.(811-813)tCa>tTa p.S271L NM_003082.3 NP_003073.1 Q16533 SNPC1_HUMAN small nuclear RNA activating complex, polypeptide 1, 43kDa 271 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1) 13 OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186) AAGGCCTTTTCAGTTGTCATA 0.279000 18 42 0 0 0.00188189 0 0 C3orf30 152405 broad.mit.edu 37 3 118866052 118866052 + Missense_Mutation SNP A A C TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr3:118866052A>C ENST00000295622.1 + 1 1056 c.1016A>C c.(1015-1017)cAc>cCc p.H339P NM_152539.2 NP_689752.2 Q96M34 CC030_HUMAN chromosome 3 open reading frame 30 339 p.H339L(1) NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(114;0.222) GACAATGCTCACTACACTGAA 0.468000 17 31 0 0 0.00188189 0 0 GPR98 84059 broad.mit.edu 37 5 89979723 89979723 + Silent SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr5:89979723G>A ENST00000405460.2 + 28 6081 c.5985G>A c.(5983-5985)caG>caA p.Q1995Q NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 1995 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) AAGCAACCCAGAACATCACAC 0.368000 11 6 0 0 0.000978159 0 0 ASPHD1 253982 broad.mit.edu 37 16 29912595 29912595 + Silent SNP A A G TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr16:29912595A>G ENST00000308748.5 + 1 555 c.303A>G c.(301-303)caA>caG p.Q101Q ASPHD1_ENST00000483405.1_Intron NM_181718.3 NP_859069.2 Q5U4P2 ASPH1_HUMAN aspartate beta-hydroxylase domain containing 1 101 peptidyl-amino acid modification integral to endoplasmic reticulum membrane oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity endometrium(4)|large_intestine(2)|lung(1)|prostate(1) 8 TGGGCTCCCAAGACATGCAGG 0.701000 18 61 0 0 0.00229938 0 0 MISP 126353 broad.mit.edu 37 19 758513 758513 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr19:758513C>T ENST00000215582.6 + 2 1670 c.1567C>T c.(1567-1569)Ccc>Tcc p.P523S NM_173481.2 NP_775752.1 mitotic spindle positioning GGCCCAAGTCCCCCATGTCTG 0.667000 12 32 0 0 0.00136819 0 0 TRPC5 7224 broad.mit.edu 37 X 111090377 111090377 + Silent SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chrX:111090377C>T ENST00000262839.2 - 6 2583 c.1665G>A c.(1663-1665)ggG>ggA p.G555G NM_012471.2 NP_036603.1 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, subfamily C, member 5 555 axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 CACATCGGATCCCCTTGCAGT 0.403000 51 129 0 0 0.000781405 0 0 FKBP15 23307 broad.mit.edu 37 9 115930838 115930838 + Splice_Site SNP T T C TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr9:115930838T>C ENST00000238256.3 - 27 3603 c.e27-2 NM_015258.1 NP_056073.1 Q5T1M5 FKB15_HUMAN FK506 binding protein 15, 133kDa endocytosis|protein folding axon|early endosome actin binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1) 26 CCAGAGAGACTGAAGGAAAAT 0.498000 20 36 0 0 0.00229938 0 0 ATF7 11016 broad.mit.edu 37 12 53928439 53928439 + Missense_Mutation SNP A A G TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr12:53928439A>G ENST00000420353.2 - 6 556 c.407T>C c.(406-408)gTt>gCt p.V136A ATF7_ENST00000415113.1_Missense_Mutation_p.V115A|ATF7_ENST00000548446.2_Missense_Mutation_p.V147A|RP11-793H13.10_ENST00000591834.1_Missense_Mutation_p.V136A|ATF7_ENST00000456903.4_Missense_Mutation_p.V136A|ATF7_ENST00000328463.7_Missense_Mutation_p.V147A NM_006856.2 NP_006847.1 P17544 ATF7_HUMAN activating transcription factor 7 147 Transactivation domain. interspecies interaction between organisms cytoplasm|nuclear periphery|nucleoplasm protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)|urinary_tract(1) 9 CTTTGGGGTAACCTCCTGGAG 0.433000 11 45 0 0 0.000978159 0 0 CDC37L1 55664 broad.mit.edu 37 9 4697103 4697103 + Silent SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr9:4697103G>A ENST00000381854.3 + 4 718 c.516G>A c.(514-516)ttG>ttA p.L172L CDC37L1_ENST00000381858.1_Silent_p.L172L NM_017913.2 NP_060383.2 Q7L3B6 CD37L_HUMAN cell division cycle 37-like 1 172 Self-association and interaction with Hsp90. cytoplasm breast(1)|kidney(1)|lung(2) 4 all_hematologic(13;0.137) Breast(48;0.238) GBM - Glioblastoma multiforme(50;0.0318) CAGGTATGTTGAGTCGATGGG 0.338000 6 45 0 0 0.00198382 0 0 CHRNA9 55584 broad.mit.edu 37 4 40356123 40356123 + Silent SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr4:40356123G>A ENST00000310169.2 + 5 1165 c.1026G>A c.(1024-1026)ctG>ctA p.L342L NM_017581.3 NP_060051.2 Q9UGM1 ACHA9_HUMAN cholinergic receptor, nicotinic, alpha 9 (neuronal) 342 elevation of cytosolic calcium ion concentration|synaptic transmission cell junction|postsynaptic membrane calcium channel activity|receptor activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1) 33 Nicotine(DB00184) TGGTCATCCTGAAATACATGT 0.557000 86 168 0 0 0.000781405 0 0 TRIM37 4591 broad.mit.edu 37 17 57125123 57125123 + Nonsense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr17:57125123G>A ENST00000376149.3 - 16 2031 c.1222C>T c.(1222-1224)Cag>Tag p.Q408* TRIM37_ENST00000393066.3_Nonsense_Mutation_p.Q530*|TRIM37_ENST00000393065.2_Nonsense_Mutation_p.Q496*|TRIM37_ENST00000262294.7_Nonsense_Mutation_p.Q530* O94972 TRI37_HUMAN tripartite motif containing 37 530 perinuclear region of cytoplasm|peroxisome ligase activity|protein binding|zinc ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Medulloblastoma(34;0.0922)|all_neural(34;0.101) CCATCGAGCTGATTTACTTCA 0.393000 Mulibrey Nanism 6 24 0 0 0.000157383 0 0 ANK3 288 broad.mit.edu 37 10 61868658 61868658 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr10:61868658G>A ENST00000280772.1 - 27 3294 c.3103C>T c.(3103-3105)Ccc>Tcc p.P1035S ANK3_ENST00000355288.2_Missense_Mutation_p.P169S|ANK3_ENST00000503366.1_Missense_Mutation_p.P1036S|ANK3_ENST00000373827.2_Missense_Mutation_p.P1029S NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 1035 ZU5. establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding p.P1035S(1) 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 TCCACCATGGGGGGTGGGTTG 0.502000 23 33 0 0 0.00278032 0 0 ITPR1 3708 broad.mit.edu 37 3 4847917 4847917 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr3:4847917G>A ENST00000302640.8 + 54 7543 c.7193G>A c.(7192-7194)gGg>gAg p.G2398E ITPR1_ENST00000423119.2_Missense_Mutation_p.G2365E|ITPR1_ENST00000357086.4_Missense_Mutation_p.G2365E|ITPR1_ENST00000354582.6_Missense_Mutation_p.G2398E|ITPR1_ENST00000443694.2_Missense_Mutation_p.G2398E|ITPR1_ENST00000456211.2_Missense_Mutation_p.G2350E|ITPR1_ENST00000463980.1_3'UTR|ITPR1_ENST00000544951.1_Missense_Mutation_p.G376E NM_001168272.1 NP_001161744.1 Q14643 ITPR1_HUMAN inositol 1,4,5-trisphosphate receptor, type 1 2413 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) TGTGCCATGGGGCTCTTTGTC 0.468000 15 73 0 0 0.000422831 0 0 ZNF414 84330 broad.mit.edu 37 19 8577592 8577592 + Missense_Mutation SNP T T A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr19:8577592T>A ENST00000393927.4 - 3 433 c.320A>T c.(319-321)aAg>aTg p.K107M ZNF414_ENST00000255616.8_Missense_Mutation_p.K107M NM_001146175.1 NP_001139647.1 Q96IQ9 ZN414_HUMAN zinc finger protein 414 107 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding lung(2) 2 AGGGATTTGCTTCCCTGCAGG 0.602000 4 0 0 0 0.000602214 0 0 OR2M4 26245 broad.mit.edu 37 1 248402764 248402764 + Silent SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:248402764C>T ENST00000306687.1 + 1 534 c.534C>T c.(532-534)ttC>ttT p.F178F NM_017504.1 NP_059974.1 Q96R27 OR2M4_HUMAN olfactory receptor, family 2, subfamily M, member 4 178 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2) 50 all_cancers(71;0.000124)|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;0.0245) ATCACTTTTTCTGTGATGTTG 0.428000 50 90 0 0 0.000781405 0 0 INPP5J 27124 broad.mit.edu 37 22 31522380 31522380 + Nonsense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr22:31522380G>A ENST00000331075.5 + 3 1339 c.1290G>A c.(1288-1290)tgG>tgA p.W430* INPP5J_ENST00000400294.2_Nonsense_Mutation_p.W63*|INPP5J_ENST00000412277.2_Nonsense_Mutation_p.W363*|INPP5J_ENST00000405300.1_Nonsense_Mutation_p.W63*|INPP5J_ENST00000404390.3_Nonsense_Mutation_p.W62* Q15735 PI5PA_HUMAN inositol polyphosphate-5-phosphatase J 430 Catalytic (Potential). cytoplasm|ruffle inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1) 12 TGGTCACATGGAACGTGGGCA 0.612000 45 94 0 0 0.000781405 0 0 ELOVL1 64834 broad.mit.edu 37 1 43830677 43830677 + Silent SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:43830677G>A ENST00000372458.3 - 4 357 c.240C>T c.(238-240)ttC>ttT p.F80F ELOVL1_ENST00000470769.1_5'UTR|ELOVL1_ENST00000413844.2_Intron 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 80 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) CCGACATCAGGAACTGGGAAG 0.577000 6 17 0 0 0.00116845 0 0 KCNT2 343450 broad.mit.edu 37 1 196397273 196397273 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:196397273C>T ENST00000367433.5 - 10 1047 c.946G>A c.(946-948)Gat>Aat p.D316N KCNT2_ENST00000367431.4_Missense_Mutation_p.D316N|KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.8_Missense_Mutation_p.D316N Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 316 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 TTTAAAAAATCCATAAGTAAA 0.378000 13 45 0 0 0.00185496 0 0 LPAR1 1902 broad.mit.edu 37 9 113703966 113703966 + Silent SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr9:113703966G>A ENST00000374431.3 - 4 911 c.528C>T c.(526-528)atC>atT p.I176I LPAR1_ENST00000541779.1_Silent_p.I177I|LPAR1_ENST00000358883.4_Silent_p.I176I|LPAR1_ENST00000538760.1_Silent_p.I177I|LPAR1_ENST00000374430.2_Silent_p.I176I NM_057159.2 NP_476500.1 Q92633 LPAR1_HUMAN lysophosphatidic acid receptor 1 176 positive regulation of I-kappaB kinase/NF-kappaB cascade cell surface|integral to plasma membrane breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1) 21 CACCCATAACGATGGCCATAG 0.498000 26 32 0 0 0.000720815 0 0 ITGA5 3678 broad.mit.edu 37 12 54798666 54798666 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr12:54798666C>T ENST00000293379.4 - 13 1499 c.1238G>A c.(1237-1239)gGg>gAg p.G413E RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA NM_002205.2 NP_002196.2 P08648 ITA5_HUMAN integrin, alpha 5 (fibronectin receptor, alpha polypeptide) 413 angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 34 AAAGGGAGCCCCGATGGCCAC 0.582000 OREG0021554 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 9 0 0 6.4e-05 0 0 XIRP2 129446 broad.mit.edu 37 2 168097208 168097208 + Missense_Mutation SNP A A G TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr2:168097208A>G ENST00000409195.1 + 7 1093 c.1004A>G c.(1003-1005)aAc>aGc p.N335S XIRP2_ENST00000409273.1_Missense_Mutation_p.N113S|XIRP2_ENST00000295237.9_Missense_Mutation_p.N335S|XIRP2_ENST00000409605.1_Missense_Mutation_p.N113S|XIRP2_ENST00000409756.2_Missense_Mutation_p.N335S|XIRP2_ENST00000420519.1_Missense_Mutation_p.N368S|XIRP2_ENST00000409728.1_Missense_Mutation_p.N368S|XIRP2_ENST00000409043.1_Missense_Mutation_p.N335S NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 160 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 GAGGAAGTAAACCAAGCATCT 0.308000 25 67 0 0 0.00106085 0 0 ALAS2 212 broad.mit.edu 37 X 55043923 55043923 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chrX:55043923C>T ENST00000330807.5 - 7 1136 c.999G>A c.(997-999)atG>atA p.M333I ALAS2_ENST00000396198.3_Missense_Mutation_p.M320I|ALAS2_ENST00000335854.4_Missense_Mutation_p.M296I|ALAS2_ENST00000498636.1_5'UTR NM_000032.4 NP_000023.2 P22557 HEM0_HUMAN aminolevulinate, delta-, synthase 2 333 cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia mitochondrial inner membrane|mitochondrial matrix 5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1) 17 Glycine(DB00145) ACATACCATCCATGGAGTGGA 0.393000 34 70 0 0 0.000692331 0 0 IKZF2 22807 broad.mit.edu 37 2 213872225 213872225 + Silent SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr2:213872225G>A ENST00000457361.1 - 8 1608 c.1440C>T c.(1438-1440)ttC>ttT p.F480F IKZF2_ENST00000451136.2_Silent_p.F408F|IKZF2_ENST00000374319.4_Silent_p.F454F|IKZF2_ENST00000434687.1_Silent_p.F480F|IKZF2_ENST00000374327.4_Silent_p.F335F|IKZF2_ENST00000421754.2_Silent_p.F406F|IKZF2_ENST00000342002.2_Silent_p.F486F|IKZF2_ENST00000413091.3_3'UTR NM_016260.2 NP_057344.2 Q9UKS7 IKZF2_HUMAN IKAROS family zinc finger 2 (Helios) 480 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Esophageal squamous(248;0.0559)|Renal(323;0.218) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792) CATGGTCTAGGAAAAGGACTC 0.512000 37 71 0 0 0.00148497 0 0 INIP 58493 broad.mit.edu 37 9 115456459 115456459 + Missense_Mutation SNP C C G TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr9:115456459C>G ENST00000374242.4 - 3 385 c.80G>C c.(79-81)aGa>aCa p.R27T INIP_ENST00000374238.1_5'UTR|INIP_ENST00000497712.2_5'UTR|INIP_ENST00000374234.1_5'UTR|INIP_ENST00000374236.1_5'UTR NM_021218.1 NP_067041.1 INTS3 and NABP interacting protein AAGTAGTTTTCTTTTCTCTTT 0.343000 27 63 0 0 0.00283554 0 0 FGR 2268 broad.mit.edu 37 1 27939754 27939754 + Missense_Mutation SNP T T G TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:27939754T>G ENST00000374005.3 - 12 1645 c.1357A>C c.(1357-1359)Acc>Ccc p.T453P FGR_ENST00000399173.1_Missense_Mutation_p.T453P|FGR_ENST00000374004.1_Missense_Mutation_p.T453P|FGR_ENST00000545953.1_Missense_Mutation_p.T387P NM_005248.2 NP_005239.1 P09769 FGR_HUMAN feline Gardner-Rasheed sarcoma viral oncogene homolog 453 Protein kinase. platelet activation|response to virus cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4) 16 all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) CGGCCCTTGGTGATGAGCTCA 0.602000 16 50 0 0 0.000566183 0 0 PLCB4 5332 broad.mit.edu 37 20 9317777 9317777 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr20:9317777C>T ENST00000378501.2 + 2 104 c.89C>T c.(88-90)tCc>tTc p.S30F PLCB4_ENST00000378473.3_Missense_Mutation_p.S30F|PLCB4_ENST00000414679.2_Missense_Mutation_p.S30F|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000278655.4_Missense_Mutation_p.S30F|PLCB4_ENST00000334005.3_Missense_Mutation_p.S30F|PLCB4_ENST00000378493.1_Missense_Mutation_p.S30F NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 30 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 TGACAGGAATCCTTTGTGTTT 0.373000 20 64 0 0 0.00278032 0 0 FAM227B 196951 broad.mit.edu 37 15 49833925 49833925 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr15:49833925C>T ENST00000299338.6 - 10 1129 c.826G>A c.(826-828)Gat>Aat p.D276N FAM227B_ENST00000561064.1_Missense_Mutation_p.D242N NM_152647.2 NP_689860.2 family with sequence similarity 227, member B TTAAATTCATCATTAAAGAGG 0.284000 30 131 0 0 0.00058488 0 0 NAF1 92345 broad.mit.edu 37 4 164066932 164066932 + Splice_Site SNP A A G TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr4:164066932A>G ENST00000274054.2 - 4 911 c.e4+1 NAF1_ENST00000422287.2_Splice_Site NM_138386.2 NP_612395.2 Q96HR8 NAF1_HUMAN nuclear assembly factor 1 ribonucleoprotein rRNA processing|snRNA pseudouridine synthesis cytoplasm|nucleus|small nucleolar ribonucleoprotein complex protein binding|snoRNA binding NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2) 21 all_hematologic(180;0.166) Prostate(90;0.109) TGTTTTACAAACCTTTCCTGC 0.274000 3 8 0 0 6.4e-05 0 0 SIDT1 54847 broad.mit.edu 37 3 113300282 113300282 + Silent SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr3:113300282C>T ENST00000264852.4 + 6 1464 c.738C>T c.(736-738)atC>atT p.I246I SIDT1_ENST00000393830.3_Silent_p.I246I NM_017699.2 NP_060169.2 Q9NXL6 SIDT1_HUMAN SID1 transmembrane family, member 1 246 integral to membrane breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 AAGCTGCCATCACGCTACAGG 0.468000 22 35 0 0 0.00229938 0 0 WFS1 7466 broad.mit.edu 37 4 6303919 6303919 + Silent SNP C C A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr4:6303919C>A ENST00000226760.1 + 8 2567 c.2397C>A c.(2395-2397)acC>acA p.T799T WFS1_ENST00000503569.1_Silent_p.T799T NM_001145853.1|NM_006005.3 NP_001139325.1|NP_005996.2 O76024 WFS1_HUMAN Wolfram syndrome 1 (wolframin) 799 endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception dendrite|integral to endoplasmic reticulum membrane activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 21 Colorectal(103;0.0512) ACGACGTCACCAAGGACATCG 0.632000 8 254 0.000157383 0.0007678 0.000157383 1 0 RBM11 54033 broad.mit.edu 37 21 15592007 15592007 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr21:15592007C>T ENST00000400577.3 + 2 229 c.220C>T c.(220-222)Cgt>Tgt p.R74C RBM11_ENST00000468643.1_3'UTR NM_144770.3 NP_658983.3 P57052 RBM11_HUMAN RNA binding motif protein 11 74 RRM. nucleotide binding|RNA binding endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 16 Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141) GAATGGAATTCGTTTATATGG 0.388000 19 34 0 0 0.00074312 0 0 MAPK6 5597 broad.mit.edu 37 15 52356254 52356254 + Missense_Mutation SNP A A G TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr15:52356254A>G ENST00000261845.5 + 6 2030 c.1223A>G c.(1222-1224)aAg>aGg p.K408R CTD-2184D3.5_ENST00000558607.1_RNA NM_002748.3 NP_002739.1 Q16659 MK06_HUMAN mitogen-activated protein kinase 6 408 cell cycle ATP binding|MAP kinase activity breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2) 20 all cancers(107;0.0028) GATCGGGAAAAGTATCTGGAG 0.408000 13 40 0 0 0.00244969 0 0 IL1F10 84639 broad.mit.edu 37 2 113832364 113832364 + Silent SNP C C T rs34320972 byFrequency TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr2:113832364C>T ENST00000393197.2 + 3 604 c.183C>T c.(181-183)atC>atT p.I61I IL1F10_ENST00000337569.3_Silent_p.I61I|IL1F10_ENST00000341010.2_Silent_p.I61I NM_032556.5 NP_115945.4 Q8WWZ1 IL1FA_HUMAN interleukin 1 family, member 10 (theta) 61 extracellular space cytokine activity|interleukin-1 receptor antagonist activity p.I61I(2) endometrium(1)|lung(6)|ovary(1) 8 TCCTGGGGATCCAGGGAGGGA 0.582000 25 46 0 0 0.000878237 0 0 OR5D18 219438 broad.mit.edu 37 11 55587319 55587319 + Missense_Mutation SNP T T A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr11:55587319T>A ENST00000333976.4 + 1 234 c.214T>A c.(214-216)Ttc>Atc p.F72I NM_001001952.1 NP_001001952.1 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, member 18 72 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_epithelial(135;0.208) CTTTGTGGATTTCTGCTATTC 0.408000 56 107 0 0 0.000781405 0 0 PROKR2 128674 broad.mit.edu 37 20 5282886 5282886 + Nonsense_Mutation SNP C C A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr20:5282886C>A ENST00000546004.1 - 3 1201 c.955G>T c.(955-957)Gag>Tag p.E319* PROKR2_ENST00000217270.3_Nonsense_Mutation_p.E319* Q8NFJ6 PKR2_HUMAN prokineticin receptor 2 319 integral to membrane|plasma membrane neuropeptide Y receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 53 GCGATGCACTCGACCACGTAG 0.517000 HNSCC(71;0.22) 5 113 0.00116845 0.00566261 0.00116845 1 0 KLHL32 114792 broad.mit.edu 37 6 97561953 97561953 + Missense_Mutation SNP C C T rs35641414 TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr6:97561953C>T ENST00000369261.4 + 7 1285 c.922C>T c.(922-924)Cgg>Tgg p.R308W KLHL32_ENST00000536676.1_Missense_Mutation_p.R272W|KLHL32_ENST00000544166.1_Intron|KLHL32_ENST00000539200.1_Missense_Mutation_p.R239W NM_052904.3 NP_443136.2 Q96NJ5 KLH32_HUMAN kelch-like family member 32 308 p.R308W(1) breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 38 all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122) BRCA - Breast invasive adenocarcinoma(108;0.0558) CAAGGAACTTCGGTACTTCAA 0.527000 24 53 0 0 0.00229938 0 0 METTL13 51603 broad.mit.edu 37 1 171761229 171761229 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:171761229C>T ENST00000361735.3 + 6 1813 c.1547C>T c.(1546-1548)cCa>cTa p.P516L METTL13_ENST00000367737.5_Missense_Mutation_p.P360L|METTL13_ENST00000466643.1_3'UTR|METTL13_ENST00000362019.3_Missense_Mutation_p.P430L|METTL13_ENST00000458517.1_Missense_Mutation_p.P515L NM_015935.4 NP_057019.3 Q8N6R0 MTL13_HUMAN methyltransferase like 13 516 methyltransferase activity|protein binding breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3) 41 GATCATTTTCCAAAGTCCTGC 0.522000 24 123 0 0 0.000586117 0 0 ZC3H18 124245 broad.mit.edu 37 16 88643604 88643604 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr16:88643604G>A ENST00000301011.5 + 2 273 c.73G>A c.(73-75)Gac>Aac p.D25N ZC3H18_ENST00000452588.2_Missense_Mutation_p.D25N NM_144604.3 NP_653205.3 Q86VM9 ZCH18_HUMAN zinc finger CCCH-type containing 18 25 nucleus nucleic acid binding|zinc ion binding endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 42 BRCA - Breast invasive adenocarcinoma(80;0.0542) GGGACTCTCGGACGATGACAT 0.602000 11 25 0 0 0.000978159 0 0 PCDHGA9 56107 broad.mit.edu 37 5 140784766 140784766 + Silent SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr5:140784766C>T ENST00000573521.1 + 1 2247 c.2247C>T c.(2245-2247)ttC>ttT p.F749F PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron NM_018921.2|NM_032089.1 NP_061744.1|NP_114478.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTCGAGCTTTCCTACAGACCT 0.567000 37 27 0 0 0.000692331 0 0 AHSG 197 broad.mit.edu 37 3 186338685 186338685 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr3:186338685C>T ENST00000411641.2 + 7 1289 c.1070C>T c.(1069-1071)cCa>cTa p.P357L AHSG_ENST00000273784.5_Missense_Mutation_p.P358L P02765 FETUA_HUMAN alpha-2-HS-glycoprotein 357 acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development extracellular space cysteine-type endopeptidase inhibitor activity|protein binding central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1) 22 all_cancers(143;3.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.27e-20) GBM - Glioblastoma multiforme(93;0.0463) GTGGTTCCTCCATGTCCGGGG 0.562000 12 27 0 0 0.000978159 0 0 C6orf118 168090 broad.mit.edu 37 6 165715373 165715373 + Silent SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr6:165715373G>A ENST00000543069.1 - 2 707 c.126C>T c.(124-126)ttC>ttT p.F42F C6orf118_ENST00000230301.8_Silent_p.F146F Q5T5N4 CF118_HUMAN chromosome 6 open reading frame 118 146 breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157) OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313) CCACTGGAAGGAAATCCTCCT 0.627000 44 79 0 0 0.000781405 0 0 CCDC19 25790 broad.mit.edu 37 1 159846476 159846476 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:159846476C>T ENST00000426543.2 - 10 1422 c.967G>A c.(967-969)Gaa>Aaa p.E323K CCDC19_ENST00000368099.4_Missense_Mutation_p.E408K|CCDC19_ENST00000476696.1_5'UTR Q9UL16 CCD19_HUMAN coiled-coil domain containing 19 408 mitochondrion|soluble fraction p.E408delE(1) endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 26 all_hematologic(112;0.0597) BRCA - Breast invasive adenocarcinoma(70;0.151) CGCGCATTTTCCTTTTCCTTT 0.562000 21 45 0 0 0.00121646 0 0 NBEA 26960 broad.mit.edu 37 13 36242646 36242646 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr13:36242646C>T ENST00000400445.3 + 57 9274 c.8740C>T c.(8740-8742)Cat>Tat p.H2914Y NBEA_ENST00000379939.2_Missense_Mutation_p.H2911Y|NBEA_ENST00000537702.1_Missense_Mutation_p.H707Y|NBEA_ENST00000379922.3_Missense_Mutation_p.H492Y|NBEA_ENST00000310336.4_Missense_Mutation_p.H2914Y|NBEA_ENST00000540320.1_Missense_Mutation_p.H2914Y NM_015678.4 NP_056493.3 Q8NFP9 NBEA_HUMAN neurobeachin 2914 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) GGACTTGTCCCATGACCAGAG 0.493000 19 21 0 0 0.00229938 0 0 LAMC1 3915 broad.mit.edu 37 1 183083683 183083683 + Nonsense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:183083683C>T ENST00000258341.4 + 5 1296 c.1039C>T c.(1039-1041)Cga>Tga p.R347* NM_002293.3 NP_002284.3 P11047 LAMC1_HUMAN laminin, gamma 1 (formerly LAMB2) 347 Laminin EGF-like 2. axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex extracellular matrix structural constituent NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 76 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TTGCAATGGTCGATCCCAGGA 0.468000 35 282 0 0 0.00222228 0 0 OR10A7 121364 broad.mit.edu 37 12 55614962 55614962 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr12:55614962G>A ENST00000326258.1 + 1 154 c.154G>A c.(154-156)Gat>Aat p.D52N NM_001005280.1 NP_001005280.1 Q8NGE5 O10A7_HUMAN olfactory receptor, family 10, subfamily A, member 7 52 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3) 24 TACCAGTGTGGATCTCGCACT 0.393000 61 144 0 0 0.000781405 0 0 ARL5A 26225 broad.mit.edu 37 2 152684689 152684689 + Translation_Start_Site SNP A A G TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr2:152684689A>G ENST00000295087.8 - 1 313 c.2T>C c.(1-3)aTg>aCg p.M1T ARL5A_ENST00000428992.2_Intron|ARL5A_ENST00000487723.1_5'UTR NM_001037174.1|NM_012097.3 NP_001032251.1|NP_036229.1 Q9Y689 ARL5A_HUMAN ADP-ribosylation factor-like 5A 1 small GTPase mediated signal transduction intracellular GTP binding breast(1)|large_intestine(2)|liver(1)|lung(2) 6 BRCA - Breast invasive adenocarcinoma(221;0.153) GAGAATTCCCATTCTCGGGCA 0.677000 5 28 0 0 0.000602214 0 0 TMEM37 140738 broad.mit.edu 37 2 120194514 120194514 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr2:120194514C>T ENST00000306406.4 + 2 106 c.71C>T c.(70-72)tCc>tTc p.S24F TMEM37_ENST00000465296.1_3'UTR|TMEM37_ENST00000409826.1_Missense_Mutation_p.S36F NM_183240.2 NP_899063.2 Q8WXS4 CCGL_HUMAN transmembrane protein 37 24 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 TTCTTTGAATCCTTCATCCGG 0.627000 28 47 0 0 0.00106085 0 0 ZC3H18 124245 broad.mit.edu 37 16 88643603 88643603 + Silent SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr16:88643603G>A ENST00000301011.5 + 2 272 c.72G>A c.(70-72)tcG>tcA p.S24S ZC3H18_ENST00000452588.2_Silent_p.S24S NM_144604.3 NP_653205.3 Q86VM9 ZCH18_HUMAN zinc finger CCCH-type containing 18 24 nucleus nucleic acid binding|zinc ion binding endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 42 BRCA - Breast invasive adenocarcinoma(80;0.0542) AGGGACTCTCGGACGATGACA 0.597000 11 25 0 0 0.000978159 0 0 ROS1 6098 broad.mit.edu 37 6 117645561 117645561 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr6:117645561C>T ENST00000368508.3 - 34 5773 c.5575G>A c.(5575-5577)Gaa>Aaa p.E1859K GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.E1853K NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 1859 transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) AAACTTGTTTCTGGTATCCAA 0.294000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 12 26 0 0 0.00136819 0 0 ABCB5 340273 broad.mit.edu 37 7 20767987 20767987 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr7:20767987C>T ENST00000404938.2 + 23 3428 c.2776C>T c.(2776-2778)Cat>Tat p.H926Y ABCB5_ENST00000258738.6_Missense_Mutation_p.H481Y NM_001163941.1 NP_001157413.1 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 5 481 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 TGCATTCAGCCATGCCTTTAT 0.403000 35 105 0 0 0.000692331 0 0 SNHG14 104472715 broad.mit.edu 37 15 25227215 25227215 + RNA SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr15:25227215C>T ENST00000551631.2 + 0 518 SNHG14_ENST00000551361.1_RNA|SNHG14_ENST00000459433.1_RNA NR_001293.1 ACTCTGAAATCCAGTCAGTGT 0.363000 81 145 0 0 0.000781405 0 0 KIF5C 3800 broad.mit.edu 37 2 149806890 149806890 + Silent SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr2:149806890G>A ENST00000435030.1 + 10 1250 c.882G>A c.(880-882)ggG>ggA p.G294G KIF5C_ENST00000397413.1_Silent_p.G62G|KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000414838.2_Silent_p.G199G O60282 KIF5C_HUMAN kinesin family member 5C 294 Kinesin-motor.|Microtubule-binding. microtubule-based movement|organelle organization cytoplasm|kinesin complex|microtubule ATP binding|microtubule motor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 BRCA - Breast invasive adenocarcinoma(221;0.108) CTTTGGGTGGGAACTGCAGAA 0.473000 17 30 0 0 0.00074312 0 0 CER1 9350 broad.mit.edu 37 9 14722193 14722193 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr9:14722193C>T ENST00000380911.3 - 1 522 c.478G>A c.(478-480)Gag>Aag p.E160K NM_005454.2 NP_005445.1 O95813 CER1_HUMAN cerberus 1, DAN family BMP antagonist 160 BMP signaling pathway extracellular space cytokine activity endometrium(2)|large_intestine(3)|lung(6) 11 GBM - Glioblastoma multiforme(50;3.16e-06) CTGCAGGTCTCCCAATGTACT 0.522000 24 23 0 0 0.000586117 0 0 C16orf82 162083 broad.mit.edu 37 16 27078315 27078315 + RNA SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr16:27078315C>T ENST00000505035.1 + 0 288 RP11-673P17.2_ENST00000565783.1_RNA Q7Z2V1 TNT_HUMAN GGCCCCCTCTCCCTGGATAAA 0.537000 19 35 0 0 0.00121646 0 0 CUL5 8065 broad.mit.edu 37 11 107965615 107965615 + Silent SNP T T A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr11:107965615T>A ENST00000393094.2 + 15 2260 c.1644T>A c.(1642-1644)ccT>ccA p.P548P NM_003478.3 NP_003469.2 Q93034 CUL5_HUMAN cullin 5 548 cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction cullin-RING ubiquitin ligase complex|cytosol calcium channel activity|receptor activity|ubiquitin protein ligase binding endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1) 23 all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217) TCTCACTTCCTACTGAACTGG 0.358000 8 52 0 0 0.000274275 0 0 MYH3 4621 broad.mit.edu 37 17 10552993 10552993 + Silent SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr17:10552993G>A ENST00000583535.1 - 7 630 c.543C>T c.(541-543)tcC>tcT p.S181S MYH3_ENST00000226209.7_Silent_p.S181S NM_002470.3 NP_002461.2 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, embryonic 181 Myosin head-like. 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 TTCCTGCCCCGGATTCTCCGC 0.478000 28 39 0 0 0.00178596 0 0 ATP1A3 478 broad.mit.edu 37 19 42479928 42479928 + Missense_Mutation SNP C C G TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr19:42479928C>G ENST00000545399.1 - 16 2308 c.2155G>C c.(2155-2157)Ggg>Cgg p.G719R ATP1A3_ENST00000543770.1_Missense_Mutation_p.G717R|ATP1A3_ENST00000602133.1_Missense_Mutation_p.G676R|ATP1A3_ENST00000302102.5_Missense_Mutation_p.G706R NM_001256214.1 NP_001243143.1 P13637 AT1A3_HUMAN ATPase, Na+/K+ transporting, alpha 3 polypeptide 706 ATP biosynthetic process endoplasmic reticulum|Golgi apparatus ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 52 ACACCATCCCCGGTCACAGCC 0.617000 12 63 0 0 0.00136819 0 0 FMO1 2326 broad.mit.edu 37 1 171254677 171254677 + Silent SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:171254677C>T ENST00000354841.4 + 8 1724 c.1593C>T c.(1591-1593)ttC>ttT p.F531F FMO1_ENST00000402921.2_Silent_p.F468F|FMO1_ENST00000367750.3_Silent_p.F531F|FMO1_ENST00000469112.1_3'UTR Q01740 FMO1_HUMAN flavin containing monooxygenase 1 531 NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2) 27 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TTCTGATTTTCCTATAAGTAA 0.363000 14 30 0 0 0.00244969 0 0 SNHG14 104472715 broad.mit.edu 37 15 25427525 25427525 + RNA SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr15:25427525C>T ENST00000424208.1 + 0 272 NR_003305.1 AGGGGGTGCCCTGGGTTGGGT 0.532000 43 127 0 0 0.000781405 0 0 DAPL1 92196 broad.mit.edu 37 2 159663565 159663565 + Splice_Site SNP A A C TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr2:159663565A>C ENST00000309950.3 + 3 202 c.e3-1 DAPL1_ENST00000409042.1_Splice_Site NM_001017920.2 NP_001017920.2 A0PJW8 DAPL1_HUMAN death associated protein-like 1 apoptosis|cell differentiation prostate(1) 1 TCATCTTCACAGTGCCATTGC 0.438000 7 18 0 0 0.00198382 0 0 ASTN2 23245 broad.mit.edu 37 9 119188211 119188211 + Silent SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr9:119188211G>A ENST00000313400.4 - 23 4039 c.3939C>T c.(3937-3939)atC>atT p.I1313I ASTN2_ENST00000373996.3_Silent_p.I1309I|ASTN2_ENST00000361477.3_Silent_p.I365I|ASTN2_ENST00000341734.4_Silent_p.I365I|ASTN2_ENST00000361209.2_Silent_p.I1262I|ASTN2_ENST00000288520.5_Silent_p.I414I O75129 ASTN2_HUMAN astrotactin 2 1313 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 TGTCCTTGAGGATGCTATACC 0.592000 11 16 0 0 0.000978159 0 0 SLCO5A1 81796 broad.mit.edu 37 8 70667861 70667861 + Silent SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr8:70667861G>A ENST00000260126.3 - 4 1762 c.1056C>T c.(1054-1056)ctC>ctT p.L352L SLCO5A1_ENST00000524945.1_Silent_p.L352L|SLCO5A1_ENST00000530307.1_Silent_p.L352L NM_030958.2 NP_112220.2 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, member 5A1 352 integral to membrane|plasma membrane transporter activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) TGGCACAAAGGAGGAATCCAC 0.343000 13 24 0 0 0.00136819 0 0 PTCD1 26024 broad.mit.edu 37 7 99032539 99032539 + Silent SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr7:99032539G>A ENST00000292478.4 - 2 577 c.327C>T c.(325-327)ttC>ttT p.F109F ATP5J2-PTCD1_ENST00000413834.1_Silent_p.F158F|PTCD1_ENST00000485746.1_5'UTR|PTCD1_ENST00000555673.1_Silent_p.F158F NM_015545.3 NP_056360.2 pentatricopeptide repeat domain 1 endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1) 27 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) GCAGGTTATGGAACTGGGCTG 0.557000 97 112 0 0 0.000781405 0 0 OBSCN 84033 broad.mit.edu 37 1 228494858 228494858 + Silent SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:228494858C>T ENST00000570156.2 + 56 15128 c.15054C>T c.(15052-15054)ctC>ctT p.L5018L OBSCN_ENST00000366707.4_Silent_p.L1695L|OBSCN_ENST00000422127.1_Silent_p.L4061L|OBSCN_ENST00000284548.11_Silent_p.L4061L|OBSCN_ENST00000366709.4_Silent_p.L1180L NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 4061 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) TGGCCAGCCTCTCTGTCCGTG 0.632000 14 75 0 0 0.000422831 0 0 DNAH8 1769 broad.mit.edu 37 6 38830135 38830135 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr6:38830135G>A ENST00000359357.3 + 42 5814 c.5560G>A c.(5560-5562)Gaa>Aaa p.E1854K DNAH8_ENST00000449981.2_Missense_Mutation_p.E2071K|DNAH8_ENST00000441566.1_Missense_Mutation_p.E1854K dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 TGGCAAAACAGAAACCACAAA 0.463000 35 67 0 0 0.000814825 0 0 TADA3 10474 broad.mit.edu 37 3 9827025 9827025 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr3:9827025G>A ENST00000343450.2 - 7 1442 c.895C>T c.(895-897)Cct>Tct p.P299S TADA3_ENST00000440161.1_Missense_Mutation_p.P299S|TADA3_ENST00000301964.2_Missense_Mutation_p.P299S NM_133480.1 NP_597814.1 O75528 TADA3_HUMAN transcriptional adaptor 3 299 estrogen receptor signaling pathway|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex ligand-dependent nuclear receptor binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1) 16 TGATTGCGAGGGGAGGTGCTT 0.517000 19 39 0 0 0.00229938 0 0 RIMS2 9699 broad.mit.edu 37 8 104897590 104897590 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr8:104897590G>A ENST00000507740.1 + 2 423 c.187G>A c.(187-189)Gaa>Aaa p.E63K RIMS2_ENST00000262231.10_Missense_Mutation_p.E63K|RIMS2_ENST00000522174.1_3'UTR|RIMS2_ENST00000406091.3_Missense_Mutation_p.E255K|RIMS2_ENST00000436393.2_Missense_Mutation_p.E33K NM_014677.4 NP_055492.3 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 286 RabBD. intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) AGAAAGAGAGGAATATTCACA 0.413000 HNSCC(12;0.0054) 12 23 0 0 0.00185496 0 0 SYT11 23208 broad.mit.edu 37 1 155838375 155838375 + Silent SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:155838375C>T ENST00000368324.4 + 2 907 c.654C>T c.(652-654)acC>acT p.T218T SYT11_ENST00000539162.1_Intron NM_152280.4 NP_689493.3 Q9BT88 SYT11_HUMAN synaptotagmin XI 218 C2 1. cell junction|synaptic vesicle membrane protein binding|transporter activity breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;0.000162) TGCGGAAGACCCTGGACCCTG 0.557000 12 49 0 0 0.000978159 0 0 CD19 930 broad.mit.edu 37 16 28950019 28950019 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr16:28950019G>A ENST00000538922.1 + 13 1574 c.1512G>A c.(1510-1512)atG>atA p.M504I CD19_ENST00000567541.1_Missense_Mutation_p.M504I|CD19_ENST00000324662.3_Missense_Mutation_p.M503I NM_001178098.1|NM_001770.5 NP_001171569.1|NP_001761.3 P15391 CD19_HUMAN CD19 molecule 503 cellular defense response external side of plasma membrane|integral to plasma membrane protein binding|receptor signaling protein activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1) 29 ATGAGGATATGAGAGGAATCC 0.607000 16 41 0 0 0.00121646 0 0 DGKK 139189 broad.mit.edu 37 X 50119821 50119821 + RNA SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chrX:50119821G>A ENST00000376025.2 - 0 3266 Q5KSL6 DGKK_HUMAN diacylglycerol kinase, kappa activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(276;0.236) TCGTCAGAGAGGCTCTCTTGA 0.502000 9 24 0 0 0.000978159 0 0 TRAPPC11 60684 broad.mit.edu 37 4 184589218 184589218 + Missense_Mutation SNP A A G TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr4:184589218A>G ENST00000334690.6 + 5 710 c.508A>G c.(508-510)Aag>Gag p.K170E TRAPPC11_ENST00000357207.4_Missense_Mutation_p.K170E|TRAPPC11_ENST00000511409.1_3'UTR NM_021942.5 NP_068761.4 Q7Z392 CD041_HUMAN trafficking protein particle complex 11 170 ACTCTCAGGAAAGTCTTTGTT 0.358000 55 116 0 0 0.000781405 0 0 TUBB2A 7280 broad.mit.edu 37 6 3155866 3155866 + Silent SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr6:3155866G>A ENST00000333628.3 - 3 332 c.270C>T c.(268-270)ttC>ttT p.F90F TUBB2A_ENST00000489942.1_5'UTR NM_001069.2 NP_001060.1 Q13885 TBB2A_HUMAN tubulin, beta 2A class IIa 90 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity endometrium(2)|large_intestine(4)|lung(2)|skin(1) 9 Ovarian(93;0.0386) all_hematologic(90;0.0895) TACCGAACACGAAGTTGTCTG 0.517000 10 32 0 0 0.00136819 0 0 OR2T2 401992 broad.mit.edu 37 1 248616173 248616173 + Silent SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:248616173C>T ENST00000342927.3 + 1 97 c.75C>T c.(73-75)ccC>ccT p.P25P NM_001004136.1 NP_001004136.1 Q6IF00 OR2T2_HUMAN olfactory receptor, family 2, subfamily T, member 2 25 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 37 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) CTGCCTTCCCCGGGCTTCTCT 0.537000 44 304 0 0 0.000781405 0 0 HVCN1 84329 broad.mit.edu 37 12 111089247 111089247 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr12:111089247G>A ENST00000356742.5 - 5 1171 c.418C>T c.(418-420)Cac>Tac p.H140Y HVCN1_ENST00000439744.2_Missense_Mutation_p.H120Y|HVCN1_ENST00000242607.8_Missense_Mutation_p.H140Y|HVCN1_ENST00000548312.1_Missense_Mutation_p.H140Y Q96D96 HVCN1_HUMAN hydrogen voltage-gated channel 1 140 response to pH|response to zinc ion integral to membrane voltage-gated proton channel activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 19 CTCATGTAGTGGAATACCTGA 0.478000 10 15 0 0 0.000442599 0 0 NPBWR2 2832 broad.mit.edu 37 20 62737683 62737683 + Silent SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr20:62737683G>A ENST00000369768.1 - 1 841 c.502C>T c.(502-504)Ctg>Ttg p.L168L NM_005286.2 NP_005277.2 P48146 NPBW2_HUMAN neuropeptides B/W receptor 2 168 plasma membrane opioid receptor activity|protein binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09) CAGACACACAGGCTGGCGACC 0.652000 7 26 0 0 0.000442599 0 0 WDR90 197335 broad.mit.edu 37 16 706315 706315 + Silent SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr16:706315C>T ENST00000549091.1 + 18 2072 c.1980C>T c.(1978-1980)ccC>ccT p.P660P WDR90_ENST00000293879.4_Silent_p.P660P NM_145294.4 NP_660337.3 Q96KV7 WDR90_HUMAN WD repeat domain 90 660 endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 37 Hepatocellular(780;0.0218) ACGAGGGCCCCGTCAGCTCAG 0.697000 5 16 0 0 0.00116845 0 0 HERC2P3 283755 broad.mit.edu 37 15 20645838 20645838 + RNA SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr15:20645838G>A ENST00000428453.1 - 0 2927 central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 GCGTGAGAGCGATGCTCTGCA 0.612000 11 12 0 0 0.000978159 0 0 PNLIPRP1 5407 broad.mit.edu 37 10 118365033 118365033 + Silent SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr10:118365033G>A ENST00000528052.1 + 12 1379 c.1308G>A c.(1306-1308)aaG>aaA p.K436K PNLIPRP1_ENST00000358834.4_Silent_p.K436K|PNLIPRP1_ENST00000534537.1_Silent_p.K436K P54315 LIPR1_HUMAN pancreatic lipase-related protein 1 436 PLAT. lipid metabolic process calcium ion binding|triglyceride lipase activity breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 38 all cancers(201;0.0161) GTGCCACCAAGATCACTGTGC 0.413000 10 22 0 0 0.000978159 0 0 MTOR 2475 broad.mit.edu 37 1 11303281 11303281 + Silent SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:11303281G>A ENST00000361445.4 - 9 1378 c.1302C>T c.(1300-1302)ttC>ttT p.F434F NM_004958.3 NP_004949.1 P42345 MTOR_HUMAN mechanistic target of rapamycin (serine/threonine kinase) 434 cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 149 CCAGGGCTTGGAAGGCCGCTG 0.522000 21 58 0 0 0.00152264 0 0 RGS21 431704 broad.mit.edu 37 1 192335163 192335163 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:192335163C>T ENST00000417209.2 + 5 542 c.368C>T c.(367-369)tCt>tTt p.S123F NM_001039152.3 NP_001034241.1 Q2M5E4 RGS21_HUMAN regulator of G-protein signaling 21 123 RGS. negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1) 15 GCCAAGGATTCTTTCCCTCGA 0.378000 23 110 0 0 0.00047179 0 0 C6orf165 154313 broad.mit.edu 37 6 88173827 88173827 + Silent SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr6:88173827G>A ENST00000507897.1 + 13 1811 c.1728G>A c.(1726-1728)aaG>aaA p.K576K C6orf165_ENST00000506888.1_3'UTR|C6ORF165_ENST00000369562.4_Silent_p.K576K Q8IYR0 CF165_HUMAN chromosome 6 open reading frame 165 576 NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0419) ACCCTCCAAAGGACACTAGCA 0.478000 15 27 0 0 0.000308642 0 0 MUC16 94025 broad.mit.edu 37 19 9068414 9068414 + Silent SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr19:9068414G>A ENST00000397910.4 - 3 19235 c.19032C>T c.(19030-19032)tcC>tcT p.S6344S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 6346 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 GCATTGATGTGGAAACTATTG 0.438000 14 38 0 0 0.00185496 0 0 ACTN2 88 broad.mit.edu 37 1 236914939 236914939 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:236914939C>T ENST00000366578.4 + 15 1992 c.1826C>T c.(1825-1827)aCc>aTc p.T609I ACTN2_ENST00000542672.1_Missense_Mutation_p.T609I|ACTN2_ENST00000546208.1_Missense_Mutation_p.T103I NM_001103.2|NM_001278343.1 NP_001094.1|NP_001265272.1 P35609 ACTN2_HUMAN actinin, alpha 2 609 focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3) 86 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) GAGCTCCGGACCAAGTGGGAC 0.567000 9 51 0 0 0.000978159 0 0 NPY5R 4889 broad.mit.edu 37 4 164272238 164272238 + Silent SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr4:164272238C>T ENST00000515560.1 + 4 2335 c.813C>T c.(811-813)ctC>ctT p.L271L NPY5R_ENST00000338566.3_Silent_p.L271L|NPY5R_ENST00000506953.1_Silent_p.L271L Q15761 NPY5R_HUMAN neuropeptide Y receptor Y5 271 cardiac left ventricle morphogenesis|outflow tract morphogenesis integral to plasma membrane NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_hematologic(180;0.166) Prostate(90;0.109) AGGTGAAACTCTCTGGCAGCC 0.398000 19 69 0 0 0.00152264 0 0 SCN11A 11280 broad.mit.edu 37 3 38938447 38938447 + Silent SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr3:38938447G>A ENST00000450244.1 - 14 2490 c.2292C>T c.(2290-2292)atC>atT p.I764I SCN11A_ENST00000444237.2_Silent_p.I764I|SCN11A_ENST00000302328.3_Silent_p.I764I|SCN11A_ENST00000456224.3_Silent_p.I764I Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 764 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) CCCCGCAGAGGATGCGGAATA 0.473000 10 32 0 0 0.000673444 0 0 CHEK2P2 646096 broad.mit.edu 37 15 20495446 20495446 + RNA SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr15:20495446G>A ENST00000555186.1 + 0 649 NR_038836.1 TTCTAGCCCAGGTATTCGTAT 0.383000 9 64 0 0 0.000442599 0 0 PGLYRP4 57115 broad.mit.edu 37 1 153309673 153309673 + Silent SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:153309673G>A ENST00000368739.3 - 8 1273 c.915C>T c.(913-915)ttC>ttT p.F305F PGLYRP4_ENST00000359650.5_Silent_p.F309F Q96LB8 PGRP4_HUMAN peptidoglycan recognition protein 4 309 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1) 23 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) AGGTGCCCATGAAGGTAATGC 0.522000 16 71 0 0 0.000958276 0 0 TBX19 9095 broad.mit.edu 37 1 168260534 168260534 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:168260534C>T ENST00000367821.3 + 2 391 c.340C>T c.(340-342)Cca>Tca p.P114S NM_005149.2 NP_005140.1 O60806 TBX19_HUMAN T-box 19 114 anatomical structure morphogenesis nucleus DNA binding NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1) 34 all_hematologic(923;0.215) CGCTGGCAAGCCAGAGGTCTC 0.587000 22 103 0 0 0.00106085 0 0 GPRC5A 9052 broad.mit.edu 37 12 13061445 13061445 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr12:13061445G>A ENST00000014914.5 + 2 1152 c.262G>A c.(262-264)Gga>Aga p.G88R GPRC5A_ENST00000542056.1_Intron NM_003979.3 NP_003970.1 Q8NFJ5 RAI3_HUMAN G protein-coupled receptor, family C, group 5, member A 88 cytoplasmic vesicle membrane|Golgi apparatus|integral to plasma membrane G-protein coupled receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 18 Prostate(47;0.141) BRCA - Breast invasive adenocarcinoma(232;0.0708) Tretinoin(DB00755) CTTCATCATCGGACTGGACGG 0.552000 54 134 0 0 0.000781405 0 0 TNS1 7145 broad.mit.edu 37 2 218669216 218669216 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr2:218669216G>A ENST00000171887.4 - 33 5626 c.5174C>T c.(5173-5175)tCc>tTc p.S1725F TNS1_ENST00000430930.1_Missense_Mutation_p.S1704F|TNS1_ENST00000419504.1_Missense_Mutation_p.S1711F NM_022648.4 NP_072174.3 Q9HBL0 TENS1_HUMAN tensin 1 1725 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) CATGACCTTGGAGACGAAGTT 0.627000 28 84 0 0 0.000692331 0 0 BCL11A 53335 broad.mit.edu 37 2 60688028 60688028 + Silent SNP G G A rs115953983 by1000genomes TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr2:60688028G>A ENST00000335712.6 - 4 2246 c.2019C>T c.(2017-2019)ttC>ttT p.F673F BCL11A_ENST00000537768.1_Silent_p.F342F|BCL11A_ENST00000358510.4_Silent_p.F639F|BCL11A_ENST00000538214.1_Silent_p.F639F|BCL11A_ENST00000356842.4_Silent_p.F673F|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000359629.5_Intron NM_022893.3 NP_075044.2 Q9H165 BC11A_HUMAN B-cell CLL/lymphoma 11A (zinc finger protein) 673 negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 59 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) CGAAGCTAAGGAAGGGATCTT 0.642000 T IGH@ B-CLL 145 326 0 0 0.000781405 0 0 NID1 4811 broad.mit.edu 37 1 236175286 236175286 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:236175286G>A ENST00000264187.6 - 12 2544 c.2462C>T c.(2461-2463)cCa>cTa p.P821L NID1_ENST00000366595.3_Intron NM_002508.2 NP_002499.2 P14543 NID1_HUMAN nidogen 1 821 EGF-like 5; calcium-binding (Potential). cell-matrix adhesion basement membrane calcium ion binding breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1) 66 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) GAAAGAGCCTGGAGTGTTGTA 0.552000 20 45 0 0 0.00229938 0 0 UBXN4 23190 broad.mit.edu 37 2 136505928 136505928 + Silent SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr2:136505928C>T ENST00000272638.9 + 2 485 c.174C>T c.(172-174)atC>atT p.I58I NM_014607.3 NP_055422.1 Q92575 UBXN4_HUMAN UBX domain protein 4 58 response to unfolded protein endoplasmic reticulum membrane|nuclear envelope protein binding NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 24 CTATTAAAATCGATACCAAAA 0.289000 7 34 0 0 0.00198382 0 0 WFDC8 90199 broad.mit.edu 37 20 44181906 44181906 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr20:44181906C>T ENST00000357199.4 - 5 533 c.455G>A c.(454-456)gGa>gAa p.G152E WFDC8_ENST00000289953.2_Missense_Mutation_p.G152E NM_181510.2 NP_852611.2 Q8IUA0 WFDC8_HUMAN WAP four-disulfide core domain 8 152 WAP 2. extracellular region serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1) 15 Myeloproliferative disorder(115;0.0122) TGGGCATTGTCCATCCTTAAC 0.468000 9 31 0 0 0.000673444 0 0 PTPRA 5786 broad.mit.edu 37 20 2969051 2969051 + Silent SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr20:2969051G>A ENST00000216877.6 + 8 1042 c.642G>A c.(640-642)gtG>gtA p.V214V PTPRA_ENST00000399903.2_Silent_p.V223V|PTPRA_ENST00000380393.3_Silent_p.V223V|PTPRA_ENST00000356147.3_Silent_p.V214V|PTPRA_ENST00000425918.2_Silent_p.V234V|PTPRA_ENST00000358719.4_Silent_p.V79V|PTPRA_ENST00000318266.5_Silent_p.V214V NM_080840.2 NP_543030.1 P18433 PTPRA_HUMAN protein tyrosine phosphatase, receptor type, A 223 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 CCCTGCCCGTGGACAAGCTGG 0.527000 25 44 0 0 0.000586117 0 0 PREX2 80243 broad.mit.edu 37 8 69129915 69129915 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr8:69129915C>T ENST00000288368.4 + 38 4946 c.4669C>T c.(4669-4671)Cgt>Tgt p.R1557C NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 1557 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity p.R1557C(1) NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 ACTGCCACCTCGTTACATCAT 0.552000 9 17 0 0 0.000673444 0 0 DNAH8 1769 broad.mit.edu 37 6 38854607 38854607 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr6:38854607G>A ENST00000359357.3 + 55 7903 c.7649G>A c.(7648-7650)gGa>gAa p.G2550E DNAH8_ENST00000449981.2_Missense_Mutation_p.G2767E|DNAH8_ENST00000441566.1_Missense_Mutation_p.G2514E dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 GAAATGGAAGGAATGTACAGC 0.398000 12 55 0 0 0.00185496 0 0 SETDB1 9869 broad.mit.edu 37 1 150902529 150902529 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:150902529C>T ENST00000271640.5 + 3 537 c.347C>T c.(346-348)tCt>tTt p.S116F SETDB1_ENST00000368969.4_Missense_Mutation_p.S116F|SETDB1_ENST00000368963.1_Missense_Mutation_p.S116F|SETDB1_ENST00000368962.2_Missense_Mutation_p.S116F|SETDB1_ENST00000459773.1_3'UTR NM_001145415.1|NM_012432.3 NP_001138887.1|NP_036564.3 Q15047 SETB1_HUMAN SET domain, bifurcated 1 116 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|Golgi apparatus|nucleus|plasma membrane DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 12 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211) GAGGACGAATCTTCCCGGCCT 0.448000 17 80 0 0 0.00074312 0 0 DNAH10 196385 broad.mit.edu 37 12 124403268 124403268 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr12:124403268G>A ENST00000409039.3 + 64 10949 c.10924G>A c.(10924-10926)Gac>Aac p.D3642N NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 3642 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) CTTGGACATCGACAGGCTGCG 0.577000 9 19 0 0 0.000673444 0 0 SNRPC 6631 broad.mit.edu 37 6 34741275 34741275 + Silent SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr6:34741275C>T ENST00000374017.3 + 5 758 c.471C>T c.(469-471)ccC>ccT p.P157P SNRPC_ENST00000474635.1_3'UTR|SNRPC_ENST00000374018.1_Silent_p.P95P|SNRPC_ENST00000244520.5_Silent_p.P136P P09234 RU1C_HUMAN small nuclear ribonucleoprotein polypeptide C 136 spliceosomal snRNP assembly Cajal body|U1 snRNP protein homodimerization activity|single-stranded RNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1) 6 TGCCTGGGCCCCCAATGATGA 0.552000 17 43 0 0 0.000566183 0 0 KCNJ1 3758 broad.mit.edu 37 11 128709568 128709568 + Silent SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr11:128709568G>A ENST00000392665.2 - 2 715 c.571C>T c.(571-573)Cta>Tta p.L191L KCNJ1_ENST00000324036.3_Silent_p.L191L|KCNJ1_ENST00000440599.2_Silent_p.L191L|KCNJ1_ENST00000392664.2_Silent_p.L210L|KCNJ1_ENST00000392666.1_Silent_p.L191L NM_153764.2 NP_722448.1 P48048 IRK1_HUMAN potassium inwardly-rectifying channel, subfamily J, member 1 210 excretion voltage-gated potassium channel complex ATP binding|inward rectifier potassium channel activity breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1) 23 all_hematologic(175;0.0641) all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425) OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942) Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124) ACTCGGATTAGGAGGCAAAGC 0.488000 25 96 0 0 0.00278032 0 0 COL25A1 84570 broad.mit.edu 37 4 109895523 109895523 + Splice_Site SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr4:109895523C>T ENST00000399132.1 - 8 1022 c.492_splice c.e8+1 p.R164_splice COL25A1_ENST00000399126.1_Splice_Site_p.R164_splice|COL25A1_ENST00000399127.1_Splice_Site_p.R164_splice NM_198721.2 NP_942014.1 Q9BXS0 COPA1_HUMAN collagen, type XXV, alpha 1 164 Collagen-like 1. collagen|extracellular space beta-amyloid binding|heparin binding NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 49 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000173) CACAACTTACCCTAGGTCCCT 0.378000 24 42 0 0 0.00047179 0 0 TJP2 9414 broad.mit.edu 37 9 71849418 71849418 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr9:71849418C>T ENST00000377245.4 + 12 1943 c.1735C>T c.(1735-1737)Cct>Tct p.P579S TJP2_ENST00000453658.2_Missense_Mutation_p.P556S|TJP2_ENST00000265384.7_Missense_Mutation_p.P579S|TJP2_ENST00000539225.1_Missense_Mutation_p.P610S|TJP2_ENST00000348208.4_Missense_Mutation_p.P579S|TJP2_ENST00000535702.1_Missense_Mutation_p.P583S NM_004817.3 NP_004808.2 Q9UDY2 ZO2_HUMAN tight junction protein 2 579 PDZ 3. cellular component disassembly involved in apoptosis adherens junction|cytoplasm|nucleus|tight junction guanylate kinase activity|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1) 35 GTTAGAAATCCCTAAAGGTGA 0.443000 26 35 0 0 0.00178596 0 0 UGT2B7 7364 broad.mit.edu 37 4 69973826 69973826 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr4:69973826C>T ENST00000305231.7 + 5 1142 c.1096C>T c.(1096-1098)Cca>Tca p.P366S UGT2B7_ENST00000508661.1_Intron|UGT2B7_ENST00000509763.1_Intron NM_001074.2 NP_001065.2 P16662 UD2B7_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B7 366 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 CCTAGGTCATCCAAAGACCAG 0.418000 31 72 0 0 0.00178596 0 0 LRBA 987 broad.mit.edu 37 4 151388908 151388908 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr4:151388908G>A ENST00000535741.1 - 44 7170 c.6697C>T c.(6697-6699)Cca>Tca p.P2233S LRBA_ENST00000507224.1_Missense_Mutation_p.P2233S|LRBA_ENST00000510413.1_Missense_Mutation_p.P2233S|LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000357115.3_Missense_Mutation_p.P2244S P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and anchor containing 2244 BEACH. endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 all_hematologic(180;0.151) GGAAACACTGGATACTGATTT 0.323000 19 58 0 0 0.00188189 0 0 SSH1 54434 broad.mit.edu 37 12 109186493 109186493 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr12:109186493G>A ENST00000326495.5 - 14 1555 c.1462C>T c.(1462-1464)Ccg>Tcg p.P488S SSH1_ENST00000360239.3_Missense_Mutation_p.P176S|SSH1_ENST00000326470.5_Missense_Mutation_p.P499S|SSH1_ENST00000551165.1_Missense_Mutation_p.P488S NM_018984.3 NP_061857.3 Q8WYL5 SSH1_HUMAN slingshot protein phosphatase 1 488 actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 TGGCTTTCCGGGGTGCCATCT 0.647000 20 44 0 0 0.00152264 0 0 SSPO 23145 broad.mit.edu 37 7 149480322 149480322 + RNA SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr7:149480322C>T ENST00000378016.2 + 0 2204 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GGAAGATGCCCCTCTGAGGAC 0.617000 5 48 0 0 0.000157383 0 0 P2RY2 5029 broad.mit.edu 37 11 72946179 72946179 + Silent SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr11:72946179C>T ENST00000311131.2 + 3 1442 c.975C>T c.(973-975)ggC>ggT p.G325G P2RY2_ENST00000393596.2_Silent_p.G325G|P2RY2_ENST00000393597.2_Silent_p.G325G NM_002564.2|NM_176072.1 NP_002555.2|NP_788086.1 P41231 P2RY2_HUMAN purinergic receptor P2Y, G-protein coupled, 2 325 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2) 25 Suramin(DB04786) CACCCACTGGCCCCAGCCCTG 0.642000 7 28 0 0 0.000274275 0 0 IGHV1OR21-1 390530 broad.mit.edu 37 21 10863024 10863024 + RNA SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr21:10863024C>T ENST00000559480.1 + 0 320 breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1) 26 AGTCTGAGATCTGAGGACACG 0.507000 47 327 0 0 0.000781405 0 0 PKHD1 5314 broad.mit.edu 37 6 51524233 51524233 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr6:51524233G>A ENST00000371117.3 - 61 10966 c.10691C>T c.(10690-10692)gCc>gTc p.A3564V NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 3564 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) CACAGTGAGGGCCAAGTGAAT 0.408000 13 53 0 0 0.00136819 0 0 ZFP64 55734 broad.mit.edu 37 20 50769728 50769728 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr20:50769728G>A ENST00000216923.4 - 6 1352 c.1003C>T c.(1003-1005)Cgc>Tgc p.R335C ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000371515.4_Missense_Mutation_p.R333C|ZFP64_ENST00000346617.4_Missense_Mutation_p.R281C NM_018197.2|NM_199426.1 NP_060667.2|NP_955458.1 Q9NPA5 ZF64A_HUMAN ZFP64 zinc finger protein 335 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 33 TGGTGCACGCGGCTGTGCTTC 0.592000 31 64 0 0 0.00209593 0 0 OR2G3 81469 broad.mit.edu 37 1 247769793 247769793 + Silent SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:247769793G>A ENST00000320002.2 + 1 938 c.906G>A c.(904-906)agG>agA p.R302R RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA NM_001001914.1 NP_001001914.1 Q8NGZ4 OR2G3_HUMAN olfactory receptor, family 2, subfamily G, member 3 302 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5) 50 all_cancers(71;3.24e-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) OV - Ovarian serous cystadenocarcinoma(106;0.017) AGGCTCTGAGGAAACTTCTCT 0.393000 34 62 0 0 0.000953801 0 0 ZNF185 7739 broad.mit.edu 37 X 152128332 152128332 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chrX:152128332G>A ENST00000535861.1 + 18 1640 c.1592G>A c.(1591-1593)gGa>gAa p.G531E ZNF185_ENST00000324823.6_Missense_Mutation_p.G267E|ZNF185_ENST00000318529.8_Missense_Mutation_p.G278E|ZNF185_ENST00000539731.1_Missense_Mutation_p.G502E|ZNF185_ENST00000370270.1_Missense_Mutation_p.G262E|ZNF185_ENST00000318504.7_Missense_Mutation_p.G440E|ZNF185_ENST00000370268.4_Missense_Mutation_p.G499E|ZNF185_ENST00000449285.2_Missense_Mutation_p.G500E NM_001178106.1 NP_001171577.1 O15231 ZN185_HUMAN zinc finger protein 185 (LIM domain) 499 cytoplasm|cytoskeleton|focal adhesion zinc ion binding NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3) 12 Acute lymphoblastic leukemia(192;6.56e-05) GGTGGCCAAGGAGACCCAGCT 0.592000 5 24 0 0 0.000602214 0 0 ASPHD1 253982 broad.mit.edu 37 16 29912596 29912596 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr16:29912596G>A ENST00000308748.5 + 1 556 c.304G>A c.(304-306)Gac>Aac p.D102N ASPHD1_ENST00000483405.1_Intron NM_181718.3 NP_859069.2 Q5U4P2 ASPH1_HUMAN aspartate beta-hydroxylase domain containing 1 102 peptidyl-amino acid modification integral to endoplasmic reticulum membrane oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity endometrium(4)|large_intestine(2)|lung(1)|prostate(1) 8 GGGCTCCCAAGACATGCAGGC 0.701000 20 61 0 0 0.00047179 0 0 HMBOX1 79618 broad.mit.edu 37 8 28876343 28876343 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr8:28876343C>T ENST00000397358.3 + 7 1468 c.764C>T c.(763-765)cCc>cTc p.P255L HMBOX1_ENST00000444075.1_Missense_Mutation_p.P255L|HMBOX1_ENST00000519047.1_Missense_Mutation_p.P255L|HMBOX1_ENST00000523613.1_Missense_Mutation_p.P255L|HMBOX1_ENST00000403668.2_Missense_Mutation_p.P255L|HMBOX1_ENST00000287701.10_Missense_Mutation_p.P255L|HMBOX1_ENST00000558662.1_Missense_Mutation_p.P255L|HMBOX1_ENST00000355231.5_Missense_Mutation_p.P255L|HMBOX1_ENST00000524238.1_Missense_Mutation_p.P255L NM_024567.3 NP_078843.2 Q6NT76 HMBX1_HUMAN homeobox containing 1 255 negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1) 11 Ovarian(32;0.0192) KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161) CAAACGCCTCCCCCAGTCTCT 0.488000 25 51 0 0 0.000720815 0 0 AMICA1 120425 broad.mit.edu 37 11 118076638 118076638 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr11:118076638C>T ENST00000292067.7 - 4 904 c.463G>A c.(463-465)Gtg>Atg p.V155M AMICA1_ENST00000533261.1_Missense_Mutation_p.V165M|AMICA1_ENST00000526620.1_Missense_Mutation_p.V126M|AMICA1_ENST00000356289.5_Missense_Mutation_p.V165M NM_153206.2 NP_694938.2 Q86YT9 JAML1_HUMAN adhesion molecule, interacts with CXADR antigen 1 165 Ig-like V-type 2. blood coagulation|cell adhesion|leukocyte migration|regulation of immune response cell junction|integral to membrane 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) ACCTTGGTCACGTGTTTCACT 0.458000 35 98 0 0 0.00195071 0 0 TNS1 7145 broad.mit.edu 37 2 218669215 218669215 + Silent SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr2:218669215G>A ENST00000171887.4 - 33 5627 c.5175C>T c.(5173-5175)tcC>tcT p.S1725S TNS1_ENST00000430930.1_Silent_p.S1704S|TNS1_ENST00000419504.1_Silent_p.S1711S NM_022648.4 NP_072174.3 Q9HBL0 TENS1_HUMAN tensin 1 1725 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) GCATGACCTTGGAGACGAAGT 0.627000 28 84 0 0 0.00058488 0 0 CCDC71 64925 broad.mit.edu 37 3 49200301 49200301 + Silent SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr3:49200301G>A ENST00000321895.6 - 2 1447 c.1341C>T c.(1339-1341)atC>atT p.I447I NM_022903.3 NP_075054.3 Q8IV32 CCD71_HUMAN coiled-coil domain containing 71 447 endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1) 10 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) TCACGCGGAGGATCCGCTGAG 0.557000 6 17 0 0 0.00198382 0 0 ARHGEF2 9181 broad.mit.edu 37 1 155931590 155931590 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:155931590C>T ENST00000368316.1 - 15 1716 c.1246G>A c.(1246-1248)Gag>Aag p.E416K ARHGEF2_ENST00000313667.4_Missense_Mutation_p.E443K|ARHGEF2_ENST00000368315.3_Missense_Mutation_p.E445K|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.E416K|ARHGEF2_ENST00000361247.4_Missense_Mutation_p.E444K Q92974 ARHG2_HUMAN Rho/Rac guanine nucleotide exchange factor (GEF) 2 444 DH. actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2) 40 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) TTGTAGATCTCCTGCAGACGG 0.607000 24 93 0 0 0.00047179 0 0 LRP5 4041 broad.mit.edu 37 11 68153959 68153959 + Silent SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr11:68153959C>T ENST00000294304.7 + 6 1297 c.1191C>T c.(1189-1191)atC>atT p.I397I NM_002335.2 NP_002326.2 O75197 LRP5_HUMAN low density lipoprotein receptor-related protein 5 397 Beta-propeller 2. adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 TGCGGGCCATCCGCAGGGCGT 0.637000 8 44 0 0 0.000157383 0 0 MAP4 4134 broad.mit.edu 37 3 47951734 47951734 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr3:47951734G>A ENST00000426837.2 - 10 4315 c.4228C>T c.(4228-4230)Ccc>Tcc p.P1410S MAP4_ENST00000395734.3_Intron|MAP4_ENST00000383737.4_Intron|MAP4_ENST00000360240.6_Intron P27816 MAP4_HUMAN microtubule-associated protein 4 897 negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2) 32 BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736) GTTTCCATGGGAACATGTATT 0.373000 5 25 0 0 0.00116845 0 0 ZZEF1 23140 broad.mit.edu 37 17 3919720 3919720 + Missense_Mutation SNP A A C TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr17:3919720A>C ENST00000381638.2 - 49 8166 c.8042T>G c.(8041-8043)cTg>cGg p.L2681R NM_015113.3 NP_055928.3 O43149 ZZEF1_HUMAN zinc finger, ZZ-type with EF-hand domain 1 2681 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 CATGGTCCCCAGCATGTCCTC 0.567000 9 42 0 0 0.000442599 0 0 ACTN2 88 broad.mit.edu 37 1 236923026 236923026 + Silent SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:236923026G>A ENST00000366578.4 + 19 2470 c.2304G>A c.(2302-2304)agG>agA p.R768R ACTN2_ENST00000542672.1_Silent_p.R768R|ACTN2_ENST00000546208.1_Silent_p.R262R NM_001103.2|NM_001278343.1 NP_001094.1|NP_001265272.1 P35609 ACTN2_HUMAN actinin, alpha 2 768 EF-hand 1. focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3) 86 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) GCCAACAGAGGAAGAATGGCC 0.433000 40 56 0 0 0.000680045 0 0 HGF 3082 broad.mit.edu 37 7 81392041 81392041 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr7:81392041C>T ENST00000222390.5 - 2 462 c.236G>A c.(235-237)gGa>gAa p.G79E HGF_ENST00000354224.6_Missense_Mutation_p.G79E|HGF_ENST00000444829.2_Missense_Mutation_p.G79E|HGF_ENST00000453018.1_5'UTR|HGF_ENST00000423064.2_Missense_Mutation_p.G79E|HGF_ENST00000457544.2_Missense_Mutation_p.G79E|HGF_ENST00000453411.1_Missense_Mutation_p.G79E NM_000601.4 NP_000592.3 P14210 HGF_HUMAN hepatocyte growth factor (hepapoietin A; scatter factor) 79 PAN. epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 75 GAATGGAAGTCCTTTATTCCT 0.323000 23 111 0 0 0.000878237 0 0 KCTD19 146212 broad.mit.edu 37 16 67327935 67327935 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr16:67327935C>T ENST00000304372.5 - 12 1785 c.1730G>A c.(1729-1731)cGa>cAa p.R577Q NM_001100915.1 NP_001094385.1 Q17RG1 KCD19_HUMAN potassium channel tetramerization domain containing 19 577 voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3) 23 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906) CTTGGCATTTCGGCATAGGGA 0.582000 59 104 0 0 0.000781405 0 0 PARD3 56288 broad.mit.edu 37 10 34400331 34400331 + Silent SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr10:34400331G>A ENST00000374789.3 - 25 4162 c.3837C>T c.(3835-3837)gtC>gtT p.V1279V PARD3_ENST00000350537.4_Silent_p.V1233V|PARD3_ENST00000545693.1_Silent_p.V1263V|PARD3_ENST00000374788.3_Silent_p.V1276V|PARD3_ENST00000545260.1_Silent_p.V1189V|PARD3_ENST00000374790.3_Silent_p.V1219V|PARD3_ENST00000374794.3_Silent_p.V1167V|PARD3_ENST00000346874.4_Silent_p.V1242V NM_019619.3 NP_062565.2 Q8TEW0 PARD3_HUMAN par-3 family cell polarity regulator 1279 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) TTTCCAGCATGACCCTGGCGT 0.592000 14 29 0 0 0.000566183 0 0 TPTE2P6 374491 broad.mit.edu 37 13 25155795 25155795 + RNA SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr13:25155795C>T ENST00000453498.1 + 0 411 cttttcttttctaggaaGAAC 0.318000 6 11 0 0 0.00116845 0 0 FBXL7 23194 broad.mit.edu 37 5 15928108 15928108 + Silent SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr5:15928108C>T ENST00000504595.1 + 3 718 c.237C>T c.(235-237)tcC>tcT p.S79S FBXL7_ENST00000510662.1_Silent_p.S32S|FBXL7_ENST00000329673.7_Silent_p.S67S NM_001278317.1|NM_012304.3 NP_001265246.1|NP_036436.1 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 79 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 CCTCGTCCTCCATCACCGGGG 0.657000 13 11 0 0 0.00185496 0 0 OR6S1 341799 broad.mit.edu 37 14 21109838 21109838 + Missense_Mutation SNP C C A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr14:21109838C>A ENST00000320704.3 - 1 12 c.13G>T c.(13-15)Ggg>Tgg p.G5W NM_001001968.1 NP_001001968.1 Q8NH40 OR6S1_HUMAN olfactory receptor, family 6, subfamily S, member 1 5 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 all_cancers(95;0.00304) Epithelial(56;1.23e-06)|all cancers(55;1.01e-05) GBM - Glioblastoma multiforme(265;0.0135) CTGTGGTTCCCATCAGGACTC 0.438000 5 70 0.00198382 0.00948867 0.00198382 1 0 PTPRO 5800 broad.mit.edu 37 12 15661550 15661550 + Missense_Mutation SNP A A C TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr12:15661550A>C ENST00000281171.4 + 7 1643 c.1313A>C c.(1312-1314)cAc>cCc p.H438P PTPRO_ENST00000543886.1_Missense_Mutation_p.H438P|PTPRO_ENST00000348962.2_Missense_Mutation_p.H438P NM_030667.2 NP_109592.1 Q16827 PTPRO_HUMAN protein tyrosine phosphatase, receptor type, O 438 Fibronectin type-III 5. integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1) 74 Hepatocellular(102;0.244) AAGCCGCAGCACGTGAGTGTC 0.502000 14 25 0 0 0.000422831 0 0 MUC16 94025 broad.mit.edu 37 19 9047932 9047932 + Silent SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr19:9047932C>T ENST00000397910.4 - 5 33902 c.33699G>A c.(33697-33699)gaG>gaA p.E11233E NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 11235 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 AGTCTATGGTCTCTGGTTGAC 0.483000 10 20 0 0 0.000442599 0 0 PAPPA2 60676 broad.mit.edu 37 1 176758969 176758969 + Silent SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:176758969G>A ENST00000367662.3 + 18 5904 c.4740G>A c.(4738-4740)ctG>ctA p.L1580L NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1580 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 TACAATGCCTGGAAGGTGGAA 0.448000 18 7 0 0 0.000566183 0 0 BLK 640 broad.mit.edu 37 8 11412309 11412309 + Missense_Mutation SNP A A G TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr8:11412309A>G ENST00000259089.4 + 7 1122 c.530A>G c.(529-531)tAt>tGt p.Y177C BLK_ENST00000529894.1_Missense_Mutation_p.Y106C NM_001715.2 NP_001706.2 P51451 BLK_HUMAN B lymphoid tyrosine kinase 177 SH2. intracellular protein kinase cascade|positive regulation of insulin secretion ATP binding|non-membrane spanning protein tyrosine kinase activity endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1) 27 STAD - Stomach adenocarcinoma(15;0.00391) COAD - Colon adenocarcinoma(149;0.207) ATCAAGCACTATAAGATCCGC 0.567000 20 43 0 0 0.00278032 0 0 SLC30A10 55532 broad.mit.edu 37 1 220089128 220089128 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:220089128C>T ENST00000366926.3 - 4 1282 c.1121G>A c.(1120-1122)gGa>gAa p.G374E SLC30A10_ENST00000484079.1_5'UTR|SLC30A10_ENST00000536446.1_Missense_Mutation_p.G129E NM_018713.2 NP_061183.2 Q6XR72 ZNT10_HUMAN solute carrier family 30, member 10 374 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) ATTGTGGATTCCCGCATGGTG 0.468000 71 81 0 0 0.000781405 0 0 CYLC1 1538 broad.mit.edu 37 X 83128074 83128074 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chrX:83128074G>A ENST00000329312.4 + 4 395 c.358G>A c.(358-360)Gat>Aat p.D120N NM_021118.1 NP_066941.1 P35663 CYLC1_HUMAN cylicin, basic protein of sperm head cytoskeleton 1 120 cell differentiation|multicellular organismal development|spermatogenesis acrosomal matrix|cytoskeletal calyx structural molecule activity NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 58 AAAGTCCAAAGATGAAAAAGG 0.368000 15 11 0 0 0.00244969 0 0 XIST 7503 broad.mit.edu 37 X 73072212 73072212 + RNA SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chrX:73072212G>A ENST00000429829.1 - 0 376 NR_001564.2 CCGCAGCCCCGATGGGCAAAA 0.403000 6 13 0 0 0.00116845 0 0 CDH16 1014 broad.mit.edu 37 16 66946411 66946411 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr16:66946411G>A ENST00000299752.4 - 11 1548 c.1355C>T c.(1354-1356)tCc>tTc p.S452F CDH16_ENST00000570262.1_Missense_Mutation_p.S372F|CDH16_ENST00000565796.1_Missense_Mutation_p.S452F|CDH16_ENST00000568632.1_Missense_Mutation_p.S355F|CDH16_ENST00000394055.3_Missense_Mutation_p.S452F NM_001204744.1|NM_001204745.1|NM_004062.3 NP_001191673.1|NP_001191674.1|NP_004053.1 O75309 CAD16_HUMAN cadherin 16, KSP-cadherin 452 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) GCTTACCTGGGAAGTGATGAA 0.577000 11 42 0 0 0.000673444 0 0 GTF3C4 9329 broad.mit.edu 37 9 135553441 135553441 + Silent SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr9:135553441C>T ENST00000372146.4 + 2 999 c.435C>T c.(433-435)ttC>ttT p.F145F GTF3C4_ENST00000483873.2_Intron NM_012204.2 NP_036336.2 Q9UKN8 TF3C4_HUMAN general transcription factor IIIC, polypeptide 4, 90kDa 145 transcription initiation from RNA polymerase III promoter transcription factor TFIIIC complex DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1) 20 OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05) GTCAGACTTTCATGTTGGATA 0.483000 25 73 0 0 0.000720815 0 0 DNAH8 1769 broad.mit.edu 37 6 38875794 38875794 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr6:38875794G>A ENST00000359357.3 + 62 9014 c.8760G>A c.(8758-8760)atG>atA p.M2920I DNAH8_ENST00000449981.2_Missense_Mutation_p.M3137I|DNAH8_ENST00000441566.1_Missense_Mutation_p.M2884I dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 TTTCAGTGATGAAGAGGGAGC 0.398000 23 63 0 0 0.00047179 0 0 FNDC7 163479 broad.mit.edu 37 1 109271474 109271474 + Silent SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:109271474G>A ENST00000370017.3 + 8 1867 c.1590G>A c.(1588-1590)cgG>cgA p.R530R FNDC7_ENST00000271311.2_Silent_p.R531R NM_001144937.1 NP_001138409.1 Q5VTL7 FNDC7_HUMAN fibronectin type III domain containing 7 531 Fibronectin type-III 6. extracellular region breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1) 20 all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728) Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244) AGGCAGGACGGAGCCTGCCCA 0.562000 14 36 0 0 0.000422831 0 0 COL11A1 1301 broad.mit.edu 37 1 103461558 103461558 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:103461558G>A ENST00000358392.2 - 27 2635 c.2318C>T c.(2317-2319)cCc>cTc p.P773L COL11A1_ENST00000512756.1_Missense_Mutation_p.P645L|COL11A1_ENST00000370096.3_Missense_Mutation_p.P761L|COL11A1_ENST00000353414.4_Missense_Mutation_p.P722L NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 761 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) TACTCCCCGGGGGCCCGGGTA 0.378000 31 63 0 0 0.00058488 0 0 DSP 1832 broad.mit.edu 37 6 7583542 7583542 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr6:7583542G>A ENST00000379802.3 + 24 6388 c.6047G>A c.(6046-6048)gGa>gAa p.G2016E DSP_ENST00000418664.2_Missense_Mutation_p.G1417E NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 2016 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) CGGGGTGCAGGATCTATCGCT 0.453000 18 51 0 0 0.000566183 0 0 NAV2 89797 broad.mit.edu 37 11 19955287 19955287 + Silent SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr11:19955287G>A ENST00000396085.1 + 7 1858 c.1497G>A c.(1495-1497)gaG>gaA p.E499E NAV2_ENST00000360655.4_Silent_p.E435E|NAV2_ENST00000540292.1_Silent_p.E453E|NAV2_ENST00000396087.3_Silent_p.E522E|NAV2_ENST00000527559.2_Silent_p.E451E|NAV2_ENST00000349880.4_Silent_p.E499E NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 522 nucleus ATP binding|helicase activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 aggataaggagaaaagcaagg 0.532000 7 41 0 0 0.00198382 0 0 LRRC17 10234 broad.mit.edu 37 7 102579980 102579980 + Missense_Mutation SNP T T G TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr7:102579980T>G ENST00000249377.4 + 3 1157 c.876T>G c.(874-876)caT>caG p.H292Q FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000379308.3_Intron|FBXL13_ENST00000313221.4_Intron|LRRC17_ENST00000485478.1_3'UTR|LRRC17_ENST00000339431.4_Missense_Mutation_p.H292Q|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000436908.1_Intron|FBXL13_ENST00000393772.2_Intron NM_005824.2 NP_005815.2 Q8N6Y2 LRC17_HUMAN leucine rich repeat containing 17 292 bone marrow development|negative regulation of osteoclast differentiation|ossification extracellular space NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 17 AAGATGTTCATGAGCTGAAGA 0.403000 34 146 0 0 0.000814825 0 0 RPRD2 23248 broad.mit.edu 37 1 150430042 150430042 + Silent SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:150430042C>T ENST00000401000.4 + 7 1136 c.1071C>T c.(1069-1071)atC>atT p.I357I RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369068.4_Silent_p.I383I|RPRD2_ENST00000539519.1_Silent_p.I357I Q5VT52 RPRD2_HUMAN regulation of nuclear pre-mRNA domain containing 2 383 protein binding central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 GGTCAAAAATCATTGGTATGT 0.393000 55 187 0 0 0.000781405 0 0 TP53 7157 broad.mit.edu 37 17 7578263 7578263 + Nonsense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr17:7578263G>A ENST00000420246.2 - 6 718 c.586C>T c.(586-588)Cga>Tga p.R196* TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R196*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.R196* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 196 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CCTTCCACTCGGATAAGATGC 0.552000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 8 20 0 0 0.000442599 0 0 SRRM1 10250 broad.mit.edu 37 1 24996657 24996657 + Silent SNP C C A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:24996657C>A ENST00000323848.9 + 15 2566 c.2251C>A c.(2251-2253)Cga>Aga p.R751R SRRM1_ENST00000374389.4_Silent_p.R760R|SRRM1_ENST00000447431.2_Silent_p.R763R|SRRM1_ENST00000479034.1_3'UTR NM_005839.3 NP_005830.2 Q8IYB3 SRRM1_HUMAN serine/arginine repetitive matrix 1 751 Pro-rich.|Ser-rich. mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck DNA binding|protein binding|RNA binding breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2) 36 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138) CTCATCCTCCCGATCTGTCTC 0.532000 6 142 0.00198382 0.00948867 0.00198382 1 0 TLE6 79816 broad.mit.edu 37 19 2987153 2987153 + Nonsense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr19:2987153G>A ENST00000246112.4 + 7 659 c.458G>A c.(457-459)tGg>tAg p.W153* TLE6_ENST00000452088.1_Nonsense_Mutation_p.W30*|TLE6_ENST00000478073.2_3'UTR NM_001143986.1 NP_001137458.1 Q9H808 TLE6_HUMAN transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila) 30 regulation of transcription, DNA-dependent nucleus breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1) 10 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AAGGAGCCTTGGTTTTGGCAC 0.602000 36 48 0 0 0.00222228 0 0 CENPI 2491 broad.mit.edu 37 X 100375738 100375738 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chrX:100375738C>T ENST00000372927.1 + 7 929 c.652C>T c.(652-654)Cgt>Tgt p.R218C CENPI_ENST00000218507.5_Missense_Mutation_p.R218C|CENPI_ENST00000372926.1_Missense_Mutation_p.R218C|CENPI_ENST00000423383.1_Missense_Mutation_p.R218C NM_006733.2 NP_006724.2 Q92674 CENPI_HUMAN centromere protein I 218 CenH3-containing nucleosome assembly at centromere|mitotic prometaphase cytosol|kinetochore|nucleoplasm protein binding breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2) 30 CAAACCATTTCGTGTGAGAAA 0.388000 12 89 0 0 0.000422831 0 0 CBFA2T3 863 broad.mit.edu 37 16 88967966 88967966 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr16:88967966G>A ENST00000268679.4 - 2 646 c.250C>T c.(250-252)Ccg>Tcg p.P84S CBFA2T3_ENST00000360302.2_Missense_Mutation_p.P23S|CBFA2T3_ENST00000448839.1_Intron|CBFA2T3_ENST00000436887.2_Missense_Mutation_p.P84S|CBFA2T3_ENST00000327483.5_Missense_Mutation_p.P23S NM_005187.5 NP_005178.4 O75081 MTG16_HUMAN core-binding factor, runt domain, alpha subunit 2; translocated to, 3 84 Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus (By similarity).|Pro-rich.|Required for nucleolar targeting (in isoform 1). cell proliferation|granulocyte differentiation Golgi membrane|nucleolus|nucleoplasm protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 17 BRCA - Breast invasive adenocarcinoma(80;0.0275) GCGGCAGGCGGTGGGGGCGGC 0.697000 T RUNX1 AML 10 26 0 0 0.000978159 0 0 EFCAB3 146779 broad.mit.edu 37 17 60469297 60469297 + Missense_Mutation SNP A A C TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr17:60469297A>C ENST00000450662.2 + 6 493 c.422A>C c.(421-423)tAt>tCt p.Y141S EFCAB3_ENST00000305286.3_Missense_Mutation_p.Y89S NM_001144933.1 NP_001138405.1 Q8N7B9 EFCB3_HUMAN EF-hand calcium binding domain 3 89 calcium ion binding cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3) 17 BRCA - Breast invasive adenocarcinoma(2;2.27e-11) CATGATGTCTATAATGAATTG 0.348000 44 84 0 0 0.000781405 0 0 PRUNE2 158471 broad.mit.edu 37 9 79325833 79325833 + Missense_Mutation SNP C C G TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr9:79325833C>G ENST00000428286.1 - 8 1480 c.280G>C c.(280-282)Gga>Cga p.G94R PRUNE2_ENST00000376718.3_Missense_Mutation_p.G453R Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 453 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 GCACCTTCTCCCACGGGGCTG 0.597000 13 10 0 0 0.000308642 0 0 SLC35F5 80255 broad.mit.edu 37 2 114486999 114486999 + Silent SNP A A G TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr2:114486999A>G ENST00000245680.2 - 11 1482 c.1069T>C c.(1069-1071)Ttg>Ctg p.L357L SLC35F5_ENST00000470204.2_5'UTR NM_025181.2 NP_079457.2 Q8WV83 S35F5_HUMAN solute carrier family 35, member F5 357 transport integral to membrane endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1) 20 GGAATATCCAACTTGTCTTCT 0.353000 6 37 0 0 0.00116845 0 0 NAALAD2 10003 broad.mit.edu 37 11 89911136 89911136 + Missense_Mutation SNP G G A rs150474449 TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr11:89911136G>A ENST00000534061.1 + 16 1939 c.1709G>A c.(1708-1710)cGa>cAa p.R570Q NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000321955.4_Missense_Mutation_p.R537Q NM_005467.3 NP_005458.1 Q9Y3Q0 NALD2_HUMAN N-acetylated alpha-linked acidic dipeptidase 2 570 NAALADase. 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) GCTCAATTACGAGGAGCACTG 0.348000 12 36 0 0 0.00136819 0 0 RPS6KA2 6196 broad.mit.edu 37 6 166831811 166831811 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr6:166831811C>T ENST00000510118.1 - 21 2255 c.1915G>A c.(1915-1917)Ggg>Agg p.G639R RPS6KA2_ENST00000405189.3_Missense_Mutation_p.G525R|RPS6KA2_ENST00000509742.1_5'UTR|RPS6KA2_ENST00000481261.2_Missense_Mutation_p.G525R|RPS6KA2_ENST00000503859.1_Missense_Mutation_p.G622R|RPS6KA2_ENST00000265678.4_Missense_Mutation_p.G614R Q15349 KS6A2_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 2 614 Protein kinase 2. axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 45 Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105) OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05) TCGTCTGGCCCATTTGCAAAA 0.443000 18 52 0 0 0.000958276 0 0 IP6K2 51447 broad.mit.edu 37 3 48732679 48732679 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr3:48732679C>T ENST00000431721.2 - 3 448 c.211G>A c.(211-213)Ggc>Agc p.G71S IP6K2_ENST00000443964.1_Missense_Mutation_p.G75S|IP6K2_ENST00000417896.1_Missense_Mutation_p.G16S|IP6K2_ENST00000446860.1_Missense_Mutation_p.G74S|IP6K2_ENST00000436134.1_5'UTR|IP6K2_ENST00000449610.1_Missense_Mutation_p.G16S|IP6K2_ENST00000450045.1_Missense_Mutation_p.G70S|IP6K2_ENST00000340879.4_Missense_Mutation_p.G16S|IP6K2_ENST00000432678.2_Missense_Mutation_p.G16S|IP6K2_ENST00000453202.1_Missense_Mutation_p.G16S|IP6K2_ENST00000413298.1_Missense_Mutation_p.G16S|IP6K2_ENST00000328631.5_Missense_Mutation_p.G16S NM_001190316.1 NP_001177245.1 Q9UHH9 IP6K2_HUMAN inositol hexakisphosphate kinase 2 16 negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway intermediate filament cytoskeleton|nucleus ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1) 15 AGAAGGACGCCTTTGGCGCGG 0.662000 13 22 0 0 0.00185496 0 0 SLC6A13 6540 broad.mit.edu 37 12 344336 344336 + Nonsense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr12:344336G>A ENST00000343164.4 - 7 803 c.751C>T c.(751-753)Cga>Tga p.R251* SLC6A13_ENST00000445055.2_Nonsense_Mutation_p.R159* NM_016615.4 NP_057699.2 Q9NSD5 S6A13_HUMAN solute carrier family 6 (neurotransmitter transporter), member 13 251 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1) 28 all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239) GTCACCCCTCGAATTAACAGG 0.537000 14 21 0 0 0.00185496 0 0 TUBGCP2 10844 broad.mit.edu 37 10 135099033 135099033 + Silent SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr10:135099033G>A ENST00000368563.2 - 12 2178 c.1822C>T c.(1822-1824)Ctg>Ttg p.L608L TUBGCP2_ENST00000368562.1_Silent_p.L201L|TUBGCP2_ENST00000543663.1_Silent_p.L636L|TUBGCP2_ENST00000417178.2_Silent_p.L478L|TUBGCP2_ENST00000252936.3_Silent_p.L608L NM_001256617.1|NM_006659.3 NP_001243546.1|NP_006650.1 Q9BSJ2 GCP2_HUMAN tubulin, gamma complex associated protein 2 608 G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly centrosome|cytoplasmic microtubule|cytosol|spindle pole protein binding breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 35 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05) CTCAGCGCCAGCTCCGTGGGG 0.637000 6 19 0 0 0.00116845 0 0 GANC 2595 broad.mit.edu 37 15 42619626 42619626 + Missense_Mutation SNP T T A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr15:42619626T>A ENST00000318010.8 + 13 1726 c.1486T>A c.(1486-1488)Ttc>Atc p.F496I NM_198141.2 NP_937784.2 Q8TET4 GANC_HUMAN glucosidase, alpha; neutral C 496 carbohydrate metabolic process carbohydrate binding|maltose alpha-glucosidase activity breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153) GBM - Glioblastoma multiforme(94;1.06e-06) TCTTTTTGCTTTCCCTGTTTA 0.383000 46 127 0 0 0.000781405 0 0 INSL6 11172 broad.mit.edu 37 9 5164194 5164194 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr9:5164194C>T ENST00000381641.3 - 2 426 c.361G>A c.(361-363)Gga>Aga p.G121R INSL6_ENST00000510407.1_5'UTR NM_007179.2 NP_009110.2 Q9Y581 INSL6_HUMAN insulin-like 6 121 extracellular region hormone activity breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(2) 15 all_hematologic(13;0.137) Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145) GGTGAATATCCCTTTTTATCC 0.348000 78 29 0 0 0.000781405 0 0 KCNA6 3742 broad.mit.edu 37 12 4920466 4920466 + Missense_Mutation SNP T T G TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr12:4920466T>G ENST00000433855.1 + 1 2125 c.1259T>G c.(1258-1260)aTg>aGg p.M420R KCNA6_ENST00000280684.3_Missense_Mutation_p.M420R NM_002235.3 NP_002226.1 P17658 KCNA6_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 6 420 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5) 49 GTGGTTACAATGACCACGGTA 0.582000 HNSCC(72;0.22) 35 67 0 0 0.000814825 0 0 NEK4 6787 broad.mit.edu 37 3 52780790 52780790 + Missense_Mutation SNP T T C TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr3:52780790T>C ENST00000233027.5 - 9 1839 c.1637A>G c.(1636-1638)cAc>cGc p.H546R NEK4_ENST00000535191.1_Missense_Mutation_p.H457R|NEK4_ENST00000383721.4_Missense_Mutation_p.H500R NM_001193533.1|NM_003157.4 NP_001180462.1|NP_003148.2 P51957 NEK4_HUMAN NIMA-related kinase 4 546 cell division|mitosis nucleus ATP binding|metal ion binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10) 26 BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513) TTCCCCTCTGTGCTCAGTCTG 0.483000 24 38 0 0 0.00106085 0 0 F2 2147 broad.mit.edu 37 11 46750326 46750326 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr11:46750326C>T ENST00000311907.5 + 11 1467 c.1411C>T c.(1411-1413)Cct>Tct p.P471S F2_ENST00000530231.1_Intron NM_000506.3 NP_000497.1 P00734 THRB_HUMAN coagulation factor II (thrombin) 471 Peptidase S1. activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity p.P471S(1) endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1) 27 all_lung(304;0.000414)|Lung NSC(402;0.0011) BRCA - Breast invasive adenocarcinoma(625;0.146) Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898) GCTGAAGAAGCCTGTTGCCTT 0.547000 12 60 0 0 0.00185496 0 0 BAZ2B 29994 broad.mit.edu 37 2 160206398 160206398 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr2:160206398G>A ENST00000392783.2 - 28 5179 c.4684C>T c.(4684-4686)Ctt>Ttt p.L1562F BAZ2B_ENST00000392782.1_Missense_Mutation_p.L1526F|BAZ2B_ENST00000355831.2_Missense_Mutation_p.L1528F|BAZ2B_ENST00000343439.5_Missense_Mutation_p.L1462F NM_013450.2 NP_038478.2 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 1562 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding p.L1562I(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1) 82 CGTGGCAAAAGACTAAACCAT 0.448000 19 87 0 0 0.000958276 0 0 AMPD3 272 broad.mit.edu 37 11 10500204 10500204 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr11:10500204C>T ENST00000396554.3 + 3 721 c.380C>T c.(379-381)tCc>tTc p.S127F AMPD3_ENST00000444303.2_Intron NM_000480.2 NP_000471.1 Q01432 AMPD3_HUMAN adenosine monophosphate deaminase 3 118 AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1) 25 all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291) GGAGCCACTTCCCTGCCCACG 0.617000 33 51 0 0 0.000814825 0 0 POTEE 445582 broad.mit.edu 37 2 131976431 131976431 + Silent SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr2:131976431C>T ENST00000356920.5 + 1 550 c.456C>T c.(454-456)gtC>gtT p.V152V PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_Silent_p.V152V NM_001083538.1 NP_001077007.1 Q6S8J3 POTEE_HUMAN POTE ankyrin domain family, member E 152 ATP binding GGGGTAAAGTCCCCAGAAAGG 0.572000 22 89 0 0 0.00178596 0 0 TRPC4 7223 broad.mit.edu 37 13 38225576 38225576 + Nonsense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr13:38225576C>T ENST00000379705.3 - 8 2762 c.1905G>A c.(1903-1905)tgG>tgA p.W635* TRPC4_ENST00000358477.2_Nonsense_Mutation_p.W635*|TRPC4_ENST00000355779.2_Nonsense_Mutation_p.W635*|TRPC4_ENST00000379679.1_Nonsense_Mutation_p.W462*|TRPC4_ENST00000447043.1_Nonsense_Mutation_p.W635*|TRPC4_ENST00000379681.3_Nonsense_Mutation_p.W635*|TRPC4_ENST00000379673.2_Intron|TRPC4_ENST00000338947.5_Nonsense_Mutation_p.W462*|TRPC4_ENST00000426868.2_3'UTR Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, subfamily C, member 4 635 Binds to ITPR1, ITPR2 and ITPR3. axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) GTGCAAATTTCCATTCTATAT 0.428000 11 27 0 0 0.000978159 0 0 VPS18 57617 broad.mit.edu 37 15 41192378 41192378 + Silent SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr15:41192378G>A ENST00000220509.5 + 4 1701 c.1362G>A c.(1360-1362)gaG>gaA p.E454E VPS18_ENST00000558474.1_Intron NM_020857.2 NP_065908.1 Q9P253 VPS18_HUMAN vacuolar protein sorting 18 homolog (S. cerevisiae) 454 endosome organization|lysosome organization|protein transport HOPS complex|late endosome membrane|lysosomal membrane metal ion binding|protein binding autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 28 all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164) GCTACTTTGAGGAGATTGCCC 0.622000 20 58 0 0 0.000958276 0 0 KCNJ16 3773 broad.mit.edu 37 17 68129132 68129132 + Silent SNP C C A rs142625269 TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr17:68129132C>A ENST00000585558.1 + 4 1397 c.1009C>A c.(1009-1011)Cga>Aga p.R337R KCNJ16_ENST00000283936.1_Silent_p.R302R|KCNJ16_ENST00000586462.1_Silent_p.R341R|KCNJ16_ENST00000589377.1_Silent_p.R302R|KCNJ16_ENST00000392670.1_Silent_p.R302R|KCNJ16_ENST00000392671.1_Silent_p.R302R Q9NPI9 IRK16_HUMAN potassium inwardly-rectifying channel, subfamily J, member 16 302 synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 32 Breast(10;2.96e-09) CTATGTTCCCCGAGAAATTCT 0.393000 5 96 0.00198382 0.00948867 0.00198382 1 0 CFP 5199 broad.mit.edu 37 X 47487668 47487668 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chrX:47487668C>T ENST00000247153.3 - 4 477 c.236G>A c.(235-237)cGa>cAa p.R79Q CFP_ENST00000480317.1_5'UTR|CFP_ENST00000396992.3_Missense_Mutation_p.R79Q|CFP_ENST00000377005.2_Missense_Mutation_p.R79Q NM_002621.2 NP_002612.1 P27918 PROP_HUMAN complement factor properdin 79 TSP type-1 1. complement activation, alternative pathway|defense response to bacterium extracellular space breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1) 18 CAGGGACCATCGTGGGGACCT 0.612000 5 5 0 0 0.00116845 0 0 C7orf60 154743 broad.mit.edu 37 7 112462292 112462292 + Missense_Mutation SNP A A G TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr7:112462292A>G ENST00000297145.4 - 5 890 c.725T>C c.(724-726)gTt>gCt p.V242A NM_152556.2 NP_689769.2 Q1RMZ1 CG060_HUMAN chromosome 7 open reading frame 60 242 breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1) 17 GAGAGAGAAAACAACCACATG 0.408000 12 18 0 0 0.000978159 0 0 DSP 1832 broad.mit.edu 37 6 7584933 7584933 + Missense_Mutation SNP C C A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr6:7584933C>A ENST00000379802.3 + 24 7779 c.7438C>A c.(7438-7440)Cag>Aag p.Q2480K DSP_ENST00000418664.2_Missense_Mutation_p.Q1881K NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 2480 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) AATGTCTGTTCAGGAGGCCTA 0.423000 49 83 3.89483e-19 1.9225e-18 0.000781405 1 0 TMEM201 199953 broad.mit.edu 37 1 9657101 9657101 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:9657101C>T ENST00000340305.5 + 3 428 c.419C>T c.(418-420)cCc>cTc p.P140L TMEM201_ENST00000377376.4_Missense_Mutation_p.P140L|TMEM201_ENST00000340381.6_Missense_Mutation_p.P140L NM_001010866.3 NP_001010866.1 Q5SNT2 TM201_HUMAN transmembrane protein 201 140 integral to membrane|nuclear inner membrane lung(3)|upper_aerodigestive_tract(1) 4 all_lung(157;0.222) all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419) GCCTTCGCTCCCCGCGAGGAG 0.672000 16 22 0 0 0.00229938 0 0 VPS39 23339 broad.mit.edu 37 15 42458803 42458803 + Silent SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr15:42458803G>A ENST00000318006.5 - 15 1726 c.1564C>T c.(1564-1566)Ctg>Ttg p.L522L VPS39_ENST00000348544.4_Silent_p.L533L NM_015289.2 NP_056104.2 Q96JC1 VPS39_HUMAN vacuolar protein sorting 39 homolog (S. cerevisiae) 533 protein transport HOPS complex|late endosome membrane|lysosomal membrane small GTPase regulator activity breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;3.05e-06) TGGCCTTTCAGAGGGGAGTTG 0.557000 9 41 0 0 0.000442599 0 0 PRX 57716 broad.mit.edu 37 19 40902141 40902141 + Silent SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr19:40902141G>A ENST00000324001.7 - 7 2388 c.2118C>T c.(2116-2118)ctC>ctT p.L706L PRX_ENST00000291825.7_3'UTR NM_181882.2 NP_870998.2 Q9BXM0 PRAX_HUMAN periaxin 706 55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER]. axon ensheathment cytoplasm|nucleus|plasma membrane protein binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9) 47 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) GCACCTCTGGGAGGTGCACAT 0.567000 19 117 0 0 0.00278032 0 0 CERS5 91012 broad.mit.edu 37 12 50524370 50524370 + Silent SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr12:50524370C>T ENST00000317551.6 - 10 1261 c.1137G>A c.(1135-1137)cgG>cgA p.R379R CERS5_ENST00000422340.2_Silent_p.R321R NM_147190.2 NP_671723.1 Q8N5B7 CERS5_HUMAN ceramide synthase 5 379 ceramide biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity GACCATTCACCCGATTGGCAC 0.522000 38 50 0 0 0.00128727 0 0 RECK 8434 broad.mit.edu 37 9 36087828 36087828 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr9:36087828C>T ENST00000377966.3 + 9 1341 c.775C>T c.(775-777)Cct>Tct p.P259S NM_021111.2 NP_066934.1 O95980 RECK_HUMAN reversion-inducing-cysteine-rich protein with kazal motifs 259 5 X Knot repeats. anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 32 LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228) GCCTCAAGATCCTCTTTGGCA 0.483000 20 66 0 0 0.00152264 0 0 PRKCB 5579 broad.mit.edu 37 16 24231416 24231416 + Silent SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr16:24231416G>A ENST00000321728.7 + 17 2173 c.1998G>A c.(1996-1998)gaG>gaA p.E666E PRKCB_ENST00000303531.7_3'UTR NM_212535.2 NP_997700.1 P05771 KPCB_HUMAN protein kinase C, beta 666 AGC-kinase C-terminal. 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) CTAACCCAGAGTTTGTCATTA 0.433000 32 50 0 0 0.00148497 0 0 MALT1 10892 broad.mit.edu 37 18 56390461 56390461 + Silent SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr18:56390461C>T ENST00000348428.3 + 10 1458 c.1200C>T c.(1198-1200)ctC>ctT p.L400L RP11-126O1.4_ENST00000588835.1_RNA|MALT1_ENST00000345724.3_Silent_p.L389L NM_006785.2|NM_173844.1 NP_006776.1|NP_776216.1 Q9UDY8 MALT1_HUMAN mucosa associated lymphoid tissue lymphoma translocation gene 1 400 Caspase-like. activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway CBM complex|cytosol|nucleus|perinuclear region of cytoplasm cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1) 12 AGTTTTTACTCCTTTTAGACA 0.313000 T BIRC3 MALT 13 45 0 0 0.00185496 0 0 PTGER3 5733 broad.mit.edu 37 1 71418690 71418690 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:71418690C>T ENST00000356595.4 - 4 1367 c.1157G>A c.(1156-1158)gGg>gAg p.G386E PTGER3_ENST00000370932.2_Intron|PTGER3_ENST00000460330.1_Intron|PTGER3_ENST00000351052.5_Intron|PTGER3_ENST00000370931.3_Intron|PTGER3_ENST00000414819.1_3'UTR|PTGER3_ENST00000354608.5_Intron NM_198718.1 NP_942011.1 P43115 PE2R3_HUMAN prostaglandin E receptor 3 (subtype EP3) 0 cell death|positive regulation of fever generation|transcription, DNA-dependent integral to plasma membrane|nuclear envelope ligand-dependent nuclear receptor activity|prostaglandin E receptor activity endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 25 Bimatoprost(DB00905) TTGTACTTGCCCACAATGTGc 0.373000 42 98 0 0 0.00195071 0 0 MINK1 50488 broad.mit.edu 37 17 4789256 4789256 + Silent SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr17:4789256C>T ENST00000355280.6 + 8 886 c.690C>T c.(688-690)gcC>gcT p.A230A MINK1_ENST00000347992.7_Silent_p.A230A|MINK1_ENST00000453408.3_Silent_p.A230A NM_001024937.3|NM_015716.4|NM_153827.4 NP_001020108.1|NP_056531.1|NP_722549.2 Q8N4C8 MINK1_HUMAN misshapen-like kinase 1 230 Protein kinase. JNK cascade cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1) 6 CAGAGGGAGCCCCCCGTAAGT 0.567000 8 21 0 0 0.000442599 0 0 PSG8 440533 broad.mit.edu 37 19 43262160 43262160 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr19:43262160G>A ENST00000404209.4 - 3 799 c.703C>T c.(703-705)Ctc>Ttc p.L235F PSG8_ENST00000406636.3_Missense_Mutation_p.L113F|PSG8_ENST00000401467.2_Intron|PSG8_ENST00000306511.4_Missense_Mutation_p.L235F|PSG8_ENST00000600709.1_5'UTR NM_001130167.1 NP_001123639.1 Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 235 extracellular region breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 40 Prostate(69;0.00899) TCACGGAGGAGATTCAGGGTG 0.527000 38 183 0 0 0.00148497 0 0 CPB1 1360 broad.mit.edu 37 3 148577630 148577630 + Nonsense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr3:148577630G>A ENST00000491148.1 + 12 1429 c.1095G>A c.(1093-1095)tgG>tgA p.W365* CPB1_ENST00000282957.4_Nonsense_Mutation_p.W365*|RP11-680B3.2_ENST00000488190.1_RNA|CPB1_ENST00000498639.1_3'UTR P15086 CBPB1_HUMAN carboxypeptidase B1 (tissue) 365 proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 38 LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115) CTGACGACTGGGCTTATGACC 0.448000 24 56 0 0 0.00047179 0 0 NLRP3 114548 broad.mit.edu 37 1 247587607 247587607 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:247587607C>T ENST00000366497.2 + 4 1642 c.862C>T c.(862-864)Cac>Tac p.H288Y NLRP3_ENST00000366496.2_Missense_Mutation_p.H288Y|NLRP3_ENST00000391827.2_Missense_Mutation_p.H288Y|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000336119.3_Missense_Mutation_p.H288Y|NLRP3_ENST00000391828.3_Missense_Mutation_p.H288Y|NLRP3_ENST00000348069.2_Missense_Mutation_p.H288Y NM_001127461.2 NP_001120933.1 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 288 NACHT. detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) CCCACCCATCCACAAGATCGT 0.552000 33 53 0 0 0.00058488 0 0 OR4A16 81327 broad.mit.edu 37 11 55110948 55110948 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr11:55110948C>T ENST00000314721.2 + 1 322 c.272C>T c.(271-273)tCc>tTc p.S91F NM_001005274.1 NP_001005274.1 Q8NH70 O4A16_HUMAN olfactory receptor, family 4, subfamily A, member 16 91 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 51 ATCGCTATTTCCTTGTCAGCT 0.438000 62 94 0 0 0.000781405 0 0 MAGEA4 4103 broad.mit.edu 37 X 151092879 151092879 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chrX:151092879C>T ENST00000370340.3 + 3 1010 c.743C>T c.(742-744)aCc>aTc p.T248I MAGEA4_ENST00000393920.1_Missense_Mutation_p.T248I|MAGEA4_ENST00000370337.4_Missense_Mutation_p.T248I|MAGEA4_ENST00000393921.1_Missense_Mutation_p.T248I|MAGEA4_ENST00000370335.1_Missense_Mutation_p.T248I|MAGEA4_ENST00000276344.2_Missense_Mutation_p.T248I|MAGEA4_ENST00000360243.2_Missense_Mutation_p.T248I P43358 MAGA4_HUMAN melanoma antigen family A, 4 248 MAGE. protein binding breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2) 27 Acute lymphoblastic leukemia(192;6.56e-05) AAACTGCTCACCCAAGATTGG 0.587000 20 76 0 0 0.00121646 0 0 PREX2 80243 broad.mit.edu 37 8 69020350 69020350 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr8:69020350C>T ENST00000288368.4 + 24 2999 c.2722C>T c.(2722-2724)Cgt>Tgt p.R908C NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 908 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 GCAGTTTTCTCGTGTACTGAA 0.393000 7 26 0 0 0.00198382 0 0 FPGT-TNNI3K 100526835 broad.mit.edu 37 1 74701860 74701860 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:74701860G>A ENST00000370895.1 + 4 453 c.418G>A c.(418-420)Gaa>Aaa p.E140K FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.E140K|TNNI3K_ENST00000370891.2_Missense_Mutation_p.E140K|TNNI3K_ENST00000370893.1_Missense_Mutation_p.E140K|FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.E140K|TNNI3K_ENST00000326637.3_Missense_Mutation_p.E39K Q59H18 TNI3K_HUMAN 39 cytoplasm|nucleus ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding GCAGATCAAGGAAAAAGAACT 0.299000 37 77 0 0 0.00128727 0 0 PLCB1 23236 broad.mit.edu 37 20 8717790 8717790 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr20:8717790G>A ENST00000378641.3 + 20 2634 c.2159G>A c.(2158-2160)gGa>gAa p.G720E PLCB1_ENST00000378637.2_Missense_Mutation_p.G720E|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000338037.6_Missense_Mutation_p.G720E NM_182734.1 NP_877398.1 Q9NQ66 PLCB1_HUMAN phospholipase C, beta 1 (phosphoinositide-specific) 720 C2. activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95 ACATCCCAAGGAAATGCTGTG 0.383000 18 56 0 0 0.00121646 0 0 NTNG1 22854 broad.mit.edu 37 1 107937858 107937858 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:107937858C>T ENST00000370067.1 + 4 1597 c.970C>T c.(970-972)Cca>Tca p.P324S NTNG1_ENST00000370066.1_Missense_Mutation_p.P324S|NTNG1_ENST00000370072.3_Missense_Mutation_p.P324S|NTNG1_ENST00000370070.2_Missense_Mutation_p.P324S|NTNG1_ENST00000370068.1_Missense_Mutation_p.P324S|NTNG1_ENST00000370073.2_Missense_Mutation_p.P324S|NTNG1_ENST00000370071.2_Missense_Mutation_p.P324S|NTNG1_ENST00000370065.1_Missense_Mutation_p.P324S|NTNG1_ENST00000370074.4_Missense_Mutation_p.P324S|NTNG1_ENST00000370061.3_Missense_Mutation_p.P324S|NTNG1_ENST00000542803.1_Missense_Mutation_p.P324S Q9Y2I2 NTNG1_HUMAN netrin G1 324 Laminin EGF-like 1. axonogenesis anchored to plasma membrane protein binding p.P324A(3) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1) 37 all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243) Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245) CACTACAGGTCCAGACTGTGG 0.493000 48 106 0 0 0.000781405 0 0 SPG11 80208 broad.mit.edu 37 15 44890914 44890914 + Silent SNP T T C TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr15:44890914T>C ENST00000261866.7 - 22 3823 c.3807A>G c.(3805-3807)agA>agG p.R1269R SPG11_ENST00000427534.2_Silent_p.R1269R|SPG11_ENST00000535302.2_Silent_p.R1269R|SPG11_ENST00000558319.1_Silent_p.R1269R NM_025137.3 NP_079413.3 Q96JI7 SPTCS_HUMAN spastic paraplegia 11 (autosomal recessive) 1269 cell death cytosol|integral to membrane|nucleus protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 72 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) TCATATCAACTCTGAGCTTGA 0.418000 20 58 0 0 0.00188189 0 0 SRGAP3 9901 broad.mit.edu 37 3 9166422 9166422 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr3:9166422C>T ENST00000383836.3 - 2 674 c.247G>A c.(247-249)Gag>Aag p.E83K SRGAP3_ENST00000360413.3_Missense_Mutation_p.E83K|SRGAP3_ENST00000433332.3_5'UTR NM_014850.3 NP_055665.1 O43295 SRGP2_HUMAN SLIT-ROBO Rho GTPase activating protein 3 83 FCH. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding SRGAP3/RAF1(6) breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 OV - Ovarian serous cystadenocarcinoma(96;0.0563) AACTGGTGCTCCCGGGAGCTG 0.592000 T RAF1 pilocytic astrocytoma 23 41 0 0 0.00047179 0 0 SPRYD3 84926 broad.mit.edu 37 12 53470996 53470996 + Silent SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr12:53470996G>A ENST00000301463.4 - 2 159 c.73C>T c.(73-75)Ctg>Ttg p.L25L SPRYD3_ENST00000547837.1_Silent_p.L62L NM_032840.2 NP_116229.1 Q8NCJ5 SPRY3_HUMAN SPRY domain containing 3 25 B30.2/SPRY. central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 CGCCAATTCAGAAACCGGTAG 0.507000 11 30 0 0 0.000978159 0 0 ZNF280C 55609 broad.mit.edu 37 X 129349848 129349848 + Silent SNP A A G TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chrX:129349848A>G ENST00000370978.4 - 14 1908 c.1755T>C c.(1753-1755)gcT>gcC p.A585A NM_017666.4 NP_060136.1 Q8ND82 Z280C_HUMAN zinc finger protein 280C 585 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 26 CTTTGGACTTAGCTATACGTC 0.373000 38 195 0 0 0.00128727 0 0 CYP2C9 1559 broad.mit.edu 37 10 96741125 96741125 + Nonsense_Mutation SNP A A T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr10:96741125A>T ENST00000260682.6 + 7 1159 c.1147A>T c.(1147-1149)Aag>Tag p.K383* NM_000771.3 NP_000762.2 P11712 CP2C9_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 9 383 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) TCTCATTCCCAAGGTAAGTTT 0.458000 16 43 0 0 0.000422831 0 0 DCLRE1B 64858 broad.mit.edu 37 1 114454751 114454751 + Nonsense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:114454751C>T ENST00000369563.3 + 4 1983 c.1537C>T c.(1537-1539)Cag>Tag p.Q513* DCLRE1B_ENST00000466480.1_Intron NM_022836.3 NP_073747.1 Q9H816 DCR1B_HUMAN DNA cross-link repair 1B 513 cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation centrosome|chromosome, telomeric region|nucleus 5'-3' exonuclease activity|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1) 18 Lung SC(450;0.184) all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GAACTTTTTCCAGGCAGGGTA 0.483000 Other identified genes with known or suspected DNA repair function 41 119 0 0 0.000781405 0 0 CPAMD8 27151 broad.mit.edu 37 19 17085952 17085952 + Silent SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr19:17085952G>A ENST00000443236.1 - 17 2197 c.2166C>T c.(2164-2166)ttC>ttT p.F722F CPAMD8_ENST00000388925.4_Silent_p.F461F NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 675 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 AAGGCCACGGGAAGACAGAGG 0.567000 10 19 0 0 0.000673444 0 0 TRMT5 57570 broad.mit.edu 37 14 61446310 61446310 + Silent SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr14:61446310C>T ENST00000261249.6 - 2 690 c.306G>A c.(304-306)agG>agA p.R102R RP11-193F5.1_ENST00000553946.1_RNA NM_020810.2 NP_065861.2 Q32P41 TRMT5_HUMAN tRNA methyltransferase 5 102 cytoplasm tRNA (guanine-N1-)-methyltransferase activity NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(1) 11 OV - Ovarian serous cystadenocarcinoma(108;0.0873) CTATTTCTTTCCTCACTTTAA 0.408000 36 68 0 0 0.000692331 0 0 MGAM 8972 broad.mit.edu 37 7 141764249 141764249 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr7:141764249C>T ENST00000475668.2 + 37 4465 c.4411C>T c.(4411-4413)Cca>Tca p.P1471S MGAM_ENST00000549489.2_Missense_Mutation_p.P1471S O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1471 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) GCAGATCCTCCCAGACGGCTC 0.582000 10 6 0 0 0.000442599 0 0 NTF3 4908 broad.mit.edu 37 12 5603469 5603469 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr12:5603469C>T ENST00000423158.3 + 2 340 c.128C>T c.(127-129)tCg>tTg p.S43L NTF3_ENST00000331010.6_Missense_Mutation_p.S30L|NTF3_ENST00000535299.1_Intron NM_001102654.1 NP_001096124.1 P20783 NTF3_HUMAN neurotrophin 3 30 signal transduction extracellular region growth factor activity|neurotrophin receptor binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1) 22 CCAGAAGACTCGCTCAATTCC 0.428000 28 70 0 0 0.00127121 0 0 CDH18 1016 broad.mit.edu 37 5 19520879 19520879 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr5:19520879C>T ENST00000507958.1 - 12 2389 c.1399G>A c.(1399-1401)Gat>Aat p.D467N CDH18_ENST00000506372.1_Missense_Mutation_p.D467N|CDH18_ENST00000511273.1_Missense_Mutation_p.D467N|CDH18_ENST00000274170.4_Missense_Mutation_p.D467N|CDH18_ENST00000502796.1_Missense_Mutation_p.D467N|CDH18_ENST00000382275.1_Missense_Mutation_p.D467N Q13634 CAD18_HUMAN cadherin 18, type 2 467 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) CTCAGCAAATCAGGATTATCT 0.373000 34 47 0 0 0.00285205 0 0 ANKEF1 63926 broad.mit.edu 37 20 10030496 10030496 + Missense_Mutation SNP G G T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr20:10030496G>T ENST00000378380.3 + 6 1608 c.1279G>T c.(1279-1281)Ggg>Tgg p.G427W ANKEF1_ENST00000488991.1_3'UTR|SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000378392.1_Missense_Mutation_p.G427W|SNAP25-AS1_ENST00000603542.1_RNA NM_198798.1 NP_942093.1 ankyrin repeat and EF-hand domain containing 1 AGGAAAGAAAGGGAAATTTGT 0.418000 21 53 7.41877e-09 3.63743e-08 0.00188189 1 0 FREM1 158326 broad.mit.edu 37 9 14804986 14804986 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr9:14804986C>T ENST00000380881.4 - 20 4257 c.3442G>A c.(3442-3444)Gaa>Aaa p.E1148K FREM1_ENST00000422223.2_Missense_Mutation_p.E1147K|FREM1_ENST00000380880.3_Missense_Mutation_p.E1147K Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 1147 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) TCAGGAGCTTCATCATTTGTG 0.363000 25 31 0 0 0.000586117 0 0 THSD7B 80731 broad.mit.edu 37 2 138425350 138425350 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr2:138425350G>A ENST00000409968.1 + 27 4836 c.4658G>A c.(4657-4659)cGa>cAa p.R1553Q THSD7B_ENST00000413152.2_Missense_Mutation_p.R1525Q|THSD7B_ENST00000272643.3_Missense_Mutation_p.R1556Q thrombospondin, type I, domain containing 7B p.R1556Q(1) NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) ACAGATGGCCGAGTAAAAATT 0.378000 5 9 0 0 0.000602214 0 0 SMAD3 4088 broad.mit.edu 37 15 67482846 67482846 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr15:67482846C>T ENST00000327367.4 + 9 1560 c.1250C>T c.(1249-1251)cCa>cTa p.P417L SMAD3_ENST00000439724.3_Missense_Mutation_p.P373L|SMAD3_ENST00000537194.2_Missense_Mutation_p.P222L|SMAD3_ENST00000540846.2_Missense_Mutation_p.P312L NM_005902.3 NP_005893.1 P84022 SMAD3_HUMAN SMAD family member 3 417 MH2. activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing cytosol|nuclear inner membrane|receptor complex beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125) ATGGGCTCCCCAAGCATCCGC 0.547000 15 19 0 0 0.000566183 0 0 TMPRSS11A 339967 broad.mit.edu 37 4 68780325 68780325 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr4:68780325C>T ENST00000508048.1 - 9 1108 c.1073G>A c.(1072-1074)gGa>gAa p.G358E TMPRSS11A_ENST00000334830.7_Missense_Mutation_p.G362E|TMPRSS11A_ENST00000396188.2_Missense_Mutation_p.G359E|RP11-453E17.1_ENST00000500538.2_RNA Q6ZMR5 TM11A_HUMAN transmembrane protease, serine 11A 362 Peptidase S1. cell cycle|proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 29 ATCATAAATTCCTTCCATATA 0.358000 44 68 0 0 0.000781405 0 0 PNMAL1 55228 broad.mit.edu 37 19 46973464 46973464 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr19:46973464C>T ENST00000313683.10 - 2 1134 c.829G>A c.(829-831)Ggt>Agt p.G277S PNMAL1_ENST00000602246.1_Intron|PNMAL1_ENST00000438932.2_Missense_Mutation_p.G277S NM_001103149.1|NM_018215.3 NP_001096619.1|NP_060685.2 Q86V59 PNML1_HUMAN paraneoplastic Ma antigen family-like 1 277 cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 Ovarian(192;0.00965)|all_neural(266;0.0459) OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427) TCAGCATCACCCACCTCAGGA 0.507000 27 105 0 0 0.000720815 0 0 KDR 3791 broad.mit.edu 37 4 55984967 55984967 + Splice_Site SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr4:55984967C>T ENST00000263923.4 - 3 457 c.161_splice c.e3-1 p.R54_splice NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 54 Ig-like C2-type 1. angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) CCCTCTGTCCCCTGAAAAATT 0.428000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 22 48 0 0 0.00047179 0 0 CCDC178 374864 broad.mit.edu 37 18 30992029 30992029 + Silent SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr18:30992029G>A ENST00000383096.3 - 3 206 c.24C>T c.(22-24)tcC>tcT p.S8S CCDC178_ENST00000579947.1_Silent_p.S8S|CCDC178_ENST00000402325.1_Silent_p.S8S|CCDC178_ENST00000300227.8_Silent_p.S8S|CCDC178_ENST00000583930.1_Silent_p.S8S|CCDC178_ENST00000406524.2_Silent_p.S8S|CCDC178_ENST00000579916.1_Silent_p.S8S|CCDC178_ENST00000403303.1_Silent_p.S8S coiled-coil domain containing 178 p.S8S(1) TGGAAGAAGAGGAAACTGTCT 0.229000 10 23 0 0 0.00136819 0 0 HECA 51696 broad.mit.edu 37 6 139488217 139488217 + Silent SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr6:139488217C>T ENST00000367658.2 + 2 1353 c.1068C>T c.(1066-1068)atC>atT p.I356I RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.2_ENST00000588529.1_RNA NM_016217.2 NP_057301.1 Q9UBI9 HDC_HUMAN headcase homolog (Drosophila) 356 respiratory tube development endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1) 15 GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387) TCACTCACATCCCCAGGCATA 0.607000 15 35 0 0 0.000422831 0 0 SLCO1B3 28234 broad.mit.edu 37 12 21036450 21036450 + Silent SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr12:21036450G>A ENST00000381545.3 + 13 1815 c.1596G>A c.(1594-1596)agG>agA p.R532R SLCO1B3_ENST00000553473.1_Silent_p.R532R|SLCO1B3_ENST00000261196.2_Silent_p.R532R|LST3_ENST00000540229.1_Silent_p.R532R|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000381541.3_Intron NM_019844.3 NP_062818.1 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, member 1B3 532 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2) 63 Esophageal squamous(101;0.149) CTTGTACAAGGAAATTTTTCA 0.373000 26 53 0 0 0.00106085 0 0 POTEF 728378 broad.mit.edu 37 2 130869581 130869581 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr2:130869581C>T ENST00000357462.5 - 4 997 c.904G>A c.(904-906)Gat>Aat p.D302N POTEF_ENST00000360967.5_Missense_Mutation_p.D302N|POTEF_ENST00000361163.4_Missense_Mutation_p.D312N|POTEF_ENST00000409914.2_Missense_Mutation_p.D302N A5A3E0 POTEF_HUMAN POTE ankyrin domain family, member F 302 cell cortex ATP binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 53 CCATATCTATCCAGTGCATTT 0.323000 25 34 0 0 0.00278032 0 0 TRBV11-2 28581 broad.mit.edu 37 7 142197589 142197589 + RNA SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr7:142197589G>A ENST00000471935.1 - 0 388 CTGGCACAGAGATACACGGCC 0.517000 64 180 0 0 0.000781405 0 0 DNAH8 1769 broad.mit.edu 37 6 38825330 38825330 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr6:38825330G>A ENST00000359357.3 + 40 5373 c.5119G>A c.(5119-5121)Gat>Aat p.D1707N DNAH8_ENST00000449981.2_Missense_Mutation_p.D1924N|DNAH8_ENST00000441566.1_Missense_Mutation_p.D1707N dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 GTGGACACACGATTCAGAAGA 0.343000 15 52 0 0 0.000308642 0 0 NLRP8 126205 broad.mit.edu 37 19 56466752 56466752 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr19:56466752C>T ENST00000291971.3 + 3 1399 c.1328C>T c.(1327-1329)tCc>tTc p.S443F NLRP8_ENST00000590542.1_Missense_Mutation_p.S443F NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 443 NACHT. cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) GAGAACTTTTCCAGAAAGATC 0.473000 13 83 0 0 0.00185496 0 0 ARNT 405 broad.mit.edu 37 1 150804825 150804825 + Missense_Mutation SNP A A C TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:150804825A>C ENST00000358595.5 - 9 1054 c.854T>G c.(853-855)gTg>gGg p.V285G ARNT_ENST00000515192.1_Missense_Mutation_p.V276G|ARNT_ENST00000505755.1_Missense_Mutation_p.V270G|ARNT_ENST00000468970.1_5'UTR|ARNT_ENST00000354396.2_Missense_Mutation_p.V285G NM_001197325.1|NM_001668.3|NM_178427.2 NP_001184254.1|NP_001659.1|NP_848514.1 P27540 ARNT_HUMAN aryl hydrocarbon receptor nuclear translocator 285 positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1) 34 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211) TCTGTTCCTCACAAAGCTCAG 0.438000 T ETV6 AML 27 134 0 0 0.001512 0 0 CYP4F8 11283 broad.mit.edu 37 19 15728888 15728888 + RNA SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr19:15728888G>A ENST00000441682.2 + 0 340 P98187 CP4F8_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 8 prostaglandin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1) 26 TGAGGTGGTTGGGCCCCATCA 0.597000 11 61 0 0 0.00185496 0 0 ZKSCAN8 7745 broad.mit.edu 37 6 28119712 28119712 + Nonsense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr6:28119712C>T ENST00000330236.6 + 4 833 c.649C>T c.(649-651)Cag>Tag p.Q217* ZKSCAN8_ENST00000457389.2_Nonsense_Mutation_p.Q217* NM_001278119.1|NM_001278121.1|NM_001278122.1|NM_006298.2 NP_001265048.1|NP_001265050.1|NP_001265051.1|NP_006289.2 zinc finger with KRAB and SCAN domains 8 AGCAGGGTTCCAGGTGAGTTG 0.493000 25 44 0 0 0.00127121 0 0 GPR112 139378 broad.mit.edu 37 X 135428079 135428079 + Missense_Mutation SNP T T A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chrX:135428079T>A ENST00000394143.1 + 6 2505 c.2214T>A c.(2212-2214)aaT>aaA p.N738K GPR112_ENST00000412101.1_Missense_Mutation_p.N533K|GPR112_ENST00000394141.1_Missense_Mutation_p.N533K|GPR112_ENST00000370652.1_Missense_Mutation_p.N738K|GPR112_ENST00000287534.4_Missense_Mutation_p.N675K NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 738 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) GGTTTGCTAATTTCTCCATAG 0.388000 13 56 0 0 0.000308642 0 0 CAPZA3 93661 broad.mit.edu 37 12 18891911 18891911 + Nonsense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr12:18891911C>T ENST00000317658.3 + 1 867 c.709C>T c.(709-711)Caa>Taa p.Q237* NM_033328.2 NP_201585.1 Q96KX2 CAZA3_HUMAN capping protein (actin filament) muscle Z-line, alpha 3 237 actin cytoskeleton organization|actin filament capping F-actin capping protein complex actin binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1) 19 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) Hepatocellular(102;0.194) GAACAAATTTCAAGCTGCAGT 0.423000 23 48 0 0 0.00278032 0 0 ABCA13 154664 broad.mit.edu 37 7 48450124 48450124 + Silent SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr7:48450124G>A ENST00000435803.1 + 40 12102 c.12078G>A c.(12076-12078)acG>acA p.T4026T NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 4026 ABC transporter 1. transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 CAGGTCGTACGATCATCTTCA 0.607000 22 88 0 0 0.000720815 0 0 OR2J2 26707 broad.mit.edu 37 6 29141462 29141462 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr6:29141462G>A ENST00000377167.2 + 1 152 c.50G>A c.(49-51)gGa>gAa p.G17E NM_030905.2 NP_112167.2 O76002 OR2J2_HUMAN olfactory receptor, family 2, subfamily J, member 2 17 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1) 25 ATTCTACTTGGATTTTCTAAT 0.358000 42 108 0 0 0.000680045 0 0 ARAP2 116984 broad.mit.edu 37 4 36212304 36212304 + Nonsense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr4:36212304G>A ENST00000303965.4 - 6 1684 c.1195C>T c.(1195-1197)Cga>Tga p.R399* NM_015230.3 NP_056045.2 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 399 regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding p.R399*(1) breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1) 82 TTGTCCTCTCGAGGTATCCAA 0.338000 44 123 0 0 0.000781405 0 0 OR5M8 219484 broad.mit.edu 37 11 56258182 56258182 + Missense_Mutation SNP G G T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr11:56258182G>T ENST00000327216.2 - 1 689 c.665C>A c.(664-666)cCt>cAt p.P222H NM_001005282.1 NP_001005282.1 Q8NGP6 OR5M8_HUMAN olfactory receptor, family 5, subfamily M, member 8 222 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 Esophageal squamous(21;0.00352) TAAAATAGCAGGGAAAATGTA 0.408000 12 29 1.49906e-05 7.33763e-05 0.00244969 1 0 FAT1 2195 broad.mit.edu 37 4 187541133 187541133 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr4:187541133G>A ENST00000441802.2 - 10 6816 c.6607C>T c.(6607-6609)Cac>Tac p.H2203Y NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 2203 Cadherin 20. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 GCCTGCACGTGGACCACAGGG 0.488000 HNSCC(5;0.00058) 35 97 0 0 0.00128727 0 0 KCNA6 3742 broad.mit.edu 37 12 4920465 4920465 + Missense_Mutation SNP A A T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr12:4920465A>T ENST00000433855.1 + 1 2124 c.1258A>T c.(1258-1260)Atg>Ttg p.M420L KCNA6_ENST00000280684.3_Missense_Mutation_p.M420L NM_002235.3 NP_002226.1 P17658 KCNA6_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 6 420 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5) 49 AGTGGTTACAATGACCACGGT 0.587000 HNSCC(72;0.22) 34 68 0 0 0.000953801 0 0 PRLR 5618 broad.mit.edu 37 5 35065851 35065851 + Silent SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr5:35065851G>A ENST00000382002.5 - 10 1635 c.1209C>T c.(1207-1209)atC>atT p.I403I PRLR_ENST00000231423.3_Intron|PRLR_ENST00000342362.5_Silent_p.I302I|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000511486.1_Silent_p.I302I|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000310101.5_Intron|PRLR_ENST00000348262.3_Intron NM_000949.5 NP_000940.1 P16471 PRLR_HUMAN prolactin receptor 403 activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation cell surface|extracellular region|integral to membrane metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 all_lung(31;3.83e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052) GAAAATAGGGGATTTTGCCTT 0.488000 59 138 0 0 0.000781405 0 0 LGALS13 29124 broad.mit.edu 37 19 40095889 40095889 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr19:40095889G>A ENST00000221797.4 + 3 209 c.164G>A c.(163-165)cGa>cAa p.R55Q NM_013268.2 NP_037400.1 Q9UHV8 PP13_HUMAN lectin, galactoside-binding, soluble, 13 55 Galectin. lipid catabolic process|phospholipid metabolic process carboxylesterase activity|lysophospholipase activity|sugar binding lung(5)|ovary(1)|urinary_tract(1) 7 all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116) Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281) TTCCGTTTCCGAGTGCACTTT 0.498000 7 53 0 0 0.000274275 0 0 ZAN 7455 broad.mit.edu 37 7 100369572 100369572 + RNA SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr7:100369572C>T ENST00000542585.1 + 0 5502 ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000348028.3_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) CTGTGCCGCTCCCTGCAGGCC 0.647000 8 37 0 0 0.000157383 0 0 MYO5A 4644 broad.mit.edu 37 15 52681452 52681452 + Nonsense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr15:52681452G>A ENST00000399231.3 - 13 1894 c.1651C>T c.(1651-1653)Caa>Taa p.Q551* MYO5A_ENST00000356338.6_Nonsense_Mutation_p.Q551*|MYO5A_ENST00000553916.1_Nonsense_Mutation_p.Q551*|MYO5A_ENST00000399233.2_Nonsense_Mutation_p.Q551*|MYO5A_ENST00000358212.6_Nonsense_Mutation_p.Q551* NM_000259.3 NP_000250.3 Q9Y4I1 MYO5A_HUMAN myosin VA (heavy chain 12, myoxin) 551 Myosin head-like. actin filament-based movement|transport cytoplasm|growth cone|myosin complex|ruffle actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1) 57 all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196) GCAAAATGTTGGATGATGAAA 0.353000 9 41 0 0 0.000673444 0 0 ASRGL1 80150 broad.mit.edu 37 11 62124474 62124474 + Silent SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr11:62124474C>T ENST00000415229.2 + 4 564 c.349C>T c.(349-351)Ctg>Ttg p.L117L ASRGL1_ENST00000301776.5_Silent_p.L117L|ASRGL1_ENST00000535727.1_5'UTR NM_001083926.1 NP_001077395.1 Q7L266 ASGL1_HUMAN asparaginase like 1 117 asparagine catabolic process via L-aspartate|protein maturation cytoplasm|microtubule cytoskeleton|nucleus N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 7 L-Asparagine(DB00174)|L-Aspartic Acid(DB00128) TCATTGCTTTCTGACTGACCA 0.398000 19 38 0 0 0.00278032 0 0 CHTF8 54921 broad.mit.edu 37 16 69154546 69154546 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr16:69154546G>A ENST00000448552.2 - 4 269 c.148C>T c.(148-150)Cct>Tct p.P50S CHTF8_ENST00000520529.1_Silent_p.S10S|CHTF8_ENST00000518041.1_Intron|CHTF8_ENST00000306585.6_5'UTR|CHTF8_ENST00000523421.1_Intron|CHTF8_ENST00000519520.1_Silent_p.S10S|CHTF8_ENST00000398235.2_Missense_Mutation_p.P50S|CHTF8_ENST00000522091.1_3'UTR NM_001039690.3|NM_001040146.3 NP_001034779.1|NP_001035236.1 P0CG13 CTF8_HUMAN CTF8, chromosome transmission fidelity factor 8 homolog (S. cerevisiae) 50 cell cycle|DNA replication nucleus DNA binding ATCAGCACAGGGATTCCCTTT 0.532000 20 40 0 0 0.00278032 0 0 MB21D2 151963 broad.mit.edu 37 3 192517371 192517371 + Missense_Mutation SNP G G C TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr3:192517371G>C ENST00000392452.2 - 2 600 c.280C>G c.(280-282)Cgg>Ggg p.R94G NM_178496.3 NP_848591.2 Q8IYB1 M21D2_HUMAN Mab-21 domain containing 2 94 endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 31 ACGCCTTCCCGGACACCTCCA 0.473000 12 25 0 0 0.00244969 0 0 SPRED1 161742 broad.mit.edu 37 15 38643623 38643623 + Nonsense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr15:38643623C>T ENST00000299084.4 + 7 1953 c.1093C>T c.(1093-1095)Caa>Taa p.Q365* NM_152594.2 NP_689807.1 Q7Z699 SPRE1_HUMAN sprouty-related, EVH1 domain containing 1 365 SPR. inactivation of MAPK activity|multicellular organismal development caveola|nucleus stem cell factor receptor binding kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244) ATGCATATATCAAGTTAGTTG 0.428000 Legius syndrome 38 84 0 0 0.000953801 0 0 SALL1 6299 broad.mit.edu 37 16 51175508 51175508 + Nonsense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr16:51175508G>A ENST00000440970.1 - 2 765 c.334C>T c.(334-336)Cag>Tag p.Q112* SALL1_ENST00000251020.4_Nonsense_Mutation_p.Q209*|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 209 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) TGGGAGAACTGGGCCACCGCC 0.607000 34 73 0 0 0.000953801 0 0 OR52M1 119772 broad.mit.edu 37 11 4567252 4567252 + Silent SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr11:4567252C>T ENST00000360213.1 + 1 832 c.832C>T c.(832-834)Ctg>Ttg p.L278L NM_001004137.1 NP_001004137.1 Q8NGK5 O52M1_HUMAN olfactory receptor, family 52, subfamily M, member 1 278 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 18 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) AGTCCACACTCTGCTGGCCAA 0.498000 10 41 0 0 0.000442599 0 0 GOLGA3 2802 broad.mit.edu 37 12 133357462 133357462 + Silent SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr12:133357462G>A ENST00000204726.3 - 18 4062 c.3504C>T c.(3502-3504)cgC>cgT p.R1168R GOLGA3_ENST00000456883.2_Silent_p.R1168R|GOLGA3_ENST00000450791.2_Silent_p.R1168R NM_005895.3 NP_005886.2 Q08378 GOGA3_HUMAN golgin A3 1168 intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) GCTTCATCTGGCGATCCTCCT 0.537000 15 46 0 0 0.00244969 0 0 GGT1 2678 broad.mit.edu 37 22 25019805 25019805 + Silent SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr22:25019805C>T ENST00000400382.1 + 11 1697 c.942C>T c.(940-942)caC>caT p.H314H GGT1_ENST00000248923.4_Silent_p.H314H|GGT1_ENST00000406383.2_Silent_p.H314H|GGT1_ENST00000400380.1_Silent_p.H314H|GGT1_ENST00000400383.1_Silent_p.H314H|GGT1_ENST00000466310.1_3'UTR P19440 GGT1_HUMAN gamma-glutamyltransferase 1 314 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) TGACGTACCACCGCATCGTAG 0.617000 9 18 0 0 0.00136819 0 0 SLC19A3 80704 broad.mit.edu 37 2 228563556 228563556 + Missense_Mutation SNP A A G TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr2:228563556A>G ENST00000258403.3 - 3 946 c.875T>C c.(874-876)tTt>tCt p.F292S SLC19A3_ENST00000409287.1_Intron|SLC19A3_ENST00000541617.1_Missense_Mutation_p.F288S NM_025243.3 NP_079519.1 Q9BZV2 S19A3_HUMAN solute carrier family 19 (thiamine transporter), member 3 292 thiamine-containing compound metabolic process integral to membrane|plasma membrane folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3) 30 Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236) Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125) L-Cysteine(DB00151) AACCTGGTTAAAACCTGCTGT 0.453000 23 64 0 0 0.00188189 0 0 CYLC1 1538 broad.mit.edu 37 X 83128367 83128367 + Silent SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chrX:83128367G>A ENST00000329312.4 + 4 688 c.651G>A c.(649-651)aaG>aaA p.K217K NM_021118.1 NP_066941.1 P35663 CYLC1_HUMAN cylicin, basic protein of sperm head cytoskeleton 1 217 cell differentiation|multicellular organismal development|spermatogenesis acrosomal matrix|cytoskeletal calyx structural molecule activity NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 58 TACATACAAAGAACAATCCAA 0.308000 5 29 0 0 0.000602214 0 0 FAM135B 51059 broad.mit.edu 37 8 139164294 139164294 + Silent SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr8:139164294G>A ENST00000395297.1 - 13 2594 c.2424C>T c.(2422-2424)tcC>tcT p.S808S NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 808 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) AAGATCCTGGGGAACCTTGGC 0.527000 HNSCC(54;0.14) 26 36 0 0 0.00106085 0 0 CCDC140 151278 broad.mit.edu 37 2 223169005 223169005 + Silent SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr2:223169005C>T ENST00000295226.1 + 2 768 c.384C>T c.(382-384)ctC>ctT p.L128L NM_153038.1 NP_694583.1 Q96MF4 CC140_HUMAN coiled-coil domain containing 140 128 endometrium(4)|large_intestine(1)|prostate(1) 6 Renal(207;0.0376) Epithelial(121;4.03e-10)|all cancers(144;1.8e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CACGTACTCTCCCGACCCCTC 0.532000 11 28 0 0 0.00244969 0 0 HERC2P3 283755 broad.mit.edu 37 15 20645802 20645802 + RNA SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr15:20645802G>A ENST00000428453.1 - 0 2963 central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 TCCACTGCAGGGAGCTGAGGG 0.617000 6 11 0 0 0.00116845 0 0 ALG10B 144245 broad.mit.edu 37 12 38714839 38714839 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr12:38714839C>T ENST00000308742.4 + 3 1562 c.1246C>T c.(1246-1248)Cgt>Tgt p.R416C ALG10B_ENST00000551464.1_Intron NM_001013620.3 NP_001013642.1 Q5I7T1 AG10B_HUMAN ALG10B, alpha-1,2-glucosyltransferase 416 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane|plasma membrane dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1) 25 Esophageal squamous(101;0.187) Lung NSC(34;0.204)|all_lung(34;0.235) GCTGGAATTTCGTTACTTCAT 0.333000 41 118 0 0 0.000781405 0 0 NIPBL 25836 broad.mit.edu 37 5 37052538 37052538 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr5:37052538C>T ENST00000282516.8 + 42 7632 c.7133C>T c.(7132-7134)cCt>cTt p.P2378L NIPBL_ENST00000448238.2_Missense_Mutation_p.P2378L NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 2378 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) CTAAAAGATCCTGTAAGGGGT 0.433000 18 39 0 0 0.00074312 0 0 KCNAB1 7881 broad.mit.edu 37 3 156139410 156139410 + Missense_Mutation SNP T T C TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr3:156139410T>C ENST00000302490.8 + 2 1098 c.227T>C c.(226-228)cTt>cCt p.L76P KCNAB1_ENST00000389634.5_Missense_Mutation_p.L76P|KCNAB1_ENST00000389636.5_Missense_Mutation_p.L94P|KCNAB1_ENST00000490337.1_Missense_Mutation_p.L94P|KCNAB1_ENST00000471742.1_Missense_Mutation_p.L83P NM_172159.3 NP_751891.1 Q14722 KCAB1_HUMAN potassium voltage-gated channel, shaker-related subfamily, beta member 1 94 cytoplasm|integral to membrane oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) TATAGGAATCTTGGAAAATCA 0.463000 32 90 0 0 0.00058488 0 0 OR10J1 26476 broad.mit.edu 37 1 159410507 159410507 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:159410507C>T ENST00000423932.3 + 1 996 c.959C>T c.(958-960)tCc>tTc p.S320F RP11-550P17.5_ENST00000431862.1_RNA NM_012351.2 NP_036483.2 P30954 O10J1_HUMAN olfactory receptor, family 10, subfamily J, member 1 320 sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1) 25 all_hematologic(112;0.0429) GGGAAGTTTTCCTGACCATGT 0.493000 23 62 0 0 0.00278032 0 0 HIP1R 9026 broad.mit.edu 37 12 123335413 123335413 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr12:123335413C>T ENST00000253083.4 + 6 595 c.470C>T c.(469-471)aCa>aTa p.T157I NM_003959.1 NP_003950.1 O75146 HIP1R_HUMAN huntingtin interacting protein 1 related 157 receptor-mediated endocytosis clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm actin binding|phosphatidylinositol binding breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 26 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2) CTGGAGGTGACAGATGAGGTA 0.622000 17 57 0 0 0.00121646 0 0 TSSK4 283629 broad.mit.edu 37 14 24677292 24677292 + Silent SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr14:24677292G>A ENST00000339917.5 + 4 1161 c.957G>A c.(955-957)gaG>gaA p.E319E TM9SF1_ENST00000556387.1_Intron|TM9SF1_ENST00000530611.1_Intron|TSSK4_ENST00000556621.1_Silent_p.E233E|TSSK4_ENST00000428351.2_Silent_p.E116E|TSSK4_ENST00000287913.6_Silent_p.E309E NM_001184739.1|NM_174944.3 NP_001171668.1|NP_777604.2 Q6SA08 TSSK4_HUMAN testis-specific serine kinase 4 309 cell differentiation|multicellular organismal development|positive regulation of CREB transcription factor activity|spermatogenesis ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2) 8 GBM - Glioblastoma multiforme(265;0.018) GGCTGCTTGAGGCCATGTGCC 0.542000 14 27 0 0 0.00244969 0 0 EXD1 161829 broad.mit.edu 37 15 41482309 41482309 + Nonsense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr15:41482309C>T ENST00000314992.5 - 9 898 c.708G>A c.(706-708)tgG>tgA p.W236* EXD1_ENST00000458580.2_Nonsense_Mutation_p.W294* NM_152596.2 NP_689809.2 Q8NHP7 EXD1_HUMAN exonuclease 3'-5' domain containing 1 236 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 GTCGGATGAACCATACTTCTG 0.433000 54 86 0 0 0.000781405 0 0 ZCCHC5 203430 broad.mit.edu 37 X 77913245 77913245 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chrX:77913245G>A ENST00000321110.1 - 2 968 c.673C>T c.(673-675)Cca>Tca p.P225S NM_152694.2 NP_689907.1 Q8N8U3 ZCHC5_HUMAN zinc finger, CCHC domain containing 5 225 nucleic acid binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1) 37 GGGGCCTGTGGAAACTCTGAA 0.507000 11 22 0 0 0.00136819 0 0 ADAM32 203102 broad.mit.edu 37 8 39114851 39114851 + Silent SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr8:39114851C>T ENST00000379907.4 + 19 2278 c.2151C>T c.(2149-2151)ttC>ttT p.F717F ADAM32_ENST00000437682.2_Silent_p.F618F|ADAM32_ENST00000519315.1_Silent_p.F611F NM_145004.5 NP_659441.3 Q8TC27 ADA32_HUMAN ADAM metallopeptidase domain 32 717 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2) 31 all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503) LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146) AAGAGGAATTCCCAAGTAGCG 0.368000 40 92 0 0 0.000781405 0 0 PLEC 5339 broad.mit.edu 37 8 144995049 144995049 + Silent SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr8:144995049C>T ENST00000322810.4 - 32 9520 c.9351G>A c.(9349-9351)ctG>ctA p.L3117L PLEC_ENST00000354958.2_Silent_p.L2958L|PLEC_ENST00000527096.1_Silent_p.L3003L|PLEC_ENST00000354589.3_Silent_p.L2980L|PLEC_ENST00000356346.3_Silent_p.L2966L|PLEC_ENST00000436759.2_Silent_p.L3007L|PLEC_ENST00000345136.3_Silent_p.L2980L|PLEC_ENST00000357649.2_Silent_p.L2984L|PLEC_ENST00000398774.2_Silent_p.L2948L NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 3117 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 CGGCTGGCACCAGGCTGCGCA 0.642000 11 14 0 0 0.000978159 0 0 BMP3 651 broad.mit.edu 37 4 81966994 81966994 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr4:81966994G>A ENST00000282701.2 + 2 739 c.419G>A c.(418-420)gGa>gAa p.G140E NM_001201.2 NP_001192.2 P12645 BMP3_HUMAN bone morphogenetic protein 3 140 cartilage development|cell differentiation|cell-cell signaling|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1) 29 GGAGAGCTAGGAAACATCAGC 0.428000 24 71 0 0 0.00278032 0 0 KRT10 3858 broad.mit.edu 37 17 38978776 38978776 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr17:38978776C>T ENST00000269576.5 - 1 71 c.62G>A c.(61-63)gGa>gAa p.G21E TMEM99_ENST00000301665.3_Intron|TMEM99_ENST00000496847.1_Intron NM_000421.3 NP_000412.3 P13645 K1C10_HUMAN keratin 10 21 Gly-rich.|Head. epidermis development protein binding|structural constituent of epidermis NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1) 11 Breast(137;0.000301) tcctcctcctcctcctcctcc 0.552000 9 17 0 0 0.000274275 0 0 MRGPRX1 259249 broad.mit.edu 37 11 18955401 18955401 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr11:18955401C>T ENST00000302797.3 - 1 1155 c.931G>A c.(931-933)Gaa>Aaa p.E311K NM_147199.3 NP_671732.3 Q96LB2 MRGX1_HUMAN MAS-related GPR, member X1 311 EEI -> QET (in Ref. 2; AAL86880). acute-phase response integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 TCCAGGATTTCCTCAGGAAGC 0.567000 9 50 0 0 0.000274275 0 0 ITGA4 3676 broad.mit.edu 37 2 182343501 182343501 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr2:182343501G>A ENST00000397033.2 + 5 1004 c.574G>A c.(574-576)Gga>Aga p.G192R ITGA4_ENST00000478440.1_3'UTR NM_000885.4 NP_000876.3 P13612 ITA4_HUMAN integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) 192 blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) GAAAAAATTTGGAGAAAATTT 0.234000 6 13 0 0 0.00116845 0 0 MISP 126353 broad.mit.edu 37 19 757679 757679 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr19:757679G>A ENST00000215582.6 + 2 836 c.733G>A c.(733-735)Gtt>Att p.V245I NM_173481.2 NP_775752.1 mitotic spindle positioning CGGGCACGTGGTTCCCATCAA 0.662000 9 15 0 0 0.000978159 0 0 DCC 1630 broad.mit.edu 37 18 50731625 50731625 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr18:50731625C>T ENST00000442544.2 + 10 2229 c.1613C>T c.(1612-1614)tCt>tTt p.S538F DCC_ENST00000581580.1_Missense_Mutation_p.S193F|DCC_ENST00000412726.1_Missense_Mutation_p.S386F NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 538 Fibronectin type-III 2. 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) CAAGCTGTATCTACCTCACCT 0.423000 50 131 0 0 0.000781405 0 0 NTNG1 22854 broad.mit.edu 37 1 107691265 107691265 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:107691265C>T ENST00000370067.1 + 2 677 c.50C>T c.(49-51)tCc>tTc p.S17F NTNG1_ENST00000370066.1_Missense_Mutation_p.S17F|NTNG1_ENST00000370072.3_Missense_Mutation_p.S17F|NTNG1_ENST00000370070.2_Missense_Mutation_p.S17F|NTNG1_ENST00000370068.1_Missense_Mutation_p.S17F|NTNG1_ENST00000370073.2_Missense_Mutation_p.S17F|NTNG1_ENST00000370071.2_Missense_Mutation_p.S17F|NTNG1_ENST00000370065.1_Missense_Mutation_p.S17F|NTNG1_ENST00000370074.4_Missense_Mutation_p.S17F|NTNG1_ENST00000370061.3_Missense_Mutation_p.S17F|NTNG1_ENST00000542803.1_Missense_Mutation_p.S17F Q9Y2I2 NTNG1_HUMAN netrin G1 17 axonogenesis anchored to plasma membrane protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1) 37 all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243) Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245) GTTACGGTGTCCTCAGTGATG 0.423000 41 88 0 0 0.0025221 0 0 LRBA 987 broad.mit.edu 37 4 151392883 151392883 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr4:151392883G>A ENST00000535741.1 - 43 7033 c.6560C>T c.(6559-6561)tCa>tTa p.S2187L LRBA_ENST00000507224.1_Missense_Mutation_p.S2187L|LRBA_ENST00000510413.1_Missense_Mutation_p.S2187L|LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000357115.3_Missense_Mutation_p.S2198L P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and anchor containing 2198 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 all_hematologic(180;0.151) ACTAGCTAATGAAATACGTCT 0.313000 30 61 0 0 0.00283554 0 0 ACTN2 88 broad.mit.edu 37 1 236914940 236914940 + Silent SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:236914940C>T ENST00000366578.4 + 15 1993 c.1827C>T c.(1825-1827)acC>acT p.T609T ACTN2_ENST00000542672.1_Silent_p.T609T|ACTN2_ENST00000546208.1_Silent_p.T103T NM_001103.2|NM_001278343.1 NP_001094.1|NP_001265272.1 P35609 ACTN2_HUMAN actinin, alpha 2 609 focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3) 86 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) AGCTCCGGACCAAGTGGGACA 0.567000 8 51 0 0 0.000274275 0 0 PCDHB14 56122 broad.mit.edu 37 5 140605400 140605400 + Nonsense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr5:140605400C>T ENST00000239449.4 + 1 2323 c.2323C>T c.(2323-2325)Caa>Taa p.Q775* PCDHB14_ENST00000515856.2_Nonsense_Mutation_p.Q622* NM_018934.2 NP_061757.1 Q9Y5E9 PCDBE_HUMAN 775 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCCCAATTTTCAAGTTCATGA 0.403000 16 40 0 0 0.000566183 0 0 NF1 4763 broad.mit.edu 37 17 29654621 29654621 + Silent SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr17:29654621C>T ENST00000358273.4 + 38 5756 c.5373C>T c.(5371-5373)atC>atT p.I1791I NF1_ENST00000581113.2_3'UTR|NF1_ENST00000356175.3_Silent_p.I1770I NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 1791 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(3) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) TTGAAGAAATCTGCCTAGTAG 0.448000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 9 70 0 0 0.000673444 0 0 BAG6 7917 broad.mit.edu 37 6 31615563 31615563 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr6:31615563G>A ENST00000404765.2 - 7 882 c.593C>T c.(592-594)cCg>cTg p.P198L BAG6_ENST00000375976.4_Missense_Mutation_p.P198L|BAG6_ENST00000211379.5_Missense_Mutation_p.P198L|BAG6_ENST00000439687.2_Missense_Mutation_p.P198L|BAG6_ENST00000375964.6_Missense_Mutation_p.P204L|BAG6_ENST00000362049.6_Missense_Mutation_p.P198L P46379 BAG6_HUMAN BCL2-associated athanogene 6 204 Pro-rich. apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process BAT3 complex|nucleus polyubiquitin binding|proteasome binding|ribosome binding p.P198Q(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2) 36 CGGTGGCTGCGGGGGCGGCTG 0.602000 155 337 0 0 0.000781405 0 0 COL11A2 1302 broad.mit.edu 37 6 33132137 33132137 + Silent SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr6:33132137G>A ENST00000341947.2 - 65 5204 c.4977C>T c.(4975-4977)gcC>gcT p.A1659A COL11A2_ENST00000374708.4_Silent_p.A1573A|COL11A2_ENST00000395197.1_Silent_p.A1599A|COL11A2_ENST00000357486.1_Silent_p.A1638A|COL11A2_ENST00000361917.1_Silent_p.A1552A|COL11A2_ENST00000374714.1_Silent_p.A1633A|COL11A2_ENST00000374712.1_Silent_p.A1578A|COL11A2_ENST00000374713.1_Silent_p.A1612A|COL11A2_ENST00000477772.1_5'UTR NM_080680.2 NP_542411.2 P13942 COBA2_HUMAN collagen, type XI, alpha 2 1659 Fibrillar collagen NC1. 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 GACCGTCACGGGCTGCTCCAG 0.627000 4 17 0 0 0.000602214 0 0 CALD1 800 broad.mit.edu 37 7 134625906 134625906 + Nonsense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr7:134625906C>T ENST00000361388.2 + 7 1229 c.763C>T c.(763-765)Cga>Tga p.R255* CALD1_ENST00000361901.2_Nonsense_Mutation_p.R229*|CALD1_ENST00000543443.1_Nonsense_Mutation_p.R234*|CALD1_ENST00000393118.2_Nonsense_Mutation_p.R249*|CALD1_ENST00000422748.1_Nonsense_Mutation_p.R255*|CALD1_ENST00000361675.2_Nonsense_Mutation_p.R484*|CALD1_ENST00000417172.1_Nonsense_Mutation_p.R229*|CALD1_ENST00000424922.1_Nonsense_Mutation_p.R223*|CALD1_ENST00000495522.1_Nonsense_Mutation_p.R249* NM_033138.3|NM_033157.3 NP_149129.2|NP_149347.2 Q05682 CALD1_HUMAN caldesmon 1 484 cellular component movement|muscle contraction cytosol|focal adhesion|myofibril actin binding|calmodulin binding|myosin binding|tropomyosin binding p.R484G(1) NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10) 43 CTTCATGGATCGAAAGAAGGG 0.358000 20 46 0 0 0.00152264 0 0 CSMD3 114788 broad.mit.edu 37 8 113529291 113529291 + Silent SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr8:113529291G>A ENST00000297405.5 - 28 4972 c.4728C>T c.(4726-4728)ttC>ttT p.F1576F CSMD3_ENST00000343508.3_Silent_p.F1536F|CSMD3_ENST00000455883.2_Silent_p.F1472F|CSMD3_ENST00000352409.3_Silent_p.F1576F NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1576 Sushi 8. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TGGGCTGCCAGAAGTACCGAT 0.368000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 26 49 0 0 0.00209593 0 0 WDR78 79819 broad.mit.edu 37 1 67301341 67301341 + Silent SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:67301341C>T ENST00000371026.3 - 11 1756 c.1701G>A c.(1699-1701)cgG>cgA p.R567R WDR78_ENST00000431318.1_Silent_p.R313R NM_024763.4 NP_079039.4 Q5VTH9 WDR78_HUMAN WD repeat domain 78 567 NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3) 32 TACTGTTGCTCCGTACATTGT 0.368000 23 54 0 0 0.00278032 0 0 EPPK1 83481 broad.mit.edu 37 8 144940463 144940463 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr8:144940463G>A ENST00000525985.1 - 2 7030 c.6959C>T c.(6958-6960)tCc>tTc p.S2320F P58107 EPIPL_HUMAN epiplakin 1 2320 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CTGGAAGAGGGAGATCTGCTG 0.706000 16 245 0 0 0.000566183 0 0 ST8SIA3 51046 broad.mit.edu 37 18 55020146 55020146 + Silent SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr18:55020146G>A ENST00000324000.3 + 1 2103 c.69G>A c.(67-69)ctG>ctA p.L23L NM_015879.2 NP_056963.2 O43173 SIA8C_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 23 glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3) 36 READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205) TCGCCCTGCTGATTTTATCGC 0.602000 14 42 0 0 0.00244969 0 0 LRRC6 23639 broad.mit.edu 37 8 133584601 133584601 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr8:133584601C>T ENST00000519595.1 - 12 1452 c.1354G>A c.(1354-1356)Gaa>Aaa p.E452K LRRC6_ENST00000518642.1_3'UTR|LRRC6_ENST00000250173.1_Missense_Mutation_p.E452K Q86X45 LRRC6_HUMAN leucine rich repeat containing 6 452 cytoplasm breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2) 34 Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) GTTGGGTCTTCCTCACTTGGT 0.478000 39 108 0 0 0.00148497 0 0 ATP7A 538 broad.mit.edu 37 X 77245370 77245370 + Missense_Mutation SNP A A C TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chrX:77245370A>C ENST00000341514.6 + 4 1407 c.1252A>C c.(1252-1254)Act>Cct p.T418P ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Missense_Mutation_p.T418P NM_000052.5 NP_000043.3 Q04656 ATP7A_HUMAN ATPase, Cu++ transporting, alpha polypeptide 418 HMA 4. ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1) 53 TAGCAATGGGACTGTTGAGTA 0.408000 20 93 0 0 0.00152264 0 0 HOXB2 3212 broad.mit.edu 37 17 46621972 46621972 + Missense_Mutation SNP T T C TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr17:46621972T>C ENST00000330070.4 - 1 1469 c.302A>G c.(301-303)aAg>aGg p.K101R HOXB-AS1_ENST00000435312.1_RNA|HOXB-AS1_ENST00000504972.3_RNA NM_002145.3 NP_002136.1 P14652 HXB2_HUMAN homeobox B2 101 blood circulation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 11 GGCGGATTTCTTCTCTTTCAT 0.692000 4 59 0 0 0.000602214 0 0 TRPM3 80036 broad.mit.edu 37 9 73240416 73240416 + Silent SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr9:73240416G>A ENST00000377105.1 - 13 1545 c.1191C>T c.(1189-1191)ttC>ttT p.F397F TRPM3_ENST00000360823.2_Intron|TRPM3_ENST00000396285.1_Intron|TRPM3_ENST00000423814.3_Intron|TRPM3_ENST00000377110.2_Intron|TRPM3_ENST00000396292.4_Intron|TRPM3_ENST00000396280.5_Silent_p.F397F|TRPM3_ENST00000358082.3_Intron|TRPM3_ENST00000377106.1_Intron|TRPM3_ENST00000357533.2_Silent_p.F552F|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000408909.2_Silent_p.F397F NM_024971.5|NM_206945.3 NP_079247.5|NP_996828.3 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, subfamily M, member 3 569 integral to membrane calcium channel activity NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 AGATCCAACCGAAACCTGGAT 0.284000 16 32 0 0 0.000958276 0 0 OR6A2 8590 broad.mit.edu 37 11 6816899 6816899 + Missense_Mutation SNP A A G TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr11:6816899A>G ENST00000332601.3 - 1 229 c.41T>C c.(40-42)gTg>gCg p.V14A NM_003696.2 NP_003687.2 O95222 OR6A2_HUMAN olfactory receptor, family 6, subfamily A, member 2 14 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 29 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) GCCCAGCAACACAAACTCACT 0.507000 12 45 0 0 0.00185496 0 0 FDFT1 2222 broad.mit.edu 37 8 11667262 11667262 + Missense_Mutation SNP C C A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr8:11667262C>A ENST00000220584.4 + 3 506 c.284C>A c.(283-285)cCg>cAg p.P95Q FDFT1_ENST00000525777.1_Missense_Mutation_p.P10Q|FDFT1_ENST00000538689.1_5'UTR|FDFT1_ENST00000530664.1_Missense_Mutation_p.P31Q|FDFT1_ENST00000528812.1_Missense_Mutation_p.P31Q|FDFT1_ENST00000443614.2_Missense_Mutation_p.P95Q|FDFT1_ENST00000525900.1_Missense_Mutation_p.P88Q|FDFT1_ENST00000528643.1_Missense_Mutation_p.P10Q|FDFT1_ENST00000446331.2_Intron NM_004462.3 NP_004453.3 P37268 FDFT_HUMAN farnesyl-diphosphate farnesyltransferase 1 95 cholesterol biosynthetic process|isoprenoid biosynthetic process endoplasmic reticulum membrane|integral to membrane farnesyl-diphosphate farnesyltransferase activity|oxidoreductase activity|protein binding|squalene synthase activity breast(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2) 12 all_epithelial(15;0.234) STAD - Stomach adenocarcinoma(15;0.00225) COAD - Colon adenocarcinoma(149;0.18) AAGAAGGTCCCGCTGTTACAC 0.498000 5 73 3.59834e-05 0.000175839 0.00116845 1 0 SLC35D3 340146 broad.mit.edu 37 6 137245608 137245608 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr6:137245608G>A ENST00000331858.4 + 2 1190 c.1025G>A c.(1024-1026)gGa>gAa p.G342E NM_001008783.1 NP_001008783.1 Q5M8T2 S35D3_HUMAN solute carrier family 35, member D3 342 carbohydrate transport integral to membrane p.G342E(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1) 13 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365) GGGGAGGGAGGAAATGGCCGG 0.687000 6 18 0 0 0.00116845 0 0 ANKRD28 23243 broad.mit.edu 37 3 15719851 15719851 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr3:15719851G>A ENST00000399451.2 - 24 2849 c.2482C>T c.(2482-2484)Cat>Tat p.H828Y ANKRD28_ENST00000497037.1_5'UTR|ANKRD28_ENST00000383777.1_Missense_Mutation_p.H861Y NM_001195098.1|NM_001195099.1|NM_015199.3 NP_001182027.1|NP_001182028.1|NP_056014.2 O15084 ANR28_HUMAN ankyrin repeat domain 28 828 nucleoplasm protein binding breast(2)|endometrium(1)|large_intestine(2)|prostate(1) 6 GCGGCTGCATGGAGAGGAGTT 0.363000 9 61 0 0 0.00136819 0 0 KRT9 3857 broad.mit.edu 37 17 39724582 39724582 + Missense_Mutation SNP A A C TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr17:39724582A>C ENST00000246662.4 - 6 1291 c.1226T>G c.(1225-1227)cTg>cGg p.L409R KRT9_ENST00000588431.1_Missense_Mutation_p.L176R NM_000226.3 NP_000217.2 P35527 K1C9_HUMAN keratin 9 409 Coil 2.|Rod. intermediate filament organization|skin development protein binding|structural constituent of cytoskeleton autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 Breast(137;0.000307) GATCATCTGCAGCTGGCCACA 0.512000 8 62 0 0 0.000274275 0 0 CCDC172 374355 broad.mit.edu 37 10 118137974 118137974 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr10:118137974G>A ENST00000333254.3 + 8 944 c.693G>A c.(691-693)atG>atA p.M231I NM_198515.2 NP_940917.1 coiled-coil domain containing 172 AAGATGACATGGAAAGTGTTT 0.274000 25 28 0 0 0.00127121 0 0 TECTA 7007 broad.mit.edu 37 11 121008698 121008698 + Silent SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr11:121008698C>T ENST00000392793.1 + 11 3781 c.3510C>T c.(3508-3510)atC>atT p.I1170I TECTA_ENST00000264037.2_Silent_p.I1170I O75443 TECTA_HUMAN tectorin alpha 1170 VWFD 3. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) GCTACAGCATCGTGATCCACC 0.562000 10 23 0 0 0.000673444 0 0 RNF133 168433 broad.mit.edu 37 7 122338165 122338165 + Missense_Mutation SNP G G A rs113296018 byFrequency TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr7:122338165G>A ENST00000340112.2 - 1 1045 c.808C>T c.(808-810)Cgt>Tgt p.R270C CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000313070.7_Intron NM_139175.1 NP_631914.1 Q8WVZ7 RN133_HUMAN ring finger protein 133 270 endoplasmic reticulum membrane|integral to membrane ligase activity|zinc ion binding NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 21 GTCAGAATACGAACTATGTCA 0.388000 66 83 0 0 0.000781405 0 0 KANSL3 55683 broad.mit.edu 37 2 97270077 97270077 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr2:97270077G>A ENST00000599854.1 - 17 2265 c.1798C>T c.(1798-1800)Cct>Tct p.P600S KANSL3_ENST00000431828.1_Missense_Mutation_p.P687S|KANSL3_ENST00000441706.2_Intron|KANSL3_ENST00000440133.1_Missense_Mutation_p.P507S|KANSL3_ENST00000487070.1_5'UTR NM_001115016.2 NP_001108488.1 Q9P2N6 K1310_HUMAN KAT8 regulatory NSL complex subunit 3 713 ACCACTGAAGGGACTGGGCTG 0.582000 5 41 0 0 0.00116845 0 0 ASTN1 460 broad.mit.edu 37 1 176852083 176852083 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:176852083G>A ENST00000367654.2 - 20 3311 c.3298C>T c.(3298-3300)Cct>Tct p.P1100S ASTN1_ENST00000367657.3_Missense_Mutation_p.P1092S|ASTN1_ENST00000361833.2_Missense_Mutation_p.P1092S|ASTN1_ENST00000424564.2_Missense_Mutation_p.P1092S O14525 ASTN1_HUMAN astrotactin 1 1100 Fibronectin type-III 1. cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 ATTGCACAAGGAGACTTTGCT 0.493000 22 99 0 0 0.00229938 0 0 ARHGAP24 83478 broad.mit.edu 37 4 86916055 86916055 + Silent SNP C C A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr4:86916055C>A ENST00000395184.1 + 9 1714 c.1248C>A c.(1246-1248)ccC>ccA p.P416P ARHGAP24_ENST00000264343.4_Silent_p.P323P|ARHGAP24_ENST00000395183.2_Silent_p.P321P NM_001025616.2 NP_001020787.2 Q8N264 RHG24_HUMAN Rho GTPase activating protein 24 416 angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell projection|cytoskeleton|cytosol|focal adhesion GTPase activator activity|protein binding breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1) 24 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.000571) CTAGAAGCCCCCCTCTCATGG 0.478000 6 161 0.00116845 0.00566261 0.00116845 1 0 OR5F1 338674 broad.mit.edu 37 11 55761196 55761196 + Silent SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr11:55761196C>T ENST00000278409.1 - 1 905 c.906G>A c.(904-906)gcG>gcA p.A302A NM_003697.1 NP_003688.1 O95221 OR5F1_HUMAN olfactory receptor, family 5, subfamily F, member 1 302 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 58 Esophageal squamous(21;0.00448) TAATTACATTCGCTAAAGCCT 0.383000 11 21 0 0 0.00136819 0 0 VIL1 7429 broad.mit.edu 37 2 219301212 219301212 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr2:219301212G>A ENST00000248444.5 + 16 1922 c.1834G>A c.(1834-1836)Gaa>Aaa p.E612K VIL1_ENST00000392114.2_Missense_Mutation_p.E301K NM_007127.2 NP_009058.2 P09327 VILI_HUMAN villin 1 612 Core. actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Renal(207;0.0474) Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CAGACTACAGGAAGAAAACCT 0.512000 62 143 0 0 0.000781405 0 0 PTPRK 5796 broad.mit.edu 37 6 128294914 128294914 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr6:128294914C>T ENST00000368227.3 - 29 4445 c.4079G>A c.(4078-4080)cGa>cAa p.R1360Q PTPRK_ENST00000368215.3_Missense_Mutation_p.R1342Q|PTPRK_ENST00000368213.5_Missense_Mutation_p.R1349Q|PTPRK_ENST00000368226.4_Missense_Mutation_p.R1343Q|PTPRK_ENST00000532331.1_Missense_Mutation_p.R1365Q|PTPRK_ENST00000368207.3_Missense_Mutation_p.R1375Q|PTPRK_ENST00000368210.3_Missense_Mutation_p.R1361Q Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 1342 Tyrosine-protein phosphatase 2. 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) AGGCACTTCTCGATGAGAAGC 0.478000 21 65 0 0 0.00152264 0 0 AOAH 313 broad.mit.edu 37 7 36570058 36570058 + Silent SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr7:36570058G>A ENST00000431169.1 - 19 1788 c.1488C>T c.(1486-1488)ttC>ttT p.F496F AOAH_ENST00000538464.1_Silent_p.F218F|AOAH_ENST00000535891.1_Silent_p.F464F|AOAH_ENST00000258749.5_Silent_p.F496F|AOAH_ENST00000491444.1_5'UTR NM_001177506.1 NP_001170977.1 P28039 AOAH_HUMAN acyloxyacyl hydrolase (neutrophil) 496 inflammatory response|lipid metabolic process extracellular region acyloxyacyl hydrolase activity|lipoprotein lipase activity NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 41 AGAAAAGATTGAAGTTTGTAA 0.403000 19 41 0 0 0.00152264 0 0 DOCK11 139818 broad.mit.edu 37 X 117739215 117739215 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chrX:117739215G>A ENST00000276204.6 + 24 2651 c.2577G>A c.(2575-2577)atG>atA p.M859I DOCK11_ENST00000276202.7_Missense_Mutation_p.M859I Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 859 DHR-1. blood coagulation cytosol GTP binding breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 84 TGCATGCCATGGAGATCCAAG 0.328000 17 130 0 0 0.00074312 0 0 SYNGR4 23546 broad.mit.edu 37 19 48879000 48879000 + Silent SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr19:48879000C>T ENST00000344846.2 + 4 712 c.462C>T c.(460-462)atC>atT p.I154I SYNGR4_ENST00000601610.1_Silent_p.I105I|SYNGR4_ENST00000595322.1_Intron NM_012451.3 NP_036583.2 O95473 SNG4_HUMAN synaptogyrin 4 154 MARVEL. integral to membrane breast(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1) 10 all_epithelial(76;5.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|Prostate(7;0.0143)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146) TCTTCTCCATCCTTGTCTGGG 0.602000 17 47 0 0 0.00121646 0 0 LILRA5 353514 broad.mit.edu 37 19 54822811 54822811 + Silent SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr19:54822811G>A ENST00000301219.3 - 5 704 c.585C>T c.(583-585)ttC>ttT p.F195F AC008984.2_ENST00000507363.1_RNA|LILRA5_ENST00000346508.3_Silent_p.F183F|LILRA5_ENST00000432233.3_Silent_p.F195F|LILRA5_ENST00000446712.3_Silent_p.F183F NM_021250.2 NP_067073.1 A6NI73 LIRA5_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5 195 Ig-like C2-type 2. innate immune response extracellular region|integral to membrane receptor activity breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 20 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) ACAGGGCCTGGAACTGCCCAC 0.592000 8 33 0 0 0.000274275 0 0 SNCAIP 9627 broad.mit.edu 37 5 121759022 121759022 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr5:121759022C>T ENST00000261367.7 + 6 2159 c.731C>T c.(730-732)tCt>tTt p.S244F SNCAIP_ENST00000504884.2_Intron|SNCAIP_ENST00000503116.2_Missense_Mutation_p.S244F|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000379533.2_Missense_Mutation_p.S244F|SNCAIP_ENST00000261368.8_Missense_Mutation_p.S197F|SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000379536.2_Missense_Mutation_p.S197F Q9Y6H5 SNCAP_HUMAN synuclein, alpha interacting protein 197 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 39 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) ACAGGAAGTTCTGAGAGCTCA 0.463000 45 53 0 0 0.0025221 0 0 ATM 472 broad.mit.edu 37 11 108213955 108213955 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr11:108213955C>T ENST00000278616.4 + 57 8660 c.8275C>T c.(8275-8277)Ccc>Tcc p.P2759S C11orf65_ENST00000526725.1_Intron|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000452508.2_Missense_Mutation_p.P2759S NM_000051.3 NP_000042.3 Q13315 ATM_HUMAN ataxia telangiectasia mutated 2759 PI3K/PI4K. cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) CCAGGTGGTTCCCCTCTCTCA 0.388000 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 44 70 0 0 0.000781405 0 0 MUC16 94025 broad.mit.edu 37 19 9091671 9091671 + Silent SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr19:9091671G>A ENST00000397910.4 - 1 347 c.144C>T c.(142-144)atC>atT p.I48I NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 48 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 CTGTCACCACGATTGCACCTG 0.517000 14 36 0 0 0.00244969 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 45 45 0 0 0.000781405 0 0 PUF60 22827 broad.mit.edu 37 8 144898899 144898899 + Missense_Mutation SNP C C A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr8:144898899C>A ENST00000526683.1 - 12 2026 c.1471G>T c.(1471-1473)Ggg>Tgg p.G491W PUF60_ENST00000527197.1_Missense_Mutation_p.G445W|PUF60_ENST00000456095.2_Missense_Mutation_p.G462W|PUF60_ENST00000453551.2_Missense_Mutation_p.G448W|PUF60_ENST00000313352.7_Missense_Mutation_p.G431W|PUF60_ENST00000349157.6_Missense_Mutation_p.G474W NM_001271098.1|NM_078480.1 NP_001258027.1|NP_510965.1 Q9UHX1 PUF60_HUMAN poly-U binding splicing factor 60KDa 491 Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.|RRM 3; atypical. apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent nucleus|ribonucleoprotein complex DNA binding|nucleotide binding|protein binding|RNA binding p.G491W(1) NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2) 14 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) TTCACGGCCCCGAACTTGCCA 0.527000 6 201 0.00198382 0.00948867 0.00198382 1 0 CD180 4064 broad.mit.edu 37 5 66479863 66479863 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr5:66479863C>T ENST00000256447.4 - 3 965 c.808G>A c.(808-810)Gga>Aga p.G270R NM_005582.2 NP_005573.2 Q99467 CD180_HUMAN CD180 molecule 270 inflammatory response|innate immune response integral to membrane|plasma membrane receptor activity cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2) 34 Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234) Lung(70;0.0046) TCACAGAGTCCCTTGAGCATG 0.453000 14 19 0 0 0.000566183 0 0 OR10H5 284433 broad.mit.edu 37 19 15905608 15905608 + Silent SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr19:15905608C>T ENST00000308940.8 + 1 848 c.750C>T c.(748-750)gtC>gtT p.V250V NM_001004466.1 NP_001004466.1 Q8NGA6 O10H5_HUMAN olfactory receptor, family 10, subfamily H, member 5 250 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1) 20 CTGTGGTGGTCGTGCACTATG 0.562000 6 20 0 0 0.000274275 0 0 CHTF8 54921 broad.mit.edu 37 16 69154547 69154547 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr16:69154547G>A ENST00000519520.1 - 3 164 c.29C>T c.(28-30)tCc>tTc p.S10F CHTF8_ENST00000520529.1_Missense_Mutation_p.S10F|CHTF8_ENST00000518041.1_Intron|CHTF8_ENST00000306585.6_5'UTR|CHTF8_ENST00000523421.1_Intron|CHTF8_ENST00000448552.2_Silent_p.I49I|CHTF8_ENST00000398235.2_Silent_p.I49I|CHTF8_ENST00000522091.1_3'UTR P0CG13 CTF8_HUMAN CTF8, chromosome transmission fidelity factor 8 homolog (S. cerevisiae) 0 cell cycle|DNA replication nucleus DNA binding TCAGCACAGGGATTCCCTTTG 0.527000 19 39 0 0 0.00229938 0 0 DSG3 1830 broad.mit.edu 37 18 29046579 29046579 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr18:29046579G>A ENST00000257189.4 + 11 1581 c.1498G>A c.(1498-1500)Gat>Aat p.D500N NM_001944.2 NP_001935.2 P32926 DSG3_HUMAN desmoglein 3 500 cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) CCTCGAAAAAGATGCAGTTTG 0.428000 40 100 0 0 0.00128727 0 0 SYNJ1 8867 broad.mit.edu 37 21 34072313 34072313 + Missense_Mutation SNP G G A rs146507597 TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr21:34072313G>A ENST00000382499.2 - 4 430 c.431C>T c.(430-432)tCa>tTa p.S144L SYNJ1_ENST00000433931.2_Missense_Mutation_p.S144L|SYNJ1_ENST00000382491.3_Missense_Mutation_p.S105L|SYNJ1_ENST00000357345.3_Missense_Mutation_p.S105L|SYNJ1_ENST00000322229.7_Missense_Mutation_p.S105L NM_203446.2 NP_982271.2 O43426 SYNJ1_HUMAN synaptojanin 1 105 SAC. inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 57 GATTCGCAGTGATATAAACTC 0.383000 20 27 0 0 0.000958276 0 0 TBX15 6913 broad.mit.edu 37 1 119466105 119466105 + Missense_Mutation SNP A A T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:119466105A>T ENST00000369429.3 - 5 824 c.815T>A c.(814-816)tTt>tAt p.F272Y TBX15_ENST00000207157.3_Missense_Mutation_p.F166Y Q96SF7 TBX15_HUMAN T-box 15 272 nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5) 37 all_neural(166;0.117) all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237) Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141) AGTCTCAGGAAAGTTGAACGT 0.483000 18 32 0 0 0.00074312 0 0 GOLGA6A 342096 broad.mit.edu 37 15 74368313 74368313 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr15:74368313C>T ENST00000290438.3 - 8 618 c.578G>A c.(577-579)aGa>aAa p.R193K NM_001038640.2 NP_001033729.2 Q9NYA3 GOG6A_HUMAN golgin A6 family, member A 193 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1) 16 GACCGCTTCTCTGCAGCTCGA 0.562000 21 103 0 0 0.000586117 0 0 TREML2 79865 broad.mit.edu 37 6 41162268 41162268 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr6:41162268G>A ENST00000483722.1 - 3 865 c.680C>T c.(679-681)tCc>tTc p.S227F NM_024807.2 NP_079083.2 Q5T2D2 TRML2_HUMAN triggering receptor expressed on myeloid cells-like 2 227 T cell activation cell surface|integral to membrane|plasma membrane protein binding|receptor activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1) 18 Ovarian(28;0.0418)|Colorectal(47;0.196) AGTGGAGATGGATTCTGGGCC 0.627000 9 17 0 0 0.000442599 0 0 TNXB 7148 broad.mit.edu 37 6 32013006 32013006 + Silent SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr6:32013006G>A ENST00000375244.3 - 32 10905 c.10704C>T c.(10702-10704)acC>acT p.T3568T TNXB_ENST00000375247.2_Silent_p.T3566T|TNXB_ENST00000451343.1_5'UTR P22105 TENX_HUMAN tenascin XB 3613 Fibronectin type-III 27. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 TGGAGTCTGGGGTTGTGTCGG 0.652000 46 281 0 0 0.000781405 0 0 ZNF215 7762 broad.mit.edu 37 11 6977047 6977047 + Nonsense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr11:6977047G>A ENST00000278319.5 + 7 1427 c.839G>A c.(838-840)tGg>tAg p.W280* ZNF215_ENST00000414517.2_Nonsense_Mutation_p.W280*|ZNF215_ENST00000527171.1_3'UTR|ZNF215_ENST00000529903.1_Intron NM_013250.2 NP_037382.2 Q9UL58 ZN215_HUMAN zinc finger protein 215 280 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4) 32 Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134) CAGAAAAAATGGGACATAAAT 0.378000 37 60 0 0 0.00111076 0 0 EPS15L1 58513 broad.mit.edu 37 19 16488050 16488050 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr19:16488050G>A ENST00000455140.2 - 22 2329 c.2263C>T c.(2263-2265)Cct>Tct p.P755S EPS15L1_ENST00000248070.6_Missense_Mutation_p.P755S|EPS15L1_ENST00000535753.2_Intron|EPS15L1_ENST00000594975.1_Intron NM_001258374.1 NP_001245303.1 Q9UBC2 EP15R_HUMAN epidermal growth factor receptor pathway substrate 15-like 1 755 15 X 3 AA repeats of D-P-F.|Pro-rich. endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|nucleus|plasma membrane calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2) 30 GAGGTGAAAGGGCCAGAAGGT 0.512000 OREG0025332 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 81 0 0 0.00121646 0 0 DDX53 168400 broad.mit.edu 37 X 23018769 23018769 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chrX:23018769G>A ENST00000327968.5 + 1 683 c.595G>A c.(595-597)Gaa>Aaa p.E199K RP11-40F8.2_ENST00000455399.1_RNA NM_182699.3 NP_874358.2 Q86TM3 DDX53_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 199 nucleus ATP binding|ATP-dependent helicase activity|RNA binding breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 35 CTGGAGAAAGGAAAATTTCAA 0.388000 36 86 0 0 0.00148497 0 0 FRMPD2 143162 broad.mit.edu 37 10 49386119 49386119 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr10:49386119C>T ENST00000374201.3 - 22 3168 c.2866G>A c.(2866-2868)Gaa>Aaa p.E956K FRMPD2_ENST00000407470.4_Missense_Mutation_p.E924K|FRMPD2_ENST00000463706.1_5'UTR|FRMPD2_ENST00000305531.3_Missense_Mutation_p.E931K NM_001018071.3 NP_001018081.3 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 956 PDZ 2. tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 66 Kidney(211;0.201) GTCCCATCTTCTTTAACCAGT 0.428000 5 15 0 0 0.000274275 0 0 CR2 1380 broad.mit.edu 37 1 207643060 207643060 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:207643060C>T ENST00000367057.3 + 6 1027 c.838C>T c.(838-840)Ccc>Tcc p.P280S CR2_ENST00000367059.3_Missense_Mutation_p.P280S|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000367058.3_Missense_Mutation_p.P280S|CR2_ENST00000458541.2_Missense_Mutation_p.P280S NM_001006658.2 NP_001006659.1 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) receptor 2 280 Sushi 5. complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1) 69 CCCATCACCTCCCCCTATTCT 0.433000 15 71 0 0 0.000566183 0 0 ANK2 287 broad.mit.edu 37 4 114275410 114275410 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr4:114275410C>T ENST00000357077.4 + 38 5689 c.5636C>T c.(5635-5637)tCa>tTa p.S1879L ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.S1846L|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 1846 Repeat-rich region. 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) GAGAAACACTCACCTGTATCA 0.443000 48 102 0 0 0.000781405 0 0 PDE4DIP 9659 broad.mit.edu 37 1 145075723 145075723 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:145075723G>A ENST00000369359.4 - 1 178 c.140C>T c.(139-141)cCg>cTg p.P47L PDE4DIP_ENST00000369348.3_Missense_Mutation_p.P47L|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.P47L|PDE4DIP_ENST00000369345.4_Missense_Mutation_p.P47L Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 0 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) TTCCCGGCTCGGGGTCTGCCG 0.716000 T PDGFRB MPD 10 99 0 0 0.000673444 0 0 PEG3 5178 broad.mit.edu 37 19 57335917 57335917 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr19:57335917C>T ENST00000326441.9 - 4 470 c.107G>A c.(106-108)gGa>gAa p.G36E PEG3_ENST00000593695.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.G36E|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000598410.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000594706.1_Intron NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 36 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) TGGACCTTCTCCTATGATGAC 0.478000 23 50 0 0 0.00188189 0 0 LTBP4 8425 broad.mit.edu 37 19 41132981 41132981 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr19:41132981C>T ENST00000308370.7 + 32 4285 c.4285C>T c.(4285-4287)Cca>Tca p.P1429S LTBP4_ENST00000243562.9_3'UTR|LTBP4_ENST00000545697.1_Missense_Mutation_p.P797S|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000396819.3_Missense_Mutation_p.P1362S|LTBP4_ENST00000204005.9_Missense_Mutation_p.P1392S NM_001042544.1 NP_001036009.1 Q8N2S1 LTBP4_HUMAN latent transforming growth factor beta binding protein 4 1430 Pro-rich. growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity central_nervous_system(1) 1 Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384) AGACTTAGGTCCACCTTACCA 0.657000 7 13 0 0 0.00198382 0 0 ZNF75D 7626 broad.mit.edu 37 X 134426375 134426375 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chrX:134426375C>T ENST00000370766.3 - 4 3145 c.436G>A c.(436-438)Gag>Aag p.E146K ZNF75D_ENST00000370764.1_Intron|ZNF75D_ENST00000494295.1_Intron NM_007131.3 NP_009062.2 P51815 ZN75D_HUMAN zinc finger protein 75D 146 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 AGCACTGCCTCCTTTCCCAGC 0.512000 13 75 0 0 0.000566183 0 0 SIGIRR 59307 broad.mit.edu 37 11 408110 408110 + Silent SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr11:408110C>T ENST00000431843.2 - 4 609 c.303G>A c.(301-303)caG>caA p.Q101Q SIGIRR_ENST00000531205.1_Silent_p.Q101Q|SIGIRR_ENST00000529486.1_5'UTR|SIGIRR_ENST00000397632.3_Silent_p.Q101Q|SIGIRR_ENST00000382520.2_Silent_p.Q101Q|SIGIRR_ENST00000332725.3_Silent_p.Q101Q NM_001135054.1 NP_001128526.1 Q6IA17 SIGIR_HUMAN single immunoglobulin and toll-interleukin 1 receptor (TIR) domain 101 Ig-like C2-type. acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity integral to membrane protein binding|transmembrane receptor activity cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1) 13 all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703) AGCTGATGTTCTGGATGGAGC 0.582000 14 76 0 0 0.000308642 0 0 MYO5B 4645 broad.mit.edu 37 18 47402197 47402197 + Splice_Site SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr18:47402197C>T ENST00000285039.7 - 26 3696 c.3396_splice c.e26-1 p.E1133_splice MYO5B_ENST00000587895.1_5'UTR|MYO5B_ENST00000324581.6_Splice_Site_p.E274_splice NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 1133 protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) AGGCCAATTTCCTTCAAAGGA 0.498000 23 74 0 0 0.000720815 0 0 HRH4 59340 broad.mit.edu 37 18 22056862 22056862 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr18:22056862C>T ENST00000256906.4 + 3 609 c.509C>T c.(508-510)tCg>tTg p.S170L HRH4_ENST00000426880.2_Missense_Mutation_p.S82L NM_001160166.1|NM_021624.3 NP_001153638.1|NP_067637.2 Q9H3N8 HRH4_HUMAN histamine receptor H4 170 integral to membrane|plasma membrane histamine receptor activity endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991) Clozapine(DB00363) GGATTTTTTTCGGAATGGTAC 0.433000 33 93 0 0 0.000692331 0 0 DISP1 84976 broad.mit.edu 37 1 223178084 223178084 + Silent SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:223178084C>T ENST00000284476.6 + 8 3509 c.3345C>T c.(3343-3345)atC>atT p.I1115I NM_032890.3 NP_116279.2 Q96F81 DISP1_HUMAN dispatched homolog 1 (Drosophila) 1115 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) TGATGCTCATCATGTGTATCA 0.542000 385 447 0 0 0.000781405 0 0 UNC13C 440279 broad.mit.edu 37 15 54792317 54792317 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr15:54792317G>A ENST00000545554.1 + 20 5101 c.5101G>A c.(5101-5103)Gaa>Aaa p.E1701K UNC13C_ENST00000260323.11_Missense_Mutation_p.E1701K|UNC13C_ENST00000537900.1_Missense_Mutation_p.E1699K Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 1701 MHD1. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) AGATGAAAACGAAGATGTGTC 0.348000 10 25 0 0 0.00244969 0 0 SLC34A2 10568 broad.mit.edu 37 4 25678062 25678062 + Silent SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr4:25678062G>A ENST00000382051.3 + 13 1814 c.1764G>A c.(1762-1764)caG>caA p.Q588Q SLC34A2_ENST00000504570.1_Silent_p.Q587Q|SLC34A2_ENST00000503434.1_Silent_p.Q587Q NM_001177998.1|NM_006424.2 NP_001171469.1|NP_006415.2 O95436 NPT2B_HUMAN solute carrier family 34 (type II sodium/phosphate contransporter), member 2 588 cellular phosphate ion homeostasis apical plasma membrane|brush border membrane|integral to plasma membrane phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity SLC34A2/ROS1(14) breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4) 41 Breast(46;0.0503) AGAAACTCCAGAACTGGAACT 0.612000 T ROS1 NSCLC 38 91 0 0 0.0025221 0 0 PLCB1 23236 broad.mit.edu 37 20 8717789 8717789 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr20:8717789G>A ENST00000378641.3 + 20 2633 c.2158G>A c.(2158-2160)Gga>Aga p.G720R PLCB1_ENST00000378637.2_Missense_Mutation_p.G720R|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000338037.6_Missense_Mutation_p.G720R NM_182734.1 NP_877398.1 Q9NQ66 PLCB1_HUMAN phospholipase C, beta 1 (phosphoinositide-specific) 720 C2. activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95 AACATCCCAAGGAAATGCTGT 0.388000 20 56 0 0 0.00188189 0 0 PAK6 56924 broad.mit.edu 37 15 40557141 40557141 + Missense_Mutation SNP C C T rs146905959 TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr15:40557141C>T ENST00000455577.2 + 4 1067 c.155C>T c.(154-156)cCc>cTc p.P52L PAK6_ENST00000441369.1_Missense_Mutation_p.P52L|PAK6_ENST00000260404.4_Missense_Mutation_p.P52L|PAK6_ENST00000542403.2_Missense_Mutation_p.P52L|RP11-133K1.2_ENST00000558658.1_Missense_Mutation_p.P146S|PAK6_ENST00000453867.1_Missense_Mutation_p.P52L|PAK6_ENST00000560346.1_Missense_Mutation_p.P52L NM_001276718.1 NP_001263647.1 Q9NQU5 PAK6_HUMAN p21 protein (Cdc42/Rac)-activated kinase 6 52 Linker. ATP binding|protein binding|protein serine/threonine kinase activity p.P52L(1) breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2) 24 all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544) CGCCCCAAGCCCGTGGTGGAC 0.617000 19 40 0 0 0.00188189 0 0 DENND2A 27147 broad.mit.edu 37 7 140301538 140301538 + Silent SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr7:140301538C>T ENST00000275884.6 - 2 1077 c.660G>A c.(658-660)tcG>tcA p.S220S DENND2A_ENST00000537639.1_Silent_p.S220S|DENND2A_ENST00000492720.1_Silent_p.S220S|DENND2A_ENST00000496613.1_Silent_p.S220S Q9ULE3 DEN2A_HUMAN DENN/MADD domain containing 2A 220 breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Melanoma(164;0.00956) CTTCCAGGTCCGAGGGGTGGA 0.637000 69 78 0 0 0.000781405 0 0 TMED1 11018 broad.mit.edu 37 19 10943869 10943869 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr19:10943869C>T ENST00000591695.1 - 3 428 c.302G>A c.(301-303)gGa>gAa p.G101E TMED1_ENST00000214869.2_Silent_p.R162R|TMED1_ENST00000588289.1_Silent_p.R17R Q13445 TMED1_HUMAN transmembrane emp24 protein transport domain containing 1 0 GOLD. cell-cell signaling|signal transduction|transport integral to membrane|plasma membrane receptor binding breast(1)|central_nervous_system(2)|lung(2)|ovary(3)|prostate(1)|skin(1) 10 CCAGCCGGGTCCGCATGGTCT 0.627000 6 7 0 0 0.00116845 0 0 TTN 7273 broad.mit.edu 37 2 179489390 179489390 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr2:179489390C>T ENST00000589042.1 - 242 44841 c.44617G>A c.(44617-44619)Gag>Aag p.E14873K TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E13232K|TTN_ENST00000359218.5_Missense_Mutation_p.E5933K|TTN_ENST00000460472.2_Missense_Mutation_p.E5808K|TTN_ENST00000342175.6_Missense_Mutation_p.E6000K|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E12305K NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 13232 Fibronectin type-III 7. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACTTCACACTCCAGCACTGCA 0.453000 31 58 0 0 0.001512 0 0 NLRP14 338323 broad.mit.edu 37 11 7063998 7063998 + Silent SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr11:7063998C>T ENST00000299481.4 + 4 1087 c.741C>T c.(739-741)atC>atT p.I247I NM_176822.3 NP_789792.1 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 247 NACHT. cell differentiation|multicellular organismal development|spermatogenesis ATP binding breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 21 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) TTGAAGAAATCATGTACCAGC 0.433000 19 53 0 0 0.00121646 0 0 SH3KBP1 30011 broad.mit.edu 37 X 19568112 19568112 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chrX:19568112G>A ENST00000397821.3 - 14 1764 c.1474C>T c.(1474-1476)Ccg>Tcg p.P492S SH3KBP1_ENST00000541422.1_Missense_Mutation_p.P231S|SH3KBP1_ENST00000379698.4_Missense_Mutation_p.P455S|SH3KBP1_ENST00000379716.1_Missense_Mutation_p.P254S NM_031892.2 NP_114098.1 Q96B97 SH3K1_HUMAN SH3-domain kinase binding protein 1 492 apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome SH3 domain binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4) 29 GACTGGGACGGAGGCCGCCTC 0.463000 26 165 0 0 0.00178596 0 0 SLC4A1 6521 broad.mit.edu 37 17 42336949 42336949 + Splice_Site SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr17:42336949C>T ENST00000262418.6 - 8 765 c.609_splice c.e8-1 p.G204_splice AC003043.1_ENST00000597382.1_Intron NM_000342.3 NP_000333.1 P02730 B3AT_HUMAN solute carrier family 4 (anion exchanger), member 1 204 bicarbonate transport|cellular ion homeostasis basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 40 Breast(137;0.014)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.115) CCCCCATCTCCCTGTGGGAAG 0.587000 7 26 0 0 0.000157383 0 0 DENND3 22898 broad.mit.edu 37 8 142204174 142204174 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr8:142204174G>A ENST00000519811.1 + 23 3749 c.3679G>A c.(3679-3681)Ggg>Agg p.G1227R DENND3_ENST00000523308.1_Missense_Mutation_p.G197R|DENND3_ENST00000424248.1_Missense_Mutation_p.G1095R|DENND3_ENST00000262585.2_Missense_Mutation_p.G1147R A2RUS2 DEND3_HUMAN DENN/MADD domain containing 3 1147 breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1) 55 all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.105) AACACCCAAGGGGAAAATCTA 0.627000 21 62 0 0 0.00047179 0 0 FAM47E-STBD1 100631383 broad.mit.edu 37 4 77231024 77231024 + Missense_Mutation SNP T T G TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr4:77231024T>G ENST00000237642.6 + 2 1692 c.948T>G c.(946-948)gaT>gaG p.D316E FAM47E_ENST00000515604.1_3'UTR|FAM47E-STBD1_ENST00000539752.1_Missense_Mutation_p.D167E NM_003943.4 NP_003934.1 TGCCTGCAGATACAGTGGTGG 0.473000 17 73 0 0 0.00074312 0 0 MROH7 374977 broad.mit.edu 37 1 55138821 55138821 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:55138821G>A ENST00000414150.2 + 8 1935 c.1657G>A c.(1657-1659)Gag>Aag p.E553K MROH7_ENST00000545244.1_Missense_Mutation_p.E121K|MROH7_ENST00000421030.2_Missense_Mutation_p.E553K|MROH7_ENST00000454855.2_Missense_Mutation_p.E71K|MROH7_ENST00000409996.1_Missense_Mutation_p.E121K|MROH7_ENST00000395690.2_Missense_Mutation_p.E553K|MROH7_ENST00000339553.5_Missense_Mutation_p.E553K maestro heat-like repeat family member 7 CCTCTTTATCGAGGACCCCAC 0.592000 18 30 0 0 0.00152264 0 0 SORL1 6653 broad.mit.edu 37 11 121424794 121424794 + Silent SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr11:121424794C>T ENST00000260197.7 + 17 2544 c.2415C>T c.(2413-2415)tcC>tcT p.S805S NM_003105.5 NP_003096.1 Q92673 SORL_HUMAN sortilin-related receptor, L(DLR class) A repeats containing 805 cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) TGTATTGGTCCGACCTGGCCT 0.587000 16 17 0 0 0.000566183 0 0 RFX2 5990 broad.mit.edu 37 19 6040210 6040210 + Silent SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr19:6040210G>A ENST00000303657.5 - 5 452 c.303C>T c.(301-303)gcC>gcT p.A101A RFX2_ENST00000359161.3_Silent_p.A101A|RFX2_ENST00000592546.1_Silent_p.A101A NM_000635.3 NP_000626.2 P48378 RFX2_HUMAN regulatory factor X, 2 (influences HLA class II expression) 101 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 21 TGCTGCTGGGGGCGTACATCT 0.612000 29 81 0 0 0.00178596 0 0 ZNF732 654254 broad.mit.edu 37 4 289909 289909 + Silent SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr4:289909G>A ENST00000419098.1 - 2 49 c.39C>T c.(37-39)ttC>ttT p.F13F NM_001137608.1 NP_001131080.1 B4DXR9 ZN732_HUMAN zinc finger protein 732 13 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|lung(2) 3 CTTCTGGAGAGAATTCTATGG 0.418000 10 36 0 0 0.000978159 0 0 FOXF1 2294 broad.mit.edu 37 16 86544358 86544358 + Silent SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr16:86544358C>T ENST00000262426.4 + 1 226 c.183C>T c.(181-183)atC>atT p.I61I NM_001451.2 NP_001442.2 Q12946 FOXF1_HUMAN forkhead box F1 61 branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1) 12 TCATGGCCATCCAGAGTTCAC 0.642000 12 28 0 0 0.00185496 0 0 FAAH2 158584 broad.mit.edu 37 X 57318998 57318998 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chrX:57318998G>A ENST00000374900.4 + 2 380 c.260G>A c.(259-261)gGa>gAa p.G87E NM_174912.3 NP_777572.2 Q6GMR7 FAAH2_HUMAN fatty acid amide hydrolase 2 87 integral to membrane carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3) 22 ATGATCAATGGAATTGTCAAG 0.393000 HNSCC(52;0.14) 33 41 0 0 0.00209593 0 0 HEPH 9843 broad.mit.edu 37 X 65412096 65412096 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chrX:65412096G>A ENST00000519389.1 + 7 1529 c.1350G>A c.(1348-1350)atG>atA p.M450I HEPH_ENST00000336279.5_Missense_Mutation_p.M129I|HEPH_ENST00000343002.2_Missense_Mutation_p.M396I|HEPH_ENST00000374727.3_Missense_Mutation_p.M399I|HEPH_ENST00000419594.1_Missense_Mutation_p.M399I|HEPH_ENST00000441993.2_Missense_Mutation_p.M399I Q9BQS7 HEPH_HUMAN hephaestin 396 Plastocyanin-like 3. cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity p.M396I(2) endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 ATGGCCCGATGGGGCATGATG 0.507000 14 36 0 0 0.00074312 0 0 VSTM1 284415 broad.mit.edu 37 19 54561647 54561647 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr19:54561647C>T ENST00000338372.2 - 3 443 c.268G>A c.(268-270)Gat>Aat p.D90N VSTM1_ENST00000376626.1_Missense_Mutation_p.D90N|VSTM1_ENST00000366170.2_Intron|VSTM1_ENST00000425006.2_Missense_Mutation_p.D90N NM_198481.3 NP_940883.2 Q6UX27 VSTM1_HUMAN V-set and transmembrane domain containing 1 90 Ig-like V-type. integral to membrane breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.165) CTCCCAGCATCCTTAGGCTTC 0.532000 21 92 0 0 0.00152264 0 0 CD163L1 283316 broad.mit.edu 37 12 7531810 7531810 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr12:7531810C>T ENST00000313599.3 - 9 2192 c.2135G>A c.(2134-2136)gGa>gAa p.G712E CD163L1_ENST00000396630.1_Missense_Mutation_p.G712E|CD163L1_ENST00000416109.2_Missense_Mutation_p.G722E|CD163L1_ENST00000544331.1_Intron Q9NR16 C163B_HUMAN CD163 molecule-like 1 712 SRCR 7. extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 ACACAGAATTCCCACGGCACC 0.502000 27 49 0 0 0.00106085 0 0 OR5B3 441608 broad.mit.edu 37 11 58170745 58170745 + Silent SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr11:58170745C>T ENST00000309403.2 - 1 137 c.138G>A c.(136-138)ttG>ttA p.L46L NM_001005469.1 NP_001005469.1 Q8NH48 OR5B3_HUMAN olfactory receptor, family 5, subfamily B, member 3 46 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1) 34 Esophageal squamous(5;0.0027) Breast(21;0.0778) CCCAGAATATCAATACAATAA 0.418000 23 29 0 0 0.000720815 0 0 ABCC1 4363 broad.mit.edu 37 16 16215894 16215894 + Silent SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr16:16215894C>T ENST00000399408.2 + 25 3658 c.3483C>T c.(3481-3483)gtC>gtT p.V1161V ABCC1_ENST00000349029.5_Silent_p.V1036V|ABCC1_ENST00000351154.5_Silent_p.V1092V|ABCC1_ENST00000399410.3_Silent_p.V1151V|ABCC1_ENST00000345148.5_Silent_p.V1151V|ABCC1_ENST00000346370.5_Silent_p.V1095V P33527 MRP1_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 1 1151 ABC transmembrane type-1 2. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3) 56 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) GCTCCCCGGTCTATTCCCATT 0.597000 13 41 0 0 0.00136819 0 0 KRT6A 3853 broad.mit.edu 37 12 52881529 52881529 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr12:52881529G>A ENST00000330722.6 - 9 1738 c.1670C>T c.(1669-1671)tCc>tTc p.S557F NM_005554.3 NP_005545.1 P02538 K2C6A_HUMAN keratin 6A 557 Tail. cell differentiation|ectoderm development|positive regulation of cell proliferation keratin filament protein binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 39 BRCA - Breast invasive adenocarcinoma(357;0.189) CTTCCTGCTGGAGGAGGAGGT 0.602000 22 56 0 0 0.00127121 0 0 DLG1 1739 broad.mit.edu 37 3 196792579 196792579 + Splice_Site SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr3:196792579G>A ENST00000346964.2 - 22 2488 c.2299_splice c.e22+1 p.H767_splice DLG1_ENST00000452595.1_Splice_Site_p.H629_splice|DLG1_ENST00000314062.3_Splice_Site_p.H694_splice|DLG1_ENST00000450955.1_Splice_Site_p.H734_splice|DLG1_ENST00000448528.2_Splice_Site_p.H745_splice|DLG1_ENST00000357674.4_Splice_Site_p.H734_splice|DLG1_ENST00000443183.1_Splice_Site_p.H641_splice|DLG1_ENST00000422288.1_Splice_Site_p.H694_splice|DLG1_ENST00000392382.2_Splice_Site_p.H712_splice|DLG1_ENST00000419354.1_Splice_Site_p.H745_splice NM_004087.2 NP_004078.2 Q12959 DLG1_HUMAN discs, large homolog 1 (Drosophila) 745 Guanylate kinase-like. actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 26 all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589) Lung NSC(153;0.133) Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.0148) GTTTACTTACGAGGAACACAG 0.328000 18 32 0 0 0.00121646 0 0 MET 4233 broad.mit.edu 37 7 116409818 116409818 + Silent SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr7:116409818G>A ENST00000397752.3 + 12 2903 c.2703G>A c.(2701-2703)ctG>ctA p.L901L MET_ENST00000318493.6_Silent_p.L919L NM_000245.2|NM_001127500.1 NP_000236.2|NP_001120972.1 P08581 MET_HUMAN met proto-oncogene 901 axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3) 233 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) ATGACCTGCTGAAATTGAACA 0.383000 Mis """papillary renal, head-neck squamous cell """ papillary renal Hereditary Papillary Renal Carcinoma (type 1) 34 56 0 0 0.000953801 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144852490 144852490 + Silent SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:144852490G>A ENST00000369359.4 - 47 7455 c.7417C>T c.(7417-7419)Cta>Tta p.L2473L PDE4DIP_ENST00000369354.3_Silent_p.L2337L|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000530740.1_Silent_p.L2422L|PDE4DIP_ENST00000313382.9_Silent_p.L2231L|PDE4DIP_ENST00000524974.1_5'UTR Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 2337 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) AGAGCCCTTAGGGATTTCACC 0.507000 T PDGFRB MPD 9 52 0 0 0.000673444 0 0 TMEM132B 114795 broad.mit.edu 37 12 126128723 126128723 + Silent SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr12:126128723C>T ENST00000299308.3 + 6 1532 c.1524C>T c.(1522-1524)ttC>ttT p.F508F TMEM132B_ENST00000535886.1_Silent_p.F20F NM_052907.2 NP_443139.2 Q14DG7 T132B_HUMAN transmembrane protein 132B 508 integral to membrane NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) CCTCCCAGTTCGAGGTCACTG 0.527000 26 42 0 0 0.00127121 0 0 TMPRSS13 84000 broad.mit.edu 37 11 117779432 117779432 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr11:117779432C>T ENST00000528626.1 - 8 1145 c.1072G>A c.(1072-1074)Gag>Aag p.E358K TMPRSS13_ENST00000526090.1_Missense_Mutation_p.E393K|TMPRSS13_ENST00000445164.2_Missense_Mutation_p.E393K|TMPRSS13_ENST00000430170.2_Missense_Mutation_p.E393K|TMPRSS13_ENST00000524993.1_Missense_Mutation_p.E393K NM_001206789.1 NP_001193718.1 Q9BYE2 TMPSD_HUMAN transmembrane protease, serine 13 388 Peptidase S1. proteolysis integral to membrane scavenger receptor activity|serine-type endopeptidase activity endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1) 20 all_hematologic(175;0.0487) Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106) GAGGCTGCCTCAGGCAACTGG 0.597000 4 18 0 0 0.00198382 0 0 HECW1 23072 broad.mit.edu 37 7 43484587 43484587 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr7:43484587G>A ENST00000395891.1 + 11 2421 c.1816G>A c.(1816-1818)Gtg>Atg p.V606M HECW1_ENST00000453890.1_Missense_Mutation_p.V606M NM_015052.3 NP_055867.3 Q76N89 HECW1_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 606 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3) 125 GGTGGACACGGTGGCCGCTGA 0.711000 9 14 0 0 0.000442599 0 0 OR4E2 26686 broad.mit.edu 37 14 22134212 22134212 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr14:22134212G>A ENST00000408935.1 + 1 916 c.916G>A c.(916-918)Gtt>Att p.V306I NM_001001912.1 NP_001001912.1 Q8NGC2 OR4E2_HUMAN olfactory receptor, family 4, subfamily E, member 2 306 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 15 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0137) GCAGAGACAAGTTTTTTTCAC 0.408000 5 8 0 0 0.000602214 0 0 PML 5371 broad.mit.edu 37 15 74337233 74337233 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr15:74337233G>A ENST00000565898.1 + 8 2473 c.2389G>A c.(2389-2391)Gct>Act p.A797T PML_ENST00000268058.3_Missense_Mutation_p.A845T P29590 PML_HUMAN promyelocytic leukemia 845 cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 31 CAACCTGCAGGCTCTGGGCAC 0.652000 T """RARA, PAX5""" """APL, ALL""" 29 55 0 0 0.001512 0 0 TAT 6898 broad.mit.edu 37 16 71610089 71610089 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr16:71610089G>A ENST00000355962.4 - 2 363 c.230C>T c.(229-231)tCc>tTc p.S77F RP11-432I5.1_ENST00000561529.1_RNA NM_000353.2 NP_000344.1 P17735 ATTY_HUMAN tyrosine aminotransferase 77 2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process cytosol 1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3) 29 Ovarian(137;0.125) Kidney(780;0.0157) L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114) CTCACCAATGGACAGGGAAAT 0.502000 7 16 0 0 0.00198382 0 0 TNFAIP1 7126 broad.mit.edu 37 17 26669304 26669304 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr17:26669304G>A ENST00000226225.2 + 6 817 c.550G>A c.(550-552)Gag>Aag p.E184K TNFAIP1_ENST00000544907.2_Missense_Mutation_p.E80K|TNFAIP1_ENST00000583213.1_3'UTR NM_021137.4 NP_066960.1 Q13829 BACD2_HUMAN tumor necrosis factor, alpha-induced protein 1 (endothelial) 184 apoptosis|cell migration|DNA replication|embryo development|immune response|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|endosome|nucleus|voltage-gated potassium channel complex GTP-Rho binding|voltage-gated potassium channel activity p.E184K(1) endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|prostate(1) 12 all_lung(13;0.000294)|Lung NSC(42;0.000964) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) GAAAAACATCGAGCTGTTTGA 0.542000 11 19 0 0 0.00244969 0 0 TLL1 7092 broad.mit.edu 37 4 166996071 166996071 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr4:166996071G>A ENST00000061240.2 + 17 2877 c.2230G>A c.(2230-2232)Gaa>Aaa p.E744K TLL1_ENST00000507499.1_Missense_Mutation_p.E767K NM_012464.4 NP_036596.3 O43897 TLL1_HUMAN tolloid-like 1 744 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) ATGTCAGCACGAATGTGTCAA 0.393000 23 65 0 0 0.00229938 0 0 ATP4A 495 broad.mit.edu 37 19 36046380 36046380 + Nonsense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr19:36046380G>A ENST00000262623.3 - 14 2147 c.2119C>T c.(2119-2121)Cag>Tag p.Q707* NM_000704.2 NP_000695.2 P20648 ATP4A_HUMAN ATPase, H+/K+ exchanging, alpha polypeptide 707 ATP biosynthetic process|ATP hydrolysis coupled proton transport integral to plasma membrane ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 53 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831) AGCTTCTGCTGGGGGCTGGTG 0.662000 13 20 0 0 0.00136819 0 0 ABCD3 5825 broad.mit.edu 37 1 94944087 94944087 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:94944087G>A ENST00000315713.5 + 9 692 c.692G>A c.(691-693)gGa>gAa p.G231E ABCD3_ENST00000536817.1_Intron|ABCD3_ENST00000370214.4_Intron|ABCD3_ENST00000454898.2_Intron|ABCD3_ENST00000394233.2_Intron NM_001122674.1 NP_001116146.1 P28288 ABCD3_HUMAN ATP-binding cassette, sub-family D (ALD), member 3 0 ABC transmembrane type-1. peroxisomal long-chain fatty acid import|peroxisome organization cytosol|integral to peroxisomal membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2) 26 all_lung(203;0.000434)|Lung NSC(277;0.0019) all cancers(265;0.0261)|Epithelial(280;0.165) TAGGTACTTGGAAAAATTTTG 0.363000 6 14 0 0 0.000157383 0 0 NRXN3 9369 broad.mit.edu 37 14 79432748 79432748 + Splice_Site SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr14:79432748G>A ENST00000554719.1 + 9 2148 c.1658_splice c.e9+1 p.G553_splice NRXN3_ENST00000335750.5_Splice_Site_p.G553_splice NM_004796.4 NP_004787.2 Q9HDB5 NRX3B_HUMAN neurexin 3 146 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) GCTTGTCAAGGGGTAAGTAGA 0.418000 28 48 0 0 0.00283554 0 0 SLC22A8 9376 broad.mit.edu 37 11 62760988 62760988 + Silent SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr11:62760988C>T ENST00000336232.2 - 10 1572 c.1437G>A c.(1435-1437)ggG>ggA p.G479G SLC22A8_ENST00000545207.1_Silent_p.G388G|SLC22A8_ENST00000535878.1_Silent_p.G356G|SLC22A8_ENST00000430500.2_Silent_p.G479G|SLC22A8_ENST00000311438.8_Silent_p.G479G NM_001184732.1|NM_001184736.1|NM_004254.3 NP_001171661.1|NP_001171665.1|NP_004245.2 Q8TCC7 S22A8_HUMAN solute carrier family 22 (organic anion transporter), member 8 479 YGI -> FTGS (in Ref. 1; AAD19357). response to toxin basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|organic anion transmembrane transporter activity endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 28 GGGCGGTGATCCCGTAGATGA 0.582000 11 54 0 0 0.00185496 0 0 METTL2B 55798 broad.mit.edu 37 7 128119282 128119282 + Silent SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr7:128119282G>A ENST00000480046.1 + 2 193 c.78G>A c.(76-78)aaG>aaA p.K26K METTL2B_ENST00000262432.8_Silent_p.K91K Q6P1Q9 MTL2B_HUMAN methyltransferase like 2B 91 methyltransferase activity breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 GGTTTTTCAAGGATAGACATT 0.348000 5 47 0 0 0.000157383 0 0 UGT2B4 7363 broad.mit.edu 37 4 70359494 70359494 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr4:70359494C>T ENST00000305107.6 - 2 833 c.787G>A c.(787-789)Gat>Aat p.D263N UGT2B4_ENST00000512583.1_Missense_Mutation_p.D263N|UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Missense_Mutation_p.D127N NM_021139.2 NP_066962.2 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B4 263 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 47 AATTGAAAATCCCAGTAGTTT 0.418000 19 60 0 0 0.00074312 0 0 HTR4 3360 broad.mit.edu 37 5 147929700 147929700 + Splice_Site SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr5:147929700C>T ENST00000360693.3 - 3 290 c.152_splice c.e3+1 p.R51_splice HTR4_ENST00000519495.1_5'UTR|HTR4_ENST00000377888.3_Splice_Site_p.R51_splice|HTR4_ENST00000520514.1_Splice_Site_p.R51_splice|HTR4_ENST00000521735.1_Splice_Site_p.R51_splice|HTR4_ENST00000314512.6_Splice_Site_p.R51_splice|HTR4_ENST00000521530.1_Splice_Site_p.R51_splice|HTR4_ENST00000354217.2_Splice_Site_p.R51_splice|HTR4_ENST00000517929.1_Splice_Site_p.R51_splice|HTR4_ENST00000362016.2_Splice_Site_p.R51_splice NM_001040173.2 NP_001035263.1 Q13639 5HT4R_HUMAN 5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled 51 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation endosome|integral to plasma membrane|membrane fraction serotonin receptor activity endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315) TGCTGCTCACCTGAGCTGCCT 0.502000 12 12 0 0 0.00136819 0 0 L1TD1 54596 broad.mit.edu 37 1 62675455 62675455 + Splice_Site SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:62675455G>A ENST00000498273.1 + 4 1304 c.1008_splice c.e4-1 p.D337_splice NM_001164835.1|NM_019079.4 NP_001158307.1|NP_061952.3 Q5T7N2 LITD1_HUMAN LINE-1 type transposase domain containing 1 337 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 35 TAACTTTCAGGATAAAACCCT 0.294000 15 50 0 0 0.00244969 0 0 IGF1R 3480 broad.mit.edu 37 15 99459195 99459195 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr15:99459195C>T ENST00000268035.6 + 9 2442 c.1831C>T c.(1831-1833)Cct>Tct p.P611S IGF1R_ENST00000558762.1_Missense_Mutation_p.P611S NM_000875.3 NP_000866.1 P08069 IGF1R_HUMAN insulin-like growth factor 1 receptor 611 Fibronectin type-III 2. anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization microsome ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277) CTCTCCAGTTCCTTCCATTCC 0.463000 52 134 0 0 0.000781405 0 0 RPS6KA6 27330 broad.mit.edu 37 X 83361437 83361437 + Missense_Mutation SNP A A G TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chrX:83361437A>G ENST00000262752.2 - 15 1308 c.1301T>C c.(1300-1302)gTt>gCt p.V434A RPS6KA6_ENST00000495332.1_5'UTR|RPS6KA6_ENST00000543399.1_Missense_Mutation_p.V434A NM_014496.4 NP_055311.1 Q9UK32 KS6A6_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 6 434 Protein kinase 2. axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 46 GTAGGAGCCAACACCAATATC 0.348000 4 11 0 0 0.00024832 0 0 CR1 1378 broad.mit.edu 37 1 207751265 207751265 + Silent SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:207751265G>A ENST00000367049.4 + 29 4653 c.4653G>A c.(4651-4653)ggG>ggA p.G1551G RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367053.1_Silent_p.G1101G|CR1_ENST00000400960.2_Silent_p.G1101G|CR1_ENST00000367052.1_Silent_p.G1101G|RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000367051.1_Silent_p.G1101G NM_000651.4 NP_000642.3 P17927 CR1_HUMAN complement component (3b/4b) receptor 1 (Knops blood group) 1101 Sushi 24. complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 GAAGCAGAGGGAGAAAGGTGT 0.517000 94 123 0 0 0.000781405 0 0 MX2 4600 broad.mit.edu 37 21 42778885 42778885 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr21:42778885C>T ENST00000330714.3 + 13 2049 c.1865C>T c.(1864-1866)tCc>tTc p.S622F NM_002463.1 NP_002454.1 P20592 MX2_HUMAN myxovirus (influenza virus) resistance 2 (mouse) 622 response to virus|type I interferon-mediated signaling pathway cytoplasm|nucleus GTP binding|GTPase activity breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 34 Prostate(19;1.57e-07)|all_epithelial(19;0.0222) TCGGTTTCCTCCTTTACTGAA 0.488000 16 32 0 0 0.00074312 0 0 PHACTR1 221692 broad.mit.edu 37 6 12718976 12718976 + Translation_Start_Site SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr6:12718976G>A ENST00000379350.1 + 0 129 PHACTR1_ENST00000379348.2_De_novo_Start_InFrame|PHACTR1_ENST00000332995.7_Intron Q9C0D0 PHAR1_HUMAN phosphatase and actin regulator 1 cell junction|cytoplasm|synapse actin binding|protein phosphatase inhibitor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 26 Breast(50;0.0427)|Ovarian(93;0.12) all_hematologic(90;0.122)|Lung SC(78;0.195) Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239) GAACATCAAGGATGGATTATC 0.368000 82 224 0 0 0.000781405 0 0 NPR2 4882 broad.mit.edu 37 9 35800423 35800423 + Silent SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr9:35800423C>T ENST00000342694.2 + 5 1416 c.1161C>T c.(1159-1161)gaC>gaT p.D387D NM_003995.3 NP_003986.2 P20594 ANPRB_HUMAN natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) 387 intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure integral to membrane|plasma membrane GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 45 all_epithelial(49;0.161) LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194) Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899) AGAACAATGACCGAGAGACTG 0.527000 14 89 0 0 0.000308642 0 0 VSIG1 340547 broad.mit.edu 37 X 107316583 107316583 + Silent SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chrX:107316583C>T ENST00000415430.3 + 6 941 c.780C>T c.(778-780)atC>atT p.I260I VSIG1_ENST00000217957.5_Silent_p.I224I NM_001170553.1 NP_001164024.1 Q86XK7 VSIG1_HUMAN V-set and immunoglobulin domain containing 1 224 integral to membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 17 CCTGCGAAATCGATCTCACTT 0.413000 48 222 0 0 0.000781405 0 0 AKR1D1 6718 broad.mit.edu 37 7 137792257 137792257 + Silent SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr7:137792257C>T ENST00000242375.3 + 7 828 c.786C>T c.(784-786)ttC>ttT p.F262F AKR1D1_ENST00000468877.2_3'UTR|AKR1D1_ENST00000432161.1_Silent_p.F262F|AKR1D1_ENST00000411726.2_Silent_p.F221F NM_005989.3 NP_005980.1 P51857 AK1D1_HUMAN aldo-keto reductase family 1, member D1 262 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 TTTTGCGTTTCAACATCCAGC 0.378000 20 78 0 0 0.00229938 0 0 F8 2157 broad.mit.edu 37 X 154159922 154159922 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chrX:154159922C>T ENST00000360256.4 - 14 2343 c.2143G>A c.(2143-2145)Gac>Aac p.D715N NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 715 F5/8 type A 2.|Plastocyanin-like 4. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) TTCCGAAAGTCTGAGTTGTGG 0.423000 23 44 0 0 0.000586117 0 0 HNF1B 6928 broad.mit.edu 37 17 36091655 36091655 + Silent SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr17:36091655G>A ENST00000225893.4 - 4 1337 c.976C>T c.(976-978)Ctg>Ttg p.L326L HNF1B_ENST00000561193.1_Silent_p.L300L|HNF1B_ENST00000560016.1_Silent_p.L326L|HNF1B_ENST00000427275.2_Silent_p.L300L NM_000458.2|NM_001165923.1 NP_000449.1|NP_001159395.1 P35680 HNF1B_HUMAN HNF1 homeobox B 326 endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size nucleus DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2) 28 Breast(25;0.00765)|Ovarian(249;0.15) STAD - Stomach adenocarcinoma(1;0.0142) AGAGGGTTCAGGCTGTGAGTC 0.597000 171 320 0 0 0.000781405 0 0 GFPT1 2673 broad.mit.edu 37 2 69556550 69556550 + Missense_Mutation SNP A A T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr2:69556550A>T ENST00000357308.4 - 17 1782 c.1604T>A c.(1603-1605)aTt>aAt p.I535N GFPT1_ENST00000361060.4_Missense_Mutation_p.I517N NM_001244710.1 NP_001231639.1 Q06210 GFPT1_HUMAN glutamine--fructose-6-phosphate transaminase 1 535 dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding endometrium(1)|large_intestine(3)|lung(5)|skin(3) 12 TACTTCCTTAATCAAATCTAA 0.323000 8 14 0 0 0.000157383 0 0 DPP6 1804 broad.mit.edu 37 7 154585800 154585800 + Missense_Mutation SNP T T C TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr7:154585800T>C ENST00000404039.1 + 11 1543 c.956T>C c.(955-957)aTc>aCc p.I319T DPP6_ENST00000332007.3_Missense_Mutation_p.I321T|DPP6_ENST00000377770.3_Missense_Mutation_p.I383T|DPP6_ENST00000427557.1_Missense_Mutation_p.I276T NM_001039350.1|NM_001936.3|NM_130797.2 NP_001034439.1|NP_001927.3|NP_570629.2 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 383 cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 71 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) GAGTACTACATCACCATGGTG 0.652000 19 18 0 0 0.00152264 0 0 C6orf165 154313 broad.mit.edu 37 6 88119576 88119576 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr6:88119576G>A ENST00000507897.1 + 2 102 c.19G>A c.(19-21)Gaa>Aaa p.E7K C6ORF165_ENST00000369562.4_Missense_Mutation_p.E7K Q8IYR0 CF165_HUMAN chromosome 6 open reading frame 165 7 NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0419) AACTCAGGCCGAAAGTGTTAT 0.333000 21 58 0 0 0.00229938 0 0 ZNF536 9745 broad.mit.edu 37 19 30936347 30936347 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr19:30936347G>A ENST00000355537.3 + 2 2025 c.1878G>A c.(1876-1878)atG>atA p.M626I NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 626 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) CTGGGAACATGAAGGAGAAGC 0.597000 23 107 0 0 0.000720815 0 0 KMT2C 58508 broad.mit.edu 37 7 151960106 151960106 + Missense_Mutation SNP A A G TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr7:151960106A>G ENST00000355193.2 - 9 1512 c.1294T>C c.(1294-1296)Tgc>Cgc p.C432R KMT2C_ENST00000262189.6_Missense_Mutation_p.C432R lysine (K)-specific methyltransferase 2C CTTACTTTGCATTTCCAGCCA 0.338000 43 49 0 0 0.00170553 0 0 TONSL 4796 broad.mit.edu 37 8 145661975 145661975 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr8:145661975C>T ENST00000409379.3 - 16 2009 c.1980G>A c.(1978-1980)atG>atA p.M660I AC084125.4_ENST00000544423.1_RNA NM_013432.4 NP_038460.4 Q96HA7 TONSL_HUMAN tonsoku-like, DNA repair protein 660 cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing cytoplasm|nuclear replication fork histone binding|transcription corepressor activity biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1) 26 GCAGCATCTCCATGGCCCTGG 0.672000 10 40 0 0 0.00185496 0 0 UBR1 197131 broad.mit.edu 37 15 43363063 43363063 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr15:43363063C>T ENST00000290650.4 - 5 667 c.589G>A c.(589-591)Gtg>Atg p.V197M UBR1_ENST00000382177.2_Missense_Mutation_p.V197M NM_174916.2 NP_777576.1 Q8IWV7 UBR1_HUMAN ubiquitin protein ligase E3 component n-recognin 1 197 cellular response to leucine|negative regulation of TOR signaling cascade cytosol leucine binding|zinc ion binding NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 58 all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214) TATTTTATCACTGAAGGAAAT 0.378000 36 83 0 0 0.00058488 0 0 SALL1 6299 broad.mit.edu 37 16 51172871 51172871 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr16:51172871C>T ENST00000440970.1 - 2 3402 c.2971G>A c.(2971-2973)Gag>Aag p.E991K SALL1_ENST00000251020.4_Missense_Mutation_p.E1088K|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 1088 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) CCGTTGACCTCTGTCTTGATG 0.562000 23 47 0 0 0.00278032 0 0 TNN 63923 broad.mit.edu 37 1 175097186 175097186 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:175097186G>A ENST00000239462.4 + 14 3177 c.3064G>A c.(3064-3066)Gaa>Aaa p.E1022K NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 1022 Fibronectin type-III 9. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) GCTGGGACGGGAAGACCAGAG 0.552000 18 70 0 0 0.00074312 0 0 ADAM9 8754 broad.mit.edu 37 8 38865485 38865485 + Missense_Mutation SNP A A T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr8:38865485A>T ENST00000487273.2 + 2 256 c.178A>T c.(178-180)Agg>Tgg p.R60W ADAM9_ENST00000481513.1_Missense_Mutation_p.R60W|ADAM9_ENST00000466936.1_Missense_Mutation_p.R60W NM_003816.2 NP_003807.1 Q13443 ADAM9_HUMAN ADAM metallopeptidase domain 9 60 Missing (in Ref. 2; no nucleotide entry). activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway extracellular space|integral to membrane|intrinsic to external side of plasma membrane collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153) LUSC - Lung squamous cell carcinoma(45;2.74e-07) AGAAGCCCCTAGGCCCTATTC 0.328000 14 45 0 0 0.00244969 0 0 NRAP 4892 broad.mit.edu 37 10 115365969 115365969 + Silent SNP G G T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr10:115365969G>T ENST00000369358.4 - 33 4043 c.3799C>A c.(3799-3801)Cga>Aga p.R1267R NRAP_ENST00000369360.3_Silent_p.R1232R|NRAP_ENST00000359988.3_Silent_p.R1259R|NRAP_ENST00000360478.3_Silent_p.R1224R Q86VF7 NRAP_HUMAN nebulin-related anchoring protein 1259 fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) GTTTTTGCTCGGATGAACTCG 0.433000 6 54 0.00198382 0.00948867 0.00198382 1 0 VAMP7 6845 broad.mit.edu 37 X 155127812 155127812 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chrX:155127812G>A ENST00000286448.6 + 4 406 c.241G>A c.(241-243)Gag>Aag p.E81K VAMP7_ENST00000262640.6_Missense_Mutation_p.E81K|VAMP7_ENST00000479687.1_3'UTR|VAMP7_ENST00000460621.1_Missense_Mutation_p.E40K NM_001145149.2|NM_005638.5 NP_001138621.1|NP_005629.1 P51809 VAMP7_HUMAN vesicle-associated membrane protein 7 81 Longin. calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|ER to Golgi vesicle-mediated transport|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|SNARE complex|transport vesicle membrane protein binding large_intestine(1)|lung(8) 9 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) TTTTCTGAATGAGATAAAGAA 0.398000 15 86 0 0 0.00074312 0 0 KCND3 3752 broad.mit.edu 37 1 112329723 112329723 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:112329723C>T ENST00000369697.1 - 2 1181 c.1112G>A c.(1111-1113)gGa>gAa p.G371E KCND3_ENST00000302127.4_Missense_Mutation_p.G371E|KCND3_ENST00000315987.2_Missense_Mutation_p.G371E Q9UK17 KCND3_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 3 371 sarcolemma|voltage-gated potassium channel complex A-type (transient outward) potassium channel activity|metal ion binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 49 all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05) all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231) CACCATGTCTCCGTATCTGAG 0.522000 16 51 0 0 0.00074312 0 0 BMPER 168667 broad.mit.edu 37 7 34094894 34094894 + Missense_Mutation SNP A A C TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr7:34094894A>C ENST00000297161.2 + 10 1280 c.906A>C c.(904-906)aaA>aaC p.K302N BMPER_ENST00000426693.1_Missense_Mutation_p.K302N NM_133468.4 NP_597725.1 Q8N8U9 BMPER_HUMAN BMP binding endothelial regulator 302 VWFC 5. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 AAGTATGCAAATTTGGCAACA 0.493000 29 151 0 0 0.00209593 0 0 DEFB114 245928 broad.mit.edu 37 6 49928133 49928133 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr6:49928133G>A ENST00000322066.3 - 2 81 c.82C>T c.(82-84)Cgt>Tgt p.R28C NM_001037499.1 NP_001032588.1 Q30KQ6 DB114_HUMAN defensin, beta 114 28 defense response to bacterium extracellular region p.R28C(1) kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 8 Lung NSC(77;0.042) TTGGTGCAACGATCAGCATTC 0.353000 15 30 0 0 0.000422831 0 0 ADAM7 8756 broad.mit.edu 37 8 24326320 24326320 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr8:24326320C>T ENST00000175238.6 + 7 703 c.620C>T c.(619-621)gCt>gTt p.A207V RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.A207V|RP11-624C23.1_ENST00000519689.1_RNA NM_003817.3 NP_003808.2 Q9H2U9 ADAM7_HUMAN ADAM metallopeptidase domain 7 207 Peptidase M12B. 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) TTCATTGTTGCTGATGATACT 0.318000 19 49 0 0 0.00188189 0 0 ITPR1 3708 broad.mit.edu 37 3 4847918 4847918 + Silent SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr3:4847918G>A ENST00000302640.8 + 54 7544 c.7194G>A c.(7192-7194)ggG>ggA p.G2398G ITPR1_ENST00000423119.2_Silent_p.G2365G|ITPR1_ENST00000357086.4_Silent_p.G2365G|ITPR1_ENST00000354582.6_Silent_p.G2398G|ITPR1_ENST00000443694.2_Silent_p.G2398G|ITPR1_ENST00000456211.2_Silent_p.G2350G|ITPR1_ENST00000463980.1_3'UTR|ITPR1_ENST00000544951.1_Silent_p.G376G NM_001168272.1 NP_001161744.1 Q14643 ITPR1_HUMAN inositol 1,4,5-trisphosphate receptor, type 1 2413 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) GTGCCATGGGGCTCTTTGTCC 0.468000 15 74 0 0 0.000422831 0 0 CRP 1401 broad.mit.edu 37 1 159683618 159683618 + Silent SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:159683618G>A ENST00000255030.5 - 2 475 c.372C>T c.(370-372)atC>atT p.I124I CRP_ENST00000368112.1_Intron|CRP_ENST00000343919.2_Intron|CRP_ENST00000368111.1_Intron|CRP_ENST00000368110.1_Intron|CRP_ENST00000437342.1_5'UTR NM_000567.2 NP_000558.2 P02741 CRP_HUMAN C-reactive protein, pentraxin-related 124 Pentaxin. acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1) 22 all_hematologic(112;0.0429) Atorvastatin(DB01076)|Bezafibrate(DB01393) AGAACTCCACGATCCCTGAGG 0.522000 117 113 0 0 0.000781405 0 0 TRHDE 29953 broad.mit.edu 37 12 72863634 72863634 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr12:72863634C>T ENST00000261180.4 + 4 1373 c.1277C>T c.(1276-1278)tCa>tTa p.S426L NM_013381.2 NP_037513.1 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 426 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 CCCAGTGTTTCATCTATTTCT 0.393000 12 46 0 0 0.00185496 0 0 OR2G6 391211 broad.mit.edu 37 1 248685082 248685082 + Silent SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:248685082C>T ENST00000343414.4 + 1 167 c.135C>T c.(133-135)ctC>ctT p.L45L NM_001013355.1 NP_001013373.1 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, member 6 45 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 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) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) ACACTGCCCTCATACTAGTAT 0.478000 40 49 0 0 0.000953801 0 0 SLC16A9 220963 broad.mit.edu 37 10 61443926 61443926 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr10:61443926C>T ENST00000395348.3 - 2 760 c.124G>A c.(124-126)Gat>Aat p.D42N SLC16A9_ENST00000490066.1_5'UTR|SLC16A9_ENST00000395347.1_Missense_Mutation_p.D42N NM_194298.2 NP_919274.1 Q7RTY1 MOT9_HUMAN solute carrier family 16, member 9 42 urate metabolic process integral to membrane|plasma membrane symporter activity kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 23 CCAAAGGCATCCAGCCATTCT 0.478000 31 60 0 0 0.000814825 0 0 TAF7L 54457 broad.mit.edu 37 X 100532599 100532599 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chrX:100532599G>A ENST00000372907.3 - 9 955 c.944C>T c.(943-945)tCg>tTg p.S315L TAF7L_ENST00000356784.1_Missense_Mutation_p.S229L|TAF7L_ENST00000324762.6_Missense_Mutation_p.S229L|TAF7L_ENST00000372905.2_Missense_Mutation_p.S229L NM_024885.3 NP_079161.3 Q5H9L4 TAF7L_HUMAN TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa 315 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter cytoplasm|transcription factor TFIID complex binding NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 AGTACCTGACGAGGTATGACC 0.433000 32 191 0 0 0.000692331 0 0 CDC37L1 55664 broad.mit.edu 37 9 4697137 4697137 + Missense_Mutation SNP G G C TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr9:4697137G>C ENST00000381854.3 + 4 752 c.550G>C c.(550-552)Gac>Cac p.D184H CDC37L1_ENST00000381858.1_Missense_Mutation_p.D184H NM_017913.2 NP_060383.2 Q7L3B6 CD37L_HUMAN cell division cycle 37-like 1 184 Self-association and interaction with Hsp90. cytoplasm breast(1)|kidney(1)|lung(2) 4 all_hematologic(13;0.137) Breast(48;0.238) GBM - Glioblastoma multiforme(50;0.0318) ATTTTTGTCTGACCATCCATA 0.348000 10 55 0 0 0.000978159 0 0 PNPLA8 50640 broad.mit.edu 37 7 108154961 108154961 + Silent SNP T T C TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr7:108154961T>C ENST00000426128.2 - 2 1100 c.975A>G c.(973-975)gaA>gaG p.E325E PNPLA8_ENST00000422087.1_Silent_p.E325E|PNPLA8_ENST00000483879.1_Intron|PNPLA8_ENST00000453144.1_Silent_p.E225E|PNPLA8_ENST00000436062.1_Silent_p.E325E|PNPLA8_ENST00000257694.8_Silent_p.E325E|PNPLA8_ENST00000388728.5_Silent_p.E325E NM_001256009.1 NP_001242938.1 Q9NP80 PLPL8_HUMAN patatin-like phospholipase domain containing 8 325 fatty acid metabolic process|lipid catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3) 29 TAGCAGGCTCTTCCTGTTCTT 0.438000 33 136 0 0 0.000692331 0 0 ADAM2 2515 broad.mit.edu 37 8 39624428 39624428 + Nonsense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr8:39624428C>T ENST00000265708.4 - 14 1549 c.1446G>A c.(1444-1446)tgG>tgA p.W482* ADAM2_ENST00000521880.1_Nonsense_Mutation_p.W482*|ADAM2_ENST00000347580.4_Nonsense_Mutation_p.W463*|ADAM2_ENST00000379853.2_Nonsense_Mutation_p.W356* NM_001464.3 NP_001455.3 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 482 Cys-rich. cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1) 53 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) CTATACAGATCCATTGATTCA 0.388000 32 26 0 0 0.00283554 0 0 MUC16 94025 broad.mit.edu 37 19 9090789 9090789 + Silent SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr19:9090789C>T ENST00000397910.4 - 1 1229 c.1026G>A c.(1024-1026)agG>agA p.R342R NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 342 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 TGCTTCTGACCCTTTCGGCAC 0.512000 4 33 0 0 0.00024832 0 0 CDHR2 54825 broad.mit.edu 37 5 176002198 176002198 + Silent SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr5:176002198G>A ENST00000510636.1 + 8 883 c.609G>A c.(607-609)gaG>gaA p.E203E CDHR2_ENST00000261944.5_Silent_p.E203E|CDHR2_ENST00000506348.1_Silent_p.E203E NM_001171976.1 NP_001165447.1 Q9BYE9 CDHR2_HUMAN cadherin-related family member 2 203 Cadherin 2. homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1) 56 ACCAGCTGGAGCTGAAGGCCT 0.637000 39 42 0 0 0.0025221 0 0 OR2T33 391195 broad.mit.edu 37 1 248436915 248436915 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:248436915C>T ENST00000318021.2 - 1 223 c.202G>A c.(202-204)Gac>Aac p.D68N NM_001004695.1 NP_001004695.1 Q8NG76 O2T33_HUMAN olfactory receptor, family 2, subfamily T, member 33 68 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4) 67 all_cancers(71;0.000124)|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;0.0245) AGCATCATGTCCATGAGGGAA 0.552000 49 138 0 0 0.000781405 0 0 SLC4A10 57282 broad.mit.edu 37 2 162660961 162660961 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr2:162660961C>T ENST00000375514.5 + 4 453 c.166C>T c.(166-168)Cat>Tat p.H56Y SLC4A10_ENST00000415876.2_Missense_Mutation_p.H45Y|SLC4A10_ENST00000421911.1_Missense_Mutation_p.H45Y|SLC4A10_ENST00000535165.1_Missense_Mutation_p.H45Y|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000446997.1_Missense_Mutation_p.H45Y|SLC4A10_ENST00000272716.5_Missense_Mutation_p.H45Y NM_001178016.1 NP_001171487.1 Q6U841 S4A10_HUMAN solute carrier family 4, sodium bicarbonate transporter, member 10 45 bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 TTATGAAGGTCATCGAACACT 0.388000 9 23 0 0 0.000978159 0 0 PTPRB 5787 broad.mit.edu 37 12 71029686 71029686 + Silent SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr12:71029686G>A ENST00000334414.6 - 2 260 c.216C>T c.(214-216)tcC>tcT p.S72S PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000550358.1_Silent_p.S72S|PTPRB_ENST00000551525.1_Silent_p.S71S NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 0 Fibronectin type-III 1. 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) GGGAAGAGTTGGAGATGGCCA 0.562000 10 16 0 0 0.000978159 0 0 SPEF2 79925 broad.mit.edu 37 5 35727804 35727804 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr5:35727804G>A ENST00000440995.2 + 21 2927 c.2927G>A c.(2926-2928)gGa>gAa p.G976E SPEF2_ENST00000356031.3_Missense_Mutation_p.G981E|CTD-2113L7.1_ENST00000510433.1_RNA Q9C093 SPEF2_HUMAN sperm flagellar 2 981 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TCATCAGGAGGAAAAGTACCA 0.388000 17 35 0 0 0.000422831 0 0 DDOST 1650 broad.mit.edu 37 1 20980210 20980210 + Silent SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:20980210C>T ENST00000375048.3 - 8 1008 c.903G>A c.(901-903)aaG>aaA p.K301K DDOST_ENST00000602624.2_Silent_p.K284K|DDOST_ENST00000415136.2_Silent_p.K264K NM_005216.4 NP_005207.2 P39656 OST48_HUMAN dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic) 301 innate immune response|post-translational protein modification|response to cytokine stimulus|T cell activation integral to membrane|microsome|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|skin(1) 13 all_lung(284;2.98e-05)|Lung NSC(340;3.25e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000141)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00046)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) CACCCTCCTCCTTGAACACCC 0.597000 11 22 0 0 0.000673444 0 0 ELL2 22936 broad.mit.edu 37 5 95226829 95226829 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr5:95226829G>A ENST00000237853.4 - 10 2088 c.1739C>T c.(1738-1740)tCt>tTt p.S580F ELL2_ENST00000431061.2_Missense_Mutation_p.S330F NM_012081.5 NP_036213.2 O00472 ELL2_HUMAN elongation factor, RNA polymerase II, 2 580 regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter transcription elongation factor complex breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2) 24 all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198) all cancers(79;2.16e-15) TGAGCCTGGAGAAAGGCGCTT 0.428000 39 66 0 0 0.0025221 0 0 ZNF711 7552 broad.mit.edu 37 X 84525120 84525120 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chrX:84525120G>A ENST00000360700.4 + 9 2100 c.1214G>A c.(1213-1215)aGg>aAg p.R405K ZNF711_ENST00000373165.3_Missense_Mutation_p.R359K|ZNF711_ENST00000395402.1_Missense_Mutation_p.R367K|ZNF711_ENST00000542798.1_Missense_Mutation_p.R201K|ZNF711_ENST00000276123.3_Missense_Mutation_p.R359K Q9Y462 ZN711_HUMAN zinc finger protein 711 359 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4) 28 GCCAAAAAGAGGAGAAGGGGA 0.348000 7 28 0 0 0.00198382 0 0 ABCB9 23457 broad.mit.edu 37 12 123424770 123424770 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr12:123424770C>T ENST00000542678.1 - 9 4469 c.1631G>A c.(1630-1632)gGg>gAg p.G544E ABCB9_ENST00000280560.8_Missense_Mutation_p.G544E|ABCB9_ENST00000442833.2_Missense_Mutation_p.G544E|ABCB9_ENST00000344275.7_Missense_Mutation_p.G544E|ABCB9_ENST00000392439.3_Missense_Mutation_p.G544E|ABCB9_ENST00000541983.1_5'UTR|ABCB9_ENST00000540285.1_Missense_Mutation_p.G481E|ABCB9_ENST00000442028.2_Missense_Mutation_p.G544E|ABCB9_ENST00000346530.5_Missense_Mutation_p.G501E Q9NP78 ABCB9_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 9 544 ABC transporter. positive regulation of T cell mediated cytotoxicity|protein transport lysosomal membrane|plasma membrane|TAP complex ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1) 18 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111) GGAGCTCTTCCCACTGCCCGA 0.632000 14 116 0 0 0.00074312 0 0 MARCH11 441061 broad.mit.edu 37 5 16067614 16067614 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr5:16067614G>A ENST00000332432.8 - 4 1374 c.1175C>T c.(1174-1176)tCg>tTg p.S392L NM_001102562.1 NP_001096032.1 A6NNE9 MARHB_HUMAN membrane-associated ring finger (C3HC4) 11 392 cytoplasmic vesicle membrane|integral to membrane ligase activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1) 20 AACCTCCCCCGAGCTGTTATC 0.463000 67 78 0 0 0.000781405 0 0 PLCZ1 89869 broad.mit.edu 37 12 18847966 18847966 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr12:18847966C>T ENST00000447925.2 - 12 1602 c.1333G>A c.(1333-1335)Ggg>Agg p.G445R PLCZ1_ENST00000539875.1_Missense_Mutation_p.G254R|PLCZ1_ENST00000534932.1_5'UTR|PLCZ1_ENST00000541695.1_Missense_Mutation_p.G310R|PLCZ1_ENST00000435379.1_Missense_Mutation_p.G252R|PLCZ1_ENST00000266505.7_Missense_Mutation_p.G447R|PLCZ1_ENST00000538330.1_Missense_Mutation_p.G229R NM_033123.2 NP_149114.2 Q86YW0 PLCZ1_HUMAN phospholipase C, zeta 1 447 PI-PLC Y-box. intracellular signal transduction|lipid catabolic process|multicellular organismal development nucleus|perinuclear region of cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) AAAAATTTCCCATTTTGCAGA 0.343000 12 44 0 0 0.00136819 0 0 KAT6A 7994 broad.mit.edu 37 8 41834788 41834788 + Missense_Mutation SNP T T A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr8:41834788T>A ENST00000396930.3 - 8 1644 c.1101A>T c.(1099-1101)aaA>aaT p.K367N KAT6A_ENST00000485568.1_Missense_Mutation_p.K367N|KAT6A_ENST00000265713.2_Missense_Mutation_p.K367N|KAT6A_ENST00000406337.1_Missense_Mutation_p.K367N NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 367 Interaction with RUNX1-1. histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding AAAGAGTGATTTTTCGTTTCC 0.413000 20 61 0 0 0.00188189 0 0 EPHB6 2051 broad.mit.edu 37 7 142564278 142564278 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr7:142564278C>T ENST00000392957.2 + 10 2289 c.1502C>T c.(1501-1503)tCc>tTc p.S501F EPHB6_ENST00000411471.2_Missense_Mutation_p.S224F|EPHB6_ENST00000442129.1_Missense_Mutation_p.S501F NM_004445.3 NP_004436.2 O15197 EPHB6_HUMAN EPH receptor B6 501 Fibronectin type-III 2. extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 87 Melanoma(164;0.059) AGCCGGGCATCCAACAGCATC 0.587000 30 25 0 0 0.00178596 0 0 RNF17 56163 broad.mit.edu 37 13 25433214 25433214 + Nonsense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr13:25433214G>A ENST00000255324.5 + 26 3738 c.3686G>A c.(3685-3687)tGg>tAg p.W1229* RNF17_ENST00000339524.3_Nonsense_Mutation_p.W281*|RNF17_ENST00000381921.1_Nonsense_Mutation_p.W1229* NM_001184993.1|NM_031277.2 NP_001171922.1|NP_112567.2 Q9BXT8 RNF17_HUMAN ring finger protein 17 1229 Tudor 3. multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) CCTTATTTCTGGAAAAAAGGA 0.373000 10 25 0 0 0.000673444 0 0 DNAH7 56171 broad.mit.edu 37 2 196726449 196726449 + Silent SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr2:196726449C>T ENST00000312428.6 - 42 7828 c.7728G>A c.(7726-7728)aaG>aaA p.K2576K NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2576 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 ACCTTCTTTTCTTTTCTAACA 0.284000 10 35 0 0 0.000673444 0 0 CCDC148 130940 broad.mit.edu 37 2 159077138 159077138 + Missense_Mutation SNP T T A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr2:159077138T>A ENST00000283233.5 - 11 1652 c.1339A>T c.(1339-1341)Atc>Ttc p.I447F CCDC148-AS1_ENST00000412781.2_RNA|CCDC148_ENST00000409187.1_Missense_Mutation_p.I456F NM_138803.3 NP_620158.3 Q8NFR7 CC148_HUMAN coiled-coil domain containing 148 447 endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 23 TGTTCAGCGATTAATTTCTTC 0.328000 8 23 0 0 0.000673444 0 0 FAT3 120114 broad.mit.edu 37 11 92531999 92531999 + Silent SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr11:92531999C>T ENST00000298047.6 + 9 5837 c.5820C>T c.(5818-5820)acC>acT p.T1940T FAT3_ENST00000409404.2_Silent_p.T1940T|FAT3_ENST00000525166.1_Silent_p.T1790T Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 1940 Cadherin 17. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GAGTACTTACCATAAAAAACA 0.423000 TCGA Ovarian(4;0.039) 145 271 0 0 0.000781405 0 0 ZFHX3 463 broad.mit.edu 37 16 72993437 72993437 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr16:72993437G>A ENST00000268489.5 - 2 1280 c.608C>T c.(607-609)tCc>tTc p.S203F ZFHX3_ENST00000397992.5_Intron NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 203 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) TTTCCCGAAGGATGAGGCTAT 0.612000 31 97 0 0 0.00178596 0 0 HEMK1 51409 broad.mit.edu 37 3 50614591 50614591 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr3:50614591C>T ENST00000232854.4 + 5 1075 c.523C>T c.(523-525)Ctc>Ttc p.L175F HEMK1_ENST00000455834.1_Missense_Mutation_p.L175F|HEMK1_ENST00000434410.1_Missense_Mutation_p.L175F NM_016173.3 NP_057257.1 Q9Y5R4 HEMK1_HUMAN HemK methyltransferase family member 1 175 DNA methylation DNA binding|N-methyltransferase activity|protein methyltransferase activity lung(3) 3 BRCA - Breast invasive adenocarcinoma(193;0.000283)|KIRC - Kidney renal clear cell carcinoma(197;0.0179)|Kidney(197;0.0212) AGCCATCTCCCTCAGCCTGCT 0.627000 10 50 0 0 0.000673444 0 0 ABCA13 154664 broad.mit.edu 37 7 48269475 48269475 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr7:48269475C>T ENST00000435803.1 + 7 710 c.686C>T c.(685-687)tCc>tTc p.S229F NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 229 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 CAAACTTTTTCCCAGGTTTCT 0.408000 49 175 0 0 0.000781405 0 0 LTBP2 4053 broad.mit.edu 37 14 75052711 75052711 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr14:75052711C>T ENST00000261978.4 - 3 1062 c.676G>A c.(676-678)Gaa>Aaa p.E226K LTBP2_ENST00000556690.1_Missense_Mutation_p.E226K|LTBP2_ENST00000557425.1_Intron NM_000428.2 NP_000419.1 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding protein 2 226 protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) GGGTCAAATTCCTCATCGGGA 0.682000 14 10 0 0 0.000422831 0 0 NWD1 284434 broad.mit.edu 37 19 16859961 16859961 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr19:16859961G>A ENST00000524140.2 + 6 926 c.508G>A c.(508-510)Gag>Aag p.E170K NWD1_ENST00000552788.1_Missense_Mutation_p.E170K|NWD1_ENST00000549814.1_Missense_Mutation_p.E170K|NWD1_ENST00000523826.1_5'UTR|NWD1_ENST00000339803.6_Missense_Mutation_p.E35K|NWD1_ENST00000379808.3_Missense_Mutation_p.E170K NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 170 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 CATTGAGTGGGAGATAGAGCG 0.542000 6 22 0 0 0.00198382 0 0 CDH17 1015 broad.mit.edu 37 8 95178002 95178002 + Silent SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr8:95178002C>T ENST00000027335.3 - 10 1393 c.1269G>A c.(1267-1269)gaG>gaA p.E423E CDH17_ENST00000441892.2_Silent_p.E209E|CDH17_ENST00000450165.2_Silent_p.E423E NM_004063.3 NP_004054.3 Q12864 CAD17_HUMAN cadherin 17, LI cadherin (liver-intestine) 423 Cadherin 4. integral to membrane calcium ion binding NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2) 52 Breast(36;4.65e-06) BRCA - Breast invasive adenocarcinoma(8;0.00691) TGTCAGACACCTCTATCGTTA 0.398000 15 53 0 0 0.000566183 0 0 LTBP1 4052 broad.mit.edu 37 2 33500129 33500129 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr2:33500129G>A ENST00000404816.2 + 17 3194 c.2841G>A c.(2839-2841)atG>atA p.M947I LTBP1_ENST00000404525.1_Missense_Mutation_p.M568I|LTBP1_ENST00000402934.1_Missense_Mutation_p.M568I|LTBP1_ENST00000354476.3_Missense_Mutation_p.M948I|LTBP1_ENST00000418533.2_Missense_Mutation_p.M621I|LTBP1_ENST00000390003.4_Missense_Mutation_p.M622I|LTBP1_ENST00000407925.1_Missense_Mutation_p.M621I Q14766 LTBP1_HUMAN latent transforming growth factor beta binding protein 1 947 EGF-like 5; calcium-binding (Potential). negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) CAGGATTTATGGCCAGTGAGG 0.463000 19 50 0 0 0.00229938 0 0 ATP2A3 489 broad.mit.edu 37 17 3854588 3854588 + Silent SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr17:3854588G>A ENST00000309890.7 - 5 570 c.420C>T c.(418-420)atC>atT p.I140I ATP2A3_ENST00000397041.3_Silent_p.I140I|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000397043.3_Silent_p.I140I|ATP2A3_ENST00000352011.3_Silent_p.I140I|ATP2A3_ENST00000397035.3_Silent_p.I140I|ATP2A3_ENST00000359983.3_Silent_p.I140I NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2 NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1 Q93084 AT2A3_HUMAN ATPase, Ca++ transporting, ubiquitous 140 ATP biosynthetic process|platelet activation integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 36 LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766) CCCGGGCACGGATCCTCTGCA 0.517000 15 24 0 0 0.00074312 0 0 PLA2G4F 255189 broad.mit.edu 37 15 42437807 42437807 + Silent SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr15:42437807G>A ENST00000397272.3 - 16 1843 c.1752C>T c.(1750-1752)ttC>ttT p.F584F PLA2G4F_ENST00000382396.4_Silent_p.F582F NM_213600.3 NP_998765.3 Q68DD2 PA24F_HUMAN phospholipase A2, group IVF 582 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) ACCACTCCAGGAAGCTGAGGC 0.622000 35 86 0 0 0.00128727 0 0 FSCN3 29999 broad.mit.edu 37 7 127235455 127235455 + Missense_Mutation SNP G G C TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr7:127235455G>C ENST00000265825.5 + 2 458 c.239G>C c.(238-240)gGc>gCc p.G80A FSCN3_ENST00000478328.1_3'UTR|FSCN3_ENST00000420086.2_5'UTR NM_020369.2 NP_065102.1 Q9NQT6 FSCN3_HUMAN fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus) 80 actin cytoskeleton|cytoplasm actin filament binding|protein binding, bridging endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 30 GAGTGTGATGGCACCGTGTGT 0.577000 19 71 0 0 0.00152264 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110431368 110431368 + Silent SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr8:110431368G>A ENST00000378402.5 + 22 2507 c.2403G>A c.(2401-2403)acG>acA p.T801T NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 801 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) TCGTAAGAACGAAATACACTG 0.373000 HNSCC(38;0.096) 14 35 0 0 0.000566183 0 0 STON1 11037 broad.mit.edu 37 2 48808712 48808712 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr2:48808712G>A ENST00000309835.3 + 1 950 c.940G>A c.(940-942)Gga>Aga p.G314R STON1_ENST00000406226.1_Missense_Mutation_p.G314R|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.G314R|STON1_ENST00000404752.1_Missense_Mutation_p.G314R|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.G314R|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.G314R|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.G314R|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.G314R stonin 1 NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2) 37 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) TTATGAACAGGGATTAGAAAA 0.393000 36 79 0 0 0.000814825 0 0 MSH3 4437 broad.mit.edu 37 5 80057454 80057454 + Missense_Mutation SNP T T G TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr5:80057454T>G ENST00000265081.6 + 13 1933 c.1853T>G c.(1852-1854)tTg>tGg p.L618W NM_002439.4 NP_002430.3 P20585 MSH3_HUMAN mutS homolog 3 618 maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244) OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33) CTACGTAAATTGCCCGACATA 0.393000 Mismatch excision repair (MMR) 11 28 0 0 0.00244969 0 0 RAB4B-EGLN2 100529264 broad.mit.edu 37 19 41289901 41289901 + Silent SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr19:41289901C>T ENST00000594136.1 + 5 456 c.351C>T c.(349-351)atC>atT p.I117I RAB4B_ENST00000602069.1_3'UTR|RAB4B-EGLN2_ENST00000601949.1_Intron|RAB4B_ENST00000594800.1_Silent_p.I117I|RAB4B_ENST00000357052.2_Silent_p.I117I|MIA-RAB4B_ENST00000600729.1_3'UTR TCGTGGTCATCCTCTGTGGCA 0.627000 5 28 0 0 0.00116845 0 0 TRAK2 66008 broad.mit.edu 37 2 202251159 202251159 + Missense_Mutation SNP C C A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr2:202251159C>A ENST00000332624.3 - 14 2173 c.1745G>T c.(1744-1746)gGa>gTa p.G582V NM_015049.2 NP_055864.2 O60296 TRAK2_HUMAN trafficking protein, kinesin binding 2 582 Missing (in Ref. 2). early endosome|plasma membrane GABA receptor binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1) 23 AAGGATGGTTCCCAAGTTTGG 0.443000 45 108 8.48111e-28 4.20755e-27 0.000781405 1 0 NAB1 4664 broad.mit.edu 37 2 191524549 191524549 + Missense_Mutation SNP A A G TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr2:191524549A>G ENST00000337386.5 + 4 1108 c.647A>G c.(646-648)aAt>aGt p.N216S NAB1_ENST00000409641.1_Missense_Mutation_p.N216S|NAB1_ENST00000409581.1_Missense_Mutation_p.N216S|NAB1_ENST00000357215.5_Missense_Mutation_p.N216S NM_005966.3 NP_005957.2 Q13506 NAB1_HUMAN NGFI-A binding protein 1 (EGR1 binding protein 1) 216 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1) 7 OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0405)|all cancers(119;0.109) AGTGACTTGAATGAAGTGAAA 0.493000 8 33 0 0 0.000442599 0 0 AADACL3 126767 broad.mit.edu 37 1 12785271 12785271 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:12785271G>A ENST00000332530.3 + 3 377 c.151G>A c.(151-153)Gat>Aat p.D51N AADACL3_ENST00000359318.5_Missense_Mutation_p.D121N NM_001103169.1 NP_001096639.1 Q5VUY0 ADCL3_HUMAN arylacetamide deacetylase-like 3 121 hydrolase activity breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1) 15 Ovarian(185;0.249) Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) GAAGTCCCTGGATGCATATGG 0.512000 35 81 0 0 0.000814825 0 0 AMER3 205147 broad.mit.edu 37 2 131520521 131520521 + Silent SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr2:131520521G>A ENST00000423981.1 + 2 986 c.876G>A c.(874-876)gtG>gtA p.V292V AMER3_ENST00000321420.4_Silent_p.V292V NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2 NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2 APC membrane recruitment protein 3 AGGGCAGTGTGGAGCAGCTGG 0.652000 9 45 0 0 0.000442599 0 0 NRROS 375387 broad.mit.edu 37 3 196381472 196381472 + Missense_Mutation SNP A A G TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr3:196381472A>G ENST00000328557.4 + 2 265 c.62A>G c.(61-63)aAc>aGc p.N21S NM_198565.1 NP_940967.1 negative regulator of reactive oxygen species GGCTGGAGGAACAGAAGCGGA 0.577000 18 49 0 0 0.000958276 0 0 GFPT1 2673 broad.mit.edu 37 2 69556548 69556548 + Nonsense_Mutation SNP T T A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr2:69556548T>A ENST00000357308.4 - 17 1784 c.1606A>T c.(1606-1608)Aag>Tag p.K536* GFPT1_ENST00000361060.4_Nonsense_Mutation_p.K518* NM_001244710.1 NP_001231639.1 Q06210 GFPT1_HUMAN glutamine--fructose-6-phosphate transaminase 1 536 dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding endometrium(1)|large_intestine(3)|lung(5)|skin(3) 12 AGTACTTCCTTAATCAAATCT 0.323000 8 15 0 0 0.000274275 0 0 DST 667 broad.mit.edu 37 6 56471353 56471353 + Silent SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr6:56471353G>A ENST00000370754.5 - 39 7973 c.7974C>T c.(7972-7974)ttC>ttT p.F2658F DST_ENST00000421834.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000370769.4_Silent_p.F2480F|DST_ENST00000361203.3_Silent_p.F2480F|DST_ENST00000312431.6_Silent_p.F2480F|DST_ENST00000446842.2_Silent_p.F2154F Q03001 DYST_HUMAN dystonin 2480 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) CATCCATAAGGAAATCCTGAA 0.388000 23 57 0 0 0.00229938 0 0 CLEC5A 23601 broad.mit.edu 37 7 141643748 141643748 + Silent SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr7:141643748C>T ENST00000546910.1 - 4 352 c.156G>A c.(154-156)ggG>ggA p.G52G CLEC5A_ENST00000551012.2_Intron|CLEC5A_ENST00000438351.1_Intron|CLEC5A_ENST00000470595.1_Intron|CLEC5A_ENST00000439991.1_Intron NM_013252.2 NP_037384.1 Q9NY25 CLC5A_HUMAN C-type lectin domain family 5, member A 52 anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development cell surface|integral to plasma membrane sugar binding|viral receptor activity endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1) 10 Melanoma(164;0.0171) GGGAACTGCTCCCAAAAATCT 0.438000 72 92 0 0 0.000781405 0 0 TONSL 4796 broad.mit.edu 37 8 145661974 145661974 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr8:145661974C>T ENST00000409379.3 - 16 2010 c.1981G>A c.(1981-1983)Gag>Aag p.E661K AC084125.4_ENST00000544423.1_RNA NM_013432.4 NP_038460.4 Q96HA7 TONSL_HUMAN tonsoku-like, DNA repair protein 661 cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing cytoplasm|nuclear replication fork histone binding|transcription corepressor activity biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1) 26 AGCAGCATCTCCATGGCCCTG 0.677000 10 39 0 0 0.00136819 0 0 TMEM61 199964 broad.mit.edu 37 1 55452004 55452004 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:55452004G>A ENST00000371268.3 + 2 524 c.250G>A c.(250-252)Ggc>Agc p.G84S RP11-12C17.2_ENST00000436960.1_RNA NM_182532.1 NP_872338.1 Q8N0U2 TMM61_HUMAN transmembrane protein 61 84 integral to membrane endometrium(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 4 GCTGCTCATTGGCCTGCTGTG 0.652000 41 105 0 0 0.00170553 0 0 ANK3 288 broad.mit.edu 37 10 61830452 61830452 + Missense_Mutation SNP G G T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr10:61830452G>T ENST00000280772.1 - 37 10378 c.10187C>A c.(10186-10188)tCc>tAc p.S3396Y ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 3396 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 GGTGGCAATGGAACACTCTGT 0.468000 32 43 4.62619e-21 2.29121e-20 0.000814825 1 0 COL2A1 1280 broad.mit.edu 37 12 48376908 48376908 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr12:48376908C>T ENST00000380518.3 - 32 2226 c.2062G>A c.(2062-2064)Gaa>Aaa p.E688K COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Missense_Mutation_p.E619K NM_001844.4|NM_033150.2 NP_001835.3|NP_149162.2 P02458 CO2A1_HUMAN collagen, type II, alpha 1 688 Triple-helical region. axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3) 64 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) GCTCCAGCTTCACCGGGAACA 0.577000 4 7 0 0 0.00024832 0 0 MED13L 23389 broad.mit.edu 37 12 116434479 116434479 + Nonsense_Mutation SNP G G T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr12:116434479G>T ENST00000281928.3 - 16 3004 c.2798C>A c.(2797-2799)tCa>tAa p.S933* NM_015335.4 NP_056150.1 Q71F56 MD13L_HUMAN mediator complex subunit 13-like 933 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 85 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0407) GTGCACATATGAAAAGTCCTG 0.418000 10 40 0.000673444 0.00327452 0.000673444 1 0 NPSR1 387129 broad.mit.edu 37 7 34698142 34698142 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr7:34698142G>A ENST00000360581.1 + 1 246 c.118G>A c.(118-120)Gaa>Aaa p.E40K NPSR1_ENST00000381539.3_Missense_Mutation_p.E40K|NPSR1_ENST00000531252.1_Missense_Mutation_p.E40K|NPSR1_ENST00000381542.1_Missense_Mutation_p.E40K|NPSR1_ENST00000359791.1_Missense_Mutation_p.E40K|AC005493.1_ENST00000399077.1_Intron|NPSR1_ENST00000465305.1_Missense_Mutation_p.E40K|NPSR1_ENST00000381553.3_Missense_Mutation_p.E40K|NPSR1-AS1_ENST00000419766.1_RNA NM_207172.1 NP_997055.1 Q6W5P4 NPSR1_HUMAN neuropeptide S receptor 1 40 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) GGAAGGAAAGGAATGGGGTTC 0.478000 11 56 0 0 0.00136819 0 0 MAPK6 5597 broad.mit.edu 37 15 52356250 52356250 + Nonsense_Mutation SNP G G T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr15:52356250G>T ENST00000261845.5 + 6 2026 c.1219G>T c.(1219-1221)Gaa>Taa p.E407* CTD-2184D3.5_ENST00000558607.1_RNA NM_002748.3 NP_002739.1 Q16659 MK06_HUMAN mitogen-activated protein kinase 6 407 cell cycle ATP binding|MAP kinase activity breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2) 20 all cancers(107;0.0028) TGGAGATCGGGAAAAGTATCT 0.403000 12 40 9.05144e-12 4.44536e-11 0.00185496 1 0 NMUR1 10316 broad.mit.edu 37 2 232390033 232390033 + Silent SNP G G A rs149953749 TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr2:232390033G>A ENST00000305141.4 - 3 1135 c.1002C>T c.(1000-1002)ttC>ttT p.F334F NM_006056.4 NP_006047.3 Q9HB89 NMUR1_HUMAN neuromedin U receptor 1 334 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction integral to plasma membrane|membrane fraction neuromedin U receptor activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1) 24 Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142) GCACGTGCTGGAAGGCCAGGT 0.632000 24 46 0 0 0.000586117 0 0 POMT1 10585 broad.mit.edu 37 9 134382804 134382804 + Silent SNP C C T rs138064523 byFrequency TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr9:134382804C>T ENST00000423007.1 + 5 772 c.330C>T c.(328-330)ctC>ctT p.L110L POMT1_ENST00000402686.3_Silent_p.L110L|POMT1_ENST00000404875.2_5'UTR|POMT1_ENST00000372228.3_Silent_p.L110L|POMT1_ENST00000419118.2_Intron|POMT1_ENST00000354713.4_Silent_p.L80L|POMT1_ENST00000341012.7_Silent_p.L56L|POMT1_ENST00000541219.1_Intron NM_001136113.1 NP_001129585.1 Q9Y6A1 POMT1_HUMAN protein-O-mannosyltransferase 1 110 multicellular organismal development|protein O-linked glycosylation endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 31 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259) TGCCAGCACTCGCGGGGGCCT 0.562000 33 60 0 0 0.00283554 0 0 PTPRT 11122 broad.mit.edu 37 20 41514563 41514563 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr20:41514563G>A ENST00000373198.3 - 2 333 c.98C>T c.(97-99)tCc>tTc p.S33F PTPRT_ENST00000373187.1_Missense_Mutation_p.S33F|PTPRT_ENST00000373190.1_Missense_Mutation_p.S33F|PTPRT_ENST00000373193.3_Missense_Mutation_p.S33F|PTPRT_ENST00000356100.2_Missense_Mutation_p.S33F|PTPRT_ENST00000485499.1_5'UTR|PTPRT_ENST00000373201.1_Missense_Mutation_p.S33F|PTPRT_ENST00000373184.1_Missense_Mutation_p.S33F NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 33 MAM. 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) CTCATCAAAGGAACAGCCACC 0.478000 27 47 0 0 0.00127121 0 0 BAIAP3 8938 broad.mit.edu 37 16 1395287 1395287 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr16:1395287C>T ENST00000324385.5 + 22 2241 c.2083C>T c.(2083-2085)Ccc>Tcc p.P695S BAIAP3_ENST00000562208.1_Missense_Mutation_p.P637S|BAIAP3_ENST00000421665.2_Missense_Mutation_p.P624S|BAIAP3_ENST00000426824.3_Missense_Mutation_p.P660S|BAIAP3_ENST00000397488.2_Missense_Mutation_p.P677S|BAIAP3_ENST00000568887.1_Missense_Mutation_p.P632S|BAIAP3_ENST00000397489.1_Missense_Mutation_p.P677S NM_003933.4 NP_003924.2 O94812 BAIP3_HUMAN BAI1-associated protein 3 695 MHD1. G-protein coupled receptor protein signaling pathway|neurotransmitter secretion protein C-terminus binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 Hepatocellular(780;0.0893) CATCCACGCCCCCTTCCTGCC 0.642000 19 52 0 0 0.000958276 0 0 CFTR 1080 broad.mit.edu 37 7 117254679 117254679 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr7:117254679G>A ENST00000003084.6 + 21 3512 c.3380G>A c.(3379-3381)gGa>gAa p.G1127E CFTR_ENST00000454343.1_Missense_Mutation_p.G1066E|AC000111.6_ENST00000456270.1_RNA NM_000492.3 NP_000483.3 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 1127 ABC transmembrane type-1 2. respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding p.G1127A(1) NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9) 69 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) GAAGGAGAAGGAAGAGTTGGT 0.398000 Cystic Fibrosis 14 68 0 0 0.000308642 0 0 RP1L1 94137 broad.mit.edu 37 8 10467773 10467773 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr8:10467773C>T ENST00000382483.3 - 4 4058 c.3835G>A c.(3835-3837)Gac>Aac p.D1279N NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 1279 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) TCCTCACTGTCTCTTTCTGCT 0.517000 43 108 0 0 0.000781405 0 0 TP53 7157 broad.mit.edu 37 17 7577082 7577082 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr17:7577082C>T ENST00000420246.2 - 8 988 c.856G>A c.(856-858)Gaa>Aaa p.E286K TP53_ENST00000455263.2_Missense_Mutation_p.E286K|TP53_ENST00000445888.2_Missense_Mutation_p.E286K|TP53_ENST00000269305.4_Missense_Mutation_p.E286K|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.E286K NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 286 Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity). E -> A (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.E286K(58)|p.E286*(22)|p.0?(8)|p.E286Q(5)|p.?(2)|p.E286fs*59(2)|p.E286fs*17(2)|p.R283fs*16(2)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.R283fs*56(1)|p.E285fs*13(1)|p.G279fs*59(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) AGATTCTCTTCCTCTGTGCGC 0.557000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 6 28 0 0 0.000157383 0 0 PLCB1 23236 broad.mit.edu 37 20 8717814 8717814 + Missense_Mutation SNP A A G TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr20:8717814A>G ENST00000378641.3 + 20 2658 c.2183A>G c.(2182-2184)gAa>gGa p.E728G PLCB1_ENST00000378637.2_Missense_Mutation_p.E728G|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000338037.6_Missense_Mutation_p.E728G NM_182734.1 NP_877398.1 Q9NQ66 PLCB1_HUMAN phospholipase C, beta 1 (phosphoinositide-specific) 728 C2. activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95 CCTGTCTGGGAAGAAGAACCT 0.378000 16 55 0 0 0.000958276 0 0 SDE2 163859 broad.mit.edu 37 1 226176046 226176046 + Nonsense_Mutation SNP C C A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:226176046C>A ENST00000272091.7 - 6 703 c.685G>T c.(685-687)Gag>Tag p.E229* SDE2_ENST00000366817.1_Nonsense_Mutation_p.E134* NM_152608.3 NP_689821.3 SDE2 telomere maintenance homolog (S. pombe) TCTGAACTCTCAGAGTTGGAC 0.453000 6 131 0.00198382 0.00948867 0.00198382 1 0 MAGEA10 4109 broad.mit.edu 37 X 151303936 151303936 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chrX:151303936G>A ENST00000370323.4 - 4 473 c.157C>T c.(157-159)Ccc>Tcc p.P53S RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_Missense_Mutation_p.P53S NM_001251828.1|NM_021048.4 NP_001238757.1|NP_066386.2 P43363 MAGAA_HUMAN melanoma antigen family A, 10 53 endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) gaggaggagggaaaagaggat 0.557000 12 47 0 0 0.000978159 0 0 TTN 7273 broad.mit.edu 37 2 179615354 179615354 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr2:179615354C>T ENST00000360870.5 - 46 11995 c.11773G>A c.(11773-11775)Gaa>Aaa p.E3925K TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 9745 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATGTTTTCTTCCTTCTGTTCG 0.338000 16 31 0 0 0.000308642 0 0 TTN 7273 broad.mit.edu 37 2 179584546 179584546 + Silent SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr2:179584546G>A ENST00000589042.1 - 82 23897 c.23673C>T c.(23671-23673)atC>atT p.I7891I TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.I7574I|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.I6647I NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 7574 Ig-like 61. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GCTTCTCTATGATTCTTGCTG 0.393000 9 24 0 0 0.000274275 0 0 RUVBL2 10856 broad.mit.edu 37 19 49507615 49507615 + Missense_Mutation SNP G G T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr19:49507615G>T ENST00000413176.2 + 4 1218 c.70G>T c.(70-72)Gcc>Tcc p.A24S RUVBL2_ENST00000601968.1_Missense_Mutation_p.A24S|RUVBL2_ENST00000595090.1_Missense_Mutation_p.A69S Q9Y230 RUVB2_HUMAN RuvB-like AAA ATPase 2 69 cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding large_intestine(1)|upper_aerodigestive_tract(1) 2 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047) AGGGAAGATTGCCGGTCGGGC 0.662000 20 54 8.04996e-18 3.9668e-17 0.00188189 1 0 POM121L12 285877 broad.mit.edu 37 7 53103666 53103666 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr7:53103666C>T ENST00000408890.4 + 1 318 c.302C>T c.(301-303)gCc>gTc p.A101V NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 101 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 AGGCGCCCTGCCCTTCCCGGG 0.726000 12 26 0 0 0.000978159 0 0 ASNS 440 broad.mit.edu 37 7 97488575 97488575 + Missense_Mutation SNP C C A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr7:97488575C>A ENST00000175506.4 - 6 1151 c.623G>T c.(622-624)cGg>cTg p.R208L ASNS_ENST00000437628.1_Missense_Mutation_p.R125L|ASNS_ENST00000394309.3_Missense_Mutation_p.R208L|ASNS_ENST00000444334.1_Missense_Mutation_p.R187L|ASNS_ENST00000422745.1_Missense_Mutation_p.R187L|ASNS_ENST00000394308.3_Missense_Mutation_p.R208L|ASNS_ENST00000455086.1_Missense_Mutation_p.R125L NM_183356.3 NP_899199.2 P08243 ASNS_HUMAN asparagine synthetase (glutamine-hydrolyzing) 208 cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle cytosol|soluble fraction asparagine synthase (glutamine-hydrolyzing) activity|ATP binding p.R208L(1) ovary(1) 1 all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369) Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) GGGTACATCCCGACAGTGATG 0.448000 5 146 0.00198382 0.00948867 0.00198382 1 0 GRIA4 2893 broad.mit.edu 37 11 105483100 105483100 + Silent SNP T T C TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr11:105483100T>C ENST00000393127.2 + 3 632 c.186T>C c.(184-186)ttT>ttC p.F62F GRIA4_ENST00000525187.1_Silent_p.F62F|GRIA4_ENST00000527669.1_Silent_p.F62F|GRIA4_ENST00000393125.2_Silent_p.F62F|GRIA4_ENST00000428631.2_Silent_p.F62F|GRIA4_ENST00000530497.1_Silent_p.F62F|GRIA4_ENST00000282499.5_Silent_p.F62F NM_001077243.2 NP_001070711.2 P48058 GRIA4_HUMAN glutamate receptor, ionotropic, AMPA 4 62 glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6) 82 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) AAGCTCCTTTTAATTTGGTAC 0.398000 31 47 0 0 0.000814825 0 0 INTS9 55756 broad.mit.edu 37 8 28627437 28627437 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr8:28627437G>A ENST00000416984.2 - 15 2065 c.1706C>T c.(1705-1707)cCt>cTt p.P569L INTS9_ENST00000397363.4_Missense_Mutation_p.P484L|INTS9_ENST00000521022.1_Missense_Mutation_p.P590L|INTS9_ENST00000521777.1_Missense_Mutation_p.P566L NM_001145159.2 NP_001138631.1 Q9NV88 INT9_HUMAN integrator complex subunit 9 590 snRNA processing integrator complex protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2) 19 Ovarian(32;0.0439) KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152) CTGCTCCACAGGGATGGAACC 0.607000 OREG0018682 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 24 54 0 0 0.000586117 0 0 OR10G8 219869 broad.mit.edu 37 11 123901097 123901097 + Silent SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr11:123901097C>T ENST00000431524.1 + 1 801 c.768C>T c.(766-768)ttC>ttT p.F256F NM_001004464.1 NP_001004464.1 Q8NGN5 O10G8_HUMAN olfactory receptor, family 10, subfamily G, member 8 256 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) CTGGTCTTTTCATTTACCTGA 0.557000 8 65 0 0 0.000274275 0 0 OR2M3 127062 broad.mit.edu 37 1 248366917 248366917 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:248366917C>T ENST00000456743.1 + 1 586 c.548C>T c.(547-549)tCc>tTc p.S183F NM_001004689.1 NP_001004689.1 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, member 3 183 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 50 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) GACTTCCCCTCCCTACTAATC 0.413000 125 119 0 0 0.000781405 0 0 LINS 55180 broad.mit.edu 37 15 101109526 101109526 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr15:101109526G>A ENST00000314742.8 - 7 2413 c.2191C>T c.(2191-2193)Ctt>Ttt p.L731F NM_001040616.2 NP_001035706.1 Q8NG48 LINES_HUMAN lines homolog (Drosophila) 731 central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4) 21 TATGGGAAAAGATTTTTCTTT 0.328000 29 79 0 0 0.00178596 0 0 OR13G1 441933 broad.mit.edu 37 1 247836218 247836218 + Silent SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:247836218G>A ENST00000359688.2 - 1 147 c.126C>T c.(124-126)atC>atT p.I42I RP11-634B7.4_ENST00000449298.1_RNA NM_001005487.1 NP_001005487.1 Q8NGZ3 O13G1_HUMAN olfactory receptor, family 13, subfamily G, member 1 42 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2) 35 all_cancers(71;3.24e-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) OV - Ovarian serous cystadenocarcinoma(106;0.017) TGGCAATGATGATGAGCATGT 0.423000 22 55 0 0 0.00229938 0 0 SMS 6611 broad.mit.edu 37 X 21997082 21997082 + Nonsense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chrX:21997082C>T ENST00000404933.2 + 7 1000 c.748C>T c.(748-750)Cag>Tag p.Q250* SMS_ENST00000379404.1_Nonsense_Mutation_p.Q197*|SMS_ENST00000415881.2_Nonsense_Mutation_p.Q154* NM_004595.4 NP_004586.2 P52788 SPSY_HUMAN spermine synthase 250 methionine metabolic process|spermine biosynthetic process cytosol spermidine synthase activity|spermine synthase activity endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(2) 14 Spermine(DB00127) AGACTGCTATCAGGTAATTGT 0.343000 19 88 0 0 0.00074312 0 0 NPAP1 23742 broad.mit.edu 37 15 24921643 24921643 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr15:24921643G>A ENST00000329468.2 + 1 1103 c.629G>A c.(628-630)gGa>gAa p.G210E NM_018958.2 NP_061831.2 nuclear pore associated protein 1 CCTCTGGAGGGAAATGTCTAC 0.612000 8 29 0 0 0.000442599 0 0 MRAP2 112609 broad.mit.edu 37 6 84765113 84765113 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr6:84765113G>A ENST00000257776.4 + 2 211 c.76G>A c.(76-78)Gaa>Aaa p.E26K NM_138409.2 NP_612418.2 Q96G30 MRAP2_HUMAN melanocortin 2 receptor accessory protein 2 26 positive regulation of cAMP biosynthetic process|protein localization at cell surface endoplasmic reticulum|plasma membrane corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 19 CTGGGAATATGAATATTATGA 0.383000 13 54 0 0 0.00136819 0 0 ADAP2 55803 broad.mit.edu 37 17 29283285 29283285 + Silent SNP T T C TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr17:29283285T>C ENST00000330889.3 + 10 1244 c.909T>C c.(907-909)ttT>ttC p.F303F ADAP2_ENST00000580525.1_Silent_p.F309F NM_018404.2 NP_060874.1 Q9NPF8 ADAP2_HUMAN ArfGAP with dual PH domains 2 303 PH 2. heart development|regulation of ARF GTPase activity mitochondrial envelope|plasma membrane ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding p.?(1) breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 13 GCCAGGTTTTTCTTGGGAACA 0.592000 10 45 0 0 0.000978159 0 0 TMEM56 148534 broad.mit.edu 37 1 95657412 95657412 + Silent SNP A A G TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:95657412A>G ENST00000370203.4 + 7 1071 c.780A>G c.(778-780)ggA>ggG p.G260G RP11-57H12.3_ENST00000419846.1_RNA|RP11-57H12.3_ENST00000421762.1_RNA|RP11-57H12.6_ENST00000604534.1_Intron NM_001199679.1|NM_152487.2 NP_001186608.1|NP_689700.1 Q96MV1 TMM56_HUMAN transmembrane protein 56 260 integral to membrane breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1) 12 all_lung(203;0.0232)|Lung NSC(277;0.0739) all cancers(265;0.133) TTCAGAATGGAAAACTTGATT 0.363000 11 21 0 0 0.000673444 0 0 USH1C 10083 broad.mit.edu 37 11 17542914 17542914 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr11:17542914C>T ENST00000005226.7 - 13 1063 c.1064G>A c.(1063-1065)aGa>aAa p.R355K USH1C_ENST00000318024.4_Missense_Mutation_p.R355K|USH1C_ENST00000527020.1_Missense_Mutation_p.R336K|USH1C_ENST00000527720.1_Missense_Mutation_p.R324K NM_153676.3 NP_710142.1 Q9Y6N9 USH1C_HUMAN Usher syndrome 1C (autosomal recessive, severe) 355 equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound apical part of cell|cytoplasm|stereocilium protein binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 48 CTTCCGGTATCTCTCATTTTC 0.502000 39 76 0 0 0.00195071 0 0 PLXNB3 5365 broad.mit.edu 37 X 153032887 153032887 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chrX:153032887C>T ENST00000538966.1 + 4 945 c.674C>T c.(673-675)cCc>cTc p.P225L PLXNB3_ENST00000538282.1_Intron|PLXNB3_ENST00000538776.1_Intron|PLXNB3_ENST00000361971.5_Missense_Mutation_p.P202L|PLXNB3_ENST00000538543.1_Intron NM_001163257.1 NP_001156729.1 Q9ULL4 PLXB3_HUMAN plexin B3 202 Sema. axon guidance integral to membrane|intracellular|plasma membrane protein binding|receptor activity central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) GGGGTGCCACCCCTGGCCATC 0.711000 4 25 0 0 0.00024832 0 0 AGPAT3 56894 broad.mit.edu 37 21 45402199 45402199 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr21:45402199C>T ENST00000398063.2 + 9 1549 c.1057C>T c.(1057-1059)Cgc>Tgc p.R353C AGPAT3_ENST00000546158.1_Missense_Mutation_p.R353C|AGPAT3_ENST00000327505.2_Missense_Mutation_p.R353C|AGPAT3_ENST00000291572.8_Missense_Mutation_p.R353C|AGPAT3_ENST00000398061.1_Missense_Mutation_p.R353C|AGPAT3_ENST00000398058.1_Missense_Mutation_p.R353C|AGPAT3_ENST00000479117.1_3'UTR NM_001037553.1 NP_001032642.1 Q9NRZ7 PLCC_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 3 353 phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane|plasma membrane 1-acylglycerol-3-phosphate O-acyltransferase activity p.R353C(1) large_intestine(4)|lung(5)|ovary(1)|prostate(1) 11 STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24) CTTTGGAGTTCGCAGACTGAT 0.448000 62 171 0 0 0.000781405 0 0 DDX10 1662 broad.mit.edu 37 11 108594053 108594053 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr11:108594053C>T ENST00000526794.1 + 13 1861 c.1829C>T c.(1828-1830)aCc>aTc p.T610I DDX10_ENST00000322536.3_Missense_Mutation_p.T610I Q13206 DDX10_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 610 ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity p.E594_E618del(1) breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2) 27 all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729) BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133) CTTCCTAACACCAGTGAGGCA 0.438000 T NUP98 AML* 16 21 0 0 0.000958276 0 0 GFPT1 2673 broad.mit.edu 37 2 69556549 69556549 + Silent SNP A A T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr2:69556549A>T ENST00000357308.4 - 17 1783 c.1605T>A c.(1603-1605)atT>atA p.I535I GFPT1_ENST00000361060.4_Silent_p.I517I NM_001244710.1 NP_001231639.1 Q06210 GFPT1_HUMAN glutamine--fructose-6-phosphate transaminase 1 535 dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding endometrium(1)|large_intestine(3)|lung(5)|skin(3) 12 GTACTTCCTTAATCAAATCTA 0.318000 9 15 0 0 0.000274275 0 0 DSC1 1823 broad.mit.edu 37 18 28710596 28710596 + Missense_Mutation SNP C C T rs147309022 TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr18:28710596C>T ENST00000257198.5 - 16 2827 c.2566G>A c.(2566-2568)Ggt>Agt p.G856S RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257197.3_3'UTR NM_024421.2 NP_077739.1 Q08554 DSC1_HUMAN desmocollin 1 856 homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 OV - Ovarian serous cystadenocarcinoma(10;0.00778) GCCAGAGAACCTTTGCCTTCA 0.438000 23 62 0 0 0.00229938 0 0 MAP3K10 4294 broad.mit.edu 37 19 40719021 40719021 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr19:40719021C>T ENST00000253055.3 + 8 2051 c.1763C>T c.(1762-1764)tCa>tTa p.S588L NM_002446.3 NP_002437.2 Q02779 M3K10_HUMAN mitogen-activated protein kinase kinase kinase 10 588 activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway cytoplasm ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 24 CAGTGGTCATCAAGTGCCCCC 0.622000 5 9 0 0 0.00116845 0 0 WIZ 58525 broad.mit.edu 37 19 15538022 15538022 + Silent SNP T T G TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr19:15538022T>G ENST00000389282.4 - 6 3636 c.3423A>C c.(3421-3423)ccA>ccC p.P1141P WIZ_ENST00000263381.6_Silent_p.P284P|WIZ_ENST00000599686.2_Silent_p.P325P|WIZ_ENST00000545156.1_Silent_p.P455P|WIZ_ENST00000599910.1_Silent_p.P458P O95785 WIZ_HUMAN widely interspaced zinc finger motifs 1141 Pro-rich. nucleus zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1) 24 CCGGTGGTGGTGGCAACTTCT 0.652000 9 45 0 0 0.000978159 0 0 THRB 7068 broad.mit.edu 37 3 24231772 24231772 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr3:24231772C>T ENST00000396671.2 - 5 424 c.76G>A c.(76-78)Gac>Aac p.D26N THRB_ENST00000416420.1_Missense_Mutation_p.D26N|THRB_ENST00000356447.4_Missense_Mutation_p.D26N NM_001128176.2 NP_001121648.1 P10828 THB_HUMAN thyroid hormone receptor, beta 26 Modulating. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding p.D26N(1) central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3) 19 Levothyroxine(DB00451)|Liothyronine(DB00279) AGCTTCCAGTCGTGTTCTCGG 0.493000 17 83 0 0 0.00074312 0 0 FCGBP 8857 broad.mit.edu 37 19 40408704 40408704 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr19:40408704G>A ENST00000221347.6 - 8 4142 c.4135C>T c.(4135-4137)Ccc>Tcc p.P1379S NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 1379 VWFD 3. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) TAGTTTCCGGGGACGGTGACC 0.582000 34 54 0 0 0.00058488 0 0 OR51F2 119694 broad.mit.edu 37 11 4842792 4842792 + Silent SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr11:4842792C>T ENST00000322110.5 + 1 242 c.177C>T c.(175-177)atC>atT p.I59I MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001004753.1 NP_001004753.1 Q8NH61 O51F2_HUMAN olfactory receptor, family 51, subfamily F, member 2 59 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) ATAGCATGATCCTGTTTGTGG 0.488000 16 153 0 0 0.000566183 0 0 SIKE1 80143 broad.mit.edu 37 1 115323135 115323135 + Nonsense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:115323135G>A ENST00000369528.5 - 1 171 c.94C>T c.(94-96)Cag>Tag p.Q32* SIKE1_ENST00000506320.1_5'UTR|SIKE1_ENST00000060969.5_Nonsense_Mutation_p.Q32* NM_001102396.1|NM_025073.2 NP_001095866.1|NP_079349.2 Q9BRV8 SIKE1_HUMAN suppressor of IKBKE 1 32 cytosol protein binding endometrium(1)|kidney(2)|large_intestine(1)|lung(2) 6 GCCGCCGACTGATCCACCAGC 0.657000 14 29 0 0 0.00244969 0 0 CYP4Z1 199974 broad.mit.edu 37 1 47564867 47564867 + Silent SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:47564867C>T ENST00000334194.3 + 8 981 c.978C>T c.(976-978)atC>atT p.I326I CYP4A22-AS1_ENST00000444042.2_lincRNA NM_178134.2 NP_835235.1 Q86W10 CP4Z1_HUMAN cytochrome P450, family 4, subfamily Z, polypeptide 1 326 endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1) 11 TCTCCTGGATCCTTTACTGCT 0.478000 22 35 0 0 0.00229938 0 0 CLEC5A 23601 broad.mit.edu 37 7 141635657 141635657 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr7:141635657C>T ENST00000546910.1 - 5 498 c.302G>A c.(301-303)gGa>gAa p.G101E CLEC5A_ENST00000551012.2_Missense_Mutation_p.G78E|CLEC5A_ENST00000438351.1_Missense_Mutation_p.G78E|CLEC5A_ENST00000470595.1_Intron|CLEC5A_ENST00000439991.1_Intron NM_013252.2 NP_037384.1 Q9NY25 CLC5A_HUMAN C-type lectin domain family 5, member A 101 C-type lectin. anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development cell surface|integral to plasma membrane sugar binding|viral receptor activity endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1) 10 Melanoma(164;0.0171) GGATCCTTTTCCTTTGCAAAA 0.443000 48 76 0 0 0.000781405 0 0 TTN 7273 broad.mit.edu 37 2 179583666 179583666 + Silent SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr2:179583666C>T ENST00000589042.1 - 84 24485 c.24261G>A c.(24259-24261)gtG>gtA p.V8087V TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.V7770V|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.V6843V NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 7770 Ig-like 63. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GCAAAACTTCCACAGAATCAG 0.473000 4 14 0 0 0.00024832 0 0 AIFM1 9131 broad.mit.edu 37 X 129263945 129263945 + Splice_Site SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chrX:129263945C>T ENST00000287295.3 - 15 2000 c.1770_splice c.e15+1 p.K590_splice AIFM1_ENST00000460436.2_Splice_Site_p.K251_splice|AIFM1_ENST00000440263.1_Splice_Site_p.K238_splice|AIFM1_ENST00000346424.2_Splice_Site_p.K303_splice|AIFM1_ENST00000319908.3_Splice_Site_p.K586_splice|AIFM1_ENST00000535724.1_3'UTR NM_001130847.3|NM_004208.3 NP_001124319.1|NP_004199.1 O95831 AIFM1_HUMAN apoptosis-inducing factor, mitochondrion-associated, 1 590 activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1) 30 AGGCACCTACCTTCCTTGCTA 0.502000 14 89 0 0 0.000566183 0 0 ITGA8 8516 broad.mit.edu 37 10 15639298 15639298 + Splice_Site SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr10:15639298C>T ENST00000378076.3 - 21 2472 c.2118_splice c.e21-1 p.G707_splice ITGA8_ENST00000477064.1_5'UTR NM_003638.1 NP_003629.1 P53708 ITA8_HUMAN integrin, alpha 8 707 cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 96 GGTCGAAATCCCTACAATTGC 0.498000 22 31 0 0 0.00229938 0 0 TMC2 117532 broad.mit.edu 37 20 2591073 2591073 + Silent SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr20:2591073C>T ENST00000358864.1 + 12 1437 c.1422C>T c.(1420-1422)atC>atT p.I474I TMC2_ENST00000496948.1_3'UTR NM_080751.2 NP_542789.2 Q8TDI7 TMC2_HUMAN transmembrane channel-like 2 474 integral to membrane NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 AGGTAGAGATCGTGATGTCCC 0.512000 37 126 0 0 0.0025221 0 0 KNTC1 9735 broad.mit.edu 37 12 123034322 123034322 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr12:123034322C>T ENST00000333479.7 + 13 1174 c.997C>T c.(997-999)Ctc>Ttc p.L333F KNTC1_ENST00000450485.2_Missense_Mutation_p.L296F NM_014708.4 NP_055523.1 P50748 KNTC1_HUMAN kinetochore associated 1 333 cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole protein binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 72 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217) GATGAAAAACCTCATGGTTTA 0.308000 3 8 0 0 6.4e-05 0 0 PLCB4 5332 broad.mit.edu 37 20 9402023 9402023 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr20:9402023C>T ENST00000378501.2 + 23 2213 c.2198C>T c.(2197-2199)aCc>aTc p.T733I PLCB4_ENST00000378473.3_Missense_Mutation_p.T745I|PLCB4_ENST00000414679.2_Missense_Mutation_p.T745I|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000278655.4_Missense_Mutation_p.T733I|PLCB4_ENST00000334005.3_Missense_Mutation_p.T733I|PLCB4_ENST00000378493.1_Missense_Mutation_p.T733I NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 733 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 CCCACTGACACCATACGTAAG 0.413000 23 47 0 0 0.00188189 0 0 UGT2B15 7366 broad.mit.edu 37 4 69535870 69535870 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr4:69535870G>A ENST00000338206.5 - 1 476 c.467C>T c.(466-468)cCc>cTc p.P156L NM_001076.3 NP_001067.2 P54855 UDB15_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B15 156 steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity CTCACCACAGGGATTAAGGGC 0.393000 92 244 0 0 0.000781405 0 0 OR13H1 347468 broad.mit.edu 37 X 130678868 130678868 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chrX:130678868C>T ENST00000338616.3 + 1 919 c.821C>T c.(820-822)tCa>tTa p.S274L NM_001004486.1 NP_001004486.1 Q8NG92 O13H1_HUMAN olfactory receptor, family 13, subfamily H, member 1 274 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1) 15 Acute lymphoblastic leukemia(192;0.000636) AAGTTTATCTCAGTGTTTTAT 0.433000 40 96 0 0 0.00195071 0 0 OR4M2 390538 broad.mit.edu 37 15 22369378 22369378 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr15:22369378C>T ENST00000332663.2 + 1 901 c.803C>T c.(802-804)tCc>tTc p.S268F RP11-69H14.6_ENST00000558896.1_RNA NM_001004719.2 NP_001004719.2 Q8NGB6 OR4M2_HUMAN olfactory receptor, family 4, subfamily M, member 2 268 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S268F(1) NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 63 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) GACTCGTTTTCCCTAGATAAA 0.423000 26 118 0 0 0.00106085 0 0 MORC1 27136 broad.mit.edu 37 3 108724118 108724118 + Silent SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr3:108724118C>T ENST00000232603.5 - 19 1894 c.1812G>A c.(1810-1812)ttG>ttA p.L604L MORC1_ENST00000483760.1_Silent_p.L583L NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 604 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 ATTCATGCTTCAAGTCATCGC 0.343000 16 35 0 0 0.000566183 0 0 CSN2 1447 broad.mit.edu 37 4 70823276 70823276 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr4:70823276G>A ENST00000353151.3 - 5 402 c.391C>T c.(391-393)Cca>Tca p.P131S NM_001891.2 NP_001882.1 P05814 CASB_HUMAN casein beta 131 calcium ion transport extracellular region calcium ion binding|enzyme inhibitor activity|transporter activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2) 12 GTGAGTTTTGGGATTTGAGGG 0.468000 13 45 0 0 0.00185496 0 0 OSBPL7 114881 broad.mit.edu 37 17 45892672 45892672 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr17:45892672G>A ENST00000007414.3 - 13 1357 c.1166C>T c.(1165-1167)tCg>tTg p.S389L OSBPL7_ENST00000392507.3_Missense_Mutation_p.S389L NM_145798.2 NP_665741.1 Q9BZF2 OSBL7_HUMAN oxysterol binding protein-like 7 389 lipid transport lipid binding autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 GCTGGTCTGCGATAGCTGGGG 0.607000 6 11 0 0 0.000274275 0 0 C1orf173 127254 broad.mit.edu 37 1 75037784 75037784 + Frame_Shift_Del DEL G G - TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:75037784delG ENST00000326665.5 - 14 3828 c.3610delC c.(3610-3612)tgfs p.L1204fs C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 1204 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 CCTTCCTTCAGGGCCCTATTC 0.587 48 149 --- --- --- --- KIAA1715 80856 broad.mit.edu 37 2 176857060 176857060 + Frame_Shift_Del DEL A A - TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr2:176857060delA ENST00000272748.4 - 4 403 c.156delT c.(154-156)gtfs p.V52fs KIAA1715_ENST00000535310.1_5'UTR|KIAA1715_ENST00000544803.1_Frame_Shift_Del_p.V52fs NM_030650.1 NP_085153.1 Q9C0E8 LNP_HUMAN KIAA1715 52 integral to membrane protein binding endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1) 20 OV - Ovarian serous cystadenocarcinoma(117;0.0793) ACAGATAGAGAACTGAGGAAT 0.323 14 40 --- --- --- --- KLHL24 54800 broad.mit.edu 37 3 183390139 183390139 + Frame_Shift_Del DEL T T - TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr3:183390139delT ENST00000454652.1 + 8 1855 c.1469delT c.(1468-1470)atfs p.I490fs KLHL24_ENST00000242810.6_Frame_Shift_Del_p.I490fs|KLHL24_ENST00000476808.1_Frame_Shift_Del_p.I490fs Q6TFL4 KLH24_HUMAN kelch-like family member 24 490 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) GCTATCCCAATTGCCAAAAGG 0.348 9 72 --- --- --- --- TPRN 286262 broad.mit.edu 37 9 140094220 140094221 + Frame_Shift_Ins INS - - GG TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr9:140094220_140094221insGG ENST00000409012.4 - 1 1029_1030 c.943_944insCC c.(943-945)ccafs p.P315fs TPRN_ENST00000321773.2_Frame_Shift_Ins_p.P254fs|TPRN_ENST00000541945.1_Intron NM_001128228.2 NP_001121700.2 Q4KMQ1 TPRN_HUMAN taperin 315 sensory perception of sound stereocilium breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2) 8 CCGGGCCTGGAGGTCCCCCAAG 0.653 9 23 --- --- --- --- SLCO1C1 53919 broad.mit.edu 37 12 20874883 20874883 + Frame_Shift_Del DEL T T - TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr12:20874883delT ENST00000381552.1 + 8 1289 c.921delT c.(919-921)gafs p.D307fs SLCO1C1_ENST00000540354.1_Frame_Shift_Del_p.D258fs|SLCO1C1_ENST00000545604.1_Frame_Shift_Del_p.D307fs|SLCO1C1_ENST00000266509.2_Frame_Shift_Del_p.D307fs|SLCO1C1_ENST00000545102.1_Frame_Shift_Del_p.D189fs Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, member 1C1 307 sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 60 Esophageal squamous(101;0.149) GTAGAGAGGATTCTAATTCTT 0.398 9 33 --- --- --- --- ERBB3 2065 broad.mit.edu 37 12 56490961 56490962 + Frame_Shift_Ins INS - - G TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr12:56490961_56490962insG ENST00000267101.3 + 20 2847_2848 c.2407_2408insG c.(2407-2409)gggfs p.G803fs ERBB3_ENST00000553131.1_Frame_Shift_Ins_p.G44fs|ERBB3_ENST00000450146.2_Frame_Shift_Ins_p.G160fs|ERBB3_ENST00000415288.2_Frame_Shift_Ins_p.G744fs NM_001982.3 NP_001973.2 P21860 ERBB3_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3 803 Protein kinase. cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) GAGACAACACCGGGGGGCACTG 0.540 21 65 --- --- --- --- SLC23A2 9962 broad.mit.edu 37 20 4850569 4850569 + Frame_Shift_Del DEL G G - rs138961929 TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr20:4850569delG ENST00000379333.1 - 12 1625 c.1233delC c.(1231-1233)ccfs p.P411fs SLC23A2_ENST00000424750.2_Frame_Shift_Del_p.P297fs|SLC23A2_ENST00000338244.1_Frame_Shift_Del_p.P411fs|SLC23A2_ENST00000468355.1_5'UTR NM_203327.1 NP_976072.1 Q9UGH3 S23A2_HUMAN solute carrier family 23 (ascorbic acid transporter), member 2 411 L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport apical plasma membrane|integral to plasma membrane|membrane fraction nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity p.I412fs*4(1) endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 TTGCGTGGATGGGGGGGGGTG 0.527 9 156 --- --- --- --- MAGEC1 9947 broad.mit.edu 37 X 140994844 140994846 + In_Frame_Del DEL CCT CCT - TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chrX:140994844_140994846delCCT ENST00000285879.4 + 4 1940_1942 c.1654_1656delCCT c.(1654-1656)del p.P553del MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 553 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TCCTCAGAGCCCTCCTCAGGGGG 0.567 HNSCC(15;0.026) 9 381 --- --- --- --- CD99L2 83692 broad.mit.edu 37 X 149937526 149937528 + In_Frame_Del DEL GGC GGC - rs7877654 byFrequency TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chrX:149937526_149937528delGGC ENST00000370377.3 - 11 885_887 c.768_770delGCC c.(766-771)ccc>cc p.PP256del CD99L2_ENST00000355149.3_In_Frame_Del_p.PP184del|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000466436.1_In_Frame_Del_p.PP207del|CD99L2_ENST00000437787.2_In_Frame_Del_p.PP183del NM_001242614.1|NM_031462.3 NP_001229543.1|NP_113650.2 Q8TCZ2 C99L2_HUMAN CD99 molecule-like 2 256 Poly-Pro. cell adhesion cell junction|integral to membrane endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) GGCTGGTTCGGGCGGCGGCGGCG 0.611 7 241 --- --- --- ---