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 validation_method t_ref_count validation_status validation_tumor_sample t_alt_count validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut CTAGE1 64693 broad.mit.edu 37 18 19997484 19997484 + Silent SNP C T T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr18:19997484C>T uc002ktv.1 - 0 395 c.291G>A c.(289-291)ttG>ttA p.L97L NM_172241 NP_758441 Q96RT6 CTGE2_HUMAN Homo sapiens cutaneous T-cell lymphoma-associated antigen 1 (CTAGE1), transcript variant 1, mRNA. 97 integral to membrane cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1) 27 all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135) AGGTTGCCTCCAAACTTTGTG 0.368000 113 73 0 0 0.003610 0 0 KIAA1210 57481 broad.mit.edu 37 X 118222293 118222293 + Missense_Mutation SNP G A A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chrX:118222293G>A uc004era.4 - 10 2900 c.2900C>T c.(2899-2901)cCa>cTa p.P967L NM_020721 NP_065772 Q9ULL0 K1210_HUMAN Homo sapiens KIAA1210 (KIAA1210), mRNA. 967 breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 64 CATGCTCTTTGGAGATGAGGA 0.458000 35 23 0 0 0.002780 0 0 PRSS57 400668 broad.mit.edu 37 19 691996 691996 + Silent SNP G A A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr19:691996G>A uc002lpl.1 - 2 274 c.243C>T c.(241-243)ctC>ctT p.L81L PRSS57_uc010xfs.1_Silent_p.L80L NM_214710 NP_999875 Q6UWY2 PRS57_HUMAN Homo sapiens protease, serine, 57 (PRSS57), mRNA. 81 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity central_nervous_system(1)|lung(5) 6 GGCCAGTGCGGAGGTCTCTGC 0.672000 5 13 0 0 0.002450 0 0 CPEB3 22849 broad.mit.edu 37 10 93851681 93851681 + Silent SNP G A A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr10:93851681G>A uc001khw.2 - 7 1797 c.1593C>T c.(1591-1593)aaC>aaT p.N531N CPEB3_uc001khu.2_Silent_p.N540N|CPEB3_uc001khv.2_Silent_p.N517N|CPEB3_uc010qnn.2_Silent_p.N517N NM_014912 NP_055727 Q8NE35 CPEB3_HUMAN Homo sapiens cytoplasmic polyadenylation element binding protein 3 (CPEB3), transcript variant 1, mRNA. 531 RRM 1. RNA binding|nucleotide binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2) 18 Colorectal(252;0.0869) TGTCACTTAGGTTCCATGGTC 0.433000 12 21 0 0 0.002780 0 0 EPHA6 285220 broad.mit.edu 37 3 97356761 97356761 + Silent SNP C T T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr3:97356761C>T uc010how.1 + 13 2662 c.2619C>T c.(2617-2619)ctC>ctT p.L873L EPHA6_uc011bgp.1_3'UTR|EPHA6_uc003drs.4_Silent_p.L265L|EPHA6_uc003drr.4_Silent_p.L265L|EPHA6_uc003drt.3_Silent_p.L265L|EPHA6_uc010hox.1_Non-coding_Transcript NM_001080448 NP_001073917 Q9UF33 EPHA6_HUMAN Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA. 778 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 TCGGAATGCTCCGAGGCATTG 0.428000 164 24 0 0 0.007291 0 0 DNAH9 1770 broad.mit.edu 37 17 11648187 11648187 + Missense_Mutation SNP C T T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr17:11648187C>T uc002gne.3 + 30 6253 c.6185C>T c.(6184-6186)cCt>cTt p.P2062L DNAH9_uc010coo.3_Missense_Mutation_p.P1356L NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA. 2062 cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.P2062S(1) NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) AGAGGAGACCCTGACCGGCCT 0.577000 19 15 0 0 0.004007 0 0 GABRG1 2565 broad.mit.edu 37 4 46043129 46043129 + Missense_Mutation SNP C T T rs75184362 TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr4:46043129C>T uc003gxb.3 - 8 1426 c.1274G>A c.(1273-1275)gGa>gAa p.G425E NM_173536 NP_775807 Q8N1C3 GBRG1_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA. 425 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity p.T424K(1) breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) CCTCCAAGATCCTGTTCTGCA 0.408000 60 51 0 0 0.003610 0 0 FANCE 2178 broad.mit.edu 37 6 35427183 35427183 + Missense_Mutation SNP C T T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr6:35427183C>T uc003oko.1 + 5 1374 c.1189C>T c.(1189-1191)Cct>Tct p.P397S FANCE_uc010jvw.1_Missense_Mutation_p.P390S NM_021922 NP_068741 Q9HB96 FANCE_HUMAN Homo sapiens Fanconi anemia, complementation group E (FANCE), mRNA. 397 DNA repair nucleoplasm protein binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2) 13 ATATACATACCCTGTCTGCAG 0.567000 """N, F, S""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 51 21 0 0 0.010504 0 0 KRT78 196374 broad.mit.edu 37 12 53237949 53237949 + Silent SNP C T T rs140207612 TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr12:53237949C>T uc001sbc.1 - 5 1039 c.975G>A c.(973-975)acG>acA p.T325T NM_173352 NP_775487 Q8N1N4 K2C78_HUMAN Homo sapiens keratin 78 (KRT78), mRNA. 325 Coil 2.|Rod. keratin filament protein binding|structural molecule activity endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 18 TCTGGACTTTCGTTTCCTGCA 0.532000 104 51 0 0 0.003610 0 0 OPCML 4978 broad.mit.edu 37 11 132812919 132812919 + Silent SNP G A A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr11:132812919G>A uc010sck.2 - 0 119 c.69C>T c.(67-69)ttC>ttT p.F23F OPCML_uc001qgu.3_Intron|OPCML_uc001qgs.3_Silent_p.F23F|OPCML_uc001qgt.3_Silent_p.F23F|OPCML_uc010scl.2_Intron NM_002545 NP_002536 Q14982 OPCM_HUMAN Homo sapiens opioid binding protein/cell adhesion molecule-like (OPCML), transcript variant 1, mRNA. 23 cell adhesion|neuron recognition anchored to membrane|integral to plasma membrane opioid receptor activity endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8) 47 all_hematologic(175;0.019) all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129) all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012) TGGGTACAAGGAACAGCAGCC 0.632000 41 15 0 0 0.004007 0 0 WDR17 116966 broad.mit.edu 37 4 177067188 177067188 + Silent SNP T A A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr4:177067188T>A uc003iuj.3 + 12 1947 c.1644T>A c.(1642-1644)gtT>gtA p.V548V WDR17_uc003ium.4_Silent_p.V524V|WDR17_uc003iul.2_Intron NM_170710 NP_733828 Q8IZU2 WDR17_HUMAN Homo sapiens WD repeat domain 17 (WDR17), transcript variant 1, mRNA. 548 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 92 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) ATGTTCGTGTTTATTATGTAG 0.353000 28 21 0 0 0.002780 0 0 CD80 941 broad.mit.edu 37 3 119256060 119256060 + Missense_Mutation SNP C G G TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr3:119256060C>G uc003ecq.3 - 3 1019 c.624G>C c.(622-624)atG>atC p.M208I CD80_uc010hqt.1_Missense_Mutation_p.M208I|CD80_uc010hqu.1_Intron NM_005191 NP_005182 P33681 CD80_HUMAN Homo sapiens CD80 molecule (CD80), mRNA. 208 Ig-like C2-type. T cell costimulation|interspecies interaction between organisms|intracellular signal transduction|positive regulation of T-helper 1 cell differentiation|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of signal transduction|positive regulation of transcription, DNA-dependent intracellular coreceptor activity|protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2) 12 Abatacept(DB01281) GGTTGGTTGTCATATTGAAAT 0.403000 44 80 0 0 0.003610 0 0 DOK1 1796 broad.mit.edu 37 2 74782574 74782574 + Silent SNP C T T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr2:74782574C>T uc002sms.3 + 1 724 c.354C>T c.(352-354)gcC>gcT p.A118A LOXL3_uc010ffm.1_5'Flank|LOXL3_uc002smp.1_5'Flank|LOXL3_uc002smq.1_5'Flank|LOXL3_uc010ffn.1_5'Flank|DOK1_uc002smr.3_5'UTR|DOK1_uc010ffo.3_5'UTR|DOK1_uc002smt.3_5'UTR|DOK1_uc002smu.3_5'UTR|DOK1_uc010yrz.2_Silent_p.A107A|DOK1_uc002smw.1_5'UTR NM_001381 NP_001184189 Q99704 DOK1_HUMAN Homo sapiens docking protein 1, 62kDa (downstream of tyrosine kinase 1) (DOK1), transcript variant 1, mRNA. 118 PH. fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway cytosol|perinuclear region of cytoplasm insulin receptor binding endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 GCCGAAACGCCTTTCCGGTGA 0.682000 12 14 0 0 0.001855 0 0 MGAT5B 146664 broad.mit.edu 37 17 74944062 74944062 + Missense_Mutation SNP T C C TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr17:74944062T>C uc002jti.3 + 14 2204 c.2101T>C c.(2101-2103)Tgg>Cgg p.W701R MGAT5B_uc002jth.3_Missense_Mutation_p.W690R|MGAT5B_uc002jtj.3_Missense_Mutation_p.W97R NM_198955 NP_945193 Q3V5L5 MGT5B_HUMAN Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B (MGAT5B), transcript variant 2, mRNA. 692 Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CCTGCGGGCCTGGCTGGCCGT 0.697000 14 7 0 0 0.001984 0 0 APBA2 321 broad.mit.edu 37 15 29346463 29346463 + Missense_Mutation SNP G T T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr15:29346463G>T uc001zck.3 + 2 580 c.376G>T c.(376-378)Gca>Tca p.A126S APBA2_uc010azj.2_Missense_Mutation_p.A126S|APBA2_uc010uat.2_Missense_Mutation_p.A126S|APBA2_uc001zcl.3_Missense_Mutation_p.A126S|APBA2_uc010uas.1_Missense_Mutation_p.A126S NM_005503 NP_005494 Q99767 APBA2_HUMAN Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 2 (APBA2), transcript variant 1, mRNA. 126 nervous system development|protein transport protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1) 59 all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234) all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24) GGCCCACAGTGCACACCCTGT 0.657000 62 16 9.16793e-09 9.52466e-09 0.004990 1 0 SPEG 10290 broad.mit.edu 37 2 220349085 220349085 + Silent SNP C T T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr2:220349085C>T uc010fwg.3 + 29 6900 c.6900C>T c.(6898-6900)ccC>ccT p.P2300P NM_005876 NP_005867 Q15772 SPEG_HUMAN Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA. 2300 Pro-rich. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) CCGGGGGTCCCCCGGTGCTAG 0.692000 14 12 0 0 0.001855 0 0 OR52B6 340980 broad.mit.edu 37 11 5602813 5602813 + Missense_Mutation SNP C T T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr11:5602813C>T uc010qzi.2 + 0 707 c.707C>T c.(706-708)tCc>tTc p.S236F HBG1_uc001mak.1_Intron NM_001005162 NP_001005162 Q8NGF0 O52B6_HUMAN Homo sapiens olfactory receptor, family 52, subfamily B, member 6 (OR52B6), mRNA. 236 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1) 12 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ATTACTGTTTCCTACATCCAC 0.502000 150 41 0 0 0.009718 0 0 KIAA0754 643314 broad.mit.edu 37 1 39879438 39879438 + Silent SNP G A A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr1:39879438G>A uc009vvt.1 + 0 4263 c.3501G>A c.(3499-3501)gaG>gaA p.E1167E MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc021olw.1_Intron NM_015038 NP_055853 O94854 K0754_HUMAN Homo sapiens KIAA0754 (KIAA0754), mRNA. 1031 Ala-rich. central_nervous_system(1)|large_intestine(6)|skin(1) 8 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CCACCCCCGAGGAATCTGCCT 0.667000 28 5 0 0 0.001984 0 0 ZNF718 255403 broad.mit.edu 37 4 59415 59415 + Silent SNP G A A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr4:59415G>A uc003fzv.1 + 1 252 c.96G>A c.(94-96)gtG>gtA p.V32V ZNF718_uc003fzt.4_Silent_p.V32V|ZNF718_uc003fzu.1_Non-coding_Transcript|ZNF718_uc010iay.1_Non-coding_Transcript|ZNF718_uc011bus.1_5'UTR|ZNF718_uc011but.1_Intron NM_182524 NP_872330 Q3SXZ3 ZN718_HUMAN Homo sapiens zinc finger protein 595 (ZNF595), mRNA. 32 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18) ATAGAGATGTGATGTTGGAGA 0.428000 462 35 0 0 0.004878 0 0 NEB 4703 broad.mit.edu 37 2 152500514 152500514 + Missense_Mutation SNP C T T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr2:152500514C>T uc021vrb.1 - 54 7803 c.7774G>A c.(7774-7776)Gac>Aac p.D2592N NEB_uc002txu.3_Missense_Mutation_p.D2592N|NEB_uc021vrc.1_Missense_Mutation_p.D2592N|NEB_uc010fnx.3_Missense_Mutation_p.D2592N|NEB_uc021vrd.1_Missense_Mutation_p.D2592N NM_004543 NP_004534 P20929 NEBU_HUMAN Homo sapiens nebulin (NEB), transcript variant 3, mRNA. 2592 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development Z disc|actin cytoskeleton|cytosol actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) TTCTCAAAGTCCTTCTTGTAC 0.542000 352 132 0 0 0.003610 0 0 TNFRSF8 943 broad.mit.edu 37 1 12183362 12183362 + Missense_Mutation SNP C T T rs148865579 TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr1:12183362C>T uc001atq.3 + 8 1190 c.968C>T c.(967-969)aCc>aTc p.T323I TNFRSF8_uc010obc.2_Missense_Mutation_p.T212I|TNFRSF8_uc001atr.3_5'Flank|TNFRSF8_uc001ats.3_5'Flank NM_001243 NP_001234 P28908 TNR8_HUMAN Homo sapiens tumor necrosis factor receptor superfamily, member 8 (TNFRSF8), transcript variant 1, mRNA. 323 cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of TRAIL biosynthetic process|positive regulation of apoptosis|positive regulation of tumor necrosis factor biosynthetic process cytoplasm|integral to membrane|plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 27 Ovarian(185;0.249) Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649) AAGGACACCACCTTTGAGGCG 0.612000 17 16 0 0 0.006122 0 0 PASK 23178 broad.mit.edu 37 2 242077391 242077391 + Missense_Mutation SNP G A A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr2:242077391G>A uc002wao.2 - 5 986 c.853C>T c.(853-855)Cct>Tct p.P285S PASK_uc010zol.2_Missense_Mutation_p.P99S|PASK_uc010zom.2_Missense_Mutation_p.P250S|PASK_uc010fzl.2_Missense_Mutation_p.P285S|PASK_uc010zon.2_Missense_Mutation_p.P66S|PASK_uc021vzf.1_Missense_Mutation_p.P285S|PASK_uc002waq.3_Missense_Mutation_p.P285S NM_015148 NP_055963 Q96RG2 PASK_HUMAN Homo sapiens PAS domain containing serine/threonine kinase (PASK), transcript variant 2, mRNA. 285 regulation of transcription, DNA-dependent Golgi apparatus ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2) 53 all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968) TGGCCAGAAGGAGGGAGCTGC 0.562000 37 28 0 0 0.006320 0 0 TUBGCP2 10844 broad.mit.edu 37 10 135095737 135095737 + Missense_Mutation SNP A C C TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr10:135095737A>C uc010qvc.1 - 16 2840 c.2483T>G c.(2482-2484)cTc>cGc p.L828R TUBGCP2_uc001lmf.1_Missense_Mutation_p.L393R|TUBGCP2_uc001lmg.1_Missense_Mutation_p.L800R|TUBGCP2_uc010qvd.1_Missense_Mutation_p.L670R|TUBGCP2_uc009ybk.1_Missense_Mutation_p.L823R|TUBGCP2_uc001lmh.1_Non-coding_Transcript NM_006659 NP_006650 Q9BSJ2 GCP2_HUMAN Homo sapiens tubulin, gamma complex associated protein 2 (TUBGCP2), mRNA. 800 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) CTTCCTGGCGAGCTCCTTCCG 0.682000 8 8 0 0 0.003080 0 0 abParts 0 broad.mit.edu 37 14 106848908 106848908 + Splice_Site SNP G A A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr14:106848908G>A uc021ser.1 - 471 c.14156_splice c.e471-1 Parts of antibodies, mostly variable regions. GGTGAATCCAGAGGCTGCAAA 0.502000 9 10 0 0 0.006214 0 0 CD80 941 broad.mit.edu 37 3 119256003 119256003 + Missense_Mutation SNP C G G TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr3:119256003C>G uc003ecq.3 - 3 1076 c.681G>C c.(679-681)caG>caC p.Q227H CD80_uc010hqt.1_Missense_Mutation_p.Q227H|CD80_uc010hqu.1_Intron NM_005191 NP_005182 P33681 CD80_HUMAN Homo sapiens CD80 molecule (CD80), mRNA. 227 Ig-like C2-type. T cell costimulation|interspecies interaction between organisms|intracellular signal transduction|positive regulation of T-helper 1 cell differentiation|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of signal transduction|positive regulation of transcription, DNA-dependent intracellular coreceptor activity|protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2) 12 Abatacept(DB01281) AGTTGAAGGTCTGATTCACTC 0.368000 41 73 0 0 0.003610 0 0 C7 730 broad.mit.edu 37 5 40945307 40945307 + Missense_Mutation SNP T C C TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr5:40945307T>C uc003jmh.3 + 6 689 c.575T>C c.(574-576)aTa>aCa p.I192T C7_uc011cpn.1_Intron NM_000587 NP_000578 P10643 CO7_HUMAN Homo sapiens complement component 7 (C7), mRNA. 192 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex Ovarian(839;0.0112) TAGGTGAAAATAAATAATGAT 0.303000 2 4 0 0 0.009096 0 0 TBC1D3P2 440452 broad.mit.edu 37 17 60342294 60342294 + RNA SNP A C C rs76100965 TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr17:60342294A>C uc010woz.2 - 13 c.1835T>G Homo sapiens TBC1 domain family, member 3 pseudogene 2 (TBC1D3P2), non-coding RNA. breast(2)|kidney(1)|lung(2) 5 TAAGTTTAACAAAAAATAAAA 0.483000 105 4 0 0 0.004482 0 0 MAP4K3 8491 broad.mit.edu 37 2 39507459 39507459 + Silent SNP G A A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr2:39507459G>A uc002rro.3 - 22 1759 c.1668C>T c.(1666-1668)ccC>ccT p.P556P MAP4K3_uc002rrp.3_Silent_p.P535P|MAP4K3_uc010yns.2_Silent_p.P109P NM_003618 NP_003609 Q8IVH8 M4K3_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase kinase 3 (MAP4K3), mRNA. 556 CNH. JNK cascade ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_hematologic(82;0.211) GAATTTTCAAGGGACACCCAT 0.328000 26 27 0 0 0.002096 0 0 LRRC4C 57689 broad.mit.edu 37 11 40136259 40136259 + Silent SNP G A A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr11:40136259G>A uc021qgf.1 - 0 1584 c.1584C>T c.(1582-1584)atC>atT p.I528I LRRC4C_uc001mxc.1_Silent_p.I524I|LRRC4C_uc001mxd.1_Silent_p.I524I|LRRC4C_uc001mxa.1_Silent_p.I528I|LRRC4C_uc001mxb.1_Silent_p.I524I NM_020929 NP_065980 Q9HCJ2 LRC4C_HUMAN Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA. 528 regulation of axonogenesis integral to membrane protein binding NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) ACCCAATGATGATTTTGGTAG 0.478000 39 48 0 0 0.003610 0 0 TBX18 9096 broad.mit.edu 37 6 85457732 85457732 + Missense_Mutation SNP G A A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr6:85457732G>A uc003pkl.1 - 4 845 c.845C>T c.(844-846)tCt>tTt p.S282F TBX18_uc010kbq.2_Missense_Mutation_p.S124F NM_001080508 NP_001073977 O95935 TBX18_HUMAN Homo sapiens T-box 18 (TBX18), mRNA. 282 multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3) 61 all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858) BRCA - Breast invasive adenocarcinoma(108;0.0267) CTTGATGGGAGAAAGATCGTC 0.448000 20 6 0 0 0.001168 0 0 GUCY2F 2986 broad.mit.edu 37 X 108673535 108673535 + Splice_Site SNP C T T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chrX:108673535C>T uc022cch.1 - 7 1876 c.1791_splice c.e7+1 p.M597_splice GUCY2F_uc011msq.2_Splice_Site|GUCY2F_uc004eod.4_Splice_Site_p.M597_splice NM_001522 NP_001513 P51841 GUC2F_HUMAN Homo sapiens guanylate cyclase 2F, retinal (GUCY2F), mRNA. 597 Protein kinase. intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1) 67 ATTTCTCATACCATTTCGAAC 0.378000 66 83 0 0 0.003610 0 0 MRC2 9902 broad.mit.edu 37 17 60757548 60757548 + Silent SNP C T T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr17:60757548C>T uc002jad.3 + 14 2718 c.2316C>T c.(2314-2316)ttC>ttT p.F772F MRC2_uc010ddq.1_Non-coding_Transcript|MRC2_uc002jae.3_5'Flank|MRC2_uc002jaf.3_5'Flank NM_006039 NP_006030 Q9UBG0 MRC2_HUMAN Homo sapiens mannose receptor, C type 2 (MRC2), mRNA. 772 C-type lectin 4. endocytosis integral to membrane receptor activity|sugar binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3) 53 ACCACAATTTCGACCGGAGCC 0.647000 35 41 0 0 0.009718 0 0 QPRT 23475 broad.mit.edu 37 16 29708339 29708339 + Missense_Mutation SNP C G G TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr16:29708339C>G uc002dto.3 + 2 650 c.572C>G c.(571-573)gCg>gGg p.A191G BOLA2_uc010bzb.1_Intron|QPRT_uc010vdu.2_Non-coding_Transcript NM_014298 NP_055113 Q15274 NADC_HUMAN Homo sapiens quinolinate phosphoribosyltransferase (QPRT), mRNA. 191 protein oligomerization|quinolinate catabolic process|water-soluble vitamin metabolic process cytosol nicotinate-nucleotide diphosphorylase (carboxylating) activity|protein homodimerization activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5) 9 Niacin(DB00627) GCCAGACAGGCGGCTGACTTC 0.687000 18 12 0 0 0.001855 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140214118 140214118 + Silent SNP G A A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr5:140214118G>A uc003lhq.2 + 0 150 c.150G>A c.(148-150)caG>caA p.Q50Q PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dac.2_Silent_p.Q50Q NM_018910 NP_061733 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA. 63 Cadherin 1. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCATCGCGCAGGACCTGGGGC 0.592000 22 71 0 0 0.003610 0 0 MCM10 55388 broad.mit.edu 37 10 13224936 13224936 + Missense_Mutation SNP A G G TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr10:13224936A>G uc001ima.3 + 7 1065 c.937A>G c.(937-939)Aaa>Gaa p.K313E MCM10_uc001imb.3_Missense_Mutation_p.K312E|MCM10_uc001imc.3_Missense_Mutation_p.K312E NM_182751 NP_877428 Q7L590 MCM10_HUMAN Homo sapiens minichromosome maintenance complex component 10 (MCM10), transcript variant 1, mRNA. 313 DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|cell cycle checkpoint nucleoplasm metal ion binding|protein binding central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1) 9 GTTCCAGGGAAAAACCTTCAG 0.363000 7 17 0 0 0.004990 0 0 CFH 3075 broad.mit.edu 37 1 196694339 196694339 + Silent SNP C T T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr1:196694339C>T uc001gtj.4 + 11 2025 c.1785C>T c.(1783-1785)ttC>ttT p.F595F CFH_uc021pgt.1_Intron NM_000186 NP_000177 P08603 CFAH_HUMAN Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 595 Sushi 10. complement activation, alternative pathway extracellular space NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 TGTTGAAATTCTCCTGCAAAC 0.393000 9 30 0 0 0.008361 0 0 ARPC1B 10095 broad.mit.edu 37 7 98985735 98985735 + Silent SNP G A A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr7:98985735G>A uc003upz.3 + 3 363 c.243G>A c.(241-243)ctG>ctA p.L81L ARPC1A_uc011kit.2_Non-coding_Transcript NM_005720 NP_005711 O15143 ARC1B_HUMAN Homo sapiens actin related protein 2/3 complex, subunit 1B, 41kDa (ARPC1B), mRNA. 81 cellular component movement|regulation of actin filament polymerization Arp2/3 protein complex|cytoplasm actin binding|structural constituent of cytoskeleton central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(2)|lung(1) 11 all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) TGTGGACGCTGAAGGGCCGCA 0.647000 98 19 0 0 0.010504 0 0 SETD5 55209 broad.mit.edu 37 3 9517239 9517239 + Missense_Mutation SNP C A A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr3:9517239C>A uc003brt.3 + 22 4228 c.3793C>A c.(3793-3795)Cat>Aat p.H1265N SETD5_uc003bru.3_Missense_Mutation_p.H1167N|SETD5_uc003brv.3_Missense_Mutation_p.H1154N|SETD5_uc010hck.3_Missense_Mutation_p.H747N|SETD5_uc003brx.3_Missense_Mutation_p.H934N NM_001080517 NP_001073986 Q9C0A6 SETD5_HUMAN Homo sapiens SET domain containing 5 (SETD5), mRNA. 1265 Ser-rich. NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.112) CTTCAGAGGACATCCTACACA 0.507000 63 8 0.00307968 0.00315048 0.003080 1 0 WDR49 151790 broad.mit.edu 37 3 167249024 167249024 + Silent SNP G A A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr3:167249024G>A uc003fev.1 - 8 1345 c.1041C>T c.(1039-1041)ccC>ccT p.P347P WDR49_uc003feu.1_Silent_p.P172P|WDR49_uc011bpd.1_Silent_p.P411P|WDR49_uc003few.1_Intron NM_178824 NP_849146 Q8IV35 WDR49_HUMAN Homo sapiens WD repeat domain 49 (WDR49), mRNA. 347 breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 TGGGGTGGGAGGGTTGGCTTC 0.428000 66 18 0 0 0.007413 0 0 RYR1 6261 broad.mit.edu 37 19 38973691 38973691 + Missense_Mutation SNP C T T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr19:38973691C>T uc002oit.3 + 31 4775 c.4645C>T c.(4645-4647)Cct>Tct p.P1549S RYR1_uc002oiu.3_Missense_Mutation_p.P1549S NM_000540 NP_000531 P21817 RYR1_HUMAN Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA. 1549 6 X approximate repeats.|B30.2/SPRY 3. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) TAAGCTATTTCCTGCCGTCTT 0.582000 18 49 0 0 0.003610 0 0 VPS26A 9559 broad.mit.edu 37 10 70928257 70928257 + Missense_Mutation SNP C T T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr10:70928257C>T uc001jpb.3 + 7 866 c.740C>T c.(739-741)cCa>cTa p.P247L VPS26A_uc001jpc.3_Intron|VPS26A_uc009xqa.3_Missense_Mutation_p.P240L|VPS26A_uc001jpd.3_Missense_Mutation_p.P136L NM_004896 NP_004887 O75436 VP26A_HUMAN Homo sapiens vacuolar protein sorting 26 homolog A (S. pombe) (VPS26A), transcript variant 1, mRNA. 247 retrograde transport, endosome to Golgi|vacuolar transport cytosol|endosome membrane|retromer complex|vesicle protein binding|protein transporter activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2) 8 GAATCAATTCCAATAAGGCTA 0.318000 22 20 0 0 0.010504 0 0 PLXNA4 91584 broad.mit.edu 37 7 131866146 131866146 + Silent SNP G A A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr7:131866146G>A uc003vra.4 - 17 3715 c.3486C>T c.(3484-3486)atC>atT p.I1162I NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA. 1162 IPT/TIG 4. integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 CCACCTTTAGGATGATGGGCG 0.562000 62 166 0 0 0.003610 0 0 RLF 6018 broad.mit.edu 37 1 40702018 40702018 + Silent SNP G A A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr1:40702018G>A uc001cfc.4 + 7 1675 c.1644G>A c.(1642-1644)caG>caA p.Q548Q RLF_uc001cfd.4_Silent_p.Q239Q NM_012421 NP_036553 Q13129 RLF_HUMAN Homo sapiens rearranged L-myc fusion (RLF), mRNA. 548 DNA integration|DNA mediated transformation|chromosome organization|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2) 68 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461) AAAGATATCAGAGGTGGCTTC 0.348000 43 33 0 0 0.003271 0 0 AL117485 0 broad.mit.edu 37 22 18846157 18846157 + RNA SNP C T T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr22:18846157C>T uc002zoe.3 + 4 c.2519C>T AL117485_uc002zof.3_5'Flank Homo sapiens cDNA FLJ76361 complete cds. CTCTCTCCTGCGGGAGGAGGG 0.622000 50 4 0 0 0.009096 0 0 HPCAL1 3241 broad.mit.edu 37 2 10559988 10559988 + Silent SNP C T T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr2:10559988C>T uc002raj.3 + 2 479 c.105C>T c.(103-105)ctC>ctT p.L35L HPCAL1_uc002ral.3_Silent_p.L35L|HPCAL1_uc010exe.3_Non-coding_Transcript|HPCAL1_uc010exf.3_Silent_p.L35L NM_002149 NP_602293 P37235 HPCL1_HUMAN Homo sapiens hippocalcin-like 1 (HPCAL1), transcript variant 1, mRNA. 35 EF-hand 1. calcium ion binding endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 9 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.214) AGGGCTTCCTCAAGGACTGCC 0.612000 30 12 0 0 0.001368 0 0 MGA 23269 broad.mit.edu 37 15 42028814 42028814 + Missense_Mutation SNP C T T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr15:42028814C>T uc010ucy.2 + 12 4533 c.4352C>T c.(4351-4353)cCt>cTt p.P1451L MGA_uc010ucz.2_Missense_Mutation_p.P1451L|MGA_uc010uda.1_Intron NM_001164273 NP_001157745 Q8IWI9 MGAP_HUMAN Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA. 1451 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) AAAGGTCTGCCTTTTTATGCA 0.473000 24 14 0 0 0.001855 0 0 MED1 5469 broad.mit.edu 37 17 37563941 37563941 + Silent SNP A G G TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr17:37563941A>G uc002hrv.4 - 16 4745 c.4533T>C c.(4531-4533)gaT>gaC p.D1511D MED1_uc010wee.2_Silent_p.D1339D|MED1_uc002hru.2_Intron NM_004774 NP_004765 Q15648 MED1_HUMAN Homo sapiens mediator complex subunit 1 (MED1), mRNA. 1511 Lys-rich. androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter mediator complex DNA binding|RNA polymerase II transcription cofactor activity|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|thyroid hormone receptor binding|vitamin D receptor binding NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1) 59 Ovarian(249;1.78e-06)|Lung SC(565;0.0262) Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146) UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649) ctcggtccctatctttgtctt 0.443000 HNSCC(31;0.082) 33 15 0 0 0.002450 0 0 SLC36A2 153201 broad.mit.edu 37 5 150696437 150696437 + Missense_Mutation SNP C T T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr5:150696437C>T uc003lty.3 - 9 1523 c.1393G>A c.(1393-1395)Gag>Aag p.E465K SLC36A2_uc003ltz.3_Non-coding_Transcript|SLC36A2_uc003lua.3_Missense_Mutation_p.E267K NM_181776 NP_861441 Q495M3 S36A2_HUMAN Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 2 (SLC36A2), mRNA. 465 cellular nitrogen compound metabolic process cytoplasm|integral to membrane|plasma membrane glycine transmembrane transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 33 Medulloblastoma(196;0.109)|all_hematologic(541;0.243) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TTGAGCAGCTCGTCCAGGGCC 0.572000 6 38 0 0 0.004289 0 0 AFP 174 broad.mit.edu 37 4 74313228 74313228 + Missense_Mutation SNP A T T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr4:74313228A>T uc003hgz.1 + 7 940 c.893A>T c.(892-894)aAa>aTa p.K298I AFP_uc011cbg.1_Missense_Mutation_p.K72I NM_001134 NP_001125 P02771 FETA_HUMAN Homo sapiens alpha-fetoprotein (AFP), mRNA. 298 Albumin 2. transport metal ion binding breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1) 22 Breast(15;0.00102) Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) CTGTCAAACAAAATAACAGAA 0.323000 Alpha-Fetoprotein, Hereditary Persistence of 24 17 0 0 0.007413 0 0 POTEF 728378 broad.mit.edu 37 2 130832617 130832617 + Silent SNP G A A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr2:130832617G>A uc010fmh.2 - 16 2828 c.2428C>T c.(2428-2430)Ctg>Ttg p.L810L NM_001099771 NP_001093241 A5A3E0 POTEF_HUMAN Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA. 810 Actin-like. 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 TTAGGGTTCAGGGTGGCCTCG 0.587000 175 58 0 0 0.003610 0 0 NUP160 23279 broad.mit.edu 37 11 47843330 47843330 + Missense_Mutation SNP G A A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr11:47843330G>A uc001ngm.3 - 8 1308 c.1223C>T c.(1222-1224)gCc>gTc p.A408V NUP160_uc009ylw.3_Non-coding_Transcript|NUP160_uc021qiu.1_Missense_Mutation_p.A408V|Y_RNA_uc021qiv.1_5'Flank NM_015231 NP_056046 Q12769 NU160_HUMAN Homo sapiens nucleoporin 160kDa (NUP160), mRNA. 408 carbohydrate metabolic process|glucose transport|mRNA export from nucleus|mitotic prometaphase|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction Nup107-160 complex|cytosol nucleocytoplasmic transporter activity|protein binding NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2) 53 ATGCCACAGGGCCCAGATATC 0.413000 68 13 0 0 0.003163 0 0 CD80 941 broad.mit.edu 37 3 119256110 119256110 + Missense_Mutation SNP C A A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr3:119256110C>A uc003ecq.3 - 3 969 c.574G>T c.(574-576)Gat>Tat p.D192Y CD80_uc010hqt.1_Missense_Mutation_p.D192Y|CD80_uc010hqu.1_Intron NM_005191 NP_005182 P33681 CD80_HUMAN Homo sapiens CD80 molecule (CD80), mRNA. 192 Ig-like C2-type. T cell costimulation|interspecies interaction between organisms|intracellular signal transduction|positive regulation of T-helper 1 cell differentiation|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of signal transduction|positive regulation of transcription, DNA-dependent intracellular coreceptor activity|protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2) 12 Abatacept(DB01281) GTTTCAGGATCTTGGGAAACT 0.418000 45 76 3.82405e-32 4.05167e-32 0.003610 1 0 TAS2R41 259287 broad.mit.edu 37 7 143175707 143175707 + Silent SNP C T T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr7:143175707C>T uc003wdc.1 + 0 742 c.742C>T c.(742-744)Ctg>Ttg p.L248L LOC285965_uc003wda.3_Intron NM_176883 NP_795364 P59536 T2R41_HUMAN Homo sapiens taste receptor, type 2, member 41 (TAS2R41), mRNA. 248 sensory perception of taste integral to membrane G-protein coupled receptor activity endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1) 18 Melanoma(164;0.15) TCTGTCCTTTCTGTCCCTGAT 0.512000 116 17 0 0 0.008871 0 0 C17orf98 388381 broad.mit.edu 37 17 36991564 36991564 + Missense_Mutation SNP A G G TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr17:36991564A>G uc002hqv.2 - 2 343 c.343T>C c.(343-345)Tac>Cac p.Y115H TRNA_Cys_uc021twl.1_5'Flank NM_001080465 NP_001073934 A8MV24 CQ098_HUMAN Homo sapiens chromosome 17 open reading frame 98 (C17orf98), mRNA. 115 endometrium(5)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(3) 14 TCAGCATTGTAGTGGTCATGC 0.577000 52 36 0 0 0.004289 0 0 RNF207 388591 broad.mit.edu 37 1 6279316 6279316 + Missense_Mutation SNP C T T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr1:6279316C>T uc001amg.3 + 17 1928 c.1754C>T c.(1753-1755)cCg>cTg p.P585L NM_207396 NP_997279 Q6ZRF8 RN207_HUMAN Homo sapiens ring finger protein 207 (RNF207), mRNA. 585 intracellular zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(2) 16 Ovarian(185;0.0634) all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211) Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182) GGAAGTGTCCCGGAAAAGAGA 0.502000 48 20 0 0 0.001882 0 0 VPS4A 27183 broad.mit.edu 37 16 69354183 69354183 + Nonsense_Mutation SNP C T T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr16:69354183C>T uc002eww.3 + 6 888 c.760C>T c.(760-762)Cag>Tag p.Q254* NM_013245 NP_037377 Q9UN37 VPS4A_HUMAN Homo sapiens vacuolar protein sorting 4 homolog A (S. cerevisiae) (VPS4A), mRNA. 254 cell cycle|cellular membrane organization|cytokinesis|endosome transport|protein transport cytosol|late endosome membrane|midbody|perinuclear region of cytoplasm ATP binding|ATPase activity, coupled|protein C-terminus binding|protein domain specific binding NS(1)|central_nervous_system(1)|large_intestine(2)|lung(3) 7 Ovarian(137;0.101) GTTCTTGGTCCAGATGCAGGG 0.572000 51 20 0 0 0.001882 0 0 ZMAT1 84460 broad.mit.edu 37 X 101139487 101139487 + Silent SNP G A A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chrX:101139487G>A uc011mrl.2 - 6 1262 c.912C>T c.(910-912)ttC>ttT p.F304F ZMAT1_uc004eim.3_Silent_p.F133F|ZMAT1_uc004ein.3_Silent_p.F133F|ZMAT1_uc011mrm.2_Silent_p.F133F NM_001011657 NP_001011657 A7MD47 A7MD47_HUMAN Homo sapiens zinc finger, matrin-type 1 (ZMAT1), transcript variant 1, mRNA. 133 nucleus zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 22 GTTCATCTTGGAAAGAGTCAT 0.398000 41 56 0 0 0.003610 0 0 KRT31 3881 broad.mit.edu 37 17 39551240 39551241 + Missense_Mutation DNP GG AA AA TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr17:39551240_39551241GG>AA uc002hwn.3 - 5 1009_1010 c.956_957CC>TT c.(955-957)acc>aTT p.T319I KRT31_uc010cxn.3_Missense_Mutation_p.T319I NM_002277 NP_002268 Q15323 K1H1_HUMAN Homo sapiens keratin 31 (KRT31), mRNA. 319 Coil 2.|Rod. epidermis development intermediate filament protein binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 31 Breast(137;0.000496) ACTCCACGTTGGTGATCAGGCT 0.614000 37 24 0 0 0.004672 0 0 ANO4 121601 broad.mit.edu 37 12 101480466 101480466 + Missense_Mutation SNP G A A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr12:101480466G>A uc010svm.1 + 16 2137 c.1565G>A c.(1564-1566)gGg>gAg p.G522E ANO4_uc001thw.2_Missense_Mutation_p.G487E|ANO4_uc001thx.2_Missense_Mutation_p.G522E|ANO4_uc001thy.2_Missense_Mutation_p.G42E NM_178826 NP_849148 Q32M45 ANO4_HUMAN Homo sapiens anoctamin 4 (ANO4), mRNA. 522 chloride channel complex chloride channel activity NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 GCCGTGTTCGGGATCGTCATT 0.517000 HNSCC(74;0.22) 172 83 0 0 0.003610 0 0 KLHDC7A 127707 broad.mit.edu 37 1 18809378 18809378 + Missense_Mutation SNP G A A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr1:18809378G>A uc001bax.3 + 0 1955 c.1903G>A c.(1903-1905)Gaa>Aaa p.E635K KLHDC7A_uc009vpg.3_Missense_Mutation_p.E417K NM_152375 NP_689588 Q5VTJ3 KLD7A_HUMAN Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA. 635 integral to membrane endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 22 Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) GCGTGCCAAGGAAATCTTCGT 0.711000 17 10 0 0 0.008291 0 0 SEMA3D 223117 broad.mit.edu 37 7 84647598 84647598 + Silent SNP G A A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr7:84647598G>A uc003uic.3 - 12 1555 c.1515C>T c.(1513-1515)atC>atT p.I505I SEMA3D_uc010led.3_Silent_p.I505I|SEMA3D_uc003uib.3_Silent_p.I144I NM_152754 NP_689967 O95025 SEM3D_HUMAN Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D (SEMA3D), mRNA. 505 Sema. cell differentiation|nervous system development extracellular region|membrane receptor activity NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2) 73 TGTTCAAGATGATTGATGAGT 0.284000 42 6 0 0 0.004482 0 0 CALCOCO1 57658 broad.mit.edu 37 12 54117527 54117527 + Silent SNP G A A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr12:54117527G>A uc001sef.3 - 3 444 c.300C>T c.(298-300)ttC>ttT p.F100F CALCOCO1_uc010som.2_Intron|CALCOCO1_uc010son.2_5'UTR|CALCOCO1_uc009znd.3_Silent_p.F100F|CALCOCO1_uc001seg.3_Intron|CALCOCO1_uc001seh.2_Silent_p.F100F|CALCOCO1_uc010soo.1_Silent_p.F93F NM_020898 NP_065949 Q9P1Z2 CACO1_HUMAN Homo sapiens calcium binding and coiled-coil domain 1 (CALCOCO1), transcript variant 1, mRNA. 100 N-terminal AD (CTNNB1 binding site) (By similarity). Wnt receptor signaling pathway|steroid hormone receptor signaling pathway|transcription, DNA-dependent cytoplasm armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 28 TCACATATCGGAACTGGTAGA 0.607000 21 17 0 0 0.007413 0 0 DMD 1756 broad.mit.edu 37 X 31514964 31514964 + Missense_Mutation SNP G A A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chrX:31514964G>A uc004dda.1 - 56 8732 c.8488C>T c.(8488-8490)Cgg>Tgg p.R2830W DMD_uc004dcq.1_Missense_Mutation_p.R101W|DMD_uc004dcr.1_Missense_Mutation_p.R370W|DMD_uc004dcs.1_Missense_Mutation_p.R370W|DMD_uc004dct.1_Missense_Mutation_p.R370W|DMD_uc004dcu.1_Missense_Mutation_p.R370W|DMD_uc004dcv.1_Missense_Mutation_p.R370W|DMD_uc004dcw.2_Missense_Mutation_p.R1486W|DMD_uc004dcx.2_Missense_Mutation_p.R1489W|DMD_uc004dcz.2_Missense_Mutation_p.R2707W|DMD_uc004dcy.1_Missense_Mutation_p.R2826W|DMD_uc004ddb.1_Missense_Mutation_p.R2822W NM_004006 NP_004001 P11532 DMD_HUMAN Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA. 2830 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding p.R2825W(1)|p.R2826W(1)|p.R370W(1) NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) GGTGCCTGCCGGCTTAATTCA 0.498000 15 19 0 0 0.001882 0 0 FRG1B 284802 broad.mit.edu 37 20 29628261 29628261 + Missense_Mutation SNP T C C rs111331725 by1000genomes TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr20:29628261T>C uc010ztl.1 + 2 205 c.173T>C c.(172-174)tTt>tCt p.F58S FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Missense_Mutation_p.F10S Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA. endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AATAGCTGCTTTATTAGATGC 0.363000 61 5 0 0 0.001984 0 0 XRN2 22803 broad.mit.edu 37 20 21335488 21335488 + Silent SNP C T T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr20:21335488C>T uc002wsf.1 + 20 2093 c.1998C>T c.(1996-1998)taC>taT p.Y666Y XRN2_uc002wsg.1_Silent_p.Y590Y|XRN2_uc010zsk.1_Silent_p.Y612Y NM_012255 NP_036387 Q9H0D6 XRN2_HUMAN Homo sapiens 5'-3' exoribonuclease 2 (XRN2), mRNA. 666 DNA catabolic process, exonucleolytic|RNA catabolic process|cell growth|mRNA processing|regulation of transcription, DNA-dependent|spermatogenesis|transcription termination, DNA-dependent nucleolus 5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5) 39 AAGAGGTATACCCAGACCTCA 0.408000 30 11 0 0 0.000978 0 0 ACAP1 9744 broad.mit.edu 37 17 7245641 7245642 + Missense_Mutation DNP CC TT TT TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr17:7245641_7245642CC>TT uc002ggd.2 + 3 485_486 c.279_280CC>TT c.(277-282)agccat>agTTat p.H94Y NM_014716 NP_055531 Q15027 ACAP1_HUMAN Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 (ACAP1), mRNA. 94 BAR.|Required for formation of endosomal tubules when overexpressed with PIP5K1C. intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1) 33 AGCTGGACAGCCATGCGGTAAG 0.564000 41 21 0 0 0.004672 0 0 NCKAP5 344148 broad.mit.edu 37 2 133540362 133540362 + Missense_Mutation SNP G A A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr2:133540362G>A uc002ttp.3 - 13 4396 c.4022C>T c.(4021-4023)cCc>cTc p.P1341L NCKAP5_uc002ttq.3_Intron NM_207363 NP_997246 O14513 NCKP5_HUMAN Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA. 1341 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 GTGCCCCGAGGGCCTCCCAAC 0.607000 22 8 0 0 0.003080 0 0 GRM1 2911 broad.mit.edu 37 6 146720028 146720028 + Missense_Mutation SNP G T T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr6:146720028G>T uc010khw.1 + 7 2323 c.1853G>T c.(1852-1854)cGg>cTg p.R618L GRM1_uc010khv.1_Missense_Mutation_p.R618L|GRM1_uc003qll.2_Missense_Mutation_p.R618L|GRM1_uc011edz.1_Missense_Mutation_p.R618L|GRM1_uc011eea.1_Missense_Mutation_p.R618L NM_000838 NP_000829 Q13255 GRM1_HUMAN Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA. 618 synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity p.R618L(3) NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) GTACTGTACCGGGACACACCA 0.473000 111 44 1.57019e-19 1.64409e-19 0.007835 1 0 HEXDC 284004 broad.mit.edu 37 17 80377712 80377712 + Missense_Mutation SNP C T T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr17:80377712C>T uc002kev.4 + 1 453 c.37C>T c.(37-39)Cat>Tat p.H13Y C17orf101_uc002ket.2_5'Flank|C17orf101_uc010dip.2_5'Flank|C17orf101_uc002keu.2_5'Flank|HEXDC_uc002kew.3_Missense_Mutation_p.H13Y NM_173620 NP_775891 Q8WVB3 HEXDC_HUMAN Homo sapiens hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing (HEXDC), mRNA. 13 carbohydrate metabolic process cytoplasm|nucleus beta-N-acetylhexosaminidase activity|cation binding breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1) 16 Breast(20;0.00106)|all_neural(118;0.0804) OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369) GAGATTAGTTCATTTAGACCT 0.433000 12 15 0 0 0.006122 0 0 C17orf78 284099 broad.mit.edu 37 17 35743032 35743032 + Silent SNP G A A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr17:35743032G>A uc002hns.3 + 3 527 c.477G>A c.(475-477)ggG>ggA p.G159G ACACA_uc002hnn.3_Intron|ACACA_uc002hno.3_Intron|ACACA_uc002hnq.2_Intron|C17orf78_uc010cva.1_Intron NM_173625 NP_775896 Q8N4C9 CQ078_HUMAN Homo sapiens chromosome 17 open reading frame 78 (C17orf78), mRNA. 159 integral to membrane NS(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(1) 6 Breast(25;0.00295)|Ovarian(249;0.15) TAACTCCTGGGAATAAAGAAG 0.383000 13 5 0 0 0.000602 0 0 FADS6 283985 broad.mit.edu 37 17 72888728 72888728 + Silent SNP C T T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr17:72888728C>T uc002jmd.1 - 1 291 c.279G>A c.(277-279)aaG>aaA p.K93K NM_178128 NP_835229 Q8N9I5 FADS6_HUMAN Homo sapiens fatty acid desaturase domain family, member 6 (FADS6), mRNA. 99 fatty acid biosynthetic process integral to membrane oxidoreductase activity endometrium(3)|kidney(1)|lung(4) 8 all_lung(278;0.172)|Lung NSC(278;0.207) GGTGGCTGCCCTTGACAGTGA 0.592000 10 4 0 0 0.009096 0 0 TTN 7273 broad.mit.edu 37 2 179392293 179392293 + Nonsense_Mutation SNP G A A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr2:179392293G>A uc021vsy.1 - 310 100081 c.99856C>T c.(99856-99858)Caa>Taa p.Q33286* MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Nonsense_Mutation_p.Q26981*|TTN_uc021vta.1_Nonsense_Mutation_p.Q26914*|TTN_uc021vtb.1_Nonsense_Mutation_p.Q26789*|TTN_uc002umq.3_Intron NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 34213 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) GACATGCTTTGGGCAGACATG 0.453000 79 14 0 0 0.002450 0 0 RP1 6101 broad.mit.edu 37 8 55540286 55540286 + Missense_Mutation SNP C T T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr8:55540286C>T uc003xsd.1 + 3 3992 c.3844C>T c.(3844-3846)Cct>Tct p.P1282S RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA. 1282 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) CACTTTTTTTCCTAGTGATGG 0.408000 67 82 0 0 0.003610 0 0 GRHL2 79977 broad.mit.edu 37 8 102570691 102570691 + Missense_Mutation SNP G A A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr8:102570691G>A uc010mbu.3 + 3 659 c.329G>A c.(328-330)gGa>gAa p.G110E GRHL2_uc011lhi.1_Missense_Mutation_p.G110E NM_024915 NP_079191 Q6ISB3 GRHL2_HUMAN Homo sapiens grainyhead-like 2 (Drosophila) (GRHL2), mRNA. 110 cytoplasm|nucleus DNA binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05) Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213) TTGAGTGGAGGAGAAAACCGA 0.463000 64 48 0 0 0.003610 0 0 SLC38A1 81539 broad.mit.edu 37 12 46623403 46623403 + Missense_Mutation SNP C T T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr12:46623403C>T uc009zkj.1 - 3 827 c.142G>A c.(142-144)Gaa>Aaa p.E48K SLC38A1_uc001rpb.3_Missense_Mutation_p.E48K|SLC38A1_uc001rpc.3_Missense_Mutation_p.E48K|SLC38A1_uc001rpd.3_Missense_Mutation_p.E48K|SLC38A1_uc001rpe.3_Missense_Mutation_p.E48K|SLC38A1_uc010slh.2_Missense_Mutation_p.E21K|SLC38A1_uc001rpa.3_Missense_Mutation_p.E48K NM_030674 NP_109599 Q9H2H9 S38A1_HUMAN Homo sapiens solute carrier family 38, member 1 (SLC38A1), transcript variant 1, mRNA. 48 cellular nitrogen compound metabolic process|neurotransmitter uptake integral to membrane|plasma membrane sodium:amino acid symporter activity NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2) 23 Lung SC(27;0.137)|Renal(347;0.236) all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344) CTTCTACTTTCACGATCAGAA 0.279000 63 52 0 0 0.003610 0 0 RHBDF2 79651 broad.mit.edu 37 17 74473796 74473796 + Silent SNP G A A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr17:74473796G>A uc002jrq.2 - 6 1125 c.831C>T c.(829-831)ttC>ttT p.F277F RHBDF2_uc021udh.1_Silent_p.F248F|RHBDF2_uc002jrr.1_Silent_p.F129F|RHBDF2_uc010wtf.1_Silent_p.F248F|RHBDF2_uc002jrs.1_Silent_p.F272F NM_024599 NP_078875 Q6PJF5 RHDF2_HUMAN Homo sapiens rhomboid 5 homolog 2 (Drosophila) (RHBDF2), transcript variant 1, mRNA. 277 negative regulation of protein secretion|protein transport|proteolysis endoplasmic reticulum membrane|integral to membrane growth factor binding|serine-type endopeptidase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1) 27 CCTCCTCCAGGAAGCTCGGGA 0.632000 42 32 0 0 0.002096 0 0 abParts 0 broad.mit.edu 37 22 22697959 22697959 + RNA SNP C T T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr22:22697959C>T uc021wml.1 + 40 c.4504C>T Parts of antibodies, mostly variable regions. GGATGGCATCCCTGATCGCTT 0.557000 OREG0026357 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 32 6 0 0 0.003080 0 0 MTHFD1 4522 broad.mit.edu 37 14 64892780 64892780 + Missense_Mutation SNP A G G TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr14:64892780A>G uc001xhb.3 + 10 1384 c.997A>G c.(997-999)Aag>Gag p.K333E MTHFD1_uc010aqe.2_Missense_Mutation_p.K369E|MTHFD1_uc010aqf.3_Missense_Mutation_p.K389E NM_005956 NP_005947 P11586 C1TC_HUMAN Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase (MTHFD1), mRNA. 333 Formyltetrahydrofolate synthetase. folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process cytosol|mitochondrion ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2) 30 OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488) NADH(DB00157)|Tetrahydrofolic acid(DB00116) GCCCATTGGTAAGCTGGCTCG 0.403000 35 24 0 0 0.003330 0 0 TCF23 150921 broad.mit.edu 37 2 27375716 27375716 + Missense_Mutation SNP C T T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr2:27375716C>T uc010ylg.2 + 2 683 c.626C>T c.(625-627)cCa>cTa p.P209L NM_175769 NP_786951 Q7RTU1 TCF23_HUMAN Homo sapiens transcription factor 23 (TCF23), mRNA. 209 cell differentiation|muscle organ development|regulation of transcription, DNA-dependent nucleus p.P209T(1) large_intestine(2)|lung(11)|prostate(1) 14 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCACTCTCACCAGCTCTTGGT 0.537000 91 77 0 0 0.003610 0 0 CEP250 11190 broad.mit.edu 37 20 34091962 34091962 + Missense_Mutation SNP G A A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr20:34091962G>A uc021wco.1 + 29 6412 c.5765G>A c.(5764-5766)aGg>aAg p.R1922K CEP250_uc010zve.2_Missense_Mutation_p.R1290K NM_007186 NP_009117 Q9BV73 CP250_HUMAN Homo sapiens centrosomal protein 250kDa (CEP250), mRNA. 1922 Gln/Glu-rich. G2/M transition of mitotic cell cycle|centriole-centriole cohesion|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) GTGGAGACCAGGGCCCTGCAG 0.632000 27 10 0 0 0.000978 0 0 PCF11 51585 broad.mit.edu 37 11 82877448 82877448 + Silent SNP C T T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr11:82877448C>T uc001ozx.4 + 4 1854 c.1509C>T c.(1507-1509)ccC>ccT p.P503P PCF11_uc010rsu.1_Silent_p.P503P NM_015885 NP_056969 O94913 PCF11_HUMAN Homo sapiens PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae) (PCF11), mRNA. 503 mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage factor complex cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1) 33 GGCGGTCACCCAAACGAAGGC 0.458000 64 4 0 0 0.000602 0 0 TTC9 23508 broad.mit.edu 37 14 71134317 71134317 + Missense_Mutation SNP G A A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr14:71134317G>A uc001xmi.2 + 1 786 c.443G>A c.(442-444)cGa>cAa p.R148Q NM_015351 NP_056166 Q92623 TTC9A_HUMAN Homo sapiens tetratricopeptide repeat domain 9 (TTC9), mRNA. 148 binding skin(1) 1 all cancers(60;0.00545)|BRCA - Breast invasive adenocarcinoma(234;0.00747)|OV - Ovarian serous cystadenocarcinoma(108;0.0538) AACTATGAACGAGTCAAGGAA 0.522000 70 13 0 0 0.001855 0 0 PSRC1 84722 broad.mit.edu 37 1 109824519 109824520 + Missense_Mutation DNP CC TT TT TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr1:109824519_109824520CC>TT uc001dxj.3 - 3 386_387 c.240_241GG>AA c.(238-243)gaggcc>gaAAcc p.A81T PSRC1_uc001dxb.3_5'UTR|PSRC1_uc001dxc.3_Missense_Mutation_p.A81T|PSRC1_uc001dxd.3_Missense_Mutation_p.A81T|PSRC1_uc001dxf.3_Missense_Mutation_p.A81T NM_032636 NP_116025 Q6PGN9 PSRC1_HUMAN Homo sapiens proline/serine-rich coiled-coil 1 (PSRC1), transcript variant 1, mRNA. 81 cell division|microtubule bundle formation|mitotic metaphase plate congression|negative regulation of cell growth|positive regulation of microtubule polymerization|positive regulation of transcription, DNA-dependent|regulation of mitotic spindle organization cytosol|midbody|spindle pole microtubule binding endometrium(1)|large_intestine(1)|lung(2)|prostate(2)|skin(1) 7 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0286)|Lung(183;0.0658)|COAD - Colon adenocarcinoma(174;0.112)|Epithelial(280;0.188)|all cancers(265;0.213) AGCCGGTTGGCCTCATCGAGGA 0.683000 260 56 0 0 0.004672 0 0 ADAM18 8749 broad.mit.edu 37 8 39494794 39494794 + Missense_Mutation SNP G A A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr8:39494794G>A uc003xni.3 + 7 655 c.600G>A c.(598-600)atG>atA p.M200I ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Intron NM_014237 NP_055052 Q9Y3Q7 ADA18_HUMAN Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA. 200 Peptidase M12B. cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3) 71 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) ATGATTATATGGGATCTGAAA 0.274000 24 15 0 0 0.003163 0 0 LZTFL1 54585 broad.mit.edu 37 3 45872564 45872564 + Splice_Site SNP C G G TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr3:45872564C>G uc003cox.1 - 6 660 c.522_splice c.e6+1 p.Q174_splice LZTFL1_uc003coy.1_Splice_Site_p.Q157_splice|LZTFL1_uc011bak.1_Splice_Site NM_020347 NP_065080 Q9NQ48 LZTL1_HUMAN Homo sapiens leucine zipper transcription factor-like 1 (LZTFL1), mRNA. 174 endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 8 BRCA - Breast invasive adenocarcinoma(193;0.00867)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208) TTCTCAGTTACCTGTATTTCA 0.299000 19 12 0 0 0.001855 0 0 SCN8A 6334 broad.mit.edu 37 12 52159697 52159697 + Silent SNP C G G TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr12:52159697C>G uc001ryw.3 + 15 2965 c.2787C>G c.(2785-2787)gtC>gtG p.V929V SCN8A_uc010snl.2_Silent_p.V929V|SCN8A_uc001ryy.2_Silent_p.V794V NM_014191 NP_055006 Q9UQD0 SCN8A_HUMAN Homo sapiens sodium channel, voltage gated, type VIII, alpha subunit (SCN8A), transcript variant 1, mRNA. 929 axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) TCCTCATTGTCTTTCGAGTGT 0.488000 188 99 0 0 0.003610 0 0 DSCAM 1826 broad.mit.edu 37 21 42080415 42080415 + Missense_Mutation SNP C T T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr21:42080415C>T uc002yyq.1 - 1 778 c.326G>A c.(325-327)gGg>gAg p.G109E DSCAM_uc002yyr.1_Non-coding_Transcript NM_001389 NP_001380 O60469 DSCAM_HUMAN Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA. 109 Ig-like C2-type 1. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) TCTAATTTTCCCTGAAGGATT 0.448000 62 18 0 0 0.008871 0 0 MUC17 140453 broad.mit.edu 37 7 100686896 100686896 + Missense_Mutation SNP C T T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr7:100686896C>T uc003uxp.1 + 2 12252 c.12199C>T c.(12199-12201)Cct>Tct p.P4067S MUC17_uc010lho.1_Non-coding_Transcript NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN Homo sapiens mucin 17, cell surface associated (MUC17), mRNA. 4067 extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) ACCTACATTTCCTCCTGCTCA 0.547000 47 114 0 0 0.003610 0 0 ADAM21P1 145241 broad.mit.edu 37 14 70713650 70713650 + Missense_Mutation SNP T G G TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr14:70713650T>G uc010ttg.2 - 0 869 c.218A>C c.(217-219)gAt>gCt p.D73A Homo sapiens ADAM metallopeptidase domain 21 pseudogene 1 (ADAM21P1), non-coding RNA. ATACATGGAATCCACTATGTT 0.368000 44 24 0 0 0.003954 0 0 CDH16 1014 broad.mit.edu 37 16 66949202 66949202 + Silent SNP C T T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr16:66949202C>T uc002eql.3 - 5 698 c.504G>A c.(502-504)ctG>ctA p.L168L CDH16_uc010cdy.3_Silent_p.L168L|CDH16_uc021tjx.1_Silent_p.L168L|CDH16_uc002eqm.3_Intron NM_004062 NP_004053 O75309 CAD16_HUMAN Homo sapiens cadherin 16, KSP-cadherin (CDH16), transcript variant 1, mRNA. 168 Cadherin 2. 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) GAGCCTGGCTCAGGATGTGGA 0.647000 48 15 0 0 0.003163 0 0 MTUS1 57509 broad.mit.edu 37 8 17611259 17611259 + Missense_Mutation SNP C A A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr8:17611259C>A uc003wxv.3 - 1 2532 c.2058G>T c.(2056-2058)atG>atT p.M686I MTUS1_uc010lsy.3_Non-coding_Transcript|MTUS1_uc003wxw.3_Missense_Mutation_p.M686I|MTUS1_uc010lsz.3_Missense_Mutation_p.M686I NM_001001924 NP_001001924 Q9ULD2 MTUS1_HUMAN Homo sapiens microtubule associated tumor suppressor 1 (MTUS1), transcript variant 1, mRNA. 686 Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1) 36 Colorectal(111;0.0778) AAGTCTCATTCATAATCTCTT 0.343000 26 10 1.76689e-08 1.82853e-08 0.006214 1 0 PTPRB 5787 broad.mit.edu 37 12 70949899 70949900 + Missense_Mutation DNP GG AA AA TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr12:70949899_70949900GG>AA uc001swb.4 - 16 4119_4120 c.4089_4090CC>TT c.(4087-4092)tgccgg>tgTTgg p.R1364W PTPRB_uc010sto.2_Missense_Mutation_p.R1274W|PTPRB_uc010stp.2_Missense_Mutation_p.R1274W|PTPRB_uc001swc.4_Missense_Mutation_p.R1582W|PTPRB_uc001swa.4_Missense_Mutation_p.R1494W NM_002837 NP_002828 P23467 PTPRB_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA. 1364 Fibronectin type-III 16. 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) TTCTGAGGCCGGCAATGCAGGT 0.455000 20 17 0 0 0.004672 0 0 KRT35 3886 broad.mit.edu 37 17 39635641 39635641 + Silent SNP G A A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr17:39635641G>A uc002hws.3 - 2 712 c.669C>T c.(667-669)tcC>tcT p.S223S NM_002280 NP_002271 Q92764 KRT35_HUMAN Homo sapiens keratin 35 (KRT35), mRNA. 223 Coil 1B.|Rod. anatomical structure morphogenesis intermediate filament protein binding|structural molecule activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 29 Breast(137;0.000286) CCTCCTTCAGGGACTCCACCT 0.607000 43 26 0 0 0.007291 0 0 PRR11 55771 broad.mit.edu 37 17 57270947 57270947 + Missense_Mutation SNP C T T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr17:57270947C>T uc002ixf.2 + 4 809 c.497C>T c.(496-498)cCt>cTt p.P166L PRR11_uc021uar.1_Non-coding_Transcript NM_018304 NP_060774 Q96HE9 PRR11_HUMAN Homo sapiens proline rich 11 (PRR11), mRNA. 166 breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1) 16 Medulloblastoma(34;0.0922)|all_neural(34;0.101) CTGATCACCCCTGGAGACTCC 0.542000 31 23 0 0 0.002299 0 0 OR1D4 653166 broad.mit.edu 37 17 3144090 3144090 + Missense_Mutation SNP G A A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr17:3144090G>A uc002fvf.3 + 0 121 c.121G>A c.(121-123)Gga>Aga p.G41R Homo sapiens olfactory receptor, family 1, subfamily D, member 4 (gene/pseudogene) (OR1D4), non-coding RNA. CACGGTGCTGGGAAATGTGCT 0.527000 54 23 0 0 0.004289 0 0 PCDH15 65217 broad.mit.edu 37 10 55570395 55570395 + Missense_Mutation SNP C T T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr10:55570395C>T uc021pqw.1 - 34 4828 c.4433G>A c.(4432-4434)cGt>cAt p.R1478H PCDH15_uc010qhq.2_Missense_Mutation_p.R1471H|PCDH15_uc010qhr.2_Missense_Mutation_p.R1466H|PCDH15_uc021pqv.1_Missense_Mutation_p.V1492I|PCDH15_uc010qht.2_Missense_Mutation_p.R1473H|PCDH15_uc021pqx.1_Missense_Mutation_p.V1490I NM_001142769 NP_001136241 Q96QU1 PCD15_HUMAN Homo sapiens protocadherin-related 15 (PCDH15), transcript variant I, mRNA. 0 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) TAACAATCGACGGCGACTCCC 0.393000 HNSCC(58;0.16) 30 43 0 0 0.003610 0 0 MGAM 8972 broad.mit.edu 37 7 141719032 141719032 + Missense_Mutation SNP C T T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr7:141719032C>T uc003vwy.3 + 3 415 c.361C>T c.(361-363)Ccc>Tcc p.P121S NM_004668 NP_004659 O43451 MGA_HUMAN Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA. 121 P-type 1. 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) TTGCTGGAATCCCCAGGGAGC 0.453000 158 22 0 0 0.001882 0 0 OR1D5 8386 broad.mit.edu 37 17 2966538 2966538 + Missense_Mutation SNP G A A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr17:2966538G>A uc021tns.1 - 0 364 c.364C>T c.(364-366)Cgc>Tgc p.R122C NM_014566 NP_055381 P58170 OR1D5_HUMAN Homo sapiens olfactory receptor, family 1, subfamily D, member 5 (OR1D5), mRNA. 122 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R122C(3) kidney(1)|lung(10) 11 GCCACATAGCGATCATACGCC 0.567000 32 19 0 0 0.001882 0 0 COL4A5 1287 broad.mit.edu 37 X 107923941 107923941 + Missense_Mutation SNP G A A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chrX:107923941G>A uc022ccg.1 + 44 4177 c.3975G>A c.(3973-3975)atG>atA p.M1325I COL4A5_uc004enz.1_Missense_Mutation_p.M1319I NM_033380 NP_203699 P29400 CO4A5_HUMAN Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA. 1319 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 TCAATGGAATGAAAGGAGATC 0.443000 Alport syndrome with Diffuse Leiomyomatosis 19 17 0 0 0.007413 0 0 AP3B2 8120 broad.mit.edu 37 15 83346062 83346062 + Silent SNP G A A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr15:83346062G>A uc010uoi.2 - 12 1629 c.1452C>T c.(1450-1452)atC>atT p.I484I AP3B2_uc010uoh.2_Silent_p.I484I|AP3B2_uc010uoj.2_Silent_p.I452I|AP3B2_uc010uog.2_Silent_p.I120I NM_004644 NP_004635 Q13367 AP3B2_HUMAN Homo sapiens adaptor-related protein complex 3, beta 2 subunit (AP3B2), mRNA. 484 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport COPI-coated vesicle|clathrin coated vesicle membrane|membrane coat binding|protein transporter activity p.I484T(1) breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(143;0.229) AGTGTTTGATGATCTCTCCAT 0.453000 21 3 0 0 0.004672 0 0 INADL 10207 broad.mit.edu 37 1 62350026 62350026 + Missense_Mutation SNP C T T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr1:62350026C>T uc001dab.3 + 21 3191 c.3077C>T c.(3076-3078)tCc>tTc p.S1026F INADL_uc009waf.1_Missense_Mutation_p.S1026F|INADL_uc001daa.2_Missense_Mutation_p.S1026F|INADL_uc001dad.3_Missense_Mutation_p.S723F|INADL_uc001dac.3_Non-coding_Transcript NM_176877 NP_795352 Q8NI35 INADL_HUMAN Homo sapiens InaD-like (Drosophila) (INADL), mRNA. 1026 intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3) 103 CGAGTTATTTCCAAGGCCTCA 0.408000 77 62 0 0 0.003610 0 0 PADI6 353238 broad.mit.edu 37 1 17727845 17727845 + Missense_Mutation SNP T G G TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr1:17727845T>G uc001bak.1 + 16 1996 c.1996T>G c.(1996-1998)Tgt>Ggt p.C666G NM_207421 NP_997304 Q6TGC4 PADI6_HUMAN Homo sapiens peptidyl arginine deiminase, type VI (PADI6), mRNA. 658 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2) 29 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) TGACTTTGACTGTTACCTGAC 0.542000 40 12 0 0 0.000978 0 0 ANK1 286 broad.mit.edu 37 8 41577290 41577290 + Missense_Mutation SNP G C C TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr8:41577290G>C uc003xok.3 - 9 1080 c.996C>G c.(994-996)gaC>gaG p.D332E NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.3_Missense_Mutation_p.D332E|ANK1_uc003xoj.3_Missense_Mutation_p.D332E|ANK1_uc003xol.3_Missense_Mutation_p.D332E|ANK1_uc003xom.3_Missense_Mutation_p.D365E NM_020476 NP_065209 P16157 ANK1_HUMAN Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA. 332 89 kDa domain. D -> H (in a breast cancer sample; somatic mutation). axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton p.D332H(1) breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) GGGTGATGTCGTCTATCTCTG 0.587000 119 71 0 0 0.003610 0 0 AK022914 0 broad.mit.edu 37 14 19857036 19857036 + RNA SNP A G G TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr14:19857036A>G uc001vvq.1 - 4 c.494T>C Homo sapiens cDNA FLJ12852 fis, clone NT2RP2003445. CTGGATAATAAAGTTCATCTC 0.373000 83 4 0 0 0.009096 0 0 KCNQ2 3785 broad.mit.edu 37 20 62065237 62065237 + Missense_Mutation SNP G A A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr20:62065237G>A uc002yey.1 - 7 1220 c.1043C>T c.(1042-1044)gCc>gTc p.A348V KCNQ2_uc002yez.1_Missense_Mutation_p.A348V|KCNQ2_uc002yfa.1_Missense_Mutation_p.A348V|KCNQ2_uc002yfb.1_Missense_Mutation_p.A348V|KCNQ2_uc011aax.1_Missense_Mutation_p.A348V|KCNQ2_uc002yfc.1_Missense_Mutation_p.A348V NM_172107 NP_742105 O43526 KCNQ2_HUMAN Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 2 (KCNQ2), transcript variant 1, mRNA. 348 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 all_cancers(38;1.24e-11) BRCA - Breast invasive adenocarcinoma(10;1.04e-05) Amitriptyline(DB00321) GAGGTTGGTGGCGTAGAATCT 0.692000 39 34 0 0 0.003271 0 0 SECTM1 6398 broad.mit.edu 37 17 80282647 80282647 + Missense_Mutation SNP C T T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr17:80282647C>T uc002keo.3 - 2 612 c.214G>A c.(214-216)Ggg>Agg p.G72R NM_003004 NP_002995 Q8WVN6 SCTM1_HUMAN Homo sapiens secreted and transmembrane 1 (SECTM1), mRNA. 72 immune response|mesoderm development|positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi apparatus|extracellular space|integral to membrane|plasma membrane cytokine activity|signal transducer activity endometrium(1)|large_intestine(2)|lung(1) 4 Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249) OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833) CTCTCCTGCCCGTGGGCACGC 0.602000 10 9 0 0 0.006214 0 0 PTK7 5754 broad.mit.edu 37 6 43098071 43098071 + Missense_Mutation SNP C T T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr6:43098071C>T uc011dve.1 + 3 640 c.598C>T c.(598-600)Cct>Tct p.P200S PTK7_uc003oub.1_Missense_Mutation_p.P192S|PTK7_uc003ouc.1_Missense_Mutation_p.P192S|PTK7_uc003oud.1_Missense_Mutation_p.P192S|PTK7_uc003oue.1_Missense_Mutation_p.P192S|PTK7_uc003ouf.1_Non-coding_Transcript|PTK7_uc003oug.1_Intron|PTK7_uc010jyj.1_5'Flank|PTK7_uc003oua.3_Missense_Mutation_p.P192S NM_002821 NP_002812 Q13308 PTK7_HUMAN Homo sapiens PTK7 protein tyrosine kinase 7 (PTK7), transcript variant PTK7-1, mRNA. 192 Ig-like C2-type 2. actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration cell-cell junction|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423) GCCAGCTGGTCCTGAGCATAG 0.592000 16 28 0 0 0.006320 0 0 CHGB 1114 broad.mit.edu 37 20 5897512 5897512 + Missense_Mutation SNP C T T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr20:5897512C>T uc002wmg.3 + 2 443 c.137C>T c.(136-138)tCg>tTg p.S46L CHGB_uc010zqz.2_5'UTR NM_001819 NP_001810 P05060 SCG1_HUMAN Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA. 46 extracellular region hormone activity breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 47 AATGCCTTGTCGAAGTCCAGC 0.557000 39 40 0 0 0.009718 0 0 FSTL5 56884 broad.mit.edu 37 4 162841804 162841804 + Splice_Site SNP C T T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr4:162841804C>T uc003iqh.3 - 4 597 c.161_splice c.e4-1 p.G54_splice FSTL5_uc003iqi.3_Splice_Site_p.G53_splice|FSTL5_uc010iqv.3_Splice_Site_p.G53_splice NM_020116 NP_064501 Q8N475 FSTL5_HUMAN Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA. 54 extracellular region calcium ion binding p.G54V(1) central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 91 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) AATCATAAATCCTGAAGAATT 0.343000 22 12 0 0 0.001855 0 0 CUX2 23316 broad.mit.edu 37 12 111785777 111785777 + Missense_Mutation SNP G A A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr12:111785777G>A uc001tsa.2 + 21 4263 c.4109G>A c.(4108-4110)gGg>gAg p.G1370E NM_015267 NP_056082 O14529 CUX2_HUMAN Homo sapiens cut-like homeobox 2 (CUX2), mRNA. 1370 Pro-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 55 AGTGAGGCCGGGGAGCGACTT 0.607000 51 65 0 0 0.003610 0 0 ACSL5 51703 broad.mit.edu 37 10 114164518 114164518 + Missense_Mutation SNP C T T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr10:114164518C>T uc001kzu.3 + 4 666 c.554C>T c.(553-555)tCa>tTa p.S185L ACSL5_uc001kzs.3_Missense_Mutation_p.S129L|ACSL5_uc001kzt.3_Missense_Mutation_p.S129L|ACSL5_uc009xxz.3_Missense_Mutation_p.S129L NM_016234 NP_976314 Q9ULC5 ACSL5_HUMAN Homo sapiens acyl-CoA synthetase long-chain family member 5 (ACSL5), transcript variant 1, mRNA. 129 fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane ATP binding|long-chain fatty acid-CoA ligase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1) 21 Colorectal(252;0.117)|Breast(234;0.222) Epithelial(162;0.0343)|all cancers(201;0.137) GGTTATAAATCATCACCAGAC 0.413000 40 80 0 0 0.003610 0 0 PKD1L1 168507 broad.mit.edu 37 7 47880163 47880163 + Silent SNP C T T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr7:47880163C>T uc003tny.2 - 34 5482 c.5448G>A c.(5446-5448)gtG>gtA p.V1816V NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA. 1816 PLAT. cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 AAACAATGTACACCTCAAAAC 0.507000 57 20 0 0 0.008871 0 0 ZNF334 55713 broad.mit.edu 37 20 45130734 45130734 + Missense_Mutation SNP A G G TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr20:45130734A>G uc002xsa.3 - 3 1775 c.1313T>C c.(1312-1314)tTt>tCt p.F438S ZNF334_uc002xsb.3_Missense_Mutation_p.F377S|ZNF334_uc002xsd.3_Missense_Mutation_p.F377S|ZNF334_uc002xsc.3_Missense_Mutation_p.F415S|ZNF334_uc010ghl.3_Missense_Mutation_p.F414S Q9HCZ1 ZN334_HUMAN Homo sapiens zinc finger protein 334 (ZNF334), transcript variant 2, mRNA. 415 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0122) AGATTGACAAAAGAAGGTTTT 0.428000 68 36 0 0 0.003271 0 0 PLB1 151056 broad.mit.edu 37 2 28804976 28804976 + Silent SNP G A A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr2:28804976G>A uc002rmb.2 + 23 1652 c.1608G>A c.(1606-1608)aaG>aaA p.K536K PLB1_uc010ezj.2_Intron|PLB1_uc002rmc.3_Silent_p.K224K|PLB1_uc002rmd.1_Silent_p.K46K NM_153021 NP_694566 Q6P1J6 PLB1_HUMAN Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA. 536 4 X 308-326 AA approximate repeats. lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2) 69 Acute lymphoblastic leukemia(172;0.155) ACATTGGAAAGGCCCTGGACA 0.522000 47 36 0 0 0.006230 0 0 UBN2 254048 broad.mit.edu 37 7 138968702 138968702 + Silent SNP T C C TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr7:138968702T>C uc011kqr.2 + 14 3051 c.3051T>C c.(3049-3051)gcT>gcC p.A1017A NM_173569 NP_775840 Q6ZU65 UBN2_HUMAN Homo sapiens ubinuclein 2 (UBN2), mRNA. 1017 Ser-rich. NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 42 TAGCCAAGGCTATGGTGTCAC 0.527000 107 15 0 0 0.004007 0 0 ANKRD30BP2 149992 broad.mit.edu 37 21 14424126 14424126 + RNA SNP C G G rs143763279 by1000genomes TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr21:14424126C>G uc002yiy.3 + 4 c.2941C>G ANKRD30BP2_uc002yja.4_Non-coding_Transcript Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA. GAAGGAACATCTGAAGGAACA 0.453000 32 3 0 0 0.001984 0 0 PDZD2 23037 broad.mit.edu 37 5 31983492 31983492 + Silent SNP C T T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr5:31983492C>T uc003jhl.3 + 2 1096 c.708C>T c.(706-708)ggC>ggT p.G236G PDZD2_uc003jhm.3_Silent_p.G236G|PDZD2_uc011cnx.1_Silent_p.G62G NM_178140 NP_835260 O15018 PDZD2_HUMAN Homo sapiens PDZ domain containing 2 (PDZD2), mRNA. 236 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 AATCCAAGGGCAGCGCTGGCT 0.572000 58 23 0 0 0.003330 0 0 SAMD4A 23034 broad.mit.edu 37 14 55168907 55168907 + Silent SNP C T T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr14:55168907C>T uc001xbb.3 + 1 629 c.321C>T c.(319-321)atC>atT p.I107I SAMD4A_uc001xba.3_Silent_p.I108I|SAMD4A_uc001xbc.3_Silent_p.I108I|SAMD4A_uc001xbf.2_Non-coding_Transcript|SAMD4A_uc001xbe.3_Silent_p.I7I NM_015589 NP_056404 Q9UPU9 SMAG1_HUMAN Homo sapiens sterile alpha motif domain containing 4A (SAMD4A), transcript variant 1, mRNA. 108 positive regulation of translation cell junction|cytoplasm|dendrite|synapse|synaptosome translation repressor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1) 29 TGCCCAAAATCCTGGCTCACT 0.473000 38 21 0 0 0.002299 0 0 SLC9A2 6549 broad.mit.edu 37 2 103274316 103274316 + Missense_Mutation SNP G A A rs61743555 byFrequency TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr2:103274316G>A uc002tca.3 + 1 725 c.583G>A c.(583-585)Gaa>Aaa p.E195K NM_003048 NP_003039 Q9UBY0 SL9A2_HUMAN Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA. 195 integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 CTGCCAGATCGAAGCATTCGG 0.478000 158 149 0 0 0.003610 0 0 ODZ3 55714 broad.mit.edu 37 4 183696119 183696119 + Missense_Mutation SNP T C C TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr4:183696119T>C uc003ivd.1 + 22 5192 c.5117T>C c.(5116-5118)aTt>aCt p.I1706T NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA. 1706 signal transduction integral to membrane NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4) 129 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) TCCCTCAGAATTATCTACGCC 0.443000 15 10 0 0 0.008291 0 0 ETS2 2114 broad.mit.edu 37 21 40191596 40191596 + Silent SNP A G G TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr21:40191596A>G uc002yxf.3 + 8 1441 c.1401A>G c.(1399-1401)ccA>ccG p.P467P ETS2_uc002yxg.3_Silent_p.P327P NM_005239 NP_005230 P15036 ETS2_HUMAN Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog 2 (avian) (ETS2), transcript variant 1, mRNA. 327 positive regulation of transcription, DNA-dependent|skeletal system development nucleus protein binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 18 Prostate(19;6.33e-08)|all_epithelial(19;0.123) TCAATAAGCCAACCATGTCTT 0.532000 16 9 0 0 0.006214 0 0 MMP15 4324 broad.mit.edu 37 16 58073843 58073843 + Missense_Mutation SNP C T T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr16:58073843C>T uc002ena.3 + 3 1478 c.505C>T c.(505-507)Cgc>Tgc p.R169C NM_002428 NP_002419 P51511 MMP15_HUMAN Homo sapiens matrix metallopeptidase 15 (membrane-inserted) (MMP15), mRNA. 169 protein modification process|proteolysis extracellular matrix|integral to plasma membrane calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding p.R169H(1) breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 18 CAGGGCCTTCCGCGTGTGGGA 0.637000 18 31 0 0 0.002836 0 0 CLDN23 137075 broad.mit.edu 37 8 8560416 8560416 + Silent SNP C T T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr8:8560416C>T uc003wsi.3 + 0 751 c.508C>T c.(508-510)Ctg>Ttg p.L170L NM_194284 NP_919260 Q96B33 CLD23_HUMAN Homo sapiens claudin 23 (CLDN23), mRNA. 170 calcium-independent cell-cell adhesion|tight junction assembly integral to membrane|tight junction identical protein binding|structural molecule activity endometrium(2) 2 Hepatocellular(245;0.217) COAD - Colon adenocarcinoma(149;0.071)|READ - Rectum adenocarcinoma(644;0.238) CAGCTGCCTCCTGCTGCTGGG 0.741000 5 9 0 0 0.006214 0 0 EPHB6 2051 broad.mit.edu 37 7 142568056 142568056 + Silent SNP G A A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr7:142568056G>A uc011kst.2 + 17 3484 c.2697G>A c.(2695-2697)caG>caA p.Q899Q EPHB6_uc011ksu.2_Silent_p.Q899Q|EPHB6_uc003wbs.3_Silent_p.Q607Q|EPHB6_uc003wbt.3_Silent_p.Q373Q|EPHB6_uc003wbu.3_Silent_p.Q607Q|EPHB6_uc003wbv.3_Silent_p.Q283Q NM_004445 NP_004436 O15197 EPHB6_HUMAN Homo sapiens EPH receptor B6 (EPHB6), mRNA. 899 Protein kinase. 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) ACACTTGGCAGAAGGACCGTG 0.592000 268 52 0 0 0.003610 0 0 PPFIA1 8500 broad.mit.edu 37 11 70208222 70208222 + Silent SNP C T T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr11:70208222C>T uc001opo.3 + 19 2819 c.2604C>T c.(2602-2604)gcC>gcT p.A868A PPFIA1_uc001opn.2_Silent_p.A868A|PPFIA1_uc001opp.3_Non-coding_Transcript|PPFIA1_uc001opr.3_5'UTR NM_003626 NP_003617 Q13136 LIPA1_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 (PPFIA1), transcript variant 2, mRNA. 868 cell-matrix adhesion cytoplasm protein binding|signal transducer activity breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 65 BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513) TGGAGGAAGCCCGGAGACAAG 0.483000 64 15 0 0 0.004007 0 0 NUP188 23511 broad.mit.edu 37 9 131765638 131765638 + Missense_Mutation SNP G C C TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr9:131765638G>C uc004bws.1 + 37 4361 c.4339G>C c.(4339-4341)Gag>Cag p.E1447Q NUP188_uc004bwu.3_Missense_Mutation_p.E790Q NM_015354 NP_056169 Q5SRE5 NU188_HUMAN Homo sapiens nucleoporin 188kDa (NUP188), mRNA. 1447 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 60 GGCCTGCCTGGAGGAGGCGGA 0.572000 84 13 0 0 0.001855 0 0 F8 2157 broad.mit.edu 37 X 154176015 154176015 + Missense_Mutation SNP G A A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chrX:154176015G>A uc004fmt.3 - 12 2242 c.2071C>T c.(2071-2073)Cca>Tca p.P691S NM_000132 NP_000123 P00451 FA8_HUMAN Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA. 691 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) CCTGAGAATGGGAATAGGGTG 0.403000 23 45 0 0 0.002522 0 0 OR11H4 390442 broad.mit.edu 37 14 20711325 20711325 + Silent SNP G A A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr14:20711325G>A uc010tld.2 + 0 375 c.375G>A c.(373-375)ctG>ctA p.L125L NM_001004479 NP_001004479 Q8NGC9 O11H4_HUMAN Homo sapiens olfactory receptor, family 11, subfamily H, member 4 (OR11H4), mRNA. 125 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 29 all_cancers(95;0.000888) Epithelial(56;1.75e-06)|all cancers(55;1.22e-05) GBM - Glioblastoma multiforme(265;0.0146) GTCTCTTTCTGGCAGTAATGG 0.463000 49 34 0 0 0.002096 0 0 SLC26A3 1811 broad.mit.edu 37 7 107427286 107427286 + Silent SNP C T T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr7:107427286C>T uc003ver.2 - 7 1168 c.957G>A c.(955-957)ggG>ggA p.G319G SLC26A3_uc003ves.2_Silent_p.G284G NM_000111 NP_000102 P40879 S26A3_HUMAN Homo sapiens solute carrier family 26, member 3 (SLC26A3), mRNA. 319 excretion integral to membrane|membrane fraction inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity p.G319E(1) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 GATTCATGTCCCCAACCACAG 0.468000 50 90 0 0 0.003610 0 0 CCDC66 285331 broad.mit.edu 37 3 56627732 56627732 + Missense_Mutation SNP A C C TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr3:56627732A>C uc003dhz.3 + 8 1369 c.1282A>C c.(1282-1284)Att>Ctt p.I428L CCDC66_uc003dhy.3_Missense_Mutation_p.I64L|CCDC66_uc003dhu.3_Missense_Mutation_p.I394L|CCDC66_uc003dhx.3_Non-coding_Transcript NM_001141947 NP_001135419 A2RUB6 CCD66_HUMAN Homo sapiens coiled-coil domain containing 66 (CCDC66), transcript variant 1, mRNA. 428 breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1) 12 KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233) AGCAAAACCTATTAAGGATGT 0.413000 21 55 0 0 0.003610 0 0 NEB 4703 broad.mit.edu 37 2 152521954 152521954 + Missense_Mutation SNP G A A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr2:152521954G>A uc021vrb.1 - 39 5160 c.5131C>T c.(5131-5133)Ctt>Ttt p.L1711F NEB_uc002txu.3_Missense_Mutation_p.L1711F|NEB_uc021vrc.1_Missense_Mutation_p.L1711F|NEB_uc010fnx.3_Missense_Mutation_p.L1711F|NEB_uc021vrd.1_Missense_Mutation_p.L1711F NM_004543 NP_004534 P20929 NEBU_HUMAN Homo sapiens nebulin (NEB), transcript variant 3, mRNA. 1711 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development Z disc|actin cytoskeleton|cytosol actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) TTCTCACTAAGAATCTCTCCT 0.473000 24 10 0 0 0.008291 0 0 SLC5A3 6526 broad.mit.edu 37 21 35468240 35468240 + Missense_Mutation SNP T C C TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr21:35468240T>C uc021wir.1 + 0 743 c.743T>C c.(742-744)cTg>cCg p.L248P SLC5A3_uc002yto.3_Missense_Mutation_p.L248P|MRPS6_uc002ytp.2_Intron NM_006933 NP_008864 P53794 SC5A3_HUMAN Homo sapiens solute carrier family 5 (sodium/myo-inositol cotransporter), member 3 (SLC5A3), mRNA. 248 integral to plasma membrane myo-inositol:sodium symporter activity breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 20 AAAGAAGCCCTGAAAATGCTG 0.463000 284 273 0 0 0.003610 0 0 DHCR7 1717 broad.mit.edu 37 11 71152330 71152330 + Missense_Mutation SNP G A A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr11:71152330G>A uc001oqk.3 - 5 819 c.569C>T c.(568-570)gCc>gTc p.A190V DHCR7_uc001oql.3_Missense_Mutation_p.A190V NM_001163817 NP_001351 Q9UBM7 DHCR7_HUMAN Homo sapiens 7-dehydrocholesterol reductase (DHCR7), transcript variant 2, mRNA. 190 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane 7-dehydrocholesterol reductase activity|protein binding endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1) 19 NADH(DB00157) GGTGGAGACGGCATAGCCAAG 0.557000 Smith-Lemli-Opitz syndrome 64 18 0 0 0.001882 0 0 GIMAP8 155038 broad.mit.edu 37 7 150174613 150174613 + Silent SNP C T T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr7:150174613C>T uc003whj.3 + 4 2073 c.1743C>T c.(1741-1743)aaC>aaT p.N581N NM_175571 NP_783161 Q8ND71 GIMA8_HUMAN Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA. 581 Golgi apparatus|endoplasmic reticulum|mitochondrion GTP binding p.K580N(1) breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) TCATGAAGAACTCAGATAACA 0.488000 143 22 0 0 0.001882 0 0 ANKRD30B 374860 broad.mit.edu 37 18 14796355 14796356 + Missense_Mutation DNP GG AA AA TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr18:14796355_14796356GG>AA uc010dlo.2 + 17 2048_2049 c.1868_1869GG>AA c.(1867-1869)agg>aAA p.R623K ANKRD30B_uc010xak.2_Non-coding_Transcript|ANKRD30B_uc021uhy.1_Missense_Mutation_p.R623K NM_001145029 NP_001138501 Q9BXX2 AN30B_HUMAN Homo sapiens ankyrin repeat domain 30B (ANKRD30B), mRNA. 623 breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1) 22 ACCTGTGGAAGGAAAGTTTCTC 0.272000 3 4 0 0 0.004672 0 0 PTPRG 5793 broad.mit.edu 37 3 62253112 62253112 + Missense_Mutation SNP C T T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr3:62253112C>T uc003dlb.3 + 17 3403 c.2684C>T c.(2683-2685)cCt>cTt p.P895L PTPRG_uc003dlc.3_Missense_Mutation_p.P866L|PTPRG_uc011bfi.2_Missense_Mutation_p.P141L|LOC100506994_uc003dld.4_Intron|LOC100506994_uc010hnp.3_Intron|LOC100506994_uc003dle.4_Intron|LOC100506994_uc010hno.3_Intron NM_002841 NP_002832 P23470 PTPRG_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, G (PTPRG), mRNA. 895 Tyrosine-protein phosphatase 1. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane identical protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065) AAGTTAAGACCTTTACCAGGA 0.323000 132 12 0 0 0.002450 0 0 KIR2DL1 3802 broad.mit.edu 37 19 55290103 55290103 + Missense_Mutation SNP G A A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr19:55290103G>A uc010erz.1 + 4 742 c.704G>A c.(703-705)aGc>aAc p.S235N KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR2DL1_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL1_uc002qhb.1_Missense_Mutation_p.S235N NM_014218 NP_055033 P43626 KI2L1_HUMAN Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 (KIR2DL1), mRNA. 235 immune response|natural killer cell inhibitory signaling pathway integral to plasma membrane protein binding|receptor activity breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 17 GBM - Glioblastoma multiforme(193;0.0192) ACTGAACCAAGCTCCAAAACC 0.512000 44 72 0 0 0.003610 0 0 NPC1 4864 broad.mit.edu 37 18 21141326 21141326 + Missense_Mutation SNP G A A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr18:21141326G>A uc002kum.4 - 4 903 c.629C>T c.(628-630)tCa>tTa p.S210L NPC1_uc010xaz.2_5'Flank|NPC1_uc010xba.1_Missense_Mutation_p.S55L NM_000271 NP_000262 O15118 NPC1_HUMAN Homo sapiens Niemann-Pick disease, type C1 (NPC1), mRNA. 210 autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm hedgehog receptor activity|protein binding|sterol transporter activity breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1) 38 all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127) ATACCTACCTGAAAACACAGG 0.458000 91 55 0 0 0.003610 0 0 SAMD9 54809 broad.mit.edu 37 7 92731696 92731696 + Missense_Mutation SNP G A A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr7:92731696G>A uc003umf.3 - 2 3985 c.3715C>T c.(3715-3717)Cca>Tca p.P1239S SAMD9_uc003umg.3_Missense_Mutation_p.P1239S|SAMD9_uc022ahg.1_Missense_Mutation_p.P1239S NM_017654 NP_060124 Q5K651 SAMD9_HUMAN Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA. 1239 cytoplasm NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) GGATCCCCTGGAATATCACTA 0.274000 119 22 0 0 0.002780 0 0 GRID1 2894 broad.mit.edu 37 10 87487638 87487638 + Missense_Mutation SNP C T T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr10:87487638C>T uc001kdl.1 - 9 1608 c.1507G>A c.(1507-1509)Ggg>Agg p.G503R GRID1_uc009xsu.1_Non-coding_Transcript|GRID1_uc010qmf.1_Missense_Mutation_p.G74R NM_017551 NP_060021 Q9ULK0 GRID1_HUMAN Homo sapiens glutamate receptor, ionotropic, delta 1 (GRID1), mRNA. 503 cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5) 106 L-Glutamic Acid(DB00142) CCGATCATCCCGTTCCAGGAG 0.537000 Multiple Myeloma(13;0.14) 14 33 0 0 0.002836 0 0 ODZ3 55714 broad.mit.edu 37 4 183713931 183713931 + Missense_Mutation SNP G A A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr4:183713931G>A uc003ivd.1 + 24 6181 c.6106G>A c.(6106-6108)Gaa>Aaa p.E2036K NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA. 2036 signal transduction integral to membrane NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4) 129 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) TGTGATCAATGAAACGCCACT 0.393000 110 52 0 0 0.003610 0 0 ATRN 8455 broad.mit.edu 37 20 3540071 3540072 + Missense_Mutation DNP CT TC TC TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr20:3540071_3540072CT>TC uc002wim.2 + 6 1234_1235 c.1144_1145CT>TC c.(1144-1146)cta>TCa p.L382S ATRN_uc002wil.2_Missense_Mutation_p.L382S|ATRN_uc021vzz.1_Missense_Mutation_p.L266S NM_139321 NP_647537 O75882 ATRN_HUMAN Homo sapiens attractin (ATRN), transcript variant 1, mRNA. 382 inflammatory response extracellular space|integral to plasma membrane receptor activity|sugar binding breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 59 GTGGCTTCCACTAAACCGTTCT 0.366000 52 26 0 0 0.004672 0 0 AL117485 0 broad.mit.edu 37 22 18846164 18846164 + RNA SNP A G G TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr22:18846164A>G uc002zoe.3 + 4 c.2526A>G AL117485_uc002zof.3_5'Flank Homo sapiens cDNA FLJ76361 complete cds. CTGCGGGAGGAGGGAATGTTC 0.612000 43 4 0 0 0.000602 0 0 OR4C46 119749 broad.mit.edu 37 11 51516171 51516171 + Missense_Mutation SNP G A A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr11:51516171G>A uc010ric.2 + 0 890 c.890G>A c.(889-891)aGg>aAg p.R297K NM_001004703 NP_001004703 A6NHA9 O4C46_HUMAN Homo sapiens olfactory receptor, family 4, subfamily C, member 46 (OR4C46), mRNA. 297 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 48 AATGCCATCAGGAAATTGTGT 0.348000 23 7 0 0 0.003080 0 0 SLC7A10 56301 broad.mit.edu 37 19 33703818 33703818 + Silent SNP G A A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr19:33703818G>A uc002num.2 - 2 594 c.447C>T c.(445-447)ccC>ccT p.P149P SLC7A10_uc002nul.2_5'Flank|SLC7A10_uc010xrq.2_Silent_p.P122P NM_019849 NP_062823 Q9NS82 AAA1_HUMAN Homo sapiens solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10 (SLC7A10), mRNA. 149 blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration integral to plasma membrane L-serine transmembrane transporter activity central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1) 18 Esophageal squamous(110;0.137) TGGGGAACACGGGCTGCAGCA 0.612000 11 44 0 0 0.008740 0 0 MYH8 4626 broad.mit.edu 37 17 10304076 10304076 + Silent SNP C T T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr17:10304076C>T uc002gmm.2 - 26 3461 c.3366G>A c.(3364-3366)ggG>ggA p.G1122G AK097500_uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA. 1122 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 CGATTTCTTCCCCCAGCTCCT 0.522000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 32 20 0 0 0.008871 0 0 LINGO2 158038 broad.mit.edu 37 9 27950069 27950069 + Missense_Mutation SNP G A A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr9:27950069G>A uc003zqv.1 - 6 1251 c.601C>T c.(601-603)Cgc>Tgc p.R201C LINGO2_uc010mjf.1_Missense_Mutation_p.R201C|LINGO2_uc003zqu.1_Missense_Mutation_p.R201C|LINGO2_uc022bfc.1_Missense_Mutation_p.R201C NM_152570 NP_689783 Q7L985 LIGO2_HUMAN Homo sapiens leucine rich repeat and Ig domain containing 2 (LINGO2), mRNA. 201 integral to membrane autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 44 Melanoma(11;0.242) all_neural(11;2.78e-09) UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604) ATGAGGCTGCGGAGGTGGGAG 0.468000 9 31 0 0 0.004289 0 0 TTN 7273 broad.mit.edu 37 2 179402438 179402438 + Missense_Mutation SNP C T T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr2:179402438C>T uc021vsy.1 - 303 92017 c.91792G>A c.(91792-91794)Gaa>Aaa p.E30598K MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E24293K|TTN_uc021vta.1_Missense_Mutation_p.E24226K|TTN_uc021vtb.1_Missense_Mutation_p.E24101K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 31525 Fibronectin type-III 123. 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) CCTTCATCTTCCTGTTCCTCT 0.438000 44 15 0 0 0.002450 0 0 C7 730 broad.mit.edu 37 5 40945325 40945325 + Missense_Mutation SNP A C C TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr5:40945325A>C uc003jmh.3 + 6 707 c.593A>C c.(592-594)tAt>tCt p.Y198S C7_uc011cpn.1_Intron NM_000587 NP_000578 P10643 CO7_HUMAN Homo sapiens complement component 7 (C7), mRNA. 198 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex Ovarian(839;0.0112) GATTTTAATTATGAATTTTAC 0.303000 7 7 0 0 0.001984 0 0 MDGA1 266727 broad.mit.edu 37 6 37606313 37606313 + Splice_Site SNP C T T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr6:37606313C>T uc003onu.1 - 15 3846 c.2667_splice c.e15+1 p.Q889_splice MDGA1_uc003onv.1_Splice_Site_p.Q158_splice NM_153487 NP_705691 Q8NFP4 MDGA1_HUMAN Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 1 (MDGA1), mRNA. 889 MAM. brain development|neuron migration|spinal cord association neuron differentiation anchored to plasma membrane central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 38 ACGGACTCACCTGGAAGGGCC 0.607000 48 12 0 0 0.003163 0 0 BICD2 23299 broad.mit.edu 37 9 95480126 95480126 + Silent SNP C T T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr9:95480126C>T uc004asp.1 - 5 2268 c.2211G>A c.(2209-2211)aaG>aaA p.K737K BICD2_uc004aso.1_Silent_p.K737K NM_001003800 NP_001003800 Q8TD16 BICD2_HUMAN Homo sapiens bicaudal D homolog 2 (Drosophila) (BICD2), transcript variant 1, mRNA. 737 Interacts with RAB6A (By similarity). microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule Golgi apparatus|cytoplasmic vesicle|cytoskeleton|plasma membrane Rab GTPase binding cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 CTGCGTCCTCCTTGAGGGCCT 0.592000 12 41 0 0 0.006999 0 0 OR51A4 401666 broad.mit.edu 37 11 4968129 4968129 + Silent SNP A G G TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr11:4968129A>G uc010qys.2 - 0 202 c.202T>C c.(202-204)Ttg>Ctg p.L68L NM_001005329 NP_001005329 Q8NGJ6 O51A4_HUMAN Homo sapiens olfactory receptor, family 51, subfamily A, member 4 (OR51A4), mRNA. 68 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) GACATAGCCAACATGGAAAGA 0.418000 40 43 0 0 0.009718 0 0 PIGV 55650 broad.mit.edu 37 1 27121193 27121193 + Missense_Mutation SNP C T T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr1:27121193C>T uc001bmz.3 + 2 1031 c.668C>T c.(667-669)tCt>tTt p.S223F PIGV_uc001bna.3_Missense_Mutation_p.S223F|PIGV_uc010ofg.2_Intron NM_017837 NP_060307 Q9NUD9 PIGV_HUMAN Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class V (PIGV), transcript variant 2, mRNA. 223 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane glycolipid mannosyltransferase activity NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2) 14 all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227) GGCTTTTTCTCTTCTCTAACG 0.507000 43 48 0 0 0.002852 0 0 OR9A2 135924 broad.mit.edu 37 7 142724187 142724187 + Silent SNP G A A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr7:142724187G>A uc003wcc.1 - 0 33 c.33C>T c.(31-33)ttC>ttT p.F11F NM_001001658 NP_001001658 Q8NGT5 OR9A2_HUMAN Homo sapiens olfactory receptor, family 9, subfamily A, member 2 (OR9A2), mRNA. 11 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3) 25 Melanoma(164;0.059) CTAGAAGGTGGAATTCAGTGG 0.428000 30 46 0 0 0.003610 0 0 SLC6A18 348932 broad.mit.edu 37 5 1239663 1239663 + Silent SNP T C C TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr5:1239663T>C uc003jby.2 + 5 954 c.831T>C c.(829-831)agT>agC p.S277S NM_182632 NP_872438 Q96N87 S6A18_HUMAN Homo sapiens solute carrier family 6, member 18 (SLC6A18), mRNA. 277 cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1) 34 all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10) Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) CTTTTGCAAGTTACAACTCGC 0.582000 51 24 0 0 0.003330 0 0 MUC17 140453 broad.mit.edu 37 7 100684853 100684854 + Missense_Mutation DNP GG AA AA TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr7:100684853_100684854GG>AA uc003uxp.1 + 2 10209_10210 c.10156_10157GG>AA c.(10156-10158)ggt>AAt p.G3386N MUC17_uc010lho.1_Non-coding_Transcript NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN Homo sapiens mucin 17, cell surface associated (MUC17), mRNA. 3386 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) AACTGCTGAAGGTACCAGCATA 0.510000 477 47 0 0 0.004672 0 0 MACROD2 140733 broad.mit.edu 37 20 15967391 15967391 + Silent SNP G A A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr20:15967391G>A uc002wou.3 + 13 1269 c.1005G>A c.(1003-1005)acG>acA p.T335T MACROD2_uc002wot.3_Silent_p.T335T|MACROD2_uc002woz.3_Silent_p.T100T|MACROD2_uc002wpb.3_Silent_p.T100T|MACROD2_uc002wpd.3_5'UTR NM_080676 NP_542407 A1Z1Q3 MACD2_HUMAN Homo sapiens MACRO domain containing 2 (MACROD2), transcript variant 1, mRNA. 335 Glu-rich. T -> M (in dbSNP:rs41275442). breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1) 20 all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175) ATGATTCAACGAAGAATGAAA 0.338000 13 12 0 0 0.001368 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110457223 110457223 + Missense_Mutation SNP G A A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr8:110457223G>A uc003yne.3 + 37 5229 c.5125G>A c.(5125-5127)Gcc>Acc p.A1709T NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA. 1709 IPT/TIG 9. 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) GAATTATACGGCCATTGAATG 0.458000 HNSCC(38;0.096) 126 77 0 0 0.003610 0 0 PTBP3 9991 broad.mit.edu 37 9 114989800 114989800 + Silent SNP G A A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr9:114989800G>A uc004bfv.3 - 11 1540 c.1357C>T c.(1357-1359)Ctg>Ttg p.L453L MIR3134_uc022bma.1_Intron|PTBP3_uc004bfx.3_Silent_p.L450L|PTBP3_uc004bfw.3_Silent_p.L447L|PTBP3_uc011lwu.2_Silent_p.L419L|PTBP3_uc004bfz.3_Silent_p.L419L|PTBP3_uc004bfy.3_Silent_p.L352L NM_001244898 NP_001231827 O95758 ROD1_HUMAN Homo sapiens polypyrimidine tract binding protein 3 (PTBP3), transcript variant 6, mRNA. 447 anatomical structure morphogenesis|mRNA processing nucleus RNA binding|nucleotide binding TCCTTAGTCAGACCTTGGTCT 0.453000 20 50 0 0 0.003610 0 0 RNF152 220441 broad.mit.edu 37 18 59483490 59483490 + Silent SNP G A A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr18:59483490G>A uc002lih.1 - 1 619 c.207C>T c.(205-207)ctC>ctT p.L69L RNF152_uc021ula.1_Silent_p.L69L NM_173557 NP_775828 Q8N8N0 RN152_HUMAN Homo sapiens ring finger protein 152 (RNF152), mRNA. 69 apoptosis|protein K48-linked ubiquitination integral to membrane|lysosomal membrane ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1) 17 Colorectal(73;0.186) GGTCGTCCGGGAGCTGCGACA 0.627000 20 12 0 0 0.000978 0 0 DIDO1 11083 broad.mit.edu 37 20 61542877 61542877 + Nonsense_Mutation SNP G A A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr20:61542877G>A uc002ydr.2 - 2 400 c.88C>T c.(88-90)Cga>Tga p.R30* DIDO1_uc002yds.2_Nonsense_Mutation_p.R30*|DIDO1_uc002ydt.2_Nonsense_Mutation_p.R30*|DIDO1_uc002ydu.2_Nonsense_Mutation_p.R30*|DIDO1_uc002ydv.2_Nonsense_Mutation_p.R30*|DIDO1_uc002ydw.2_Nonsense_Mutation_p.R30*|DIDO1_uc002ydx.2_Nonsense_Mutation_p.R30*|DIDO1_uc011aao.1_Nonsense_Mutation_p.R30* NM_001193369 NP_149072 Q9BTC0 DIDO1_HUMAN Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA. 30 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) GTGGTCCTTCGAAAACCCCAT 0.617000 7 11 0 0 0.001368 0 0 ANAPC1 64682 broad.mit.edu 37 2 112608394 112608394 + Missense_Mutation SNP T C C TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr2:112608394T>C uc002thi.3 - 13 1856 c.1609A>G c.(1609-1611)Act>Gct p.T537A NM_022662 NP_073153 Q9H1A4 APC1_HUMAN Homo sapiens anaphase promoting complex subunit 1 (ANAPC1), mRNA. 537 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm p.T537A(10) NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 49 GGCTTTGGAGTACTAACGCCA 0.433000 96 4 0 0 0.009096 0 0 GPR85 54329 broad.mit.edu 37 7 112724154 112724154 + Missense_Mutation SNP A T T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr7:112724154A>T uc010ljv.2 - 1 1140 c.623T>A c.(622-624)tTc>tAc p.F208Y GPR85_uc003vgp.1_Missense_Mutation_p.F208Y|GPR85_uc003vgq.2_Missense_Mutation_p.F208Y|GPR85_uc010ljw.1_Missense_Mutation_p.F208Y|GPR85_uc022akd.1_Missense_Mutation_p.F208Y NM_001146266 NP_061843 P60893 GPR85_HUMAN Homo sapiens G protein-coupled receptor 85 (GPR85), transcript variant 3, mRNA. 208 integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 17 ATCGTGGACGAAAAATATCAG 0.502000 77 16 0 0 0.003163 0 0 TTN 7273 broad.mit.edu 37 2 179398792 179398792 + Missense_Mutation SNP C T T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr2:179398792C>T uc021vsy.1 - 306 95071 c.94846G>A c.(94846-94848)Gaa>Aaa p.E31616K MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E25311K|TTN_uc021vta.1_Missense_Mutation_p.E25244K|TTN_uc021vtb.1_Missense_Mutation_p.E25119K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 32543 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.E25311K(1)|p.E31614K(1)|p.E25119K(1) 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) TAGGTGATTTCGTATTTCTCA 0.403000 72 46 0 0 0.003610 0 0 VPS13B 157680 broad.mit.edu 37 8 100115224 100115224 + Silent SNP C T T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr8:100115224C>T uc003yiv.3 + 4 567 c.456C>T c.(454-456)aaC>aaT p.N152N VPS13B_uc003yiw.3_Silent_p.N152N|VPS13B_uc003yit.3_Silent_p.N152N|VPS13B_uc003yiu.1_Silent_p.N152N|VPS13B_uc003yis.3_Silent_p.N152N|VPS13B_uc011lgy.2_Silent_p.N28N NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA. 152 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) ATAATGTAAACATTGTGATAA 0.289000 70 11 0 0 0.001368 0 0 NCOR2 9612 broad.mit.edu 37 12 124870393 124870393 + Silent SNP C T T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr12:124870393C>T uc021rga.1 - 16 2034 c.1917G>A c.(1915-1917)cgG>cgA p.R639R NCOR2_uc021rgb.1_Silent_p.R639R|NCOR2_uc010tbb.2_Silent_p.R639R|NCOR2_uc010tbc.2_Silent_p.R638R|NCOR2_uc021rgc.1_Silent_p.R638R|NCOR2_uc010tba.2_Silent_p.R639R|NCOR2_uc001ugj.1_Silent_p.R639R NM_006312 NP_006303 Q9Y618 NCOR2_HUMAN Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA. 639 SANT 2. cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) AGCCCACCATCCGGGCGATGG 0.592000 68 28 0 0 0.006320 0 0 IRF2 3660 broad.mit.edu 37 4 185329312 185329312 + Splice_Site SNP C T T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr4:185329312C>T uc003iwf.4 - 6 729 c.529_splice c.e6+1 p.V177_splice NM_002199 NP_002190 P14316 IRF2_HUMAN Homo sapiens interferon regulatory factor 2 (IRF2), mRNA. 177 blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway focal adhesion|nucleoplasm DNA binding|protein binding|sequence-specific DNA binding transcription factor activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2) 22 all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592) all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419) AACAGTTTACCTATGATGTTC 0.403000 29 27 0 0 0.006320 0 0 COMMD4 54939 broad.mit.edu 37 15 75632106 75632106 + Missense_Mutation SNP C T T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr15:75632106C>T uc002azy.3 + 6 503 c.446C>T c.(445-447)tCc>tTc p.S149F COMMD4_uc010umf.1_3'UTR|COMMD4_uc002azz.3_Intron|COMMD4_uc002baa.3_Intron|COMMD4_uc010umg.2_3'UTR NM_017828 NP_060298 Q9H0A8 COMD4_HUMAN Homo sapiens COMM domain containing 4 (COMMD4), mRNA. 149 COMM. cytoplasm protein binding breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|prostate(1) 10 CTGCTGCAATCCGTGGAAGAG 0.627000 24 19 0 0 0.008871 0 0 SFXN1 94081 broad.mit.edu 37 5 174937146 174937146 + Missense_Mutation SNP A G G TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr5:174937146A>G uc003mda.2 + 3 508 c.370A>G c.(370-372)Aac>Gac p.N124D SFXN1_uc003mdb.1_Missense_Mutation_p.N63D NM_022754 NP_073591 Q9H9B4 SFXN1_HUMAN Homo sapiens sideroflexin 1 (SFXN1), mRNA. 124 iron ion homeostasis integral to membrane cation transmembrane transporter activity|protein binding endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(3) 15 all_cancers(89;0.00922)|Renal(175;0.000269)|Lung NSC(126;0.00515)|all_lung(126;0.00873) Medulloblastoma(196;0.0399)|all_neural(177;0.0663) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) GCAGTGGATTAACCAGTCCTT 0.532000 6 10 0 0 0.000978 0 0 GDF2 2658 broad.mit.edu 37 10 48414162 48414162 + Missense_Mutation SNP C T T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr10:48414162C>T uc001jfa.1 - 1 866 c.706G>A c.(706-708)Ggc>Agc p.G236S NM_016204 NP_057288 Q9UK05 GDF2_HUMAN Homo sapiens growth differentiation factor 2 (GDF2), mRNA. 236 BMP signaling pathway|activin receptor signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of DNA replication|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 28 GTGTCGCAGCCCTTCCTGTGG 0.577000 16 21 0 0 0.010504 0 0 CECR2 27443 broad.mit.edu 37 22 18028750 18028750 + Missense_Mutation SNP C T T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr22:18028750C>T uc010gqw.1 + 15 3701 c.3701C>T c.(3700-3702)tCt>tTt p.S1234F CECR2_uc010gqv.1_Missense_Mutation_p.S1094F|CECR2_uc002zml.2_Missense_Mutation_p.S1095F|CECR2_uc002zmo.2_Non-coding_Transcript NM_031413 NP_113601 Q9BXF3 CECR2_HUMAN Homo sapiens cat eye syndrome chromosome region, candidate 2 (CECR2), mRNA. 1278 DNA fragmentation involved in apoptotic nuclear change|chromatin modification|cytokinesis|cytoskeleton organization|vesicle-mediated transport protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 59 all_epithelial(15;0.139) Lung(27;0.146) GCCTTAACTTCTCCAACCCGT 0.547000 93 126 0 0 0.003610 0 0 CNGB3 54714 broad.mit.edu 37 8 87683294 87683294 + Missense_Mutation SNP A T T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr8:87683294A>T uc003ydx.3 - 3 419 c.371T>A c.(370-372)aTa>aAa p.I124K CNGB3_uc010maj.3_5'UTR NM_019098 NP_061971 Q9NQW8 CNGB3_HUMAN Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA. 124 signal transduction|visual perception integral to membrane cGMP binding NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 80 ATACTCATTTATAACAGGAGC 0.418000 204 95 0 0 0.003610 0 0 TRPM7 54822 broad.mit.edu 37 15 50931720 50931720 + Silent SNP G A A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr15:50931720G>A uc001zyt.4 - 5 843 c.561C>T c.(559-561)gcC>gcT p.A187A TRPM7_uc010bew.2_Silent_p.A187A NM_017672 NP_060142 Q96QT4 TRPM7_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 7 (TRPM7), mRNA. 187 cell death integral to membrane ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity p.A187T(1) breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3) 52 all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045) GTTCTTTGAGGGCATCTCCAA 0.388000 29 14 0 0 0.006122 0 0 DNAH8 1769 broad.mit.edu 37 6 38980260 38980260 + Missense_Mutation SNP C T T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr6:38980260C>T uc021yzh.1 + 90 13670 c.13561C>T c.(13561-13563)Cgt>Tgt p.R4521C DNAH8_uc003ooe.2_Missense_Mutation_p.R4304C NM_001206927 NP_001193856 Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA. 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 GTATGATGCTCGTATACCTCA 0.408000 58 16 0 0 0.004007 0 0 NGEF 25791 broad.mit.edu 37 2 233785073 233785073 + Missense_Mutation SNP T C C TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr2:233785073T>C uc002vts.2 - 4 997 c.749A>G c.(748-750)aAc>aGc p.N250S NGEF_uc010fyg.1_Missense_Mutation_p.N158S|NGEF_uc002vtt.2_Missense_Mutation_p.N158S NM_019850 NP_062824 Q8N5V2 NGEF_HUMAN Homo sapiens neuronal guanine nucleotide exchange factor (NGEF), transcript variant 1, mRNA. 250 Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity). apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|growth cone|plasma membrane Rho guanyl-nucleotide exchange factor activity central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4) 35 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604) CTGCCAGAGGTTGAACCTTGA 0.617000 85 41 0 0 0.002522 0 0 LETMD1 25875 broad.mit.edu 37 12 51447632 51447632 + Silent SNP C T T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr12:51447632C>T uc009zlw.3 + 3 559 c.501C>T c.(499-501)gtC>gtT p.V167V LETMD1_uc010smz.2_Silent_p.V104V|LETMD1_uc010sna.2_Intron|LETMD1_uc001rxm.3_Silent_p.V154V|LETMD1_uc001rxn.3_5'UTR|LETMD1_uc001rxo.3_Intron|LETMD1_uc001rxr.3_Intron|LETMD1_uc001rxl.3_Silent_p.V98V|LETMD1_uc001rxt.3_Intron NM_001243689 NP_001230618 Q6P1Q0 LTMD1_HUMAN Homo sapiens LETM1 domain containing 1 (LETMD1), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA. 154 LETM1. integral to membrane|mitochondrial outer membrane protein binding central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3) 16 ACTACCTGGTCTTCTTGCTAA 0.368000 123 41 0 0 0.003610 0 0 NPAT 4863 broad.mit.edu 37 11 108059962 108059962 + Missense_Mutation SNP G A A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr11:108059962G>A uc001pjz.4 - 5 529 c.427C>T c.(427-429)Ctt>Ttt p.L143F NPAT_uc001pka.3_5'UTR NM_002519 NP_002510 Q14207 NPAT_HUMAN Homo sapiens nuclear protein, ataxia-telangiectasia locus (NPAT), mRNA. 143 Interaction with MIZF.|Required for activation of histone gene transcription and interaction with MIZF. positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle Cajal body protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5) 46 all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|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) BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116) TGTCCTGAAAGGTAAGGTAAA 0.468000 49 52 0 0 0.003610 0 0 MUC5B 727897 broad.mit.edu 37 11 1271266 1271266 + Missense_Mutation SNP C T T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr11:1271266C>T uc001lta.3 + 30 13215 c.13156C>T c.(13156-13158)Ccg>Tcg p.P4386S NM_002458 NP_002449 Q9HC84 MUC5B_HUMAN Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA. 4386 23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CTCCTCCACTCCGGGGACGAC 0.672000 64 21 0 0 0.001882 0 0 ZNF682 91120 broad.mit.edu 37 19 20135111 20135111 + Silent SNP C T T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr19:20135111C>T uc002noq.3 - 1 201 c.78G>A c.(76-78)caG>caA p.Q26Q ZNF682_uc002noo.3_5'UTR|ZNF682_uc002nop.3_5'UTR|ZNF682_uc010eck.3_Intron NM_033196 NP_001070817 O95780 ZN682_HUMAN Homo sapiens zinc finger protein 682 (ZNF682), transcript variant 1, mRNA. 26 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1) 14 TATACAAACTCTGCTGAGCAG 0.388000 8 32 0 0 0.002445 0 0 MUC3A 4584 broad.mit.edu 37 7 100608884 100608884 + Missense_Mutation SNP G A A rs73163797 by1000genomes TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr7:100608884G>A uc003uxl.1 + 6 2763 c.1963G>A c.(1963-1965)Gcg>Acg p.A655T AK096803_uc003uxm.1_Non-coding_Transcript|AK096803_uc003uxn.1_Intron|MUC3A_uc010lhn.1_Non-coding_Transcript SubName: Full=Intestinal mucin; Flags: Fragment; p.A755T(1) breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 GAGCGGTCCCGCGTGTCGGTA 0.667000 26 10 0 0 0.004990 0 0 OR6K3 391114 broad.mit.edu 37 1 158687446 158687446 + Missense_Mutation SNP G A A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr1:158687446G>A uc021pbn.1 - 0 460 c.460C>T c.(460-462)Ctt>Ttt p.L154F NM_001005327 NP_001005327 Q8NGY3 OR6K3_HUMAN Homo sapiens olfactory receptor, family 6, subfamily K, member 3 (OR6K3), mRNA. 170 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1) 41 all_hematologic(112;0.0378) AGCAGGATAAGGAAACCGAAG 0.512000 17 55 0 0 0.003610 0 0 NXF3 56000 broad.mit.edu 37 X 102338427 102338427 + Missense_Mutation SNP G A A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chrX:102338427G>A uc004eju.3 - 4 510 c.439C>T c.(439-441)Cac>Tac p.H147Y NXF3_uc010noi.1_5'UTR|NXF3_uc011mrw.1_Missense_Mutation_p.H147Y|NXF3_uc011mrx.1_Missense_Mutation_p.H58Y NM_022052 NP_071335 Q9H4D5 NXF3_HUMAN Homo sapiens nuclear RNA export factor 3 (NXF3), mRNA. 147 RRM. cytoplasm|nuclear RNA export factor complex nucleocytoplasmic transporter activity|nucleotide binding|protein binding NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 TTTTCATAGTGAAACTATAGG 0.468000 18 25 0 0 0.002780 0 0 HDAC4 9759 broad.mit.edu 37 2 240033331 240033331 + Silent SNP G A A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr2:240033331G>A uc002vyk.4 - 13 2646 c.1854C>T c.(1852-1854)ccC>ccT p.P618P HDAC4_uc010fyz.1_Silent_p.P613P|HDAC4_uc010zoa.1_Silent_p.P618P|HDAC4_uc010fza.2_Silent_p.P623P|HDAC4_uc010fyy.3_Silent_p.P575P|HDAC4_uc010znz.1_Silent_p.P501P NM_006037 NP_006028 P56524 HDAC4_HUMAN Homo sapiens histone deacetylase 4 (HDAC4), mRNA. 618 B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent histone deacetylase complex|transcriptional repressor complex NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|potassium ion binding|repressing transcription factor binding|zinc ion binding NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5) 62 all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159) Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04) CGAAGGACACGGGGATGCCGG 0.692000 7 10 0 0 0.000978 0 0 CHD1 1105 broad.mit.edu 37 5 98223809 98223809 + Missense_Mutation SNP G A A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr5:98223809G>A uc003knf.3 - 15 2627 c.2479C>T c.(2479-2481)Cgt>Tgt p.R827C U6_uc021ybv.1_5'Flank NM_001270 NP_001261 O14646 CHD1_HUMAN Homo sapiens chromodomain helicase DNA binding protein 1 (CHD1), mRNA. 827 Helicase C-terminal. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 49 all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117) COAD - Colon adenocarcinoma(37;0.0717) Epirubicin(DB00445) GGGAATTGACGATATTTCAAA 0.289000 27 9 0 0 0.000978 0 0 RBP3 5949 broad.mit.edu 37 10 48388676 48388676 + Silent SNP G A A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr10:48388676G>A uc001jez.3 - 0 2316 c.2202C>T c.(2200-2202)ttC>ttT p.F734F NM_002900 NP_002891 P10745 RET3_HUMAN Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA. 734 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) CCTCTGTCTTGAACAGGGCCT 0.637000 14 27 0 0 0.007291 0 0 CHGB 1114 broad.mit.edu 37 20 5903556 5903556 + Nonsense_Mutation SNP C T T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr20:5903556C>T uc002wmg.3 + 3 1072 c.766C>T c.(766-768)Caa>Taa p.Q256* CHGB_uc010zqz.2_5'UTR NM_001819 NP_001810 P05060 SCG1_HUMAN Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA. 256 extracellular region hormone activity breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 47 GTCTAAAGGCCAACCCCGAAG 0.587000 8 11 0 0 0.008291 0 0 ERV3-1 2086 broad.mit.edu 37 7 64452924 64452924 + Missense_Mutation SNP G A A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr7:64452924G>A uc011kdr.2 - 1 1075 c.481C>T c.(481-483)Cca>Tca p.P161S ZNF117_uc003ttr.2_5'Flank|ERV3-1_uc022afc.1_Missense_Mutation_p.P161S NM_001007253 NP_001007254 Q14264 ENR1_HUMAN Homo sapiens endogenous retrovirus group 3, member 1 (ERV3-1), mRNA. 161 virion breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8) 16 gttgttactggggaatcggtg 0.443000 100 45 0 0 0.008740 0 0 NAAA 27163 broad.mit.edu 37 4 76861192 76861192 + Silent SNP C T T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr4:76861192C>T uc003hjb.3 - 1 397 c.333G>A c.(331-333)gcG>gcA p.A111A NAAA_uc003hja.3_Silent_p.A111A|NAAA_uc003hjc.4_Silent_p.A111A|NAAA_uc003hjd.4_Non-coding_Transcript|NAAA_uc011cbq.2_Silent_p.A10A|NAAA_uc010iiz.1_Silent_p.A111A NM_014435 NP_055250 Q02083 NAAA_HUMAN Homo sapiens N-acylethanolamine acid amidase (NAAA), transcript variant 1, mRNA. 111 lipid metabolic process lysosome hydrolase activity endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1) 11 GAAGGCAGTCCGCCAGGCTGA 0.642000 43 29 0 0 0.007291 0 0 CCKAR 886 broad.mit.edu 37 4 26491812 26491812 + Silent SNP C T T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr4:26491812C>T uc003gse.1 - 0 231 c.78G>A c.(76-78)acG>acA p.T26T NM_000730 NP_000721 P32238 CCKAR_HUMAN Homo sapiens cholecystokinin A receptor (CCKAR), mRNA. 26 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient integral to plasma membrane cholecystokinin receptor activity NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1) 29 Breast(46;0.0503) Ceruletide(DB00403) AGCAGAAAAGCGTCTCATTTT 0.478000 31 13 0 0 0.001855 0 0 MYO15A 51168 broad.mit.edu 37 17 18058014 18058014 + Silent SNP C T T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr17:18058014C>T uc021trm.1 + 43 8388 c.8169C>T c.(8167-8169)tcC>tcT p.S2723S MYO15A_uc021trl.1_Silent_p.S2721S|MYO15A_uc010vxi.2_5'UTR|MYO15A_uc010vxj.1_Intron|MYO15A_uc010vxk.1_Intron NM_016239 NP_057323 Q9UKN7 MYO15_HUMAN Homo sapiens myosin XVA (MYO15A), mRNA. 2723 Tail. sensory perception of sound cytoplasm|myosin complex|stereocilium ATP binding|actin binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) ACACGCTCTCCGAGGCCTGCC 0.597000 36 25 0 0 0.004656 0 0 ENOX2 10495 broad.mit.edu 37 X 129813711 129813711 + Missense_Mutation SNP G A A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chrX:129813711G>A uc004evw.3 - 6 770 c.352C>T c.(352-354)Cct>Tct p.P118S ENOX2_uc004evx.3_Missense_Mutation_p.P89S|ENOX2_uc004evy.3_Missense_Mutation_p.P89S|ENOX2_uc004evv.3_5'UTR NM_182314 NP_006366 Q16206 ENOX2_HUMAN Homo sapiens ecto-NOX disulfide-thiol exchanger 2 (ENOX2), transcript variant 2, mRNA. 118 Pro-rich. cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm cytosol|external side of plasma membrane|extracellular space nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3) 33 CGGGTTGCAGGAGGTGGGAGA 0.443000 40 25 0 0 0.005443 0 0 TRIM49 57093 broad.mit.edu 37 11 89537605 89537605 + Silent SNP C T T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr11:89537605C>T uc001pdb.3 - 2 362 c.33G>A c.(31-33)ggG>ggA p.G11G NM_020358 NP_065091 P0CI25 TRI49_HUMAN Homo sapiens tripartite motif containing 49 (TRIM49), mRNA. 11 intracellular zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1) 27 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) AGATGAGTTCCCCCTGAAAGA 0.468000 14 19 0 0 0.003954 0 0 OR6M1 390261 broad.mit.edu 37 11 123676126 123676126 + Missense_Mutation SNP C T T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr11:123676126C>T uc010rzz.2 - 0 932 c.932G>A c.(931-933)aGg>aAg p.R311K NM_001005325 NP_001005325 Q8NGM8 OR6M1_HUMAN Homo sapiens olfactory receptor, family 6, subfamily M, member 1 (OR6M1), mRNA. 311 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1) 29 Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028) TCAAGTTTTCCTTTGTATCAA 0.378000 71 11 0 0 0.000978 0 0 PCYOX1L 78991 broad.mit.edu 37 5 148743682 148743682 + Silent SNP C T T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr5:148743682C>T uc003lqk.2 + 2 441 c.379C>T c.(379-381)Ctg>Ttg p.L127L PCYOX1L_uc003lql.2_Silent_p.L110L|PCYOX1L_uc010jgz.2_Silent_p.L110L|PCYOX1L_uc003lqm.2_Silent_p.L9L|PCYOX1L_uc003lqn.2_Silent_p.L37L NM_024028 NP_076933 Q8NBM8 PCYXL_HUMAN Homo sapiens prenylcysteine oxidase 1 like (PCYOX1L), mRNA. 127 prenylcysteine catabolic process extracellular region oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 11 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGACTGGTACCTGCTGAACCT 0.612000 15 39 0 0 0.004878 0 0 IMPAD1 54928 broad.mit.edu 37 8 57878821 57878821 + Missense_Mutation SNP G A A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr8:57878821G>A uc003xte.4 - 3 1023 c.737C>T c.(736-738)tCa>tTa p.S246L NM_017813 NP_060283 Q9NX62 IMPA3_HUMAN Homo sapiens inositol monophosphatase domain containing 1 (IMPAD1), mRNA. 246 Golgi apparatus|integral to membrane inositol-1(or 4)-monophosphatase activity|metal ion binding kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1) 7 all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448) GACCATCCCTGAATGGGAACG 0.498000 53 41 0 0 0.007835 0 0 GFI1B 8328 broad.mit.edu 37 9 135865214 135865214 + Missense_Mutation SNP C G G TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr9:135865214C>G uc004ccg.3 + 5 1089 c.734C>G c.(733-735)aCg>aGg p.T245R GFI1B_uc010mzy.3_Missense_Mutation_p.T199R NM_004188 NP_004179 Q5VTD9 GFI1B_HUMAN Homo sapiens growth factor independent 1B transcription repressor (GFI1B), transcript variant 1, mRNA. 245 Interaction with ARIH2.|Mediates interaction with GATA1. cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|zinc ion binding central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1) 21 OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05) CACTCAGACACGCGGCCCTAC 0.612000 10 23 0 0 0.001882 0 0 DENND5A 23258 broad.mit.edu 37 11 9199768 9199768 + Missense_Mutation SNP G A A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr11:9199768G>A uc001mhl.3 - 7 2074 c.1817C>T c.(1816-1818)tCc>tTc p.S606F DENND5A_uc010rbw.2_Missense_Mutation_p.S606F|DENND5A_uc010rbx.2_Non-coding_Transcript NM_015213 NP_056028 Q6IQ26 DEN5A_HUMAN Homo sapiens DENN/MADD domain containing 5A (DENND5A), transcript variant 1, mRNA. 606 breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 GTCAACTCGGGAATCAAATAC 0.448000 142 31 0 0 0.002096 0 0 SDK2 54549 broad.mit.edu 37 17 71415334 71415334 + Silent SNP C T T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr17:71415334C>T uc010dfm.3 - 15 2157 c.2157G>A c.(2155-2157)caG>caA p.Q719Q SDK2_uc010dfn.2_Silent_p.Q398Q NM_001144952 NP_001138424 Q58EX2 SDK2_HUMAN Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA. 719 Fibronectin type-III 2. cell adhesion integral to membrane breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 GAATTCCATTCTGGTGGCTCT 0.617000 6 17 0 0 0.006122 0 0 RSF1 51773 broad.mit.edu 37 11 77409717 77409717 + Nonsense_Mutation SNP G A A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr11:77409717G>A uc001oyn.3 - 6 2650 c.2530C>T c.(2530-2532)Cga>Tga p.R844* RSF1_uc001oym.3_Nonsense_Mutation_p.R592* NM_016578 NP_057662 Q96T23 RSF1_HUMAN Homo sapiens remodeling and spacing factor 1 (RSF1), mRNA. 844 CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent RSF complex histone binding|protein binding|zinc ion binding p.R844*(2) breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152) Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31) CCAGTCCATCGAACTTTGCCT 0.368000 64 16 0 0 0.008871 0 0 PLCL2 23228 broad.mit.edu 37 3 17052710 17052710 + Silent SNP C T T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr3:17052710C>T uc011awc.2 + 2 1944 c.1848C>T c.(1846-1848)atC>atT p.I616I PLCL2_uc011awd.2_Silent_p.I498I NM_001144382 NP_001137854 Q9UPR0 PLCL2_HUMAN Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA. 624 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 43 TGGTCAGCATCTGCAAATCAG 0.433000 40 10 0 0 0.006214 0 0 RTP2 344892 broad.mit.edu 37 3 187416342 187416342 + Missense_Mutation SNP G A A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr3:187416342G>A uc003fro.1 - 1 1051 c.622C>T c.(622-624)Ctc>Ttc p.L208F NM_001004312 NP_001004312 Q5QGT7 RTP2_HUMAN Homo sapiens receptor (chemosensory) transporter protein 2 (RTP2), mRNA. 208 protein insertion into membrane cell surface|integral to membrane|plasma membrane olfactory receptor binding large_intestine(3)|lung(14)|skin(1) 18 all_cancers(143;4.06e-12)|Ovarian(172;0.0418) OV - Ovarian serous cystadenocarcinoma(80;1.76e-18) GBM - Glioblastoma multiforme(93;0.0515) AGCAGGCAGAGAGAGGCCCAG 0.582000 25 34 0 0 0.003755 0 0 KRTAP5-10 387273 broad.mit.edu 37 11 71277230 71277230 + Missense_Mutation SNP G T T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr11:71277230G>T uc001oqt.1 + 0 622 c.597G>T c.(595-597)caG>caT p.Q199H NM_001012710 NP_001012728 Q6L8G5 KR510_HUMAN Homo sapiens keratin associated protein 5-10 (KRTAP5-10), mRNA. 199 keratin filament endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 12 TGTGCTGCCAGTGTAAGATCT 0.547000 27 44 1.19451e-25 1.25565e-25 0.003610 1 0 F8 2157 broad.mit.edu 37 X 154194287 154194287 + Silent SNP G A A rs149756842 TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chrX:154194287G>A uc004fmt.3 - 8 1572 c.1401C>T c.(1399-1401)atC>atT p.I467I NM_000132 NP_000123 P00451 FA8_HUMAN Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA. 467 F5/8 type A 2.|Plastocyanin-like 3. 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) AAGGTCCCAAGATTCCTGATT 0.408000 20 53 0 0 0.003610 0 0 UBE2I 7329 broad.mit.edu 37 16 1370212 1370213 + Missense_Mutation DNP CC TT TT TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr16:1370212_1370213CC>TT uc002clc.2 + 4 391_392 c.261_262CC>TT c.(259-264)taccct>taTTct p.P88S UBE2I_uc002cld.2_Missense_Mutation_p.P88S|UBE2I_uc002clf.2_Missense_Mutation_p.P88S|UBE2I_uc002clg.2_Missense_Mutation_p.P88S|UBE2I_uc002clh.1_Missense_Mutation_p.P88S|UBE2I_uc002cli.1_Missense_Mutation_p.P88S NM_194261 NP_919237 P63279 UBC9_HUMAN Homo sapiens ubiquitin-conjugating enzyme E2I (UBE2I), transcript variant 4, mRNA. 88 VYPS -> GVPF (in Ref. 6; AAC50603). cell division|chromosome segregation|interspecies interaction between organisms|mitosis|negative regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|protein sumoylation PML body|cytoplasm|synaptonemal complex ATP binding|enzyme binding|ubiquitin-protein ligase activity breast(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1) 5 Hepatocellular(780;0.00369) CGAATGTGTACCCTTCGGGGAC 0.550000 47 14 0 0 0.004672 0 0 BAI3 577 broad.mit.edu 37 6 70071078 70071078 + Missense_Mutation SNP G A A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr6:70071078G>A uc010kak.3 + 27 4189 c.3913G>A c.(3913-3915)Gaa>Aaa p.E1305K BAI3_uc003pev.4_Missense_Mutation_p.E1305K|BAI3_uc011dxx.2_Missense_Mutation_p.E511K NM_001704 NP_001695 O60242 BAI3_HUMAN Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA. 1305 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) AAGAATGATGGAAAGTGACTA 0.388000 24 22 0 0 0.010504 0 0 MRE11A 4361 broad.mit.edu 37 11 94192583 94192583 + Silent SNP G A A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr11:94192583G>A uc009ywj.2 - 12 1820 c.1500C>T c.(1498-1500)atC>atT p.I500I MRE11A_uc001peu.2_Silent_p.I497I|MRE11A_uc001pev.2_Silent_p.I497I P49959 MRE11_HUMAN Homo sapiens MRE11 meiotic recombination 11 homolog A (S. cerevisiae) (MRE11A), transcript variant 1, mRNA. 497 DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase Mre11 complex|nucleoplasm 3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 29 Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824) CCTCCTCATCGATTTTGTCTT 0.353000 Homologous recombination Ataxia-Telangiectasia-Like Disorder 48 14 0 0 0.004007 0 0 MYOM2 9172 broad.mit.edu 37 8 2037919 2037919 + Missense_Mutation SNP G A A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr8:2037919G>A uc003wpx.4 + 14 1871 c.1733G>A c.(1732-1734)gGg>gAg p.G578E MYOM2_uc011kwi.2_Missense_Mutation_p.G3E NM_003970 NP_003961 P54296 MYOM2_HUMAN Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA. 578 Fibronectin type-III 2. muscle contraction myosin filament structural constituent of muscle p.G578W(1) autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3) 104 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) CTCATGGAAGGGAAGTCTTAT 0.577000 59 25 0 0 0.003330 0 0 NCOA6 23054 broad.mit.edu 37 20 33328797 33328797 + Missense_Mutation SNP G A A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr20:33328797G>A uc002xav.3 - 11 7834 c.5263C>T c.(5263-5265)Cct>Tct p.P1755S NCOA6_uc002xaw.3_Missense_Mutation_p.P1755S|NCOA6_uc021wcd.1_Intron|NCOA6_uc021wce.1_Missense_Mutation_p.P1755S|NCOA6_uc021wcf.1_Intron NM_014071 NP_054790 Q14686 NCOA6_HUMAN Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA. 1755 EP300/CRSP3-binding region. DNA recombination|DNA repair|DNA replication|brain development|cellular lipid metabolic process|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 GGATGAGAAGGGACAACTGGA 0.527000 48 31 0 0 0.008361 0 0 SSH1 54434 broad.mit.edu 37 12 109181953 109181953 + Silent SNP G A A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr12:109181953G>A uc001tnm.3 - 14 3048 c.2961C>T c.(2959-2961)ttC>ttT p.F987F SSH1_uc001tnl.3_Silent_p.F675F NM_018984 NP_061857 Q8WYL5 SSH1_HUMAN Homo sapiens slingshot homolog 1 (Drosophila) (SSH1), transcript variant 1, mRNA. 987 Interaction with YWHAG. 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 CTTCCGTTGAGAAGGTGAGAC 0.602000 127 123 0 0 0.003610 0 0 KRT18 3875 broad.mit.edu 37 12 53344588 53344588 + Silent SNP C T T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr12:53344588C>T uc001sbe.3 + 3 624 c.555C>T c.(553-555)ctC>ctT p.L185L KRT18_uc009zmn.2_Silent_p.L185L|KRT18_uc001sbg.3_Silent_p.L185L|KRT8_uc009zml.1_5'Flank|KRT8_uc009zmm.1_5'Flank NM_199187 NP_954657 P05783 K1C18_HUMAN Homo sapiens keratin 18 (KRT18), transcript variant 2, mRNA. 185 Coil 1B.|Necessary for interaction with PNN.|Rod. Golgi to plasma membrane CFTR protein transport|anatomical structure morphogenesis|cell cycle|interspecies interaction between organisms|negative regulation of apoptosis centriolar satellite|keratin filament|perinuclear region of cytoplasm protein binding|structural molecule activity central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1) 11 TCCATGGGCTCCGCAAGGTCA 0.537000 11 9 0 0 0.008291 0 0 C1orf173 127254 broad.mit.edu 37 1 75072544 75072544 + Silent SNP C T T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr1:75072544C>T uc001dgg.3 - 9 1449 c.1230G>A c.(1228-1230)ccG>ccA p.P410P CR627203_uc001dgh.3_Intron|C1orf173_uc001dgi.4_Silent_p.P204P NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA. 410 p.P410P(2) 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 TCCTAGATTTCGGCAAAGACG 0.413000 44 53 0 0 0.003610 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A T T rs121913377 TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 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(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(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 23 62 0 0 0.003610 0 0 TMEM216 51259 broad.mit.edu 37 11 61161357 61161357 + Splice_Site SNP T G G TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr11:61161357T>G uc021qkf.1 + 3 409 c.137_splice c.e3-1 p.G46_splice TMEM216_uc010rlj.2_Splice_Site_p.G46_splice|TMEM216_uc001nrn.2_Splice_Site NM_001173991 NP_001167462 Q9P0N5 TM216_HUMAN Homo sapiens transmembrane protein 216 (TMEM216), transcript variant 3, mRNA. 39 integral to membrane p.G46G(3) endometrium(1)|large_intestine(2)|lung(1)|prostate(2) 6 TATTGGCAGGTGTCCTGCTAC 0.438000 35 12 0 0 0.010504 0 0 WDFY3 23001 broad.mit.edu 37 4 85617207 85617207 + Silent SNP T C C TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr4:85617207T>C uc003hpd.3 - 57 9225 c.8817A>G c.(8815-8817)caA>caG p.Q2939Q WDFY3_uc003hpe.1_Silent_p.Q550Q NM_014991 NP_055806 Q8IZQ1 WDFY3_HUMAN Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA. 2939 BEACH. cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) AGATATCCACTTGACCCTCAT 0.393000 58 14 0 0 0.001855 0 0 MXRA5 25878 broad.mit.edu 37 X 3240033 3240033 + Silent SNP C T T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chrX:3240033C>T uc004crg.4 - 4 3850 c.3693G>A c.(3691-3693)cgG>cgA p.R1231R NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA. 1231 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) CGTGTTTTCTCCGTGGTGTTC 0.488000 29 47 0 0 0.003610 0 0 ZNF217 7764 broad.mit.edu 37 20 52198662 52198662 + Missense_Mutation SNP C A A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr20:52198662C>A uc002xwq.4 - 0 1046 c.704G>T c.(703-705)cGc>cTc p.R235L ZNF217_uc010gij.1_Missense_Mutation_p.R227L NM_006526 NP_006517 O75362 ZN217_HUMAN Homo sapiens zinc finger protein 217 (ZNF217), mRNA. 235 negative regulation of transcription, DNA-dependent histone deacetylase complex protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding p.R235S(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398) BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198) GTGCACCTTGCGGTGCTCAAT 0.522000 92 84 1.86864e-30 1.97205e-30 0.003610 1 0 SNAP91 9892 broad.mit.edu 37 6 84375219 84375219 + Missense_Mutation SNP C T T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr6:84375219C>T uc021zcf.1 - 1 242 c.212G>A c.(211-213)aGc>aAc p.S71N SNAP91_uc003pka.3_Missense_Mutation_p.S71N|SNAP91_uc011dze.2_Missense_Mutation_p.S71N|SNAP91_uc003pkc.3_Missense_Mutation_p.S71N|SNAP91_uc003pkd.3_Missense_Mutation_p.S71N|SNAP91_uc003pkb.3_Missense_Mutation_p.S36N|SNAP91_uc011dzf.1_Intron NM_014841 NP_055656 O60641 AP180_HUMAN Homo sapiens synaptosomal-associated protein, 91kDa homolog (mouse) (SNAP91), transcript variant 1, mRNA. 71 ENTH. clathrin coat assembly clathrin coat|coated pit|plasma membrane 1-phosphatidylinositol binding|clathrin binding breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0967) AACCACCCAGCTACTGTTTGT 0.403000 76 33 0 0 0.009535 0 0 EPB41 2035 broad.mit.edu 37 1 29314233 29314233 + Missense_Mutation SNP C T T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr1:29314233C>T uc001brm.2 + 1 411 c.284C>T c.(283-285)tCc>tTc p.S95F EPB41_uc001brg.2_5'UTR|EPB41_uc001brh.2_5'UTR|EPB41_uc001brj.2_5'UTR|EPB41_uc001bri.2_Missense_Mutation_p.S95F|EPB41_uc009vtk.2_Missense_Mutation_p.S95F|EPB41_uc001brk.3_Missense_Mutation_p.S95F|EPB41_uc001brl.2_Missense_Mutation_p.S95F|EPB41_uc021okg.1_Missense_Mutation_p.S95F|EPB41_uc009vtm.2_5'UTR|EPB41_uc009vtl.2_5'UTR NM_001166005 NP_001159477 P11171 41_HUMAN Homo sapiens erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked) (EPB41), transcript variant 1, mRNA. 95 blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding Golgi apparatus|extrinsic to membrane|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton 1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1) 14 Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123) Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757) TCTCAGGTGTCCGAGGAAGAA 0.423000 60 64 0 0 0.003610 0 0 APOBEC3C 27350 broad.mit.edu 37 22 39411753 39411753 + Silent SNP C T T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr22:39411753C>T uc003awr.3 + 1 274 c.171C>T c.(169-171)aaC>aaT p.N57N NM_014508 NP_055323 Q9NRW3 ABC3C_HUMAN Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3C (APOBEC3C), mRNA. 57 DNA demethylation|interspecies interaction between organisms|negative regulation of transposition hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|protein binding|zinc ion binding endometrium(1)|large_intestine(3)|lung(1)|skin(1) 6 Melanoma(58;0.04) TCTTCCGAAACCAGGTAGCAC 0.527000 26 55 0 0 0.003610 0 0 COL22A1 169044 broad.mit.edu 37 8 139839024 139839024 + Splice_Site SNP C T T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr8:139839024C>T uc003yvd.3 - 6 1293 c.846_splice c.e6-1 p.E282_splice NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA. 282 TSP N-terminal. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) GGAACACATCCCTGGAGAAAA 0.522000 HNSCC(7;0.00092) 24 12 0 0 0.001855 0 0 LMCD1 29995 broad.mit.edu 37 3 8607123 8607123 + Silent SNP C T T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr3:8607123C>T uc003bqq.3 + 4 843 c.729C>T c.(727-729)tgC>tgT p.C243C LMCD1_uc011atd.2_Silent_p.C170C|LMCD1_uc011ate.2_Silent_p.C131C NM_014583 NP_055398 Q9NZU5 LMCD1_HUMAN Homo sapiens LIM and cysteine-rich domains 1 (LMCD1), mRNA. 243 LIM zinc-binding 1. positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent cytoplasm|extracellular space|nucleus transcription corepressor activity|zinc ion binding breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1) 16 OV - Ovarian serous cystadenocarcinoma(96;0.124) TCCAGGTCTGCGAGCTCTGCA 0.592000 165 31 0 0 0.002836 0 0 ZNFX1 57169 broad.mit.edu 37 20 47881379 47881379 + Silent SNP G A A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr20:47881379G>A uc002xui.3 - 4 2272 c.2025C>T c.(2023-2025)acC>acT p.T675T NM_021035 NP_066363 Q9P2E3 ZNFX1_HUMAN Homo sapiens zinc finger, NFX1-type containing 1 (ZNFX1), mRNA. 675 metal ion binding cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 60 BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) GCACAATGCTGGTCTTCTGAC 0.527000 72 84 0 0 0.003610 0 0 POLI 11201 broad.mit.edu 37 18 51820122 51820122 + Missense_Mutation SNP C T T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr18:51820122C>T uc002lfj.4 + 9 1576 c.1508C>T c.(1507-1509)cCa>cTa p.P503L POLI_uc010xds.2_Missense_Mutation_p.P424L|POLI_uc002lfk.4_Missense_Mutation_p.P400L|POLI_uc010dpg.3_Missense_Mutation_p.P99L NM_007195 NP_009126 Q9UNA4 POLI_HUMAN Homo sapiens polymerase (DNA directed) iota (POLI), mRNA. 503 DNA repair|DNA replication nucleoplasm DNA-directed DNA polymerase activity|damaged DNA binding|metal ion binding|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1) 26 Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197) AGGGAGTCTCCACTAGATACC 0.383000 DNA polymerases (catalytic subunits) 11 4 0 0 0.009096 0 0 GPR112 139378 broad.mit.edu 37 X 135426739 135426739 + Missense_Mutation SNP C T T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chrX:135426739C>T uc004ezu.1 + 5 1165 c.874C>T c.(874-876)Cca>Tca p.P292S GPR112_uc010nsb.1_Missense_Mutation_p.P87S|GPR112_uc010nsc.1_Missense_Mutation_p.P59S NM_153834 NP_722576 Q8IZF6 GP112_HUMAN Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA. 292 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) TACAACATCTCCACCTCTGGA 0.368000 51 36 0 0 0.005524 0 0 MTUS2 23281 broad.mit.edu 37 13 29599853 29599853 + Silent SNP C T T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr13:29599853C>T uc001usl.4 + 0 1106 c.1048C>T c.(1048-1050)Ctg>Ttg p.L350L NM_001033602 NP_001028774 Q5JR59 MTUS2_HUMAN Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA. 340 cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 GGAAGAGAATCTGTCAGCCTT 0.562000 32 20 0 0 0.008871 0 0 EFTUD2 9343 broad.mit.edu 37 17 42964082 42964082 + Missense_Mutation SNP G A A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr17:42964082G>A uc002ihn.2 - 2 403 c.142C>T c.(142-144)Cat>Tat p.H48Y EFTUD2_uc010wje.1_Missense_Mutation_p.H13Y|EFTUD2_uc010wjf.1_Missense_Mutation_p.H48Y NM_004247 NP_001136077 Q15029 U5S1_HUMAN Homo sapiens elongation factor Tu GTP binding domain containing 2 (EFTUD2), transcript variant 1, mRNA. 48 Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck GTP binding|GTPase activity|protein binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 32 Prostate(33;0.109) tcatcgtcatgatctcctacg 0.512000 25 16 0 0 0.004007 0 0 EMID2 136227 broad.mit.edu 37 7 101183258 101183258 + Missense_Mutation SNP G A A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr7:101183258G>A uc010lhy.1 + 4 718 c.526G>A c.(526-528)Gag>Aag p.E176K EMID2_uc003uyo.1_Missense_Mutation_p.E178K NM_133457 NP_597714 Q96A83 EMID2_HUMAN Homo sapiens EMI domain containing 2 (EMID2), mRNA. 178 collagen breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1) 18 Lung NSC(181;0.215) GACCTGGAATGAGGACTTCCT 0.662000 46 5 0 0 0.001168 0 0 KL 9365 broad.mit.edu 37 13 33638149 33638149 + Silent SNP C T T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr13:33638149C>T uc001uus.3 + 4 2873 c.2865C>T c.(2863-2865)ggC>ggT p.G955G NM_004795 NP_004786 Q9UEF7 KLOT_HUMAN Homo sapiens klotho (KL), mRNA. 955 aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding p.P954L(1) breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5) 41 all_epithelial(80;0.133) Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05) GTTTCCCGGGCCCAGAAACTC 0.443000 54 33 0 0 0.002445 0 0 LAIR1 3903 broad.mit.edu 37 19 54866989 54866989 + Missense_Mutation SNP T C C TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr19:54866989T>C uc002qfk.1 - 9 1062 c.752A>G c.(751-753)tAt>tGt p.Y251C LAIR1_uc002qfl.1_Missense_Mutation_p.Y234C|LAIR1_uc002qfm.1_Missense_Mutation_p.Y250C|LAIR1_uc002qfn.1_Missense_Mutation_p.Y233C|LAIR1_uc010yex.2_Missense_Mutation_p.Y244C|LAIR1_uc002qfo.3_Missense_Mutation_p.Y233C NM_002287 NP_002278 Q6GTX8 LAIR1_HUMAN Homo sapiens leukocyte-associated immunoglobulin-like receptor 1 (LAIR1), transcript variant a, mRNA. 251 integral to membrane|plasma membrane protein binding|receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3) 26 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0573) CAGCTGAGCATACGTCACCTC 0.652000 10 42 0 0 0.009718 0 0 CLIP4 79745 broad.mit.edu 37 2 29386787 29386787 + Missense_Mutation SNP A G G TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr2:29386787A>G uc002rmv.3 + 12 1864 c.1625A>G c.(1624-1626)tAt>tGt p.Y542C CLIP4_uc002rmu.3_Missense_Mutation_p.Y542C|CLIP4_uc002rmw.3_Non-coding_Transcript NM_024692 NP_078968 Q8N3C7 CLIP4_HUMAN Homo sapiens CAP-GLY domain containing linker protein family, member 4 (CLIP4), mRNA. 542 CAP-Gly 2. endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1) 26 Acute lymphoblastic leukemia(172;0.155) TCTCCAAGATATGGAATATTT 0.388000 48 22 0 0 0.001882 0 0 C10orf88 80007 broad.mit.edu 37 10 124697643 124697643 + Silent SNP C G G rs145904265 byFrequency TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr10:124697643C>G uc001lgw.2 - 4 906 c.681G>C c.(679-681)tcG>tcC p.S227S C10orf88_uc001lgx.2_Silent_p.S129S NM_024942 NP_079218 Q9H8K7 CJ088_HUMAN Homo sapiens chromosome 10 open reading frame 88 (C10orf88), mRNA. 227 breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1) 18 all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205) Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735) TGCCCAACACCGACTGAAGCT 0.368000 12 15 0 0 0.004990 0 0 EIF2D 1939 broad.mit.edu 37 1 206770466 206770467 + Nonsense_Mutation DNP CC TT TT TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr1:206770466_206770467CC>TT uc001heh.2 - 11 1580_1581 c.1371_1372GG>AA c.(1369-1374)tgggac>tgAAac p.457_458WD>*N EIF2D_uc009xbw.2_Nonsense_Mutation_p.333_334WD>*N NM_006893 NP_008824 P41214 EIF2D_HUMAN Homo sapiens eukaryotic translation initiation factor 2D (EIF2D), transcript variant 1, mRNA. 457 intracellular protein transport cytoplasm protein binding|receptor activity|translation initiation factor activity autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 23 AGAAGACTGTCCCATGGAAGCT 0.426000 8 15 0 0 0.004672 0 0 GUCY2C 2984 broad.mit.edu 37 12 14796584 14796584 + Silent SNP G A A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr12:14796584G>A uc001rcd.3 - 16 1991 c.1854C>T c.(1852-1854)acC>acT p.T618T NM_004963 NP_004954 P25092 GUC2C_HUMAN Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA. 618 Protein kinase. intracellular signal transduction|receptor guanylyl cyclase signaling pathway integral to membrane ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity p.T618A(1) breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1) 51 CTACGCAGTTGGTAGATTTCA 0.388000 57 51 0 0 0.003610 0 0 FGFRL1 53834 broad.mit.edu 37 4 1019055 1019056 + Frame_Shift_Del DEL CA - - TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr4:1019055_1019056delCA uc003gce.3 + 6 1596_1597 c.1435_1436delCA c.(1435-1437)cacfs p.H479fs FGFRL1_uc003gcf.3_Frame_Shift_Del_p.H479fs|FGFRL1_uc003gcg.3_Frame_Shift_Del_p.H479fs|FGFRL1_uc010ibo.3_Frame_Shift_Del_p.H479fs NM_021923 NP_068742 Q8N441 FGRL1_HUMAN Homo sapiens fibroblast growth factor receptor-like 1 (FGFRL1), transcript variant 3, mRNA. 479 His-rich. regulation of cell growth integral to membrane|plasma membrane fibroblast growth factor receptor activity|heparin binding endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 13 OV - Ovarian serous cystadenocarcinoma(23;0.0158) cacagacatccacacacacaca 0.584 --- 13 --- --- 6 --- GZMA 3001 broad.mit.edu 37 5 54405901 54405901 + Frame_Shift_Del DEL C - - TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr5:54405901delC uc003jpm.3 + 4 717 c.680delC c.(679-681)tccfs p.S227fs NM_006144 NP_006135 P12544 GRAA_HUMAN Homo sapiens granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3) (GZMA), mRNA. 227 Peptidase S1. cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis extracellular region|immunological synapse|nucleus protein homodimerization activity|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 25 Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183) GGGGTCACTTCCTTTGGCCTT 0.483 --- 59 --- --- 45 --- SHCBP1 79801 broad.mit.edu 37 16 46615932 46615933 + Frame_Shift_Del DEL CT - - TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr16:46615932_46615933delCT uc002eec.4 - 12 1767_1768 c.1727_1728delAG c.(1726-1728)gagfs p.E576fs NM_024745 NP_079021 Q8NEM2 SHCBP_HUMAN Homo sapiens SHC SH2-domain binding protein 1 (SHCBP1), mRNA. 576 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213) CCACATCTGGCTCTCCACTTGT 0.381 --- 122 --- --- 12 ---