Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample INADL 10207 broad.mit.edu 37 1 62456031 62456031 + Missense_Mutation SNP T T G TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2e3ac0f-09b3-4b5b-96a0-837dd9188192 40748368-1c04-420d-b21a-6a2a78ad0c6b g.chr1:62456031T>G ENST00000371158.2 + 28 3976 c.3862T>G c.(3862-3864)Tta>Gta p.L1288V INADL_ENST00000316485.6_Missense_Mutation_p.L1288V|INADL_ENST00000543708.1_Missense_Mutation_p.L72V|INADL_ENST00000545929.1_5'UTR NM_176877.2 NP_795352 Q8NI35 INADL_HUMAN InaD-like (Drosophila) 1288 PDZ 7. intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding p.L1288V(1) 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 AGATGAACTCTTAGAGGTGAG 0.443 8 54 --- --- --- --- MCOLN3 55283 broad.mit.edu 37 1 85510885 85510885 + Silent SNP G G A TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2e3ac0f-09b3-4b5b-96a0-837dd9188192 40748368-1c04-420d-b21a-6a2a78ad0c6b g.chr1:85510885G>A ENST00000370587.1 - 3 535 c.159C>T c.(157-159)ttC>ttT p.F53F WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000341115.4_Silent_p.F53F|MCOLN3_ENST00000370589.2_Silent_p.F53F Q8TDD5 MCLN3_HUMAN mucolipin 3 53 integral to membrane ion channel activity p.F53F(1) endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1) 34 all cancers(265;0.00957)|Epithelial(280;0.0254) CTCGAGCCCAGAACTTCTCAC 0.393 7 140 --- --- --- --- KCND3 3752 broad.mit.edu 37 1 112318709 112318709 + Missense_Mutation SNP G G C TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2e3ac0f-09b3-4b5b-96a0-837dd9188192 40748368-1c04-420d-b21a-6a2a78ad0c6b g.chr1:112318709G>C ENST00000369697.1 - 6 1970 c.1901C>G c.(1900-1902)tCc>tGc p.S634C KCND3_ENST00000302127.4_Missense_Mutation_p.S634C|KCND3_ENST00000315987.2_Missense_Mutation_p.S653C Q9UK17 KCND3_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 3 653 sarcolemma|voltage-gated potassium channel complex A-type (transient outward) potassium channel activity|metal ion binding p.S634C(1) NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 49 all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05) all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231) TTACAAGGCGGAGACCTTGAC 0.612 29 82 --- --- --- --- NOTCH2 4853 broad.mit.edu 37 1 120479922 120479922 + Missense_Mutation SNP C C T TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2e3ac0f-09b3-4b5b-96a0-837dd9188192 40748368-1c04-420d-b21a-6a2a78ad0c6b g.chr1:120479922C>T ENST00000256646.2 - 21 3724 c.3505G>A c.(3505-3507)Ggt>Agt p.G1169S NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 1169 EGF-like 30; calcium-binding (Potential). anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) CTGTATCCACCAATGAAGTCA 0.527 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 18 148 --- --- --- --- PIAS3 10401 broad.mit.edu 37 1 145580242 145580242 + Missense_Mutation SNP A A G TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2e3ac0f-09b3-4b5b-96a0-837dd9188192 40748368-1c04-420d-b21a-6a2a78ad0c6b g.chr1:145580242A>G ENST00000393045.2 + 6 814 c.724A>G c.(724-726)Atc>Gtc p.I242V PIAS3_ENST00000369299.3_Missense_Mutation_p.I233V|PIAS3_ENST00000369298.1_Missense_Mutation_p.I207V NM_006099.3 NP_006090.2 Q9Y6X2 PIAS3_HUMAN protein inhibitor of activated STAT, 3 242 PINIT. positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding p.I242V(2)|p.I233V(1) cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2) 28 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CAGCCGCCCCATCAACATCAC 0.587 14 205 --- --- --- --- FLG 2312 broad.mit.edu 37 1 152275293 152275293 + Silent SNP A A G TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2e3ac0f-09b3-4b5b-96a0-837dd9188192 40748368-1c04-420d-b21a-6a2a78ad0c6b g.chr1:152275293A>G ENST00000368799.1 - 3 12104 c.12069T>C c.(12067-12069)gaT>gaC p.D4023D FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 4023 keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity p.D4023D(1) autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ACCTTGGATGATCTTTACCAA 0.383 Ichthyosis 68 192 --- --- --- --- LY9 4063 broad.mit.edu 37 1 160783454 160783454 + Missense_Mutation SNP G G C TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2e3ac0f-09b3-4b5b-96a0-837dd9188192 40748368-1c04-420d-b21a-6a2a78ad0c6b g.chr1:160783454G>C ENST00000368037.5 + 3 597 c.483G>C c.(481-483)atG>atC p.M161I LY9_ENST00000368041.2_Missense_Mutation_p.M121I|LY9_ENST00000263285.6_Missense_Mutation_p.M161I|LY9_ENST00000471816.1_3'UTR|LY9_ENST00000368040.1_5'UTR|LY9_ENST00000392203.4_Missense_Mutation_p.M161I|LY9_ENST00000341032.4_Missense_Mutation_p.M161I NM_001261456.1|NM_002348.3 NP_001248385.1|NP_002339.2 Q9HBG7 LY9_HUMAN lymphocyte antigen 9 Ig-like C2-type 1. cell adhesion|immunoglobulin mediated immune response integral to membrane p.M161I(1) autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) AAGTCACCATGAAGTCTGTGA 0.532 10 114 --- --- --- --- CEP350 9857 broad.mit.edu 37 1 179989287 179989287 + Missense_Mutation SNP C C G TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2e3ac0f-09b3-4b5b-96a0-837dd9188192 40748368-1c04-420d-b21a-6a2a78ad0c6b g.chr1:179989287C>G ENST00000367607.3 + 12 2796 c.2378C>G c.(2377-2379)aCt>aGt p.T793S NM_014810.4 NP_055625.4 Q5VT06 CE350_HUMAN centrosomal protein 350kDa 793 centrosome|nucleus|spindle p.T793S(2) central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 66 AGGCCATTAACTTTTACACCT 0.378 63 131 --- --- --- --- HMCN1 83872 broad.mit.edu 37 1 186055463 186055463 + Silent SNP T T G TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2e3ac0f-09b3-4b5b-96a0-837dd9188192 40748368-1c04-420d-b21a-6a2a78ad0c6b g.chr1:186055463T>G ENST00000271588.4 + 58 9199 c.8970T>G c.(8968-8970)ggT>ggG p.G2990G HMCN1_ENST00000367492.2_Silent_p.G2990G NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 2990 Ig-like C2-type 28. response to stimulus|visual perception basement membrane calcium ion binding p.G2990G(1) NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 AGGTCTCTGGTTTTCCACCTC 0.408 27 114 --- --- --- --- CR1L 1379 broad.mit.edu 37 1 207818635 207818635 + Missense_Mutation SNP G G C TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2e3ac0f-09b3-4b5b-96a0-837dd9188192 40748368-1c04-420d-b21a-6a2a78ad0c6b g.chr1:207818635G>C ENST00000508064.2 + 1 117 c.57G>C c.(55-57)ttG>ttC p.L19F NM_175710.1 NP_783641.1 Q2VPA4 CR1L_HUMAN complement component (3b/4b) receptor 1-like 19 cytoplasm|extracellular region|membrane p.L19F(1) endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 TTCCTGGGTTGCTTCTGGCGG 0.667 3 80 --- --- --- --- ABCG5 64240 broad.mit.edu 37 2 44040309 44040309 + Silent SNP A A T TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2e3ac0f-09b3-4b5b-96a0-837dd9188192 40748368-1c04-420d-b21a-6a2a78ad0c6b g.chr2:44040309A>T ENST00000543989.1 - 9 2422 c.717T>A c.(715-717)ctT>ctA p.L239L ABCG5_ENST00000260645.1_Silent_p.L634L|ABCG5_ENST00000405322.1_Silent_p.L463L Q9H222 ABCG5_HUMAN ATP-binding cassette, sub-family G (WHITE), member 5 634 ABC transporter. cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity p.L634L(1) breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 33 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) CTAGGATGACAAGAGCTGGAA 0.403 26 60 --- --- --- --- GPR75 10936 broad.mit.edu 37 2 54081085 54081085 + Missense_Mutation SNP G G A TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2e3ac0f-09b3-4b5b-96a0-837dd9188192 40748368-1c04-420d-b21a-6a2a78ad0c6b g.chr2:54081085G>A ENST00000394705.2 - 2 1079 c.809C>T c.(808-810)gCt>gTt p.A270V ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron NM_006794.3 NP_006785.1 O95800 GPR75_HUMAN G protein-coupled receptor 75 270 integral to plasma membrane G-protein coupled receptor activity p.A270V(1) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 18 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) CCTATACAGAGCCGGCATGGC 0.557 3 80 --- --- --- --- RETSAT 54884 broad.mit.edu 37 2 85571797 85571797 + Missense_Mutation SNP G G C TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2e3ac0f-09b3-4b5b-96a0-837dd9188192 40748368-1c04-420d-b21a-6a2a78ad0c6b g.chr2:85571797G>C ENST00000295802.4 - 7 1288 c.1176C>G c.(1174-1176)atC>atG p.I392M RETSAT_ENST00000457495.2_Missense_Mutation_p.I331M|RETSAT_ENST00000475624.2_5'UTR|RETSAT_ENST00000263854.6_Missense_Mutation_p.I392M NM_017750.3 NP_060220.3 Q6NUM9 RETST_HUMAN retinol saturase (all-trans-retinol 13,14-reductase) 392 retinol metabolic process endoplasmic reticulum membrane|nuclear outer membrane all-trans-retinol 13,14-reductase activity|electron carrier activity p.I392M(1) NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 30 Vitamin A(DB00162) CTCGCAGGCAGATGAAAACAG 0.592 3 77 --- --- --- --- VWC2L 402117 broad.mit.edu 37 2 215278952 215278952 + Missense_Mutation SNP T T G TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2e3ac0f-09b3-4b5b-96a0-837dd9188192 40748368-1c04-420d-b21a-6a2a78ad0c6b g.chr2:215278952T>G ENST00000312504.5 + 2 837 c.35T>G c.(34-36)cTg>cGg p.L12R VWC2L_ENST00000427124.1_Missense_Mutation_p.L12R|AC107218.3_ENST00000437883.1_RNA|AC107218.3_ENST00000412896.1_RNA NM_001080500.2 NP_001073969.1 B2RUY7 VWC2L_HUMAN von Willebrand factor C domain containing protein 2-like 12 extracellular region p.L12R(1) breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1) 16 TGCATACTTCTGTTGGTCATC 0.433 9 107 --- --- --- --- BARD1 580 broad.mit.edu 37 2 215645851 215645851 + Silent SNP G G A TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2e3ac0f-09b3-4b5b-96a0-837dd9188192 40748368-1c04-420d-b21a-6a2a78ad0c6b g.chr2:215645851G>A ENST00000260947.4 - 4 881 c.747C>T c.(745-747)atC>atT p.I249I BARD1_ENST00000471787.1_5'UTR|BARD1_ENST00000449967.2_Silent_p.I105I NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1 NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1 Q99728 BARD1_HUMAN BRCA1 associated RING domain 1 249 cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding p.I249I(2) NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1) 35 Renal(323;0.0243) Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) GAGGACTGGAGATAACAGATG 0.383 Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 54 115 --- --- --- --- STK36 27148 broad.mit.edu 37 2 219538385 219538385 + Missense_Mutation SNP C C T TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2e3ac0f-09b3-4b5b-96a0-837dd9188192 40748368-1c04-420d-b21a-6a2a78ad0c6b g.chr2:219538385C>T ENST00000295709.3 + 3 401 c.122C>T c.(121-123)tCa>tTa p.S41L STK36_ENST00000392105.3_Missense_Mutation_p.S41L|STK36_ENST00000392106.2_Missense_Mutation_p.S41L|STK36_ENST00000440309.1_Missense_Mutation_p.S41L NM_015690.4 NP_056505.2 Q9NRP7 STK36_HUMAN serine/threonine kinase 36 41 Protein kinase. cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus ATP binding|protein serine/threonine kinase activity|transcription factor binding p.S41L(2) biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 52 Renal(207;0.0915) Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984) TTGGGGCGCTCAGAGAAGGAG 0.448 20 39 --- --- --- --- LRRC3B 116135 broad.mit.edu 37 3 26751543 26751543 + Missense_Mutation SNP G G C TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2e3ac0f-09b3-4b5b-96a0-837dd9188192 40748368-1c04-420d-b21a-6a2a78ad0c6b g.chr3:26751543G>C ENST00000396641.2 + 2 972 c.380G>C c.(379-381)aGt>aCt p.S127T LRRC3B_ENST00000417744.1_Missense_Mutation_p.S127T|LRRC3B_ENST00000456208.2_Missense_Mutation_p.S127T NM_052953.2 NP_443185.1 Q96PB8 LRC3B_HUMAN leucine rich repeat containing 3B 127 integral to membrane p.S127T(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4) 21 CGGATTCAAAGTGTGCACAAA 0.478 25 43 --- --- --- --- XIRP1 165904 broad.mit.edu 37 3 39226607 39226607 + Missense_Mutation SNP G G T TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2e3ac0f-09b3-4b5b-96a0-837dd9188192 40748368-1c04-420d-b21a-6a2a78ad0c6b g.chr3:39226607G>T ENST00000340369.3 - 2 4558 c.4330C>A c.(4330-4332)Ccc>Acc p.P1444T XIRP1_ENST00000421646.1_Missense_Mutation_p.P127T|XIRP1_ENST00000396251.1_3'UTR NM_194293.2 NP_919269.2 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 1444 actin binding p.P1444T(1) breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) TCTCCTGAGGGGCCGGGGCCC 0.612 34 112 --- --- --- --- CCR9 10803 broad.mit.edu 37 3 45942586 45942586 + Silent SNP C C T TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2e3ac0f-09b3-4b5b-96a0-837dd9188192 40748368-1c04-420d-b21a-6a2a78ad0c6b g.chr3:45942586C>T ENST00000357632.2 + 3 486 c.306C>T c.(304-306)ccC>ccT p.P102P CCR9_ENST00000355983.2_Silent_p.P90P|CCR9_ENST00000422395.1_3'UTR|LZTFL1_ENST00000536047.1_Intron|CCR9_ENST00000395963.2_Silent_p.P90P|LZTFL1_ENST00000539217.1_Intron NM_001256369.1|NM_031200.2 NP_001243298.1|NP_112477.1 P51686 CCR9_HUMAN chemokine (C-C motif) receptor 9 102 cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|immune response integral to plasma membrane p.P102P(1) breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1) 20 BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214) TCACTCTTCCCTTCTGGGCCA 0.473 8 396 --- --- --- --- EIF4G1 1981 broad.mit.edu 37 3 184040943 184040943 + Missense_Mutation SNP C C G TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2e3ac0f-09b3-4b5b-96a0-837dd9188192 40748368-1c04-420d-b21a-6a2a78ad0c6b g.chr3:184040943C>G ENST00000342981.4 + 13 2416 c.2002C>G c.(2002-2004)Cca>Gca p.P668A EIF4G1_ENST00000427845.1_Missense_Mutation_p.P581A|EIF4G1_ENST00000392537.2_Missense_Mutation_p.P581A|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000352767.3_Missense_Mutation_p.P675A|EIF4G1_ENST00000382330.3_Missense_Mutation_p.P675A|EIF4G1_ENST00000346169.2_Missense_Mutation_p.P668A|EIF4G1_ENST00000319274.6_Missense_Mutation_p.P668A|EIF4G1_ENST00000441154.1_Missense_Mutation_p.P504A|EIF4G1_ENST00000434061.2_Missense_Mutation_p.P472A|EIF4G1_ENST00000424196.1_Missense_Mutation_p.P675A|EIF4G1_ENST00000435046.2_Missense_Mutation_p.P472A|EIF4G1_ENST00000414031.1_Missense_Mutation_p.P628A|EIF4G1_ENST00000411531.1_Missense_Mutation_p.P628A|EIF4G1_ENST00000350481.5_Missense_Mutation_p.P504A NM_182917.4 NP_886553 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 gamma, 1 668 MIF4G. insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity p.P668A(1) central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 75 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) AGACTTCACTCCATCCTTTGC 0.607 5 190 --- --- --- --- DNAJB11 51726 broad.mit.edu 37 3 186302301 186302301 + Missense_Mutation SNP A A G TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2e3ac0f-09b3-4b5b-96a0-837dd9188192 40748368-1c04-420d-b21a-6a2a78ad0c6b g.chr3:186302301A>G ENST00000439351.1 + 10 1864 c.935A>G c.(934-936)aAc>aGc p.N312S DNAJB11_ENST00000265028.3_Missense_Mutation_p.N312S Q9UBS4 DJB11_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 11 312 protein folding endoplasmic reticulum lumen heat shock protein binding p.N312S(1) breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2) 15 all_cancers(143;2.84e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.44e-20) GBM - Glioblastoma multiforme(93;0.0476) TTTGACAACAACAATATCAAG 0.433 25 39 --- --- --- --- PPEF2 5470 broad.mit.edu 37 4 76813115 76813115 + Silent SNP G G A TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2e3ac0f-09b3-4b5b-96a0-837dd9188192 40748368-1c04-420d-b21a-6a2a78ad0c6b g.chr4:76813115G>A ENST00000286719.7 - 3 428 c.72C>T c.(70-72)gcC>gcT p.A24A PPEF2_ENST00000510607.1_5'UTR NM_006239.2 NP_006230.2 O14830 PPE2_HUMAN protein phosphatase, EF-hand calcium binding domain 2 24 IQ. detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception cytoplasm|photoreceptor inner segment|photoreceptor outer segment calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity p.A24A(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) TCTGGATCAGGGCTGCTGCCT 0.607 19 69 --- --- --- --- GHR 2690 broad.mit.edu 37 5 42718930 42718930 + Missense_Mutation SNP C C A TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2e3ac0f-09b3-4b5b-96a0-837dd9188192 40748368-1c04-420d-b21a-6a2a78ad0c6b g.chr5:42718930C>A ENST00000230882.4 + 10 1511 c.1321C>A c.(1321-1323)Cct>Act p.P441T GHR_ENST00000357703.3_Missense_Mutation_p.P419T|GHR_ENST00000537449.1_Missense_Mutation_p.P254T NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2 NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1 P10912 GHR_HUMAN growth hormone receptor 441 2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding p.P441T(1) NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Myeloproliferative disorder(839;0.00878) Pegvisomant(DB00082)|Somatropin recombinant(DB00052) TGATGCTTGCCCTGCTACTCA 0.463 4 83 --- --- --- --- CHSY3 337876 broad.mit.edu 37 5 129520761 129520761 + Silent SNP A A G TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2e3ac0f-09b3-4b5b-96a0-837dd9188192 40748368-1c04-420d-b21a-6a2a78ad0c6b g.chr5:129520761A>G ENST00000305031.4 + 3 2284 c.1926A>G c.(1924-1926)gaA>gaG p.E642E NM_175856.4 NP_787052.3 Q70JA7 CHSS3_HUMAN chondroitin sulfate synthase 3 642 Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity p.E642E(1) central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1) 28 all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.136) AGAACTTTGAAAACATGTGTC 0.403 3 161 --- --- --- --- PCDHA12 56137 broad.mit.edu 37 5 140255276 140255276 + Missense_Mutation SNP C C A TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2e3ac0f-09b3-4b5b-96a0-837dd9188192 40748368-1c04-420d-b21a-6a2a78ad0c6b g.chr5:140255276C>A ENST00000398631.2 + 1 219 c.219C>A c.(217-219)gaC>gaA p.D73E PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron NM_018903.2|NM_031864.2 NP_061726.1|NP_114070.1 p.D73E(1) NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GACACGGGGACCTTCTGGAGG 0.622 59 134 --- --- --- --- LARP1 23367 broad.mit.edu 37 5 154182914 154182914 + Missense_Mutation SNP C C A TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2e3ac0f-09b3-4b5b-96a0-837dd9188192 40748368-1c04-420d-b21a-6a2a78ad0c6b g.chr5:154182914C>A ENST00000336314.4 + 12 1967 c.1943C>A c.(1942-1944)cCt>cAt p.P648H NM_015315.3 NP_056130.2 Q6PKG0 LARP1_HUMAN La ribonucleoprotein domain family, member 1 725 protein binding|RNA binding p.P725H(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 33 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) ACACTGACCCCTGAGCCCCCT 0.532 3 59 --- --- --- --- CRISP2 7180 broad.mit.edu 37 6 49666128 49666128 + Missense_Mutation SNP C C G TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2e3ac0f-09b3-4b5b-96a0-837dd9188192 40748368-1c04-420d-b21a-6a2a78ad0c6b g.chr6:49666128C>G ENST00000339139.4 - 7 600 c.364G>C c.(364-366)Gtc>Ctc p.V122L NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3 NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1 P16562 CRIS2_HUMAN cysteine-rich secretory protein 2 122 extracellular space p.V122L(1) kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 19 Lung NSC(77;0.0161) KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156) ACACCATAGACAAAATCTAGG 0.413 4 182 --- --- --- --- MOXD1 26002 broad.mit.edu 37 6 132695782 132695782 + Missense_Mutation SNP G G T TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2e3ac0f-09b3-4b5b-96a0-837dd9188192 40748368-1c04-420d-b21a-6a2a78ad0c6b g.chr6:132695782G>T ENST00000367963.3 - 2 517 c.399C>A c.(397-399)gaC>gaA p.D133E MOXD1_ENST00000336749.3_Missense_Mutation_p.D65E NM_015529.2 NP_056344.2 Q6UVY6 MOXD1_HUMAN monooxygenase, DBH-like 1 133 DOMON. catecholamine metabolic process endoplasmic reticulum membrane|integral to membrane copper ion binding|dopamine beta-monooxygenase activity p.D65E(1)|p.D133E(1) breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1) 37 Breast(56;0.0495) OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191) TTATACTCTTGTCATTTATGT 0.343 61 156 --- --- --- --- SYNE1 23345 broad.mit.edu 37 6 152647137 152647137 + Missense_Mutation SNP T T A TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2e3ac0f-09b3-4b5b-96a0-837dd9188192 40748368-1c04-420d-b21a-6a2a78ad0c6b g.chr6:152647137T>A ENST00000367255.5 - 80 15995 c.15394A>T c.(15394-15396)Act>Tct p.T5132S SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000448038.1_Missense_Mutation_p.T5061S|SYNE1_ENST00000265368.4_Missense_Mutation_p.T5132S|SYNE1_ENST00000423061.1_Missense_Mutation_p.T5061S NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 5132 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding p.T5132S(3) NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CTAGACGAAGTCTTCAACAAA 0.348 HNSCC(10;0.0054) 46 79 --- --- --- --- ABCA13 154664 broad.mit.edu 37 7 48318294 48318294 + Silent SNP T T C TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2e3ac0f-09b3-4b5b-96a0-837dd9188192 40748368-1c04-420d-b21a-6a2a78ad0c6b g.chr7:48318294T>C ENST00000435803.1 + 18 7527 c.7503T>C c.(7501-7503)acT>acC p.T2501T NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 2501 transport integral to membrane ATP binding|ATPase activity p.T2501T(2)|p.T2446T(1) breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 TGTCTGGGACTCTGGTCATGC 0.428 29 378 --- --- --- --- TRIM74 378108 broad.mit.edu 37 7 72430608 72430608 + Missense_Mutation SNP G G T TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2e3ac0f-09b3-4b5b-96a0-837dd9188192 40748368-1c04-420d-b21a-6a2a78ad0c6b g.chr7:72430608G>T ENST00000285805.3 - 4 869 c.670C>A c.(670-672)Caa>Aaa p.Q224K TRIM74_ENST00000395244.1_Missense_Mutation_p.Q224K NM_198853.1 NP_942150.1 Q86UV6 TRI74_HUMAN tripartite motif containing 74 224 intracellular zinc ion binding p.Q224K(1) prostate(1) 1 CACTCGGCTTGGGCCAGCCGC 0.672 5 80 --- --- --- --- BET1 10282 broad.mit.edu 37 7 93633528 93633528 + Translation_Start_Site SNP T T A TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2e3ac0f-09b3-4b5b-96a0-837dd9188192 40748368-1c04-420d-b21a-6a2a78ad0c6b g.chr7:93633528T>A ENST00000222547.3 - 1 159 c.1A>T c.(1-3)Atg>Ttg p.M1L AC006378.2_ENST00000426634.1_RNA|BET1_ENST00000425626.1_Start_Codon_SNP_p.M1L|BET1_ENST00000433727.1_Start_Codon_SNP_p.M1L NM_005868.4 NP_005859.1 O15155 BET1_HUMAN Bet1 golgi vesicular membrane trafficking protein 1 ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|Golgi membrane|integral to membrane protein binding p.M1L(1) large_intestine(2)|lung(1)|prostate(1)|skin(1) 5 all_cancers(62;2.22e-10)|all_epithelial(64;1.38e-09)|Lung NSC(181;0.218) Breast(660;0.000162)|Ovarian(593;0.000626) STAD - Stomach adenocarcinoma(171;0.000967) GCACGCCTCATCCTGCCAGAG 0.632 37 76 --- --- --- --- PEG10 23089 broad.mit.edu 37 7 94293408 94293408 + Silent SNP T T C TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2e3ac0f-09b3-4b5b-96a0-837dd9188192 40748368-1c04-420d-b21a-6a2a78ad0c6b g.chr7:94293408T>C ENST00000482108.1 + 2 1019 c.540T>C c.(538-540)tcT>tcC p.S180S PEG10_ENST00000488574.1_Silent_p.S180S NM_001040152.1|NM_001172438.1|NM_001184962.1 NP_001035242.1|NP_001165909.1|NP_001171891.1 Q86TG7 PEG10_HUMAN paternally expressed 10 180 Necessary for interaction with ALK1. apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway cytoplasm|nucleus DNA binding|protein binding|zinc ion binding p.S180S(1) NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1) 21 all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215) STAD - Stomach adenocarcinoma(171;0.0031) GCATGGGGTCTGTCATCGACT 0.547 25 271 --- --- --- --- RINT1 60561 broad.mit.edu 37 7 105190573 105190573 + Missense_Mutation SNP G G C TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2e3ac0f-09b3-4b5b-96a0-837dd9188192 40748368-1c04-420d-b21a-6a2a78ad0c6b g.chr7:105190573G>C ENST00000257700.2 + 8 1299 c.1068G>C c.(1066-1068)caG>caC p.Q356H NM_021930.4 NP_068749.3 Q6NUQ1 RINT1_HUMAN RAD50 interactor 1 356 RINT1/TIP20. cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport endoplasmic reticulum membrane protein binding p.Q356H(1) central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 AGAAGATTCAGCCAATATTAG 0.378 8 117 --- --- --- --- DPP6 1804 broad.mit.edu 37 7 154667617 154667617 + Splice_Site SNP G G A TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2e3ac0f-09b3-4b5b-96a0-837dd9188192 40748368-1c04-420d-b21a-6a2a78ad0c6b g.chr7:154667617G>A ENST00000404039.1 + 20 2280 c.1693G>A c.(1693-1695)Gat>Aat p.D565N DPP6_ENST00000377770.3_Splice_Site_p.D629N|DPP6_ENST00000332007.3_Splice_Site_p.D567N|DPP6_ENST00000427557.1_Splice_Site_p.D522N NM_001039350.1|NM_001936.3|NM_130797.2 NP_001034439.1|NP_001927.3|NP_570629.2 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 629 cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity p.D629N(1)|p.D565N(1) NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 71 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) TCTTTCCAGGGATGGCACCCC 0.632 5 13 --- --- --- --- MTMR7 9108 broad.mit.edu 37 8 17169089 17169089 + Silent SNP C C T TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2e3ac0f-09b3-4b5b-96a0-837dd9188192 40748368-1c04-420d-b21a-6a2a78ad0c6b g.chr8:17169089C>T ENST00000180173.5 - 9 1066 c.1032G>A c.(1030-1032)agG>agA p.R344R MTMR7_ENST00000521857.1_Silent_p.R344R|MTMR7_ENST00000398099.3_5'UTR NM_004686.4 NP_004677.3 Q9Y216 MTMR7_HUMAN myotubularin related protein 7 344 Myotubularin phosphatase.|Substrate binding (By similarity). protein tyrosine phosphatase activity p.R344R(1) breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 32 Colorectal(111;0.112) CCTGAGCGGTCCTGTCCCAGC 0.567 37 203 --- --- --- --- EBF2 64641 broad.mit.edu 37 8 25745379 25745379 + Silent SNP C C A TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2e3ac0f-09b3-4b5b-96a0-837dd9188192 40748368-1c04-420d-b21a-6a2a78ad0c6b g.chr8:25745379C>A ENST00000520164.1 - 9 1398 c.861G>T c.(859-861)ggG>ggT p.G287G EBF2_ENST00000535548.1_Silent_p.G18G|EBF2_ENST00000408929.3_Silent_p.G139G NM_022659.3 NP_073150.2 Q9HAK2 COE2_HUMAN early B-cell factor 2 287 IPT/TIG. multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding p.G287G(2) endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 39 all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845) UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738) CAAGCATAGTCCCAAACACCA 0.488 35 67 --- --- --- --- PRKDC 5591 broad.mit.edu 37 8 48769758 48769758 + Missense_Mutation SNP C C A TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2e3ac0f-09b3-4b5b-96a0-837dd9188192 40748368-1c04-420d-b21a-6a2a78ad0c6b g.chr8:48769758C>A ENST00000314191.2 - 50 6621 c.6565G>T c.(6565-6567)Gtg>Ttg p.V2189L PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.V2189L NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 2190 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding p.V2189L(1)|p.V2190L(1) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) ATAGTGGCCACTATCTCAACC 0.458 Non-homologous end-joining 5 24 --- --- --- --- ESRP1 54845 broad.mit.edu 37 8 95676990 95676990 + Nonsense_Mutation SNP C C G TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2e3ac0f-09b3-4b5b-96a0-837dd9188192 40748368-1c04-420d-b21a-6a2a78ad0c6b g.chr8:95676990C>G ENST00000433389.2 + 7 900 c.710C>G c.(709-711)tCa>tGa p.S237* ESRP1_ENST00000423620.2_Nonsense_Mutation_p.S237*|ESRP1_ENST00000454170.2_Nonsense_Mutation_p.S237*|ESRP1_ENST00000358397.5_Nonsense_Mutation_p.S237* NM_001034915.2|NM_017697.3 NP_001030087.2|NP_060167.2 Q6NXG1 ESRP1_HUMAN epithelial splicing regulatory protein 1 237 RRM 1. mRNA processing|regulation of RNA splicing|RNA splicing nucleus|plasma membrane mRNA binding|nucleotide binding p.S237*(2) ESRP1/RAF1(4) NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2) 20 TGGCAGTCTTCAGATCAAGAT 0.373 32 96 --- --- --- --- DCSTAMP 81501 broad.mit.edu 37 8 105361522 105361522 + Missense_Mutation SNP A A G TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2e3ac0f-09b3-4b5b-96a0-837dd9188192 40748368-1c04-420d-b21a-6a2a78ad0c6b g.chr8:105361522A>G ENST00000297581.2 + 2 791 c.742A>G c.(742-744)Acc>Gcc p.T248A DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Missense_Mutation_p.T248A NM_030788.3 NP_110415.1 Q9H295 TM7S4_HUMAN dendrocyte expressed seven transmembrane protein 248 osteoclast differentiation cell surface|integral to membrane|plasma membrane p.T248A(1) CATCTACATCACCAGACAATT 0.488 11 172 --- --- --- --- ASAP1 50807 broad.mit.edu 37 8 131249205 131249205 + Silent SNP C C G TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2e3ac0f-09b3-4b5b-96a0-837dd9188192 40748368-1c04-420d-b21a-6a2a78ad0c6b g.chr8:131249205C>G ENST00000357668.1 - 3 249 c.222G>C c.(220-222)gtG>gtC p.V74V ASAP1_ENST00000518721.1_Silent_p.V74V Q9ULH1 ASAP1_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 74 cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction cytoplasm|membrane ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding p.V74V(1) breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 68 CAGACTTCTTCACTTTCTGAA 0.294 20 67 --- --- --- --- LRRC14 9684 broad.mit.edu 37 8 145746456 145746456 + Missense_Mutation SNP T T G TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2e3ac0f-09b3-4b5b-96a0-837dd9188192 40748368-1c04-420d-b21a-6a2a78ad0c6b g.chr8:145746456T>G ENST00000292524.1 + 4 1222 c.1076T>G c.(1075-1077)cTg>cGg p.L359R LRRC14_ENST00000529022.1_Missense_Mutation_p.L359R NM_001272036.1|NM_014665.2 NP_001258965.1|NP_055480.1 Q15048 LRC14_HUMAN leucine rich repeat containing 14 359 p.L359R(1) endometrium(1)|lung(3)|prostate(1) 5 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) TTCCAGGGTCTGTTGCAGGCA 0.597 21 46 --- --- --- --- TLN1 7094 broad.mit.edu 37 9 35711265 35711265 + Missense_Mutation SNP C C A TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2e3ac0f-09b3-4b5b-96a0-837dd9188192 40748368-1c04-420d-b21a-6a2a78ad0c6b g.chr9:35711265C>A ENST00000314888.9 - 30 4359 c.4006G>T c.(4006-4008)Gct>Tct p.A1336S TLN1_ENST00000540444.1_Missense_Mutation_p.A1336S NM_006289.3 NP_006280.3 Q9Y490 TLN1_HUMAN talin 1 1336 Interaction with SYNM. axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding p.A1336S(2) NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6) 85 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) GCAGCTGCAGCCAGCTGACTC 0.557 4 65 --- --- --- --- SPATA31C1 441452 broad.mit.edu 37 9 90535282 90535282 + RNA SNP A A G TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2e3ac0f-09b3-4b5b-96a0-837dd9188192 40748368-1c04-420d-b21a-6a2a78ad0c6b g.chr9:90535282A>G ENST00000602681.1 + 0 1186 TCATGAGCCTATGGAAGATGC 0.582 4 226 --- --- --- --- OR1J1 347168 broad.mit.edu 37 9 125239347 125239347 + Missense_Mutation SNP G G T TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2e3ac0f-09b3-4b5b-96a0-837dd9188192 40748368-1c04-420d-b21a-6a2a78ad0c6b g.chr9:125239347G>T ENST00000259357.2 - 1 888 c.859C>A c.(859-861)Cca>Aca p.P287T NM_001004451.1 NP_001004451.1 Q8NGS3 OR1J1_HUMAN olfactory receptor, family 1, subfamily J, member 1 287 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P287T(1) endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 16 TAAATGAATGGGTTCAACATG 0.418 63 151 --- --- --- --- PFKP 5214 broad.mit.edu 37 10 3176719 3176719 + Missense_Mutation SNP C C G TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2e3ac0f-09b3-4b5b-96a0-837dd9188192 40748368-1c04-420d-b21a-6a2a78ad0c6b g.chr10:3176719C>G ENST00000381075.2 + 22 2267 c.2043C>G c.(2041-2043)atC>atG p.I681M PFKP_ENST00000381072.1_Missense_Mutation_p.I107M|PFKP_ENST00000381125.4_Missense_Mutation_p.I689M NM_001242339.1 NP_001229268.1 Q01813 K6PP_HUMAN phosphofructokinase, platelet 689 glycolysis 6-phosphofructokinase complex 6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding p.I689M(2)|p.I681M(1) breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142) GAACCAAAATCTCTGCCAGAG 0.512 82 212 --- --- --- --- OR52D1 390066 broad.mit.edu 37 11 5510672 5510672 + Missense_Mutation SNP T T G TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2e3ac0f-09b3-4b5b-96a0-837dd9188192 40748368-1c04-420d-b21a-6a2a78ad0c6b g.chr11:5510672T>G ENST00000322641.5 + 1 758 c.736T>G c.(736-738)Tcc>Gcc p.S246A AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron NM_001005163.2 NP_001005163.1 Q9H346 O52D1_HUMAN olfactory receptor, family 52, subfamily D, member 1 246 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S246A(1) central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 22 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TACCTGTGGCTCCCACATTGG 0.498 7 184 --- --- --- --- UBQLNL 143630 broad.mit.edu 37 11 5537038 5537038 + Missense_Mutation SNP A A T TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2e3ac0f-09b3-4b5b-96a0-837dd9188192 40748368-1c04-420d-b21a-6a2a78ad0c6b g.chr11:5537038A>T ENST00000380184.1 - 1 897 c.634T>A c.(634-636)Tcc>Acc p.S212T HBG2_ENST00000380259.2_Intron NM_145053.4 NP_659490.4 Q8IYU4 UBQLN_HUMAN ubiquilin-like 212 p.S212T(1) endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 33 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136) AGAAGGCGGGAAACTTCTGGG 0.468 9 287 --- --- --- --- MRGPRX1 259249 broad.mit.edu 37 11 18955603 18955603 + Missense_Mutation SNP G G T TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2e3ac0f-09b3-4b5b-96a0-837dd9188192 40748368-1c04-420d-b21a-6a2a78ad0c6b g.chr11:18955603G>T ENST00000302797.3 - 1 953 c.729C>A c.(727-729)caC>caA p.H243Q NM_147199.3 NP_671732.3 Q96LB2 MRGX1_HUMAN MAS-related GPR, member X1 243 acute-phase response integral to membrane|plasma membrane G-protein coupled receptor activity p.H243Q(1) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 CCCTGTCCACGTGGATCCATA 0.478 12 126 --- --- --- --- ATG13 9776 broad.mit.edu 37 11 46670720 46670720 + Missense_Mutation SNP G G A TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2e3ac0f-09b3-4b5b-96a0-837dd9188192 40748368-1c04-420d-b21a-6a2a78ad0c6b g.chr11:46670720G>A ENST00000434074.1 + 5 993 c.304G>A c.(304-306)Gaa>Aaa p.E102K ATG13_ENST00000530500.1_Missense_Mutation_p.E23K|ATG13_ENST00000526508.1_Missense_Mutation_p.E102K|ATG13_ENST00000529655.1_Missense_Mutation_p.E102K|ATG13_ENST00000312040.4_Missense_Mutation_p.E102K|ATG13_ENST00000524625.1_Missense_Mutation_p.E102K|ATG13_ENST00000528494.1_Missense_Mutation_p.E102K|ATG13_ENST00000359513.4_Missense_Mutation_p.E102K|ATG13_ENST00000451945.1_Missense_Mutation_p.E102K NM_001205120.1 NP_001192049.1 O75143 ATG13_HUMAN autophagy related 13 102 autophagic vacuole assembly cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex protein binding p.E102K(2) NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1) 15 ATGGTGTCTTGAAATGAATGA 0.353 37 88 --- --- --- --- TENM4 26011 broad.mit.edu 37 11 78516453 78516453 + Missense_Mutation SNP T T A TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2e3ac0f-09b3-4b5b-96a0-837dd9188192 40748368-1c04-420d-b21a-6a2a78ad0c6b g.chr11:78516453T>A ENST00000278550.7 - 15 2525 c.2063A>T c.(2062-2064)aAc>aTc p.N688I NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 p.N688I(2) GGTCTCGCAGTTGGTGCCTCC 0.617 4 9 --- --- --- --- KIAA1551 55196 broad.mit.edu 37 12 32135815 32135815 + Silent SNP C C T TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2e3ac0f-09b3-4b5b-96a0-837dd9188192 40748368-1c04-420d-b21a-6a2a78ad0c6b g.chr12:32135815C>T ENST00000312561.4 + 4 2340 c.1926C>T c.(1924-1926)ggC>ggT p.G642G KIAA1551_ENST00000535596.1_Intron NM_018169.3 NP_060639 KIAA1551 p.G642G(1) ATGTAAGTGGCAGGGTTTTGG 0.413 30 47 --- --- --- --- SLC38A2 54407 broad.mit.edu 37 12 46757763 46757763 + Silent SNP C C G TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2e3ac0f-09b3-4b5b-96a0-837dd9188192 40748368-1c04-420d-b21a-6a2a78ad0c6b g.chr12:46757763C>G ENST00000256689.5 - 11 1341 c.897G>C c.(895-897)ctG>ctC p.L299L SLC38A2_ENST00000551374.1_Silent_p.L137L NM_018976.4 NP_061849.2 Q96QD8 S38A2_HUMAN solute carrier family 38, member 2 299 cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport integral to membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity p.L299L(1) cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 18 Lung SC(27;0.192)|Renal(347;0.236) OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374) GBM - Glioblastoma multiforme(48;0.226) ATGAAAAGATCAGAATTGGCA 0.328 14 30 --- --- --- --- KCTD10 83892 broad.mit.edu 37 12 109898479 109898479 + Missense_Mutation SNP C C G TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2e3ac0f-09b3-4b5b-96a0-837dd9188192 40748368-1c04-420d-b21a-6a2a78ad0c6b g.chr12:109898479C>G ENST00000228495.6 - 3 630 c.349G>C c.(349-351)Gtc>Ctc p.V117L KCTD10_ENST00000538161.1_5'UTR|KCTD10_ENST00000424763.2_Intron|KCTD10_ENST00000540411.1_Missense_Mutation_p.V114L NM_031954.3 NP_114160.1 Q9H3F6 BACD3_HUMAN potassium channel tetramerization domain containing 10 117 proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination Cul3-RING ubiquitin ligase complex|cytoplasm|nucleus|voltage-gated potassium channel complex voltage-gated potassium channel activity p.V117L(1) endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1) 10 AGGCCTTGGACTAGGTAGTAC 0.577 28 140 --- --- --- --- ACAD10 80724 broad.mit.edu 37 12 112153696 112153696 + Missense_Mutation SNP G G A TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2e3ac0f-09b3-4b5b-96a0-837dd9188192 40748368-1c04-420d-b21a-6a2a78ad0c6b g.chr12:112153696G>A ENST00000455480.2 + 8 1192 c.1015G>A c.(1015-1017)Gat>Aat p.D339N ACAD10_ENST00000313698.4_Missense_Mutation_p.D308N|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000392636.2_5'UTR|ACAD10_ENST00000549590.1_Missense_Mutation_p.D308N NM_001136538.1 NP_001130010.1 Q6JQN1 ACD10_HUMAN acyl-CoA dehydrogenase family, member 10 308 acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups p.D308N(1) NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5) 47 GGCTAATCGTGATCTAGTTCT 0.488 29 387 --- --- --- --- SACS 26278 broad.mit.edu 37 13 23909862 23909862 + Missense_Mutation SNP G G C TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2e3ac0f-09b3-4b5b-96a0-837dd9188192 40748368-1c04-420d-b21a-6a2a78ad0c6b g.chr13:23909862G>C ENST00000382298.3 - 10 8741 c.8153C>G c.(8152-8154)gCa>gGa p.A2718G SACS_ENST00000382292.3_Missense_Mutation_p.A2718G|SACS_ENST00000402364.1_Missense_Mutation_p.A1968G NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 2718 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding p.A2571G(1) NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) TCTGTCTGATGCTGGAACAGA 0.378 55 128 --- --- --- --- RCBTB1 55213 broad.mit.edu 37 13 50123715 50123715 + Silent SNP G G A TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2e3ac0f-09b3-4b5b-96a0-837dd9188192 40748368-1c04-420d-b21a-6a2a78ad0c6b g.chr13:50123715G>A ENST00000378302.2 - 9 1184 c.924C>T c.(922-924)taC>taT p.Y308Y RCBTB1_ENST00000258646.3_Silent_p.Y308Y|RCBTB1_ENST00000546015.1_Silent_p.Y308Y NM_018191.3 NP_060661.3 Q8NDN9 RCBT1_HUMAN regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1 308 cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus p.Y308Y(1) endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1) 16 Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;4.7e-09) GGCCCCACATGTACACGTGCC 0.577 20 47 --- --- --- --- MYCBP2 23077 broad.mit.edu 37 13 77664342 77664342 + Missense_Mutation SNP C C A TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2e3ac0f-09b3-4b5b-96a0-837dd9188192 40748368-1c04-420d-b21a-6a2a78ad0c6b g.chr13:77664342C>A ENST00000407578.2 - 60 10690 c.10424G>T c.(10423-10425)aGa>aTa p.R3475I MYCBP2_ENST00000544440.2_Missense_Mutation_p.R3437I|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000357337.6_Missense_Mutation_p.R3437I NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 3437 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding p.R3437I(1)|p.R3475I(1) NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) TGAGTATGATCTTTGGAAGAC 0.388 63 118 --- --- --- --- BNIP3P1 319138 broad.mit.edu 37 14 28733803 28733803 + RNA SNP A A T TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2e3ac0f-09b3-4b5b-96a0-837dd9188192 40748368-1c04-420d-b21a-6a2a78ad0c6b g.chr14:28733803A>T ENST00000550043.1 + 0 208 GAGAGCCTGCAGGGCTCCTGG 0.582 3 37 --- --- --- --- ADAM20 8748 broad.mit.edu 37 14 70989752 70989752 + Missense_Mutation SNP G G C TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2e3ac0f-09b3-4b5b-96a0-837dd9188192 40748368-1c04-420d-b21a-6a2a78ad0c6b g.chr14:70989752G>C ENST00000256389.3 - 2 2117 c.1873C>G c.(1873-1875)Ctg>Gtg p.L625V RP11-486O13.4_ENST00000556646.1_lincRNA NM_003814.4 NP_003805.3 O43506 ADA20_HUMAN ADAM metallopeptidase domain 20 575 Cys-rich. proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding p.L625V(1) autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2) 27 KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188) all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344) TGCTCTATCAGATTGGGAATT 0.448 3 131 --- --- --- --- DUOX2 50506 broad.mit.edu 37 15 45404868 45404868 + Missense_Mutation SNP T T C TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2e3ac0f-09b3-4b5b-96a0-837dd9188192 40748368-1c04-420d-b21a-6a2a78ad0c6b g.chr15:45404868T>C ENST00000389039.6 - 4 594 c.209A>G c.(208-210)tAt>tGt p.Y70C DUOX2_ENST00000603300.1_Missense_Mutation_p.Y70C Q9NRD8 DUOX2_HUMAN dual oxidase 2 70 Peroxidase-like; mediates peroxidase activity (By similarity). cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity p.Y70C(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 63 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) CAGAGCCTGATACACACCGTC 0.687 15 29 --- --- --- --- DUOX2 50506 broad.mit.edu 37 15 45404890 45404890 + Missense_Mutation SNP C C G TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2e3ac0f-09b3-4b5b-96a0-837dd9188192 40748368-1c04-420d-b21a-6a2a78ad0c6b g.chr15:45404890C>G ENST00000389039.6 - 4 572 c.187G>C c.(187-189)Gcc>Ccc p.A63P DUOX2_ENST00000603300.1_Missense_Mutation_p.A63P Q9NRD8 DUOX2_HUMAN dual oxidase 2 63 Peroxidase-like; mediates peroxidase activity (By similarity). cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity p.A63P(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 63 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) GCGTAATTGGCTGGTACGCGG 0.682 18 28 --- --- --- --- GNB5 10681 broad.mit.edu 37 15 52433404 52433404 + Missense_Mutation SNP T T C TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2e3ac0f-09b3-4b5b-96a0-837dd9188192 40748368-1c04-420d-b21a-6a2a78ad0c6b g.chr15:52433404T>C ENST00000261837.7 - 7 625 c.560A>G c.(559-561)aAa>aGa p.K187R GNB5_ENST00000396335.4_Intron|GNB5_ENST00000358784.7_Missense_Mutation_p.K145R NM_016194.3 NP_057278.2 O14775 GBB5_HUMAN guanine nucleotide binding protein (G protein), beta 5 187 heterotrimeric G-protein complex GTPase activity|signal transducer activity p.K187R(1) large_intestine(1)|lung(1) 2 all cancers(107;0.0163) AGACTTCTTTTTGGCAGCCAT 0.453 49 80 --- --- --- --- FAM214A 56204 broad.mit.edu 37 15 52877000 52877000 + Missense_Mutation SNP T T G TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2e3ac0f-09b3-4b5b-96a0-837dd9188192 40748368-1c04-420d-b21a-6a2a78ad0c6b g.chr15:52877000T>G ENST00000261844.7 - 12 3171 c.3019A>C c.(3019-3021)Aat>Cat p.N1007H FAM214A_ENST00000546305.2_Missense_Mutation_p.N1014H|RP11-23N2.4_ENST00000562062.1_RNA NM_019600.2 NP_062546.2 Q32MH5 K1370_HUMAN family with sequence similarity 214, member A 1007 p.N1007H(1) TTCTCTTTATTAACACTTCTC 0.348 14 53 --- --- --- --- RSPRY1 89970 broad.mit.edu 37 16 57243065 57243065 + Missense_Mutation SNP C C T TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2e3ac0f-09b3-4b5b-96a0-837dd9188192 40748368-1c04-420d-b21a-6a2a78ad0c6b g.chr16:57243065C>T ENST00000537866.1 + 4 1355 c.482C>T c.(481-483)aCa>aTa p.T161I RSPRY1_ENST00000394420.4_Missense_Mutation_p.T161I Q96DX4 RSPRY_HUMAN ring finger and SPRY domain containing 1 161 extracellular region zinc ion binding p.T161I(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3) 27 GCTGTTATAACATTGTTACTA 0.348 24 388 --- --- --- --- PDP2 57546 broad.mit.edu 37 16 66919043 66919043 + Missense_Mutation SNP G G A TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2e3ac0f-09b3-4b5b-96a0-837dd9188192 40748368-1c04-420d-b21a-6a2a78ad0c6b g.chr16:66919043G>A ENST00000311765.2 + 2 1190 c.856G>A c.(856-858)Gac>Aac p.D286N PDP2_ENST00000568720.1_Intron NM_020786.2 NP_065837.1 Q9P2J9 PDP2_HUMAN pyruvate dehyrogenase phosphatase catalytic subunit 2 286 pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix|protein serine/threonine phosphatase complex [pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding p.D286N(1) kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1) 12 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204) AAATGCTGGTGACTGCCGAGC 0.557 14 70 --- --- --- --- RABEP1 9135 broad.mit.edu 37 17 5264856 5264856 + Silent SNP A A G TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2e3ac0f-09b3-4b5b-96a0-837dd9188192 40748368-1c04-420d-b21a-6a2a78ad0c6b g.chr17:5264856A>G ENST00000262477.6 + 9 1673 c.1449A>G c.(1447-1449)caA>caG p.Q483Q RABEP1_ENST00000408982.2_Silent_p.Q483Q|NUP88_ENST00000573169.1_5'UTR|RABEP1_ENST00000537505.1_Silent_p.Q440Q|RABEP1_ENST00000341923.6_Silent_p.Q483Q|RABEP1_ENST00000546142.2_Silent_p.Q483Q NM_004703.4 NP_004694.2 Q15276 RABE1_HUMAN rabaptin, RAB GTPase binding effector protein 1 483 apoptosis|cellular membrane fusion|endocytosis|protein transport centrosome|early endosome|endocytic vesicle|recycling endosome growth factor activity|GTPase activator activity|protein homodimerization activity p.Q483Q(1) NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 8 CACCAGAACAAGAAGAGACAG 0.478 40 34 --- --- --- --- KCNAB3 9196 broad.mit.edu 37 17 7827736 7827736 + Silent SNP G G T rs145774275 TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2e3ac0f-09b3-4b5b-96a0-837dd9188192 40748368-1c04-420d-b21a-6a2a78ad0c6b g.chr17:7827736G>T ENST00000303790.2 - 9 707 c.708C>A c.(706-708)atC>atA p.I236I NM_004732.3 NP_004723.2 O43448 KCAB3_HUMAN potassium voltage-gated channel, shaker-related subfamily, beta member 3 236 cytoplasm|integral to membrane oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity p.I236I(1) breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1) 8 Prostate(122;0.157) CACTCACCATGATTTCTGCAG 0.572 3 57 --- --- --- --- MFAP4 4239 broad.mit.edu 37 17 19288435 19288435 + Missense_Mutation SNP G G A TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2e3ac0f-09b3-4b5b-96a0-837dd9188192 40748368-1c04-420d-b21a-6a2a78ad0c6b g.chr17:19288435G>A ENST00000395592.2 - 5 640 c.569C>T c.(568-570)gCa>gTa p.A190V MFAP4_ENST00000299610.4_Missense_Mutation_p.A166V|MFAP4_ENST00000497081.2_Missense_Mutation_p.A191V NM_001198695.1 NP_001185624.1 P55083 MFAP4_HUMAN microfibrillar-associated protein 4 166 Fibrinogen C-terminal. cell adhesion|signal transduction microfibril receptor binding p.A166V(1) large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1) 10 all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206) CTCAAAGCCTGCCACAAAGAG 0.602 34 37 --- --- --- --- UBTF 7343 broad.mit.edu 37 17 42284563 42284563 + Missense_Mutation SNP G G C TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2e3ac0f-09b3-4b5b-96a0-837dd9188192 40748368-1c04-420d-b21a-6a2a78ad0c6b g.chr17:42284563G>C ENST00000527034.1 - 20 2408 c.2227C>G c.(2227-2229)Ctc>Gtc p.L743V UBTF_ENST00000533177.1_3'UTR|UBTF_ENST00000393606.3_3'UTR|UBTF_ENST00000343638.5_3'UTR|UBTF_ENST00000302904.4_3'UTR|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000436088.1_3'UTR P17480 UBF1_HUMAN upstream binding transcription factor, RNA polymerase I 0 Asp/Glu/Ser-rich (acidic). positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleolus|nucleoplasm DNA binding|protein binding breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Breast(137;0.00765)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.114) CAGTTGGGGAGGGGAGCTCCT 0.567 15 25 --- --- --- --- OR7C1 26664 broad.mit.edu 37 19 14910838 14910838 + Silent SNP G G C TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2e3ac0f-09b3-4b5b-96a0-837dd9188192 40748368-1c04-420d-b21a-6a2a78ad0c6b g.chr19:14910838G>C ENST00000248073.2 - 1 185 c.111C>G c.(109-111)gtC>gtG p.V37V OR7A5_ENST00000601611.1_Intron NM_198944.1 NP_945182.1 O76099 OR7C1_HUMAN olfactory receptor, family 7, subfamily C, member 1 37 sensory perception of smell|spermatogenesis integral to membrane|plasma membrane olfactory receptor activity p.V37V(1) breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1) 18 CGGTGAAAGTGACTAGGTACA 0.493 6 144 --- --- --- --- OR7A5 26659 broad.mit.edu 37 19 14938095 14938095 + Nonstop_Mutation SNP C C A TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2e3ac0f-09b3-4b5b-96a0-837dd9188192 40748368-1c04-420d-b21a-6a2a78ad0c6b g.chr19:14938095C>A ENST00000322301.3 - 2 1046 c.959G>T c.(958-960)tGa>tTa p.*320L OR7A5_ENST00000601611.1_Intron|OR7A5_ENST00000594432.1_Nonstop_Mutation_p.*320L Q15622 OR7A5_HUMAN olfactory receptor, family 7, subfamily A, member 5 0 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.*320L(1) breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 GCCCTGCAATCATGGGCACTT 0.383 63 132 --- --- --- --- B3GNT3 10331 broad.mit.edu 37 19 17922668 17922668 + Missense_Mutation SNP G G C TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2e3ac0f-09b3-4b5b-96a0-837dd9188192 40748368-1c04-420d-b21a-6a2a78ad0c6b g.chr19:17922668G>C ENST00000318683.6 + 3 1003 c.856G>C c.(856-858)Gct>Cct p.A286P B3GNT3_ENST00000595387.1_Missense_Mutation_p.A286P NM_014256.3 NP_055071.2 Q9Y2A9 B3GN3_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 286 protein glycosylation Golgi membrane|integral to plasma membrane galactosyltransferase activity p.A286P(1) breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 21 CCTGCGCCGTGCTGCCCATGT 0.602 32 114 --- --- --- --- KRTDAP 388533 broad.mit.edu 37 19 35981320 35981320 + Missense_Mutation SNP C C T TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2e3ac0f-09b3-4b5b-96a0-837dd9188192 40748368-1c04-420d-b21a-6a2a78ad0c6b g.chr19:35981320C>T ENST00000338897.3 - 1 113 c.25G>A c.(25-27)Gtg>Atg p.V9M KRTDAP_ENST00000484218.2_Missense_Mutation_p.V9M|KRTDAP_ENST00000479340.1_Intron NM_207392.2 NP_997275.1 P60985 KTDAP_HUMAN keratinocyte differentiation-associated protein 9 cell differentiation extracellular region p.V9M(1) breast(1)|lung(4)|prostate(1) 6 all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) AGGAGCACCACGGCAGGAAGG 0.572 6 150 --- --- --- --- KIF16B 55614 broad.mit.edu 37 20 16360552 16360552 + Nonsense_Mutation SNP C C A TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2e3ac0f-09b3-4b5b-96a0-837dd9188192 40748368-1c04-420d-b21a-6a2a78ad0c6b g.chr20:16360552C>A ENST00000354981.2 - 19 2252 c.2095G>T c.(2095-2097)Gaa>Taa p.E699* KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000355755.3_Nonsense_Mutation_p.E699*|KIF16B_ENST00000408042.1_Nonsense_Mutation_p.E699* NM_001199865.1|NM_024704.4 NP_001186794.1|NP_078980.3 Q96L93 KI16B_HUMAN kinesin family member 16B 699 Glu-rich. cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling early endosome membrane|microtubule ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity p.E699*(2) NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2) 74 AAGGTCTCTTCTTCTTGTCTC 0.448 76 184 --- --- --- --- NAA20 51126 broad.mit.edu 37 20 20013297 20013297 + Splice_Site SNP G G A TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2e3ac0f-09b3-4b5b-96a0-837dd9188192 40748368-1c04-420d-b21a-6a2a78ad0c6b g.chr20:20013297G>A ENST00000398602.2 + 5 1050 c.415G>A c.(415-417)Gat>Aat p.D139N NAA20_ENST00000484480.1_3'UTR|NAA20_ENST00000334982.4_Splice_Site_p.D151N|NAA20_ENST00000310450.4_Intron NM_181527.3 NP_852668.1 P61599 NAA20_HUMAN N(alpha)-acetyltransferase 20, NatB catalytic subunit 151 N-acetyltransferase. cytoplasm|nucleus peptide alpha-N-acetyltransferase activity p.D151N(1) endometrium(3)|lung(2)|prostate(1) 6 GGACGCTTATGGTAAGCTCCC 0.408 10 77 --- --- --- --- STK4 6789 broad.mit.edu 37 20 43703680 43703680 + Missense_Mutation SNP G G A TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2e3ac0f-09b3-4b5b-96a0-837dd9188192 40748368-1c04-420d-b21a-6a2a78ad0c6b g.chr20:43703680G>A ENST00000372806.3 + 11 1422 c.1327G>A c.(1327-1329)Gac>Aac p.D443N STK4_ENST00000372801.1_3'UTR|STK4_ENST00000499879.2_Missense_Mutation_p.D388N NM_006282.2 NP_006273.1 Q13043 STK4_HUMAN serine/threonine kinase 4 443 SARAH. apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation cytoplasm|nucleus ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding p.D443N(1) NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2) 20 Myeloproliferative disorder(115;0.0122) GACAGTGGAGGACCTTCAGAA 0.542 5 68 --- --- --- --- ADNP 23394 broad.mit.edu 37 20 49509965 49509965 + Missense_Mutation SNP G G C TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2e3ac0f-09b3-4b5b-96a0-837dd9188192 40748368-1c04-420d-b21a-6a2a78ad0c6b g.chr20:49509965G>C ENST00000396029.3 - 5 1853 c.1286C>G c.(1285-1287)gCt>gGt p.A429G ADNP_ENST00000371602.4_Missense_Mutation_p.A429G|ADNP_ENST00000349014.3_Missense_Mutation_p.A429G|ADNP_ENST00000396032.3_Missense_Mutation_p.A429G NM_001282531.1|NM_015339.2 NP_001269460.1|NP_056154.1 Q9H2P0 ADNP_HUMAN activity-dependent neuroprotector homeobox 429 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.A429G(1) NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2) 39 GGCAGCTGCAGCAGGTTTGGA 0.473 64 154 --- --- --- --- KRTAP10-1 386677 broad.mit.edu 37 21 45959620 45959620 + Silent SNP C C T TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2e3ac0f-09b3-4b5b-96a0-837dd9188192 40748368-1c04-420d-b21a-6a2a78ad0c6b g.chr21:45959620C>T ENST00000400375.1 - 1 458 c.414G>A c.(412-414)caG>caA p.Q138Q TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron NM_198691.2 NP_941964.2 P60331 KR101_HUMAN keratin associated protein 10-1 138 24 X 5 AA repeats of C-C-X(3). keratin filament p.Q138Q(1) breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1) 11 AGCAGGACTGCTGGCTGGAGG 0.582 33 26 --- --- --- --- SF3A1 10291 broad.mit.edu 37 22 30736751 30736751 + Silent SNP T T C TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2e3ac0f-09b3-4b5b-96a0-837dd9188192 40748368-1c04-420d-b21a-6a2a78ad0c6b g.chr22:30736751T>C ENST00000215793.8 - 8 1276 c.1122A>G c.(1120-1122)acA>acG p.T374T SF3A1_ENST00000439242.1_Silent_p.T309T NM_005877.4 NP_005868.1 Q15459 SF3A1_HUMAN splicing factor 3a, subunit 1, 120kDa nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex protein binding|RNA binding p.T374T(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1) 29 GAGGCATGGGTGTCTCTGGGG 0.582 59 112 --- --- --- --- ISX 91464 broad.mit.edu 37 22 35481682 35481682 + Missense_Mutation SNP C C G TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2e3ac0f-09b3-4b5b-96a0-837dd9188192 40748368-1c04-420d-b21a-6a2a78ad0c6b g.chr22:35481682C>G ENST00000308700.6 + 4 1686 c.734C>G c.(733-735)aCa>aGa p.T245R ISX_ENST00000404699.2_Missense_Mutation_p.T245R NM_001008494.1 NP_001008494.1 Q2M1V0 ISX_HUMAN intestine-specific homeobox 245 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.T245R(1) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4) 26 GCTACTTCAACATAGAGATTG 0.532 3 121 --- --- --- --- GUCY2F 2986 broad.mit.edu 37 X 108718895 108718895 + Missense_Mutation SNP G G C TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2e3ac0f-09b3-4b5b-96a0-837dd9188192 40748368-1c04-420d-b21a-6a2a78ad0c6b g.chrX:108718895G>C ENST00000218006.2 - 2 562 c.271C>G c.(271-273)Ctg>Gtg p.L91V NM_001522.2 NP_001513.2 P51841 GUC2F_HUMAN guanylate cyclase 2F, retinal 91 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 p.L91V(2) breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1) 67 GAATAACTCAGGTCAAAAGAT 0.502 OREG0019905 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 96 44 --- --- --- --- ZZZ3 26009 broad.mit.edu 37 1 78098722 78098723 + Frame_Shift_Del DEL TC TC - TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2e3ac0f-09b3-4b5b-96a0-837dd9188192 40748368-1c04-420d-b21a-6a2a78ad0c6b g.chr1:78098722_78098723delTC ENST00000370801.3 - 5 792_793 c.317_318delGA c.(316-318)agafs p.R107fs ZZZ3_ENST00000370798.1_Intron NM_015534.4 NP_056349.1 Q8IYH5 ZZZ3_HUMAN zinc finger, ZZ-type containing 3 107 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2) 39 CTGTTTGCCTTCTCTCACAATT 0.391 117 268 --- --- --- --- LINC01322 103695433 broad.mit.edu 37 3 165320296 165320297 + RNA DEL TA TA - TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2e3ac0f-09b3-4b5b-96a0-837dd9188192 40748368-1c04-420d-b21a-6a2a78ad0c6b g.chr3:165320296_165320297delTA ENST00000496693.1 + 0 508 TGTTGTAACTTACCCTTCTGCC 0.391 44 127 --- --- --- --- SERINC1 57515 broad.mit.edu 37 6 122768119 122768119 + Frame_Shift_Del DEL A A - TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2e3ac0f-09b3-4b5b-96a0-837dd9188192 40748368-1c04-420d-b21a-6a2a78ad0c6b g.chr6:122768119delA ENST00000339697.4 - 9 1110 c.1026delT c.(1024-1026)aatfs p.N342fs NM_020755.2 NP_065806.1 Q9NRX5 SERC1_HUMAN serine incorporator 1 phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity|sphingolipid metabolic process endoplasmic reticulum membrane|integral to membrane|plasma membrane L-serine transmembrane transporter activity|protein binding endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(1) 13 GBM - Glioblastoma multiforme(226;0.126) GAGTCAGTTTATTAACCTGAC 0.363 58 116 --- --- --- --- LINGO2 158038 broad.mit.edu 37 9 27949103 27949103 + Frame_Shift_Del DEL C C - TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2e3ac0f-09b3-4b5b-96a0-837dd9188192 40748368-1c04-420d-b21a-6a2a78ad0c6b g.chr9:27949103delC ENST00000379992.2 - 6 2016 c.1567delG c.(1567-1569)gacfs p.D523fs LINGO2_ENST00000308675.3_Frame_Shift_Del_p.D523fs NM_152570.2 NP_689783.1 Q7L985 LIGO2_HUMAN leucine rich repeat and Ig domain containing 2 523 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) GAAATGGTGTCATTGGAGTCG 0.458 7 325 --- --- --- --- DCLRE1C 64421 broad.mit.edu 37 10 14951253 14951253 + Frame_Shift_Del DEL A A - TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2e3ac0f-09b3-4b5b-96a0-837dd9188192 40748368-1c04-420d-b21a-6a2a78ad0c6b g.chr10:14951253delA ENST00000453695.2 - 14 1317 c.873delT c.(871-873)tttfs p.F291fs DCLRE1C_ENST00000378278.2_Frame_Shift_Del_p.F411fs|DCLRE1C_ENST00000378255.1_Frame_Shift_Del_p.F291fs|DCLRE1C_ENST00000378249.1_Frame_Shift_Del_p.F296fs|DCLRE1C_ENST00000492201.1_5'UTR|DCLRE1C_ENST00000378289.4_Intron|DCLRE1C_ENST00000357717.2_Frame_Shift_Del_p.F296fs|DCLRE1C_ENST00000378254.1_Frame_Shift_Del_p.F291fs|DCLRE1C_ENST00000378246.2_Frame_Shift_Del_p.F296fs|DCLRE1C_ENST00000378242.1_Frame_Shift_Del_p.F64fs|DCLRE1C_ENST00000378258.1_Frame_Shift_Del_p.F291fs|DCLRE1C_ENST00000396817.2_Frame_Shift_Del_p.F291fs NM_001033855.1 NP_001029027.1 Q96SD1 DCR1C_HUMAN DNA cross-link repair 1C 411 DNA recombination nucleus 5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1) 17 CCTCAGGGTGAAAAGTTTCCG 0.448 Non-homologous end-joining 17 112 --- --- --- --- GANAB 23193 broad.mit.edu 37 11 62402415 62402416 + Frame_Shift_Ins INS - - GGAC TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2e3ac0f-09b3-4b5b-96a0-837dd9188192 40748368-1c04-420d-b21a-6a2a78ad0c6b g.chr11:62402415_62402416insGGAC ENST00000346178.4 - 5 452_453 c.437_438insGTCC c.(436-438)cccfs p.-146fs GANAB_ENST00000356638.3_Frame_Shift_Ins_p.-146fs|GANAB_ENST00000534422.1_5'UTR|GANAB_ENST00000540933.1_Frame_Shift_Ins_p.-49fs|GANAB_ENST00000534779.1_Frame_Shift_Ins_p.-32fs NM_001278192.1|NM_198335.2 NP_001265121.1|NP_938149.2 Q14697 GANAB_HUMAN glucosidase, alpha; neutral AB post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|Golgi apparatus|melanosome carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3) 35 TGATCTTGTAGGGTCCCTCAGC 0.480 46 136 --- --- --- --- ROCK1 6093 broad.mit.edu 37 18 18690838 18690839 + In_Frame_Ins INS - - AAA TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2e3ac0f-09b3-4b5b-96a0-837dd9188192 40748368-1c04-420d-b21a-6a2a78ad0c6b g.chr18:18690838_18690839insAAA ENST00000399799.2 - 1 973_974 c.33_34insTTT c.(31-36)tttgaa>tttTTTgaa p.11_12insF NM_005406.2 NP_005397.1 Q13464 ROCK1_HUMAN Rho-associated, coiled-coil containing protein kinase 1 actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction centriole|cytosol|Golgi membrane ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2) 16 Melanoma(1;0.165) TCCATTTTTTCAAATCGAGTCT 0.485 43 140 --- --- --- ---