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 MST1P2 11209 broad.mit.edu 37 1 16976743 16976743 + RNA SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:16976743C>T uc010och.2 + 13 c.2464C>T MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA. CCAGCCTTGACGCCATATGCT 0.468000 83 14 0 0 0.014323 0 0 AFM 173 broad.mit.edu 37 4 74352687 74352687 + Missense_Mutation SNP T G G TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr4:74352687T>G uc003hhb.3 + 4 517 c.486T>G c.(484-486)ttT>ttG p.F162L NM_001133 NP_001124 P43652 AFAM_HUMAN Homo sapiens afamin (AFM), mRNA. 162 Albumin 1. vitamin transport vitamin E binding breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 Breast(15;0.00102) Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) TTTATAGCTTTTTATATGAAG 0.428000 36 25 0 0 0.005443 0 0 ABCC8 6833 broad.mit.edu 37 11 17482077 17482077 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:17482077G>A uc001mnc.3 - 5 1095 c.969C>T c.(967-969)atC>atT p.I323I ABCC8_uc010rcy.1_Silent_p.I322I NM_000352 NP_000343 Q09428 ABCC8_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA. 323 ABC transmembrane type-1 1. carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) GGTGGTCCACGATCCCAAAGA 0.602000 200 138 0 0 0.014410 0 0 RP1L1 94137 broad.mit.edu 37 8 10469091 10469091 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr8:10469091C>T uc003wtc.3 - 3 2746 c.2517G>A c.(2515-2517)cgG>cgA p.R839R NM_178857 NP_849188 A6NKC6 A6NKC6_HUMAN Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA. 839 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) GGGAGGGTCCCCGCTGGGCCT 0.716000 11 11 0 0 0.010729 0 0 PHLDB2 90102 broad.mit.edu 37 3 111658470 111658470 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:111658470C>T uc010hqa.3 + 6 2690 c.2279C>T c.(2278-2280)tCt>tTt p.S760F PHLDB2_uc003dyc.3_Missense_Mutation_p.S744F|PHLDB2_uc003dyd.3_Missense_Mutation_p.S717F|PHLDB2_uc003dyg.3_Missense_Mutation_p.S760F|PHLDB2_uc003dyh.3_Missense_Mutation_p.S717F|PHLDB2_uc003dyi.3_Missense_Mutation_p.S346F NM_001134438 NP_001127911 Q86SQ0 PHLB2_HUMAN Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA. 760 cytoplasm|intermediate filament cytoskeleton|plasma membrane breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1) 55 AACATCGTTTCTAGAAAGGTA 0.378000 20 10 0 0 0.008291 0 0 ATRNL1 26033 broad.mit.edu 37 10 116887370 116887370 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr10:116887370C>T uc001lcg.3 + 3 891 c.505C>T c.(505-507)Cct>Tct p.P169S ATRNL1_uc001lce.3_Non-coding_Transcript|ATRNL1_uc001lcf.3_Missense_Mutation_p.P169S NM_207303 NP_997186 Q5VV63 ATRN1_HUMAN Homo sapiens attractin-like 1 (ATRNL1), mRNA. 169 CUB. integral to membrane sugar binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) TTTGATAGTCCCTGAAATAAG 0.328000 13 12 0 0 0.013537 0 0 NCKAP1L 3071 broad.mit.edu 37 12 54905807 54905807 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:54905807G>A uc001sgc.4 + 8 938 c.859G>A c.(859-861)Ggc>Agc p.G287S NCKAP1L_uc010sox.2_5'UTR|NCKAP1L_uc010soy.2_Missense_Mutation_p.G237S NM_005337 NP_005328 P55160 NCKPL_HUMAN Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA. 287 B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug SCAR complex|cytosol|integral to plasma membrane|membrane fraction Rac GTPase activator activity|protein complex binding|protein kinase activator activity NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2) 80 GTGTCTGCAGGGCTCCCTCTA 0.532000 38 32 0 0 0.003755 0 0 COL4A2 1284 broad.mit.edu 37 13 111109710 111109710 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr13:111109710G>A uc001vqx.3 + 20 1649 c.1360G>A c.(1360-1362)Gga>Aga p.G454R NM_001846 NP_001837 P08572 CO4A2_HUMAN Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA. 454 Triple-helical region. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) TGGGCTGAAAGGAGCAAAAGG 0.627000 14 7 0 0 0.001984 0 0 OR10G7 390265 broad.mit.edu 37 11 123908965 123908965 + Silent SNP A C C TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:123908965A>C uc001pzq.1 - 0 744 c.744T>G c.(742-744)ctT>ctG p.L248L NM_001004463 NP_001004463 Q8NGN6 O10G7_HUMAN Homo sapiens olfactory receptor, family 10, subfamily G, member 7 (OR10G7), mRNA. 248 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1) 47 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) CAAAGAAGCAAAGGACCACGA 0.562000 32 21 0 0 0.014323 0 0 INPP5A 3632 broad.mit.edu 37 10 134563050 134563050 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr10:134563050G>A uc001llp.3 + 9 1010 c.762G>A c.(760-762)acG>acA p.T254T INPP5A_uc001llo.1_Silent_p.T254T|INPP5A_uc001llq.3_Intron NM_005539 NP_005530 Q14642 I5P1_HUMAN Homo sapiens inositol polyphosphate-5-phosphatase, 40kDa (INPP5A), mRNA. 254 cell communication membrane PH domain binding|inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326) CCATGCAGACGGTCCGGGCCG 0.622000 36 18 0 0 0.007413 0 0 GAL3ST1 9514 broad.mit.edu 37 22 30951599 30951599 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr22:30951599C>T uc003aig.1 - 3 753 c.613G>A c.(613-615)Gac>Aac p.D205N GAL3ST1_uc003aih.1_Missense_Mutation_p.D205N|GAL3ST1_uc003aii.1_Missense_Mutation_p.D205N|GAL3ST1_uc010gvz.1_Missense_Mutation_p.D205N NM_004861 NP_004852 Q99999 G3ST1_HUMAN Homo sapiens galactose-3-O-sulfotransferase 1 (GAL3ST1), mRNA. 205 protein N-linked glycosylation Golgi membrane|integral to plasma membrane|membrane fraction galactosylceramide sulfotransferase activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 21 CCGTTGGGGTCGTAGTAGCGA 0.627000 59 30 0 0 0.007291 0 0 GIGYF2 26058 broad.mit.edu 37 2 233620943 233620943 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:233620943C>T uc002vtj.4 + 6 545 c.278C>T c.(277-279)tCc>tTc p.S93F GIGYF2_uc010zmj.1_Missense_Mutation_p.S93F|GIGYF2_uc002vtg.2_Missense_Mutation_p.S93F|GIGYF2_uc002vti.4_Missense_Mutation_p.S93F|GIGYF2_uc002vtk.4_Missense_Mutation_p.S93F|GIGYF2_uc002vth.4_Missense_Mutation_p.S93F|GIGYF2_uc010zmk.2_Non-coding_Transcript NM_001103147 NP_001096617 Q6Y7W6 PERQ2_HUMAN Homo sapiens GRB10 interacting GYF protein 2 (GIGYF2), transcript variant 1, mRNA. 93 cell death protein binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 63 Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145) AGAAACTTTTCCATGTCTGTA 0.408000 21 13 0 0 0.013537 0 0 PLXNA2 5362 broad.mit.edu 37 1 208234042 208234042 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:208234042G>A uc001hgz.3 - 12 3485 c.2727C>T c.(2725-2727)atC>atT p.I909I NM_025179 NP_079455 O75051 PLXA2_HUMAN Homo sapiens plexin A2 (PLXNA2), mRNA. 909 IPT/TIG 1. axon guidance integral to membrane|intracellular|plasma membrane NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3) 80 OV - Ovarian serous cystadenocarcinoma(81;0.199) GCTCAGCGATGATGTATTCCC 0.617000 30 14 0 0 0.003163 0 0 ASIC2 40 broad.mit.edu 37 17 32483160 32483160 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:32483160G>A uc002hhu.3 - 0 666 c.392C>T c.(391-393)cCc>cTc p.P131L NM_001094 NP_001085 Q16515 ACCN1_HUMAN Homo sapiens amiloride-sensitive cation channel 1, neuronal (ACCN1), transcript variant MDEG1, mRNA. 131 central nervous system development|peripheral nervous system development|synaptic transmission integral to plasma membrane ligand-gated sodium channel activity|protein binding Amiloride(DB00594) CAGCACGGAGGGGTCAGCCAG 0.617000 69 54 0 0 0.014410 0 0 TECTA 7007 broad.mit.edu 37 11 121059869 121059869 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:121059869G>A uc010rzo.2 + 20 6243 c.6243G>A c.(6241-6243)agG>agA p.R2081R NM_005422 NP_005413 O75443 TECTA_HUMAN Homo sapiens tectorin alpha (TECTA), mRNA. 2081 cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) GACCTATTAGGAGAAAAAGTA 0.428000 18 12 0 0 0.010729 0 0 TSPAN12 23554 broad.mit.edu 37 7 120450525 120450525 + Nonsense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr7:120450525G>A uc003vjk.3 - 5 834 c.460C>T c.(460-462)Cag>Tag p.Q154* TSPAN12_uc010lkj.3_Nonsense_Mutation_p.Q27* NM_012338 NP_036470 O95859 TSN12_HUMAN Homo sapiens tetraspanin 12 (TSPAN12), mRNA. 154 angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation integral to plasma membrane|membrane fraction endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1) 10 all_neural(327;0.117) ACCTCTCTCTGAAAAAAATTC 0.398000 23 25 0 0 0.007291 0 0 ROPN1L 83853 broad.mit.edu 37 5 10442315 10442315 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr5:10442315G>A uc021xwo.1 + 1 219 c.36G>A c.(34-36)caG>caA p.Q12Q ROPN1L_uc003jex.4_Silent_p.Q12Q NM_001201466 NP_001188395 Q96C74 ROP1L_HUMAN Homo sapiens rhophilin associated tail protein 1-like (ROPN1L), transcript variant 2, mRNA. 12 ciliary or flagellar motility|signal transduction cytoplasm|motile cilium cAMP-dependent protein kinase regulator activity|protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1) 14 GCGCTCAGCAGATCCACATTC 0.662000 9 38 0 0 0.005524 0 0 STAB2 55576 broad.mit.edu 37 12 104140468 104140468 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:104140468G>A uc001tjw.3 + 57 6416 c.6230G>A c.(6229-6231)gGa>gAa p.G2077E STAB2_uc009zug.3_Non-coding_Transcript NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN Homo sapiens stabilin 2 (STAB2), mRNA. 2077 EGF-like 15. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 GAAGGTGACGGAATCACATGC 0.512000 73 80 0 0 0.014410 0 0 RPTN 126638 broad.mit.edu 37 1 152127305 152127305 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:152127305C>T uc001ezs.1 - 2 2335 c.2270G>A c.(2269-2271)cGa>cAa p.R757Q NM_001122965 NP_001116437 Q6XPR3 RPTN_HUMAN Homo sapiens repetin (RPTN), mRNA. 757 Gln-rich. proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 TTGCCTGTCTCGTCTCTGATG 0.512000 219 173 0 0 0.014410 0 0 CR1 1378 broad.mit.edu 37 1 207700144 207700144 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:207700144G>A uc001hfy.3 + 5 1073 c.933G>A c.(931-933)agG>agA p.R311R CR1_uc009xcl.1_Intron|CR1_uc001hfx.3_Silent_p.R311R|CR1_uc021pij.1_Silent_p.R311R|CR1_uc009xcj.1_Intron|CR1_uc009xck.1_Silent_p.R311R NM_000573 NP_000564 P17927 CR1_HUMAN Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA. 311 Sushi 5. complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 GTACCCAAAGGGACAAGGACA 0.527000 139 71 0 0 0.014410 0 0 TTN 7273 broad.mit.edu 37 2 179475012 179475012 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:179475012G>A uc021vsy.1 - 219 43762 c.43537C>T c.(43537-43539)Cat>Tat p.H14513Y MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.H8208Y|TTN_uc021vta.1_Missense_Mutation_p.H8141Y|TTN_uc021vtb.1_Missense_Mutation_p.H8016Y NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 15440 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) AGGACATAATGAAGAATTGGG 0.428000 95 72 0 0 0.014410 0 0 AADACL3 126767 broad.mit.edu 37 1 12785267 12785267 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:12785267C>T uc009vnn.1 + 3 590 c.357C>T c.(355-357)tcC>tcT p.S119S AADACL3_uc001aug.1_Silent_p.S49S NM_001103170 NP_001096640 Q5VUY0 ADCL3_HUMAN Homo sapiens arylacetamide deacetylase-like 3 (AADACL3), transcript variant 1, mRNA. 119 hydrolase activity p.S119S(1)|p.S49S(1) breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1) 15 Ovarian(185;0.249) Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) TCCTGAAGTCCCTGGATGCAT 0.512000 69 49 0 0 0.014410 0 0 TEX13A 56157 broad.mit.edu 37 X 104464658 104464658 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chrX:104464658C>T uc004ema.3 - 1 536 c.424G>A c.(424-426)Gag>Aag p.E142K IL1RAPL2_uc004elz.1_Intron|TEX13A_uc004emb.3_Missense_Mutation_p.E142K NM_031274 NP_112564 Q9BXU3 TX13A_HUMAN Homo sapiens testis expressed 13A (TEX13A), mRNA. 142 intracellular zinc ion binding large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1) 8 TTGTCTCTCTCTTTCTGCACC 0.607000 1 17 0 0 0.010504 0 0 LRRC32 2615 broad.mit.edu 37 11 76371341 76371341 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:76371341G>A uc001oxq.4 - 2 1539 c.1296C>T c.(1294-1296)ggC>ggT p.G432G LRRC32_uc001oxr.4_Silent_p.G432G|LRRC32_uc010rsf.2_Silent_p.G432G NM_005512 NP_005503 Q14392 LRC32_HUMAN Homo sapiens leucine rich repeat containing 32 (LRRC32), transcript variant 1, mRNA. 432 integral to plasma membrane endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1) 31 AGCCGGAGGGGCCAGGCTCAT 0.657000 8 16 0 0 0.004990 0 0 GOLM1 51280 broad.mit.edu 37 9 88661463 88661463 + Missense_Mutation SNP T A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr9:88661463T>A uc004aol.3 - 4 595 c.389A>T c.(388-390)aAt>aTt p.N130I GOLM1_uc010mqd.1_Non-coding_Transcript|GOLM1_uc004aom.3_Missense_Mutation_p.N130I NM_016548 NP_808800 Q8NBJ4 GOLM1_HUMAN Homo sapiens golgi membrane protein 1 (GOLM1), transcript variant 1, mRNA. 130 Golgi apparatus|integral to plasma membrane breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 17 CCTGCCGTAATTCCTCTGCAG 0.532000 9 7 0 0 0.008291 0 0 AHNAK2 113146 broad.mit.edu 37 14 105416205 105416206 + Missense_Mutation DNP GG AA AA TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr14:105416205_105416206GG>AA uc010axc.1 - 6 5702_5703 c.5582_5583CC>TT c.(5581-5583)tcc>tTT p.S1861F AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.S1761F NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA. 1861 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CCCCCTGCATGGAGGGGAGGCT 0.644000 135 92 0 0 0.004672 0 0 KCNQ2 3785 broad.mit.edu 37 20 62070013 62070013 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr20:62070013C>T uc002yey.1 - 6 1165 c.988G>A c.(988-990)Gag>Aag p.E330K KCNQ2_uc002yez.1_Missense_Mutation_p.E330K|KCNQ2_uc002yfa.1_Missense_Mutation_p.E330K|KCNQ2_uc002yfb.1_Missense_Mutation_p.E330K|KCNQ2_uc011aax.1_Missense_Mutation_p.E330K|KCNQ2_uc002yfc.1_Missense_Mutation_p.E330K NM_172107 NP_742105 O43526 KCNQ2_HUMAN Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 2 (KCNQ2), transcript variant 1, mRNA. 330 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) CGCCTCTTCTCAAAGTGCTTC 0.622000 44 20 0 0 0.010504 0 0 MAGEA10 4109 broad.mit.edu 37 X 151303095 151303095 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chrX:151303095G>A uc022cgz.1 - 0 998 c.998C>T c.(997-999)gCt>gTt p.A333V MAGEA5_uc022cgy.1_Intron|MAGEA10_uc004ffk.3_Missense_Mutation_p.A333V|MAGEA10_uc004ffm.2_Missense_Mutation_p.A333V|MAGEA10_uc004ffl.3_Missense_Mutation_p.A333V NM_021048 NP_066386 P43363 MAGAA_HUMAN Homo sapiens melanoma antigen family A, 10 (MAGEA10), transcript variant 2, mRNA. 333 MAGE. endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) ATCTTTCAAAGCCTCCTCATA 0.488000 13 61 0 0 0.014410 0 0 TRPC5 7224 broad.mit.edu 37 X 111195505 111195505 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chrX:111195505C>T uc004epl.1 - 1 1063 c.144G>A c.(142-144)gtG>gtA p.V48V TRPC5_uc004epm.1_Silent_p.V48V NM_012471 NP_036603 Q9UL62 TRPC5_HUMAN Homo sapiens transient receptor potential cation channel, subfamily C, member 5 (TRPC5), mRNA. 48 axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 GGGCCTGCTTCACAGTGGCAT 0.547000 7 33 0 0 0.003271 0 0 PDHX 8050 broad.mit.edu 37 11 35016516 35016516 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:35016516C>T uc001mvt.3 + 10 1829 c.1303C>T c.(1303-1305)Cct>Tct p.P435S PDHX_uc010rep.2_Missense_Mutation_p.P420S|PDHX_uc010req.2_Missense_Mutation_p.P208S NM_003477 NP_003468 O00330 ODPX_HUMAN Homo sapiens pyruvate dehydrogenase complex, component X (PDHX), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 435 pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix acyltransferase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1) 16 all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242) all_hematologic(20;0.124) STAD - Stomach adenocarcinoma(6;0.00113) GATTAACCCTCCTCAGGCCTG 0.498000 78 58 0 0 0.014410 0 0 ABCC12 94160 broad.mit.edu 37 16 48167670 48167670 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr16:48167670G>A uc002efc.1 - 6 1402 c.1056C>T c.(1054-1056)atC>atT p.I352I ABCC12_uc002eey.1_Non-coding_Transcript|ABCC12_uc002eez.1_Non-coding_Transcript|ABCC12_uc002efa.1_Non-coding_Transcript|ABCC12_uc002efb.1_Non-coding_Transcript|ABCC12_uc002efd.1_Non-coding_Transcript|ABCC12_uc002efe.1_Silent_p.I352I|ABCC12_uc010vgj.1_Non-coding_Transcript NM_033226 NP_150229 Q96J65 MRP9_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 12 (ABCC12), mRNA. 352 ABC transmembrane type-1 1. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1) 90 all_cancers(37;0.0474)|all_lung(18;0.047) TGGTGGACACGATGGGGGCCA 0.502000 25 25 0 0 0.005443 0 0 BTG1 694 broad.mit.edu 37 12 92539259 92539259 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:92539259G>A uc001tby.3 - 0 415 c.53C>T c.(52-54)gCc>gTc p.A18V BTG1_uc001tbv.1_5'Flank|BTG1_uc001tbw.1_5'Flank|BTG1_uc001tbx.1_5'Flank|BTG1_uc009zss.1_5'Flank|BC044741_uc001tca.3_5'Flank NM_001731 NP_001722 P62324 BTG1_HUMAN Homo sapiens B-cell translocation gene 1, anti-proliferative (BTG1), mRNA. 18 cell migration|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of endothelial cell differentiation|positive regulation of myoblast differentiation|regulation of apoptosis|regulation of transcription, DNA-dependent cytoplasm|nucleus kinase binding|transcription cofactor activity haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(1)|lung(2) 16 Acute lymphoblastic leukemia(6;3.02e-13)|all_hematologic(6;4.32e-09) GAAGGACACGGCGGCGGCGAT 0.706000 T MYC BCLL 51 41 0 0 0.011902 0 0 SLC4A3 6508 broad.mit.edu 37 2 220500401 220500401 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:220500401C>T uc002vmo.4 + 13 2269 c.2060C>T c.(2059-2061)tCt>tTt p.S687F SLC4A3_uc002vmp.4_Missense_Mutation_p.S660F|SLC4A3_uc010fwm.3_Missense_Mutation_p.S210F|SLC4A3_uc010fwn.1_Missense_Mutation_p.S169F NM_201574 NP_963868 P48751 B3A3_HUMAN Homo sapiens solute carrier family 4, anion exchanger, member 3 (SLC4A3), transcript variant 2, mRNA. 660 bicarbonate transport integral to plasma membrane|membrane fraction inorganic anion exchanger activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 51 Renal(207;0.0183) Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCAGAACTGTCTTTGGAGTTG 0.637000 11 9 0 0 0.004482 0 0 IDH3A 3419 broad.mit.edu 37 15 78453956 78453956 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr15:78453956C>T uc002bdd.3 + 4 350 c.323C>T c.(322-324)cCa>cTa p.P108L IDH3A_uc010umt.2_Intron|IDH3A_uc010umu.2_5'UTR|IDH3A_uc002bdf.3_5'UTR|IDH3A_uc010umv.2_Missense_Mutation_p.P58L|IDH3A_uc021srf.1_Non-coding_Transcript|IDH3A_uc002bdg.3_Missense_Mutation_p.P21L NM_005530 NP_005521 P50213 IDH3A_HUMAN Homo sapiens isocitrate dehydrogenase 3 (NAD+) alpha (IDH3A), nuclear gene encoding mitochondrial protein, mRNA. 108 carbohydrate metabolic process|tricarboxylic acid cycle mitochondrial matrix NAD binding|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding endometrium(1)|large_intestine(5)|lung(5)|stomach(1) 12 NADH(DB00157) GCCGGTCACCCATCTATGAAT 0.453000 43 18 0 0 0.007413 0 0 NPEPPS 9520 broad.mit.edu 37 17 45669398 45669398 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:45669398G>A uc002ilr.4 + 10 1560 c.1337G>A c.(1336-1338)cGa>cAa p.R446Q NPEPPS_uc010wkt.2_Missense_Mutation_p.R442Q|NPEPPS_uc010wku.2_Missense_Mutation_p.R410Q|NPEPPS_uc010wkv.2_5'UTR NM_006310 NP_006301 P55786 PSA_HUMAN Homo sapiens aminopeptidase puromycin sensitive (NPEPPS), mRNA. 446 proteolysis cytosol|nucleus aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 27 TCTGTCATCCGAATGCTGCAT 0.373000 40 6 0 0 0.004482 0 0 ERC2 26059 broad.mit.edu 37 3 56330089 56330089 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:56330089C>T uc021wzo.1 - 1 1172 c.1032G>A c.(1030-1032)gtG>gtA p.V344V ERC2_uc003dhr.1_Silent_p.V344V NM_015576 NP_056391 O15083 ERC2_HUMAN Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA. 344 cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) GATCTAAAATCACTTCCAAGT 0.428000 53 36 0 0 0.013726 0 0 CDH22 64405 broad.mit.edu 37 20 44841652 44841652 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr20:44841652G>A uc002xrm.2 - 4 1413 c.1014C>T c.(1012-1014)gcC>gcT p.A338A CDH22_uc010ghk.1_Silent_p.A338A|CDH22_uc002xrn.2_Silent_p.A89A NM_021248 NP_067071 Q9UJ99 CAD22_HUMAN Homo sapiens cadherin 22, type 2 (CDH22), mRNA. 338 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.E337E(1) endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 44 Myeloproliferative disorder(115;0.0122) CTACGATGATGGCCTCCTGAG 0.607000 31 14 0 0 0.004990 0 0 CPXM2 119587 broad.mit.edu 37 10 125514272 125514272 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr10:125514272G>A uc001lhk.1 - 12 2249 c.1924C>T c.(1924-1926)Cgt>Tgt p.R642C CPXM2_uc001lhj.3_Non-coding_Transcript NM_198148 NP_937791 Q8N436 CPXM2_HUMAN Homo sapiens carboxypeptidase X (M14 family), member 2 (CPXM2), mRNA. 642 cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3) 47 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) TTAATGCCACGATGAACCTGC 0.517000 58 47 0 0 0.013114 0 0 ZNF251 90987 broad.mit.edu 37 8 145947332 145947332 + Nonsense_Mutation SNP A T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr8:145947332A>T uc003zdv.4 - 4 1969 c.1713T>A c.(1711-1713)taT>taA p.Y571* NM_138367 NP_612376 Q9BRH9 ZN251_HUMAN Homo sapiens zinc finger protein 251 (ZNF251), mRNA. 571 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1) 17 all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11) GBM - Glioblastoma multiforme(99;0.198) AAGCTTTTCCATATTCATTAC 0.468000 39 33 0 0 0.012213 0 0 LRSAM1 90678 broad.mit.edu 37 9 130236188 130236188 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr9:130236188C>T uc004brb.2 + 10 1100 c.728C>T c.(727-729)tCa>tTa p.S243L LRSAM1_uc010mxk.2_Missense_Mutation_p.S243L|LRSAM1_uc004brc.2_Missense_Mutation_p.S243L|LRSAM1_uc004brd.2_Missense_Mutation_p.S243L NM_001005373 NP_612370 Q6UWE0 LRSM1_HUMAN Homo sapiens leucine rich repeat and sterile alpha motif containing 1 (LRSAM1), transcript variant 2, mRNA. 243 negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis cytoplasm|extracellular region|membrane part hormone activity|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2) 16 GACAGATTCTCAAGGGAGGAG 0.537000 33 38 0 0 0.014410 0 0 ZNF665 79788 broad.mit.edu 37 19 53667831 53667831 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:53667831G>A uc010eqm.1 - 3 2012 c.1912C>T c.(1912-1914)Cgt>Tgt p.R638C NM_024733 NP_079009 Q9H7R5 ZN665_HUMAN Homo sapiens zinc finger protein 665 (ZNF665), mRNA. 573 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 35 GBM - Glioblastoma multiforme(134;0.0196) AGGGTTGAACGAACACTGAAG 0.393000 43 25 0 0 0.004656 0 0 BPTF 2186 broad.mit.edu 37 17 65914854 65914854 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:65914854C>T uc002jgf.3 + 11 5389 c.5328C>T c.(5326-5328)tcC>tcT p.S1776S BPTF_uc002jge.3_Silent_p.S1902S NM_182641 NP_872579 Q12830 BPTF_HUMAN Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA. 1902 Thr-rich. brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent NURF complex|cytoplasm sequence-specific DNA binding|transcription factor binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) CAGTAAAGTCCTTAGCTGGAG 0.428000 88 55 0 0 0.014410 0 0 FAM189B 10712 broad.mit.edu 37 1 155220423 155220423 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:155220423G>A uc001fjm.3 - 8 1760 c.1154C>T c.(1153-1155)cCc>cTc p.P385L FAM189B_uc009wql.3_Missense_Mutation_p.P187L|FAM189B_uc001fjn.3_Missense_Mutation_p.P289L|FAM189B_uc001fjo.3_Missense_Mutation_p.P367L|FAM189B_uc001fjp.3_Intron NM_006589 NP_006580 P81408 F189B_HUMAN Homo sapiens family with sequence similarity 189, member B (FAM189B), transcript variant 1, mRNA. 385 integral to membrane WW domain binding breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 23 TTCCTCGAAGGGGCCCCGCAG 0.701000 21 13 0 0 0.004990 0 0 PAPOLG 64895 broad.mit.edu 37 2 61021139 61021139 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:61021139C>T uc002sai.3 + 18 2051 c.1802C>T c.(1801-1803)cCc>cTc p.P601L PAPOLG_uc002saj.3_Missense_Mutation_p.P290L|PAPOLG_uc002sak.3_Missense_Mutation_p.P136L|PAPOLG_uc010fch.3_Missense_Mutation_p.P290L NM_022894 NP_075045 Q9BWT3 PAPOG_HUMAN Homo sapiens poly(A) polymerase gamma (PAPOLG), mRNA. 601 RNA polyadenylation|mRNA processing|transcription, DNA-dependent nucleus ATP binding|RNA binding|metal ion binding|polynucleotide adenylyltransferase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 35 all_hematologic(2;0.0797) LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768) GTATCACCCCCCACTGTGTGT 0.393000 48 32 0 0 0.013726 0 0 C10orf54 64115 broad.mit.edu 37 10 73511434 73511434 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr10:73511434G>A uc001jsd.3 - 5 1030 c.889C>T c.(889-891)Cca>Tca p.P297S CDH23_uc001jrx.4_Intron|C10orf54_uc001jse.3_Missense_Mutation_p.P165S NM_022153 NP_071436 Q9H7M9 GI24_HUMAN Homo sapiens chromosome 10 open reading frame 54 (C10orf54), mRNA. 297 integral to membrane receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 9 CCCAGGGATGGGAAGAAGACG 0.627000 30 23 0 0 0.004656 0 0 NRAS 4893 broad.mit.edu 37 1 115256530 115256530 + Missense_Mutation SNP G T T rs121913254 TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:115256530G>T uc009wgu.3 - 2 435 c.181C>A c.(181-183)Caa>Aaa p.Q61K NM_002524 NP_002515 P01111 RASN_HUMAN Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA. 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61K(1229)|p.Q61R(898)|p.Q61L(198)|p.Q61H(123)|p.Q61P(23)|p.Q61E(18)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60>?(2)|p.G60R(1)|p.Q61*(1)|p.Q61_E62>HK(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) TACTCTTCTTGTCCAGCTGTA 0.458000 Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 19 144 7.99487e-62 8.63653e-62 0.014410 1 0 IGFN1 91156 broad.mit.edu 37 1 201190759 201190759 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:201190759G>A uc001gwc.3 + 18 10216 c.10086G>A c.(10084-10086)acG>acA p.T3362T IGFN1_uc001gwb.3_Non-coding_Transcript NM_001164586 NP_001158058 Homo sapiens immunoglobulin-like and fibronectin type III domain containing 1 (IGFN1), mRNA. autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 CCACCTACACGGCCAAGGGGC 0.617000 33 39 0 0 0.006230 0 0 AQP12B 653437 broad.mit.edu 37 2 241622081 241622081 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:241622081G>A uc010fzj.3 - 0 237 c.174C>T c.(172-174)gtC>gtT p.V58V AQP12B_uc002vzt.3_Intron NM_001102467 NP_001095937 A6NM10 AQ12B_HUMAN Homo sapiens aquaporin 12B (AQP12B), mRNA. 46 integral to membrane transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|lung(8)|ovary(1) 13 all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757) GCCCGAGCTCGACCAGCGTCC 0.701000 19 17 0 0 0.004007 0 0 MAFB 9935 broad.mit.edu 37 20 39316829 39316830 + Missense_Mutation DNP AC TT TT TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr20:39316829_39316830AC>TT uc002xji.3 - 0 1047_1048 c.661_662GT>AA c.(661-663)gtg>AAg p.V221K NM_005461 NP_005452 Q9Y5Q3 MAFB_HUMAN Homo sapiens v-maf musculoaponeurotic fibrosarcoma oncogene homolog B (avian) (MAFB), mRNA. 221 negative regulation of erythrocyte differentiation sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding kidney(1)|large_intestine(1) 2 Myeloproliferative disorder(115;0.00878) CAGCTCGCGCACGGACATGGAC 0.723000 T IGH@ MM 11 4 0 0 0.004672 0 0 SLIT1 6585 broad.mit.edu 37 10 98923177 98923177 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr10:98923177C>T uc001kmw.2 - 2 553 c.301G>A c.(301-303)Gaa>Aaa p.E101K SLIT1_uc009xvh.1_Missense_Mutation_p.E101K|ARHGAP19_uc001kmy.3_Non-coding_Transcript NM_003061 NP_003052 O75093 SLIT1_HUMAN Homo sapiens slit homolog 1 (Drosophila) (SLIT1), mRNA. 101 axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis cytoplasm|extracellular space Roundabout binding|calcium ion binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 78 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) GCACCACGTTCCACTGCTCCA 0.597000 182 158 0 0 0.014410 0 0 LRRC4C 57689 broad.mit.edu 37 11 40137212 40137212 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:40137212C>T uc021qgf.1 - 0 631 c.631G>A c.(631-633)Gaa>Aaa p.E211K LRRC4C_uc001mxc.1_Missense_Mutation_p.E207K|LRRC4C_uc001mxd.1_Missense_Mutation_p.E207K|LRRC4C_uc001mxa.1_Missense_Mutation_p.E211K|LRRC4C_uc001mxb.1_Missense_Mutation_p.E207K NM_020929 NP_065980 Q9HCJ2 LRC4C_HUMAN Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA. 211 regulation of axonogenesis integral to membrane protein binding p.E211*(2) 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) TTAGGGATTTCCCGAAGGTTG 0.453000 42 31 0 0 0.010818 0 0 DDX53 168400 broad.mit.edu 37 X 23018312 23018312 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chrX:23018312C>T uc004daj.3 + 0 235 c.138C>T c.(136-138)tcC>tcT p.S46S NM_182699 NP_874358 Q86TM3 DDX53_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 (DDX53), mRNA. 46 nucleus ATP binding|ATP-dependent helicase activity|RNA binding breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 35 CAGCAGGCTCCCGTGAACCAC 0.507000 4 21 0 0 0.012319 0 0 UBE3A 7337 broad.mit.edu 37 15 25616380 25616380 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr15:25616380G>A uc001zaq.3 - 6 1710 c.950C>T c.(949-951)cCc>cTc p.P317L SNRPN_uc001zae.3_Intron|UBE3A_uc001zar.3_Missense_Mutation_p.P294L|UBE3A_uc001zas.3_Missense_Mutation_p.P314L|UBE3A_uc001zat.3_Missense_Mutation_p.P294L NM_000462 NP_570853 Q05086 UBE3A_HUMAN Homo sapiens ubiquitin protein ligase E3A (UBE3A), transcript variant 2, mRNA. 317 brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus|proteasome complex protein binding|ubiquitin-protein ligase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 38 all_cancers(20;3.47e-21)|Breast(32;0.00123) all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616) GGCTGCAAGGGGTAGCTTGCT 0.393000 27 30 0 0 0.008361 0 0 ZBTB39 9880 broad.mit.edu 37 12 57397508 57397508 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:57397508G>A uc001sml.2 - 1 1347 c.1194C>T c.(1192-1194)ttC>ttT p.F398F ZBTB39_uc021qzg.1_Silent_p.F398F NM_014830 NP_055645 O15060 ZBT39_HUMAN Homo sapiens zinc finger and BTB domain containing 39 (ZBTB39), mRNA. 398 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1) 16 AGGAGAAAAGGAAAATACCAA 0.512000 35 29 0 0 0.007291 0 0 NEURL3 93082 broad.mit.edu 37 2 97165184 97165184 + RNA SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:97165184G>A uc010fhx.3 - 3 c.767C>T NEURL3_uc002swc.3_Non-coding_Transcript Homo sapiens neuralized homolog 3 (Drosophila) pseudogene (NEURL3), non-coding RNA. CTGGCTGTGGGATCTGAGGCA 0.632000 40 31 0 0 0.010818 0 0 CSMD3 114788 broad.mit.edu 37 8 113246620 113246620 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr8:113246620C>T uc003ynu.3 - 67 10873 c.10714G>A c.(10714-10716)Gaa>Aaa p.E3572K CSMD3_uc003yns.3_Missense_Mutation_p.E2774K|CSMD3_uc003ynt.3_Missense_Mutation_p.E3532K|CSMD3_uc011lhx.2_Missense_Mutation_p.E3403K NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA. 3572 integral to membrane|plasma membrane p.E3572*(2)|p.E3532*(1) breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 CAATTTTCTTCCTTCATTTTC 0.358000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 61 33 0 0 0.004878 0 0 NEB 4703 broad.mit.edu 37 2 152482132 152482132 + Nonsense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:152482132C>T uc021vrb.1 - 65 9668 c.9639G>A c.(9637-9639)tgG>tgA p.W3213* NEB_uc002txu.3_Nonsense_Mutation_p.W3456*|NEB_uc021vrc.1_Nonsense_Mutation_p.W3456*|NEB_uc010fnx.3_Nonsense_Mutation_p.W3201*|NEB_uc021vrd.1_Nonsense_Mutation_p.W3213* NM_004543 NP_004534 P20929 NEBU_HUMAN Homo sapiens nebulin (NEB), transcript variant 3, mRNA. 3213 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) TGTCTTTGTCCCAGGCTTCTG 0.338000 15 9 0 0 0.004482 0 0 LCE2B 26239 broad.mit.edu 37 1 152659456 152659456 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:152659456C>T uc001fai.3 + 1 191 c.137C>T c.(136-138)tCt>tTt p.S46F LCE2B_uc021ozd.1_Missense_Mutation_p.S46F NM_014357 NP_055172 O14633 LCE2B_HUMAN Homo sapiens late cornified envelope 2B (LCE2B), mRNA. 46 Cys-rich. keratinization endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 11 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) GCAGTCTCTTCTTGCTGTGGT 0.627000 101 70 0 0 0.014410 0 0 SPOCK3 50859 broad.mit.edu 37 4 167983660 167983660 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr4:167983660C>T uc011cjq.1 - 1 311 c.254G>A c.(253-255)gGa>gAa p.G85E SPOCK3_uc021xuf.1_Missense_Mutation_p.G76E|SPOCK3_uc011cjr.1_5'UTR|SPOCK3_uc003iri.1_Missense_Mutation_p.G76E|SPOCK3_uc011cjs.1_Missense_Mutation_p.G25E|SPOCK3_uc003irj.1_Missense_Mutation_p.G73E|SPOCK3_uc011cjt.1_Intron|SPOCK3_uc011cjp.2_Missense_Mutation_p.G73E|SPOCK3_uc011cju.1_Intron|SPOCK3_uc011cjv.1_Intron|SPOCK3_uc003irk.4_Missense_Mutation_p.G73E|SPOCK3_uc011cjw.1_Non-coding_Transcript NM_001204353 NP_001191282 Q9BQ16 TICN3_HUMAN Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 (SPOCK3), transcript variant 4, mRNA. 76 signal transduction proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase inhibitor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 38 all_hematologic(180;0.221) Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198) GBM - Glioblastoma multiforme(119;0.02) GAAGGGTTTTCCTGGACTCCA 0.308000 30 28 0 0 0.013726 0 0 PCDH15 65217 broad.mit.edu 37 10 55955622 55955622 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr10:55955622G>A uc010qhy.1 - 11 1536 c.1141C>T c.(1141-1143)Cct>Tct p.P381S PCDH15_uc010qhq.2_Missense_Mutation_p.P381S|PCDH15_uc010qhr.2_Missense_Mutation_p.P376S|PCDH15_uc021pqv.1_Missense_Mutation_p.P376S|PCDH15_uc021pqw.1_Missense_Mutation_p.P381S|PCDH15_uc010qht.2_Missense_Mutation_p.P376S|PCDH15_uc021pqx.1_Missense_Mutation_p.P376S|PCDH15_uc001jjv.1_Missense_Mutation_p.P354S|PCDH15_uc021pqy.1_Missense_Mutation_p.P376S|PCDH15_uc021pqz.1_Missense_Mutation_p.P354S|PCDH15_uc010qhv.1_Missense_Mutation_p.P376S|PCDH15_uc010qhw.1_Missense_Mutation_p.P339S|PCDH15_uc010qhx.1_Missense_Mutation_p.P376S|PCDH15_uc010qhz.1_Missense_Mutation_p.P376S|PCDH15_uc010qia.1_Missense_Mutation_p.P354S|PCDH15_uc001jju.1_Missense_Mutation_p.P376S|PCDH15_uc010qib.1_Missense_Mutation_p.P354S|PCDH15_uc001jjw.3_Missense_Mutation_p.P376S NM_001142763 NP_001136235 Q96QU1 PCD15_HUMAN Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA. 376 Cadherin 3. 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) GCAAAGGCAGGAAGAGGATGA 0.368000 HNSCC(58;0.16) 38 21 0 0 0.014323 0 0 ZC3HAV1 56829 broad.mit.edu 37 7 138738767 138738767 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr7:138738767G>A uc003vun.3 - 10 2650 c.2262C>T c.(2260-2262)ttC>ttT p.F754F NM_020119 NP_064504 Q7Z2W4 ZCCHV_HUMAN Homo sapiens zinc finger CCCH-type, antiviral 1 (ZC3HAV1), transcript variant 1, mRNA. 754 PARP catalytic. response to virus cytoplasm|nucleus NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1) 37 TTTCAATCTTGAAATTTTTCA 0.338000 19 15 0 0 0.002450 0 0 MYF6 4618 broad.mit.edu 37 12 81101504 81101504 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:81101504G>A uc001szf.2 + 0 97 c.6G>A c.(4-6)atG>atA p.M2I NM_002469 NP_002460 P23409 MYF6_HUMAN Homo sapiens myogenic factor 6 (herculin) (MYF6), mRNA. 2 muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1) 26 AGAACATGATGATGGACCTTT 0.463000 41 36 0 0 0.005524 0 0 SLC6A4 6532 broad.mit.edu 37 17 28537620 28537620 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:28537620G>A uc002hey.4 - 10 1906 c.1362C>T c.(1360-1362)ttC>ttT p.F454F SLC6A4_uc010csg.3_Non-coding_Transcript NM_001045 NP_001036 P31645 SC6A4_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 (SLC6A4), mRNA. 454 response to toxin|serotonin uptake|thalamus development cytosol|endomembrane system|endosome membrane|membrane raft Rab GTPase binding|actin filament binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4) 25 Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832) AGACGTGTGGGAACTCATCCA 0.592000 53 46 0 0 0.014410 0 0 ARHGAP44 9912 broad.mit.edu 37 17 12883419 12883419 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:12883419G>A uc002gnr.4 + 18 2135 c.1808G>A c.(1807-1809)gGa>gAa p.G603E ARHGAP44_uc010vvk.2_Missense_Mutation_p.G603E|ARHGAP44_uc010vvl.2_Missense_Mutation_p.G597E|ARHGAP44_uc002gns.4_Missense_Mutation_p.G397E|ARHGAP44_uc010vvm.2_Missense_Mutation_p.G597E|ARHGAP44_uc010vvn.2_Intron NM_014859 NP_055674 Q17R89 RHG44_HUMAN Homo sapiens Rho GTPase activating protein 44 (ARHGAP44), mRNA. 603 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1) 31 GCACAGAAAGGAAGTCCAGGC 0.592000 23 7 0 0 0.001984 0 0 SRL 6345 broad.mit.edu 37 16 4242767 4242768 + Missense_Mutation DNP CC TT TT TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr16:4242767_4242768CC>TT uc002cvz.4 - 5 821_822 c.808_809GG>AA c.(808-810)ggg>AAg p.G270K SRL_uc002cvy.4_Non-coding_Transcript NM_001098814 NP_001092284 Q86TD4 SRCA_HUMAN Homo sapiens sarcalumenin (SRL), mRNA. 729 Acidic domain, probably binds calcium (By similarity). sarcoplasmic reticulum lumen GTP binding|GTPase activity p.G270R(2) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3) 21 GAAGAGGGCCCCGTAAACCCGC 0.554000 46 42 0 0 0.004672 0 0 UNC5C 8633 broad.mit.edu 37 4 96199441 96199441 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr4:96199441C>T uc003hto.3 - 3 916 c.563G>A c.(562-564)tGt>tAt p.C188Y UNC5C_uc010ilc.2_Missense_Mutation_p.C188Y|UNC5C_uc003htq.3_Missense_Mutation_p.C188Y NM_003728 NP_003719 O95185 UNC5C_HUMAN Homo sapiens unc-5 homolog C (C. elegans) (UNC5C), mRNA. 188 Ig-like C2-type. apoptosis|axon guidance|brain development integral to membrane netrin receptor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 55 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) AGGTGGTCGACACTGGAGTAA 0.438000 36 24 0 0 0.006320 0 0 DCHS1 8642 broad.mit.edu 37 11 6662256 6662256 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:6662256G>A uc001mem.1 - 1 990 c.589C>T c.(589-591)Ccc>Tcc p.P197S NM_003737 NP_003728 Q96JQ0 PCD16_HUMAN Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA. 197 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCTGGACCGGGGCGTGTCTCC 0.597000 34 31 0 0 0.003271 0 0 SERPINA6 866 broad.mit.edu 37 14 94780716 94780716 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr14:94780716G>A uc001ycv.3 - 1 374 c.270C>T c.(268-270)ctC>ctT p.L90L SERPINA6_uc010auv.3_Non-coding_Transcript NM_001756 NP_001747 P08185 CBG_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 (SERPINA6), mRNA. 90 regulation of proteolysis|transport extracellular space serine-type endopeptidase inhibitor activity|steroid binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 26 all_cancers(154;0.0482)|all_epithelial(191;0.166) COAD - Colon adenocarcinoma(157;0.211) Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620) CCAGGCCCTGGAGAAGCTGGG 0.547000 17 12 0 0 0.001855 0 0 PKN3 29941 broad.mit.edu 37 9 131475654 131475654 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr9:131475654C>T uc004bvw.3 + 7 1473 c.1080C>T c.(1078-1080)atC>atT p.I360I PKN3_uc010myh.3_Silent_p.I360I|PKN3_uc022bom.1_Non-coding_Transcript NM_013355 NP_037487 Q6P5Z2 PKN3_HUMAN Homo sapiens protein kinase N3 (PKN3), mRNA. 360 signal transduction Golgi apparatus|nucleus|perinuclear region of cytoplasm ATP binding|protein binding|protein kinase C activity breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 24 CCTTTGTCATCCCACTGGAGC 0.652000 73 42 0 0 0.008740 0 0 RNF217 154214 broad.mit.edu 37 6 125404058 125404058 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:125404058G>A uc003pzr.3 + 5 1433 c.899G>A c.(898-900)cGa>cAa p.R300Q RNF217_uc003pzs.3_3'UTR|RNF217_uc003pzt.3_Non-coding_Transcript Q8TC41 RN217_HUMAN Homo sapiens ring finger protein 217 (RNF217), mRNA. 110 protein ubiquitination involved in ubiquitin-dependent protein catabolic process integral to membrane ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1) 11 LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828) GBM - Glioblastoma multiforme(226;0.0162) CAGAGAAAACGATCACGGACA 0.393000 12 13 0 0 0.002450 0 0 EPOR 2057 broad.mit.edu 37 19 11489371 11489371 + Missense_Mutation SNP A G G TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:11489371A>G uc002mrj.2 - 6 1046 c.911T>C c.(910-912)tTc>tCc p.F304S EPOR_uc010xly.2_Missense_Mutation_p.F131S|EPOR_uc002mrk.2_Missense_Mutation_p.F131S|EPOR_uc010xlx.2_Non-coding_Transcript NM_000121 NP_000112 P19235 EPOR_HUMAN Homo sapiens erythropoietin receptor (EPOR), transcript variant 1, mRNA. 304 extracellular region|integral to plasma membrane erythropoietin receptor activity|identical protein binding endometrium(1)|lung(2)|ovary(1)|urinary_tract(1) 5 Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016) ACCTACCTGGAAGTTACCCTT 0.562000 49 45 0 0 0.013114 0 0 COL5A3 50509 broad.mit.edu 37 19 10089817 10089817 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:10089817C>T uc002mmq.1 - 38 2951 c.2865G>A c.(2863-2865)gaG>gaA p.E955E NM_015719 NP_056534 P25940 CO5A3_HUMAN Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA. 955 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) CCTTGGCCCCCTCTCTGCCTT 0.582000 25 24 0 0 0.003954 0 0 NBEA 26960 broad.mit.edu 37 13 36006489 36006489 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr13:36006489C>T uc021rid.1 + 38 6797 c.6263C>T c.(6262-6264)tCc>tTc p.S2088F NBEA_uc021ric.1_Missense_Mutation_p.S2085F|NBEA_uc010abi.3_Missense_Mutation_p.S744F NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA. 2088 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) GCATTTGGCTCCACTCATGCT 0.428000 11 7 0 0 0.003080 0 0 LMTK3 114783 broad.mit.edu 37 19 49001418 49001418 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:49001418C>T uc002pjk.3 - 11 2995 c.2995G>A c.(2995-2997)Gag>Aag p.E999K NM_001080434 NP_001073903 Homo sapiens lemur tyrosine kinase 3 (LMTK3), mRNA. breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1) 16 all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231) GCTTTCTCCTCCCTCCTTGGG 0.642000 67 64 0 0 0.014410 0 0 SESN3 143686 broad.mit.edu 37 11 94924756 94924756 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:94924756C>T uc001pfk.1 - 2 376 c.154G>A c.(154-156)Gca>Aca p.A52T SESN3_uc010rug.1_5'UTR|SESN3_uc001pfl.3_Missense_Mutation_p.A52T NM_144665 NP_653266 P58005 SESN3_HUMAN Homo sapiens sestrin 3 (SESN3), mRNA. 52 cell cycle arrest nucleus endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1) 16 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) BRCA - Breast invasive adenocarcinoma(274;0.234) ACTGTGTTTGCTTGGACAACC 0.363000 17 23 0 0 0.002780 0 0 PIGR 5284 broad.mit.edu 37 1 207107923 207107923 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:207107923G>A uc001hez.3 - 5 1731 c.1547C>T c.(1546-1548)gCc>gTc p.A516V PIGR_uc009xbz.3_Missense_Mutation_p.A516V NM_002644 NP_002635 P01833 PIGR_HUMAN Homo sapiens polymeric immunoglobulin receptor (PIGR), mRNA. 516 Ig-like V-type 5. extracellular region|integral to plasma membrane protein binding central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 GTTCACGAAGGCCTTGCTGGG 0.582000 66 34 0 0 0.006999 0 0 AUTS2 26053 broad.mit.edu 37 7 70252365 70252365 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr7:70252365G>A uc003tvw.4 + 17 3214 c.2479G>A c.(2479-2481)Gat>Aat p.D827N AUTS2_uc003tvx.4_Missense_Mutation_p.D803N|AUTS2_uc011keg.2_Missense_Mutation_p.D279N NM_015570 NP_056385 Q8WXX7 AUTS2_HUMAN Homo sapiens autism susceptibility candidate 2 (AUTS2), transcript variant 1, mRNA. 827 breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 50 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) TCATGACAGAGATAGAGATGT 0.582000 10 24 0 0 0.004656 0 0 OR10A2 341276 broad.mit.edu 37 11 6891566 6891566 + Missense_Mutation SNP T G G TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:6891566T>G uc001meu.1 + 0 581 c.581T>G c.(580-582)gTc>gGc p.V194G NM_001004460 NP_001004460 Q9H208 O10A2_HUMAN Homo sapiens olfactory receptor, family 10, subfamily A, member 2 (OR10A2), mRNA. 194 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1) 24 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) ATTCTGGTGGTCATGATCCCC 0.498000 70 72 0 0 0.014410 0 0 FAM3B 54097 broad.mit.edu 37 21 42716438 42716438 + Missense_Mutation SNP G T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr21:42716438G>T uc002yzb.1 + 3 469 c.323G>T c.(322-324)gGa>gTa p.G108V FAM3B_uc002yza.2_Non-coding_Transcript|FAM3B_uc002yzc.1_Missense_Mutation_p.G60V|FAM3B_uc011aeq.2_Missense_Mutation_p.G122V NM_058186 NP_478066 P58499 FAM3B_HUMAN Homo sapiens family with sequence similarity 3, member B (FAM3B), transcript variant 1, mRNA. 108 apoptosis|insulin secretion extracellular space cytokine activity central_nervous_system(2)|endometrium(1)|lung(2) 5 Prostate(19;1.57e-07)|all_epithelial(19;0.0404) GTTGCCAGAGGAATAAACATT 0.433000 10 7 8.12818e-05 8.49831e-05 0.001984 1 0 PRSS48 345062 broad.mit.edu 37 4 152204347 152204347 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr4:152204347C>T uc011cif.2 + 3 560 c.560C>T c.(559-561)cCc>cTc p.P187L PRSS48_uc011cig.2_Missense_Mutation_p.P44L NM_183375 NP_899231 Q7RTY5 PRS48_HUMAN Homo sapiens protease, serine, 48 (PRSS48), mRNA. 187 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1) 8 CTCTACAATCCCATCGGTATC 0.468000 97 64 0 0 0.014410 0 0 PLXNA4 91584 broad.mit.edu 37 7 131872265 131872265 + Silent SNP C A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr7:131872265C>A uc003vra.4 - 14 3187 c.2958G>T c.(2956-2958)gtG>gtT p.V986V NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA. 986 IPT/TIG 2. 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 CAAACATCACCACCACGTTGC 0.562000 166 158 4.3967e-48 4.74519e-48 0.014410 1 0 LRBA 987 broad.mit.edu 37 4 151792567 151792567 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr4:151792567G>A uc010ipj.3 - 18 2541 c.2297C>T c.(2296-2298)tCa>tTa p.S766L LRBA_uc003ilu.4_Missense_Mutation_p.S766L NM_006726 NP_006717 P50851 LRBA_HUMAN Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA. 766 Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 all_hematologic(180;0.151) AGCTAGCAATGAAAACAATCC 0.368000 38 26 0 0 0.008361 0 0 NF1 4763 broad.mit.edu 37 17 29483086 29483087 + Missense_Mutation DNP AC TT TT TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:29483086_29483087AC>TT uc002hgg.3 + 1 529_530 c.146_147AC>TT c.(145-147)tac>tTT p.Y49F NF1_uc002hge.2_Missense_Mutation_p.Y49F|NF1_uc002hgf.2_Missense_Mutation_p.Y49F|NF1_uc002hgh.3_Missense_Mutation_p.Y49F|NF1_uc010csn.2_5'UTR NM_001042492 NP_001035957 P21359 NF1_HUMAN Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA. 49 MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus Ras GTPase activator activity|protein binding p.0?(8)|p.?(3) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) ATTTCCAAATACAAGTTTTCTT 0.337000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 38 17 0 0 0.004672 0 0 NCAM1 4684 broad.mit.edu 37 11 113078697 113078697 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:113078697G>A uc021qqp.1 + 6 1255 c.883G>A c.(883-885)Gat>Aat p.D295N NCAM1_uc001pno.3_Missense_Mutation_p.D179N|NCAM1_uc001pnp.3_Missense_Mutation_p.D295N|NCAM1_uc021qqo.1_Missense_Mutation_p.D295N|NCAM1_uc001pnq.3_Missense_Mutation_p.D295N|NCAM1_uc001pnr.3_Missense_Mutation_p.D295N NM_001242607 NP_001229536 P13591 NCAM1_HUMAN Homo sapiens neural cell adhesion molecule 1 (NCAM1), transcript variant 5, mRNA. 297 Ig-like C2-type 3. axon guidance|interferon-gamma-mediated signaling pathway Golgi membrane|anchored to membrane|extracellular region|integral to membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 49 all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212) TGGCGAGCAGGATGCGACCAT 0.532000 15 5 0 0 0.000602 0 0 ANO4 121601 broad.mit.edu 37 12 101477456 101477456 + Splice_Site SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:101477456G>A uc010svm.1 + 16 1968 c.1396_splice c.e16-1 p.E466_splice ANO4_uc001thw.2_Splice_Site_p.E431_splice|ANO4_uc001thx.2_Splice_Site_p.E466_splice|ANO4_uc001thy.2_Intron NM_178826 NP_849148 Q32M45 ANO4_HUMAN Homo sapiens anoctamin 4 (ANO4), mRNA. 466 Poly-Glu. 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 TGTCCTTTAGGAAGAAATACG 0.378000 HNSCC(74;0.22) 43 26 0 0 0.005443 0 0 COL3A1 1281 broad.mit.edu 37 2 189861125 189861125 + Splice_Site SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:189861125G>A uc002uqj.1 + 24 1780 c.1663_splice c.e24-1 p.G555_splice NM_000090 NP_000081 P02461 CO3A1_HUMAN Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA. 555 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) TCTTATTAGGGAAGTCAAGGA 0.423000 28 12 0 0 0.013537 0 0 TSKS 60385 broad.mit.edu 37 19 50247522 50247522 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:50247522G>A uc002ppm.3 - 7 1338 c.1327C>T c.(1327-1329)Cgg>Tgg p.R443W NM_021733 NP_068379 Q9UJT2 TSKS_HUMAN Homo sapiens testis-specific serine kinase substrate (TSKS), mRNA. 443 protein binding breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3) 38 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145) TGGTGGGACCGATCCAGGTTC 0.592000 32 27 0 0 0.004656 0 0 ZNF229 7772 broad.mit.edu 37 19 44932600 44932600 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:44932600G>A uc002oze.1 - 5 2790 c.2356C>T c.(2356-2358)Cat>Tat p.H786Y ZNF229_uc010ejk.1_Missense_Mutation_p.H440Y|ZNF229_uc010ejl.1_Missense_Mutation_p.H780Y NM_014518 NP_055333 Q9UJW7 ZN229_HUMAN Homo sapiens zinc finger protein 229 (ZNF229), mRNA. 786 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 45 Prostate(69;0.0352) ACTCTCTGATGAACATGAAGA 0.502000 35 23 0 0 0.014323 0 0 DCC 1630 broad.mit.edu 37 18 51025846 51025846 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr18:51025846G>A uc002lfe.2 + 26 4693 c.4077G>A c.(4075-4077)ccG>ccA p.P1359P DCC_uc010dpf.2_Silent_p.P992P NM_005215 NP_005206 P43146 DCC_HUMAN Homo sapiens deleted in colorectal carcinoma (DCC), mRNA. 1359 apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) CAATAGAACCGAAAGTCCCTT 0.448000 57 36 0 0 0.005524 0 0 EP300 2033 broad.mit.edu 37 22 41572330 41572331 + Missense_Mutation DNP CC TT TT TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr22:41572330_41572331CC>TT uc003azl.4 + 29 5254_5255 c.4859_4860CC>TT c.(4858-4860)ccc>cTT p.P1620L NM_001429 NP_001420 Q09472 EP300_HUMAN Homo sapiens E1A binding protein p300 (EP300), mRNA. 1620 Binding region for E1A adenovirus. DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|N-terminal peptidyl-lysine acetylation|apoptosis|cell cycle|histone H4 acetylation|interspecies interaction between organisms|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex DNA binding|RNA polymerase II activating transcription factor binding|androgen receptor binding|beta-catenin binding|histone acetyltransferase activity|transcription coactivator activity|zinc ion binding NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 CCTCTCATCCCCTGCGATCTGA 0.550000 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 75 39 0 0 0.004672 0 0 NTRK1 4914 broad.mit.edu 37 1 156849090 156849090 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:156849090G>A uc001fqh.1 + 14 2038 c.1982G>A c.(1981-1983)gGa>gAa p.G661E NTRK1_uc001fqf.1_Missense_Mutation_p.G625E|NTRK1_uc009wsi.1_Missense_Mutation_p.G360E|NTRK1_uc001fqi.1_Missense_Mutation_p.G655E|NTRK1_uc009wsk.1_Missense_Mutation_p.G658E NM_002529 NP_002520 P04629 NTRK1_HUMAN Homo sapiens neurotrophic tyrosine kinase, receptor, type 1 (NTRK1), transcript variant 2, mRNA. 661 Protein kinase. Ras protein signal transduction|activation of MAPKK activity|activation of adenylate cyclase activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling endosome|integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) Imatinib(DB00619) GTGGGCCAGGGACTGGTGGTC 0.587000 T """TPM3, TPR, TFG""" papillary thyroid TSP Lung(10;0.080) 38 32 0 0 0.010818 0 0 MASP2 10747 broad.mit.edu 37 1 11106674 11106674 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:11106674G>A uc001aru.3 - 2 383 c.351C>T c.(349-351)ttC>ttT p.F117F MASP2_uc001arv.3_Silent_p.F117F|MASP2_uc001arw.3_Silent_p.F117F|MASP2_uc001arx.2_Silent_p.F117F NM_006610 NP_006601 O00187 MASP2_HUMAN Homo sapiens mannan-binding lectin serine peptidase 2 (MASP2), transcript variant 1, mRNA. 117 CUB 1. complement activation, classical pathway|complement activation, lectin pathway|proteolysis extracellular region calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 Ovarian(185;0.249) Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.071) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192) AGTCGGAGCGGAAGGTAATGT 0.627000 2 25 0 0 0.003330 0 0 KLHL32 114792 broad.mit.edu 37 6 97587033 97587033 + Missense_Mutation SNP T A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:97587033T>A uc010kcm.1 + 10 2210 c.1738T>A c.(1738-1740)Ttc>Atc p.F580I KLHL32_uc003poz.2_Missense_Mutation_p.F136I|KLHL32_uc011ead.1_Missense_Mutation_p.F544I|KLHL32_uc011eae.1_Missense_Mutation_p.F511I|KLHL32_uc003ppa.2_Non-coding_Transcript|MIR548H3_uc021zda.1_Intron NM_052904 NP_443136 Q96NJ5 KLH32_HUMAN Homo sapiens kelch-like 32 (Drosophila) (KLHL32), mRNA. 580 breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 38 all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122) BRCA - Breast invasive adenocarcinoma(108;0.0558) AGAAGAAGTATTCTATGGGCC 0.413000 51 52 0 0 0.014410 0 0 GABRG2 2566 broad.mit.edu 37 5 161580138 161580138 + Nonsense_Mutation SNP C T T rs121909674 TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr5:161580138C>T uc010jjc.3 + 10 1670 c.1312C>T c.(1312-1314)Caa>Taa p.Q438* GABRG2_uc003lyy.4_Nonsense_Mutation_p.Q398*|GABRG2_uc003lyz.4_Nonsense_Mutation_p.Q390*|GABRG2_uc011dej.2_Nonsense_Mutation_p.Q295* NM_198903 NP_944493 P18507 GBRG2_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 2 (GABRG2), transcript variant 3, mRNA. 390 Interaction with GABARAP (Potential). IA -> RI (in Ref. 4; no nucleotide entry). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|protein binding NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 62 Renal(175;0.000319) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136) AGCAACCATTCAAATGAATAA 0.483000 9 40 0 0 0.006230 0 0 NBEA 26960 broad.mit.edu 37 13 36046664 36046664 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr13:36046664C>T uc021rid.1 + 40 7110 c.6576C>T c.(6574-6576)atC>atT p.I2192I NBEA_uc021ric.1_Silent_p.I2189I|NBEA_uc010abi.3_Silent_p.I848I|NBEA_uc010tee.1_5'UTR NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA. 2192 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) TCAAGAAGATCGACACGAAAG 0.478000 22 20 0 0 0.010504 0 0 NDRG1 10397 broad.mit.edu 37 8 134256628 134256628 + Silent SNP C T T rs150101908 by1000genomes TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr8:134256628C>T uc003yuh.2 - 13 1447 c.861G>A c.(859-861)gcG>gcA p.A287A NDRG1_uc003yue.1_Silent_p.A2A|NDRG1_uc003yuf.1_Silent_p.A98A|NDRG1_uc003yug.2_Silent_p.A287A|NDRG1_uc010mee.2_Silent_p.A206A|NDRG1_uc010mef.2_Silent_p.A221A|NDRG1_uc011ljh.1_Silent_p.A115A|NDRG1_uc011lji.1_Silent_p.A34A|NDRG1_uc003yui.1_5'Flank NM_001135242 NP_006087 Q92597 NDRG1_HUMAN Homo sapiens N-myc downstream regulated 1 (NDRG1), transcript variant 1, mRNA. 287 cellular response to hypoxia|response to metal ion cytoplasm|microtubule cytoskeleton|nucleus|plasma membrane protein binding NDRG1/ERG(5) endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(4)|prostate(1)|skin(1) 17 all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0107) CGCCACAGTCCGCCATCTAGG 0.577000 T ERG prostate 20 16 0 0 0.004990 0 0 ZNF714 148206 broad.mit.edu 37 19 21300609 21300609 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:21300609C>T uc002npo.4 + 4 1517 c.1139C>T c.(1138-1140)tCc>tTc p.S380F ZNF714_uc002npl.3_Missense_Mutation_p.S226F|ZNF714_uc002npn.3_Non-coding_Transcript|ZNF714_uc010ecp.2_Non-coding_Transcript|ZNF714_uc021urp.1_5'Flank NM_182515 NP_872321 Q96N38 ZN714_HUMAN Homo sapiens zinc finger protein 714 (ZNF714), mRNA. 381 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|lung(11)|urinary_tract(2) 18 TTTAACCACTCCTCAAAACTT 0.358000 13 8 0 0 0.006214 0 0 ZNF92 168374 broad.mit.edu 37 7 64864771 64864771 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr7:64864771G>A uc003ttz.3 + 3 1887 c.1744G>A c.(1744-1746)Gag>Aag p.E582K ZNF92_uc003tua.3_Missense_Mutation_p.E513K|ZNF92_uc010kzu.3_Missense_Mutation_p.E550K|ZNF92_uc003tub.3_Missense_Mutation_p.E506K|ZNF92_uc022afd.1_Non-coding_Transcript NM_152626 NP_009070 Q03936 ZNF92_HUMAN Homo sapiens zinc finger protein 92 (ZNF92), transcript variant 2, mRNA. 582 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1) 13 Lung NSC(55;0.159) TTATACTAAAGAGAAACTACA 0.348000 48 22 0 0 0.003330 0 0 STAT4 6775 broad.mit.edu 37 2 192012849 192012849 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:192012849G>A uc002usm.2 - 1 396 c.81C>T c.(79-81)ccC>ccT p.P27P STAT4_uc010zgm.1_Non-coding_Transcript|STAT4_uc010zgn.1_Non-coding_Transcript|STAT4_uc010zgo.1_Non-coding_Transcript|STAT4_uc002usn.2_Silent_p.P27P|STAT4_uc002uso.2_Silent_p.P27P|STAT4_uc002usp.4_Silent_p.P27P|STAT4_uc010zgl.2_Silent_p.P27P NM_003151 NP_003142 Q14765 STAT4_HUMAN Homo sapiens signal transducer and activator of transcription 4 (STAT4), transcript variant 1, mRNA. 27 JAK-STAT cascade cytoplasm|nucleus calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204) GAATTTCCATGGGAAAGTTGT 0.393000 30 30 0 0 0.007291 0 0 ST14 6768 broad.mit.edu 37 11 130060463 130060463 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:130060463G>A uc001qfw.3 + 6 942 c.749G>A c.(748-750)gGg>gAg p.G250E ST14_uc010sca.1_Missense_Mutation_p.G60E NM_021978 NP_068813 Q9Y5Y6 ST14_HUMAN Homo sapiens suppression of tumorigenicity 14 (colon carcinoma) (ST14), mRNA. 250 CUB 1. proteolysis integral to plasma membrane serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3) 32 all_hematologic(175;0.0429) Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228) Urokinase(DB00013) GCCCTGCGGGGGGACGCCGAC 0.697000 18 18 0 0 0.010504 0 0 CIZ1 25792 broad.mit.edu 37 9 130931699 130931699 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr9:130931699C>T uc011mas.2 - 13 2464 c.2299G>A c.(2299-2301)Gac>Aac p.D767N CIZ1_uc004btr.3_Missense_Mutation_p.D683N|CIZ1_uc004bts.3_Missense_Mutation_p.D682N|CIZ1_uc011maq.2_Missense_Mutation_p.D650N|CIZ1_uc004btu.3_Missense_Mutation_p.D631N|CIZ1_uc004btt.3_Missense_Mutation_p.D711N|CIZ1_uc011mar.2_Missense_Mutation_p.D610N|CIZ1_uc004btw.3_Missense_Mutation_p.D655N|CIZ1_uc004btv.3_Missense_Mutation_p.D711N NM_012127 NP_036259 Q9ULV3 CIZ1_HUMAN Homo sapiens CDKN1A interacting zinc finger protein 1 (CIZ1), transcript variant 1, mRNA. 711 nucleus nucleic acid binding|protein binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2) 35 TTGGCTTTGTCCTTATGCCCC 0.542000 22 19 0 0 0.012319 0 0 RAN 5901 broad.mit.edu 37 12 131359257 131359257 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:131359257C>T uc001uis.3 + 3 770 c.474C>T c.(472-474)ttC>ttT p.F158F RAN_uc001uir.3_Silent_p.F138F|RAN_uc010tbk.2_Silent_p.F50F|RAN_uc010tbl.2_Silent_p.F50F NM_006325 NP_006316 P62826 RAN_HUMAN Homo sapiens RAN, member RAS oncogene family (RAN), mRNA. 138 DNA metabolic process|RNA export from nucleus|androgen receptor signaling pathway|cell division|mitosis|mitotic spindle organization|positive regulation of transcription, DNA-dependent|protein export from nucleus|viral genome transport in host cell|viral infectious cycle cytosol|melanosome|nuclear pore|nucleoplasm GTP binding|GTPase activity|androgen receptor binding|chromatin binding|transcription coactivator activity cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2) 9 all_neural(191;0.0982)|Medulloblastoma(191;0.163) Lung NSC(355;7.46e-07)|all_epithelial(31;7.36e-06) OV - Ovarian serous cystadenocarcinoma(86;9.18e-49)|Epithelial(86;1.42e-45)|all cancers(50;6.28e-40) CCATTGTCTTCCACCGAAAGA 0.383000 25 21 0 0 0.012319 0 0 RAVER1 125950 broad.mit.edu 37 19 10433932 10433932 + Nonsense_Mutation SNP C A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:10433932C>A uc002moa.3 - 4 1098 c.1018G>T c.(1018-1020)Gga>Tga p.G340* NM_133452 NP_597709 Q8IY67 RAVR1_HUMAN Homo sapiens ribonucleoprotein, PTB-binding 1 (RAVER1), mRNA. 323 Interaction with PTBP1 (By similarity). cytoplasm|nucleus RNA binding|nucleotide binding|protein binding breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 18 OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06) GGGAGGAGTCCCTTCCCCCGA 0.672000 30 14 1.5739e-10 1.66189e-10 0.004007 1 0 CDH16 1014 broad.mit.edu 37 16 66948226 66948226 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr16:66948226C>T uc002eql.3 - 6 867 c.673G>A c.(673-675)Gcc>Acc p.A225T CDH16_uc010cdy.3_Missense_Mutation_p.A225T|CDH16_uc021tjx.1_Missense_Mutation_p.A225T|CDH16_uc002eqm.3_Missense_Mutation_p.A128T NM_004062 NP_004053 O75309 CAD16_HUMAN Homo sapiens cadherin 16, KSP-cadherin (CDH16), transcript variant 1, mRNA. 225 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) GTGGCAGTGGCCTGGTGGCCT 0.587000 52 39 0 0 0.006999 0 0 CDC42BPG 55561 broad.mit.edu 37 11 64599096 64599096 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:64599096C>T uc001obs.4 - 27 3185 c.3185G>A c.(3184-3186)gGt>gAt p.G1062D NM_017525 NP_059995 Q6DT37 MRCKG_HUMAN Homo sapiens CDC42 binding protein kinase gamma (DMPK-like) (CDC42BPG), mRNA. 1062 PH. actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|centrosome ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity central_nervous_system(1)|lung(3) 4 CTGCAGCTCACCCAGCACCTG 0.687000 OREG0004016 type=REGULATORY REGION|Gene=CDC42BPG|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 14 24 0 0 0.005443 0 0 USP29 57663 broad.mit.edu 37 19 57641439 57641439 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:57641439C>T uc002qny.3 + 3 1752 c.1396C>T c.(1396-1398)Cct>Tct p.P466S USP29_uc021vci.1_Missense_Mutation_p.P466S NM_020903 NP_065954 Q9HBJ7 UBP29_HUMAN Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA. 466 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) AAAACCACTTCCTTTGTCCAT 0.383000 50 40 0 0 0.004878 0 0 CNGB3 54714 broad.mit.edu 37 8 87738790 87738790 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr8:87738790C>T uc003ydx.3 - 2 355 c.307G>A c.(307-309)Gaa>Aaa p.E103K NM_019098 NP_061971 Q9NQW8 CNGB3_HUMAN Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA. 103 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 GGGTCCATTTCCTTCTGCTCT 0.438000 140 109 0 0 0.014410 0 0 BTBD3 22903 broad.mit.edu 37 20 11903873 11903874 + Missense_Mutation DNP CC TT TT TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr20:11903873_11903874CC>TT uc002wnz.3 + 3 1487_1488 c.1128_1129CC>TT c.(1126-1131)caccgt>caTTgt p.R377C BTBD3_uc002wny.3_Missense_Mutation_p.R316C|BTBD3_uc002woa.3_Missense_Mutation_p.R316C|BTBD3_uc010zrf.2_Missense_Mutation_p.R226C|BTBD3_uc010zrg.2_Missense_Mutation_p.R226C|BTBD3_uc010zrh.2_Missense_Mutation_p.R226C NM_014962 NP_852108 Q9Y2F9 BTBD3_HUMAN Homo sapiens BTB (POZ) domain containing 3 (BTBD3), transcript variant 1, mRNA. 377 breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2) 34 AGCGCTGTCACCGTTTCCAGTC 0.510000 30 20 0 0 0.004672 0 0 LRP1B 53353 broad.mit.edu 37 2 141773438 141773438 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:141773438C>T uc002tvj.1 - 12 2989 c.2017G>A c.(2017-2019)Gtg>Atg p.V673M LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA. 673 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding p.V673L(2) NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ATCCTTCCCACGCTGTCATCT 0.413000 TSP Lung(27;0.18) 32 25 0 0 0.006320 0 0 NTRK2 4915 broad.mit.edu 37 9 87636271 87636271 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr9:87636271G>A uc004aoa.1 + 19 3326 c.2388G>A c.(2386-2388)atG>atA p.M796I NTRK2_uc004anz.1_Missense_Mutation_p.M812I NM_001018064 NP_001018074 Q16620 NTRK2_HUMAN Homo sapiens neurotrophic tyrosine kinase, receptor, type 2 (NTRK2), transcript variant c, mRNA. 796 Protein kinase. activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 46 AGCCCCACATGAGGAAGAACA 0.597000 TSP Lung(25;0.17) 43 26 0 0 0.006320 0 0 DMBT1 1755 broad.mit.edu 37 10 124402799 124402799 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr10:124402799G>A uc001lgk.1 + 52 7233 c.7127G>A c.(7126-7128)cGa>cAa p.R2376Q DMBT1_uc001lgl.1_Missense_Mutation_p.R2366Q|DMBT1_uc001lgm.1_Missense_Mutation_p.R1748Q|DMBT1_uc021qaf.1_Missense_Mutation_p.R2376Q|DMBT1_uc021qag.1_Missense_Mutation_p.R2366Q|DMBT1_uc021qah.1_Missense_Mutation_p.R1748Q|DMBT1_uc009xzz.1_Missense_Mutation_p.R2375Q|DMBT1_uc010qtx.1_Missense_Mutation_p.R1096Q|DMBT1_uc009yab.1_Missense_Mutation_p.R1079Q|DMBT1_uc009yac.1_Missense_Mutation_p.R670Q NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA. 2376 ZP. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) CGCTGCTACCGAGGCTGTGTG 0.607000 50 42 0 0 0.008740 0 0 TRPM6 140803 broad.mit.edu 37 9 77377697 77377697 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr9:77377697C>T uc004ajl.1 - 25 4128 c.3890G>A c.(3889-3891)aGg>aAg p.R1297K TRPM6_uc004ajk.1_Missense_Mutation_p.R1292K|TRPM6_uc022bib.1_Missense_Mutation_p.R1292K|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Missense_Mutation_p.R253K NM_017662 NP_060132 Q9BX84 TRPM6_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA. 1297 response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity p.A1299fs*15(1) NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 AAGTGCCCCCCTCTGCACTCT 0.478000 89 70 0 0 0.014410 0 0 PAPPA 5069 broad.mit.edu 37 9 119158854 119158854 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr9:119158854G>A uc004bjn.3 + 21 5224 c.4843G>A c.(4843-4845)Gaa>Aaa p.E1615K PAPPA_uc011lxq.2_Missense_Mutation_p.E990K NM_002581 NP_002572 Q13219 PAPP1_HUMAN Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA. 1615 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 CCAGGCCCAAGAACACAGCCG 0.517000 75 39 0 0 0.005524 0 0 OR5L2 26338 broad.mit.edu 37 11 55595333 55595333 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:55595333C>T uc001nhy.1 + 0 639 c.639C>T c.(637-639)atC>atT p.I213I NM_001004739 NP_001004739 Q8NGL0 OR5L2_HUMAN Homo sapiens olfactory receptor, family 5, subfamily L, member 2 (OR5L2), mRNA. 213 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 all_epithelial(135;0.208) CCATCATGATCATCCTCACCT 0.498000 HNSCC(27;0.073) 47 50 0 0 0.014410 0 0 LCP1 3936 broad.mit.edu 37 13 46721144 46721144 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr13:46721144C>T uc001vaz.4 - 9 1199 c.1073G>A c.(1072-1074)gGg>gAg p.G358E LCP1_uc001vay.4_5'Flank|LCP1_uc001vba.4_Missense_Mutation_p.G358E NM_002298 NP_002289 P13796 PLSL_HUMAN Homo sapiens lymphocyte cytosolic protein 1 (L-plastin) (LCP1), mRNA. 358 Actin-binding 1.|CH 2. T cell activation involved in immune response|regulation of intracellular protein transport cell junction|cytosol|ruffle membrane calcium ion binding breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1) 34 Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;5.39e-05) CTTGGGGTTCCCTCGGACAAC 0.542000 T BCL6 NHL 44 38 0 0 0.004878 0 0 SUPT16H 11198 broad.mit.edu 37 14 21827667 21827667 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr14:21827667G>A uc001wao.2 - 18 2616 c.2277C>T c.(2275-2277)gaC>gaT p.D759D SUPT16H_uc001wan.2_5'Flank NM_007192 NP_009123 Q9Y5B9 SP16H_HUMAN Homo sapiens suppressor of Ty 16 homolog (S. cerevisiae) (SUPT16H), mRNA. 759 DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|nucleoplasm GTP binding breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_cancers(95;0.00115) Epithelial(56;1.62e-06)|all cancers(55;1.49e-05) GBM - Glioblastoma multiforme(265;0.0159) GGTCATCTCGGTCATGCATAT 0.463000 49 29 0 0 0.007291 0 0 PRF1 5551 broad.mit.edu 37 10 72358251 72358252 + Missense_Mutation DNP GG AA AA TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr10:72358251_72358252GG>AA uc009xqg.3 - 2 1386_1387 c.1225_1226CC>TT c.(1225-1227)cct>TTt p.P409F PRF1_uc001jrf.4_Missense_Mutation_p.P409F NM_001083116 NP_005032 P14222 PERF_HUMAN Homo sapiens perforin 1 (pore forming protein) (PRF1), transcript variant 2, mRNA. 409 apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane calcium ion binding|protein binding|wide pore channel activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3) 23 CCTCTGCCGAGGGCAGCAGTCC 0.668000 M """various leukaemia, lymphoma""" Type 2 familial hemophagocytic lymphohistiocytosis Familial Hemophagocytic Lymphohistiocytosis 19 14 0 0 0.004672 0 0 ACTL8 81569 broad.mit.edu 37 1 18152483 18152483 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:18152483G>A uc001bat.3 + 2 786 c.570G>A c.(568-570)aaG>aaA p.K190K NM_030812 NP_110439 Q9H568 ACTL8_HUMAN Homo sapiens actin-like 8 (ACTL8), mRNA. 190 cytoplasm|cytoskeleton NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 28 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201) GTCTCTTTAAGGAAGATTGCG 0.602000 OREG0013157 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 39 0 0 0.007835 0 0 C3orf17 25871 broad.mit.edu 37 3 112729989 112729989 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:112729989G>A uc003dzr.3 - 5 877 c.816C>T c.(814-816)acC>acT p.T272T C3orf17_uc011bia.2_Silent_p.T69T|C3orf17_uc003dzu.3_Silent_p.T201T|C3orf17_uc011bib.2_Silent_p.T161T|C3orf17_uc011bic.2_Silent_p.T105T|C3orf17_uc011bid.2_Non-coding_Transcript|C3orf17_uc011bhz.2_Intron|C3orf17_uc003dzt.3_Silent_p.T175T|C3orf17_uc003dzs.3_Silent_p.T136T|C3orf17_uc010hqg.3_Silent_p.T97T NM_015412 NP_056227 Q6NW34 CC017_HUMAN Homo sapiens chromosome 3 open reading frame 17 (C3orf17), transcript variant 1, mRNA. 272 integral to membrane central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1) 13 TTCCAAGCAAGGTTTCTTCAC 0.323000 23 15 0 0 0.002450 0 0 COL4A5 1287 broad.mit.edu 37 X 107807133 107807133 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chrX:107807133C>T uc022ccg.1 + 3 455 c.253C>T c.(253-255)Cca>Tca p.P85S COL4A5_uc004enz.1_Missense_Mutation_p.P85S NM_033380 NP_203699 P29400 CO4A5_HUMAN Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA. 85 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding p.P85T(2) 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 AATTCCAGGGCCACCAGGACC 0.328000 Alport syndrome with Diffuse Leiomyomatosis 2 9 0 0 0.008291 0 0 TRHDE 29953 broad.mit.edu 37 12 72956810 72956810 + Nonsense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:72956810C>T uc001sxa.3 + 8 1927 c.1897C>T c.(1897-1899)Cag>Tag p.Q633* NM_013381 NP_037513 Q9UKU6 TRHDE_HUMAN Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA. 633 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 ACTTAAACTTCAGAATAACAG 0.274000 50 47 0 0 0.014410 0 0 ALPK1 80216 broad.mit.edu 37 4 113362185 113362185 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr4:113362185C>T uc003ian.4 + 14 3878 c.3651C>T c.(3649-3651)ttC>ttT p.F1217F ALPK1_uc003iap.4_Silent_p.F1217F|ALPK1_uc011cfx.2_Silent_p.F1139F|ALPK1_uc003iao.4_Non-coding_Transcript|ALPK1_uc010imo.3_Silent_p.F1045F NM_001102406 NP_079420 Q96QP1 ALPK1_HUMAN Homo sapiens alpha-kinase 1 (ALPK1), transcript variant 2, mRNA. 1217 Alpha-type protein kinase. ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1) 53 Ovarian(17;0.0446)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00325) TTTTTTACTTCTTTAATAACC 0.383000 54 53 0 0 0.014410 0 0 SLC22A25 387601 broad.mit.edu 37 11 62933578 62933578 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:62933578C>T uc001nwr.1 - 6 1223 c.1223G>A c.(1222-1224)aGc>aAc p.S408N SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_Non-coding_Transcript|SLC22A25_uc001nws.1_Non-coding_Transcript|SLC22A25_uc001nwt.1_3'UTR NM_199352 NP_955384 Q6T423 S22AP_HUMAN Homo sapiens solute carrier family 22, member 25 (SLC22A25), mRNA. 408 transmembrane transport integral to membrane p.S408S(1) NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7) 34 AAGCATCTGGCTTAGTCGACG 0.478000 26 19 0 0 0.007413 0 0 PIK3R4 30849 broad.mit.edu 37 3 130452686 130452686 + Missense_Mutation SNP G T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:130452686G>T uc003enj.3 - 3 1737 c.1156C>A c.(1156-1158)Cta>Ata p.L386I NM_014602 NP_055417 Q99570 PI3R4_HUMAN Homo sapiens phosphoinositide-3-kinase, regulatory subunit 4 (PIK3R4), mRNA. 386 fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway cytosol ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 77 AGGGTCTGTAGGCAGGATGTT 0.403000 73 42 1.57019e-19 1.67611e-19 0.007835 1 0 FAT3 120114 broad.mit.edu 37 11 92085899 92085899 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:92085899C>T uc001pdj.4 + 0 638 c.621C>T c.(619-621)caC>caT p.H207H NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA. 207 Cadherin 2. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TTTCAGTTCACCCCACGAGTG 0.408000 TCGA Ovarian(4;0.039) 250 205 0 0 0.014410 0 0 RAD51B 5890 broad.mit.edu 37 14 68934942 68934942 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr14:68934942C>T uc001xkf.2 + 9 1088 c.1011C>T c.(1009-1011)atC>atT p.I337I RAD51B_uc001xkd.3_Silent_p.I337I|RAD51B_uc010aqr.3_Silent_p.I218I|RAD51B_uc001xke.3_Silent_p.I337I|RAD51B_uc001xkg.2_Silent_p.I337I NM_133509 NP_598193 O15315 RA51B_HUMAN Homo sapiens RAD51 homolog B (S. cerevisiae) (RAD51B), transcript variant 3, mRNA. 337 DNA repair|blood coagulation|reciprocal meiotic recombination nucleoplasm ATP binding|DNA binding|DNA-dependent ATPase activity HMGA2/RAD51B(11) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 11 TCTACACCATCAAGGAGGAAG 0.438000 Direct reversal of damage 91 60 0 0 0.014410 0 0 FYB 2533 broad.mit.edu 37 5 39202457 39202457 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr5:39202457C>T uc003jls.3 - 0 673 c.606G>A c.(604-606)ccG>ccA p.P202P FYB_uc003jlt.3_Silent_p.P202P|FYB_uc003jlu.3_Silent_p.P202P|FYB_uc011cpl.2_Silent_p.P212P NM_199335 NP_955367 O15117 FYB_HUMAN Homo sapiens FYN binding protein (FYB), transcript variant 2, mRNA. 202 NLS-bearing substrate import into nucleus|T cell receptor signaling pathway|cell junction assembly|immune response|intracellular protein kinase cascade|protein phosphorylation cytosol|nucleus protein binding endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1) 45 all_lung(31;0.000343) Epithelial(62;0.235) TACTTAGGGGCGGCTTCTGGC 0.522000 11 41 0 0 0.007835 0 0 CTAGE6P 340307 broad.mit.edu 37 7 143453510 143453510 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr7:143453510C>T uc003wdk.4 - 0 1334 c.1242G>A c.(1240-1242)gaG>gaA p.E414E FAM115C_uc011ktn.1_Intron|FAM115C_uc011kto.2_Intron|FAM115C_uc011ktp.2_Intron|FAM115C_uc011ktq.1_Intron|FAM115C_uc011ktr.1_Intron|FAM115C_uc011kts.1_Intron|FAM115C_uc003wdj.1_Intron NM_178561 NP_848656 Q86UF2 CTGE6_HUMAN Homo sapiens CTAGE family, member 6, pseudogene (CTAGE6P), mRNA. 414 integral to membrane TAGAAAGCTTCTCTTCTTCCT 0.373000 124 34 0 0 0.012213 0 0 TNFRSF14 8764 broad.mit.edu 37 1 2494649 2494649 + Missense_Mutation SNP C G G rs143633292 by1000genomes TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:2494649C>G uc001ajr.3 + 7 1088 c.789C>G c.(787-789)gaC>gaG p.D263E TNFRSF14_uc001ajt.1_3'UTR NM_003820 NP_003811 Q92956 TNR14_HUMAN Homo sapiens tumor necrosis factor receptor superfamily, member 14 (TNFRSF14), mRNA. 263 T cell costimulation|immune response|interspecies interaction between organisms tumor necrosis factor receptor activity kidney(1) 1 all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;1.11e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000326)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.199) CCCCTCCGGACGTCACCACGG 0.622000 """Mis, N, F""" follicular lymphoma 10 65 0 0 0.014410 0 0 FAT4 79633 broad.mit.edu 37 4 126372430 126372430 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr4:126372430G>A uc003ifj.4 + 8 10259 c.10259G>A c.(10258-10260)gGa>gAa p.G3420E FAT4_uc011cgp.2_Missense_Mutation_p.G1718E|FAT4_uc003ifi.1_Missense_Mutation_p.G898E NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA. 3420 Cadherin 33. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 GTCCCAATAGGAACTCATGTG 0.463000 52 33 0 0 0.004289 0 0 GRIP2 80852 broad.mit.edu 37 3 14554361 14554361 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:14554361G>A uc021wtn.1 - 15 1932 c.1932C>T c.(1930-1932)tcC>tcT p.S644S GRIP2_uc010heh.3_Non-coding_Transcript NM_001080423 NP_001073892 Q9C0E4 GRIP2_HUMAN Homo sapiens glutamate receptor interacting protein 2 (GRIP2), mRNA. 548 synaptic transmission cytosol|plasma membrane protein binding endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 25 TTGGGATGACGGACTCTGGGG 0.612000 39 23 0 0 0.003954 0 0 NPAS2 4862 broad.mit.edu 37 2 101604668 101604668 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:101604668C>T uc010yvt.1 + 16 1954 c.1952C>T c.(1951-1953)cCa>cTa p.P651L NPAS2_uc002tap.1_Missense_Mutation_p.P586L|NPAS2_uc010fit.1_Intron NM_002518 NP_002509 Q99743 NPAS2_HUMAN Homo sapiens neuronal PAS domain protein 2 (NPAS2), mRNA. 586 central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process transcription factor complex DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CCCCAACTTCCAGGGCAGATC 0.592000 42 37 0 0 0.003271 0 0 CNOT1 23019 broad.mit.edu 37 16 58585169 58585169 + Missense_Mutation SNP A T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr16:58585169A>T uc002env.3 - 23 3502 c.3209T>A c.(3208-3210)aTt>aAt p.I1070N CNOT1_uc002enw.3_Non-coding_Transcript|CNOT1_uc002enu.4_Missense_Mutation_p.I1065N|CNOT1_uc002enx.3_Missense_Mutation_p.I1070N|CNOT1_uc002enz.1_Missense_Mutation_p.I499N|CNOT1_uc010vik.2_Missense_Mutation_p.I66N|SNORA46_uc002eny.1_5'Flank NM_016284 NP_057368 A5YKK6 CNOT1_HUMAN Homo sapiens CCR4-NOT transcription complex, subunit 1 (CNOT1), transcript variant 1, mRNA. 1070 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 87 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) TGTAGTATTAATAGAAGGCTA 0.303000 59 61 0 0 0.014410 0 0 ODZ3 55714 broad.mit.edu 37 4 183600840 183600840 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr4:183600840G>A uc003ivd.1 + 6 1423 c.1348G>A c.(1348-1350)Gat>Aat p.D450N ODZ3_uc003ive.1_5'Flank NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA. 450 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) GGAGCTCCTGGATGGCAGCAG 0.537000 37 30 0 0 0.009535 0 0 C6 729 broad.mit.edu 37 5 41176592 41176592 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr5:41176592C>T uc003jmk.2 - 7 1363 c.1153G>A c.(1153-1155)Gaa>Aaa p.E385K C6_uc003jml.1_Missense_Mutation_p.E385K|RN7SK_uc021xxu.1_5'Flank NM_000065 NP_001108603 P13671 CO6_HUMAN Homo sapiens complement component 6 (C6), transcript variant 1, mRNA. 385 MACPF. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) TTCTTTAGTTCCTCACTGCTA 0.393000 1 12 0 0 0.010729 0 0 SCIN 85477 broad.mit.edu 37 7 12666342 12666342 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr7:12666342C>T uc003ssn.4 + 7 1325 c.1115C>T c.(1114-1116)cCc>cTc p.P372L SCIN_uc010ktt.3_Non-coding_Transcript|SCIN_uc003sso.4_Missense_Mutation_p.P125L NM_001112706 NP_149119 Q9Y6U3 ADSV_HUMAN Homo sapiens scinderin (SCIN), transcript variant 1, mRNA. 372 Ca(2+)-dependent actin binding. actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation cell cortex|cytoskeleton 1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2) 17 UCEC - Uterine corpus endometrioid carcinoma (126;0.195) AAACAAATTCCCTTTGATGCC 0.408000 8 3 0 0 0.004672 0 0 ASTN2 23245 broad.mit.edu 37 9 119625870 119625870 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr9:119625870C>T uc004bjt.2 - 9 1980 c.1879G>A c.(1879-1881)Gga>Aga p.G627R ASTN2_uc022bml.1_Missense_Mutation_p.G323R|ASTN2_uc022bmm.1_Missense_Mutation_p.G327R NM_014010 NP_054729 O75129 ASTN2_HUMAN Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA. 678 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 ACCACACATCCCGAGGAATCC 0.612000 34 11 0 0 0.003163 0 0 RGPD4 285190 broad.mit.edu 37 2 108488174 108488174 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:108488174C>T uc010ywk.2 + 19 3796 c.3714C>T c.(3712-3714)ccC>ccT p.P1238P RGPD4_uc002tdu.3_Silent_p.P425P|RGPD4_uc010ywl.2_Intron NM_182588 NP_872394 Q7Z3J3 RGPD4_HUMAN Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA. 1238 intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 CAATAAAACCCAATCCTGAAA 0.418000 148 114 0 0 0.014410 0 0 XPO4 64328 broad.mit.edu 37 13 21417979 21417979 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr13:21417979G>A uc001unq.4 - 4 539 c.503C>T c.(502-504)tCa>tTa p.S168L XPO4_uc010tcr.1_Missense_Mutation_p.S94L NM_022459 NP_071904 Q9C0E2 XPO4_HUMAN Homo sapiens exportin 4 (XPO4), mRNA. 168 protein transport cytoplasm|nucleus protein binding breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 41 all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548) ACTTGAACTTGAAAATTCACT 0.343000 29 19 0 0 0.006122 0 0 ZNF354B 117608 broad.mit.edu 37 5 178311020 178311020 + Nonsense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr5:178311020C>T uc003mjl.3 + 4 1793 c.1567C>T c.(1567-1569)Cga>Tga p.R523* ZNF354B_uc003mjm.3_Nonsense_Mutation_p.R523* NM_058230 NP_478137 Q96LW1 Z354B_HUMAN Homo sapiens zinc finger protein 354B (ZNF354B), mRNA. 523 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1) 21 all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GAAACCATATCGATGTTTAGA 0.383000 8 13 0 0 0.001855 0 0 FAT4 79633 broad.mit.edu 37 4 126336140 126336140 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr4:126336140C>T uc003ifj.4 + 4 6022 c.6022C>T c.(6022-6024)Cgg>Tgg p.R2008W FAT4_uc011cgp.2_Missense_Mutation_p.R306W NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA. 2008 Cadherin 19. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 AGCTTTGGATCGGGAAAGTCA 0.433000 71 54 0 0 0.014410 0 0 INHBB 3625 broad.mit.edu 37 2 121107433 121107433 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:121107433G>A uc002tmn.2 + 1 1253 c.1207G>A c.(1207-1209)Gag>Aag p.E403K NM_002193 NP_002184 P09529 INHBB_HUMAN Homo sapiens inhibin, beta B (INHBB), mRNA. 403 activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation extracellular region|perinuclear region of cytoplasm cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2) 15 Prostate(154;0.122) GATTGTGGAGGAGTGCGGCTG 0.632000 9 11 0 0 0.010729 0 0 NLRP11 204801 broad.mit.edu 37 19 56321202 56321202 + Silent SNP G A A rs140447447 byFrequency TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:56321202G>A uc010ygf.2 - 4 1485 c.774C>T c.(772-774)ctC>ctT p.L258L NLRP11_uc002qlz.3_Silent_p.L159L|NLRP11_uc002qmb.3_Silent_p.L159L|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript NM_145007 NP_659444 P59045 NAL11_HUMAN Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA. 258 NACHT. ATP binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 66 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) AACTGACCAGGAGAACTGGAA 0.443000 28 23 0 0 0.003330 0 0 BTNL2 56244 broad.mit.edu 37 6 32372808 32372809 + Missense_Mutation DNP TG AA AA TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:32372808_32372809TG>AA uc003obg.1 - 1 334_335 c.334_335CA>TT c.(334-336)cac>TTc p.H112F BTNL2_uc010jty.1_Intron|BTNL2_uc010jtz.1_Intron|BTNL2_uc010jua.1_Intron NM_019602 NP_062548 Q9UIR0 BTNL2_HUMAN Homo sapiens butyrophilin-like 2 (MHC class II associated) (BTNL2), mRNA. 112 Ig-like V-type 1. integral to membrane central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1) 19 CTGGATGTTGTGTATCTTCAGT 0.490000 20 120 0 0 0.004672 0 0 NBPF10 100132406 broad.mit.edu 37 1 144619403 144619403 + Missense_Mutation SNP A G G rs4067646 TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:144619403A>G uc009wig.1 + 5 738 c.544A>G c.(544-546)Aaa>Gaa p.K182E NBPF10_uc010oxo.1_Missense_Mutation_p.K184E|NBPF10_uc010oxn.1_Intron|NBPF10_uc021oth.1_Intron|NBPF10_uc021otj.1_Intron|NBPF10_uc021oto.1_Intron|NBPF10_uc021otr.1_Intron|NBPF10_uc021ots.1_Intron|NBPF10_uc021otv.1_Intron|NBPF10_uc001ekk.1_Intron|NBPF10_uc010oyd.1_Intron|NBPF10_uc010oye.2_Missense_Mutation_p.K115E|NBPF10_uc001eli.3_Non-coding_Transcript|NBPF10_uc009wii.1_Intron NM_001037675 NP_001032764 A6NDV3 A6NDV3_HUMAN Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA. 184 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) GAAAGTGCAGAAATCATCTGC 0.413000 254 7 0 0 0.003080 0 0 ZNF534 147658 broad.mit.edu 37 19 52942068 52942068 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:52942068C>T uc002pzk.3 + 3 1461 c.1394C>T c.(1393-1395)tCc>tTc p.S465F ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.3_Missense_Mutation_p.S452F NM_001143939 NP_001137411 Q76KX8 ZN534_HUMAN Homo sapiens zinc finger protein 534 (ZNF534), transcript variant 2, mRNA. 465 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|lung(1)|prostate(1)|skin(1) 4 CACAAGTCTTCCCTAACCTAT 0.423000 1 4 0 0 0.000602 0 0 LOXL4 84171 broad.mit.edu 37 10 100016611 100016611 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr10:100016611C>T uc001kpa.1 - 8 1505 c.1354G>A c.(1354-1356)Gaa>Aaa p.E452K NM_032211 NP_115587 Q96JB6 LOXL4_HUMAN Homo sapiens lysyl oxidase-like 4 (LOXL4), mRNA. 452 SRCR 4. extracellular space|membrane copper ion binding|protein binding|scavenger receptor activity breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2) 26 Colorectal(252;0.234) Epithelial(162;2.14e-11)|all cancers(201;2.49e-09) CCCCAGTTTTCACTGCACACG 0.617000 35 33 0 0 0.003271 0 0 PARP9 83666 broad.mit.edu 37 3 122274967 122274967 + Splice_Site SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:122274967C>T uc010hri.3 - 4 300 c.155_splice c.e4-1 p.E52_splice PARP9_uc003eff.4_Splice_Site_p.E17_splice|PARP9_uc011bjs.2_Splice_Site_p.E17_splice|PARP9_uc003efg.3_Intron|PARP9_uc003efi.3_Splice_Site_p.E17_splice|PARP9_uc003efh.3_Splice_Site_p.E52_splice|PARP9_uc003efj.2_Splice_Site_p.E17_splice NM_001146102 NP_113646 Q8IXQ6 PARP9_HUMAN Homo sapiens poly (ADP-ribose) polymerase family, member 9 (PARP9), transcript variant 2, mRNA. 52 cell migration cytosol|nucleus NAD+ ADP-ribosyltransferase activity|protein binding endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3) 34 GBM - Glioblastoma multiforme(114;0.0519) GAGCACCAGTCTCTGGAAAAG 0.333000 13 9 0 0 0.004482 0 0 CCDC148 130940 broad.mit.edu 37 2 159107317 159107317 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:159107317C>T uc002tzq.3 - 9 1532 c.1218G>A c.(1216-1218)aaG>aaA p.K406K CCDC148_uc002tzr.3_Silent_p.K254K|CCDC148_uc010foh.3_Silent_p.K119K NM_138803 NP_620158 Q8NFR7 CC148_HUMAN Homo sapiens coiled-coil domain containing 148 (CCDC148), transcript variant 1, mRNA. 406 Glu/Lys-rich. endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 23 gcaacaattccttcttcttcc 0.388000 6 5 0 0 0.000602 0 0 PLEKHM3 389072 broad.mit.edu 37 2 208773280 208773280 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:208773280G>A uc002vcl.2 - 5 2398 c.1908C>T c.(1906-1908)ctC>ctT p.L636L PLEKHM3_uc002vcm.2_Missense_Mutation_p.S651F NM_001080475 NP_001073944 Q6ZWE6 PKHM3_HUMAN Homo sapiens pleckstrin homology domain containing, family M, member 3 (PLEKHM3), mRNA. 636 intracellular signal transduction metal ion binding central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 TCTGTTGAAGGAGGTATTCTC 0.438000 44 34 0 0 0.004878 0 0 FBXL13 222235 broad.mit.edu 37 7 102665603 102665603 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr7:102665603G>A uc003vaq.2 - 5 829 c.402C>T c.(400-402)tcC>tcT p.S134S FBXL13_uc010liq.1_5'UTR|FBXL13_uc010lir.1_Silent_p.S134S|FBXL13_uc003var.2_Non-coding_Transcript|FBXL13_uc003vas.2_Silent_p.S134S|FBXL13_uc003vav.2_Non-coding_Transcript NM_145032 NP_659469 Q8NEE6 FXL13_HUMAN Homo sapiens F-box and leucine-rich repeat protein 13 (FBXL13), transcript variant 1, mRNA. 134 NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1) 27 CAGGAAAATTGGATTCTTCTG 0.303000 21 18 0 0 0.006122 0 0 CYP2A13 1553 broad.mit.edu 37 19 41600158 41600158 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:41600158C>T uc002opt.3 + 6 991 c.982C>T c.(982-984)Cat>Tat p.H328Y NM_000766 NP_000757 Q16696 CP2AD_HUMAN Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 13 (CYP2A13), mRNA. 328 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2) 42 Clomipramine(DB01242)|Nicotine(DB00184) AGCCAAGGTCCATGAGGAGAT 0.537000 28 29 0 0 0.006320 0 0 abParts 0 broad.mit.edu 37 14 107062222 107062222 + RNA SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr14:107062222C>T uc021ser.1 - 150 c.6764G>A Parts of antibodies, mostly variable regions. CATGGTGATTCGACTCTTGAG 0.567000 59 37 0 0 0.003755 0 0 CNGA3 1261 broad.mit.edu 37 2 99012414 99012414 + Missense_Mutation SNP C G G TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:99012414C>G uc010fij.3 + 7 934 c.793C>G c.(793-795)Ctg>Gtg p.L265V CNGA3_uc002syt.3_Missense_Mutation_p.L261V|CNGA3_uc002syu.3_Missense_Mutation_p.L243V Q16281 CNGA3_HUMAN Homo sapiens cyclic nucleotide gated channel alpha 3 (CNGA3), transcript variant 1, mRNA. 261 signal transduction|visual perception integral to membrane cGMP binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3) 49 CCCCACCGACCTGGCTTACTT 0.517000 36 24 0 0 0.004656 0 0 ELMO2 63916 broad.mit.edu 37 20 45000553 45000553 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr20:45000553G>A uc010zxr.1 - 17 1718 c.1508C>T c.(1507-1509)tCt>tTt p.S503F ELMO2_uc010zxq.1_Missense_Mutation_p.S223F|ELMO2_uc002xrs.1_Missense_Mutation_p.S238F|ELMO2_uc002xrt.1_Missense_Mutation_p.S491F|ELMO2_uc002xru.1_Missense_Mutation_p.S491F|ELMO2_uc010zxs.1_Missense_Mutation_p.S308F|ELMO2_uc002xrv.1_Missense_Mutation_p.S210F NM_182764 NP_877496 Q96JJ3 ELMO2_HUMAN Homo sapiens engulfment and cell motility 2 (ELMO2), transcript variant 2, mRNA. 491 apoptosis|cell chemotaxis|phagocytosis cytoskeleton|cytosol|membrane SH3 domain binding|lyase activity|receptor tyrosine kinase binding breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1) 16 Myeloproliferative disorder(115;0.0122) CTGATCCAAAGAGTTGGGTTT 0.502000 34 28 0 0 0.007291 0 0 ZNF536 9745 broad.mit.edu 37 19 31039364 31039364 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:31039364C>T uc002nsu.1 + 3 2976 c.2838C>T c.(2836-2838)tcC>tcT p.S946S ZNF536_uc010edd.1_Silent_p.S946S NM_014717 NP_055532 O15090 ZN536_HUMAN Homo sapiens zinc finger protein 536 (ZNF536), mRNA. 946 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) ACCCCCCTTCCATGAAAGTCC 0.517000 86 81 0 0 0.014410 0 0 SIGLEC9 27180 broad.mit.edu 37 19 51631270 51631270 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:51631270C>T uc010yct.2 + 4 1175 c.1080C>T c.(1078-1080)ttC>ttT p.F360F SIGLEC9_uc002pvu.3_Silent_p.F360F NM_001198558 NP_001185487 Q9Y336 SIGL9_HUMAN Homo sapiens sialic acid binding Ig-like lectin 9 (SIGLEC9), transcript variant 1, mRNA. 360 cell adhesion|cell surface receptor linked signaling pathway integral to plasma membrane sugar binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 45 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295) CCCTGGTCTTCCTGTCCTTCT 0.567000 80 87 0 0 0.014410 0 0 NR3C2 4306 broad.mit.edu 37 4 149075792 149075792 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr4:149075792G>A uc003ilj.4 - 4 2638 c.2275C>T c.(2275-2277)Cca>Tca p.P759S NR3C2_uc003ilk.4_Intron|NR3C2_uc010iph.3_Intron NM_000901 NP_000892 P08235 MCR_HUMAN Homo sapiens nuclear receptor subfamily 3, group C, member 2 (NR3C2), transcript variant 1, mRNA. 759 Steroid-binding. P -> S (in AD-PHA1). regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor endoplasmic reticulum membrane|nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0614) Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421) GCTGTATCTGGTTTTGAGCTG 0.488000 90 79 0 0 0.014410 0 0 TMPRSS6 164656 broad.mit.edu 37 22 37499418 37499418 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr22:37499418C>T uc003aqt.1 - 1 102 c.40G>A c.(40-42)Ggg>Agg p.G14R TMPRSS6_uc003aqs.1_Missense_Mutation_p.G23R|TMPRSS6_uc003aqu.3_Missense_Mutation_p.G14R NM_153609 NP_705837 Q8IU80 TMPS6_HUMAN Homo sapiens transmembrane protease, serine 6 (TMPRSS6), mRNA. 23 angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis integral to membrane|intracellular|plasma membrane serine-type endopeptidase activity breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3) 40 CCTCCGTCCCCCTGCCCGCCA 0.657000 82 68 0 0 0.014410 0 0 ATG13 9776 broad.mit.edu 37 11 46667426 46667426 + Silent SNP T C C TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:46667426T>C uc001nda.3 + 3 785 c.157T>C c.(157-159)Tta>Cta p.L53L ATG13_uc009yld.3_Silent_p.L53L|ATG13_uc001ndb.3_Silent_p.L53L|ATG13_uc001ncz.3_Silent_p.L53L|ATG13_uc001ndc.3_Silent_p.L53L|ATG13_uc010rgv.2_5'UTR NM_001205119 NP_001192048 O75143 ATG13_HUMAN Homo sapiens ATG13 autophagy related 13 homolog (S. cerevisiae) (ATG13), transcript variant 3, mRNA. 53 autophagic vacuole assembly ULK1-ATG13-FIP200 complex|cytosol|pre-autophagosomal structure protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1) 15 CCAGTTCAACTTAGCAATCAA 0.443000 19 22 0 0 0.012319 0 0 MC2R 4158 broad.mit.edu 37 18 13885332 13885332 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr18:13885332G>A uc002ksp.1 - 1 363 c.186C>T c.(184-186)ttC>ttT p.F62F MC2R_uc021uhs.1_Silent_p.F62F NM_000529 NP_000520 Q01718 ACTHR_HUMAN Homo sapiens melanocortin 2 receptor (adrenocorticotropic hormone) (MC2R), mRNA. 62 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane corticotropin receptor activity|protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 Corticotropin(DB01285)|Cosyntropin(DB01284) AGCTACAGATGAAAAAGTACA 0.408000 18 14 0 0 0.002450 0 0 NRBP1 29959 broad.mit.edu 37 2 27664672 27664672 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:27664672C>T uc002rko.3 + 18 2433 c.1601C>T c.(1600-1602)tCc>tTc p.S534F NRBP1_uc002rkp.3_Missense_Mutation_p.S534F|NRBP1_uc002rkr.3_Missense_Mutation_p.S325F|KRTCAP3_uc002rks.3_5'Flank|KRTCAP3_uc010ylr.2_5'Flank|KRTCAP3_uc021vfd.1_5'Flank|KRTCAP3_uc002rkt.3_5'Flank NM_013392 NP_037524 Q9UHY1 NRBP_HUMAN Homo sapiens nuclear receptor binding protein 1 (NRBP1), mRNA. 534 ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm ATP binding|protein homodimerization activity|protein kinase activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 19 Acute lymphoblastic leukemia(172;0.155) GTCACCGTCTCCTCTTAGAGC 0.577000 54 64 0 0 0.014410 0 0 KCTD2 23510 broad.mit.edu 37 17 73059116 73059116 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:73059116C>T uc002jmp.3 + 5 833 c.766C>T c.(766-768)Ctt>Ttt p.L256F KCTD2_uc010dfz.3_Non-coding_Transcript|KCTD2_uc002jmq.3_Non-coding_Transcript NM_015353 NP_056168 Q14681 KCTD2_HUMAN Homo sapiens potassium channel tetramerisation domain containing 2 (KCTD2), mRNA. 256 voltage-gated potassium channel complex voltage-gated potassium channel activity kidney(1)|lung(2) 3 all_lung(278;0.226) CTTTCAGATTCTTCAGGAGAG 0.542000 14 11 0 0 0.013537 0 0 MYH7 4625 broad.mit.edu 37 14 23899827 23899827 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr14:23899827G>A uc001wjx.3 - 10 1047 c.941C>T c.(940-942)tCc>tTc p.S314F NM_000257 NP_000248 P12883 MYH7_HUMAN Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA. 314 Myosin head-like. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) CTCTCCTTGGGAGATGAATGC 0.567000 27 17 0 0 0.012319 0 0 KSR2 283455 broad.mit.edu 37 12 118199001 118199001 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:118199001G>A uc001two.2 - 3 769 c.714C>T c.(712-714)atC>atT p.I238I NM_173598 NP_775869 Q6VAB6 KSR2_HUMAN Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA. 267 Pro-rich. intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CGGTGGTGACGATGTTGGGGG 0.721000 139 92 0 0 0.014410 0 0 MYH7 4625 broad.mit.edu 37 14 23894992 23894993 + Missense_Mutation DNP CC TT TT TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr14:23894992_23894993CC>TT uc001wjx.3 - 19 2303_2304 c.2197_2198GG>AA c.(2197-2199)gga>AAa p.G733K NM_000257 NP_000248 P12883 MYH7_HUMAN Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA. 733 Myosin head-like. G -> E (in CMH1). adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) AATGAACTGTCCCTCAGGGATG 0.545000 50 31 0 0 0.004672 0 0 PELP1 27043 broad.mit.edu 37 17 4575893 4575893 + Missense_Mutation SNP A G G TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:4575893A>G uc002fyi.4 - 15 2619 c.2393T>C c.(2392-2394)cTg>cCg p.L798P PELP1_uc010vsf.2_Missense_Mutation_p.L651P NM_014389 NP_055204 Q8IZL8 PELP1_HUMAN Homo sapiens proline, glutamate and leucine rich protein 1 (PELP1), mRNA. 798 Pro-rich. transcription, DNA-dependent MLL1 complex|cytoplasm protein binding breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 15 TGGGGGTGGCAGGGGGGGAAG 0.612000 29 4 0 0 0.008291 0 0 FAM123C 205147 broad.mit.edu 37 2 131521642 131521642 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:131521642C>T uc021voy.1 + 0 1997 c.1997C>T c.(1996-1998)aCt>aTt p.T666I FAM123C_uc002trw.2_Missense_Mutation_p.T666I|FAM123C_uc010fmv.2_Missense_Mutation_p.T666I|FAM123C_uc010fms.1_Missense_Mutation_p.T666I|FAM123C_uc010fmt.1_Missense_Mutation_p.T666I|FAM123C_uc010fmu.1_Missense_Mutation_p.T666I NM_152698 NP_689911 Q8N944 F123C_HUMAN Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA. 666 breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8) 73 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.13) GGAGGTGACACTCTGGATGCA 0.657000 16 10 0 0 0.006214 0 0 ABRA 137735 broad.mit.edu 37 8 107782255 107782255 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr8:107782255C>T uc003ymm.4 - 0 218 c.164G>A c.(163-165)gGg>gAg p.G55E NM_139166 NP_631905 Q8N0Z2 ABRA_HUMAN Homo sapiens actin-binding Rho activating protein (ABRA), mRNA. 55 positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport actin cytoskeleton|plasma membrane|sarcomere actin binding breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2) 27 OV - Ovarian serous cystadenocarcinoma(57;3.83e-09) GTCCTGGGTCCCTCCCGGCAG 0.617000 42 42 0 0 0.009718 0 0 PREX2 80243 broad.mit.edu 37 8 69011978 69011978 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr8:69011978C>T uc003xxv.1 + 22 2642 c.2615C>T c.(2614-2616)tCt>tTt p.S872F PREX2_uc003xxu.1_Missense_Mutation_p.S872F|PREX2_uc011lez.1_Missense_Mutation_p.S807F NM_024870 NP_079146 Q70Z35 PREX2_HUMAN Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA. 872 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 AGCCTAAATTCTCTAAATGAA 0.393000 32 32 0 0 0.012213 0 0 ADCY8 114 broad.mit.edu 37 8 131859670 131859670 + Splice_Site SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr8:131859670C>T uc003ytd.4 - 11 2758 c.2502_splice c.e11+1 p.E834_splice ADCY8_uc010mds.3_Intron NM_001115 NP_001106 P40145 ADCY8_HUMAN Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA. 834 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) AAATAAATACCTCTGGGTAGG 0.423000 HNSCC(32;0.087) 30 13 0 0 0.001855 0 0 LYRM1 57149 broad.mit.edu 37 16 20927004 20927004 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr16:20927004G>A uc010bwj.3 + 1 428 c.127G>A c.(127-129)Gaa>Aaa p.E43K LYRM1_uc010bwi.1_Non-coding_Transcript|LYRM1_uc010bwk.3_Intron|LYRM1_uc002dia.4_Missense_Mutation_p.E43K|LYRM1_uc010bwl.3_Missense_Mutation_p.E43K|LYRM1_uc010bwm.3_Intron|LYRM1_uc002dib.3_Missense_Mutation_p.E43K NM_020424 NP_065157 O43325 LYRM1_HUMAN Homo sapiens LYR motif containing 1 (LYRM1), transcript variant 1, mRNA. 43 nucleus large_intestine(1)|prostate(1) 2 CATACTAAATGAAGCCAGAAC 0.438000 45 20 0 0 0.008871 0 0 SLC6A20 54716 broad.mit.edu 37 3 45823701 45823701 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:45823701G>A uc011bai.2 - 1 260 c.136C>T c.(136-138)Ccc>Tcc p.P46S SLC6A20_uc011baj.2_Missense_Mutation_p.P46S NM_020208 NP_064593 Q9NP91 S6A20_HUMAN Homo sapiens solute carrier family 6 (proline IMINO transporter), member 20 (SLC6A20), transcript variant 1, mRNA. 46 cellular nitrogen compound metabolic process|glycine transport|proline transport apical plasma membrane|integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity p.P46S(2) breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1) 13 BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267) ATGATGTAGGGGACCAGGAAA 0.577000 27 10 0 0 0.008291 0 0 OR5H15 403274 broad.mit.edu 37 3 97887907 97887907 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:97887907C>T uc011bgu.2 + 0 364 c.364C>T c.(364-366)Cgc>Tgc p.R122C NM_001005515 NP_001005515 A6NDH6 O5H15_HUMAN Homo sapiens olfactory receptor, family 5, subfamily H, member 15 (OR5H15), mRNA. 122 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1) 35 GGCATATGATCGCTATGTAGC 0.378000 56 40 0 0 0.009718 0 0 POLG2 11232 broad.mit.edu 37 17 62487001 62487001 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:62487001G>A uc002jei.3 - 3 979 c.881C>T c.(880-882)cCc>cTc p.P294L POLG2_uc021ubq.1_Missense_Mutation_p.P27L|POLG2_uc010deg.2_Missense_Mutation_p.P294L NM_007215 NP_009146 Q9UHN1 DPOG2_HUMAN Homo sapiens polymerase (DNA directed), gamma 2, accessory subunit (POLG2), nuclear gene encoding mitochondrial protein, mRNA. 294 DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation mitochondrial chromosome ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding p.P294S(1) central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1) 15 Breast(5;2.15e-14) BRCA - Breast invasive adenocarcinoma(8;4.97e-11) CTTTCCCCAGGGAAAATTGTA 0.403000 28 22 0 0 0.014323 0 0 CDK8 1024 broad.mit.edu 37 13 26967593 26967593 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr13:26967593C>T uc001uqr.1 + 6 759 c.736C>T c.(736-738)Cct>Tct p.P246S CDK8_uc001uqs.1_Missense_Mutation_p.P246S|CDK8_uc001uqt.1_Missense_Mutation_p.P73S NM_001260 NP_001251 P49336 CDK8_HUMAN Homo sapiens cyclin-dependent kinase 8 (CDK8), mRNA. 246 Protein kinase. regulation of transcription, DNA-dependent|transcription, DNA-dependent mediator complex ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 25 Colorectal(5;0.000442) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188) AACTAGTAATCCTTATCACCA 0.343000 89 59 0 0 0.014410 0 0 SALL1 6299 broad.mit.edu 37 16 51174131 51174131 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr16:51174131C>T uc021tif.1 - 1 2033 c.1711G>A c.(1711-1713)Gag>Aag p.E571K SALL1_uc021tid.1_Missense_Mutation_p.E571K|SALL1_uc021tie.1_Missense_Mutation_p.E668K|SALL1_uc010cbv.3_Intron NM_001127892 NP_001121364 Q9NSC2 SALL1_HUMAN Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA. 668 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) TTGAACTGCTCGGACATGAGC 0.592000 51 42 0 0 0.008740 0 0 PMFBP1 83449 broad.mit.edu 37 16 72164554 72164554 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr16:72164554C>T uc002fcc.4 - 10 1702 c.1530G>A c.(1528-1530)agG>agA p.R510R PMFBP1_uc002fcd.3_Silent_p.R505R|PMFBP1_uc002fce.3_Non-coding_Transcript|PMFBP1_uc002fcf.3_Silent_p.R360R|PMFBP1_uc010cgo.1_5'Flank NM_031293 NP_112583 Q8TBY8 PMFBP_HUMAN Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA. 510 NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 45 Ovarian(137;0.179) TCTGCAGTTTCCTCTGGGTGT 0.567000 31 19 0 0 0.007413 0 0 HABP2 3026 broad.mit.edu 37 10 115343036 115343036 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr10:115343036C>T uc001lai.4 + 9 1259 c.1156C>T c.(1156-1158)Cat>Tat p.H386Y HABP2_uc021pyr.1_Missense_Mutation_p.H360Y|HABP2_uc010qrz.1_Non-coding_Transcript NM_004132 NP_001171131 Q14520 HABP2_HUMAN Homo sapiens hyaluronan binding protein 2 (HABP2), transcript variant 1, mRNA. 386 Peptidase S1. cell adhesion|proteolysis extracellular space glycosaminoglycan binding|serine-type endopeptidase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 23 Colorectal(252;0.0233)|Breast(234;0.0672) Epithelial(162;0.00319)|all cancers(201;0.0112) AGAAGAATTTCATGAGCAGAG 0.438000 36 34 0 0 0.004289 0 0 CPS1 1373 broad.mit.edu 37 2 211457632 211457632 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:211457632C>T uc010fur.3 + 11 1216 c.1134C>T c.(1132-1134)ttC>ttT p.F378F CPS1_uc002vee.4_Silent_p.F372F|CPS1_uc010fus.3_5'Flank NM_001122633 NP_001116105 P31327 CPSM_HUMAN Homo sapiens carbamoyl-phosphate synthase 1, mitochondrial (CPS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 372 Glutamine amidotransferase type-1. carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity p.P378P(1) breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 142 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) AACCCTTCTTCGCTGTGCAGT 0.408000 71 56 0 0 0.014410 0 0 DMRT3 58524 broad.mit.edu 37 9 990863 990863 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr9:990863C>T uc003zgw.1 + 1 1315 c.1277C>T c.(1276-1278)cCt>cTt p.P426L NM_021240 NP_067063 Q9NQL9 DMRT3_HUMAN Homo sapiens doublesex and mab-3 related transcription factor 3 (DMRT3), mRNA. 426 cell differentiation|multicellular organismal development|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity p.P426S(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08) Lung(218;0.0196) CCCGTCCTTCCTGCCCGCGCC 0.552000 8 27 0 0 0.003954 0 0 POLR1A 25885 broad.mit.edu 37 2 86310264 86310264 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:86310264C>T uc002sqs.3 - 6 1137 c.758G>A c.(757-759)cGa>cAa p.R253Q NM_015425 NP_056240 O95602 RPA1_HUMAN Homo sapiens polymerase (RNA) I polypeptide A, 194kDa (POLR1A), mRNA. 253 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 63 TAAGTATCCTCGTTTTCCTAT 0.443000 40 20 0 0 0.002780 0 0 MMP1 4312 broad.mit.edu 37 11 102661530 102661530 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:102661530C>T uc001phi.2 - 8 1347 c.1204G>A c.(1204-1206)Gaa>Aaa p.E402K LOC100288077_uc001phh.1_Intron|MMP1_uc010ruv.1_Missense_Mutation_p.E336K NM_002421 NP_001139410 P03956 MMP1_HUMAN Homo sapiens matrix metallopeptidase 1 (interstitial collagenase) (MMP1), transcript variant 1, mRNA. 402 Hemopexin-like 3. blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 30 all_epithelial(12;0.0127) all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233) OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014) CGTTTATATTCATCATACCTG 0.363000 32 38 0 0 0.005524 0 0 UTP20 27340 broad.mit.edu 37 12 101731947 101731947 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:101731947G>A uc001tia.1 + 29 3916 c.3760G>A c.(3760-3762)Gac>Aac p.D1254N NM_014503 NP_055318 O75691 UTP20_HUMAN Homo sapiens UTP20, small subunit (SSU) processome component, homolog (yeast) (UTP20), mRNA. 1254 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 TATTGTAATGGACATAGTTGA 0.423000 55 46 0 0 0.014410 0 0 DNAH17 8632 broad.mit.edu 37 17 76455103 76455104 + Missense_Mutation DNP GG AA AA TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:76455103_76455104GG>AA uc010dhp.2 - 60 9965_9966 c.9840_9841CC>TT c.(9838-9843)tcccgg>tcTTgg p.R3281W DNAH17_uc002jvs.3_Non-coding_Transcript NM_173628 NP_775899 Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA. NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) TTTTTGATCCGGGACAGCTTCT 0.579000 51 37 0 0 0.004672 0 0 PCDHB6 56130 broad.mit.edu 37 5 140531414 140531414 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr5:140531414G>A uc003lir.3 + 0 1576 c.1576G>A c.(1576-1578)Gag>Aag p.E526K NM_018939 NP_061762 Q9Y5E3 PCDB6_HUMAN Homo sapiens protocadherin beta 6 (PCDHB6), mRNA. 526 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 84 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCAGTCTTTCGAGTTCCGCGT 0.672000 11 54 0 0 0.014410 0 0 XIRP2 129446 broad.mit.edu 37 2 168105732 168105732 + Silent SNP C A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:168105732C>A uc002udx.3 + 8 7919 c.7830C>A c.(7828-7830)ccC>ccA p.P2610P XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Silent_p.P2435P|XIRP2_uc010fpq.3_Silent_p.P2388P|XIRP2_uc010fpr.3_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA. 2435 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 TGGTTCAACCCAGCCCAGGCT 0.463000 42 35 3.90053e-15 4.14852e-15 0.012213 1 0 ABCC9 10060 broad.mit.edu 37 12 22001151 22001151 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:22001151C>T uc001rfh.3 - 22 2819 c.2799G>A c.(2797-2799)gaG>gaA p.E933E ABCC9_uc001rfi.1_Silent_p.E933E NM_020297 NP_064693 O60706 ABCC9_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA. 933 defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) GAGTTTTCCTCTCTAAAGTAG 0.413000 51 28 0 0 0.012213 0 0 OR52E6 390078 broad.mit.edu 37 11 5862787 5862787 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:5862787C>T uc010qzq.2 - 0 341 c.341G>A c.(340-342)aGc>aAc p.S114N TRIM5_uc001mbq.1_Intron NM_001005167 NP_001005167 Q96RD3 O52E6_HUMAN Homo sapiens olfactory receptor, family 52, subfamily E, member 6 (OR52E6), mRNA. 114 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CAATACGATGCTCTCCATGAC 0.448000 96 70 0 0 0.014410 0 0 DNAH17 8632 broad.mit.edu 37 17 76528651 76528651 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:76528651C>T uc010dhp.2 - 19 3152 c.3027G>A c.(3025-3027)ggG>ggA p.G1009G NM_173628 NP_775899 Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA. NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) TGACTGCACACCCATATATCA 0.557000 4 12 0 0 0.010729 0 0 MATR3 9782 broad.mit.edu 37 5 138651821 138651821 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr5:138651821C>T uc003ldw.3 + 5 1476 c.1073C>T c.(1072-1074)cCt>cTt p.P358L MATR3_uc003ldt.3_Missense_Mutation_p.P20L|MATR3_uc003ldu.3_Missense_Mutation_p.P358L|MATR3_uc010jfb.3_Missense_Mutation_p.P358L|MATR3_uc003ldx.3_Missense_Mutation_p.P358L|MATR3_uc003ldy.3_Missense_Mutation_p.P35L|MATR3_uc003ldz.3_Missense_Mutation_p.P358L|MATR3_uc011czb.2_Missense_Mutation_p.P70L|MATR3_uc003leb.3_Missense_Mutation_p.P20L|MATR3_uc003lec.3_Missense_Mutation_p.P35L NM_018834 NP_954659 P43243 MATR3_HUMAN Homo sapiens matrin 3 (MATR3), transcript variant 2, mRNA. 358 nuclear inner membrane|nuclear matrix RNA binding|nucleotide binding|protein binding|structural molecule activity|zinc ion binding breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 29 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) ATTCTGGGACCTCCACCTCCC 0.413000 9 37 0 0 0.007835 0 0 SLC22A9 114571 broad.mit.edu 37 11 63141197 63141197 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:63141197C>T uc001nww.3 + 2 856 c.588C>T c.(586-588)ttC>ttT p.F196F SLC22A9_uc001nwx.3_Intron NM_080866 NP_543142 Q8IVM8 S22A9_HUMAN Homo sapiens solute carrier family 22 (organic anion transporter), member 9 (SLC22A9), mRNA. 196 transmembrane transport integral to membrane breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 18 CTCCCACCTTCCTCATTTACT 0.463000 44 28 0 0 0.009535 0 0 KRTAP5-4 387267 broad.mit.edu 37 11 1642985 1642985 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:1642985G>A uc009ycy.1 - 1 321 c.234C>T c.(232-234)tcC>tcT p.S78S MOB2_uc001ltq.2_Intron NM_001012709 NP_001012727 Q6L8H1 KRA54_HUMAN Homo sapiens keratin associated protein 5-4 (KRTAP5-4), mRNA. 173 9 X 4 AA repeats of C-C-X-P. keratin filament NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2) 20 all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) AACCCCCACAGGAGCCACAGC 0.667000 65 35 0 0 0.004878 0 0 KRT78 196374 broad.mit.edu 37 12 53242411 53242411 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:53242411G>A uc001sbc.1 - 0 368 c.304C>T c.(304-306)Ccc>Tcc p.P102S NM_173352 NP_775487 Q8N1N4 K2C78_HUMAN Homo sapiens keratin 78 (KRT78), mRNA. 102 Head. 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 TGGAACTGGGGATCGATCTCA 0.572000 22 19 0 0 0.012319 0 0 VDAC2 7417 broad.mit.edu 37 10 76990717 76990717 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr10:76990717G>A uc001jxa.3 + 10 1455 c.900G>A c.(898-900)aaG>aaA p.K300K VDAC2_uc021ptp.1_Silent_p.K285K|VDAC2_uc010qld.2_Silent_p.K246K|VDAC2_uc001jwz.3_Silent_p.K285K|VDAC2_uc010qle.2_Silent_p.K246K NM_001184783 NP_001171712 P45880 VDAC2_HUMAN Homo sapiens voltage-dependent anion channel 2 (VDAC2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 285 mitochondrial nucleoid|mitochondrial outer membrane|pore complex nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1) 10 all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183) Dihydroxyaluminium(DB01375) GAGGCCACAAGGTTGGGCTCG 0.428000 OREG0020276 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 23 13 0 0 0.001855 0 0 SPCS2 9789 broad.mit.edu 37 11 74680701 74680701 + Missense_Mutation SNP A G G TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:74680701A>G uc001ovu.2 + 3 490 c.451A>G c.(451-453)Atg>Gtg p.M151V NM_014752 NP_055567 Q15005 SPCS2_HUMAN Homo sapiens signal peptidase complex subunit 2 homolog (S. cerevisiae) (SPCS2), mRNA. 151 energy reserve metabolic process|regulation of insulin secretion|signal peptide processing integral to membrane|microsome|signal peptidase complex peptidase activity breast(1) 1 TCCTACAGGAATGGATCCTGA 0.418000 57 50 0 0 0.014410 0 0 ARHGAP15 55843 broad.mit.edu 37 2 143973992 143973992 + Missense_Mutation SNP G T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:143973992G>T uc002tvm.4 + 3 425 c.274G>T c.(274-276)Gca>Tca p.A92S ARHGAP15_uc010zbl.1_Missense_Mutation_p.A92S NM_018460 NP_060930 Q53QZ3 RHG15_HUMAN Homo sapiens Rho GTPase activating protein 15 (ARHGAP15), mRNA. 92 PH. regulation of cell shape|small GTPase mediated signal transduction cytosol|membrane Rac GTPase activator activity|protein binding endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2) 34 BRCA - Breast invasive adenocarcinoma(221;0.151) AGCTAAAATTGCAGATGGAGG 0.308000 45 32 4.39465e-27 4.7299e-27 0.013726 1 0 OR1K1 392392 broad.mit.edu 37 9 125563054 125563054 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr9:125563054C>T uc011lze.2 + 0 653 c.653C>T c.(652-654)tCc>tTc p.S218F NM_080859 NP_543135 Q8NGR3 OR1K1_HUMAN Homo sapiens olfactory receptor, family 1, subfamily K, member 1 (OR1K1), mRNA. 218 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1) 17 ATCCTCGCCTCCTATGGGGCC 0.652000 25 29 0 0 0.006320 0 0 CHP1 11261 broad.mit.edu 37 15 41562787 41562787 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr15:41562787G>A uc001znl.3 + 4 526 c.382G>A c.(382-384)Gaa>Aaa p.E128K CHP1_uc021sjk.1_Intron|CHP1_uc021sjl.1_Non-coding_Transcript NM_007236 NP_009167 Q99653 CHP1_HUMAN Homo sapiens calcium binding protein P22 (CHP), mRNA. 128 EF-hand 3. potassium ion transport|small GTPase mediated signal transduction potassium channel regulator activity GGATAAAGATGAAAAGATCTC 0.413000 40 31 0 0 0.013726 0 0 ADD2 119 broad.mit.edu 37 2 70900138 70900138 + Splice_Site SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:70900138C>T uc021vjc.1 - 15 2007 c.1742_splice c.e15-1 p.G581_splice ADD2_uc010fds.2_Splice_Site|ADD2_uc002sgy.3_Splice_Site_p.E610_splice|ADD2_uc002sgz.3_Splice_Site_p.G581_splice NM_001185054 NP_001608 P35612 ADDB_HUMAN Homo sapiens adducin 2 (beta) (ADD2), transcript variant 5, mRNA. 581 actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding F-actin capping protein complex|cytoplasm|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2) 36 TTCTTTCTCTCCTGAAAAAAC 0.458000 25 10 0 0 0.001855 0 0 BANK1 55024 broad.mit.edu 37 4 102791789 102791789 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr4:102791789G>A uc003hvy.4 + 4 1165 c.891G>A c.(889-891)gaG>gaA p.E297E BANK1_uc003hvx.4_Silent_p.E282E|BANK1_uc010ill.3_Silent_p.E164E|BANK1_uc003hvz.4_Silent_p.E267E NM_017935 NP_001077376 Q8NDB2 BANK1_HUMAN Homo sapiens B-cell scaffold protein with ankyrin repeats 1 (BANK1), transcript variant 1, mRNA. 297 DBB. B cell activation NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1) 44 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;2.7e-07) ATTCAGGAGAGAGTTTGTGCC 0.378000 16 12 0 0 0.010729 0 0 PTGIS 5740 broad.mit.edu 37 20 48129705 48129705 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr20:48129705C>T uc002xut.3 - 7 1172 c.1118G>A c.(1117-1119)cGa>cAa p.R373Q PTGIS_uc010zyi.2_Missense_Mutation_p.R234Q NM_000961 NP_000952 Q16647 PTGIS_HUMAN Homo sapiens prostaglandin I2 (prostacyclin) synthase (PTGIS), mRNA. 373 hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 27 BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) Phenylbutazone(DB00812) GTTGAATTCTCGCCCGTCTGC 0.602000 51 36 0 0 0.010771 0 0 TCN1 6947 broad.mit.edu 37 11 59630112 59630112 + Missense_Mutation SNP C T T rs35287646 byFrequency TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:59630112C>T uc001noj.2 - 2 441 c.343G>A c.(343-345)Gat>Aat p.D115N NM_001062 NP_001053 P20061 TCO1_HUMAN Homo sapiens transcobalamin I (vitamin B12 binding protein, R binder family) (TCN1), mRNA. 115 cobalamin metabolic process|cobalamin transport|cobalt ion transport extracellular region cobalamin binding p.D115N(2)|p.Y114*(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 all_epithelial(135;0.198) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) AGGTGGTAATCATATATTAAG 0.363000 52 15 0 0 0.003163 0 0 KRT39 390792 broad.mit.edu 37 17 39122874 39122874 + Missense_Mutation SNP G A A rs147200744 TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:39122874G>A uc002hvo.1 - 0 271 c.235C>T c.(235-237)Cgt>Tgt p.R79C KRT39_uc010wfm.1_5'UTR NM_213656 NP_998821 Q6A163 K1C39_HUMAN Homo sapiens keratin 39 (KRT39), mRNA. 79 Head. intermediate filament structural molecule activity NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1) 17 Breast(137;0.00043)|Ovarian(249;0.15) AGAGAAAAACGGGCATTGAAG 0.512000 114 108 0 0 0.014410 0 0 BRE 9577 broad.mit.edu 37 2 28521344 28521344 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:28521344G>A uc002rls.3 + 10 1326 c.1074G>A c.(1072-1074)atG>atA p.M358I BRE_uc002rlp.1_Missense_Mutation_p.M358I|BRE_uc002rlq.3_Missense_Mutation_p.M358I|BRE_uc002rlr.3_Missense_Mutation_p.M358I|BRE_uc002rlt.3_Missense_Mutation_p.M358I|BRE_uc002rlu.3_Missense_Mutation_p.M358I|BRE_uc002rlv.3_Missense_Mutation_p.M220I NM_004899 NP_004890 Q9NXR7 BRE_HUMAN Homo sapiens brain and reproductive organ-expressed (TNFRSF1A modulator) (BRE), transcript variant 1, mRNA. 358 UEV-like 2. G2/M transition DNA damage checkpoint|apoptosis|chromatin modification|double-strand break repair|positive regulation of DNA repair|positive regulation of anti-apoptosis|response to ionizing radiation|signal transduction BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2) 23 Acute lymphoblastic leukemia(172;0.155) GAAATGAAATGGCCAAAAGAG 0.433000 33 35 0 0 0.013726 0 0 EEF1A1 1915 broad.mit.edu 37 6 74228328 74228328 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:74228328C>T uc003phi.3 - 4 1770 c.778G>A c.(778-780)Ggt>Agt p.G260S EEF1A1_uc003phj.3_Missense_Mutation_p.G260S|EEF1A1_uc021zbs.1_Intron|EEF1A1_uc003phl.3_Intron|EEF1A1_uc003phm.1_Intron|EEF1A1_uc021zbt.1_5'Flank|EEF1A1_uc021zbu.1_5'Flank NM_001402 NP_001393 P68104 EF1A1_HUMAN Homo sapiens eukaryotic translation elongation factor 1 alpha 1 (EEF1A1), mRNA. 260 cytosol|eukaryotic translation elongation factor 1 complex GTP binding|GTPase activity|protein binding|translation elongation factor activity p.G260C(2) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3) 18 GGAACAGTACCAATACCTAAA 0.413000 OREG0003895 type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 32 28 0 0 0.009535 0 0 FOXRED2 80020 broad.mit.edu 37 22 36889754 36889754 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr22:36889754G>A uc003apn.4 - 6 1829 c.1721C>T c.(1720-1722)cCg>cTg p.P574L FOXRED2_uc003apm.4_Missense_Mutation_p.P126L|FOXRED2_uc003apo.4_Missense_Mutation_p.P574L|FOXRED2_uc003app.4_Missense_Mutation_p.P574L NM_024955 NP_079231 Q8IWF2 FXRD2_HUMAN Homo sapiens FAD-dependent oxidoreductase domain containing 2 (FOXRED2), transcript variant 1, mRNA. 574 ER-associated protein catabolic process endoplasmic reticulum lumen flavin adenine dinucleotide binding|oxidoreductase activity|protein binding p.P574L(2)|p.P574S(1) breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 GTGCCCGATCGGGGCAGTCCA 0.557000 39 35 0 0 0.003271 0 0 C14orf105 55195 broad.mit.edu 37 14 57960231 57960231 + Nonsense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr14:57960231C>T uc010trl.1 - 0 346 c.203G>A c.(202-204)tGg>tAg p.W68* C14orf105_uc001xcy.2_Nonsense_Mutation_p.W68*|C14orf105_uc010trm.1_Splice_Site|C14orf105_uc010trn.1_5'UTR|C14orf105_uc001xcz.2_Nonsense_Mutation_p.W68*|C14orf105_uc010aox.1_Non-coding_Transcript|C14orf105_uc010aoy.2_Splice_Site NM_018168 NP_060638 Q9NVL8 CN105_HUMAN Homo sapiens chromosome 14 open reading frame 105 (C14orf105), mRNA. 68 breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1) 11 TCTTCCATACCAGTTTTCTTG 0.403000 88 4 0 0 0.009096 0 0 NCKAP5 344148 broad.mit.edu 37 2 133489468 133489468 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:133489468G>A uc002ttp.3 - 16 5659 c.5285C>T c.(5284-5286)tCt>tTt p.S1762F NCKAP5_uc002ttq.3_Missense_Mutation_p.S443F NM_207363 NP_997246 O14513 NCKP5_HUMAN Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA. 1762 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 TCTCATGGAAGAAACTGCAGA 0.587000 49 38 0 0 0.007835 0 0 CPEB1 64506 broad.mit.edu 37 15 83226583 83226583 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr15:83226583G>A uc002bit.3 - 3 850 c.713C>T c.(712-714)tCt>tTt p.S238F CPEB1_uc002bir.3_Missense_Mutation_p.S103F|CPEB1_uc002bis.3_Missense_Mutation_p.S103F|CPEB1_uc010uod.2_Intron|CPEB1_uc002biq.3_Missense_Mutation_p.S103F|CPEB1_uc010uoe.2_Missense_Mutation_p.S181F|CPEB1_uc002biu.3_Missense_Mutation_p.S205F|CPEB1_uc010uof.2_Missense_Mutation_p.S103F|CPEB1_uc002biv.3_Missense_Mutation_p.S178F|CPEB1_uc002bip.3_5'Flank NM_001079533 NP_001073001 Q9BZB8 CPEB1_HUMAN Homo sapiens cytoplasmic polyadenylation element binding protein 1 (CPEB1), transcript variant 2, mRNA. 178 mRNA processing|regulation of translation cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane RNA binding|nucleotide binding breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1) 28 BRCA - Breast invasive adenocarcinoma(143;0.229) GCTAGATCGAGAGTCCAGGAT 0.537000 41 34 0 0 0.012213 0 0 PHYHIPL 84457 broad.mit.edu 37 10 61004923 61004923 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr10:61004923G>A uc001jkk.4 + 4 969 c.703G>A c.(703-705)Gaa>Aaa p.E235K PHYHIPL_uc001jkl.4_Missense_Mutation_p.E189K|PHYHIPL_uc001jkm.4_Missense_Mutation_p.E209K NM_032439 NP_115815 Q96FC7 PHIPL_HUMAN Homo sapiens phytanoyl-CoA 2-hydroxylase interacting protein-like (PHYHIPL), transcript variant 1, mRNA. 235 p.E235D(1) NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(3)|skin(1)|urinary_tract(1) 18 CTGCAGCACTGAATTCAATAC 0.428000 19 21 0 0 0.002780 0 0 ANK3 288 broad.mit.edu 37 10 61830575 61830575 + Missense_Mutation SNP G T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr10:61830575G>T uc001jky.3 - 36 10402 c.10064C>A c.(10063-10065)tCc>tAc p.S3355Y ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron NM_020987 NP_066267 Q12955 ANK3_HUMAN Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA. 3355 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 TTTCTGGTTGGAAGCCTTTTC 0.383000 55 42 2.24893e-16 2.39409e-16 0.009718 1 0 ADCY8 114 broad.mit.edu 37 8 131916126 131916126 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr8:131916126G>A uc003ytd.4 - 6 2059 c.1803C>T c.(1801-1803)atC>atT p.I601I ADCY8_uc010mds.3_Silent_p.I601I NM_001115 NP_001106 P40145 ADCY8_HUMAN Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA. 601 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) ACTCCTTGACGATATCTTCAG 0.483000 HNSCC(32;0.087) 46 30 0 0 0.009535 0 0 INPP5D 3635 broad.mit.edu 37 2 233995348 233995348 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:233995348G>A uc010zmo.2 + 4 808 c.655G>A c.(655-657)Gag>Aag p.E219K INPP5D_uc010zmp.2_Missense_Mutation_p.E218K NM_001017915 NP_001017915 Q92835 SHIP1_HUMAN Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA. 219 T cell receptor signaling pathway|apoptosis|blood coagulation|leukocyte migration cytosol SH3 domain binding|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity central_nervous_system(1)|ovary(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) GCTCTGCAAGGAGCTCTATGG 0.577000 24 23 0 0 0.003954 0 0 ANO9 338440 broad.mit.edu 37 11 430322 430322 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:430322C>T uc001lpi.2 - 7 706 c.621G>A c.(619-621)acG>acA p.T207T ANO9_uc001lph.2_5'Flank|ANO9_uc010qvv.1_Silent_p.T63T NM_001012302 NP_001012302 A1A5B4 ANO9_HUMAN Homo sapiens anoctamin 9 (ANO9), mRNA. 207 chloride channel complex chloride channel activity central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4) 21 CTAAGAGGCCCGTCAGGGCGG 0.657000 5 14 0 0 0.001855 0 0 ZNF599 148103 broad.mit.edu 37 19 35251394 35251394 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:35251394G>A uc010edn.1 - 3 700 c.312C>T c.(310-312)ttC>ttT p.F104F ZNF599_uc010edm.2_Silent_p.F67F NM_001007248 NP_001007249 Q96NL3 ZN599_HUMAN Homo sapiens zinc finger protein 599 (ZNF599), mRNA. 104 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1) 24 all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.138) GAAGTTCCTGGAAAGAGGATT 0.438000 27 28 0 0 0.007291 0 0 PROS1 5627 broad.mit.edu 37 3 93605254 93605254 + Missense_Mutation SNP C G G TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:93605254C>G uc003drb.4 - 10 1590 c.1249G>C c.(1249-1251)Gaa>Caa p.E417Q PROS1_uc010hoo.3_Missense_Mutation_p.E286Q|PROS1_uc003dqz.4_Missense_Mutation_p.E286Q NM_000313 NP_000304 P07225 PROS_HUMAN Homo sapiens protein S (alpha) (PROS1), mRNA. 417 Laminin G-like 1. leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis Golgi lumen|Golgi membrane|endoplasmic reticulum membrane|extracellular region|platelet alpha granule lumen calcium ion binding|endopeptidase inhibitor activity endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1) 46 Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170) AATCCATTTTCCGGCTTAAAA 0.373000 110 59 0 0 0.014410 0 0 ZNF205 7755 broad.mit.edu 37 16 3168912 3168912 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr16:3168912C>T uc002cub.3 + 5 626 c.491C>T c.(490-492)cCc>cTc p.P164L ZNF205_uc002cua.3_Missense_Mutation_p.P164L NM_001042428 NP_003447 O95201 ZN205_HUMAN Homo sapiens zinc finger protein 205 (ZNF205), transcript variant 2, mRNA. 164 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 20 GCAGGCTTTCCCTTCAGCAGG 0.642000 63 62 0 0 0.014410 0 0 ZNF761 388561 broad.mit.edu 37 19 53959621 53959621 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:53959621C>T uc010eqp.3 + 6 2318 c.1860C>T c.(1858-1860)tcC>tcT p.S620S ZNF761_uc010ydy.2_Silent_p.S566S|ZNF761_uc002qbt.2_Silent_p.S566S NM_001008401 NP_001008401 Q86XN6 ZN761_HUMAN Homo sapiens zinc finger protein 761 (ZNF761), mRNA. 620 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(134;0.00786) GGACGTCATCCCTTACATGCC 0.398000 58 29 0 0 0.010818 0 0 GATAD2B 57459 broad.mit.edu 37 1 153800700 153800700 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:153800700G>A uc001fdb.4 - 1 368 c.124C>T c.(124-126)Cgt>Tgt p.R42C NM_020699 NP_065750 Q8WXI9 P66B_HUMAN Homo sapiens GATA zinc finger domain containing 2B (GATAD2B), mRNA. 42 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 38 all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) ATTTTCAGACGTTCCATGGCC 0.502000 115 65 0 0 0.014410 0 0 UGT2B28 54490 broad.mit.edu 37 4 70146759 70146759 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr4:70146759G>A uc003hej.3 + 0 543 c.541G>A c.(541-543)Gaa>Aaa p.E181K UGT2B28_uc010ihr.3_Missense_Mutation_p.E181K NM_053039 NP_444267 Q9BY64 UDB28_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA. 181 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 Flunitrazepam(DB01544) CTACACAATTGAAAGGCACAG 0.418000 46 45 0 0 0.010771 0 0 CATSPERB 79820 broad.mit.edu 37 14 92055895 92055895 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr14:92055895C>T uc001xzs.1 - 23 3079 c.2939G>A c.(2938-2940)aGg>aAg p.R980K CATSPERB_uc010aub.1_Missense_Mutation_p.R502K NM_024764 NP_079040 Q9H7T0 CTSRB_HUMAN Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA. 980 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2) 54 all_cancers(154;0.0663)|all_epithelial(191;0.236) CCAGTTGTGCCTCATGTTCAC 0.368000 30 18 0 0 0.012319 0 0 SCN11A 11280 broad.mit.edu 37 3 38926777 38926778 + Splice_Site DNP AC TT TT TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:38926777_38926778AC>TT uc021wvy.1 - 17 3263 c.3064_splice c.e17+1 p.G1022_splice SCN11A_uc010hhn.1_Splice_Site_p.G100_splice NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA. 1022 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) ACTGCCACTTACCTTTGGGCAA 0.411000 15 16 0 0 0.004672 0 0 SVEP1 79987 broad.mit.edu 37 9 113192700 113192700 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr9:113192700G>A uc010mtz.3 - 32 5721 c.5384C>T c.(5383-5385)cCg>cTg p.P1795L SVEP1_uc010mty.3_5'Flank NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA. 1795 Sushi 7. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 GCCATTTTCCGGATTTCCTGG 0.423000 17 7 0 0 0.001984 0 0 RBP4 5950 broad.mit.edu 37 10 95360699 95360699 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr10:95360699G>A uc001kit.3 - 1 171 c.87C>T c.(85-87)gtC>gtT p.V29V NM_006744 NP_006735 P02753 RET4_HUMAN Homo sapiens retinol binding protein 4, plasma (RBP4), mRNA. 29 cardiac muscle tissue development|embryonic organ morphogenesis|embryonic retina morphogenesis in camera-type eye|embryonic skeletal system development|female genitalia morphogenesis|gluconeogenesis|glucose homeostasis|heart trabecula formation|lung development|maintenance of gastrointestinal epithelium|negative regulation of cardiac muscle cell proliferation|positive regulation of immunoglobulin secretion|positive regulation of insulin secretion|response to retinoic acid|retinol metabolic process|urinary bladder development|uterus development|vagina development extracellular space protein binding|retinal binding|retinol binding large_intestine(1)|lung(3)|skin(1) 5 Colorectal(252;0.122) Vitamin A(DB00162) AGTTCTCCTTGACTCGGAAGC 0.716000 22 14 0 0 0.002450 0 0 CHD5 26038 broad.mit.edu 37 1 6209357 6209357 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:6209357C>T uc001amb.2 - 7 1221 c.1110G>A c.(1108-1110)ctG>ctA p.L370L CHD5_uc001amc.1_5'Flank NM_015557 NP_056372 Q8TDI0 CHD5_HUMAN Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA. 370 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 16 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) GCTCTGGGTCCAGGCATACGA 0.657000 14 8 0 0 0.003080 0 0 IL1F10 84639 broad.mit.edu 37 2 113832361 113832361 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:113832361G>A uc002tiu.3 + 3 255 c.180G>A c.(178-180)ggG>ggA p.G60G IL1F10_uc002tiv.3_Silent_p.G60G|IL1F10_uc002tiw.3_Silent_p.G52G NM_173161 NP_775184 Q8WWZ1 IL1FA_HUMAN Homo sapiens interleukin 1 family, member 10 (theta) (IL1F10), transcript variant 2, mRNA. 60 extracellular space cytokine activity|interleukin-1 receptor antagonist activity endometrium(1)|lung(6)|ovary(1) 8 TTTTCCTGGGGATCCAGGGAG 0.582000 47 41 0 0 0.007835 0 0 FAT3 120114 broad.mit.edu 37 11 92523187 92523187 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:92523187G>A uc001pdj.4 + 6 4431 c.4414G>A c.(4414-4416)Gat>Aat p.D1472N NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA. 1472 Cadherin 14. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) AATTTCCGAGGATGTGCTTCC 0.428000 TCGA Ovarian(4;0.039) 225 155 0 0 0.014410 0 0 abParts 0 broad.mit.edu 37 14 106757836 106757836 + RNA SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr14:106757836C>T uc021ser.1 - 749 c.19542G>A Parts of antibodies, mostly variable regions. GCTGACGGATCCAGCTCACAC 0.547000 37 12 0 0 0.013537 0 0 KIAA1644 85352 broad.mit.edu 37 22 44681538 44681538 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr22:44681538C>T uc003bet.2 - 3 502 c.369G>A c.(367-369)atG>atA p.M123I NM_001099294 NP_001092764 Q3SXP7 K1644_HUMAN Homo sapiens KIAA1644 (KIAA1644), mRNA. 123 integral to membrane p.A122T(1) breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1) 9 all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222) TGTCGTAGTTCATTGCCGAGT 0.552000 82 64 0 0 0.014410 0 0 ZNF99 7652 broad.mit.edu 37 19 22941701 22941701 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:22941701C>T uc021urt.1 - 3 1165 c.1010G>A c.(1009-1011)gGa>gAa p.G337E NM_001080409 NP_001073878 Homo sapiens zinc finger protein 99 (ZNF99), mRNA. NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) GGGTTTCTTTCCAGTATGAAT 0.373000 16 14 0 0 0.003163 0 0 OR7E24 26648 broad.mit.edu 37 19 9361804 9361804 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:9361804G>A uc002mlb.1 + 0 85 c.85G>A c.(85-87)Gaa>Aaa p.E29K NM_001079935 NP_001073404 Q6IFN5 O7E24_HUMAN Homo sapiens olfactory receptor, family 7, subfamily E, member 24 (OR7E24), mRNA. 29 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2) 16 AGGTGTCTCAGAATTCCTCCT 0.502000 14 11 0 0 0.010729 0 0 ATR 545 broad.mit.edu 37 3 142254971 142254971 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:142254971G>A uc003eux.4 - 19 3920 c.3798C>T c.(3796-3798)gcC>gcT p.A1266A NM_001184 NP_001175 Q13535 ATR_HUMAN Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA. 1266 DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4) 122 CCTGGAGAACGGCTTTTATCT 0.289000 Other conserved DNA damage response genes 44 22 0 0 0.012319 0 0 APC 324 broad.mit.edu 37 5 112174607 112174607 + Nonsense_Mutation SNP G T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr5:112174607G>T uc003kpz.4 + 16 3509 c.3316G>T c.(3316-3318)Gga>Tga p.G1106* APC_uc011cvt.2_Nonsense_Mutation_p.G1088*|APC_uc003kpy.4_Nonsense_Mutation_p.G1106*|APC_uc010jbz.3_Nonsense_Mutation_p.G823*|APC_uc010jca.3_Nonsense_Mutation_p.G406* NM_001127510 NP_001120982 P25054 APC_HUMAN Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA. 1106 Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|adherens junction|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.R1105W(2)|p.G1106*(2)|p.G1106fs*20(1)|p.?(1) NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20) 3261 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) CAGGTCACGGGGAGCCAATGG 0.393000 12 """D, Mis, N, F, S""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis TSP Lung(16;0.13) 6 18 1.67942e-08 1.76535e-08 0.006122 1 0 MYH13 8735 broad.mit.edu 37 17 10263492 10263492 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:10263492C>T uc002gmk.1 - 5 609 c.519G>A c.(517-519)caG>caA p.Q173Q NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA. 173 Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 TGAGGATAGACTGGTTGTCTC 0.403000 15 14 0 0 0.001855 0 0 TNFSF4 7292 broad.mit.edu 37 1 173176313 173176313 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:173176313C>T uc001giw.3 - 0 159 c.3G>A c.(1-3)atG>atA p.M1I TNFSF4_uc001giv.3_5'Flank NM_003326 NP_003317 P23510 TNFL4_HUMAN Homo sapiens tumor necrosis factor (ligand) superfamily, member 4 (TNFSF4), mRNA. 1 T-helper 2 cell activation|acute inflammatory response|cellular response to lipopolysaccharide|cellular response to prostaglandin E stimulus|chemokine (C-C motif) ligand 11 production|defense response to nematode|interleukin-4-dependent isotype switching to IgE isotypes|memory T cell activation|negative regulation of T-helper 1 cell differentiation|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of regulatory T cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell activation|positive regulation of T cell cytokine production|positive regulation of T-helper 2 cell differentiation|positive regulation of alpha-beta T cell proliferation|positive regulation of immunoglobulin mediated immune response|positive regulation of immunoglobulin secretion|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-6 production|positive regulation of memory T cell differentiation|positive regulation of type 2 immune response|response to virus|signal transduction cell surface|extracellular space|integral to plasma membrane cytokine activity breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1) 12 GGACCCTTTCCATCTTCACAA 0.473000 46 28 0 0 0.008361 0 0 FAM47B 170062 broad.mit.edu 37 X 34961495 34961495 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chrX:34961495C>T uc004ddi.2 + 0 583 c.547C>T c.(547-549)Ccc>Tcc p.P183S NM_152631 NP_689844 Q8NA70 FA47B_HUMAN Homo sapiens family with sequence similarity 47, member B (FAM47B), mRNA. 183 p.P183P(1) breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 71 TGGTAAATATCCCTGTGGGGA 0.642000 5 15 0 0 0.004007 0 0 FAH 2184 broad.mit.edu 37 15 80473403 80473403 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr15:80473403C>T uc002bfm.2 + 12 1246 c.1082C>T c.(1081-1083)tCc>tTc p.S361F FAH_uc002bfn.2_Missense_Mutation_p.S291F|FAH_uc010bln.1_Non-coding_Transcript|FAH_uc010blo.1_Non-coding_Transcript NM_000137 NP_000128 P16930 FAAA_HUMAN Homo sapiens fumarylacetoacetate hydrolase (fumarylacetoacetase) (FAH), mRNA. 361 L-phenylalanine catabolic process|tyrosine catabolic process cytosol fumarylacetoacetase activity|metal ion binding endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 AACTTCGGCTCCATGTTGGAA 0.502000 Tyrosinemia, type 1 24 26 0 0 0.007291 0 0 COL19A1 1310 broad.mit.edu 37 6 70897937 70897937 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:70897937C>T uc003pfc.1 + 46 3132 c.3015C>T c.(3013-3015)atC>atT p.I1005I NM_001858 NP_001849 Q14993 COJA1_HUMAN Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA. 1005 Triple-helical region 5 (COL5). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 109 CTCCAGGCATCCCTGGCATTC 0.542000 12 15 0 0 0.003163 0 0 L3MBTL2 83746 broad.mit.edu 37 22 41620754 41620754 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr22:41620754C>T uc003azo.3 + 9 1254 c.1200C>T c.(1198-1200)caC>caT p.H400H L3MBTL2_uc010gyi.1_Silent_p.H309H|L3MBTL2_uc003azn.3_Non-coding_Transcript NM_031488 NP_113676 Q969R5 LMBL2_HUMAN Homo sapiens l(3)mbt-like 2 (Drosophila) (L3MBTL2), mRNA. 400 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus methylated histone residue binding|transcription corepressor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 TGGCCCATCACCCCACCTTCC 0.572000 22 19 0 0 0.002780 0 0 SEC24B 10427 broad.mit.edu 37 4 110451530 110451530 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr4:110451530C>T uc003hzk.3 + 18 3217 c.3162C>T c.(3160-3162)ggC>ggT p.G1054G SEC24B_uc003hzl.3_Silent_p.G1019G|SEC24B_uc011cfp.2_Silent_p.G1084G|SEC24B_uc011cfq.2_Silent_p.G1053G|SEC24B_uc011cfr.2_Silent_p.G1018G NM_006323 NP_006314 O95487 SC24B_HUMAN Homo sapiens SEC24 family, member B (S. cerevisiae) (SEC24B), transcript variant 1, mRNA. 1054 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm protein binding|transporter activity|zinc ion binding p.T1054T(1) breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;3.03e-05) CTGCATATGGCTCAACTGTCT 0.453000 33 31 0 0 0.009535 0 0 GUCY2F 2986 broad.mit.edu 37 X 108641814 108641814 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chrX:108641814C>T uc022cch.1 - 9 2324 c.2239G>A c.(2239-2241)Ggt>Agt p.G747S GUCY2F_uc011msq.2_Non-coding_Transcript|GUCY2F_uc004eod.4_Missense_Mutation_p.G747S NM_001522 NP_001513 P51841 GUC2F_HUMAN Homo sapiens guanylate cyclase 2F, retinal (GUCY2F), mRNA. 747 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 AATGGGGTACCCCGGACCATC 0.537000 4 32 0 0 0.009535 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140782949 140782949 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr5:140782949G>A uc003lkh.2 + 0 430 c.430G>A c.(430-432)Gaa>Aaa p.E144K PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc011dax.2_Missense_Mutation_p.E144K NM_018921 NP_061744 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 9 (PCDHGA9), transcript variant 1, mRNA. 144 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAAAATTAACGAAATCGCGGT 0.473000 15 43 0 0 0.007835 0 0 OR9A4 130075 broad.mit.edu 37 7 141619141 141619141 + Nonsense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr7:141619141C>T uc003vwu.1 + 0 466 c.466C>T c.(466-468)Caa>Taa p.Q156* NM_001001656 NP_001001656 Q8NGU2 OR9A4_HUMAN Homo sapiens olfactory receptor, family 9, subfamily A, member 4 (OR9A4), mRNA. 156 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2) 22 Melanoma(164;0.0171) GTTTCTTTTTCAAATCTGGCC 0.413000 88 66 0 0 0.014410 0 0 APBB1IP 54518 broad.mit.edu 37 10 26825083 26825083 + Nonsense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr10:26825083G>A uc001iss.3 + 9 1302 c.981G>A c.(979-981)tgG>tgA p.W327* APBB1IP_uc009xks.1_Nonsense_Mutation_p.W327* NM_019043 NP_061916 Q7Z5R6 AB1IP_HUMAN Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein (APBB1IP), mRNA. 327 PH. blood coagulation|signal transduction cytoskeleton|cytosol|focal adhesion|lamellipodium central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1) 45 AGAAATCCTGGAAAAGGCGCT 0.363000 86 53 0 0 0.014410 0 0 WNK2 65268 broad.mit.edu 37 9 96080313 96080313 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr9:96080313C>T uc011lud.1 + 28 6632 c.6632C>T c.(6631-6633)tCc>tTc p.S2211F WNK2_uc004atj.3_Intron|WNK2_uc004atk.3_3'UTR NM_006648 NP_006639 Q9Y3S1 WNK2_HUMAN Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA. 0 intracellular protein kinase cascade ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2) 54 CTCCTAGGTTCCTGTGGTCCA 0.597000 41 37 0 0 0.014410 0 0 SPANXN3 139067 broad.mit.edu 37 X 142596928 142596928 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chrX:142596928C>T uc004fbw.3 - 1 230 c.142G>A c.(142-144)Gaa>Aaa p.E48K NM_001009609 NP_001009609 Q5MJ09 SPXN3_HUMAN Homo sapiens SPANX family, member N3 (SPANXN3), mRNA. 48 endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1) 14 Acute lymphoblastic leukemia(192;6.56e-05) ATTGGATATTCTGATGTTTTT 0.378000 3 40 0 0 0.008740 0 0 ENPP4 22875 broad.mit.edu 37 6 46107658 46107658 + Nonsense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:46107658G>A uc003oxy.3 + 1 597 c.338G>A c.(337-339)tGg>tAg p.W113* NM_014936 NP_055751 Q9Y6X5 ENPP4_HUMAN Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative) (ENPP4), mRNA. 113 integral to membrane hydrolase activity p.W112S(1) central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 18 CCTTTTTGGTGGAATGAGGCA 0.443000 44 22 0 0 0.012319 0 0 LILRP2 79166 broad.mit.edu 37 19 55220543 55220543 + RNA SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:55220543G>A uc002qgs.1 + 0 c.943G>A LILRP2_uc002qgt.1_Non-coding_Transcript Homo sapiens leukocyte immunoglobulin-like receptor pseudogene 2 (LILRP2), non-coding RNA. GCCCACCAGAGCCCAGGAACA 0.572000 8 4 0 0 0.009096 0 0 TTN 7273 broad.mit.edu 37 2 179469891 179469891 + Missense_Mutation SNP T A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:179469891T>A uc021vsy.1 - 228 46534 c.46309A>T c.(46309-46311)Act>Tct p.T15437S MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Non-coding_Transcript|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.T9132S|TTN_uc021vta.1_Missense_Mutation_p.T9065S|TTN_uc021vtb.1_Missense_Mutation_p.T8940S NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 16364 Fibronectin type-III 12. 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) TCAATTACAGTTTCATTTTTG 0.468000 23 27 0 0 0.004656 0 0 DDIT3 1649 broad.mit.edu 37 12 57911162 57911162 + Missense_Mutation SNP A C C TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:57911162A>C uc009zpt.3 - 2 365 c.97T>G c.(97-99)Ttc>Gtc p.F33V MARS_uc001sof.1_Non-coding_Transcript|DDIT3_uc001soi.3_Missense_Mutation_p.F10V|DDIT3_uc021qzj.1_Missense_Mutation_p.F10V|DDIT3_uc021qzk.1_Missense_Mutation_p.F33V|DDIT3_uc021qzl.1_Missense_Mutation_p.F33V|DDIT3_uc009zps.3_Missense_Mutation_p.F33V NM_001195053 NP_001181982 P35638 DDIT3_HUMAN Homo sapiens DNA-damage-inducible transcript 3 (DDIT3), transcript variant 1, mRNA. 10 cell cycle arrest|cell redox homeostasis|mRNA transcription from RNA polymerase II promoter|negative regulation of determination of dorsal identity|regulation of DNA-dependent transcription in response to stress|response to DNA damage stimulus nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding p.D32Y(1) EWSR1/DDIT3(45)|FUS/DDIT3(631) central_nervous_system(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1) 16 AGTGTCCCGAAGGAGAAAGGC 0.527000 T FUS liposarcoma 36 22 0 0 0.012319 0 0 SIN3B 23309 broad.mit.edu 37 19 16952673 16952673 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:16952673C>T uc002ney.2 + 3 499 c.476C>T c.(475-477)tCc>tTc p.S159F SIN3B_uc002new.3_Missense_Mutation_p.S159F|SIN3B_uc002nez.2_Missense_Mutation_p.S159F NM_015260 NP_056075 O75182 SIN3B_HUMAN Homo sapiens SIN3 transcription regulator homolog B (yeast) (SIN3B), mRNA. 159 PAH 2. cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm protein binding endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 26 GAGTCCGATTCCGTGGAATTC 0.522000 23 27 0 0 0.004656 0 0 STAB2 55576 broad.mit.edu 37 12 103984798 103984798 + Nonsense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:103984798C>T uc001tjw.3 + 1 391 c.205C>T c.(205-207)Cga>Tga p.R69* NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN Homo sapiens stabilin 2 (STAB2), mRNA. 69 angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 TGTAGGGGTTCGAGATTGCAG 0.458000 41 33 0 0 0.004878 0 0 SLC22A25 387601 broad.mit.edu 37 11 62948233 62948233 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:62948233G>A uc001nwr.1 - 5 969 c.969C>T c.(967-969)acC>acT p.T323T SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_Non-coding_Transcript|SLC22A25_uc001nws.1_Non-coding_Transcript|SLC22A25_uc001nwt.1_Silent_p.T323T NM_199352 NP_955384 Q6T423 S22AP_HUMAN Homo sapiens solute carrier family 22, member 25 (SLC22A25), mRNA. 323 transmembrane transport integral to membrane NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7) 34 CTTGCTTCATGGTGGATTTCA 0.398000 20 22 0 0 0.014323 0 0 SIGLEC12 89858 broad.mit.edu 37 19 51995067 51995067 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:51995067G>A uc002pwx.1 - 7 1672 c.1616C>T c.(1615-1617)tCc>tTc p.S539F SIGLEC12_uc002pww.1_Missense_Mutation_p.S421F|SIGLEC12_uc010eoy.1_Missense_Mutation_p.S266F NM_053003 NP_443729 Q96PQ1 SIG12_HUMAN Homo sapiens sialic acid binding Ig-like lectin 12 (gene/pseudogene) (SIGLEC12), transcript variant 1, mRNA. 539 cell adhesion integral to membrane sugar binding NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2) 61 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102) ATCTGCCGGGGATTCAATCAG 0.612000 20 25 0 0 0.004656 0 0 NUP210 23225 broad.mit.edu 37 3 13377097 13377097 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:13377097G>A uc003bxv.1 - 27 3783 c.3700C>T c.(3700-3702)Ccg>Tcg p.P1234S NM_024923 NP_079199 Q8TEM1 PO210_HUMAN Homo sapiens nucleoporin 210kDa (NUP210), mRNA. 1234 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore p.P1234S(2)|p.P1234Q(1) NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_neural(104;0.187) TACTGTGACGGGAGTCGGATC 0.612000 35 18 0 0 0.008871 0 0 MAP3K14 9020 broad.mit.edu 37 17 43347910 43347910 + Silent SNP A G G TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:43347910A>G uc002iiw.1 - 11 1948 c.1839T>C c.(1837-1839)ccT>ccC p.P613P MAP3K14_uc002iiu.1_Silent_p.P144P|MAP3K14_uc010daj.1_Non-coding_Transcript|MAP3K14_uc002iiv.1_Silent_p.P198P NM_003954 NP_003945 Q99558 M3K14_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 14 (MAP3K14), mRNA. 614 Interaction with ZFP91.|Protein kinase. I-kappaB kinase/NF-kappaB cascade|T cell costimulation|cellular response to mechanical stimulus|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade cytosol ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding p.P613P(1) breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 27 TCTCCCTCACAGGCGGAGGCT 0.622000 22 12 0 0 0.013537 0 0 abParts 0 broad.mit.edu 37 14 106405597 106405597 + Splice_Site SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr14:106405597C>T uc021ser.1 - 3034 c.50196_splice c.e3034+1 Parts of antibodies, mostly variable regions. ACACTGACTTCCCCTCACTGT 0.582000 44 33 0 0 0.003271 0 0 BAI3 577 broad.mit.edu 37 6 70071218 70071218 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:70071218G>A uc010kak.3 + 27 4329 c.4053G>A c.(4051-4053)atG>atA p.M1351I BAI3_uc003pev.4_Missense_Mutation_p.M1351I|BAI3_uc011dxx.2_Missense_Mutation_p.M557I NM_001704 NP_001695 O60242 BAI3_HUMAN Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA. 1351 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) AATTCAATATGAATCCCCCTG 0.428000 54 45 0 0 0.014410 0 0 AHNAK 79026 broad.mit.edu 37 11 62303492 62303492 + Nonsense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:62303492G>A uc001ntl.3 - 2 379 c.79C>T c.(79-81)Cag>Tag p.Q27* AHNAK_uc001ntk.1_Nonsense_Mutation_p.Q27* NM_001620 NP_001611 Q09666 AHNK_HUMAN Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA. 27 PDZ. nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) TCGTCCCTCTGGGCGATGGTC 0.642000 23 21 0 0 0.003330 0 0 CYP4F2 8529 broad.mit.edu 37 19 15989695 15989695 + Silent SNP C G G TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:15989695C>G uc002nbs.1 - 12 1499 c.1449G>C c.(1447-1449)gcG>gcC p.A483A CYP4F2_uc010xot.1_Silent_p.A334A NM_001082 NP_001073 P78329 CP4F2_HUMAN Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 2 (CYP4F2), mRNA. 483 leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding p.A483A(2)|p.A483G(1) NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 GCAGCGTGAGCGCCAGGACCA 0.682000 41 16 0 0 0.004990 0 0 NDRG1 10397 broad.mit.edu 37 8 134251180 134251180 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr8:134251180G>A uc003yuh.2 - 15 1712 c.1126C>T c.(1126-1128)Ccc>Tcc p.P376S NDRG1_uc003yue.1_Missense_Mutation_p.P91S|NDRG1_uc003yuf.1_Missense_Mutation_p.P187S|NDRG1_uc003yug.2_Missense_Mutation_p.P376S|NDRG1_uc010mee.2_Missense_Mutation_p.P295S|NDRG1_uc010mef.2_Missense_Mutation_p.P310S|NDRG1_uc011ljh.1_Missense_Mutation_p.P204S|NDRG1_uc011lji.1_Missense_Mutation_p.P123S|NDRG1_uc003yui.1_Intron NM_001135242 NP_006087 Q92597 NDRG1_HUMAN Homo sapiens N-myc downstream regulated 1 (NDRG1), transcript variant 1, mRNA. 376 cellular response to hypoxia|response to metal ion cytoplasm|microtubule cytoskeleton|nucleus|plasma membrane protein binding NDRG1/ERG(5) endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(4)|prostate(1)|skin(1) 17 all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0107) CCCGAGTTGGGGGTGATGTCC 0.711000 T ERG prostate 5 4 0 0 0.009096 0 0 CABP2 51475 broad.mit.edu 37 11 67286622 67286622 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:67286622C>T uc001ome.1 - 6 757 c.669G>A c.(667-669)atG>atA p.M223I CABP2_uc001omc.1_Missense_Mutation_p.M217I Q9NPB3 CABP2_HUMAN Homo sapiens calcium binding protein 2 (CABP2), mRNA. 217 signal transduction Golgi apparatus|perinuclear region of cytoplasm|plasma membrane calcium ion binding endometrium(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2) 9 ACCGAGACATCATTCGCACAA 0.572000 27 18 0 0 0.008871 0 0 MYH15 22989 broad.mit.edu 37 3 108133252 108133252 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:108133252G>A uc003dxa.1 - 30 4089 c.4032C>T c.(4030-4032)gcC>gcT p.A1344A NM_014981 NP_055796 Q9Y2K3 MYH15_HUMAN Homo sapiens myosin, heavy chain 15 (MYH15), mRNA. 1344 myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 CCTTCTGCAGGGCATGGGCCA 0.488000 19 16 0 0 0.004007 0 0 PGLYRP4 57115 broad.mit.edu 37 1 153303307 153303307 + Missense_Mutation SNP C T T rs147105602 TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:153303307C>T uc001fbo.3 - 8 1123 c.1058G>A c.(1057-1059)cGa>cAa p.R353Q PGLYRP4_uc001fbp.3_Missense_Mutation_p.R349Q NM_020393 NP_065126 Q96LB8 PGRP4_HUMAN Homo sapiens peptidoglycan recognition protein 4 (PGLYRP4), mRNA. 353 Interaction with murein. defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding p.R353Q(2) breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1) 23 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) AGACAAGGTTCGGGCCACATC 0.562000 49 43 0 0 0.009718 0 0 abParts 0 broad.mit.edu 37 14 106877887 106877887 + RNA SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr14:106877887C>T uc021ser.1 - 409 c.13038G>A Parts of antibodies, mostly variable regions. CTTCACCAGTCCTGGGCCCGA 0.607000 29 25 0 0 0.004656 0 0 ABCB1 5243 broad.mit.edu 37 7 87168615 87168615 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr7:87168615C>T uc003uiz.2 - 19 2859 c.2366G>A c.(2365-2367)cGa>cAa p.R789Q ABCB1_uc011khc.2_Missense_Mutation_p.R725Q NM_000927 NP_000918 P08183 MDR1_HUMAN Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA. 789 ABC transmembrane type-1 2. G2/M transition of mitotic cell cycle|stem cell proliferation Golgi membrane|apical plasma membrane|cell surface|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity p.R789*(1) NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) AACCATGTATCGGAGCCGCTT 0.522000 39 45 0 0 0.014410 0 0 NFKB1 4790 broad.mit.edu 37 4 103537644 103537644 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr4:103537644C>T uc011ceq.2 + 23 3267 c.2800C>T c.(2800-2802)Cgc>Tgc p.R934C NFKB1_uc011cep.2_Missense_Mutation_p.R935C|NFKB1_uc011cer.2_Missense_Mutation_p.R754C NM_001165412 NP_001158884 P19838 NFKB1_HUMAN Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (NFKB1), transcript variant 2, mRNA. 934 Interaction with CFLAR. MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of transcription, DNA-dependent|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter I-kappaB/NF-kappaB complex|cytosol|mitochondrion|nucleoplasm protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 27 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;6.59e-08) Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041) GACATCCTTCCGCAAACTCAG 0.542000 63 46 0 0 0.014410 0 0 OTUD7A 161725 broad.mit.edu 37 15 31779660 31779660 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr15:31779660C>T uc001zfq.3 - 8 1353 c.1260G>A c.(1258-1260)ctG>ctA p.L420L OTUD7A_uc001zfr.3_Silent_p.L427L NM_130901 NP_570971 Q8TE49 OTU7A_HUMAN Homo sapiens OTU domain containing 7A (OTUD7A), mRNA. 420 Catalytic (By similarity). cytoplasm|nucleus DNA binding|cysteine-type peptidase activity|zinc ion binding endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 all_lung(180;1.6e-09) all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208) CTTACTGGGCCAGCCGGGCGT 0.622000 12 4 0 0 0.009096 0 0 MAMDC2 256691 broad.mit.edu 37 9 72785459 72785459 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr9:72785459G>A uc004ahm.2 + 10 2180 c.1563G>A c.(1561-1563)gaG>gaA p.E521E MAMDC2_uc004ahn.2_Non-coding_Transcript|LOC100507244_uc004aho.1_Intron|LOC100507244_uc004ahp.1_Non-coding_Transcript NM_153267 NP_694999 Q7Z304 MAMC2_HUMAN Homo sapiens MAM domain containing 2 (MAMDC2), mRNA. 521 MAM 4. endoplasmic reticulum|membrane breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1) 14 TTACTCAGGAGAAAAGAAACC 0.488000 39 24 0 0 0.005443 0 0 ST6GALNAC1 55808 broad.mit.edu 37 17 74621517 74621517 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:74621517G>A uc002jsh.3 - 8 1872 c.1698C>T c.(1696-1698)aaC>aaT p.N566N ST6GALNAC1_uc002jsi.3_Silent_p.N434N|ST6GALNAC1_uc002jsj.3_Non-coding_Transcript NM_018414 NP_060884 Q9NSC7 SIA7A_HUMAN Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 (ST6GALNAC1), mRNA. 566 protein glycosylation integral to Golgi membrane alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1) 22 TGAAGTCATGGTTTATGTAAA 0.493000 34 23 0 0 0.003330 0 0 PRIM2 5558 broad.mit.edu 37 6 57246869 57246869 + Missense_Mutation SNP A C C TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:57246869A>C uc003pdx.3 + 6 683 c.596A>C c.(595-597)aAa>aCa p.K199T PRIM2_uc003pdw.3_Missense_Mutation_p.K199T NM_000947 NP_000938 P49643 PRI2_HUMAN Homo sapiens primase, DNA, polypeptide 2 (58kDa) (PRIM2), mRNA. 199 DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|nucleoplasm 4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1) 59 Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193) CGAGGAAGGAAAGTCTATTTG 0.408000 45 12 0 0 0.013537 0 0 CTNNA1 1495 broad.mit.edu 37 5 138260979 138260979 + Silent SNP C T T rs142503438 byFrequency TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr5:138260979C>T uc003ldh.3 + 12 1877 c.1782C>T c.(1780-1782)gcC>gcT p.A594A CTNNA1_uc011cyx.2_Silent_p.A491A|CTNNA1_uc011cyy.2_Silent_p.A471A|CTNNA1_uc003ldi.3_Silent_p.A292A|CTNNA1_uc003ldj.3_Silent_p.A594A|CTNNA1_uc003ldl.3_Silent_p.A224A NM_001903 NP_001894 P35221 CTNA1_HUMAN Homo sapiens catenin (cadherin-associated protein), alpha 1, 102kDa (CTNNA1), mRNA. 594 adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation actin cytoskeleton|catenin complex|cytosol beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding p.A594V(1) NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 52 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) TAGAAGCAGCCGTGGAAGCCC 0.557000 4 28 0 0 0.007291 0 0 RFX6 222546 broad.mit.edu 37 6 117248364 117248364 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:117248364C>T uc003pxm.3 + 16 2123 c.2060C>T c.(2059-2061)cCc>cTc p.P687L NM_173560 NP_775831 Q8HWS3 RFX6_HUMAN Homo sapiens regulatory factor X, 6 (RFX6), mRNA. 687 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding p.P687L(2) cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 59 CCCATTTATCCCACTCTCCCT 0.522000 49 34 0 0 0.003271 0 0 EGFR 1956 broad.mit.edu 37 7 55211097 55211097 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr7:55211097G>A uc003tqk.3 + 2 586 c.340G>A c.(340-342)Gaa>Aaa p.E114K EGFR_uc003tqh.3_Missense_Mutation_p.E114K|EGFR_uc003tqi.3_Missense_Mutation_p.E114K|EGFR_uc003tqj.3_Missense_Mutation_p.E114K|EGFR_uc022adm.1_Missense_Mutation_p.E114K|EGFR_uc010kzg.2_Missense_Mutation_p.E114K|EGFR_uc022adn.1_Missense_Mutation_p.E114K|EGFR_uc011kco.2_Missense_Mutation_p.E61K NM_005228 NP_005219 P00533 EGFR_HUMAN Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA. 114 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.V30_R297>G(5)|p.E114K(3) NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) TATGTACTACGAAAATTCCTA 0.458000 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 51 27 0 0 0.005443 0 0 ALB 213 broad.mit.edu 37 4 74276095 74276095 + Missense_Mutation SNP C A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr4:74276095C>A uc003hgs.4 + 5 755 c.682C>A c.(682-684)Caa>Aaa p.Q228K ALB_uc011cbe.2_5'UTR|ALB_uc003hgw.4_Intron|ALB_uc011cbf.2_Missense_Mutation_p.Q118K NM_000477 NP_000468 P02768 ALBU_HUMAN Homo sapiens albumin (ALB), mRNA. 228 Albumin 2. bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport extracellular space|platelet alpha granule lumen|protein complex DNA binding|antioxidant activity|chaperone binding|copper ion binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1) 48 Breast(15;0.00102) Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137) TGCCAGTCTCCAAAAATTTGG 0.363000 43 31 2.49534e-26 2.67832e-26 0.010818 1 0 LRIG1 26018 broad.mit.edu 37 3 66432709 66432709 + Missense_Mutation SNP T A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:66432709T>A uc003dmx.3 - 15 2619 c.2605A>T c.(2605-2607)Att>Ttt p.I869F SLC25A26_uc011bft.2_Intron|LRIG1_uc011bfu.2_Missense_Mutation_p.I489F|LRIG1_uc003dmw.3_Missense_Mutation_p.I535F|LRIG1_uc010hnz.3_Missense_Mutation_p.I585F|LRIG1_uc010hoa.3_Missense_Mutation_p.I846F NM_015541 NP_056356 Q96JA1 LRIG1_HUMAN Homo sapiens leucine-rich repeats and immunoglobulin-like domains 1 (LRIG1), mRNA. 869 integral to membrane NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1) 42 Lung NSC(201;0.0101) BRCA - Breast invasive adenocarcinoma(55;0.00047) TTGCTCTCAATGTGCCCATTG 0.572000 60 43 0 0 0.011902 0 0 ALDH3B2 222 broad.mit.edu 37 11 67430692 67430692 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:67430692G>A uc001omr.3 - 9 1591 c.1152C>T c.(1150-1152)ctC>ctT p.L384L ALDH3B2_uc001oms.3_Silent_p.L384L NM_000695 NP_001026786 P48448 AL3B2_HUMAN Homo sapiens aldehyde dehydrogenase 3 family, member B2 (ALDH3B2), transcript variant 1, mRNA. 384 alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process 3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1) 18 NADH(DB00157) ACGCTCACAGGAGGGTGCAGC 0.587000 86 71 0 0 0.014410 0 0 SLC38A9 153129 broad.mit.edu 37 5 54993677 54993677 + Missense_Mutation SNP T A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr5:54993677T>A uc003jqf.2 - 2 702 c.110A>T c.(109-111)aAa>aTa p.K37I SLC38A9_uc010ivy.2_5'UTR NM_173514 NP_775785 Q8NBW4 S38A9_HUMAN Homo sapiens solute carrier family 38, member 9 (SLC38A9), mRNA. 37 amino acid transport|sodium ion transport integral to membrane endometrium(1)|kidney(1)|large_intestine(3)|lung(3) 8 Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181) TGCTTACCTTTTGGATCTTAG 0.313000 4 20 0 0 0.012319 0 0 OR2A7 401427 broad.mit.edu 37 7 143956032 143956032 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr7:143956032C>T uc011kuc.2 - 0 690 c.690G>A c.(688-690)agG>agA p.R230R OR2A9P_uc003wec.1_Intron|OR2A9P_uc003wed.3_5'Flank NM_001005328 NP_001005328 Q96R45 OR2A7_HUMAN Homo sapiens olfactory receptor, family 2, subfamily A, member 7 (OR2A7), mRNA. 230 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(1)|lung(3)|ovary(1) 6 Melanoma(164;0.14) TCTGAACTTCCCTTGATTGGA 0.478000 77 42 0 0 0.014410 0 0 MYO1A 4640 broad.mit.edu 37 12 57424938 57424938 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:57424938C>T uc001smw.4 - 22 2610 c.2370G>A c.(2368-2370)ggG>ggA p.G790G MYO1A_uc010sqz.2_Silent_p.G628G|MYO1A_uc009zpd.3_Silent_p.G790G NM_005379 NP_005370 Q9UBC5 MYO1A_HUMAN Homo sapiens myosin IA (MYO1A), transcript variant 2, mRNA. 790 sensory perception of sound|vesicle localization brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex ATP binding|actin binding|calmodulin binding|motor activity breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3) 50 TGTTCTTCAGCCCCAGTAGGA 0.527000 57 35 0 0 0.004289 0 0 RALY 22913 broad.mit.edu 37 20 32661652 32661653 + Missense_Mutation DNP CC TT TT TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr20:32661652_32661653CC>TT uc002xab.3 + 4 929_930 c.357_358CC>TT c.(355-360)taccgg>taTTgg p.R120W RALY_uc010zui.2_Missense_Mutation_p.R120W|RALY_uc002xac.3_Intron NM_016732 NP_057951 Q9UKM9 RALY_HUMAN Homo sapiens RNA binding protein, autoantigenic (hnRNP-associated with lethal yellow homolog (mouse)) (RALY), transcript variant 1, mRNA. 120 catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex RNA binding|nucleotide binding kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 12 ATGATTACTACCGGGACGACTT 0.574000 32 23 0 0 0.004672 0 0 OR6C1 390321 broad.mit.edu 37 12 55714467 55714467 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:55714467C>T uc010spi.2 + 0 84 c.84C>T c.(82-84)ttC>ttT p.F28F NM_001005182 NP_001005182 Q96RD1 OR6C1_HUMAN Homo sapiens olfactory receptor, family 6, subfamily C, member 1 (OR6C1), mRNA. 28 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1) 25 TCTTTGTCTTCCTGCTCATCA 0.423000 34 21 0 0 0.002780 0 0 PCDHB12 56124 broad.mit.edu 37 5 140590315 140590315 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr5:140590315C>T uc003liz.3 + 0 2025 c.1836C>T c.(1834-1836)ccC>ccT p.P612P PCDHB12_uc011dak.2_Silent_p.P275P NM_018932 NP_061755 Q9Y5F1 PCDBC_HUMAN Homo sapiens protocadherin beta 12 (PCDHB12), mRNA. 612 Cadherin 6. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding p.P612P(4) NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCACGGAGCCCGGGCTATTCG 0.701000 44 47 0 0 0.014410 0 0 TSHZ2 128553 broad.mit.edu 37 20 51871597 51871598 + Missense_Mutation DNP GG AA AA TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr20:51871597_51871598GG>AA uc002xwo.3 + 1 2487_2488 c.1600_1601GG>AA c.(1600-1602)ggg>AAg p.G534K TSHZ2_uc021wex.1_Missense_Mutation_p.G531K NM_173485 NP_775756 Q9NRE2 TSH2_HUMAN Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA. 534 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) AGCCCAAAACGGGGCCCCCAGC 0.554000 38 31 0 0 0.004672 0 0 FPR1 2357 broad.mit.edu 37 19 52249604 52249604 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:52249604G>A uc021uyn.1 - 2 790 c.644C>T c.(643-645)tCc>tTc p.S215F FPR1_uc002pxq.3_Missense_Mutation_p.S215F|FPR1_uc021uyo.1_Missense_Mutation_p.S215F NM_001193306 NP_002020 P21462 FPR1_HUMAN Homo sapiens formyl peptide receptor 1 (FPR1), transcript variant 1, mRNA. 215 G-protein signaling, coupled to cAMP nucleotide second messenger|activation of MAPK activity|cellular component movement|chemotaxis|nitric oxide mediated signal transduction endosome|integral to membrane|plasma membrane N-formyl peptide receptor activity endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3) 20 all_neural(266;0.0189)|Medulloblastoma(540;0.146) GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018) Nedocromil(DB00716) AGCAACGATGGACATGGGTGC 0.527000 47 28 0 0 0.013726 0 0 TBC1D3P2 440452 broad.mit.edu 37 17 60342311 60342311 + RNA SNP G T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:60342311G>T uc010woz.2 - 13 c.1818C>A Homo sapiens TBC1 domain family, member 3 pseudogene 2 (TBC1D3P2), non-coding RNA. breast(2)|kidney(1)|lung(2) 5 AAAACGAGGAGGCGAAGCTTG 0.458000 88 7 5.4927e-09 5.77894e-09 0.004482 1 0 SNED1 25992 broad.mit.edu 37 2 242002212 242002212 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:242002212C>T uc002wah.1 + 16 2262 c.2262C>T c.(2260-2262)atC>atT p.I754I SNED1_uc002wai.1_5'Flank|SNED1_uc002waj.1_5'Flank|SNED1_uc002wak.3_5'Flank NM_001080437 NP_001073906 Q8TER0 SNED1_HUMAN Homo sapiens sushi, nidogen and EGF-like domains 1 (SNED1), mRNA. 754 EGF-like 11; calcium-binding (Potential). cell-matrix adhesion extracellular region calcium ion binding NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1) 24 all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109) TCTCAGAAATCGATGAGTGCC 0.547000 7 11 0 0 0.010729 0 0 SIK3 23387 broad.mit.edu 37 11 116744293 116744293 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:116744293G>A uc001ppy.3 - 12 1503 c.1467C>T c.(1465-1467)ggC>ggT p.G489G SIK3_uc001ppz.3_Silent_p.G388G|SIK3_uc001pqa.3_Silent_p.G441G NM_025164 NP_079440 Q9Y2K2 SIK3_HUMAN Homo sapiens SIK family kinase 3 (SIK3), mRNA. 489 LGR -> MGL (in Ref. 4; AAH63887). cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 57 ATGCCCTCCGGCCAAGGGGGC 0.617000 321 222 0 0 0.014410 0 0 XDH 7498 broad.mit.edu 37 2 31572901 31572901 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:31572901C>T uc002rnv.1 - 24 2899 c.2820G>A c.(2818-2820)gaG>gaA p.E940E NM_000379 NP_000370 P47989 XDH_HUMAN Homo sapiens xanthine dehydrogenase (XDH), mRNA. 940 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) AGCTTACCTCCTCTGCAGGCA 0.577000 86 59 0 0 0.014410 0 0 HTT 3064 broad.mit.edu 37 4 3189493 3189493 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr4:3189493C>T uc021xkv.1 + 38 5250 c.5105C>T c.(5104-5106)tCt>tTt p.S1702F NM_002111 NP_002102 P42858 HD_HUMAN Homo sapiens huntingtin (HTT), mRNA. 1702 Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 87 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) CTCTCCTTCTCTCCGTATTTA 0.398000 56 55 0 0 0.014410 0 0 RP1 6101 broad.mit.edu 37 8 55542301 55542301 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr8:55542301G>A uc003xsd.1 + 3 6007 c.5859G>A c.(5857-5859)atG>atA p.M1953I RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA. 1953 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) ATTTATGGATGAAAATACACC 0.333000 13 13 0 0 0.001855 0 0 COL5A1 1289 broad.mit.edu 37 9 137702118 137702118 + Silent SNP G T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr9:137702118G>T uc004cfe.3 + 43 3874 c.3492G>T c.(3490-3492)ccG>ccT p.P1164P NM_000093 NP_000084 P20908 CO5A1_HUMAN Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA. 1164 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) TCGGGGAGCCGGGGCAGAAAG 0.592000 55 47 5.57489e-27 5.99467e-27 0.014410 1 0 FBN2 2201 broad.mit.edu 37 5 127863635 127863635 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr5:127863635C>T uc003kuu.3 - 3 901 c.462G>A c.(460-462)atG>atA p.M154I FBN2_uc003kuv.2_Missense_Mutation_p.M121I|FBN2_uc003kuw.4_Missense_Mutation_p.M154I NM_001999 NP_001990 P35556 FBN2_HUMAN Homo sapiens fibrillin 2 (FBN2), mRNA. 154 EGF-like 2. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) TCCCACCATTCATGCATCTCA 0.368000 8 22 0 0 0.004656 0 0 UHMK1 127933 broad.mit.edu 37 1 162487890 162487890 + Splice_Site SNP A G G TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:162487890A>G uc001gcc.2 + 7 1221 c.1025_splice c.e7-2 p.D342_splice UHMK1_uc001gcd.3_Splice_Site_p.D268_splice|UHMK1_uc009wuu.2_Intron NM_175866 NP_787062 Q8TAS1 UHMK1_HUMAN Homo sapiens U2AF homology motif (UHM) kinase 1 (UHMK1), transcript variant 1, mRNA. 342 RRM. cell cycle arrest|neuron projection development|peptidyl-serine phosphorylation|positive regulation of translational initiation|protein autophosphorylation|regulation of protein export from nucleus axon|dendrite cytoplasm|neuronal RNA granule|nucleus RNA binding|protein binding|protein serine/threonine kinase activity|ribonucleoprotein binding endometrium(1)|large_intestine(2)|lung(6)|prostate(2) 11 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.126) TTTAATAATCAGATGTTGTAG 0.308000 17 14 0 0 0.003163 0 0 IL17RE 132014 broad.mit.edu 37 3 9945733 9945733 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:9945733C>T uc003btu.3 + 3 290 c.286C>T c.(286-288)Cct>Tct p.P96S CIDEC_uc003bto.3_Intron|IL17RE_uc003btv.3_Missense_Mutation_p.P56S|IL17RE_uc011atn.1_Intron|IL17RE_uc003bty.3_Non-coding_Transcript|IL17RE_uc003btx.3_Intron|IL17RE_uc010hcq.3_Missense_Mutation_p.P56S|IL17RE_uc003btw.3_Missense_Mutation_p.P56S NM_153483 NP_705616 Q8NFR9 I17RE_HUMAN Homo sapiens interleukin 17 receptor E (IL17RE), transcript variant 5, mRNA. 56 cytoplasm|extracellular region|integral to membrane receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(11)|skin(1) 21 OV - Ovarian serous cystadenocarcinoma(96;5.34e-64) TGCCTATATCCCTTGCCGCAC 0.547000 146 94 0 0 0.014410 0 0 MON1B 22879 broad.mit.edu 37 16 77232202 77232202 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr16:77232202C>T uc002fez.3 + 5 1971 c.1641C>T c.(1639-1641)ctC>ctT p.L547L MON1B_uc010vnf.2_Silent_p.L438L|MON1B_uc010vng.2_Silent_p.L401L|MON1B_uc002ffa.3_Silent_p.L427L|SYCE1L_uc010vnh.1_5'Flank NM_014940 NP_055755 Q7L1V2 MON1B_HUMAN Homo sapiens MON1 homolog B (yeast) (MON1B), mRNA. 547 protein binding breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 17 TCACTGGACTCTGATAGTTGG 0.542000 49 38 0 0 0.003755 0 0 ANKS1B 56899 broad.mit.edu 37 12 99548138 99548138 + Silent SNP A G G TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:99548138A>G uc001tge.2 - 14 2872 c.2455T>C c.(2455-2457)Ttg>Ctg p.L819L ANKS1B_uc001tgf.2_Silent_p.L395L|ANKS1B_uc001tgk.3_Silent_p.L116L|ANKS1B_uc001tgd.2_Silent_p.L45L|ANKS1B_uc009ztr.3_Silent_p.L45L|ANKS1B_uc001tgj.3_Silent_p.L45L|ANKS1B_uc001tgi.3_Silent_p.L45L|ANKS1B_uc009zts.2_Silent_p.L45L|ANKS1B_uc001tgg.4_5'UTR|ANKS1B_uc010svg.2_Silent_p.L14L NM_152788 NP_690001 Q7Z6G8 ANS1B_HUMAN Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1B (ANKS1B), transcript variant 1, mRNA. 819 SAM 1. Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1) 70 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) ATGCTTTCCAACCATTGTCCC 0.512000 34 25 0 0 0.003330 0 0 EIF4G1 1981 broad.mit.edu 37 3 184040702 184040702 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:184040702C>T uc003fnp.3 + 12 2160 c.1889C>T c.(1888-1890)cCa>cTa p.P630L EIF4G1_uc003fno.2_Missense_Mutation_p.P571L|EIF4G1_uc010hxw.2_Missense_Mutation_p.P466L|EIF4G1_uc010hxx.3_Missense_Mutation_p.P637L|EIF4G1_uc003fnt.3_Missense_Mutation_p.P341L|EIF4G1_uc010hxy.3_Missense_Mutation_p.P637L|EIF4G1_uc003fnq.3_Missense_Mutation_p.P543L|EIF4G1_uc003fnr.3_Missense_Mutation_p.P466L|EIF4G1_uc003fns.3_Missense_Mutation_p.P590L|EIF4G1_uc003fnv.4_Missense_Mutation_p.P630L|EIF4G1_uc003fnw.3_Missense_Mutation_p.P637L|EIF4G1_uc003fnx.3_Missense_Mutation_p.P434L|SNORD66_uc003fnz.3_5'Flank NM_198241 NP_937885 Q04637 IF4G1_HUMAN Homo sapiens eukaryotic translation initiation factor 4 gamma, 1 (EIF4G1), transcript variant 2, mRNA. 630 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 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) ATGCAGAAGCCAGAGGGATTG 0.502000 108 83 0 0 0.014410 0 0 FAM22G 441457 broad.mit.edu 37 9 99700235 99700235 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr9:99700235G>A uc022bkp.1 + 5 1413 c.1392G>A c.(1390-1392)ttG>ttA p.L464L FAM22G_uc004awq.2_Silent_p.L464L NM_001170741 NP_001164212 Q5VZR2 FA22G_HUMAN Homo sapiens family with sequence similarity 22, member G (FAM22G), transcript variant 2, mRNA. 464 p.F463L(1) central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(5)|skin(2)|stomach(1) 17 Acute lymphoblastic leukemia(62;0.0527) TGGATTTCTTGGCCCTAAGCC 0.582000 83 52 0 0 0.014410 0 0 OR51G1 79324 broad.mit.edu 37 11 4944768 4944768 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:4944768C>T uc010qyr.2 - 0 802 c.802G>A c.(802-804)Gaa>Aaa p.E268K NM_001005237 NP_001005237 Q8NGK1 O51G1_HUMAN Homo sapiens olfactory receptor, family 51, subfamily G, member 1 (OR51G1), mRNA. 268 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1) 25 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) GGCAGATGTTCACCAAAGCGA 0.502000 54 42 0 0 0.008740 0 0 MUC16 94025 broad.mit.edu 37 19 9064001 9064001 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:9064001G>A uc002mkp.3 - 2 23649 c.23445C>T c.(23443-23445)ttC>ttT p.F7815F NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 7817 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TAGTCTCAAGGAAGGCAGGAG 0.527000 58 50 0 0 0.014410 0 0 EXOC3L2 90332 broad.mit.edu 37 19 45719416 45719417 + Missense_Mutation DNP GG AA AA TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:45719416_45719417GG>AA uc002pay.1 - 8 896_897 c.855_856CC>TT c.(853-858)ccccat>ccTTat p.H286Y NM_138568 NP_612635 Q2M3D2 EX3L2_HUMAN Homo sapiens exocyst complex component 3-like 2 (EXOC3L2), mRNA. 286 endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 12 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00883) TCAGCCAAATGGGGCACCACGG 0.644000 27 19 0 0 0.004672 0 0 KIR3DL2 3812 broad.mit.edu 37 19 55363668 55363668 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:55363668C>T uc002qho.4 + 2 319 c.286C>T c.(286-288)Cgg>Tgg p.R96W KIR3DL2_uc002qhl.4_Intron|KIR3DL2_uc002qhn.1_Intron|KIR3DL2_uc010esh.3_Missense_Mutation_p.R96W NM_006737 NP_006728 P43630 KI3L2_HUMAN Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2 (KIR3DL2), transcript variant 1, mRNA. 96 Ig-like C2-type 1. cellular defense response|regulation of immune response integral to plasma membrane receptor activity p.R96W(2)|p.R96Q(1) breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 23 GBM - Glioblastoma multiforme(193;0.0192) CTACAGATGTCGGGGTTCACG 0.582000 57 34 0 0 0.014410 0 0 NEDD9 4739 broad.mit.edu 37 6 11213690 11213690 + Missense_Mutation SNP G T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:11213690G>T uc003mzv.2 - 1 450 c.283C>A c.(283-285)Cca>Aca p.P95T NEDD9_uc010joz.2_Missense_Mutation_p.P95T|NEDD9_uc003mzw.3_5'UTR|NEDD9_uc003mzx.3_Missense_Mutation_p.P95T NM_006403 NP_006394 Q14511 CASL_HUMAN Homo sapiens neural precursor cell expressed, developmentally down-regulated 9 (NEDD9), transcript variant 1, mRNA. 95 actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth Golgi apparatus|cell cortex|focal adhesion|lamellipodium|nucleus protein binding endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 Breast(50;0.0768)|Ovarian(93;0.152) all_hematologic(90;0.135) Epithelial(50;0.0647)|all cancers(50;0.179) TGTGGGTTTGGCACTTGATAG 0.562000 103 68 1.2582e-26 1.3517e-26 0.014410 1 0 BV13S6J2.1 0 broad.mit.edu 37 7 142180696 142180696 + Nonsense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr7:142180696G>A uc011krz.2 - 1 212 c.163C>T c.(163-165)Cga>Tga p.R55* TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Nonsense_Mutation_p.R55*|BV13S6J2.1_uc022anl.1_5'Flank SubName: Full=V_segment translation product; Flags: Fragment; GGGTCTTGTCGATACCAGGAC 0.507000 245 56 0 0 0.014410 0 0 PNLIPRP1 5407 broad.mit.edu 37 10 118368581 118368581 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr10:118368581G>A uc001lco.1 + 12 1375 c.1357G>A c.(1357-1359)Gaa>Aaa p.E453K PNLIPRP1_uc001lcp.2_Missense_Mutation_p.E453K NM_006229 NP_006220 P54315 LIPR1_HUMAN Homo sapiens pancreatic lipase-related protein 1 (PNLIPRP1), mRNA. 453 PLAT. lipid metabolic process calcium ion binding|triglyceride lipase activity breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 38 all cancers(201;0.0161) CTTCTGTAGCGAAGACACAGT 0.507000 42 24 0 0 0.004656 0 0 SLC44A5 204962 broad.mit.edu 37 1 75707698 75707698 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:75707698G>A uc010oqz.1 - 7 703 c.637C>T c.(637-639)Ccc>Tcc p.P213S SLC44A5_uc001dgt.2_Missense_Mutation_p.P174S|SLC44A5_uc001dgs.2_Missense_Mutation_p.P132S|SLC44A5_uc001dgr.2_Missense_Mutation_p.P132S|SLC44A5_uc001dgu.3_Missense_Mutation_p.P174S|SLC44A5_uc010ora.2_Missense_Mutation_p.P168S|SLC44A5_uc010orb.2_Missense_Mutation_p.P44S NM_001130058 NP_001123530 Q8NCS7 CTL5_HUMAN Homo sapiens solute carrier family 44, member 5 (SLC44A5), transcript variant 2, mRNA. 174 integral to membrane|plasma membrane choline transmembrane transporter activity kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 GGTTTGCTGGGAAAAATCGCT 0.363000 49 24 0 0 0.007291 0 0 COBL 23242 broad.mit.edu 37 7 51096201 51096202 + Missense_Mutation DNP GG AA AA TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr7:51096201_51096202GG>AA uc003tps.3 - 10 2947_2948 c.2762_2763CC>TT c.(2761-2763)tcc>tTT p.S921F COBL_uc003tpr.4_Missense_Mutation_p.S864F|COBL_uc011kcl.2_Missense_Mutation_p.S864F|COBL_uc003tpp.4_Missense_Mutation_p.S650F|COBL_uc003tpq.4_Missense_Mutation_p.S805F|COBL_uc003tpo.4_Missense_Mutation_p.S406F NM_015198 NP_056013 O75128 COBL_HUMAN Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA. 864 NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Glioma(55;0.08) CATACTGGCTGGACGTTCTTCT 0.574000 70 44 0 0 0.004672 0 0 BCL11B 64919 broad.mit.edu 37 14 99641844 99641844 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr14:99641844G>A uc001yga.3 - 3 1596 c.1329C>T c.(1327-1329)atC>atT p.I443I BCL11B_uc001ygb.3_Silent_p.I372I NM_138576 NP_612808 Q9C0K0 BC11B_HUMAN Homo sapiens B-cell CLL/lymphoma 11B (zinc finger protein) (BCL11B), transcript variant 1, mRNA. 443 nucleus zinc ion binding NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2) 34 Melanoma(154;0.0866)|all_epithelial(191;0.241) COAD - Colon adenocarcinoma(157;0.103) GCCGGTGCACGATGAGATTGC 0.662000 T TLX3 T-ALL 29 20 0 0 0.007413 0 0 MTUS2 23281 broad.mit.edu 37 13 29600557 29600557 + Silent SNP T A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr13:29600557T>A uc001usl.4 + 0 1810 c.1752T>A c.(1750-1752)ccT>ccA p.P584P NM_001033602 NP_001028774 Q5JR59 MTUS2_HUMAN Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA. 574 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 TTCCACCCCCTACTGATAGTG 0.537000 54 33 0 0 0.012213 0 0 DPP10 57628 broad.mit.edu 37 2 116535372 116535372 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:116535372G>A uc002tle.3 + 14 1356 c.1335G>A c.(1333-1335)ctG>ctA p.L445L DPP10_uc002tla.2_Silent_p.L441L|DPP10_uc002tlb.2_Silent_p.L391L|DPP10_uc002tlc.2_Silent_p.L437L|DPP10_uc002tlf.2_Silent_p.L434L NM_001178034 NP_001171505 Q8N608 DPP10_HUMAN Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA. 441 proteolysis integral to membrane|membrane fraction serine-type peptidase activity breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1) 101 GTTACTTTCTGAGCACTGAAT 0.408000 32 25 0 0 0.005443 0 0 ZHX1 11244 broad.mit.edu 37 8 124266466 124266466 + Missense_Mutation SNP T C C TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr8:124266466T>C uc003yqe.3 - 2 2331 c.1721A>G c.(1720-1722)gAg>gGg p.E574G C8orf76_uc003yqd.3_Intron|ZHX1_uc003yqf.3_Missense_Mutation_p.E574G|ZHX1_uc003yqg.3_Intron|ZHX1_uc010mdi.3_Missense_Mutation_p.E574G|ZHX1_uc022bak.1_Missense_Mutation_p.E574G NM_007222 NP_009153 Q9UKY1 ZHX1_HUMAN Homo sapiens zinc fingers and homeoboxes 1 (ZHX1), transcript variant 2, mRNA. 574 negative regulation of transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 Lung NSC(37;1.25e-09)|Ovarian(258;0.0154) STAD - Stomach adenocarcinoma(47;0.00527) TGCAGTTTTCTCTTTAAACTT 0.433000 39 32 0 0 0.012213 0 0 BMP15 9210 broad.mit.edu 37 X 50659043 50659043 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chrX:50659043C>T uc011mnw.2 + 1 664 c.615C>T c.(613-615)ctC>ctT p.L205L NM_005448 NP_005439 O95972 BMP15_HUMAN Homo sapiens bone morphogenetic protein 15 (BMP15), mRNA. 205 female gamete generation|granulosa cell development|ovarian follicle development extracellular space cytokine activity|growth factor activity p.R204*(2)|p.L205H(1) NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1) 26 Ovarian(276;0.236) TCCTACGACTCCGTTTTATGT 0.433000 3 41 0 0 0.007835 0 0 SLFN12L 100506736 broad.mit.edu 37 17 33806595 33806595 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:33806595C>T uc002hjn.3 - 2 1435 c.721G>A c.(721-723)Gaa>Aaa p.E241K SLFN12L_uc021tuy.1_Missense_Mutation_p.E212K NM_001195790 NP_001182719 Q6IEE8 SN12L_HUMAN Homo sapiens schlafen family member 12-like (SLFN12L), mRNA. 244 integral to membrane ATP binding breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1) 16 GTCAATTTTTCTTTATAACCA 0.358000 13 6 0 0 0.001168 0 0 ASPA 443 broad.mit.edu 37 17 3397703 3397703 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:3397703C>T uc010ckg.3 + 5 785 c.694C>T c.(694-696)Ccc>Tcc p.P232S SPATA22_uc010vrg.2_Intron|ASPA_uc002fvq.3_Missense_Mutation_p.P232S NM_001128085 NP_001121557 P45381 ACY2_HUMAN Homo sapiens aspartoacylase (ASPA), transcript variant 2, mRNA. 232 aspartate catabolic process cytoplasm|nucleus aminoacylase activity|aspartoacylase activity|hydrolase activity, acting on ester bonds|metal ion binding breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1) 17 L-Aspartic Acid(DB00128) AGTTGATTACCCCCGGGATGA 0.338000 114 85 0 0 0.014410 0 0 DBX2 440097 broad.mit.edu 37 12 45410265 45410265 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:45410265G>A uc001rok.1 - 3 996 c.824C>T c.(823-825)cCa>cTa p.P275L NM_001004329 NP_001004329 Q6ZNG2 DBX2_HUMAN Homo sapiens developing brain homeobox 2 (DBX2), mRNA. 275 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 22 Lung SC(27;0.192) Lung NSC(34;0.142) GBM - Glioblastoma multiforme(48;0.0515) TGAAGGACATGGAGAAGGGAA 0.493000 56 41 0 0 0.009718 0 0 HSPA6 3310 broad.mit.edu 37 1 161496150 161496150 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:161496150G>A uc001gaq.3 + 0 2115 c.1702G>A c.(1702-1704)Gac>Aac p.D568N TRNA_Gly_uc021pdc.1_5'Flank NM_002155 NP_002146 P17066 HSP76_HUMAN Homo sapiens heat shock 70kDa protein 6 (HSP70B') (HSPA6), mRNA. 568 response to unfolded protein ATP binding endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2) 21 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) TCCCGAAGAGGACAGGCGCAA 0.537000 8 7 0 0 0.001984 0 0 IL4R 3566 broad.mit.edu 37 16 27374340 27374340 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr16:27374340G>A uc002don.3 + 10 1909 c.1667G>A c.(1666-1668)cGa>cAa p.R556Q IL4R_uc002dop.4_Missense_Mutation_p.R541Q|IL4R_uc010bxy.3_Missense_Mutation_p.R556Q|IL4R_uc002doo.3_Missense_Mutation_p.R396Q NM_000418 NP_000409 P24394 IL4RA_HUMAN Homo sapiens interleukin 4 receptor (IL4R), transcript variant 1, mRNA. 556 Required for IRS1 activation and IL4- induced cell growth. immune response|production of molecular mediator involved in inflammatory response integral to plasma membrane identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 33 ATCCTCCGCCGAAATGTCCTC 0.637000 17 21 0 0 0.010504 0 0 THEMIS 387357 broad.mit.edu 37 6 128134831 128134831 + Missense_Mutation SNP A C C TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:128134831A>C uc011ebt.2 - 3 1104 c.955T>G c.(955-957)Tta>Gta p.L319V THEMIS_uc010kfa.3_Missense_Mutation_p.L222V|THEMIS_uc021zfa.1_Missense_Mutation_p.L319V|THEMIS_uc010kfb.3_Missense_Mutation_p.L284V NM_001164685 NP_001158157 Q8N1K5 THMS1_HUMAN Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA. 319 CABIT 2. T cell receptor signaling pathway|negative T cell selection|positive T cell selection cytoplasm|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3) 60 TCTGAAGCTAAGATTCTTGAT 0.453000 44 40 0 0 0.005524 0 0 VCAN 1462 broad.mit.edu 37 5 82835116 82835116 + Nonsense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr5:82835116G>A uc003kii.3 + 7 6650 c.6294G>A c.(6292-6294)tgG>tgA p.W2098* VCAN_uc003kij.3_Nonsense_Mutation_p.W1111*|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Nonsense_Mutation_p.W762* NM_004385 NP_004376 P13611 CSPG2_HUMAN Homo sapiens versican (VCAN), transcript variant 1, mRNA. 2098 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) CCAAATTATGGTCTAGGCAAG 0.403000 6 28 0 0 0.008361 0 0 SF3B14 51639 broad.mit.edu 37 2 24290698 24290698 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:24290698C>T uc002rev.3 - 3 527 c.312G>A c.(310-312)aaG>aaA p.K104K SF3B14_uc010eyb.3_Non-coding_Transcript NM_016047 NP_057131 Q9Y3B4 PM14_HUMAN Homo sapiens splicing factor 3B, 14 kDa subunit (SF3B14), mRNA. 104 nuclear mRNA splicing, via spliceosome U12-type spliceosomal complex|nucleoplasm RNA binding|nucleotide binding|protein binding NS(1)|kidney(1)|large_intestine(1)|lung(1) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCTCCTTCTTCTTTGTGTCCA 0.353000 60 48 0 0 0.014410 0 0 HLA-F 3134 broad.mit.edu 37 6 29691462 29691462 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:29691462C>T uc003nno.4 + 1 216 c.92C>T c.(91-93)aCc>aTc p.T31I HLA-F_uc010jrl.3_Missense_Mutation_p.T31I|HLA-F_uc003nnm.4_Missense_Mutation_p.T31I|HLA-F_uc011dlx.1_Missense_Mutation_p.T31I|HLA-F_uc011dly.1_Non-coding_Transcript NM_001098479 NP_001091949 P30511 HLAF_HUMAN Homo sapiens major histocompatibility complex, class I, F (HLA-F), transcript variant 1, mRNA. 31 Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway MHC class I protein complex|integral to membrane MHC class I receptor activity cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 8 TATTTCAGCACCGCTGTGTCG 0.701000 3 22 0 0 0.007291 0 0 PARP15 165631 broad.mit.edu 37 3 122351038 122351038 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:122351038G>A uc003efm.2 + 9 1610 c.1544G>A c.(1543-1545)cGa>cAa p.R515Q PARP15_uc003efn.2_Missense_Mutation_p.R320Q|PARP15_uc003efo.1_Missense_Mutation_p.R262Q|PARP15_uc003efp.1_Missense_Mutation_p.R281Q|PARP15_uc011bjt.1_Missense_Mutation_p.R212Q NM_001113523 NP_001106995 Q460N3 PAR15_HUMAN Homo sapiens poly (ADP-ribose) polymerase family, member 15 (PARP15), transcript variant 1, mRNA. 493 PARP catalytic. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NAD+ ADP-ribosyltransferase activity p.R515Q(1)|p.R281Q(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 24 GBM - Glioblastoma multiforme(114;0.0531) AAGTTCACCCGAACTTGTTCT 0.358000 26 21 0 0 0.002780 0 0 EGFLAM 133584 broad.mit.edu 37 5 38451535 38451535 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr5:38451535C>T uc003jlc.2 + 19 3032 c.2686C>T c.(2686-2688)Ctt>Ttt p.L896F EGFLAM_uc003jlb.2_Missense_Mutation_p.L888F|EGFLAM_uc003jle.2_Missense_Mutation_p.L654F|EGFLAM_uc003jlf.2_Missense_Mutation_p.L254F|EGFLAM_uc003jlg.2_Missense_Mutation_p.L31F NM_001205301 NP_001192230 Q63HQ2 EGFLA_HUMAN Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA. 896 Laminin G-like 3. cell junction|proteinaceous extracellular matrix|synapse NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) TTCCTTGGGCCTTCGGGATGG 0.517000 10 49 0 0 0.014410 0 0 GLRA3 8001 broad.mit.edu 37 4 175603979 175603979 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr4:175603979C>T uc003ity.1 - 5 1189 c.686G>A c.(685-687)cGa>cAa p.R229Q GLRA3_uc003itz.1_Missense_Mutation_p.R229Q NM_006529 NP_006520 O75311 GLRA3_HUMAN Homo sapiens glycine receptor, alpha 3 (GLRA3), transcript variant 1, mRNA. 229 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity p.R229P(2) endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 35 Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107) all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421) Glycine(DB00145) AGTGCAGTATCGTAAATCTTT 0.373000 19 24 0 0 0.004656 0 0 DGCR14 8220 broad.mit.edu 37 22 19121953 19121953 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr22:19121953G>A uc002zou.3 - 9 1224 c.1187C>T c.(1186-1188)cCa>cTa p.P396L NM_022719 NP_073210 Q96DF8 DGC14_HUMAN Homo sapiens DiGeorge syndrome critical region gene 14 (DGCR14), mRNA. 396 nervous system development catalytic step 2 spliceosome breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1) 16 Colorectal(54;0.0993) CTGTAGGGCTGGCGACATGGC 0.672000 41 22 0 0 0.012319 0 0 DNAH12 201625 broad.mit.edu 37 3 57488120 57488120 + Nonsense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:57488120C>T uc003dit.2 - 9 1354 c.1173G>A c.(1171-1173)tgG>tgA p.W391* DNAH12_uc003diu.2_Nonsense_Mutation_p.W391* NM_178504 NP_848599 Q6ZR08 DYH12_HUMAN Homo sapiens dynein, axonemal, heavy chain 12 (DNAH12), transcript variant 1, mRNA. 391 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1) 25 TATCAACAGCCCAGTGTAACA 0.393000 41 21 0 0 0.010504 0 0 ZNF498 221785 broad.mit.edu 37 7 99217233 99217233 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr7:99217233C>T uc003url.1 + 3 331 c.4C>T c.(4-6)Ctt>Ttt p.L2F ZNF498_uc003urm.1_5'UTR|ZNF498_uc010lge.1_5'UTR|ZNF498_uc003urn.3_Non-coding_Transcript|ZNF498_uc010lgf.1_Missense_Mutation_p.L2F|ZNF498_uc003uro.1_5'Flank NM_145115 NP_660090 Q6NSZ9 ZN498_HUMAN Homo sapiens zinc finger protein 498 (ZNF498), mRNA. 2 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(1) 24 all_epithelial(64;1.95e-08)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166) TCTGAAGATGCTTAAAGAGCA 0.512000 79 48 0 0 0.013114 0 0 PCLO 27445 broad.mit.edu 37 7 82785026 82785026 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr7:82785026G>A uc003uhx.2 - 1 1220 c.931C>T c.(931-933)Cct>Tct p.P311S PCLO_uc003uhv.2_Missense_Mutation_p.P311S NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 301 Gln-rich.|Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GGTTTTCCAGGAGTTGGTTGC 0.532000 22 28 0 0 0.007291 0 0 OR13D1 286365 broad.mit.edu 37 9 107457324 107457324 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr9:107457324C>T uc011lvs.2 + 0 622 c.622C>T c.(622-624)Cat>Tat p.H208Y NM_001004484 NP_001004484 Q8NGV5 O13D1_HUMAN Homo sapiens olfactory receptor, family 13, subfamily D, member 1 (OR13D1), mRNA. 208 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2) 19 TGTCATTGATCATATTACCTG 0.398000 47 31 0 0 0.003271 0 0 HDAC3 8841 broad.mit.edu 37 5 141004874 141004874 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr5:141004874G>A uc003llf.2 - 13 1184 c.1118C>T c.(1117-1119)cCt>cTt p.P373L HDAC3_uc003lle.1_Missense_Mutation_p.P316L NM_003883 NP_003874 O15379 HDAC3_HUMAN Homo sapiens histone deacetylase 3 (HDAC3), mRNA. 373 anti-apoptosis|cellular lipid metabolic process|negative regulation of JNK cascade|negative regulation of cell cycle|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|spindle assembly|transcription, DNA-dependent cytoplasm|histone deacetylase complex|spindle microtubule|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)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|transcription corepressor activity|transcription factor binding endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 13 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Vorinostat(DB02546) CTGGACACTAGGTGCATGGTT 0.502000 20 91 0 0 0.014410 0 0 CPNE9 151835 broad.mit.edu 37 3 9771260 9771260 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:9771260G>A uc021wst.1 + 20 1717 c.1546G>A c.(1546-1548)Gat>Aat p.D516N CPNE9_uc003bsd.3_Missense_Mutation_p.D515N|BRPF1_uc003bse.3_5'Flank|BRPF1_uc003bsf.3_5'Flank|BRPF1_uc003bsg.3_5'Flank|BRPF1_uc011ati.2_5'Flank NM_153635 NP_705899 Q8IYJ1 CPNE9_HUMAN Homo sapiens copine family member IX (CPNE9), mRNA. 516 breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 16 Medulloblastoma(99;0.227) ACTGGCCAAGGATGTGCTGGC 0.622000 35 34 0 0 0.003755 0 0 DTX1 1840 broad.mit.edu 37 12 113515335 113515335 + Missense_Mutation SNP T G G TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:113515335T>G uc001tuk.1 + 1 702 c.366T>G c.(364-366)gaT>gaG p.D122E NM_004416 NP_004407 Q86Y01 DTX1_HUMAN Homo sapiens deltex homolog 1 (Drosophila) (DTX1), mRNA. 122 WWE 2. Notch signaling pathway|negative regulation of neuron differentiation|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter cytoplasm|nucleus Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 32 CGGCCTACGATATGGACATCT 0.622000 57 4 0 0 0.003080 0 0 DPYSL5 56896 broad.mit.edu 37 2 27157581 27157581 + Missense_Mutation SNP A C C TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:27157581A>C uc002rhu.4 + 7 1084 c.926A>C c.(925-927)tAc>tCc p.Y309S DPYSL5_uc002rhv.4_Missense_Mutation_p.Y309S|DPYSL5_uc021vev.1_Missense_Mutation_p.Y309S NM_020134 NP_064519 Q9BPU6 DPYL5_HUMAN Homo sapiens dihydropyrimidinase-like 5 (DPYSL5), transcript variant 1, mRNA. 309 axon guidance|pyrimidine base catabolic process|signal transduction cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ACCTCAACCTACCTCATGAGC 0.557000 155 97 0 0 0.014410 0 0 LRIG1 26018 broad.mit.edu 37 3 66433778 66433779 + Missense_Mutation DNP CC TT TT TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:66433778_66433779CC>TT uc003dmx.3 - 14 2132_2133 c.2118_2119GG>AA c.(2116-2121)gtggga>gtAAga p.G707R SLC25A26_uc011bft.2_Intron|LRIG1_uc011bfu.2_Missense_Mutation_p.G327R|LRIG1_uc003dmw.3_Missense_Mutation_p.G373R|LRIG1_uc010hnz.3_Missense_Mutation_p.G423R|LRIG1_uc010hoa.3_Missense_Mutation_p.G684R NM_015541 NP_056356 Q96JA1 LRIG1_HUMAN Homo sapiens leucine-rich repeats and immunoglobulin-like domains 1 (LRIG1), mRNA. 707 Ig-like C2-type 3. integral to membrane NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1) 42 Lung NSC(201;0.0101) BRCA - Breast invasive adenocarcinoma(55;0.00047) ACTGTTTCTCCCACAGATACCA 0.604000 52 35 0 0 0.004672 0 0 CLIC5 53405 broad.mit.edu 37 6 45882144 45882144 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:45882144G>A uc003oxv.3 - 4 992 c.886C>T c.(886-888)Ctt>Ttt p.L296F CLIC5_uc003oxu.3_Missense_Mutation_p.L137F|CLIC5_uc003oxw.3_Non-coding_Transcript|CLIC5_uc003oxx.3_Missense_Mutation_p.L137F NM_001114086 NP_001107558 Q9NZA1 CLIC5_HUMAN Homo sapiens chloride intracellular channel 5 (CLIC5), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 296 GST C-terminal. female pregnancy Golgi apparatus|actin cytoskeleton|cell cortex|chloride channel complex|insoluble fraction|microtubule organizing center protein binding|voltage-gated chloride channel activity endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 13 CCTCTTTCAAGAGCTGGCATG 0.473000 30 35 0 0 0.003755 0 0 EPHB1 2047 broad.mit.edu 37 3 134670370 134670370 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:134670370G>A uc003eqt.3 + 2 656 c.281G>A c.(280-282)aGa>aAa p.R94K EPHB1_uc010htz.2_Non-coding_Transcript|EPHB1_uc011bly.2_Missense_Mutation_p.R94K NM_004441 NP_004432 P54762 EPHB1_HUMAN Homo sapiens EPH receptor B1 (EPHB1), mRNA. 94 integral to plasma membrane ATP binding|ephrin receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 130 TTCACTGTGAGAGACTGCAGC 0.532000 9 11 0 0 0.010729 0 0 OR4X1 390113 broad.mit.edu 37 11 48286276 48286276 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:48286276G>A uc010rht.2 + 0 864 c.864G>A c.(862-864)agG>agA p.R288R NM_001004726 NP_001004726 Q8NH49 OR4X1_HUMAN Homo sapiens olfactory receptor, family 4, subfamily X, member 1 (OR4X1), mRNA. 288 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1) 28 ACTCCTTCAGGAATGCTGAAG 0.408000 41 26 0 0 0.003954 0 0 NWD1 284434 broad.mit.edu 37 19 16908590 16908590 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:16908590C>T uc002neu.4 + 15 3774 c.3352C>T c.(3352-3354)Cgc>Tgc p.R1118C NWD1_uc002net.4_Missense_Mutation_p.R983C|NWD1_uc002nev.4_Missense_Mutation_p.R912C|NWD1_uc021uqg.1_Missense_Mutation_p.R983C NM_001007525 NP_001007526 Q149M9 NWD1_HUMAN Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA. 1118 ATP binding p.R983C(1) NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 GAGGGGCTTTCGCCGATTCAT 0.537000 120 104 0 0 0.014410 0 0 ARHGEF12 23365 broad.mit.edu 37 11 120310856 120310856 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:120310856G>A uc001pxl.2 + 12 1353 c.1018G>A c.(1018-1020)Gga>Aga p.G340R ARHGEF12_uc009zat.3_Missense_Mutation_p.G321R|ARHGEF12_uc010rzn.1_Missense_Mutation_p.G237R|ARHGEF12_uc009zau.1_Missense_Mutation_p.G237R|ARHGEF12_uc021qrm.1_Missense_Mutation_p.G321R NM_015313 NP_056128 Q9NZN5 ARHGC_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 12 (ARHGEF12), transcript variant 1, mRNA. 340 G-protein coupled receptor protein signaling pathway|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2) 61 Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231) ATCACTTGTCGGAAGTCCCTC 0.373000 T MLL AML 59 39 0 0 0.009718 0 0 FAT2 2196 broad.mit.edu 37 5 150922489 150922489 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr5:150922489C>T uc003lue.4 - 8 8212 c.8199G>A c.(8197-8199)gaG>gaA p.E2733E NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA. 2733 Cadherin 24. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding p.P2732A(1) NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCTTGTTGCTCTCAGGTGTAG 0.507000 8 42 0 0 0.014410 0 0 RPTN 126638 broad.mit.edu 37 1 152128157 152128157 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:152128157G>A uc001ezs.1 - 2 1483 c.1418C>T c.(1417-1419)tCc>tTc p.S473F NM_001122965 NP_001116437 Q6XPR3 RPTN_HUMAN Homo sapiens repetin (RPTN), mRNA. 473 Gln-rich. proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 ACTGTAGTGGGAACTCTGGCC 0.512000 428 298 0 0 0.014410 0 0 TTC40 54777 broad.mit.edu 37 10 134624457 134624457 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr10:134624457C>T uc021qbc.1 - 55 7681 c.7580G>A c.(7579-7581)aGg>aAg p.R2527K NM_001200049 NP_001186978 Q8IYW2 CJ092_HUMAN Homo sapiens tetratricopeptide repeat domain 40 (TTC40), mRNA. 688 breast(1)|endometrium(5)|lung(19)|urinary_tract(3) 28 CAGGCACCTCCTGTGCTCCAC 0.672000 6 4 0 0 0.009096 0 0 FAM150A 389658 broad.mit.edu 37 8 53454993 53454993 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr8:53454993C>T uc003xrd.3 - 1 408 c.203G>A c.(202-204)aGa>aAa p.R68K FAM150A_uc011ldt.2_Missense_Mutation_p.R68K NM_207413 NP_997296 Q6UXT8 F150A_HUMAN Homo sapiens family with sequence similarity 150, member A (FAM150A), mRNA. 68 extracellular region lung(1) 1 Lung NSC(129;0.0919)|all_epithelial(80;0.125)|all_lung(136;0.17) GTTAGAGTCTCTTGGGAATAT 0.274000 10 12 0 0 0.013537 0 0 AHNAK 79026 broad.mit.edu 37 11 62294664 62294664 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:62294664G>A uc001ntl.3 - 4 7525 c.7225C>T c.(7225-7227)Ccc>Tcc p.P2409S AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA. 2409 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) TCCAATTTGGGAACATCTACA 0.483000 44 17 0 0 0.004990 0 0 LPA 4018 broad.mit.edu 37 6 160968946 160968946 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:160968946C>T uc003qtl.3 - 32 5299 c.5179G>A c.(5179-5181)Gga>Aga p.G1727R NM_005577 NP_005568 P08519 APOA_HUMAN Homo sapiens lipoprotein, Lp(a) (LPA), mRNA. 4235 Kringle 16. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) CCCCGGTATCCTTTCCCATTC 0.488000 34 20 0 0 0.008871 0 0 OR10A2 341276 broad.mit.edu 37 11 6891351 6891351 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:6891351C>T uc001meu.1 + 0 366 c.366C>T c.(364-366)atC>atT p.I122I NM_001004460 NP_001004460 Q9H208 O10A2_HUMAN Homo sapiens olfactory receptor, family 10, subfamily A, member 2 (OR10A2), mRNA. 122 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1) 24 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) ACCCAGTCATCATGAACCAAA 0.512000 79 81 0 0 0.014410 0 0 CHDH 55349 broad.mit.edu 37 3 53857356 53857356 + Nonsense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:53857356C>T uc003dgz.3 - 2 1121 c.680G>A c.(679-681)tGg>tAg p.W227* NM_018397 NP_060867 Q8NE62 CHDH_HUMAN Homo sapiens choline dehydrogenase (CHDH), nuclear gene encoding mitochondrial protein, mRNA. 227 alcohol metabolic process choline dehydrogenase activity|flavin adenine dinucleotide binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1) 17 Hepatocellular(537;0.152) BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118) Choline(DB00122) CATGTCCATCCAGCCGAAGCC 0.607000 11 6 0 0 0.001168 0 0 SYT15 83849 broad.mit.edu 37 10 46965118 46965118 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr10:46965118G>A uc001jea.3 - 5 980 c.827C>T c.(826-828)cCc>cTc p.P276L SYT15_uc001jdz.2_Missense_Mutation_p.P276L|SYT15_uc001jeb.3_Missense_Mutation_p.P154L|SYT15_uc010qfp.1_Non-coding_Transcript NM_031912 NP_114118 Q9BQS2 SYT15_HUMAN Homo sapiens synaptotagmin XV (SYT15), transcript variant a, mRNA. 276 integral to membrane|plasma membrane cervix(1)|endometrium(5)|kidney(2)|lung(5) 13 AAACTCCGAGGGGGGCTGGGG 0.642000 105 14 0 0 0.004990 0 0 NLRC5 84166 broad.mit.edu 37 16 57100492 57100492 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr16:57100492C>T uc021tiu.1 + 32 4415 c.4288C>T c.(4288-4290)Cgc>Tgc p.R1430C NLRC5_uc010ccr.1_Non-coding_Transcript|NLRC5_uc010ccs.1_Non-coding_Transcript|NLRC5_uc002eko.1_Non-coding_Transcript|NLRC5_uc002ekq.1_5'UTR|NLRC5_uc002ekr.1_Missense_Mutation_p.R317C NM_032206 NP_115582 Q86WI3 NLRC5_HUMAN Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA. 1430 defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|RNA polymerase II core promoter sequence-specific DNA binding|protein binding NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 75 all_neural(199;0.225) GGAATTTCCTCGCCAGGAAGA 0.637000 18 13 0 0 0.004007 0 0 CCDC82 79780 broad.mit.edu 37 11 96117829 96117829 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:96117829C>T uc001pfx.4 - 3 297 c.83G>A c.(82-84)cGa>cAa p.R28Q CCDC82_uc009ywp.3_Missense_Mutation_p.R28Q|CCDC82_uc009ywr.3_Missense_Mutation_p.R28Q|CCDC82_uc009yws.3_Missense_Mutation_p.R28Q NM_024725 NP_079001 Q8N4S0 CCD82_HUMAN Homo sapiens coiled-coil domain containing 82 (CCDC82), mRNA. 28 protein binding p.R28Q(2) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1) 19 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) BRCA - Breast invasive adenocarcinoma(274;0.154) TCTTTTAGTTCGCCTCCAATC 0.353000 37 30 0 0 0.007291 0 0 OR4S2 219431 broad.mit.edu 37 11 55418847 55418847 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:55418847C>T uc001nhs.1 + 0 468 c.468C>T c.(466-468)atC>atT p.I156I NM_001004059 NP_001004059 Q8NH73 OR4S2_HUMAN Homo sapiens olfactory receptor, family 4, subfamily S, member 2 (OR4S2), mRNA. 156 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_epithelial(135;0.0748) ACTCCATTATCCAAGTGGCTC 0.433000 86 64 0 0 0.014410 0 0 SORL1 6653 broad.mit.edu 37 11 121393634 121393634 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:121393634G>A uc001pxx.3 + 10 1661 c.1532G>A c.(1531-1533)gGa>gAa p.G511E NM_003105 NP_003096 Q92673 SORL_HUMAN Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA. 511 cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity p.G511E(2) NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) GGCTCAGTGGGAAAGAACTTG 0.473000 39 24 0 0 0.005443 0 0 TRBV4-2 28616 broad.mit.edu 37 7 142045754 142045754 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr7:142045754C>T uc003vxp.4 + 1 391 c.282C>T c.(280-282)ttC>ttT p.F94F TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TRBV4-2_uc022anc.1_Non-coding_Transcript SubName: Full=V_segment translation product; Flags: Fragment; CTCACTTATTCCTTCACCTAC 0.502000 80 63 0 0 0.014410 0 0 RAF1 5894 broad.mit.edu 37 3 12645699 12645699 + Missense_Mutation SNP G A A rs80338796 TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:12645699G>A uc003bxf.4 - 6 1185 c.770C>T c.(769-771)tCg>tTg p.S257L RAF1_uc011aut.2_Missense_Mutation_p.S42L|RAF1_uc011auu.2_Missense_Mutation_p.S175L NM_002880 NP_002871 P04049 RAF1_HUMAN Homo sapiens v-raf-1 murine leukemia viral oncogene homolog 1 (RAF1), mRNA. 257 S -> L (in NS5 and LEOPARD2; shows in vitro greater kinase activity and enhanced ERK activation than wild-type). Ras protein signal transduction|activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|synaptic transmission cytosol|mitochondrial outer membrane|plasma membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity p.S257L(6)|p.S257W(2) ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6) biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1) 32 Sorafenib(DB00398) TGTGGATGTCGACCTCTGCCT 0.527000 T SRGAP3 pilocytic astrocytoma Noonan syndrome 51 46 0 0 0.011902 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140203161 140203161 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr5:140203161G>A uc003lhl.2 + 0 1801 c.1801G>A c.(1801-1803)Ggc>Agc p.G601S 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_uc003lhk.1_Missense_Mutation_p.G601S|PCDHAC2_uc003lhj.1_Missense_Mutation_p.G601S NM_018908 NP_061731 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA. 615 Cadherin 6. 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) CCCTGATTCGGGCTACAACGC 0.672000 13 31 0 0 0.009535 0 0 MECOM 2122 broad.mit.edu 37 3 168840402 168840402 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:168840402C>T uc011bpj.1 - 5 1347 c.944G>A c.(943-945)aGt>aAt p.S315N MECOM_uc010hwk.1_Missense_Mutation_p.S150N|MECOM_uc003ffj.3_Missense_Mutation_p.S191N|MECOM_uc003ffi.3_Missense_Mutation_p.S127N|MECOM_uc011bpi.1_Missense_Mutation_p.S127N|MECOM_uc003ffn.3_Missense_Mutation_p.S127N|MECOM_uc003ffk.2_Missense_Mutation_p.S127N|MECOM_uc003ffl.2_Missense_Mutation_p.S287N|MECOM_uc011bpk.1_Missense_Mutation_p.S127N|MECOM_uc010hwn.2_Missense_Mutation_p.S315N|MECOM_uc003ffm.1_Missense_Mutation_p.S191N NM_004991 NP_004982 Q13465 MDS1_HUMAN Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA. 0 sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 GTGCTTTCCACTGTCATGTGA 0.433000 36 22 0 0 0.012319 0 0 AK123067 0 broad.mit.edu 37 10 43178809 43178809 + RNA SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr10:43178809G>A uc001jah.1 - 3 c.497C>T Homo sapiens cDNA FLJ41072 fis, clone 3NB692005439. GTCTCACCATGGACTCGAGAG 0.428000 1 3 0 0 0.009096 0 0 TPTE2 93492 broad.mit.edu 37 13 19997285 19997285 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr13:19997285C>T uc001umd.3 - 20 1697 c.1486G>A c.(1486-1488)Gaa>Aaa p.E496K TPTE2_uc009zzk.3_Non-coding_Transcript|TPTE2_uc009zzl.3_Missense_Mutation_p.E385K|TPTE2_uc001ume.3_Missense_Mutation_p.E419K|TPTE2_uc009zzm.3_Missense_Mutation_p.E167K|TPTE2_uc010tcm.2_Non-coding_Transcript|TPTE2_uc010tcl.2_Missense_Mutation_p.E167K NM_199254 NP_954863 Q6XPS3 TPTE2_HUMAN Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA. 496 C2 tensin-type. endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.E419*(1)|p.E496*(1) NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) TTATCCAATTCATTTCTTGGT 0.368000 27 13 0 0 0.013537 0 0 SCN5A 6331 broad.mit.edu 37 3 38592469 38592469 + Nonsense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:38592469C>T uc021wvo.1 - 26 5446 c.5394G>A c.(5392-5394)tgG>tgA p.W1798* SCN5A_uc021wvk.1_Nonsense_Mutation_p.W1765*|SCN5A_uc021wvl.1_Nonsense_Mutation_p.W1744*|SCN5A_uc021wvm.1_Nonsense_Mutation_p.W1780*|SCN5A_uc021wvn.1_Nonsense_Mutation_p.W1797*|SCN5A_uc021wvp.1_Nonsense_Mutation_p.W1798*|SCN5A_uc021wvq.1_3'UTR|SCN5A_uc021wvr.1_3'UTR|SCN5A_uc021wvs.1_3'UTR|SCN5A_uc021wvt.1_3'UTR|SCN5A_uc021wvu.1_3'UTR|SCN5A_uc021wvv.1_3'UTR|SCN5A_uc021wvj.1_Nonsense_Mutation_p.W1610*|SCN5A_uc021wvi.1_Nonsense_Mutation_p.W1664* NM_198056 NP_932173 Q14524 SCN5A_HUMAN Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA. 1798 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) CAAATTTCTCCCAGATCTCAT 0.532000 27 34 0 0 0.012213 0 0 CHN2 1124 broad.mit.edu 37 7 29546880 29546880 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr7:29546880C>T uc003szz.3 + 10 1465 c.1028C>T c.(1027-1029)cCa>cTa p.P343L CHN2_uc011jzs.2_Missense_Mutation_p.P418L|CHN2_uc010kva.3_Intron|CHN2_uc010kvb.3_Intron|CHN2_uc010kvc.3_Missense_Mutation_p.P308L|CHN2_uc011jzt.2_Missense_Mutation_p.P356L|CHN2_uc010kvd.3_Missense_Mutation_p.P199L|CHN2_uc011jzu.2_Missense_Mutation_p.P328L|CHN2_uc010kvh.3_Intron|CHN2_uc010kvi.3_Intron|CHN2_uc010kve.3_Intron|CHN2_uc003taa.3_Missense_Mutation_p.P207L|CHN2_uc010kvf.3_Missense_Mutation_p.P149L|CHN2_uc010kvg.3_Intron|CHN2_uc010kvj.3_Intron|CHN2_uc010kvk.3_Missense_Mutation_p.P18L|CHN2_uc010kvl.3_Intron|CHN2_uc010kvm.3_Missense_Mutation_p.P162L|CHN2_uc011jzv.2_Missense_Mutation_p.P136L NM_004067 NP_004058 P52757 CHIO_HUMAN Homo sapiens chimerin (chimaerin) 2 (CHN2), transcript variant 2, mRNA. 343 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|membrane GTPase activator activity|SH3/SH2 adaptor activity|metal ion binding breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2) 23 AATGTCTATCCAGACATAAAC 0.388000 18 18 0 0 0.006122 0 0 OR6C2 341416 broad.mit.edu 37 12 55846618 55846618 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:55846618C>T uc001sgz.1 + 0 621 c.621C>T c.(619-621)atC>atT p.I207I NM_054105 NP_473446 Q9NZP2 OR6C2_HUMAN Homo sapiens olfactory receptor, family 6, subfamily C, member 2 (OR6C2), mRNA. 207 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 23 CACTCATTATCACCCTAGTTT 0.393000 66 44 0 0 0.010771 0 0 NUP210L 91181 broad.mit.edu 37 1 154002385 154002386 + Missense_Mutation DNP TC AT AT TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:154002385_154002386TC>AT uc001fdw.3 - 27 3913_3914 c.3841_3842GA>AT c.(3841-3843)gaa>ATa p.E1281I NUP210L_uc009woq.3_Missense_Mutation_p.E190I|NUP210L_uc010peh.2_Missense_Mutation_p.E1281I NM_207308 NP_997191 Q5VU65 P210L_HUMAN Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA. 1281 integral to membrane NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2) 80 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) GATCTGTACTTCATCAGAGAGT 0.401000 30 20 0 0 0.004672 0 0 CYP2C19 1557 broad.mit.edu 37 10 96540392 96540392 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr10:96540392G>A uc010qnz.2 + 3 618 c.618G>A c.(616-618)agG>agA p.R206R CYP2C19_uc009xus.1_Silent_p.R71R|CYP2C19_uc010qny.2_Silent_p.R184R NM_000769 NP_000760 P33261 CP2CJ_HUMAN Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA. 206 exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 43 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) AAAACATCAGGATTGTAAGCA 0.373000 50 28 0 0 0.008361 0 0 LGSN 51557 broad.mit.edu 37 6 63990574 63990574 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:63990574C>T uc003peh.3 - 3 916 c.882G>A c.(880-882)agG>agA p.R294R LGSN_uc003pei.3_Intron NM_016571 NP_057655 Q5TDP6 LGSN_HUMAN Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA. 294 glutamine biosynthetic process glutamate-ammonia ligase activity NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 L-Glutamic Acid(DB00142) AATTATATTTCCTTGCCACTT 0.418000 21 21 0 0 0.010504 0 0 OTOGL 283310 broad.mit.edu 37 12 80761448 80761448 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:80761448G>A uc001szd.3 + 52 6418 c.6412G>A c.(6412-6414)Gaa>Aaa p.E2138K OTOGL_uc021rba.1_Missense_Mutation_p.E157K|OTOGL_uc009zsg.2_Missense_Mutation_p.E18K NM_173591 NP_775862 Homo sapiens otogelin-like (OTOGL), mRNA. breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 GTGTCTGGAAGAAAAAGATAA 0.333000 5 8 0 0 0.004482 0 0 NCAPD3 23310 broad.mit.edu 37 11 134048799 134048799 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:134048799G>A uc001qhd.1 - 20 3198 c.2592C>T c.(2590-2592)gcC>gcT p.A864A NCAPD3_uc010scm.1_Non-coding_Transcript|NCAPD3_uc009zda.1_Non-coding_Transcript NM_015261 NP_056076 P42695 CNDD3_HUMAN Homo sapiens non-SMC condensin II complex, subunit D3 (NCAPD3), mRNA. 864 cell division|mitotic chromosome condensation nuclear centromeric heterochromatin|nuclear condensin complex methylated histone residue binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_hematologic(175;0.127) all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227) GACACAGCTGGGCTATATCCC 0.428000 14 14 0 0 0.003163 0 0 PRSS35 167681 broad.mit.edu 37 6 84234157 84234157 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:84234157G>A uc003pjz.3 + 1 1237 c.997G>A c.(997-999)Gat>Aat p.D333N PRSS35_uc010kbm.3_Missense_Mutation_p.D333N|PRSS35_uc021zce.1_Missense_Mutation_p.D333N NM_153362 NP_699193 Q8N3Z0 PRS35_HUMAN Homo sapiens protease, serine, 35 (PRSS35), transcript variant 2, mRNA. 333 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 32 all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0768) CGAATCCAATGATCTCCTTTA 0.473000 47 39 0 0 0.006999 0 0 PSG9 5678 broad.mit.edu 37 19 43772076 43772076 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:43772076C>T uc002owd.4 - 1 389 c.290G>A c.(289-291)gGa>gAa p.G97E PSG9_uc002owe.4_Missense_Mutation_p.G97E|PSG9_uc010xwm.2_Missense_Mutation_p.G97E|PSG9_uc002owf.4_Missense_Mutation_p.G97E|PSG9_uc002owg.2_Missense_Mutation_p.G97E NM_002784 NP_002775 Q00887 PSG9_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA. 97 Ig-like V-type. female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Prostate(69;0.00682) TGTTTCTCTTCCACTGTATGC 0.428000 130 80 0 0 0.014410 0 0 ANO5 203859 broad.mit.edu 37 11 22301197 22301197 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:22301197C>T uc001mqi.2 + 21 2945 c.2628C>T c.(2626-2628)ctC>ctT p.L876L ANO5_uc001mqj.2_Silent_p.L875L NM_213599 NP_998764 Q75V66 ANO5_HUMAN Homo sapiens anoctamin 5 (ANO5), transcript variant 1, mRNA. 876 chloride channel complex|endoplasmic reticulum membrane chloride channel activity breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 TCAAGATTCTCCATGATTTTG 0.348000 28 13 0 0 0.004007 0 0 SERPINA3 12 broad.mit.edu 37 14 95081325 95081325 + Missense_Mutation SNP T A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr14:95081325T>A uc001ydp.3 + 1 706 c.547T>A c.(547-549)Tac>Aac p.Y183N SERPINA3_uc001ydo.4_Missense_Mutation_p.Y208N|SERPINA3_uc010avf.1_Non-coding_Transcript|SERPINA3_uc001ydr.3_Non-coding_Transcript|SERPINA3_uc021sbb.1_Intron|SERPINA3_uc010avg.3_Missense_Mutation_p.Y183N|SERPINA3_uc001yds.3_Missense_Mutation_p.Y183N NM_001085 NP_001076 P01011 AACT_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 (SERPINA3), mRNA. 183 acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis extracellular region|nucleus DNA binding|protein binding|serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1) 40 all_cancers(154;0.0525)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228) CATCAACGACTACGTGAAGAA 0.493000 51 36 0 0 0.003271 0 0 SORL1 6653 broad.mit.edu 37 11 121416054 121416054 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:121416054C>T uc001pxx.3 + 13 2096 c.1967C>T c.(1966-1968)cCc>cTc p.P656L NM_003105 NP_003096 Q92673 SORL_HUMAN Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA. 656 cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) CGGCGGACCCCCCATGCCACA 0.542000 38 22 0 0 0.012319 0 0 TRPM5 29850 broad.mit.edu 37 11 2439583 2439583 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:2439583G>A uc010qxl.2 - 5 729 c.720C>T c.(718-720)atC>atT p.I240I TRPM5_uc001lwm.4_Silent_p.I240I|TRPM5_uc009ydn.3_Silent_p.I242I NM_014555 NP_055370 Q9NZQ8 TRPM5_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 5 (TRPM5), mRNA. 240 integral to membrane|plasma membrane receptor activity|voltage-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2) 23 Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311) BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191) CGGCCCTGGAGATCCTCTGAG 0.672000 121 101 0 0 0.014410 0 0 SREK1 140890 broad.mit.edu 37 5 65470803 65470803 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr5:65470803C>T uc003jun.3 + 9 1634 c.1514C>T c.(1513-1515)tCt>tTt p.S505F SREK1_uc010iwy.3_Missense_Mutation_p.S389F|SREK1_uc003juo.3_Missense_Mutation_p.S389F NM_001077199 NP_631907 Q8WXA9 SREK1_HUMAN Homo sapiens splicing regulatory glutamine/lysine-rich protein 1 (SREK1), transcript variant 1, mRNA. 389 RNA splicing|mRNA processing spliceosomal complex nucleic acid binding|nucleotide binding|protein binding breast(1)|kidney(3)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1) 9 AGCAGGAGTTCTTCCAGATCG 0.398000 5 12 0 0 0.006122 0 0 SYNE2 23224 broad.mit.edu 37 14 64608751 64608751 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr14:64608751C>T uc001xgl.3 + 81 15481 c.15251C>T c.(15250-15252)tCc>tTc p.S5084F SYNE2_uc001xgm.3_Missense_Mutation_p.S5084F|SYNE2_uc010apy.3_Missense_Mutation_p.S1469F|SYNE2_uc001xgn.3_Missense_Mutation_p.S46F|SYNE2_uc021rui.1_Missense_Mutation_p.S46F|SYNE2_uc001xgo.3_Non-coding_Transcript NM_182914 NP_878918 Q8WXH0 SYNE2_HUMAN Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA. 5084 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) GATGAAGACTCCGTGCATTCA 0.388000 10 12 0 0 0.013537 0 0 GABRA6 2559 broad.mit.edu 37 5 161118971 161118971 + Missense_Mutation SNP C T T rs77320885 TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr5:161118971C>T uc003lyu.2 + 7 1189 c.851C>T c.(850-852)aCc>aTc p.T284I GABRA6_uc003lyv.2_Missense_Mutation_p.T55I NM_000811 NP_000802 Q16445 GBRA6_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA. 284 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2) 57 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TTAACTATGACCACTTTGAGC 0.403000 TCGA Ovarian(5;0.080) 9 33 0 0 0.009535 0 0 UGT8 7368 broad.mit.edu 37 4 115597099 115597099 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr4:115597099G>A uc003ibs.2 + 5 1803 c.1281G>A c.(1279-1281)caG>caA p.Q427Q UGT8_uc003ibt.2_Silent_p.Q427Q|UGT8_uc011cge.1_Non-coding_Transcript NM_001128174 NP_003351 Q16880 CGT_HUMAN Homo sapiens UDP glycosyltransferase 8 (UGT8), transcript variant 1, mRNA. 427 central nervous system development|peripheral nervous system development integral to membrane 2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 31 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000632) AGAGGGCTCAGAAGCTTTCGG 0.393000 32 15 0 0 0.003163 0 0 NEFM 4741 broad.mit.edu 37 8 24776032 24776032 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr8:24776032G>A uc003xed.4 + 2 2697 c.2664G>A c.(2662-2664)gaG>gaA p.E888E NEFM_uc011lac.1_Silent_p.E670E|NEFM_uc010lue.3_Silent_p.E512E NM_005382 NP_005373 P07197 NFM_HUMAN Homo sapiens neurofilament, medium polypeptide (NEFM), transcript variant 1, mRNA. 888 Tail. neurofilament protein binding|structural constituent of cytoskeleton breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1) 36 Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) AGCATGAAGAGACCTTTGAGG 0.418000 83 59 0 0 0.014410 0 0 AK098438 0 broad.mit.edu 37 1 21752760 21752760 + RNA SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:21752760C>T uc001bep.1 - 2 c.216G>A Homo sapiens cDNA FLJ25572 fis, clone JTH05111. ACGTGTTCTTCCTCCAATGAG 0.453000 29 27 0 0 0.003755 0 0 LRP1B 53353 broad.mit.edu 37 2 141777574 141777574 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:141777574C>T uc002tvj.1 - 11 2859 c.1887G>A c.(1885-1887)ctG>ctA p.L629L LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA. 629 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) AAGCTTTTTCCAGCCTGGCCA 0.428000 TSP Lung(27;0.18) 45 38 0 0 0.004289 0 0 ERO1L 30001 broad.mit.edu 37 14 53138399 53138399 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr14:53138399G>A uc001wzv.3 - 5 677 c.457C>T c.(457-459)Ctt>Ttt p.L153F NM_014584 NP_055399 Q96HE7 ERO1A_HUMAN Homo sapiens ERO1-like (S. cerevisiae) (ERO1L), mRNA. 153 chaperone mediated protein folding requiring cofactor|electron transport chain|protein thiol-disulfide exchange|response to temperature stimulus|transport endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome disulfide oxidoreductase activity|flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor ERO1L/FERMT2(2) breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1) 12 Breast(41;0.226) GTCCACTGAAGAACAGCCTTC 0.284000 14 10 0 0 0.010729 0 0 GPR98 84059 broad.mit.edu 37 5 89924507 89924507 + Missense_Mutation SNP T C C TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr5:89924507T>C uc003kju.3 + 7 1463 c.1367T>C c.(1366-1368)cTc>cCc p.L456P GPR98_uc003kjt.3_5'UTR NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA. 456 Calx-beta 4. cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TCTGGAGTTCTCCATTTTGCA 0.478000 10 39 0 0 0.010771 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110478974 110478974 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr8:110478974G>A uc003yne.3 + 49 8685 c.8581G>A c.(8581-8583)Gat>Aat p.D2861N NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA. 2861 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) GCTTGAAAAGGATGTGGTTCT 0.388000 HNSCC(38;0.096) 5 9 0 0 0.013537 0 0 INS-IGF2 723961 broad.mit.edu 37 11 2170541 2170541 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:2170541G>A uc001lvm.3 - 2 281 c.222C>T c.(220-222)acC>acT p.T74T IGF2_uc001lvh.3_5'UTR|IGF2_uc001lvi.3_Non-coding_Transcript NM_001042376 NP_001035835 Q1WM24 Q1WM24_HUMAN Homo sapiens INS-IGF2 readthrough (INS-IGF2), transcript variant 2, mRNA. 74 glucose metabolic process extracellular region hormone activity haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1) 5 all_epithelial(84;0.00018)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24) Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239) BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.0832)|Lung(200;0.156) CCTCTGGCCAGGTTGACGTGG 0.592000 54 38 0 0 0.014410 0 0 PSMA8 143471 broad.mit.edu 37 18 23759033 23759033 + Splice_Site SNP T C C TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr18:23759033T>C uc002kvq.3 + 6 730 c.616_splice c.e6-1 p.V206_splice PSMA8_uc002kvo.3_Splice_Site_p.V162_splice|PSMA8_uc002kvp.3_Splice_Site_p.V200_splice|PSMA8_uc002kvr.3_Splice_Site_p.V174_splice NM_144662 NP_653263 Q8TAA3 PSA7L_HUMAN Homo sapiens proteasome (prosome, macropain) subunit, alpha type, 8 (PSMA8), transcript variant 1, mRNA. 206 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction cytoplasm|nucleus|proteasome core complex, alpha-subunit complex threonine-type endopeptidase activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|skin(2) 16 all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124) OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181) CTACATTAGGTTGTCCAGTCT 0.289000 34 27 0 0 0.008361 0 0 ZSWIM2 151112 broad.mit.edu 37 2 187702044 187702044 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:187702044C>T uc002upu.1 - 4 772 c.732G>A c.(730-732)ggG>ggA p.G244G NM_182521 NP_872327 Q8NEG5 ZSWM2_HUMAN Homo sapiens zinc finger, SWIM-type containing 2 (ZSWIM2), mRNA. 244 apoptosis zinc ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1) 52 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164) TATAACACTTCCCCTCAATTG 0.368000 51 22 0 0 0.002780 0 0 GPR158 57512 broad.mit.edu 37 10 25888089 25888089 + Silent SNP C A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr10:25888089C>A uc001isj.3 + 10 3594 c.3534C>A c.(3532-3534)acC>acA p.T1178T GPR158_uc001isk.3_Silent_p.T553T NM_020752 NP_065803 Q5T848 GP158_HUMAN Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA. 1178 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 AGTTTGAGACCCCAGCTCAAC 0.458000 33 25 9.57634e-11 1.01208e-10 0.003330 1 0 SLC6A19 340024 broad.mit.edu 37 5 1216695 1216695 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr5:1216695G>A uc003jbw.4 + 6 966 c.910G>A c.(910-912)Gtg>Atg p.V304M NM_001003841 NP_001003841 Q695T7 S6A19_HUMAN Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 19 (SLC6A19), mRNA. 304 cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10) Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) GAAGGACTCGGTGATTGTGTC 0.592000 9 19 0 0 0.012319 0 0 OR13C2 392376 broad.mit.edu 37 9 107367354 107367354 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr9:107367354C>T uc011lvq.2 - 0 555 c.555G>A c.(553-555)atG>atA p.M185I NM_001004481 NP_001004481 Q8NGS9 O13C2_HUMAN Homo sapiens olfactory receptor, family 13, subfamily C, member 2 (OR13C2), mRNA. 185 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 22 AGGCCAGTTTCATGACAGCCA 0.398000 38 53 0 0 0.014410 0 0 XIRP2 129446 broad.mit.edu 37 2 168107566 168107566 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:168107566C>T uc002udx.3 + 8 9753 c.9664C>T c.(9664-9666)Cgt>Tgt p.R3222C XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.R3047C|XIRP2_uc010fpq.3_Missense_Mutation_p.R3000C|XIRP2_uc010fpr.3_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA. 3047 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 TGCAACACTTCGTCGTCAAAT 0.448000 45 25 0 0 0.003330 0 0 DBC1 1620 broad.mit.edu 37 9 121929941 121929941 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr9:121929941C>T uc004bkc.2 - 7 2163 c.1707G>A c.(1705-1707)ggG>ggA p.G569G NM_014618 NP_055433 O60477 DBC1_HUMAN Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA. 569 cell cycle arrest|cell death cytoplasm protein binding p.S568R(1) NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 CCGAATGGCTCCCGCTAAAGG 0.547000 31 22 0 0 0.012319 0 0 INPP5E 56623 broad.mit.edu 37 9 139324151 139324151 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr9:139324151G>A uc004cho.3 - 9 2296 c.1911C>T c.(1909-1911)tcC>tcT p.S637S INPP5E_uc010nbm.3_Silent_p.S636S NM_019892 NP_063945 Q9NRR6 INP5E_HUMAN Homo sapiens inositol polyphosphate-5-phosphatase, 72 kDa (INPP5E), mRNA. 637 Golgi cisterna membrane|cilium axoneme|cytoskeleton inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity NS(1)|endometrium(1)|lung(4)|skin(3) 9 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05) AGATGGTGCTGGAGTTCTGAC 0.463000 126 99 0 0 0.014410 0 0 MON1A 84315 broad.mit.edu 37 3 49950665 49950665 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:49950665C>T uc003cxz.3 - 1 532 c.406G>A c.(406-408)Gga>Aga p.G136R MON1A_uc003cya.3_Missense_Mutation_p.G136R|MON1A_uc003cyb.2_Missense_Mutation_p.G136R|MON1A_uc010hlb.2_Missense_Mutation_p.G136R NM_032355 NP_115731 Q86VX9 MON1A_HUMAN Homo sapiens MON1 homolog A (yeast) (MON1A), transcript variant 1, mRNA. 39 protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1) 13 BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) GGCTCCATTCCCTGGGCCATT 0.547000 47 27 0 0 0.003954 0 0 MUC16 94025 broad.mit.edu 37 19 9089658 9089658 + Silent SNP C T T rs147920442 by1000genomes TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:9089658C>T uc002mkp.3 - 0 2361 c.2157G>A c.(2155-2157)aaG>aaA p.K719K NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 719 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGGTGCTTATCTTGGTGTGTC 0.488000 50 32 0 0 0.013726 0 0 ZNF609 23060 broad.mit.edu 37 15 64967026 64967026 + Missense_Mutation SNP C T T rs142077559 TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr15:64967026C>T uc002ann.3 + 3 1973 c.1973C>T c.(1972-1974)cCc>cTc p.P658L NM_015042 NP_055857 O15014 ZN609_HUMAN Homo sapiens zinc finger protein 609 (ZNF609), mRNA. 658 nucleus zinc ion binding breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TCAGCCCGTCCCATTGCCCCT 0.488000 42 26 0 0 0.004656 0 0 C11orf67 28971 broad.mit.edu 37 11 77553552 77553552 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:77553552C>T uc001oyq.3 + 1 108 c.10C>T c.(10-12)Cct>Tct p.P4S C11orf67_uc001oyp.3_Missense_Mutation_p.P4S|C11orf67_uc001oyr.1_Missense_Mutation_p.P4S NM_024684 NP_078960 Q9H7C9 CK067_HUMAN Homo sapiens chromosome 11 open reading frame 67 (C11orf67), mRNA. 4 stomach(2) 2 all_cancers(14;5.69e-19)|all_epithelial(13;2.15e-21)|Breast(9;1.16e-15)|Ovarian(111;0.152) Epithelial(5;1.37e-49)|all cancers(3;5.58e-46)|BRCA - Breast invasive adenocarcinoma(5;7.26e-31) TATGACTTCCCCTGAAATTGC 0.373000 25 23 0 0 0.002780 0 0 DNAH8 1769 broad.mit.edu 37 6 38793939 38793939 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:38793939G>A uc021yzh.1 + 28 3964 c.3855G>A c.(3853-3855)atG>atA p.M1285I DNAH8_uc003ooe.2_Missense_Mutation_p.M1068I NM_001206927 NP_001193856 Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA. p.L1284L(1) 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 CAGAGCCGATGAAATTGGCCT 0.358000 2 14 0 0 0.002450 0 0 SCAP 22937 broad.mit.edu 37 3 47470026 47470026 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:47470026G>A uc003crh.1 - 3 642 c.387C>T c.(385-387)atC>atT p.I129I SCAP_uc011baz.1_Intron|SCAP_uc003crg.2_Intron NM_012235 NP_036367 Q12770 SCAP_HUMAN Homo sapiens SREBF chaperone (SCAP), mRNA. 129 cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway ER to Golgi transport vesicle membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane unfolded protein binding endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 26 BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679) CGTGGTTCCGGATCTCCTCCA 0.527000 80 68 0 0 0.014410 0 0 ITM2A 9452 broad.mit.edu 37 X 78616621 78616621 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chrX:78616621C>T uc004edh.3 - 5 1094 c.757G>A c.(757-759)Gaa>Aaa p.E253K ITM2A_uc011mqr.2_Missense_Mutation_p.E209K NM_004867 NP_004858 O43736 ITM2A_HUMAN Homo sapiens integral membrane protein 2A (ITM2A), transcript variant 1, mRNA. 253 integral to membrane protein binding breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 18 ACAATAAATTCGTTGGGGAAG 0.353000 1 19 0 0 0.003330 0 0 TRAF5 7188 broad.mit.edu 37 1 211545749 211545749 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:211545749C>T uc010psx.2 + 10 1497 c.1412C>T c.(1411-1413)tCc>tTc p.S471F TRAF5_uc001hih.3_Missense_Mutation_p.S460F|TRAF5_uc001hii.3_Missense_Mutation_p.S460F|TRAF5_uc010psy.2_Missense_Mutation_p.S354F|TRAF5_uc001hij.3_Missense_Mutation_p.S460F NM_001033910 NP_665702 O00463 TRAF5_HUMAN Homo sapiens TNF receptor-associated factor 5 (TRAF5), transcript variant 3, mRNA. 460 MATH. apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis CD40 receptor complex|centrosome|internal side of plasma membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144) TCACACCTGTCCCTATACTTT 0.557000 78 34 0 0 0.004289 0 0 ZNF37BP 100129482 broad.mit.edu 37 10 43015811 43015811 + RNA SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr10:43015811G>A uc001jab.4 - 4 c.3389C>T ZNF37BP_uc001jac.4_Non-coding_Transcript|ZNF37BP_uc001jaa.4_Non-coding_Transcript Homo sapiens zinc finger protein 37B, pseudogene (ZNF37BP), non-coding RNA. TTCACTGAAGGATTTCTCCAT 0.403000 10 9 0 0 0.004482 0 0 OR8S1 341568 broad.mit.edu 37 12 48921757 48921757 + Nonsense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:48921757G>A uc010slu.2 + 1 951 c.951G>A c.(949-951)tgG>tgA p.W317* NM_001005203 NP_001005203 Q8NH09 OR8S1_HUMAN Homo sapiens olfactory receptor, family 8, subfamily S, member 1 (OR8S1), mRNA. 317 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4) 22 AGGCCAGATGGAAGAGACCAG 0.582000 28 17 0 0 0.006122 0 0 DKK3 27122 broad.mit.edu 37 11 11987501 11987501 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:11987501G>A uc010rcg.1 - 6 843 c.685C>T c.(685-687)Cct>Tct p.P229S DKK3_uc010rcf.2_Missense_Mutation_p.P201S|DKK3_uc001mju.3_Missense_Mutation_p.P229S|DKK3_uc001mjv.3_Missense_Mutation_p.P229S|DKK3_uc001mjw.3_Missense_Mutation_p.P229S NM_015881 NP_056965 Q9UBP4 DKK3_HUMAN Homo sapiens dickkopf 3 homolog (Xenopus laevis) (DKK3), transcript variant 1, mRNA. 229 DKK-type Cys-2. Wnt receptor signaling pathway|adrenal gland development|anatomical structure morphogenesis|negative regulation of aldosterone biosynthetic process|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cortisol biosynthetic process|negative regulation of transcription, DNA-dependent extracellular space breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|pancreas(1) 8 Epithelial(150;0.000502) GTGCACACAGGGAACAGCAGG 0.627000 17 14 0 0 0.001855 0 0 CFTR 1080 broad.mit.edu 37 7 117251758 117251758 + Missense_Mutation SNP A G G TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr7:117251758A>G uc003vjd.3 + 19 3395 c.3263A>G c.(3262-3264)aAc>aGc p.N1088S CFTR_uc011knq.2_Missense_Mutation_p.N494S NM_000492 NP_000483 P13569 CFTR_HUMAN Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA. 1088 ABC transmembrane type-1 2. respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9) 69 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) CATACTGCCAACTGGTTCTTG 0.403000 Cystic Fibrosis 17 18 0 0 0.006122 0 0 KIAA0513 9764 broad.mit.edu 37 16 85100992 85100992 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr16:85100992G>A uc002fiu.3 + 1 535 c.315G>A c.(313-315)aaG>aaA p.K105K KIAA0513_uc010voj.2_Silent_p.K105K|KIAA0513_uc002fit.3_Silent_p.K105K NM_014732 NP_055547 O60268 K0513_HUMAN Homo sapiens KIAA0513 (KIAA0513), mRNA. 105 cytoplasm breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1) 18 BRCA - Breast invasive adenocarcinoma(80;0.234) ACGTGGAGAAGATCTTCTCTG 0.622000 21 24 0 0 0.002780 0 0 ZNF284 342909 broad.mit.edu 37 19 44590447 44590447 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:44590447C>T uc002oyg.1 + 4 1032 c.816C>T c.(814-816)tcC>tcT p.S272S ZNF284_uc010ejd.2_Non-coding_Transcript NM_001037813 NP_001032902 Q2VY69 ZN284_HUMAN Homo sapiens zinc finger protein 284 (ZNF284), mRNA. 272 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1) 15 Prostate(69;0.0435) TTCACAATTCCCAGCTTCGGG 0.393000 35 27 0 0 0.003954 0 0 KRT76 51350 broad.mit.edu 37 12 53164827 53164827 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:53164827C>T uc001sax.3 - 6 1494 c.1440G>A c.(1438-1440)gtG>gtA p.V480V NM_015848 NP_056932 Q01546 K22O_HUMAN Homo sapiens keratin 76 (KRT76), mRNA. 480 Coil 2.|Rod. cytoskeleton organization keratin filament structural molecule activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 TGGCAATCTCCACATCCAGGG 0.552000 41 22 0 0 0.014323 0 0 FRAS1 80144 broad.mit.edu 37 4 79199862 79199862 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr4:79199862G>A uc003hlb.2 + 9 1475 c.1035G>A c.(1033-1035)agG>agA p.R345R FRAS1_uc003hkw.3_Silent_p.R345R|FRAS1_uc003hky.1_Silent_p.R49R|FRAS1_uc003hkz.3_Silent_p.R49R NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA. 345 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 GCATTTCAAGGAATGGTTATT 0.328000 24 18 0 0 0.010504 0 0 CACNA2D4 93589 broad.mit.edu 37 12 1965396 1965396 + Splice_Site SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:1965396C>T uc021qsx.1 - 21 2240 c.2009_splice c.e21-1 p.G670_splice CACNA2D4_uc009zds.2_Splice_Site|CACNA2D4_uc009zdt.1_Splice_Site_p.G534_splice|CACNA2D4_uc009zdr.2_5'Flank NM_172364 NP_758952 Q7Z3S7 CA2D4_HUMAN Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 4 (CACNA2D4), mRNA. 670 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 39 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451) TCATGCAGGCCTGAAACCAGA 0.507000 103 86 0 0 0.014410 0 0 CDH9 1007 broad.mit.edu 37 5 26988490 26988490 + Splice_Site SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr5:26988490C>T uc003jgs.1 - 2 121 c.-48_splice c.e2-1 CDH9_uc010iug.3_Splice_Site NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 TTTGTTTTTCCTAAAGAGTAA 0.313000 3 10 0 0 0.006214 0 0 TET3 200424 broad.mit.edu 37 2 74274088 74274088 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:74274088G>A uc002skb.4 + 0 639 c.639G>A c.(637-639)aaG>aaA p.K213K TET3_uc010fez.2_Silent_p.K213K NM_144993 NP_659430 O43151 TET3_HUMAN Homo sapiens tet methylcytosine dioxygenase 3 (TET3), mRNA. 213 metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GCATTGCCAAGGAAAAAAACA 0.607000 26 19 0 0 0.008871 0 0 DCSTAMP 81501 broad.mit.edu 37 8 105367210 105367210 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr8:105367210C>T uc003ylx.1 + 2 1184 c.1135C>T c.(1135-1137)Cct>Tct p.P379S NM_030788 NP_110415 Q9H295 TM7S4_HUMAN Homo sapiens transmembrane 7 superfamily member 4 (TM7SF4), mRNA. 379 osteoclast differentiation cell surface|integral to membrane|plasma membrane GACCTGGGTTCCTCTCAGTGT 0.393000 21 38 0 0 0.004289 0 0 SLC13A5 284111 broad.mit.edu 37 17 6589655 6589655 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:6589655C>T uc002gdj.3 - 11 1666 c.1578G>A c.(1576-1578)gtG>gtA p.V526V SLC13A5_uc010clq.3_Silent_p.V483V|SLC13A5_uc002gdk.3_Silent_p.V509V|SLC13A5_uc010vtf.2_Silent_p.V480V NM_177550 NP_808218 Q86YT5 S13A5_HUMAN Homo sapiens solute carrier family 13 (sodium-dependent citrate transporter), member 5 (SLC13A5), transcript variant 1, mRNA. 526 integral to membrane citrate transmembrane transporter activity breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1) 26 CTCCTGTTTTCACCTGGAAAA 0.517000 33 22 0 0 0.002780 0 0 ALPI 248 broad.mit.edu 37 2 233323452 233323452 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:233323452G>A uc002vst.4 + 9 1371 c.1294G>A c.(1294-1296)Gag>Aag p.E432K ALPI_uc002vsu.4_Missense_Mutation_p.E343K NM_001631 NP_001622 P09923 PPBI_HUMAN Homo sapiens alkaline phosphatase, intestinal (ALPI), mRNA. 432 phosphorylation anchored to membrane|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1) 24 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746) GAATGAGAGCGAGAGCGGTGA 0.652000 29 26 0 0 0.005443 0 0 MYCBP2 23077 broad.mit.edu 37 13 77641724 77641724 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr13:77641724G>A uc021rks.1 - 70 12714 c.12447C>T c.(12445-12447)ttC>ttT p.F4149F MYCBP2_uc010aev.3_Silent_p.F3515F|MYCBP2_uc001vke.3_Silent_p.F728F NM_015057 NP_055872 O75592 MYCB2_HUMAN Homo sapiens MYC binding protein 2 (MYCBP2), mRNA. 4111 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding 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) ACCTGGAATTGAAAATCATCG 0.388000 69 56 0 0 0.014410 0 0 OR52B4 143496 broad.mit.edu 37 11 4389277 4389277 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:4389277G>A uc010qye.2 - 0 340 c.249C>T c.(247-249)gcC>gcT p.A83A NM_001005161 NP_001005161 Q8NGK2 O52B4_HUMAN Homo sapiens olfactory receptor, family 52, subfamily B, member 4 (OR52B4), mRNA. 83 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2) 31 Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577) Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19) AGATAGCTAAGGCCTGAGGAA 0.527000 19 13 0 0 0.001855 0 0 ADAM2 2515 broad.mit.edu 37 8 39626980 39626980 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr8:39626980G>A uc003xnj.3 - 11 1218 c.1143C>T c.(1141-1143)ttC>ttT p.F381F ADAM2_uc003xnk.3_Silent_p.F362F|ADAM2_uc011lck.2_Silent_p.F381F|ADAM2_uc003xnl.3_Silent_p.F255F NM_001464 NP_001455 Q99965 ADAM2_HUMAN Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA. 381 cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1) 53 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) CTTGCTGTTTGAAAAAAGGAT 0.443000 26 16 0 0 0.006122 0 0 PXDN 7837 broad.mit.edu 37 2 1653137 1653137 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:1653137C>T uc002qxa.3 - 16 2479 c.2415G>A c.(2413-2415)acG>acA p.T805T NM_012293 NP_036425 Q92626 PXDN_HUMAN Homo sapiens peroxidasin homolog (Drosophila) (PXDN), mRNA. 805 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity p.T805T(2)|p.T805M(1) breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 112 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) TGACGGTCTCCGTCCCGATCA 0.652000 26 20 0 0 0.012319 0 0 PSMC3 5702 broad.mit.edu 37 11 47446711 47446711 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:47446711C>T uc001nfh.2 - 2 440 c.246G>A c.(244-246)gtG>gtA p.V82V NM_002804 NP_002795 P17980 PRS6A_HUMAN Homo sapiens proteasome (prosome, macropain) 26S subunit, ATPase, 3 (PSMC3), mRNA. 82 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|interspecies interaction between organisms|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction cytoplasm|nucleus|proteasome complex ATP binding|nucleoside-triphosphatase activity|protein binding|transcription coactivator activity|transcription corepressor activity breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)|urinary_tract(1) 17 Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13) GGGTCTTGTTCACTTTGATTT 0.507000 47 33 0 0 0.003755 0 0 SALL3 27164 broad.mit.edu 37 18 76754520 76754520 + Silent SNP G T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr18:76754520G>T uc002lmt.3 + 1 2529 c.2529G>T c.(2527-2529)ctG>ctT p.L843L SALL3_uc010dra.3_Silent_p.L450L NM_171999 NP_741996 Q9BXA9 SALL3_HUMAN Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA. 843 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) TTGCCGCCCTGGAGAACCAGA 0.667000 74 5 3.59834e-05 3.76892e-05 0.001168 1 0 ATP13A4 84239 broad.mit.edu 37 3 193156358 193156358 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:193156358G>A uc003ftd.3 - 22 2686 c.2578C>T c.(2578-2580)Cat>Tat p.H860Y ATP13A4_uc010hzi.3_Non-coding_Transcript NM_032279 NP_115655 Q4VNC1 AT134_HUMAN Homo sapiens ATPase type 13A4 (ATP13A4), mRNA. 860 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2) 71 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) ATGCCCACATGAGCCATTTTC 0.453000 18 18 0 0 0.004990 0 0 APBA1 320 broad.mit.edu 37 9 72046311 72046311 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr9:72046311G>A uc004ahh.2 - 12 2722 c.2446C>T c.(2446-2448)Cat>Tat p.H816Y NM_001163 NP_001154 Q02410 APBA1_HUMAN Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 1 (APBA1), mRNA. 816 PDZ 2. axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission synaptic vesicle endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3) 37 GTCTTCATATGAATCTGAGGG 0.622000 46 36 0 0 0.003755 0 0 IL1R1 3554 broad.mit.edu 37 2 102793102 102793102 + Nonsense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:102793102G>A uc002tbq.3 + 11 1911 c.1593G>A c.(1591-1593)tgG>tgA p.W531* IL1R1_uc010fix.3_Nonsense_Mutation_p.W500*|IL1R1_uc002tbr.3_Nonsense_Mutation_p.W531* NM_000877 NP_000868 P14778 IL1R1_HUMAN Homo sapiens interleukin 1 receptor, type I (IL1R1), mRNA. 531 TIR. innate immune response integral to plasma membrane interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3) 19 Anakinra(DB00026) CAAGGTTCTGGAAGAATGTCA 0.483000 26 20 0 0 0.007413 0 0 SCN9A 6335 broad.mit.edu 37 2 167136983 167136983 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:167136983C>T uc010fpl.3 - 13 2535 c.2194G>A c.(2194-2196)Gat>Aat p.D732N BC051759_uc002udp.3_Intron NM_002977 NP_002968 Q15858 SCN9A_HUMAN Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA. 743 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) ACAAAAGGATCCATTACAATA 0.333000 7 10 0 0 0.006214 0 0 MUC16 94025 broad.mit.edu 37 19 9075173 9075173 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:9075173C>T uc002mkp.3 - 2 12477 c.12273G>A c.(12271-12273)atG>atA p.M4091I NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 4093 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.M4091I(6)|p.G4090V(1) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TAGCAAGGATCATTCCTCCAG 0.527000 35 37 0 0 0.003755 0 0 AGXT 189 broad.mit.edu 37 2 241808730 241808730 + Silent SNP G A A rs145419586 TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:241808730G>A uc002waa.4 + 1 430 c.309G>A c.(307-309)ggG>ggA p.G103G AGXT_uc010zoi.1_Silent_p.G103G NM_000030 NP_000021 P21549 SPYA_HUMAN Homo sapiens alanine-glyoxylate aminotransferase (AGXT), mRNA. 103 glyoxylate metabolic process|protein targeting to peroxisome mitochondrial matrix|peroxisomal matrix alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1) 18 all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15) Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) TCCTGGTTGGGGCCAATGGCA 0.642000 61 47 0 0 0.014410 0 0 DNAJA3 9093 broad.mit.edu 37 16 4476020 4476020 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr16:4476020C>T uc002cwk.3 + 0 215 c.138C>T c.(136-138)ccC>ccT p.P46P DNAJA3_uc002cwl.3_Silent_p.P46P|DNAJA3_uc010uxk.2_Missense_Mutation_p.R10C NM_005147 NP_005138 Q96EY1 DNJA3_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily A, member 3 (DNAJA3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 46 activation of caspase activity|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of cell proliferation|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of protein kinase activity|neuromuscular junction development|positive regulation of apoptosis|positive regulation of protein ubiquitination|protein folding|protein stabilization|response to heat|response to interferon-gamma cytosol|mitochondrial matrix|mitochondrial nucleoid|nucleus ATP binding|NF-kappaB binding|heat shock protein binding|interferon-gamma receptor binding|metal ion binding|protein kinase binding NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|upper_aerodigestive_tract(2) 15 TGAGCGTCCCCGCCTTTGCGT 0.677000 6 7 0 0 0.003080 0 0 CCR4 1233 broad.mit.edu 37 3 32995250 32995250 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:32995250G>A uc003cfg.1 + 1 504 c.336G>A c.(334-336)atG>atA p.M112I CCR4_uc021wuw.1_Missense_Mutation_p.M112I NM_005508 NP_005499 P51679 CCR4_HUMAN Homo sapiens chemokine (C-C motif) receptor 4 (CCR4), mRNA. 112 chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response integral to plasma membrane NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1) 16 TGTGCAAGATGATTTCCTGGA 0.478000 144 95 0 0 0.014410 0 0 LPHN1 22859 broad.mit.edu 37 19 14269965 14269966 + Missense_Mutation DNP CC TT TT TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:14269965_14269966CC>TT uc010xnn.2 - 11 2396_2397 c.2100_2101GG>AA c.(2098-2103)gaggag>gaAAag p.E701K LPHN1_uc010xno.2_Missense_Mutation_p.E696K|LOC100507373_uc002myf.3_Intron NM_001008701 NP_001008701 O94910 LPHN1_HUMAN Homo sapiens latrophilin 1 (LPHN1), transcript variant 1, mRNA. 701 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 CTCGGGTACTCCTCCTGGGGGA 0.614000 59 36 0 0 0.004672 0 0 C12orf63 374467 broad.mit.edu 37 12 97082754 97082754 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:97082754C>T uc021rcc.1 + 9 1428 c.1350C>T c.(1348-1350)ctC>ctT p.L450L Q6ZTY8 CL063_HUMAN RecName: Full=Putative uncharacterized protein C12orf63; 450 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2) 54 CTGCGTTACTCTTTCAGGTAA 0.284000 37 22 0 0 0.002780 0 0 PTPN13 5783 broad.mit.edu 37 4 87622856 87622856 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr4:87622856G>A uc003hpz.3 + 6 1577 c.1097G>A c.(1096-1098)cGa>cAa p.R366Q PTPN13_uc003hpy.3_Missense_Mutation_p.R366Q|PTPN13_uc003hqa.3_Missense_Mutation_p.R366Q|PTPN13_uc003hqb.3_Missense_Mutation_p.R366Q NM_080683 NP_542414 Q12923 PTN13_HUMAN Homo sapiens protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) (PTPN13), transcript variant 1, mRNA. 366 cytoplasm|cytoskeleton|plasma membrane protein binding|protein tyrosine phosphatase activity NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00082) TATCACACTCGAGAATTGCCC 0.433000 34 32 0 0 0.013726 0 0 SYK 6850 broad.mit.edu 37 9 93606333 93606333 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr9:93606333C>T uc004aqz.3 + 1 358 c.153C>T c.(151-153)ttC>ttT p.F51F SYK_uc004ara.3_Silent_p.F51F|SYK_uc004arb.3_Silent_p.F51F|SYK_uc004arc.3_Silent_p.F51F|SYK_uc011ltt.2_Non-coding_Transcript|SYK_uc011ltr.2_Non-coding_Transcript|SYK_uc011lts.2_Non-coding_Transcript NM_003177 NP_003168 P43405 KSYK_HUMAN Homo sapiens spleen tyrosine kinase (SYK), transcript variant 1, mRNA. 51 SH2 1. cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly T cell receptor complex|cytosol ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2) 26 TGGGTGGCTTCGCCCTGTCCG 0.637000 T """ETV6, ITK""" """MDS, peripheral T-cell lymphoma""" 10 13 0 0 0.001855 0 0 abParts 0 broad.mit.edu 37 14 107211013 107211013 + RNA SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr14:107211013G>A uc021ser.1 - 15 c.1361C>T Parts of antibodies, mostly variable regions. AATCATCTCTGGAGATGGTGA 0.517000 39 27 0 0 0.006320 0 0 C4orf17 84103 broad.mit.edu 37 4 100434341 100434341 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr4:100434341C>T uc003huw.3 + 1 465 c.103C>T c.(103-105)Ccc>Tcc p.P35S C4orf17_uc003hux.3_Non-coding_Transcript NM_032149 NP_115525 Q53FE4 CD017_HUMAN Homo sapiens chromosome 4 open reading frame 17 (C4orf17), mRNA. 35 central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3) 18 OV - Ovarian serous cystadenocarcinoma(123;2.08e-08) CACCCCTCATCCCAGAAGAGT 0.468000 52 30 0 0 0.008361 0 0 MGA 23269 broad.mit.edu 37 15 42019410 42019410 + Nonsense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr15:42019410C>T uc010ucy.2 + 9 3644 c.3463C>T c.(3463-3465)Cga>Tga p.R1155* MGA_uc010ucz.2_Nonsense_Mutation_p.R1155* NM_001164273 NP_001157745 Q8IWI9 MGAP_HUMAN Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA. 1155 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) ACAGCCTGTTCGACATTACCC 0.408000 16 18 0 0 0.007413 0 0 EPHB3 2049 broad.mit.edu 37 3 184298380 184298381 + Missense_Mutation DNP CC TT TT rs146519815 TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:184298380_184298381CC>TT uc003foz.3 + 11 2800_2801 c.2363_2364CC>TT c.(2362-2364)tcc>tTT p.S788F NM_004443 NP_004434 P54753 EPHB3_HUMAN Homo sapiens EPH receptor B3 (EPHB3), mRNA. 788 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_cancers(143;1.89e-10)|Ovarian(172;0.0339) Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22) GATGACCCCTCCGATCCTACCT 0.649000 43 24 0 0 0.004672 0 0 MRGPRX4 117196 broad.mit.edu 37 11 18195625 18195625 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:18195625C>T uc001mnv.1 + 0 1242 c.822C>T c.(820-822)ttC>ttT p.F274F NM_054032 NP_473373 Q96LA9 MRGX4_HUMAN Homo sapiens MAS-related GPR, member X4 (MRGPRX4), mRNA. 274 integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 TTTACTTCTTCGTGGGCTCCT 0.488000 54 44 0 0 0.014410 0 0 GRM5 2915 broad.mit.edu 37 11 88386377 88386377 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:88386377C>T uc001pcq.3 - 2 1306 c.1106G>A c.(1105-1107)gGg>gAg p.G369E GRM5_uc009yvm.3_Missense_Mutation_p.G369E NM_001143831 NP_001137303 P41594 GRM5_HUMAN Homo sapiens glutamate receptor, metabotropic 5 (GRM5), transcript variant a, mRNA. 369 activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) CTGTGGAAACCCTTCCAGTCG 0.383000 29 23 0 0 0.002780 0 0 OIT3 170392 broad.mit.edu 37 10 74658754 74658754 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr10:74658754C>T uc001jte.1 + 1 612 c.394C>T c.(394-396)Cgt>Tgt p.R132C OIT3_uc009xqs.1_Non-coding_Transcript NM_152635 NP_689848 Q8WWZ8 OIT3_HUMAN Homo sapiens oncoprotein induced transcript 3 (OIT3), mRNA. 132 nuclear envelope calcium ion binding autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2) 35 Prostate(51;0.0198) CTATGTGTATCGTCTGACCAA 0.547000 47 32 0 0 0.006999 0 0 UBE4B 10277 broad.mit.edu 37 1 10195157 10195157 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:10195157C>T uc021ogc.1 + 16 2978 c.2290C>T c.(2290-2292)Cac>Tac p.H764Y UBE4B_uc001aqs.4_Missense_Mutation_p.H713Y|UBE4B_uc001aqr.4_Missense_Mutation_p.H584Y|UBE4B_uc010oai.2_Non-coding_Transcript|UBE4B_uc010oaj.2_Missense_Mutation_p.H168Y NM_001105562 NP_001099032 O95155 UBE4B_HUMAN Homo sapiens ubiquitination factor E4B (UBE4B), transcript variant 1, mRNA. 713 apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV cytoplasm|ubiquitin ligase complex enzyme binding NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 48 all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046) GTATATTTTTCACCCAAGATG 0.418000 7 20 0 0 0.007413 0 0 C10orf62 414157 broad.mit.edu 37 10 99349867 99349867 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr10:99349867C>T uc001koa.3 + 0 418 c.213C>T c.(211-213)tcC>tcT p.S71S PI4K2A_uc001knx.2_Intron|PI4K2A_uc001kny.3_Intron|PI4K2A_uc001knz.3_Intron|PI4K2A_uc010qoy.1_Intron NM_001009997 NP_001009997 Q5T681 CJ062_HUMAN Homo sapiens chromosome 10 open reading frame 62 (C10orf62), mRNA. 71 protein binding endometrium(2)|kidney(1)|lung(1) 4 Colorectal(252;0.162) Epithelial(162;9.58e-11)|all cancers(201;8.62e-09) AGGTCAGCTCCACGGTTCACA 0.582000 30 27 0 0 0.003954 0 0 CTNND2 1501 broad.mit.edu 37 5 11236916 11236916 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr5:11236916G>A uc003jfa.1 - 9 1793 c.1648C>T c.(1648-1650)Ccg>Tcg p.P550S CTNND2_uc010itt.2_Missense_Mutation_p.P459S|CTNND2_uc011cmy.1_Missense_Mutation_p.P213S|CTNND2_uc011cmz.1_Missense_Mutation_p.P117S|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Missense_Mutation_p.P117S NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA. 550 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding p.D549Y(1) NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 GGCAGTTCCGGGTCTCTCCAT 0.478000 11 34 0 0 0.006230 0 0 MAOB 4129 broad.mit.edu 37 X 43637955 43637955 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chrX:43637955C>T uc004dfz.4 - 10 1287 c.1111G>A c.(1111-1113)Gtt>Att p.V371I MAOB_uc011mkx.2_Missense_Mutation_p.V355I|MAOB_uc011mky.2_Missense_Mutation_p.V355I NM_000898 NP_000889 P27338 AOFB_HUMAN Homo sapiens monoamine oxidase B (MAOB), nuclear gene encoding mitochondrial protein, mRNA. 371 xenobiotic metabolic process integral to membrane|mitochondrial outer membrane electron carrier activity|primary amine oxidase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5) 21 Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752) GAACCCAGAACCTTGGCATAG 0.448000 0 14 0 0 0.004990 0 0 ETS2 2114 broad.mit.edu 37 21 40190484 40190484 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr21:40190484C>T uc002yxf.3 + 7 1185 c.1145C>T c.(1144-1146)tCt>tTt p.S382F ETS2_uc002yxg.3_Missense_Mutation_p.S242F NM_005239 NP_005230 P15036 ETS2_HUMAN Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog 2 (avian) (ETS2), transcript variant 1, mRNA. 242 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) TTCCCCAAGTCTCGGCTCAGC 0.547000 160 122 0 0 0.014410 0 0 EPHA3 2042 broad.mit.edu 37 3 89528570 89528570 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:89528570C>T uc003dqy.3 + 16 3095 c.2870C>T c.(2869-2871)aCc>aTc p.T957I EPHA3_uc021xbf.1_3'UTR NM_005233 NP_005224 P29320 EPHA3_HUMAN Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA. 957 SAM. extracellular region|integral to plasma membrane ATP binding NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) GTTGGTGTCACCGTGGTTGGG 0.413000 TSP Lung(6;0.00050) 39 24 0 0 0.005443 0 0 HYDIN 54768 broad.mit.edu 37 16 71025194 71025194 + Splice_Site SNP A C C TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr16:71025194A>C uc002ezr.3 - 25 4040 c.3889_splice c.e25+1 p.E1297_splice NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA. 1298 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) TGACCTGCCTACCCTCCCCAT 0.473000 21 9 0 0 0.008291 0 0 DUSP13 51207 broad.mit.edu 37 10 76855508 76855508 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr10:76855508G>A uc001jwr.3 - 2 282 c.219C>T c.(217-219)acC>acT p.T73T DUSP13_uc001jws.3_3'UTR|DUSP13_uc001jwu.3_Silent_p.T166T|DUSP13_uc001jww.3_Silent_p.T123T|DUSP13_uc009xrs.3_Silent_p.T166T|DUSP13_uc001jwt.3_Silent_p.T166T|DUSP13_uc001jwv.3_Silent_p.T73T NM_016364 NP_057448 Q6B8I1 MDSP_HUMAN Homo sapiens dual specificity phosphatase 13 (DUSP13), transcript variant 6, mRNA. 65 Tyrosine-protein phosphatase. K -> R (in dbSNP:rs7912300). cytoplasm protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1) 8 all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348) TCACAACGTGGGTGATTCCCA 0.577000 61 51 0 0 0.014410 0 0 NR1H2 7376 broad.mit.edu 37 19 50880885 50880885 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:50880885C>T uc010enw.3 + 2 492 c.23C>T c.(22-24)tCc>tTc p.S8F NR1H2_uc002prv.4_Non-coding_Transcript|NR1H2_uc002psa.4_Missense_Mutation_p.S8F NM_007121 NP_009052 P55055 NR1H2_HUMAN Homo sapiens nuclear receptor subfamily 1, group H, member 2 (NR1H2), mRNA. 8 negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2) 8 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186) ACCACGAGTTCCCTGGATACC 0.567000 22 16 0 0 0.007413 0 0 MAGEB2 4113 broad.mit.edu 37 X 30237372 30237372 + Silent SNP A G G TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chrX:30237372A>G uc022buf.1 + 0 675 c.675A>G c.(673-675)gaA>gaG p.E225E MAGEB2_uc004dbz.3_Silent_p.E225E NM_002364 NP_002355 O15479 MAGB2_HUMAN Homo sapiens melanoma antigen family B, 2 (MAGEB2), mRNA. 225 MAGE. protein binding p.W224L(1) breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1) 23 AGATCTGGGAATTCCTGAATA 0.483000 26 4 0 0 0.009096 0 0 SRL 6345 broad.mit.edu 37 16 4242246 4242246 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr16:4242246C>T uc002cvz.4 - 5 1343 c.1330G>A c.(1330-1332)Ggt>Agt p.G444S SRL_uc002cvy.4_Non-coding_Transcript NM_001098814 NP_001092284 Q86TD4 SRCA_HUMAN Homo sapiens sarcalumenin (SRL), mRNA. 903 Acidic domain, probably binds calcium (By similarity). sarcoplasmic reticulum lumen GTP binding|GTPase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3) 21 CCGAGGCTACCCAGGAGGCCC 0.542000 62 34 0 0 0.004289 0 0 SNTN 132203 broad.mit.edu 37 3 63638372 63638372 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:63638372C>T uc003dlr.3 + 0 29 c.9C>T c.(7-9)ggC>ggT p.G3G NM_001080537 NP_001074006 A6NMZ2 SNTAN_HUMAN Homo sapiens sentan, cilia apical structure protein (SNTN), mRNA. 3 cilium calcium ion binding endometrium(2)|ovary(1) 3 GAATGGGTGGCTGTATGCACA 0.478000 23 9 0 0 0.004482 0 0 KCNIP3 30818 broad.mit.edu 37 2 96040908 96040908 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:96040908C>T uc002sup.3 + 4 514 c.399C>T c.(397-399)ttC>ttT p.F133F KCNIP3_uc002suq.3_Silent_p.F107F NM_013434 NP_038462 Q9Y2W7 CSEN_HUMAN Homo sapiens Kv channel interacting protein 3, calsenilin (KCNIP3), transcript variant 1, mRNA. 133 EF-hand 2. apoptosis|signal transduction|transcription, DNA-dependent Golgi apparatus|endoplasmic reticulum|nucleus|plasma membrane DNA binding|calcium ion binding|potassium channel activity|transcription corepressor activity|voltage-gated ion channel activity NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 16 READ - Rectum adenocarcinoma(193;0.13) ATGCACACTTCCTCTTCAACG 0.637000 74 35 0 0 0.006230 0 0 WBSCR17 64409 broad.mit.edu 37 7 71036297 71036297 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr7:71036297C>T uc003tvy.3 + 5 990 c.990C>T c.(988-990)ttC>ttT p.F330F WBSCR17_uc003tvz.3_Silent_p.F29F NM_022479 NP_071924 Q6IS24 GLTL3_HUMAN Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA. 330 Catalytic subdomain B. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding p.S329S(1)|p.S329L(1) NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) GCTGCTCGTTCGTGGTCAACA 0.507000 63 39 0 0 0.005524 0 0 ZNF814 730051 broad.mit.edu 37 19 58386284 58386284 + Silent SNP T C C rs148592080 by1000genomes TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:58386284T>C uc002qqo.2 - 2 746 c.474A>G c.(472-474)gcA>gcG p.A158A ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.2_Intron NM_001144989 NP_001138461 B7Z6K7 ZN814_HUMAN Homo sapiens zinc finger protein 814 (ZNF814), mRNA. 158 A -> V (in Ref. 1; BAH13293). regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 TACACCTCTTTGCAAACAACG 0.493000 43 3 0 0 0.004672 0 0 PIK3R6 146850 broad.mit.edu 37 17 8726794 8726794 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:8726794G>A uc002glq.1 - 13 1776 c.1536C>T c.(1534-1536)tcC>tcT p.S512S PIK3R6_uc002glr.1_Non-coding_Transcript|PIK3R6_uc002gls.1_Non-coding_Transcript NM_001010855 NP_001010855 Q5UE93 PI3R6_HUMAN Homo sapiens phosphoinositide-3-kinase, regulatory subunit 6 (PIK3R6), mRNA. 512 platelet activation cytosol CCACAGTCCGGGATGTGTCCA 0.522000 4 7 0 0 0.003080 0 0 IPW 3653 broad.mit.edu 37 15 25335008 25335008 + RNA SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr15:25335008C>T uc001yyb.4 + 4 c.751C>T IPW_uc001yxh.1_Intron|IPW_uc001yxm.1_Intron|IPW_uc001yxn.4_Intron|IPW_uc001yxy.3_Non-coding_Transcript|IPW_uc001yyd.3_Non-coding_Transcript|IPW_uc001yyg.1_5'Flank|SNORD116-23_uc001yyh.3_5'Flank Homo sapiens imprinted in Prader-Willi syndrome (non-protein coding) (IPW), non-coding RNA. TGGATCCCTCCTGAATGTAAG 0.493000 10 12 0 0 0.001855 0 0 EPHA7 2045 broad.mit.edu 37 6 93956676 93956676 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:93956676G>A uc003poe.3 - 14 2801 c.2560C>T c.(2560-2562)Cgt>Tgt p.R854C EPHA7_uc003pof.3_Missense_Mutation_p.R849C|EPHA7_uc011eac.2_Missense_Mutation_p.R850C NM_004440 NP_004431 Q15375 EPHA7_HUMAN Homo sapiens EPH receptor A7 (EPHA7), mRNA. 854 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity p.R854C(2) NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1) 112 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) GCTGGTAAACGATAACCTTCT 0.393000 29 16 0 0 0.003163 0 0 RYR2 6262 broad.mit.edu 37 1 237947970 237947970 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:237947970G>A uc001hyl.1 + 89 13078 c.12958G>A c.(12958-12960)Gaa>Aaa p.E4320K RYR2_uc010pya.2_Missense_Mutation_p.E735K NM_001035 NP_001026 Q92736 RYR2_HUMAN Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA. 4320 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding p.G4319S(1) NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) AAGCCTCGTCGAAGGTGCTAA 0.517000 36 27 0 0 0.009535 0 0 POLL 27343 broad.mit.edu 37 10 103345652 103345652 + Missense_Mutation SNP T A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr10:103345652T>A uc001ktg.1 - 1 1143 c.377A>T c.(376-378)gAt>gTt p.D126V DPCD_uc010qpz.2_Intron|POLL_uc001ktd.1_5'Flank|POLL_uc001kte.1_5'Flank|POLL_uc001kth.1_Intron|POLL_uc001ktj.2_Missense_Mutation_p.D126V|POLL_uc010qqb.2_Intron|POLL_uc001ktf.3_Missense_Mutation_p.D126V|POLL_uc001kti.2_Missense_Mutation_p.D126V|POLL_uc001ktl.3_Missense_Mutation_p.D38V|POLL_uc001ktm.3_Missense_Mutation_p.D126V|POLL_uc010qqc.2_5'UTR|POLL_uc010qqa.2_Intron|POLL_uc010qqd.2_Missense_Mutation_p.D38V|DPCD_uc001ktn.3_5'Flank NM_013274 NP_037406 Q9UGP5 DPOLL_HUMAN Homo sapiens polymerase (DNA directed), lambda (POLL), transcript variant 2, mRNA. 126 BRCT. DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes nucleus DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2) 19 Colorectal(252;0.234) Epithelial(162;1.55e-08)|all cancers(201;6.64e-07) TCCAGCTACATCCACCAGCCT 0.527000 DNA polymerases (catalytic subunits) 22 21 0 0 0.002780 0 0 CHMP7 91782 broad.mit.edu 37 8 23106782 23106782 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr8:23106782C>T uc003xdc.2 + 2 1007 c.359C>T c.(358-360)tCc>tTc p.S120F CHMP7_uc011kzs.1_Intron|CHMP7_uc003xdd.2_Missense_Mutation_p.S10F NM_152272 NP_689485 Q8WUX9 CHMP7_HUMAN Homo sapiens charged multivesicular body protein 7 (CHMP7), mRNA. 120 cellular membrane organization|late endosome to vacuole transport ESCRT III complex|cytosol protein transporter activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1) 11 Prostate(55;0.0513) Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632) AGCTGGATCTCCTGGGGGGTT 0.542000 50 29 0 0 0.008361 0 0 DSG1 1828 broad.mit.edu 37 18 28913665 28913665 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr18:28913665C>T uc002kwp.3 + 6 1010 c.798C>T c.(796-798)atC>atT p.I266I NM_001942 NP_001933 Q02413 DSG1_HUMAN Homo sapiens desmoglein 1 (DSG1), mRNA. 266 Cadherin 2. calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 76 OV - Ovarian serous cystadenocarcinoma(10;0.00559) ATGATAATATCCCTTACATGG 0.393000 37 23 0 0 0.003330 0 0 LRRC56 115399 broad.mit.edu 37 11 551784 551784 + Silent SNP T A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:551784T>A uc010qvz.2 + 9 1435 c.930T>A c.(928-930)tcT>tcA p.S310S NM_198075 NP_932341 Q8IYG6 LRC56_HUMAN Homo sapiens leucine rich repeat containing 56 (LRRC56), mRNA. 310 kidney(1)|lung(4)|skin(1) 6 all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) GCCTGCTTTCTGAGGACCTGG 0.672000 15 14 0 0 0.003163 0 0 ZFHX3 463 broad.mit.edu 37 16 72828134 72828134 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr16:72828134G>A uc002fck.3 - 8 9120 c.8447C>T c.(8446-8448)cCc>cTc p.P2816L ZFHX3_uc002fcl.3_Missense_Mutation_p.P1902L NM_006885 NP_008816 Q15911 ZFHX3_HUMAN Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA. 2816 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) GGACATGGAGGGGCTTTCAAA 0.463000 47 51 0 0 0.014410 0 0 GALNTL6 442117 broad.mit.edu 37 4 173803993 173803993 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr4:173803993G>A uc003isv.3 + 7 1712 c.976G>A c.(976-978)Gaa>Aaa p.E326K NM_001034845 NP_001030017 Q49A17 GLTL6_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6 (GALNTL6), mRNA. 326 Catalytic subdomain B. Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 45 ATGGTTTTGGGAATTGGGTGG 0.418000 69 49 0 0 0.014410 0 0 OR2L2 26246 broad.mit.edu 37 1 248201969 248201969 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:248201969C>T uc001idw.3 + 0 496 c.400C>T c.(400-402)Cgt>Tgt p.R134C OR2L13_uc001ids.3_Intron NM_001004686 NP_001004686 Q8NH16 OR2L2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily L, member 2 (OR2L2), mRNA. 134 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I133V(1) NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1) 42 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) CTATCCCATCCGTATAAGCAA 0.428000 58 43 0 0 0.008740 0 0 CACNA1D 776 broad.mit.edu 37 3 53814129 53814129 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:53814129G>A uc003dgv.4 + 37 4827 c.4664G>A c.(4663-4665)cGa>cAa p.R1555Q CACNA1D_uc003dgu.4_Missense_Mutation_p.R1575Q|CACNA1D_uc003dgy.4_Missense_Mutation_p.R1540Q|CACNA1D_uc003dgw.4_Missense_Mutation_p.R1222Q|CACNA1D_uc003dgx.1_Missense_Mutation_p.R731Q NM_001128840 NP_001122312 Q01668 CAC1D_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA. 1555 axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) GCTTTGGTTCGAACGGCTCTT 0.468000 32 33 0 0 0.003755 0 0 PARP14 54625 broad.mit.edu 37 3 122414336 122414336 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:122414336C>T uc003efq.4 + 4 721 c.662C>T c.(661-663)cCa>cTa p.P221L PARP14_uc021xdc.1_Missense_Mutation_p.P85L|PARP14_uc010hrk.3_Non-coding_Transcript NM_017554 NP_060024 Q460N5 PAR14_HUMAN Homo sapiens poly (ADP-ribose) polymerase family, member 14 (PARP14), mRNA. 221 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane NAD+ ADP-ribosyltransferase activity NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(114;0.0531) CAGCTTTCTCCAAGACTTCTG 0.338000 9 9 0 0 0.001855 0 0 RBMXL2 27288 broad.mit.edu 37 11 7111098 7111098 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:7111098G>A uc001mfc.2 + 0 934 c.747G>A c.(745-747)cgG>cgA p.R249R NM_014469 NP_055284 O75526 HNRGT_HUMAN Homo sapiens RNA binding motif protein, X-linked-like 2 (RBMXL2), mRNA. 249 Arg/Gly/Pro-rich. nucleus|ribonucleoprotein complex RNA binding|nucleotide binding NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) CCAGTGTCCGGGACGACTGTC 0.652000 32 12 0 0 0.001855 0 0 OR4K13 390433 broad.mit.edu 37 14 20502796 20502796 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr14:20502796C>T uc010tkz.2 - 0 122 c.122G>A c.(121-123)gGa>gAa p.G41E NM_001004714 NP_001004714 Q8NH42 OR4KD_HUMAN Homo sapiens olfactory receptor, family 4, subfamily K, member 13 (OR4K13), mRNA. 41 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4) 24 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) GAGCAGGTTTCCTAACACAAT 0.418000 22 24 0 0 0.002780 0 0 ILDR2 387597 broad.mit.edu 37 1 166927084 166927084 + Nonsense_Mutation SNP G A A rs141350747 TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:166927084G>A uc001gdx.2 - 1 357 c.301C>T c.(301-303)Cga>Tga p.R101* NM_199351 NP_955383 Q71H61 ILDR2_HUMAN Homo sapiens immunoglobulin-like domain containing receptor 2 (ILDR2), mRNA. 101 Ig-like V-type. integral to membrane NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 22 GCTACTACTCGAACAGTCCTC 0.498000 54 39 0 0 0.006230 0 0 KRT35 3886 broad.mit.edu 37 17 39637025 39637025 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:39637025C>T uc002hws.3 - 0 368 c.325G>A c.(325-327)Gcc>Acc p.A109T NM_002280 NP_002271 Q92764 KRT35_HUMAN Homo sapiens keratin 35 (KRT35), mRNA. 109 Coil 1A.|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) AGGTAGCCGGCCAGGCGGTCG 0.632000 51 27 0 0 0.007291 0 0 NLGN4X 57502 broad.mit.edu 37 X 5811130 5811130 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chrX:5811130C>T uc010ndi.3 - 6 2754 c.2290G>A c.(2290-2292)Gaa>Aaa p.E764K NLGN4X_uc004crp.3_Missense_Mutation_p.E747K|NLGN4X_uc010ndh.3_Missense_Mutation_p.E727K|NLGN4X_uc004crq.3_Missense_Mutation_p.E727K|NLGN4X_uc004crr.3_Missense_Mutation_p.E727K|NLGN4X_uc010ndj.3_Missense_Mutation_p.E727K NM_181332 NP_851849 Q8N0W4 NLGNX_HUMAN Homo sapiens neuroligin 4, X-linked (NLGN4X), transcript variant 2, mRNA. 727 brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity p.E727*(1)|p.E727K(1)|p.T763R(1) breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 81 ATGATCTCTTCGTTCTGGATG 0.552000 0 25 0 0 0.003330 0 0 ANKS1B 56899 broad.mit.edu 37 12 99145141 99145141 + Nonsense_Mutation SNP T A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:99145141T>A uc001tge.2 - 24 4081 c.3664A>T c.(3664-3666)Aag>Tag p.K1222* ANKS1B_uc001tgf.2_Nonsense_Mutation_p.K738*|ANKS1B_uc001tgk.3_Nonsense_Mutation_p.K519*|ANKS1B_uc010svd.2_Nonsense_Mutation_p.K228*|ANKS1B_uc001tgd.2_Nonsense_Mutation_p.K388*|ANKS1B_uc009ztp.3_Nonsense_Mutation_p.K253*|ANKS1B_uc010svf.2_Nonsense_Mutation_p.K252*|ANKS1B_uc010sve.2_Nonsense_Mutation_p.K252*|ANKS1B_uc001tgh.4_Nonsense_Mutation_p.K228*|ANKS1B_uc009ztr.3_Nonsense_Mutation_p.K412*|ANKS1B_uc001tgj.3_Nonsense_Mutation_p.K388*|ANKS1B_uc001tgi.3_Nonsense_Mutation_p.K472*|ANKS1B_uc009zts.2_Nonsense_Mutation_p.K448*|ANKS1B_uc001tgg.4_Nonsense_Mutation_p.K320*|ANKS1B_uc010svg.2_Nonsense_Mutation_p.K357* NM_152788 NP_690001 Q7Z6G8 ANS1B_HUMAN Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1B (ANKS1B), transcript variant 1, mRNA. 1222 Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1) 70 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) ACCACGGACTTGCGAATGCTA 0.498000 26 20 0 0 0.012319 0 0 PDZD3 79849 broad.mit.edu 37 11 119059486 119059487 + Nonsense_Mutation DNP CC TT TT TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:119059486_119059487CC>TT uc001pwb.3 + 6 1919_1920 c.1395_1396CC>TT c.(1393-1398)tcccga>tcTTga p.R466* PDZD3_uc001pvz.3_Nonsense_Mutation_p.R400*|PDZD3_uc010rzd.2_Nonsense_Mutation_p.R387*|PDZD3_uc001pvy.3_Nonsense_Mutation_p.R386*|PDZD3_uc001pwa.3_Nonsense_Mutation_p.R96* Q86UT5 NHRF4_HUMAN Homo sapiens PDZ domain containing 3 (PDZD3), transcript variant 3, non-coding RNA. 466 cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport apical part of cell|brush border|cytosol|membrane fraction|subapical complex guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding p.S385S(1) breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1) 14 all_hematologic(175;0.0977) Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;7.52e-05) CTCTTGGCTCCCGACAGTGCTT 0.619000 44 42 0 0 0.004672 0 0 TSHZ2 128553 broad.mit.edu 37 20 51871782 51871782 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr20:51871782C>T uc002xwo.3 + 1 2672 c.1785C>T c.(1783-1785)gcC>gcT p.A595A TSHZ2_uc021wex.1_Silent_p.A592A NM_173485 NP_775756 Q9NRE2 TSH2_HUMAN Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA. 595 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.A595A(2)|p.A595S(1) NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) CACACCTGGCCCCTTACACTC 0.517000 39 45 0 0 0.010771 0 0 PRKACA 5566 broad.mit.edu 37 19 14208443 14208443 + Missense_Mutation SNP C A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:14208443C>A uc002myc.3 - 6 790 c.590G>T c.(589-591)tGg>tTg p.W197L PRKACA_uc002myb.3_Missense_Mutation_p.W189L|PRKACA_uc010xnm.1_Missense_Mutation_p.W139L|PRKACA_uc002myd.3_Missense_Mutation_p.W139L NM_002730 NP_002721 P17612 KAPCA_HUMAN Homo sapiens protein kinase, cAMP-dependent, catalytic, alpha (PRKACA), transcript variant 1, mRNA. 197 Protein kinase. G2/M transition of mitotic cell cycle|activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1) 16 GCACAAGGTCCAAGTGCGGCC 0.637000 37 27 4.7796e-09 5.0332e-09 0.004656 1 0 MCC 4163 broad.mit.edu 37 5 112399763 112399763 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr5:112399763C>T uc003kql.4 - 13 2547 c.2131G>A c.(2131-2133)Gac>Aac p.D711N MCC_uc003kqj.4_Missense_Mutation_p.D521N|MCC_uc003kqk.4_Non-coding_Transcript|MCC_uc011cwb.1_Missense_Mutation_p.D521N NM_001085377 NP_001078846 P23508 CRCM_HUMAN Homo sapiens mutated in colorectal cancers (MCC), transcript variant 1, mRNA. 521 Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation cytoplasm|nucleus|plasma membrane protein binding|receptor activity endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) CAGCTGCCGTCCAGCTTCATG 0.607000 10 31 0 0 0.013726 0 0 PICALM 8301 broad.mit.edu 37 11 85701401 85701401 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:85701401G>A uc001pbm.3 - 12 1617 c.1300C>T c.(1300-1302)Cca>Tca p.P434S PICALM_uc001pbl.3_Intron|PICALM_uc001pbn.3_Missense_Mutation_p.P427S|PICALM_uc010rtl.2_Intron|PICALM_uc010rtk.2_Intron|PICALM_uc001pbo.1_Missense_Mutation_p.P66S NM_007166 NP_009097 Q13492 PICAL_HUMAN Homo sapiens phosphatidylinositol binding clathrin assembly protein (PICALM), transcript variant 1, mRNA. 434 clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization Golgi apparatus|clathrin coat|clathrin-coated vesicle|coated pit|nucleus|postsynaptic membrane|presynaptic membrane 1-phosphatidylinositol binding|clathrin heavy chain binding endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 19 Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092) TTTAAGCTTGGAATGGCATCA 0.353000 T """MLLT10, MLL""" """TALL, AML, """ 35 22 0 0 0.014323 0 0 SLC9C2 284525 broad.mit.edu 37 1 173494046 173494046 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:173494046G>A uc001giz.2 - 19 2809 c.2386C>T c.(2386-2388)Cgt>Tgt p.R796C SLC9C2_uc009wwe.2_Missense_Mutation_p.R354C|SLC9C2_uc010pmq.1_Non-coding_Transcript NM_178527 NP_848622 Q5TAH2 S9A11_HUMAN Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA. 796 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity ACAACATCACGACCCTCATGC 0.348000 35 28 0 0 0.006320 0 0 DOCK3 1795 broad.mit.edu 37 3 51264789 51264789 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:51264789C>T uc011bds.2 + 15 1476 c.1453C>T c.(1453-1455)Cct>Tct p.P485S NM_004947 NP_004938 Q8IZD9 DOCK3_HUMAN Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA. 485 DHR-1. cytoplasm GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) CAGTAATAGTCCTCGCTGGGG 0.468000 61 52 0 0 0.014410 0 0 ATP12A 479 broad.mit.edu 37 13 25281489 25281489 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr13:25281489C>T uc010aaa.3 + 16 2762 c.2429C>T c.(2428-2430)cCc>cTc p.P810L ATP12A_uc001upp.3_Missense_Mutation_p.P804L NM_001185085 NP_001172014 P54707 AT12A_HUMAN Homo sapiens ATPase, H+/K+ transporting, nongastric, alpha polypeptide (ATP12A), transcript variant 1, mRNA. 804 ATP biosynthetic process hydrogen:potassium-exchanging ATPase complex ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5) 74 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228) Esomeprazole(DB00736)|Pantoprazole(DB00213) GAGCTGTGCCCCTTTCTGATC 0.498000 66 65 0 0 0.014410 0 0 CAMK1D 57118 broad.mit.edu 37 10 12708735 12708735 + Splice_Site SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr10:12708735G>A uc001ilo.3 + 3 460 c.225_splice c.e3-1 p.K75_splice CAMK1D_uc001iln.3_Splice_Site_p.K75_splice NM_153498 NP_705718 Q8IU85 KCC1D_HUMAN Homo sapiens calcium/calmodulin-dependent protein kinase ID (CAMK1D), transcript variant 2, mRNA. 75 Protein kinase. calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1) 16 GBM - Glioblastoma multiforme(1;3.16e-05) TTTTTTTCAGGATTAAGCATG 0.343000 211 159 0 0 0.014410 0 0 SDK1 221935 broad.mit.edu 37 7 4091411 4091412 + Missense_Mutation DNP CC TT TT TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr7:4091411_4091412CC>TT uc003smx.3 + 18 2999_3000 c.2860_2861CC>TT c.(2860-2862)cct>TTt p.P954F SDK1_uc010kso.3_Missense_Mutation_p.P230F NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA. 954 Fibronectin type-III 3. cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) CTTCACCACCCCTGGGGACGGG 0.525000 69 42 0 0 0.004672 0 0 HYDIN 54768 broad.mit.edu 37 16 71015379 71015379 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr16:71015379G>A uc002ezr.3 - 28 4573 c.4422C>T c.(4420-4422)atC>atT p.I1474I NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA. 1475 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) CCAGGTGGGCGATCTGTATCT 0.478000 61 32 0 0 0.011902 0 0 PCDHB7 56129 broad.mit.edu 37 5 140552480 140552480 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr5:140552480G>A uc003lit.3 + 0 238 c.64G>A c.(64-66)Gga>Aga p.G22R NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN Homo sapiens protocadherin beta 7 (PCDHB7), mRNA. 22 calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGTATTTCTGGGAATGTCTTG 0.483000 10 30 0 0 0.009535 0 0 FNDC3B 64778 broad.mit.edu 37 3 171965375 171965375 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:171965375C>T uc003fhy.3 + 4 489 c.317C>T c.(316-318)cCt>cTt p.P106L FNDC3B_uc003fhz.4_Missense_Mutation_p.P106L|FNDC3B_uc003fia.3_Missense_Mutation_p.P37L NM_022763 NP_073600 Q53EP0 FND3B_HUMAN Homo sapiens fibronectin type III domain containing 3B (FNDC3B), transcript variant 1, mRNA. 106 endoplasmic reticulum|integral to membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 69 all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GBM - Glioblastoma multiforme(1;0.0494) CCCCAGTCTCCTGAGTGTTAT 0.483000 70 68 0 0 0.014410 0 0 WDR36 134430 broad.mit.edu 37 5 110446899 110446899 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr5:110446899C>T uc003kpd.3 + 14 1923 c.1806C>T c.(1804-1806)ttC>ttT p.F602F WDR36_uc010jbu.3_Non-coding_Transcript NM_139281 NP_644810 Q8NI36 WDR36_HUMAN Homo sapiens WD repeat domain 36 (WDR36), mRNA. 602 rRNA processing|response to stimulus|visual perception small-subunit processome cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111) TGGATGACTTCTCCATTAGTG 0.378000 25 103 0 0 0.014410 0 0 KIF2B 84643 broad.mit.edu 37 17 51902255 51902255 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:51902255G>A uc002iua.2 + 0 2017 c.1861G>A c.(1861-1863)Gaa>Aaa p.E621K KIF2B_uc010wna.1_Non-coding_Transcript NM_032559 NP_115948 Q8N4N8 KIF2B_HUMAN Homo sapiens kinesin family member 2B (KIF2B), mRNA. 621 blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 CCAATGGCTGGAAAACATCCA 0.453000 49 40 0 0 0.009718 0 0 DPH1 1801 broad.mit.edu 37 17 1943100 1943100 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:1943100C>T uc010vqs.2 + 5 783 c.777C>T c.(775-777)ccC>ccT p.P259P DPH1_uc002fts.3_Silent_p.P249P|DPH1_uc002ftt.3_Silent_p.P233P|DPH1_uc010cjx.3_Silent_p.P109P|DPH1_uc002ftv.3_Silent_p.P5P|DPH1_uc002ftw.3_5'Flank|OVCA2_uc002ftx.3_5'Flank NM_001383 NP_001374 Q9BZG8 DPH1_HUMAN Homo sapiens DPH1 homolog (S. cerevisiae) (DPH1), mRNA. 249 peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation cytoplasm|nucleus endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 17 TTGCCAACCCCAATGTCCCCG 0.592000 77 57 0 0 0.014410 0 0 DHRS7C 201140 broad.mit.edu 37 17 9680581 9680581 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:9680581G>A uc010vvb.2 - 3 516 c.503C>T c.(502-504)tCc>tTc p.S168F DHRS7C_uc010cof.3_Missense_Mutation_p.S167F NM_001220493 NP_001207422 A6NNS2 DRS7C_HUMAN Homo sapiens dehydrogenase/reductase (SDR family) member 7C (DHRS7C), transcript variant 1, mRNA. 168 extracellular region binding|oxidoreductase activity NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9) 15 TGTTCTCCGGGAGATCATGTT 0.473000 13 8 0 0 0.004482 0 0 INSR 3643 broad.mit.edu 37 19 7267510 7267510 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:7267510G>A uc002mgd.1 - 1 607 c.498C>T c.(496-498)tcC>tcT p.S166S INSR_uc002mge.1_Silent_p.S166S|INSR_uc002mgf.3_Silent_p.S166S NM_000208 NP_000199 P06213 INSR_HUMAN Homo sapiens insulin receptor (INSR), transcript variant 1, mRNA. 166 G-protein coupled receptor protein signaling pathway|activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of MAPKKK cascade|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus caveola|endosome membrane|insulin receptor complex|microsome ATP binding|GTP binding|PTB domain binding|SH2 domain binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|receptor signaling protein tyrosine kinase activity breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2) 66 Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TATCCTCCACGGAATCCAGGA 0.532000 430 305 0 0 0.014410 0 0 ZCCHC5 203430 broad.mit.edu 37 X 77912524 77912524 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chrX:77912524G>A uc022bzi.1 - 0 1394 c.1394C>T c.(1393-1395)gCc>gTc p.A465V ZCCHC5_uc004edc.1_Missense_Mutation_p.A465V NM_152694 NP_689907 Q8N8U3 ZCHC5_HUMAN Homo sapiens zinc finger, CCHC domain containing 5 (ZCCHC5), mRNA. 465 nucleic acid binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1) 37 CGCCTGCAGGGCCTGATGAGG 0.542000 1 14 0 0 0.004007 0 0 VWA3B 200403 broad.mit.edu 37 2 98744845 98744845 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:98744845G>A uc002syo.3 + 5 1110 c.846G>A c.(844-846)aaG>aaA p.K282K VWA3B_uc010yvh.2_Silent_p.K132K|VWA3B_uc002syj.3_Non-coding_Transcript|VWA3B_uc002syk.1_Non-coding_Transcript|VWA3B_uc002syl.1_Intron|VWA3B_uc002sym.3_Silent_p.K282K|VWA3B_uc002syn.1_Non-coding_Transcript NM_144992 NP_659429 Q502W6 VWA3B_HUMAN Homo sapiens von Willebrand factor A domain containing 3B (VWA3B), mRNA. 282 NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 CTTTTCTAAAGGATCTGAGTG 0.527000 28 21 0 0 0.002780 0 0 DCC 1630 broad.mit.edu 37 18 51025821 51025821 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr18:51025821C>T uc002lfe.2 + 26 4668 c.4052C>T c.(4051-4053)cCt>cTt p.P1351L DCC_uc010dpf.2_Missense_Mutation_p.P984L NM_005215 NP_005206 P43146 DCC_HUMAN Homo sapiens deleted in colorectal carcinoma (DCC), mRNA. 1351 apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane p.L1350I(1) NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) CCTTTGCTACCTCCACCAATG 0.473000 55 42 0 0 0.014410 0 0 TMEM67 91147 broad.mit.edu 37 8 94794663 94794663 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr8:94794663C>T uc011lgk.2 + 10 1177 c.1106C>T c.(1105-1107)tCa>tTa p.S369L TMEM67_uc010mat.1_Missense_Mutation_p.S284L|TMEM67_uc010maw.2_Intron|TMEM67_uc003yga.4_Missense_Mutation_p.S288L NM_153704 NP_714915 Q5HYA8 MKS3_HUMAN Homo sapiens transmembrane protein 67 (TMEM67), transcript variant 1, mRNA. 369 ER-associated protein catabolic process|cilium assembly|negative regulation of centrosome duplication centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body unfolded protein binding breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1) 41 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.00896) GCTGCTTATTCATTTGGAACA 0.303000 23 24 0 0 0.005443 0 0 UNC79 57578 broad.mit.edu 37 14 94088518 94088518 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr14:94088518G>A uc001ybv.1 + 27 4557 c.4474G>A c.(4474-4476)Gaa>Aaa p.E1492K UNC79_uc001ybs.1_Missense_Mutation_p.E1470K NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA. 1647 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 CGAGAGTGACGAAGAAGAGGA 0.552000 43 37 0 0 0.003271 0 0 OR8K5 219453 broad.mit.edu 37 11 55927659 55927659 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:55927659C>T uc010rja.2 - 0 135 c.135G>A c.(133-135)atG>atA p.M45I NM_001004058 NP_001004058 Q8NH50 OR8K5_HUMAN Homo sapiens olfactory receptor, family 8, subfamily K, member 5 (OR8K5), mRNA. 45 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 34 Esophageal squamous(21;0.00693) Lung NSC(402;0.197)|all_epithelial(135;0.236) TCAAAATGATCATAGTTAGGT 0.428000 46 26 0 0 0.003330 0 0 SERPINB3 6317 broad.mit.edu 37 18 61324524 61324524 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr18:61324524C>T uc002lji.3 - 5 736 c.592G>A c.(592-594)Gaa>Aaa p.E198K SERPINB3_uc002ljg.3_Missense_Mutation_p.E198K|SERPINB3_uc010dqa.3_Missense_Mutation_p.E198K NM_006919 NP_008850 P29508 SPB3_HUMAN Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 3 (SERPINB3), mRNA. 198 regulation of proteolysis cytoplasm|extracellular region protein binding|serine-type endopeptidase inhibitor activity p.E197Q(1) breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 36 CAAAATTTTTCCTCTTTAGTA 0.294000 13 19 0 0 0.006122 0 0 MMP26 56547 broad.mit.edu 37 11 5012670 5012670 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:5012670G>A uc001lzv.3 + 3 557 c.539G>A c.(538-540)gGa>gAa p.G180E NM_021801 NP_068573 Q9NRE1 MMP26_HUMAN Homo sapiens matrix metallopeptidase 26 (MMP26), mRNA. 180 collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.G180E(2) breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1) 22 Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227) Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191) CCAAATTCTGGAAATCCTGGA 0.473000 105 61 0 0 0.014410 0 0 TMEM179 388021 broad.mit.edu 37 14 105061533 105061533 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr14:105061533G>A uc001yox.1 - 2 510 c.491C>T c.(490-492)tCc>tTc p.S164F NM_207379 NP_997262 Q6ZVK1 T179A_HUMAN Homo sapiens transmembrane protein 179 (TMEM179), mRNA. 164 integral to membrane p.S164C(2) endometrium(1)|lung(2)|skin(1) 4 all cancers(16;0.00276)|OV - Ovarian serous cystadenocarcinoma(23;0.0262)|Epithelial(46;0.058)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.129) GTAGAAGGCGGAGTTGTCCAC 0.582000 39 29 0 0 0.010818 0 0 CAND1 55832 broad.mit.edu 37 12 67691613 67691613 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:67691613C>T uc001stn.2 + 5 1271 c.834C>T c.(832-834)gcC>gcT p.A278A CAND1_uc001sto.2_5'Flank NM_018448 NP_060918 Q86VP6 CAND1_HUMAN Homo sapiens cullin-associated and neddylation-dissociated 1 (CAND1), mRNA. 278 cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|ubiquitin ligase complex protein binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1) 35 GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196) GBM - Glioblastoma multiforme(28;0.0279) GTATTCAAGCCTTTGAATCAT 0.303000 23 14 0 0 0.003163 0 0 FAM169B 283777 broad.mit.edu 37 15 98995102 98995102 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr15:98995102C>T uc002buk.1 - 4 572 c.322G>A c.(322-324)Gag>Aag p.E108K NM_182562 NP_872368 Q8N8A8 F169B_HUMAN Homo sapiens family with sequence similarity 169, member B (FAM169B), mRNA. 108 large_intestine(3)|lung(3)|urinary_tract(1) 7 CCCAGGGCCTCGTCCTCTGGG 0.557000 19 14 0 0 0.003163 0 0 RNASE9 390443 broad.mit.edu 37 14 21025022 21025022 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr14:21025022G>A uc010ahp.3 - 4 477 c.222C>T c.(220-222)gtC>gtT p.V74V RNASE9_uc010aho.3_Silent_p.V69V|RNASE9_uc001vxq.4_Silent_p.V74V|RNASE9_uc010ahq.3_Silent_p.V74V|RNASE9_uc010ahr.3_Silent_p.V74V|RNASE9_uc010ahs.3_Silent_p.V69V|RNASE9_uc010aht.3_Silent_p.V69V|RNASE9_uc010ahu.3_Silent_p.V69V|RNASE9_uc021rnt.1_Silent_p.V69V NM_001110359 NP_001103827 P60153 RNAS9_HUMAN Homo sapiens ribonuclease, RNase A family, 9 (non-active) (RNASE9), transcript variant 1, mRNA. 69 extracellular region nucleic acid binding|pancreatic ribonuclease activity haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|ovary(2)|urinary_tract(1) 8 all_cancers(95;0.00238) Epithelial(56;3.32e-06)|all cancers(55;2.46e-05) GBM - Glioblastoma multiforme(265;0.0141) GTTCAATAAGGACACGTCTTT 0.373000 69 43 0 0 0.011902 0 0 KIAA1468 57614 broad.mit.edu 37 18 59895792 59895792 + Missense_Mutation SNP T A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr18:59895792T>A uc002lil.3 + 7 1624 c.1409T>A c.(1408-1410)cTa>cAa p.L470Q KIAA1468_uc002lik.1_Missense_Mutation_p.L470Q|KIAA1468_uc010xel.2_Missense_Mutation_p.L470Q|KIAA1468_uc002lim.3_Missense_Mutation_p.L114Q NM_020854 NP_065905 Q9P260 K1468_HUMAN Homo sapiens KIAA1468 (KIAA1468), mRNA. 470 binding autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 47 Colorectal(73;0.186) CCTTCTTCTCTATCAAGTAAA 0.358000 16 13 0 0 0.001855 0 0 CTAGE10P 220429 broad.mit.edu 37 13 50466990 50466990 + Missense_Mutation SNP T C C rs144184696 by1000genomes TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr13:50466990T>C uc001vdk.2 + 0 2446 c.2264T>C c.(2263-2265)cTg>cCg p.L755P Homo sapiens CTAGE family, member 10, pseudogene (CTAGE10P), non-coding RNA. GTCTGTCCACTGAGGGGTTTT 0.517000 52 5 0 0 0.001984 0 0 RANBP10 57610 broad.mit.edu 37 16 67763685 67763685 + Silent SNP G T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr16:67763685G>T uc002eud.3 - 8 1161 c.1045C>A c.(1045-1047)Cga>Aga p.R349R RANBP10_uc010ceo.3_Silent_p.R120R|RANBP10_uc010vju.2_Silent_p.R293R|RANBP10_uc010vjv.2_Silent_p.R232R|RANBP10_uc010vjw.1_Silent_p.R10R NM_020850 NP_065901 Q6VN20 RBP10_HUMAN Homo sapiens RAN binding protein 10 (RANBP10), mRNA. 349 Ser-rich. endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1) 23 Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157) CTCAAACTTCGGACCTCACTG 0.602000 70 63 2.60599e-31 2.80737e-31 0.014410 1 0 ADAM2 2515 broad.mit.edu 37 8 39645760 39645760 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr8:39645760G>A uc003xnj.3 - 8 728 c.653C>T c.(652-654)tCa>tTa p.S218L ADAM2_uc003xnk.3_Missense_Mutation_p.S199L|ADAM2_uc011lck.2_Missense_Mutation_p.S218L|ADAM2_uc003xnl.3_Intron NM_001464 NP_001455 Q99965 ADAM2_HUMAN Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA. 218 Peptidase M12B. cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1) 53 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) AATATTAAATGAAACAAAAAT 0.239000 17 4 0 0 0.000602 0 0 CNKSR2 22866 broad.mit.edu 37 X 21627525 21627525 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chrX:21627525G>A uc004czx.2 + 19 2962 c.2482G>A c.(2482-2484)Gag>Aag p.E828K CNKSR2_uc004czw.3_Missense_Mutation_p.E828K|CNKSR2_uc011mjn.2_Missense_Mutation_p.E779K|CNKSR2_uc011mjo.2_Missense_Mutation_p.E798K|CNKSR2_uc004czy.3_Missense_Mutation_p.E420K NM_014927 NP_055742 Q8WXI2 CNKR2_HUMAN Homo sapiens connector enhancer of kinase suppressor of Ras 2 (CNKSR2), transcript variant 1, mRNA. 828 regulation of signal transduction cytoplasm|membrane protein binding breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3) 61 CCCCTTAGCTGAGAGTGAGAG 0.552000 2 38 0 0 0.008740 0 0 FKBP5 2289 broad.mit.edu 37 6 35558992 35558992 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:35558992C>T uc011dte.1 - 6 874 c.671G>A c.(670-672)gGt>gAt p.G224D FKBP5_uc003okx.2_Missense_Mutation_p.G224D|FKBP5_uc011dtf.1_Missense_Mutation_p.G45D|FKBP5_uc003oky.2_Missense_Mutation_p.G224D|FKBP5_uc003okz.2_Intron NM_001145776 NP_004108 Q13451 FKBP5_HUMAN Homo sapiens FK506 binding protein 5 (FKBP5), transcript variant 3, mRNA. 224 PPIase FKBP-type 2. protein folding cytoplasm|membrane|nucleus FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2) 17 CTCTCCAAAACCATATCTGAA 0.363000 4 67 0 0 0.014410 0 0 SCN2A 6326 broad.mit.edu 37 2 166201069 166201069 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:166201069G>A uc002udc.3 + 15 2857 c.2567G>A c.(2566-2568)cGa>cAa p.R856Q SCN2A_uc002udd.3_Missense_Mutation_p.R856Q|SCN2A_uc002ude.3_Missense_Mutation_p.R856Q NM_001040142 NP_066287 Q99250 SCN2A_HUMAN Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA. 856 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) TTCCAGCTCCGAGTTTTCAAG 0.318000 20 18 0 0 0.004990 0 0 NMBR 4829 broad.mit.edu 37 6 142409773 142409773 + Missense_Mutation SNP T C C TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:142409773T>C uc003qiu.3 - 0 164 c.23A>G c.(22-24)aAc>aGc p.N8S NM_002511 NP_002502 P28336 NMBR_HUMAN Homo sapiens neuromedin B receptor (NMBR), mRNA. 8 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger cytoplasm|integral to plasma membrane bombesin receptor activity breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 Breast(32;0.155) OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013) CACCGAGAGGTTGGAAAGAGA 0.607000 26 15 0 0 0.004007 0 0 LOC341056 341056 broad.mit.edu 37 11 122889045 122889045 + RNA SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:122889045G>A uc010rzt.2 + 0 c.772G>A Homo sapiens SUMO1 activating enzyme subunit 1 pseudogene (LOC341056), non-coding RNA. AGGCTGCTCTGAAGCGCACGA 0.507000 17 10 0 0 0.001855 0 0 NIT2 56954 broad.mit.edu 37 3 100073618 100073618 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:100073618G>A uc003dtv.3 + 8 760 c.686G>A c.(685-687)gGg>gAg p.G229E NM_020202 NP_064587 Q9NQR4 NIT2_HUMAN Homo sapiens nitrilase family, member 2 (NIT2), mRNA. 229 CN hydrolase. nitrogen compound metabolic process omega-amidase activity breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1) 17 TTTTTCAGGGGGGAGGTTCTA 0.453000 29 26 0 0 0.004656 0 0 TYW5 129450 broad.mit.edu 37 2 200800763 200800763 + Silent SNP T C C TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:200800763T>C uc002uvi.4 - 6 848 c.582A>G c.(580-582)aaA>aaG p.K194K TYW5_uc002uvj.4_Silent_p.K31K|TYW5_uc002uvk.4_Non-coding_Transcript|TYW5_uc010fss.3_Silent_p.K31K NM_001039693 NP_001034782 A2RUC4 TYW5_HUMAN Homo sapiens tRNA-yW synthesizing protein 5 (TYW5), transcript variant 1, mRNA. 194 JmjC. wybutosine biosynthetic process iron ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein homodimerization activity|tRNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(1) 8 GTACTTCTGATTTAGTACCTA 0.284000 49 41 0 0 0.014410 0 0 FBXW10 10517 broad.mit.edu 37 17 18654336 18654336 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:18654336G>A uc002gul.3 + 3 1411 c.1179G>A c.(1177-1179)gtG>gtA p.V393V FBXW10_uc002guj.3_Silent_p.V364V|FBXW10_uc002guk.3_Silent_p.V364V|FBXW10_uc010cqh.2_Silent_p.V364V NM_031456 NP_113644 Q5XX13 FBW10_HUMAN Homo sapiens F-box and WD repeat domain containing 10 (FBXW10), mRNA. 364 NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 42 GCATGCGTGTGAAACATCCGA 0.463000 106 62 0 0 0.014410 0 0 ZNF385C 201181 broad.mit.edu 37 17 40178933 40178933 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:40178933G>A uc021txr.1 - 7 1257 c.1257C>T c.(1255-1257)atC>atT p.I419I NM_001242704 NP_001229633 Homo sapiens zinc finger protein 385C (ZNF385C), mRNA. lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 3 all_cancers(22;0.00127)|Breast(137;0.00104)|all_epithelial(22;0.0126) GGGCAAGGACGATAGGTCCTG 0.602000 10 7 0 0 0.001984 0 0 ALPK1 80216 broad.mit.edu 37 4 113352004 113352004 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr4:113352004C>T uc003ian.4 + 10 1528 c.1301C>T c.(1300-1302)cCc>cTc p.P434L ALPK1_uc003iap.4_Missense_Mutation_p.P434L|ALPK1_uc011cfx.2_Missense_Mutation_p.P356L|ALPK1_uc003iao.4_Intron|ALPK1_uc010imo.3_Missense_Mutation_p.P262L NM_001102406 NP_079420 Q96QP1 ALPK1_HUMAN Homo sapiens alpha-kinase 1 (ALPK1), transcript variant 2, mRNA. 434 ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1) 53 Ovarian(17;0.0446)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00325) TCTTATGTTCCCGAGAGTTTC 0.423000 29 32 0 0 0.009535 0 0 RELN 5649 broad.mit.edu 37 7 103197509 103197509 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr7:103197509C>T uc022ajr.1 - 37 5872 c.5712G>A c.(5710-5712)acG>acA p.T1904T RELN_uc022ajq.1_Silent_p.T1904T|RELN_uc010liz.3_Silent_p.T1904T NM_005045 NP_005036 P78509 RELN_HUMAN Homo sapiens reelin (RELN), transcript variant 1, mRNA. 1904 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) AAAGTATATTCGTTGTTTGAG 0.403000 35 26 0 0 0.003954 0 0 ZFC3H1 196441 broad.mit.edu 37 12 72017247 72017247 + Missense_Mutation SNP G C C TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:72017247G>C uc001swo.2 - 23 4996 c.4637C>G c.(4636-4638)tCt>tGt p.S1546C NM_144982 NP_659419 O60293 ZC3H1_HUMAN Homo sapiens zinc finger, C3H1-type containing (ZFC3H1), mRNA. 1546 RNA processing intracellular metal ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 ATTATCATTAGATGGATCATA 0.353000 28 14 0 0 0.003163 0 0 KRT9 3857 broad.mit.edu 37 17 39728108 39728108 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:39728108C>T uc002hxe.4 - 0 203 c.137G>A c.(136-138)cGa>cAa p.R46Q JUP_uc010wfs.2_Intron NM_000226 NP_000217 P35527 K1C9_HUMAN Homo sapiens keratin 9 (KRT9), mRNA. 46 Head. intermediate filament organization|skin development protein binding|structural constituent of cytoskeleton p.R46L(2) autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 Breast(137;0.000307) AGAGCTGAATCGGCCCCCTCC 0.682000 5 4 0 0 0.009096 0 0 C9orf86 55684 broad.mit.edu 37 9 139722973 139722973 + Nonsense_Mutation SNP T G G TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr9:139722973T>G uc004cjj.1 + 3 798 c.341T>G c.(340-342)tTa>tGa p.L114* C9orf86_uc004cjm.2_Nonsense_Mutation_p.L114*|C9orf86_uc004cjh.3_Nonsense_Mutation_p.L114*|C9orf86_uc004cji.1_Nonsense_Mutation_p.L114*|C9orf86_uc004cjk.1_Non-coding_Transcript|C9orf86_uc004cjl.1_Non-coding_Transcript|C9orf86_uc010nbs.1_5'UTR|MIR4292_uc022bpu.1_5'Flank NM_001173988 NP_001167459 Q3YEC7 PARF_HUMAN Homo sapiens chromosome 9 open reading frame 86 (C9orf86), transcript variant 3, mRNA. 114 Small GTPase-like. small GTPase mediated signal transduction cytoplasm|nucleus GTP binding|protein binding endometrium(4)|kidney(1)|lung(4) 9 all_cancers(76;0.0763)|all_epithelial(76;0.198) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.61e-05)|Epithelial(140;0.000183) GGCGACGGCTTAAAGATGGAG 0.572000 24 19 0 0 0.012319 0 0 PPYR1 5540 broad.mit.edu 37 10 47087158 47087158 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr10:47087158G>A uc001jee.3 + 2 794 c.375G>A c.(373-375)gtG>gtA p.V125V ANXA8L1_uc001jed.4_Intron|PPYR1_uc009xna.3_Silent_p.V125V|PPYR1_uc021ppu.1_Silent_p.V125V NM_005972 NP_005963 P50391 NPY4R_HUMAN Homo sapiens pancreatic polypeptide receptor 1 (PPYR1), mRNA. 125 blood circulation|digestion|feeding behavior integral to plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 GCATGTCGGTGACGGTCTCCA 0.592000 272 40 0 0 0.013114 0 0 OR8S1 341568 broad.mit.edu 37 12 48920048 48920048 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:48920048C>T uc010slu.2 + 0 634 c.634C>T c.(634-636)Ctt>Ttt p.L212F NM_001005203 NP_001005203 Q8NH09 OR8S1_HUMAN Homo sapiens olfactory receptor, family 8, subfamily S, member 1 (OR8S1), mRNA. 212 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F211F(2) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4) 22 GGGAAACTTCCTTTTGGTCTT 0.532000 38 21 0 0 0.012319 0 0 FBXL4 26235 broad.mit.edu 37 6 99374369 99374370 + Missense_Mutation DNP GA AG AG TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:99374369_99374370GA>AG uc003ppf.1 - 2 853_854 c.495_496TC>CT c.(493-498)aatcca>aaCTca p.P166S FBXL4_uc003ppg.1_Missense_Mutation_p.P166S|FBXL4_uc003pph.1_5'UTR NM_012160 NP_036292 Q9UKA2 FBXL4_HUMAN Homo sapiens F-box and leucine-rich repeat protein 4 (FBXL4), mRNA. 166 ubiquitin-dependent protein catabolic process cytoplasm|nucleus|ubiquitin ligase complex central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2) 18 all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197) BRCA - Breast invasive adenocarcinoma(108;0.0413) TCAGCTGGTGGATTTGGGGAAT 0.366000 42 19 0 0 0.004672 0 0 FAT4 79633 broad.mit.edu 37 4 126241707 126241707 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr4:126241707G>A uc003ifj.4 + 0 4141 c.4141G>A c.(4141-4143)Gaa>Aaa p.E1381K NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA. 1381 Cadherin 13. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 ACTGGACTTTGAAACACAGTC 0.368000 82 34 0 0 0.013726 0 0 GPRC6A 222545 broad.mit.edu 37 6 117127855 117127855 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:117127855G>A uc003pxj.1 - 2 1035 c.1013C>T c.(1012-1014)tCc>tTc p.S338F GPRC6A_uc003pxk.1_Intron|GPRC6A_uc003pxl.1_Missense_Mutation_p.S338F NM_148963 NP_683766 Q5T6X5 GPC6A_HUMAN Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA. 338 response to amino acid stimulus G-protein coupled receptor activity autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3) 65 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) TTGAAGAAAGGAATGGAAAGA 0.408000 36 26 0 0 0.003954 0 0 SUOX 6821 broad.mit.edu 37 12 56397533 56397533 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:56397533G>A uc001six.3 + 5 686 c.360G>A c.(358-360)ggG>ggA p.G120G SUOX_uc001siy.3_Silent_p.G120G|SUOX_uc001siz.3_Silent_p.G120G|SUOX_uc001sja.3_Silent_p.G120G NM_000456 NP_001027559 P51687 SUOX_HUMAN Homo sapiens sulfite oxidase (SUOX), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 120 Cytochrome b5 heme-binding. mitochondrial intermembrane space electron carrier activity|molybdenum ion binding|sulfite oxidase activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6) 15 UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119) TACATCCAGGGGGGCCTTCAA 0.567000 60 47 0 0 0.014410 0 0 INO80 54617 broad.mit.edu 37 15 41372096 41372096 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr15:41372096G>A uc001zni.3 - 8 1147 c.934C>T c.(934-936)Cac>Tac p.H312Y INO80_uc010ucu.2_Non-coding_Transcript NM_017553 NP_060023 Q9ULG1 INO80_HUMAN Homo sapiens INO80 homolog (S. cerevisiae) (INO80), mRNA. 312 Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1.|DBINO. UV-damage excision repair|cell division|cellular response to UV|cellular response to ionizing radiation|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of DNA replication involved in S phase|positive regulation of cell growth|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly Ino80 complex|microtubule ATP binding|ATPase activity|DNA binding|DNA helicase activity|actin binding|alpha-tubulin binding NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 ATGCACTGGTGAGCAAGCTGA 0.527000 89 57 0 0 0.014410 0 0 ADAM11 4185 broad.mit.edu 37 17 42849142 42849142 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:42849142G>A uc002ihh.3 + 5 486 c.486G>A c.(484-486)ggG>ggA p.G162G ADAM11_uc010wjd.2_5'UTR NM_002390 NP_002381 O75078 ADA11_HUMAN Homo sapiens ADAM metallopeptidase domain 11 (ADAM11), mRNA. 162 integrin-mediated signaling pathway|proteolysis integral to membrane|plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 Prostate(33;0.0959) TCTCTGATGGGAACTTGACTT 0.652000 33 25 0 0 0.004656 0 0 SPATA17 128153 broad.mit.edu 37 1 217975134 217975134 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:217975134C>T uc001hlh.1 + 8 973 c.947C>T c.(946-948)cCt>cTt p.P316L NM_138796 NP_620151 Q96L03 SPT17_HUMAN Homo sapiens spermatogenesis associated 17 (SPATA17), mRNA. 316 cytoplasm calmodulin binding endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117) AAGTATGGTCCTATTTCTTAC 0.294000 13 12 0 0 0.003163 0 0 ZC4H2 55906 broad.mit.edu 37 X 64139046 64139046 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chrX:64139046G>A uc004dvu.3 - 3 593 c.437C>T c.(436-438)cCt>cTt p.P146L ZC4H2_uc004dvv.3_Missense_Mutation_p.P123L|ZC4H2_uc022byd.1_Missense_Mutation_p.P123L|ZC4H2_uc022byc.1_Missense_Mutation_p.P123L|ZC4H2_uc011mow.2_Intron|ZC4H2_uc011mov.2_Missense_Mutation_p.P123L|ZC4H2_uc004dvw.2_3'UTR NM_018684 NP_001230733 Q9NQZ6 ZC4H2_HUMAN Homo sapiens zinc finger, C4H2 domain containing (ZC4H2), transcript variant 1, mRNA. 146 metal ion binding|protein binding endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 GGGCTCCTGAGGTTCTGTCTG 0.552000 3 24 0 0 0.007291 0 0 DYNC2H1 79659 broad.mit.edu 37 11 103057112 103057112 + Missense_Mutation SNP A C C TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:103057112A>C uc001phn.1 + 41 6919 c.6775A>C c.(6775-6777)Act>Cct p.T2259P DYNC2H1_uc009yxe.1_Intron|DYNC2H1_uc001pho.2_Missense_Mutation_p.T2259P NM_001080463 NP_001073932 Q8NCM8 DYHC2_HUMAN Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA. 2259 AAA 3 (By similarity). Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) TAACGGCTTAACTCTTCCAGT 0.418000 26 31 0 0 0.012213 0 0 MYOM1 8736 broad.mit.edu 37 18 3090697 3090697 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr18:3090697C>T uc002klp.3 - 26 4302 c.3968G>A c.(3967-3969)gGa>gAa p.G1323E MYOM1_uc002klq.3_Missense_Mutation_p.G1227E NM_003803 NP_003794 P52179 MYOM1_HUMAN Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA. 1323 striated muscle myosin thick filament structural constituent of muscle p.D1322H(1) NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 AGTTGCTTTTCCATCTTGAAG 0.418000 51 45 0 0 0.014410 0 0 FAT3 120114 broad.mit.edu 37 11 92599969 92599969 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:92599969C>T uc001pdj.4 + 20 11738 c.11721C>T c.(11719-11721)atC>atT p.I3907I FAT3_uc001pdi.4_Silent_p.I347I NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA. 3907 Laminin G-like. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TCTTGGGCATCTCGGGCCGTG 0.602000 TCGA Ovarian(4;0.039) 230 174 0 0 0.014410 0 0 ATP2A2 488 broad.mit.edu 37 12 110719708 110719708 + Silent SNP C A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:110719708C>A uc001tqk.4 + 0 677 c.114C>A c.(112-114)tcC>tcA p.S38S ATP2A2_uc001tql.4_Silent_p.S38S|JA611269_uc021rds.1_Non-coding_Transcript NM_170665 NP_733765 P16615 AT2A2_HUMAN Homo sapiens ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 (ATP2A2), transcript variant b, mRNA. 38 ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|S100 alpha binding|calcium-transporting ATPase activity|protein C-terminus binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 38 GATGGGGCTCCAACGGTAGGT 0.677000 11 7 8.12818e-05 8.49831e-05 0.001984 1 0 DPF1 8193 broad.mit.edu 37 19 38709272 38709273 + Missense_Mutation DNP GG AA AA TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:38709272_38709273GG>AA uc021uty.1 - 4 564_565 c.537_538CC>TT c.(535-540)gacctc>gaTTtc p.L180F DPF1_uc002ohm.3_Missense_Mutation_p.L180F|DPF1_uc002ohl.3_Missense_Mutation_p.L180F|DPF1_uc002ohn.3_Missense_Mutation_p.L98F|DPF1_uc010xtw.1_Missense_Mutation_p.L154F NM_001135155 NP_001128627 Q92782 DPF1_HUMAN Homo sapiens D4, zinc and double PHD fingers family 1 (DPF1), transcript variant 1, mRNA. 180 induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nBAF complex zinc ion binding large_intestine(1)|lung(4)|ovary(1)|skin(1) 7 all_cancers(60;1.24e-06) Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) TCCACCTCGAGGTCATGCGGAA 0.554000 32 26 0 0 0.004672 0 0 PTCHD4 442213 broad.mit.edu 37 6 47976640 47976640 + Nonsense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:47976640G>A uc011dwm.2 - 1 671 c.637C>T c.(637-639)Cag>Tag p.Q213* PTCHD4_uc011dwn.2_5'UTR|PTCHD4_uc003ozf.2_Nonsense_Mutation_p.Q213* NM_001013732 NP_001013754 Q6ZW05 CF138_HUMAN Homo sapiens chromosome 6 open reading frame 138 (C6orf138), transcript variant 1, mRNA. 213 integral to membrane hedgehog receptor activity GAGTAGAGCTGGAGTTCTTGA 0.522000 31 20 0 0 0.010504 0 0 NINL 22981 broad.mit.edu 37 20 25481560 25481560 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr20:25481560G>A uc002wux.1 - 7 1022 c.948C>T c.(946-948)gaC>gaT p.D316D NINL_uc010gdn.1_Silent_p.D316D|NINL_uc010gdo.1_Intron|NINL_uc010ztf.1_Silent_p.D332D NM_025176 NP_079452 Q9Y2I6 NINL_HUMAN Homo sapiens ninein-like (NINL), mRNA. 316 G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 CAGAACCATCGTCAATGCTGG 0.582000 28 23 0 0 0.014323 0 0 STK38L 23012 broad.mit.edu 37 12 27475360 27475360 + Missense_Mutation SNP C A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:27475360C>A uc001rhr.3 + 13 1566 c.1367C>A c.(1366-1368)cCc>cAc p.P456H STK38L_uc010sjm.2_Missense_Mutation_p.P363H|STK38L_uc010sjn.2_Missense_Mutation_p.P194H|STK38L_uc010sjo.2_Missense_Mutation_p.P121H NM_015000 NP_055815 Q9Y2H1 ST38L_HUMAN Homo sapiens serine/threonine kinase 38 like (STK38L), mRNA. 456 intracellular protein kinase cascade|regulation of cellular component organization actin cytoskeleton|cytoplasm ATP binding|actin binding|magnesium ion binding|protein serine/threonine kinase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1) 12 Colorectal(261;0.0847) GGCTCTATCCCCACCTACATG 0.433000 98 49 2.47907e-22 2.65598e-22 0.014410 1 0 KRTAP5-8 57830 broad.mit.edu 37 11 71249145 71249145 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:71249145G>A uc001oqr.1 + 0 75 c.44G>A c.(43-45)gGg>gAg p.G15E NM_021046 NP_066384 O75690 KRA58_HUMAN Homo sapiens keratin associated protein 5-8 (KRTAP5-8), mRNA. 15 extracellular region|keratin filament structural constituent of epidermis p.C14Y(1) cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1) 6 TCCGGCTGTGGGGGCTGCGGC 0.652000 82 73 0 0 0.014410 0 0 TECTA 7007 broad.mit.edu 37 11 121023770 121023770 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:121023770C>T uc010rzo.2 + 11 4286 c.4286C>T c.(4285-4287)tCc>tTc p.S1429F NM_005422 NP_005413 O75443 TECTA_HUMAN Homo sapiens tectorin alpha (TECTA), mRNA. 1429 cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix p.S1429S(1) TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) GGCTGCTACTCCGATGGCAAA 0.572000 18 9 0 0 0.004482 0 0 CD5L 922 broad.mit.edu 37 1 157803038 157803038 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:157803038C>T uc001frk.4 - 4 1126 c.983G>A c.(982-984)aGa>aAa p.R328K NM_005894 NP_005885 O43866 CD5L_HUMAN Homo sapiens CD5 molecule-like (CD5L), mRNA. 328 SRCR 3. apoptosis|cellular defense response extracellular space|membrane scavenger receptor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 52 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) CCCCCAAAATCTGTGCTGGCA 0.562000 44 50 0 0 0.014410 0 0 LOC650368 650368 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:3427845C>T uc010qxs.1 + 8 c.838C>T LOC650368_uc001lxy.2_Non-coding_Transcript Homo sapiens asparagine-linked glycosylation 1-like pseudogene (LOC650368), non-coding RNA. CTTCAAGTGGCAGGAGCAGAA 0.587000 31 5 0 0 0.000602 0 0 KCNN2 3781 broad.mit.edu 37 5 113740319 113740319 + Missense_Mutation SNP T A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr5:113740319T>A uc003kqo.3 + 2 1224 c.767T>A c.(766-768)aTt>aAt p.I256N NM_021614 NP_067627 Q9H2S1 KCNN2_HUMAN Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2 (KCNN2), transcript variant 1, mRNA. 256 integral to membrane calmodulin binding|small conductance calcium-activated potassium channel activity breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206) OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195) GATGTGGATATTATTTTATCT 0.438000 6 40 0 0 0.006999 0 0 SLCO1A2 6579 broad.mit.edu 37 12 21457408 21457408 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:21457408G>A uc001rer.3 - 4 793 c.542C>T c.(541-543)tCc>tTc p.S181F SLCO1A2_uc010siq.2_Missense_Mutation_p.S49F|SLCO1A2_uc001res.3_Missense_Mutation_p.S181F|SLCO1A2_uc010sio.2_Missense_Mutation_p.S49F|SLCO1A2_uc010sip.2_Missense_Mutation_p.S49F|SLCO1A2_uc001ret.3_Missense_Mutation_p.S179F|SLCO1A2_uc001reu.2_Missense_Mutation_p.S161F NM_021094 NP_602307 P46721 SO1A2_HUMAN Homo sapiens solute carrier organic anion transporter family, member 1A2 (SLCO1A2), transcript variant 2, mRNA. 181 bile acid metabolic process|sodium-independent organic anion transport integral to membrane|plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity p.S181F(2) breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1) 48 TTCTATATAGGAAATACCCAA 0.373000 22 23 0 0 0.012319 0 0 KLF7 8609 broad.mit.edu 37 2 208030259 208030260 + Missense_Mutation DNP CC TT TT TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:208030259_208030260CC>TT uc002vbz.1 - 0 355_356 c.33_34GG>AA c.(31-36)caggag>caAAag p.E12K KLF7_uc002vca.1_Missense_Mutation_p.E12K NM_003709 NP_003700 O75840 KLF7_HUMAN Homo sapiens Kruppel-like factor 7 (ubiquitous) (KLF7), mRNA. 12 regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|large_intestine(3)|liver(1)|lung(4)|skin(1) 11 LUSC - Lung squamous cell carcinoma(261;0.0856)|Lung(261;0.166)|Epithelial(149;0.173) AGTTGTAGCTCCTGGAATATAC 0.510000 73 49 0 0 0.004672 0 0 OR10H2 26538 broad.mit.edu 37 19 15839113 15839113 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:15839113C>T uc002nbm.2 + 0 280 c.260C>T c.(259-261)tCc>tTc p.S87F NM_013939 NP_039227 O60403 O10H2_HUMAN Homo sapiens olfactory receptor, family 10, subfamily H, member 2 (OR10H2), mRNA. 87 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1) 27 all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074) GACCTGCTGTCCACCCAGCGC 0.612000 36 16 0 0 0.008871 0 0 TLN2 83660 broad.mit.edu 37 15 63127947 63127947 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr15:63127947C>T uc002alb.4 + 52 7140 c.7140C>T c.(7138-7140)atC>atT p.I2380I TLN2_uc002alc.4_Silent_p.I773I|TLN2_uc010uic.2_5'UTR|AK125516_uc002ale.1_5'Flank NM_015059 NP_055874 Q9Y4G6 TLN2_HUMAN Homo sapiens talin 2 (TLN2), mRNA. 2380 I/LWEQ. cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5) 99 TGGGCTCCATCCCTGCCAATG 0.597000 99 59 0 0 0.014410 0 0 TPTE2 93492 broad.mit.edu 37 13 20038604 20038604 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr13:20038604G>A uc001umd.3 - 10 944 c.733C>T c.(733-735)Cca>Tca p.P245S TPTE2_uc009zzk.3_Non-coding_Transcript|TPTE2_uc009zzl.3_Missense_Mutation_p.P134S|TPTE2_uc001ume.3_Missense_Mutation_p.P168S|TPTE2_uc009zzm.3_5'UTR|TPTE2_uc010tcm.2_Non-coding_Transcript NM_199254 NP_954863 Q6XPS3 TPTE2_HUMAN Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA. 245 Phosphatase tensin-type. endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) ACCTCAATTGGATTTCTATAG 0.323000 18 27 0 0 0.010818 0 0 SLC6A1 6529 broad.mit.edu 37 3 11067167 11067167 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:11067167C>T uc010hdq.3 + 7 1158 c.747C>T c.(745-747)atC>atT p.I249I NM_003042 NP_003033 P30531 SC6A1_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 1 (SLC6A1), mRNA. 249 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 26 Ovarian(110;0.0392) OV - Ovarian serous cystadenocarcinoma(96;0.00099) Cocaine(DB00907)|Tiagabine(DB00906) ACCCCTACATCATGCTGATCA 0.572000 27 19 0 0 0.012319 0 0 KITLG 4254 broad.mit.edu 37 12 88912537 88912537 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:88912537G>A uc001tav.3 - 3 495 c.300C>T c.(298-300)atC>atT p.I100I KITLG_uc009zsn.3_Silent_p.I28I|KITLG_uc001taw.3_Silent_p.I100I|KITLG_uc009zso.1_Intron NM_000899 NP_000890 P21583 SCF_HUMAN Homo sapiens KIT ligand (KITLG), transcript variant b, mRNA. 100 cell adhesion|cell proliferation|hemopoiesis|male gonad development|positive regulation of DNA replication|signal transduction cytoplasm|cytoskeleton|integral to membrane|plasma membrane growth factor activity|identical protein binding|stem cell factor receptor binding kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1) 9 GTTTGTCTATGATGGAATAAT 0.363000 Testicular Cancer, Familial Clustering of 34 24 0 0 0.004656 0 0 F11 2160 broad.mit.edu 37 4 187205274 187205274 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr4:187205274C>T uc003iza.1 + 10 1497 c.1164C>T c.(1162-1164)atC>atT p.I388I NM_000128 NP_000119 P03951 FA11_HUMAN Homo sapiens coagulation factor XI (F11), mRNA. 388 Peptidase S1. blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis extracellular space|plasma membrane heparin binding|serine-type endopeptidase activity NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 32 all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176) Coagulation Factor IX(DB00100) AGCCCAGGATCGTTGGAGGAA 0.517000 42 46 0 0 0.014410 0 0 PIK3R6 146850 broad.mit.edu 37 17 8726803 8726803 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:8726803C>T uc002glq.1 - 13 1767 c.1527G>A c.(1525-1527)ctG>ctA p.L509L PIK3R6_uc002glr.1_Non-coding_Transcript|PIK3R6_uc002gls.1_Non-coding_Transcript NM_001010855 NP_001010855 Q5UE93 PI3R6_HUMAN Homo sapiens phosphoinositide-3-kinase, regulatory subunit 6 (PIK3R6), mRNA. 509 platelet activation cytosol GGGATGTGTCCAGGGAAGGAG 0.532000 9 6 0 0 0.001168 0 0 GON4L 54856 broad.mit.edu 37 1 155742989 155742989 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:155742989G>A uc001flz.2 - 17 2460 c.2363C>T c.(2362-2364)cCc>cTc p.P788L GON4L_uc021paz.1_Intron|GON4L_uc001fly.1_Missense_Mutation_p.P788L|GON4L_uc009wrh.1_Missense_Mutation_p.P788L|GON4L_uc001fma.1_Missense_Mutation_p.P788L|GON4L_uc001fmb.4_5'UTR|GON4L_uc001fmc.3_Missense_Mutation_p.P788L|GON4L_uc001fmd.4_Missense_Mutation_p.P788L|GON4L_uc009wri.3_Missense_Mutation_p.P374L NM_001037533 NP_001032622 Q3T8J9 GON4L_HUMAN Homo sapiens gon-4-like (C. elegans) (GON4L), transcript variant 1, mRNA. 788 regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 45 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) TGGCAAACAGGGAAATTCATT 0.408000 30 17 0 0 0.006122 0 0 COL27A1 85301 broad.mit.edu 37 9 117072929 117072929 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr9:117072929C>T uc011lxl.2 + 60 5537 c.5537C>T c.(5536-5538)tCa>tTa p.S1846L COL27A1_uc004bii.3_Non-coding_Transcript|COL27A1_uc011lxn.2_Missense_Mutation_p.S161L NM_032888 NP_116277 Q8IZC6 CORA1_HUMAN Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA. 1846 Fibrillar collagen NC1. cell adhesion extracellular matrix structural constituent central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3) 80 CCTGCCTCATCAGGGAAGCAG 0.602000 42 35 0 0 0.003755 0 0 ITIH6 347365 broad.mit.edu 37 X 54783453 54783453 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chrX:54783453G>A uc004dtj.2 - 7 3084 c.3054C>T c.(3052-3054)ttC>ttT p.F1018F NM_198510 NP_940912 Q6UXX5 ITH5L_HUMAN Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 6 (ITIH6), mRNA. 1018 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity AGGACTCCACGAACTTGGATT 0.522000 1 13 0 0 0.003163 0 0 C1orf131 128061 broad.mit.edu 37 1 231362502 231362503 + Missense_Mutation DNP CC TT TT TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:231362502_231362503CC>TT uc001hul.3 - 4 712_713 c.675_676GG>AA c.(673-678)aaggaa>aaAAaa p.E226K C1orf131_uc001hum.3_Missense_Mutation_p.E225K|C1orf131_uc001hun.1_Missense_Mutation_p.E226K|C1orf131_uc010pwd.1_Missense_Mutation_p.E225K NM_152379 NP_689592 Q8NDD1 CA131_HUMAN Homo sapiens chromosome 1 open reading frame 131 (C1orf131), mRNA. 226 Lys-rich. breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1) 8 Breast(184;0.0871) all_cancers(173;0.2)|Prostate(94;0.183) TTTTCTTCTTCCTTTGCTGCCT 0.406000 54 30 0 0 0.004672 0 0 CCDC11 220136 broad.mit.edu 37 18 47769285 47769285 + Nonsense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr18:47769285G>A uc002lee.2 - 5 1289 c.1198C>T c.(1198-1200)Caa>Taa p.Q400* NM_145020 NP_659457 Q96M91 CCD11_HUMAN Homo sapiens coiled-coil domain containing 11 (CCDC11), mRNA. 400 endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1) 20 STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164) TCTTGAACTTGAAGTTTTCTT 0.368000 69 59 0 0 0.014410 0 0 POLA2 23649 broad.mit.edu 37 11 65046214 65046214 + Nonsense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:65046214C>T uc001odj.3 + 5 807 c.475C>T c.(475-477)Cag>Tag p.Q159* POLA2_uc009yqf.1_Nonsense_Mutation_p.Q159*|POLA2_uc010rod.1_5'UTR|POLA2_uc001odk.3_5'Flank NM_002689 NP_002680 Q14181 DPOA2_HUMAN Homo sapiens polymerase (DNA directed), alpha 2 (70kD subunit) (POLA2), mRNA. 159 DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication nucleoplasm DNA binding endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1) 11 Dacarbazine(DB00851) TACTCCCTCCCAGAAATACAA 0.443000 74 63 0 0 0.014410 0 0 C19orf21 126353 broad.mit.edu 37 19 757502 757502 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:757502G>A uc002lpo.3 + 1 639 c.556G>A c.(556-558)Gtt>Att p.V186I NM_173481 NP_775752 Q8IVT2 CS021_HUMAN Homo sapiens chromosome 19 open reading frame 21 (C19orf21), mRNA. 186 breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|Breast(49;0.0014) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGAGAACGTGGTTGACAGGGA 0.672000 15 11 0 0 0.008291 0 0 C1orf106 55765 broad.mit.edu 37 1 200868693 200868693 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:200868693G>A uc001gvo.3 + 2 445 c.403G>A c.(403-405)Gag>Aag p.E135K C1orf106_uc010ppm.2_Missense_Mutation_p.E50K NM_018265 NP_001136041 Q3KP66 CA106_HUMAN Homo sapiens chromosome 1 open reading frame 106 (C1orf106), transcript variant 1, mRNA. 135 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2) 21 GGCCTGCCTGGAGGAGCTGAG 0.647000 8 7 0 0 0.003080 0 0 MIR197 406974 broad.mit.edu 37 1 110141570 110141570 + RNA SNP C A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:110141570C>A uc010ovq.1 + 0 c.56C>A Homo sapiens microRNA 197 (MIR197), microRNA. CCTTCACCACCTTCTCCACCC 0.567000 47 33 8.4185e-14 8.94561e-14 0.012213 1 0 OR7E5P 219445 broad.mit.edu 37 11 55747404 55747404 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:55747404G>A uc010riu.1 - 3 608 c.53C>T c.(52-54)tCt>tTt p.S18F Homo sapiens olfactory receptor, family 7, subfamily E, member 5 pseudogene (OR7E5P), non-coding RNA. breast(1)|kidney(1)|lung(5) 7 GTGGGAGTCAGAGCCGATGGC 0.582000 14 11 0 0 0.010729 0 0 SLITRK1 114798 broad.mit.edu 37 13 84455537 84455537 + Missense_Mutation SNP C A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr13:84455537C>A uc001vlk.3 - 0 992 c.106G>T c.(106-108)Ggg>Tgg p.G36W NM_052910 NP_443142 Q96PX8 SLIK1_HUMAN Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA. 36 LRRNT. integral to membrane NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 80 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) TGTAGGTCCCCTTCTATCTCA 0.468000 40 31 5.91797e-21 6.32871e-21 0.012213 1 0 GLB1L 79411 broad.mit.edu 37 2 220104815 220104816 + Splice_Site DNP AC TT TT TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:220104815_220104816AC>TT uc002vkm.3 - 7 786 c.547_splice c.e7-1 p.V183_splice GLB1L_uc002vkk.3_Intron|GLB1L_uc010zkx.2_Intron|GLB1L_uc002vkn.3_Splice_Site_p.V183_splice NM_024506 NP_078782 Q6UWU2 GLB1L_HUMAN Homo sapiens galactosidase, beta 1-like (GLB1L), mRNA. 183 carbohydrate metabolic process extracellular region cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 22 all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559) Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TTCATTCTCCACCTGCCAGAGG 0.540000 26 21 0 0 0.004672 0 0 SOS1 6654 broad.mit.edu 37 2 39285889 39285890 + Missense_Mutation DNP GG AA AA TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:39285889_39285890GG>AA uc002rrk.4 - 2 310_311 c.269_270CC>TT c.(268-270)gcc>gTT p.A90V SOS1_uc010ynr.1_Non-coding_Transcript NM_005633 NP_005624 Q07889 SOS1_HUMAN Homo sapiens son of sevenless homolog 1 (Drosophila) (SOS1), mRNA. 90 Ras protein signal transduction|apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway cytosol DNA binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein binding p.A90A(2)|p.A90T(1) autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 75 all_hematologic(82;0.21) TAGCTGATTGGGCATCAGCTAT 0.342000 Noonan syndrome 22 31 0 0 0.004672 0 0 MBD5 55777 broad.mit.edu 37 2 149248107 149248107 + Missense_Mutation SNP T A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:149248107T>A uc002twm.4 + 11 5204 c.4207T>A c.(4207-4209)Tta>Ata p.L1403I MBD5_uc010zbs.2_Intron|MBD5_uc002two.3_Missense_Mutation_p.L661I|MBD5_uc002twp.3_Missense_Mutation_p.L453I NM_018328 NP_060798 Q9P267 MBD5_HUMAN Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA. 1403 PWWP. chromosome|nucleus DNA binding|chromatin binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 62 BRCA - Breast invasive adenocarcinoma(221;0.0569) GCCTGGAAAATTAGTAAGAGA 0.428000 36 38 0 0 0.004878 0 0 PRKACG 5568 broad.mit.edu 37 9 71628256 71628256 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr9:71628256G>A uc004agy.3 - 0 784 c.753C>T c.(751-753)atC>atT p.I251I NM_002732 NP_002723 P22612 KAPCG_HUMAN Homo sapiens protein kinase, cAMP-dependent, catalytic, gamma (PRKACG), mRNA. 251 Protein kinase. I -> N. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport cytosol|nucleoplasm ATP binding|cAMP-dependent protein kinase activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 22 TCCCAGAGACGATCTTCTCGT 0.612000 35 36 0 0 0.005524 0 0 OR51I1 390063 broad.mit.edu 37 11 5461959 5461959 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:5461959C>T uc010qze.2 - 0 825 c.786G>A c.(784-786)atG>atA p.M262I HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron NM_001005288 NP_001005288 Q9H343 O51I1_HUMAN Homo sapiens olfactory receptor, family 51, subfamily I, member 1 (OR51I1), mRNA. 262 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 30 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGCGGTGAATCATGGAGACAG 0.483000 41 28 0 0 0.007291 0 0 GALNT2 2590 broad.mit.edu 37 1 230398393 230398393 + Missense_Mutation SNP G C C TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:230398393G>C uc010pwa.1 + 11 1283 c.1211G>C c.(1210-1212)aGa>aCa p.R404T GALNT2_uc010pvy.1_Missense_Mutation_p.R366T|GALNT2_uc010pvz.1_Non-coding_Transcript|GALNT2_uc001htu.2_Missense_Mutation_p.R16T NM_004481 NP_004472 Q10471 GALT2_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2) (GALNT2), mRNA. 404 immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine Golgi cisterna membrane|extracellular region|integral to Golgi membrane|perinuclear region of cytoplasm manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2) 32 Breast(184;0.193)|Ovarian(103;0.249) all_cancers(173;0.156)|Prostate(94;0.179) CCTTCTGCTAGAAACGTTCCT 0.488000 135 91 0 0 0.014410 0 0 ZNF337 26152 broad.mit.edu 37 20 25657189 25657189 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr20:25657189G>A uc002wva.3 - 3 1257 c.735C>T c.(733-735)ttC>ttT p.F245F ZNF337_uc002wuz.3_Non-coding_Transcript|ZNF337_uc010ztg.2_Silent_p.F213F|ZNF337_uc002wvc.3_Silent_p.F245F NM_015655 NP_056470 Homo sapiens zinc finger protein 337 (ZNF337), mRNA. breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 CCTTGAGGCTGAAGCCTCGCC 0.527000 47 33 0 0 0.010818 0 0 BAAT 570 broad.mit.edu 37 9 104125007 104125007 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr9:104125007G>A uc010mtd.3 - 3 1069 c.960C>T c.(958-960)ttC>ttT p.F320F BAAT_uc004bbd.4_Silent_p.F320F NM_001127610 NP_001692 Q14032 BAAT_HUMAN Homo sapiens bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase) (BAAT), transcript variant 2, mRNA. 320 acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process cytosol|peroxisomal matrix N-acyltransferase activity|carboxylesterase activity|glycine N-choloyltransferase activity|palmitoyl-CoA hydrolase activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 23 Acute lymphoblastic leukemia(62;0.0559) Glycine(DB00145) CAATGAAGAGGAATTGCCCCT 0.473000 47 41 0 0 0.010771 0 0 ATP8B4 79895 broad.mit.edu 37 15 50215660 50215660 + Silent SNP A G G TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr15:50215660A>G uc001zxu.3 - 16 1816 c.1674T>C c.(1672-1674)taT>taC p.Y558Y ATP8B4_uc010ber.3_Silent_p.Y431Y|ATP8B4_uc010ufd.2_Silent_p.Y368Y|ATP8B4_uc010ufe.2_Non-coding_Transcript NM_024837 NP_079113 Q8TF62 AT8B4_HUMAN Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA. 558 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) CTCCTTTGGAATAAAGCTTTA 0.378000 20 13 0 0 0.002450 0 0 BRD4 23476 broad.mit.edu 37 19 15366341 15366341 + Missense_Mutation SNP T A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:15366341T>A uc002nar.3 - 9 2036 c.1814A>T c.(1813-1815)gAc>gTc p.D605V BRD4_uc002nas.3_Missense_Mutation_p.D605V|BRD4_uc002nat.3_Missense_Mutation_p.D605V NM_058243 NP_490597 O60885 BRD4_HUMAN Homo sapiens bromodomain containing 4 (BRD4), transcript variant long, mRNA. 605 interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle condensed nuclear chromosome|cytoplasm protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18) CTTGCACTTGTCCTCTTCCTC 0.592000 T C15orf55 lethal midline carcinoma of young people 73 60 0 0 0.014410 0 0 GDAP2 54834 broad.mit.edu 37 1 118424453 118424453 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:118424453G>A uc001ehf.3 - 11 1593 c.1294C>T c.(1294-1296)Cgt>Tgt p.R432C GDAP2_uc001ehg.3_Missense_Mutation_p.R432C NM_017686 NP_060156 Q9NXN4 GDAP2_HUMAN Homo sapiens ganglioside induced differentiation associated protein 2 (GDAP2), transcript variant 1, mRNA. 432 CRAL-TRIO. kidney(2)|large_intestine(3)|lung(9)|ovary(2) 16 all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295) Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194) ACCTTTGAACGAAATGTGGGA 0.328000 6 41 0 0 0.014410 0 0 PDGFRL 5157 broad.mit.edu 37 8 17447138 17447138 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr8:17447138G>A uc003wxr.3 + 2 662 c.217G>A c.(217-219)Gat>Aat p.D73N NM_006207 NP_006198 Q15198 PGFRL_HUMAN Homo sapiens platelet-derived growth factor receptor-like (PDGFRL), mRNA. 73 Ig-like C2-type 1. extracellular region platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5) 9 Colorectal(111;0.0752) GCAAGTGCTGGATAAAGGTCG 0.507000 40 29 0 0 0.008361 0 0 SLITRK5 26050 broad.mit.edu 37 13 88328984 88328984 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr13:88328984G>A uc001vln.3 + 1 1560 c.1341G>A c.(1339-1341)atG>atA p.M447I SLITRK5_uc010tic.1_Missense_Mutation_p.M206I|SLITRK5_uc021rlc.1_Missense_Mutation_p.M447I NM_015567 NP_056382 O94991 SLIK5_HUMAN Homo sapiens SLIT and NTRK-like family, member 5 (SLITRK5), mRNA. 447 integral to membrane breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4) 81 all_neural(89;0.101)|Medulloblastoma(90;0.163) GCATCTCGATGATCCAGGACC 0.587000 26 20 0 0 0.014323 0 0 TNC 3371 broad.mit.edu 37 9 117798450 117798450 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr9:117798450C>T uc004bjj.4 - 20 5995 c.5583G>A c.(5581-5583)acG>acA p.T1861T TNC_uc010mvf.3_Silent_p.T1588T|TNC_uc022bmj.1_Silent_p.T1498T NM_002160 NP_002151 P24821 TENA_HUMAN Homo sapiens tenascin C (TNC), mRNA. 1861 Fibronectin type-III 14. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 120 GTGTGTATTCCGTGGCAGGCT 0.502000 64 39 0 0 0.006230 0 0 GAK 2580 broad.mit.edu 37 4 906537 906537 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr4:906537C>T uc003gbm.4 - 2 452 c.253G>A c.(253-255)Gaa>Aaa p.E85K GAK_uc003gbn.4_Intron|GAK_uc010ibk.1_Intron|GAK_uc003gbo.2_Non-coding_Transcript|GAK_uc003gbl.4_5'Flank NM_005255 NP_005246 O14976 GAK_HUMAN Homo sapiens cyclin G associated kinase (GAK), mRNA. 85 Protein kinase. cell cycle Golgi apparatus|focal adhesion|perinuclear region of cytoplasm ATP binding|heat shock protein binding|protein serine/threonine kinase activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2) 39 Colorectal(103;0.219) AAGCAAACTTCTTGAATGATG 0.493000 21 19 0 0 0.007413 0 0 AKAP1 8165 broad.mit.edu 37 17 55187450 55187450 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:55187450C>T uc010wnl.2 + 3 2061 c.1779C>T c.(1777-1779)ttC>ttT p.F593F AKAP1_uc002iux.3_Silent_p.F593F|AKAP1_uc021uak.1_Silent_p.F593F|AKAP1_uc010dcm.3_Silent_p.F593F|AKAP1_uc002iuy.3_Non-coding_Transcript NM_001242902 NP_001229831 Q92667 AKAP1_HUMAN Homo sapiens A kinase (PRKA) anchor protein 1 (AKAP1), transcript variant 2, mRNA. 593 blood coagulation cytosol|integral to membrane|mitochondrial outer membrane RNA binding|protein binding endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1) 14 Breast(9;5.46e-08) CTGAGAGCTTCCAAAATGCCC 0.562000 63 59 0 0 0.014410 0 0 DTNA 1837 broad.mit.edu 37 18 32459604 32459604 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr18:32459604G>A uc010dmn.1 + 18 2003 c.2002G>A c.(2002-2004)Gct>Act p.A668T DTNA_uc002kxw.2_Missense_Mutation_p.A611T|DTNA_uc002kxz.2_Missense_Mutation_p.A615T|DTNA_uc002kxy.2_Missense_Mutation_p.A608T|DTNA_uc010dmj.3_Missense_Mutation_p.A608T|DTNA_uc010xby.1_Missense_Mutation_p.A358T|DTNA_uc002kye.3_Missense_Mutation_p.A316T|DTNA_uc010xca.2_Missense_Mutation_p.A320T|DTNA_uc010xbz.2_Missense_Mutation_p.A377T NM_001390 NP_001381 Q9Y4J8 DTNA_HUMAN Homo sapiens dystrobrevin, alpha (DTNA), transcript variant 1, mRNA. 668 neuromuscular synaptic transmission|signal transduction|striated muscle contraction cell junction|cytoplasm|synapse calcium ion binding|protein binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1) 29 CTCTGAAAAGGCTTTTCTAGC 0.478000 24 22 0 0 0.002780 0 0 OR11G2 390439 broad.mit.edu 37 14 20665716 20665716 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr14:20665716C>T uc010tlb.2 + 0 222 c.222C>T c.(220-222)ctC>ctT p.L74L NM_001005503 NP_001005503 Q8NGC1 O11G2_HUMAN Homo sapiens olfactory receptor, family 11, subfamily G, member 2 (OR11G2), mRNA. 74 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 22 all_cancers(95;0.00108) Epithelial(56;9.76e-07)|all cancers(55;5.61e-06) GBM - Glioblastoma multiforme(265;0.0144) TTGTTTACCTCCTGACCCTCA 0.567000 46 16 0 0 0.004990 0 0 BEND4 389206 broad.mit.edu 37 4 42119579 42119579 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr4:42119579C>T uc003gwn.3 - 5 2141 c.1561G>A c.(1561-1563)Gat>Aat p.D521N BEND4_uc003gwm.3_3'UTR NM_207406 NP_997289 Q6ZU67 BEND4_HUMAN Homo sapiens BEN domain containing 4 (BEND4), transcript variant 1, mRNA. 521 NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 26 AAGACTTCATCCTGAGAAGCC 0.527000 11 9 0 0 0.006214 0 0 BCAR1 9564 broad.mit.edu 37 16 75276498 75276498 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr16:75276498G>A uc002fdv.3 - 1 649 c.503C>T c.(502-504)cCc>cTc p.P168L BCAR1_uc010vna.2_Missense_Mutation_p.P166L|BCAR1_uc010cgu.3_Missense_Mutation_p.P168L|BCAR1_uc010vnb.2_Missense_Mutation_p.P214L|BCAR1_uc002fdw.3_Missense_Mutation_p.P168L|BCAR1_uc010vnc.2_Intron|BCAR1_uc010vnd.2_Missense_Mutation_p.P186L|BCAR1_uc002fdx.3_Missense_Mutation_p.P186L NM_014567 NP_055382 P56945 BCAR1_HUMAN Homo sapiens breast cancer anti-estrogen resistance 1 (BCAR1), transcript variant 6, mRNA. 168 Substrate for kinases (By similarity). B cell receptor signaling pathway|G-protein coupled receptor protein signaling pathway|T cell receptor signaling pathway|actin filament organization|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth cytosol|focal adhesion|membrane fraction|ruffle SH3 domain binding|protein kinase binding|protein phosphatase binding|signal transducer activity breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2) 35 BRCA - Breast invasive adenocarcinoma(221;0.169) AGGCCCTGGGGGCACCTGGTA 0.637000 70 74 0 0 0.014410 0 0 NOS1 4842 broad.mit.edu 37 12 117685243 117685243 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:117685243C>T uc001twn.2 - 18 3546 c.2835G>A c.(2833-2835)ctG>ctA p.L945L NOS1_uc021ren.1_Silent_p.L575L|NOS1_uc021reo.1_Silent_p.L575L|NOS1_uc001twm.2_Silent_p.L911L NM_001204218 NP_001191147 P29475 NOS1_HUMAN Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA. 911 multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) TCTCCCCTCCCAGTTCTTCCA 0.557000 55 40 0 0 0.008740 0 0 GPLD1 2822 broad.mit.edu 37 6 24460608 24460608 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:24460608C>T uc003ned.1 - 11 1018 c.907G>A c.(907-909)Gat>Aat p.D303N GPLD1_uc010jpr.1_Missense_Mutation_p.D140N|GPLD1_uc010jps.1_Missense_Mutation_p.D303N NM_001503 NP_001494 P80108 PHLD_HUMAN Homo sapiens glycosylphosphatidylinositol specific phospholipase D1 (GPLD1), transcript variant 1, mRNA. 303 extracellular region glycosylphosphatidylinositol phospholipase D activity breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 32 CTGTGAAAATCATTTTTCTGC 0.363000 11 77 0 0 0.014410 0 0 SCN11A 11280 broad.mit.edu 37 3 38936125 38936125 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:38936125C>T uc021wvy.1 - 14 2933 c.2734G>A c.(2734-2736)Gat>Aat p.D912N SCN11A_uc010hhn.1_Missense_Mutation_p.D28N NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA. 912 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity p.D912N(2) NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) CAAGTCCAATCATGCCTGACG 0.507000 80 67 0 0 0.014410 0 0 OR5R1 219479 broad.mit.edu 37 11 56184842 56184842 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:56184842G>A uc010rji.2 - 0 867 c.867C>T c.(865-867)atC>atT p.I289I OR8U8_uc001nit.2_Intron NM_001004744 NP_001004744 Q8NH85 OR5R1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily R, member 1 (OR5R1), mRNA. 289 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I289F(1) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1) 37 Esophageal squamous(21;0.00448) TTAGACTATAGATTAGGGGGT 0.358000 51 32 0 0 0.004289 0 0 ODZ4 26011 broad.mit.edu 37 11 78498042 78498042 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:78498042C>T uc001ozl.4 - 15 2729 c.2266G>A c.(2266-2268)Gac>Aac p.D756N NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA. 756 EGF-like 6. signal transduction integral to membrane breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 GCCCGCTGGTCGCAGGCTGCC 0.697000 2 5 0 0 0.000602 0 0 NKAIN3 286183 broad.mit.edu 37 8 63659634 63659634 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr8:63659634C>T uc010lyq.1 + 3 549 c.417C>T c.(415-417)atC>atT p.I139I NM_173688 NP_775959 Q8N8D7 NKAI3_HUMAN Homo sapiens Na+/K+ transporting ATPase interacting 3 (NKAIN3), mRNA. 139 integral to membrane|plasma membrane kidney(3)|large_intestine(2)|lung(8) 13 Breast(64;0.127) Lung NSC(129;0.187) CAGGCTGCATCGTTGACTTCC 0.493000 17 26 0 0 0.004656 0 0 CSMD2 114784 broad.mit.edu 37 1 34049348 34049348 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:34049348G>A uc001bxm.1 - 46 7311 c.7134C>T c.(7132-7134)ttC>ttT p.F2378F CSMD2_uc001bxn.1_Silent_p.F2380F NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 2380 CUB 14. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) AGCAGGTCTGGAACTGGGGAT 0.502000 58 48 0 0 0.013114 0 0 DSCAM 1826 broad.mit.edu 37 21 41648169 41648169 + Missense_Mutation SNP A C C TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr21:41648169A>C uc002yyq.1 - 10 2663 c.2211T>G c.(2209-2211)atT>atG p.I737M 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. 737 Ig-like C2-type 8. 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) CATTTAGGGCAATTGGCTGGA 0.498000 23 17 0 0 0.004990 0 0 TSPAN13 27075 broad.mit.edu 37 7 16823044 16823044 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr7:16823044C>T uc003stq.3 + 5 785 c.543C>T c.(541-543)atC>atT p.I181I NM_014399 NP_055214 O95857 TSN13_HUMAN Homo sapiens tetraspanin 13 (TSPAN13), mRNA. 181 integral to plasma membrane|membrane fraction autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)|stomach(1) 7 Lung NSC(10;0.0494)|all_lung(11;0.109) UCEC - Uterine corpus endometrioid carcinoma (126;0.188) CATTCCAGATCCTGGGTGTTT 0.373000 48 36 0 0 0.003271 0 0 FAM53C 51307 broad.mit.edu 37 5 137680697 137680697 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr5:137680697C>T uc003lcv.3 + 3 790 c.320C>T c.(319-321)cCt>cTt p.P107L FAM53C_uc003lcw.3_Missense_Mutation_p.P107L|FAM53C_uc011cyq.2_Intron|FAM53C_uc011cyr.2_Intron NM_001135647 NP_057689 Q9NYF3 FA53C_HUMAN Homo sapiens family with sequence similarity 53, member C (FAM53C), transcript variant 1, mRNA. 107 breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) GAGAAGCTTCCTGTGCCCCCT 0.662000 9 26 0 0 0.004656 0 0 CXorf66 347487 broad.mit.edu 37 X 139038683 139038683 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chrX:139038683C>T uc004fbb.3 - 2 480 c.458G>A c.(457-459)gGa>gAa p.G153E NM_001013403 NP_001013421 Q5JRM2 CX066_HUMAN Homo sapiens chromosome X open reading frame 66 (CXorf66), mRNA. 153 Ser-rich. integral to membrane breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1) 26 AGTTAACTTTCCTGCACTGTT 0.418000 12 115 0 0 0.014410 0 0 SLC9A2 6549 broad.mit.edu 37 2 103236547 103236547 + Silent SNP C A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:103236547C>A uc002tca.3 + 0 382 c.240C>A c.(238-240)atC>atA p.I80I NM_003048 NP_003039 Q9UBY0 SL9A2_HUMAN Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA. 80 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 ACGTGCAGATCCCCTTCGAGA 0.642000 24 19 0.000295444 0.000308621 0.014323 1 0 TTN 7273 broad.mit.edu 37 2 179453361 179453361 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:179453361C>T uc021vsy.1 - 252 55612 c.55387G>A c.(55387-55389)Gac>Aac p.D18463N MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.D12158N|TTN_uc021vta.1_Missense_Mutation_p.D12091N|TTN_uc021vtb.1_Missense_Mutation_p.D11966N NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 19390 Ig-like 106. 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) TATTCATGGTCTGGGAGGAGA 0.448000 128 81 0 0 0.014410 0 0 SALL4 57167 broad.mit.edu 37 20 50418824 50418824 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr20:50418824C>T uc002xwh.4 - 0 225 c.124G>A c.(124-126)Gag>Aag p.E42K SALL4_uc010gii.3_Missense_Mutation_p.E42K|SALL4_uc002xwi.4_Missense_Mutation_p.E42K NM_020436 NP_065169 Q9UJQ4 SALL4_HUMAN Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA. 42 transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 TCACCCAGCTcccccgccgcg 0.756000 14 11 0 0 0.010729 0 0 CFH 3075 broad.mit.edu 37 1 196881899 196881899 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:196881899G>A uc001gtp.3 + 6 1164 c.1027G>A c.(1027-1029)Gaa>Aaa p.E343K CFH_uc021pgt.1_Missense_Mutation_p.E25K|CFH_uc009wyy.3_Missense_Mutation_p.E342K|CFH_uc001gto.3_Missense_Mutation_p.E96K NM_001201550 NP_001188479 P08603 CFAH_HUMAN Homo sapiens complement factor H-related 4 (CFHR4), transcript variant 1, mRNA. 698 Sushi 6. 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 TATAGAAATTGAAAATGGATT 0.259000 11 4 0 0 0.001168 0 0 GRIN2A 2903 broad.mit.edu 37 16 10273906 10273906 + Silent SNP G A A rs145961628 TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr16:10273906G>A uc010uym.2 - 2 673 c.363C>T c.(361-363)ttC>ttT p.F121F GRIN2A_uc002czo.4_Silent_p.F121F|GRIN2A_uc002czr.4_Silent_p.F121F|GRIN2A_uc010buk.3_Silent_p.F121F NM_000833 NP_001127879 Q12879 NMDE1_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA. 121 response to ethanol N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding p.F121L(2) NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) AGATGGGGACGAAGGTGTGGG 0.602000 48 39 0 0 0.006999 0 0 SLC2A1 6513 broad.mit.edu 37 1 43392771 43392771 + Missense_Mutation SNP G T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:43392771G>T uc001cik.2 - 9 1945 c.1420C>A c.(1420-1422)Caa>Aaa p.Q474K NM_006516 NP_006507 P11166 GTR1_HUMAN Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 1 (SLC2A1), mRNA. 474 carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process integral to membrane|melanosome|membrane fraction|midbody D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2) 13 Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0122) Etomidate(DB00292) TTGTCACTTTGGCTGGCTCCC 0.597000 42 34 1.62565e-12 1.72119e-12 0.012213 1 0 ADH7 131 broad.mit.edu 37 4 100350759 100350759 + Missense_Mutation SNP T C C TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr4:100350759T>C uc003huv.2 - 1 327 c.86A>G c.(85-87)gAg>gGg p.E29G ADH7_uc021xqj.1_Missense_Mutation_p.E37G NM_000673 NP_000664 P40394 ADH7_HUMAN Homo sapiens alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide (ADH7), transcript variant 2, mRNA. 29 ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process cytosol|soluble fraction alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1) 19 OV - Ovarian serous cystadenocarcinoma(123;1.75e-08) NADH(DB00157) TTGCTTCTGCTCCCAAAGCAC 0.413000 12 8 0 0 0.010729 0 0 INPPL1 3636 broad.mit.edu 37 11 71939529 71939530 + Missense_Mutation DNP CC TT TT TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:71939529_71939530CC>TT uc001osf.3 + 2 531_532 c.384_385CC>TT c.(382-387)gaccgg>gaTTgg p.R129W INPPL1_uc001osg.3_5'UTR NM_001567 NP_001558 O15357 SHIP2_HUMAN Homo sapiens inositol polyphosphate phosphatase-like 1 (INPPL1), mRNA. 129 actin filament organization|cell adhesion|endocytosis actin cortical patch|cytosol SH2 domain binding|SH3 domain binding|actin binding breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 CACCGGATGACCGGGATGCCTC 0.649000 62 28 0 0 0.004672 0 0 OR9Q2 219957 broad.mit.edu 37 11 57958679 57958679 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:57958679C>T uc010rka.2 + 0 774 c.717C>T c.(715-717)tcC>tcT p.S239S NM_001005283 NP_001005283 Q8NGE9 OR9Q2_HUMAN Homo sapiens olfactory receptor, family 9, subfamily Q, member 2 (OR9Q2), mRNA. 239 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 Breast(21;0.0589) AGACCTTCTCCACCTGCGCCT 0.567000 44 30 0 0 0.009535 0 0 CES3 23491 broad.mit.edu 37 16 67006383 67006383 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr16:67006383C>T uc002eqt.3 + 10 1495 c.1416C>T c.(1414-1416)ttC>ttT p.F472F CES3_uc010cdz.3_Silent_p.F472F|CES3_uc010viw.2_Silent_p.F111F NM_024922 NP_079198 Q6UWW8 EST3_HUMAN Homo sapiens carboxylesterase 3 (CES3), transcript variant 1, mRNA. 472 endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity p.P471F(1) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1) 24 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127) GAGGTCCCTTCCTCATGGACG 0.582000 71 44 0 0 0.014410 0 0 MEIS2 4212 broad.mit.edu 37 15 37184640 37184640 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr15:37184640C>T uc001zjr.3 - 11 2242 c.1168G>A c.(1168-1170)Gac>Aac p.D390N MEIS2_uc001zjl.3_3'UTR|MEIS2_uc010ucj.2_Missense_Mutation_p.D370N|MEIS2_uc001zjm.3_3'UTR|MEIS2_uc001zjn.3_3'UTR|MEIS2_uc001zjo.3_3'UTR|MEIS2_uc001zjp.3_3'UTR|MEIS2_uc001zjs.3_Missense_Mutation_p.D383N|MEIS2_uc001zju.3_3'UTR|MEIS2_uc001zjt.3_Missense_Mutation_p.D383N|MEIS2_uc001zjj.3_Missense_Mutation_p.D86N|MEIS2_uc001zjk.3_Missense_Mutation_p.D79N NM_170675 NP_733775 O14770 MEIS2_HUMAN Homo sapiens Meis homeobox 2 (MEIS2), transcript variant c, mRNA. 390 negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity p.G389V(1) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 36 all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155) all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288) GAAACGTAGTCCCCTGGCATG 0.443000 128 85 0 0 0.014410 0 0 OR2T4 127074 broad.mit.edu 37 1 248525497 248525497 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:248525497G>A uc001ieh.1 + 0 615 c.615G>A c.(613-615)gaG>gaA p.E205E NM_001004696 NP_001004696 Q8NH00 OR2T4_HUMAN Homo sapiens olfactory receptor, family 2, subfamily T, member 4 (OR2T4), mRNA. 205 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47) 56 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GATCCCGGGAGATTCATCATT 0.498000 96 63 0 0 0.014410 0 0 TCERG1 10915 broad.mit.edu 37 5 145878238 145878238 + Missense_Mutation SNP A G G TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr5:145878238A>G uc003lob.3 + 15 2411 c.2371A>G c.(2371-2373)Aga>Gga p.R791G TCERG1_uc003loc.3_Missense_Mutation_p.R770G NM_006706 NP_006697 O14776 TCRG1_HUMAN Homo sapiens transcription elongation regulator 1 (TCERG1), transcript variant 1, mRNA. 791 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1) 46 Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TTCGAAGACCAGAGGTGAGAA 0.403000 4 14 0 0 0.004990 0 0 IL17RA 23765 broad.mit.edu 37 22 17589371 17589371 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr22:17589371C>T uc002zly.3 + 12 1393 c.1262C>T c.(1261-1263)tCg>tTg p.S421L NM_014339 NP_055154 Q96F46 I17RA_HUMAN Homo sapiens interleukin 17 receptor A (IL17RA), mRNA. 421 SEFIR. fibroblast activation|positive regulation of interleukin-23 production integral to plasma membrane interleukin-17 receptor activity endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1) 30 all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132) Colorectal(9;0.241) CAGGCCATCTCGGAGGCAGGA 0.637000 42 31 0 0 0.010818 0 0 FASLG 356 broad.mit.edu 37 1 172634863 172634863 + Missense_Mutation SNP G A A rs80358236 TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:172634863G>A uc001gis.3 + 3 710 c.553G>A c.(553-555)Gaa>Aaa p.E185K FASLG_uc001git.3_3'UTR NM_000639 NP_000630 P48023 TNFL6_HUMAN Homo sapiens Fas ligand (TNF superfamily, member 6) (FASLG), mRNA. 185 activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction extracellular space|integral to plasma membrane cytokine activity breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1) 19 TGTGATCAATGAAACTGGGCT 0.463000 37 39 0 0 0.004289 0 0 MAGEB16 139604 broad.mit.edu 37 X 35821044 35821044 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chrX:35821044G>A uc010ngt.1 + 1 1010 c.731G>A c.(730-732)gGa>gAa p.G244E MAGEB16_uc022bus.1_Missense_Mutation_p.G244E NM_001099921 NP_001093391 A2A368 MAGBG_HUMAN Homo sapiens melanoma antigen family B, 16 (MAGEB16), mRNA. 244 MAGE. breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 TTCATCTTTGGAGAGCCCAGA 0.488000 0 13 0 0 0.003163 0 0 OR13C8 138802 broad.mit.edu 37 9 107332076 107332076 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr9:107332076C>T uc011lvo.2 + 0 628 c.628C>T c.(628-630)Cca>Tca p.P210S NM_001004483 NP_001004483 Q8NGS7 O13C8_HUMAN Homo sapiens olfactory receptor, family 13, subfamily C, member 8 (OR13C8), mRNA. 210 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1) 25 TCTGGTTATTCCATTGTTAGT 0.388000 58 27 0 0 0.005443 0 0 ZCWPW2 152098 broad.mit.edu 37 3 28476704 28476704 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:28476704C>T uc003ceh.3 + 3 604 c.436C>T c.(436-438)Cat>Tat p.H146Y ZCWPW2_uc003cei.3_Missense_Mutation_p.H146Y|ZCWPW2_uc010hfo.3_5'UTR NM_001040432 NP_001035522 Q504Y3 ZCPW2_HUMAN Homo sapiens zinc finger, CW type with PWWP domain 2 (ZCWPW2), mRNA. 146 PWWP. zinc ion binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2) 17 GGGCGATCCCCATTCAAGATC 0.373000 46 30 0 0 0.009535 0 0 SCN3A 6328 broad.mit.edu 37 2 165948804 165948804 + Nonsense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:165948804C>T uc002ucx.3 - 26 5259 c.4767G>A c.(4765-4767)tgG>tgA p.W1589* SCN3A_uc010zcy.2_Nonsense_Mutation_p.W72*|SCN3A_uc002ucy.3_Nonsense_Mutation_p.W1540*|SCN3A_uc002ucz.3_Nonsense_Mutation_p.W1540* NM_006922 NP_008853 Q9NY46 SCN3A_HUMAN Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA. 1589 voltage-gated sodium channel complex voltage-gated sodium channel activity p.G1588A(1) NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) CAAAGATGTTCCAGCCTATAG 0.433000 37 20 0 0 0.007413 0 0 RIBC2 26150 broad.mit.edu 37 22 45822019 45822019 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr22:45822019C>T uc011aqs.2 + 5 1058 c.849C>T c.(847-849)atC>atT p.I283I NM_015653 NP_056468 Q9H4K1 RIBC2_HUMAN Homo sapiens RIB43A domain with coiled-coils 2 (RIBC2), mRNA. 216 NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|skin(2)|urinary_tract(1) 10 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178) TGGAGCAGATCCGCCTAGTCC 0.637000 17 20 0 0 0.010504 0 0 PCDHB4 56131 broad.mit.edu 37 5 140503930 140503930 + Missense_Mutation SNP G A A rs140862802 TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr5:140503930G>A uc003lip.1 + 0 2350 c.2350G>A c.(2350-2352)Gaa>Aaa p.E784K NM_018938 NP_061761 Q9Y5E5 PCDB4_HUMAN Homo sapiens protocadherin beta 4 (PCDHB4), mRNA. 784 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding p.E784K(2) autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGAAGTTAAGGAAAACCCCAA 0.448000 10 18 0 0 0.008871 0 0 PRKAG3 53632 broad.mit.edu 37 2 219695066 219695067 + Missense_Mutation DNP CC TT TT TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:219695066_219695067CC>TT uc002vjb.1 - 3 286_287 c.267_268GG>AA c.(265-270)ctggag>ctAAag p.E90K PRKAG3_uc010zkn.1_Non-coding_Transcript|PRKAG3_uc010fvy.1_Missense_Mutation_p.E90K|PRKAG3_uc010zko.1_Missense_Mutation_p.E86K NM_017431 NP_059127 Q9UGI9 AAKG3_HUMAN Homo sapiens protein kinase, AMP-activated, gamma 3 non-catalytic subunit (PRKAG3), mRNA. 90 cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation cytosol AMP-activated protein kinase activity|protein kinase binding large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 20 Renal(207;0.0474) Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AATGTGGCCTCCAGCCCGGTGG 0.619000 28 19 0 0 0.004672 0 0 OR14A16 284532 broad.mit.edu 37 1 247978344 247978344 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:247978344C>T uc001idm.1 - 0 688 c.688G>A c.(688-690)Gaa>Aaa p.E230K NM_001001966 NP_001001966 Q8NHC5 O14AG_HUMAN Homo sapiens olfactory receptor, family 14, subfamily A, member 16 (OR14A16), mRNA. 230 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1) 45 GACTGGCCTTCTGTGGAAGGG 0.408000 14 15 0 0 0.004007 0 0 MUC16 94025 broad.mit.edu 37 19 9065029 9065029 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:9065029G>A uc002mkp.3 - 2 22621 c.22417C>T c.(22417-22419)Cct>Tct p.P7473S NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 7475 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TTTGAGAAAGGATGAATTTTC 0.473000 68 44 0 0 0.013114 0 0 UBASH3A 53347 broad.mit.edu 37 21 43863490 43863490 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr21:43863490C>T uc002zbe.3 + 12 1784 c.1700C>T c.(1699-1701)gCg>gTg p.A567V UBASH3A_uc002zbf.3_Missense_Mutation_p.A529V|UBASH3A_uc010gpe.3_Intron|UBASH3A_uc010gpc.3_Non-coding_Transcript|UBASH3A_uc010gpd.3_Non-coding_Transcript NM_018961 NP_061834 P57075 UBS3A_HUMAN Homo sapiens ubiquitin associated and SH3 domain containing A (UBASH3A), transcript variant 1, mRNA. 567 Phosphatase-like. cytosol|nucleus breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3) 28 AGGTGCACGGCGAGCATGGTG 0.587000 17 4 0 0 0.009096 0 0 CXCR1 3577 broad.mit.edu 37 2 219029360 219029360 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:219029360C>T uc021vwq.1 - 0 575 c.575G>A c.(574-576)gGa>gAa p.G192E CXCR1_uc002vhc.3_Missense_Mutation_p.G192E|HV303425_uc021vwr.1_5'Flank NM_000634 NP_000625 P25024 CXCR1_HUMAN Homo sapiens chemokine (C-X-C motif) receptor 1 (CXCR1), mRNA. 192 dendritic cell chemotaxis|inflammatory response integral to membrane|plasma membrane interleukin-8 receptor activity endometrium(1)|large_intestine(2)|lung(7)|prostate(3) 13 TGTGTCATTTCCCAGGACCTC 0.522000 35 25 0 0 0.004656 0 0 UBE2Q2P1 388165 broad.mit.edu 37 15 85098251 85098251 + RNA SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr15:85098251G>A uc002bkn.1 - 1 c.1342C>T Homo sapiens ubiquitin-conjugating enzyme E2Q family member 2 pseudogene 1 (UBE2Q2P1), non-coding RNA. GCTTAGGAAGGTTATATAATC 0.378000 7 4 0 0 0.009096 0 0 ZNF648 127665 broad.mit.edu 37 1 182025636 182025636 + Missense_Mutation SNP A T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:182025636A>T uc001goz.3 - 1 1718 c.1510T>A c.(1510-1512)Ttc>Atc p.F504I ZNF648_uc021pfu.1_Missense_Mutation_p.F504I NM_001009992 NP_001009992 Q5T619 ZN648_HUMAN Homo sapiens zinc finger protein 648 (ZNF648), mRNA. 504 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 40 GCACAGAGGAATCCCTTCTCC 0.622000 13 8 0 0 0.006214 0 0 ATP8A2 51761 broad.mit.edu 37 13 26116179 26116179 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr13:26116179G>A uc001uqk.3 + 8 916 c.774G>A c.(772-774)ggG>ggA p.G258G ATP8A2_uc010tdi.2_Silent_p.G218G|ATP8A2_uc010tdj.2_Non-coding_Transcript|ATP8A2_uc001uql.1_Silent_p.G218G NM_016529 NP_057613 Q9NTI2 AT8A2_HUMAN Homo sapiens ATPase, aminophospholipid transporter, class I, type 8A, member 2 (ATP8A2), mRNA. 218 ATP biosynthetic process|negative regulation of cell proliferation integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1) 72 Breast(139;0.0201)|Lung SC(185;0.0225) all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079) ACTTAGATGGGAAAAGGTATT 0.363000 32 11 0 0 0.013537 0 0 INHA 3623 broad.mit.edu 37 2 220440064 220440064 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:220440064C>T uc002vmk.2 + 1 1060 c.917C>T c.(916-918)cCa>cTa p.P306L NM_002191 NP_002182 P05111 INHA_HUMAN Homo sapiens inhibin, alpha (INHA), mRNA. 306 cell cycle arrest|cell surface receptor linked signaling pathway|cell-cell signaling|erythrocyte differentiation|hemoglobin biosynthetic process|induction of apoptosis|negative regulation of B cell differentiation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|regulation of cell proliferation|response to external stimulus|skeletal system development inhibin A complex|inhibin-betaglycan-ActRII complex cytokine activity|growth factor activity|hormone activity|signal transducer activity p.L305R(1) large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1) 10 Renal(207;0.0183) Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802) CTGTCCCTTCCAGTCCCTGGG 0.632000 55 36 0 0 0.003755 0 0 ZNF682 91120 broad.mit.edu 37 19 20117476 20117476 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:20117476G>A uc002noq.3 - 3 958 c.835C>T c.(835-837)Cat>Tat p.H279Y ZNF682_uc002noo.3_Missense_Mutation_p.H247Y|ZNF682_uc002nop.3_Missense_Mutation_p.H247Y|ZNF682_uc010eck.3_Missense_Mutation_p.H203Y NM_033196 NP_001070817 O95780 ZN682_HUMAN Homo sapiens zinc finger protein 682 (ZNF682), transcript variant 1, mRNA. 279 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 TCTCCTGTATGAATTTTCTTA 0.398000 37 34 0 0 0.012213 0 0 OR5H1 26341 broad.mit.edu 37 3 97852045 97852045 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:97852045C>T uc011bgt.2 + 0 504 c.504C>T c.(502-504)ttC>ttT p.F168F NM_001005338 NP_001005338 A6NKK0 OR5H1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily H, member 1 (OR5H1), mRNA. 168 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1) 34 GACTAACCTTCTGTAACTCCA 0.328000 36 23 0 0 0.009535 0 0 CWF19L1 55280 broad.mit.edu 37 10 102013297 102013297 + Splice_Site SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr10:102013297C>T uc001kqq.1 - 6 592 c.505_splice c.e6-1 p.G169_splice CWF19L1_uc001kqs.1_Splice_Site|CWF19L1_uc001kqr.1_Splice_Site_p.G169_splice|CWF19L1_uc001kqt.1_Splice_Site|CWF19L1_uc010qpn.1_Splice_Site_p.G32_splice NM_018294 NP_060764 Q69YN2 C19L1_HUMAN Homo sapiens CWF19-like 1, cell cycle control (S. pombe) (CWF19L1), mRNA. 169 catalytic activity p.?(1) cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2) 17 Colorectal(252;0.117) Epithelial(162;3.78e-10)|all cancers(201;3.1e-08) CCACTTCTCCCTAGTAAACAA 0.338000 38 31 0 0 0.010818 0 0 MAGEA10 4109 broad.mit.edu 37 X 151303315 151303315 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chrX:151303315C>T uc022cgz.1 - 0 778 c.778G>A c.(778-780)Gag>Aag p.E260K MAGEA5_uc022cgy.1_Intron|MAGEA10_uc004ffk.3_Missense_Mutation_p.E260K|MAGEA10_uc004ffm.2_Missense_Mutation_p.E260K|MAGEA10_uc004ffl.3_Missense_Mutation_p.E260K NM_021048 NP_066386 P43363 MAGAA_HUMAN Homo sapiens melanoma antigen family A, 10 (MAGEA10), transcript variant 2, mRNA. 260 MAGE. endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) ATGAGGTGCTCCATCCCATCA 0.532000 6 45 0 0 0.010771 0 0 STK36 27148 broad.mit.edu 37 2 219562684 219562684 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:219562684C>T uc002viu.3 + 24 3296 c.3017C>T c.(3016-3018)gCc>gTc p.A1006V STK36_uc002viv.3_Missense_Mutation_p.A985V|STK36_uc002vix.3_Missense_Mutation_p.A51V NM_015690 NP_056505 Q9NRP7 STK36_HUMAN Homo sapiens serine/threonine kinase 36 (STK36), transcript variant 1, mRNA. 1006 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 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) GGTGTCTTGGCCGACCTCAGG 0.547000 58 52 0 0 0.014410 0 0 CNTN5 53942 broad.mit.edu 37 11 100169975 100169975 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:100169975G>A uc001pga.3 + 19 2971 c.2467G>A c.(2467-2469)Gaa>Aaa p.E823K CNTN5_uc001pfz.3_Missense_Mutation_p.E823K|CNTN5_uc021qpb.1_Missense_Mutation_p.E823K|CNTN5_uc021qpc.1_Missense_Mutation_p.E749K|CNTN5_uc010ruk.2_Missense_Mutation_p.E94K NM_014361 NP_055176 O94779 CNTN5_HUMAN Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA. 823 Fibronectin type-III 2. cell adhesion anchored to membrane|plasma membrane protein binding p.E823K(2) NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) TGGCTGGAAGGAAAAAATGGT 0.408000 30 8 0 0 0.003080 0 0 RPA4 29935 broad.mit.edu 37 X 96139470 96139470 + Missense_Mutation SNP T A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chrX:96139470T>A uc004efv.4 + 0 564 c.161T>A c.(160-162)cTt>cAt p.L54H DIAPH2_uc004eft.4_Intron|DIAPH2_uc004efu.4_Intron|DIAPH2_uc004efs.2_Intron NM_013347 NP_037479 Q13156 RFA4_HUMAN Homo sapiens replication protein A4, 30kDa (RPA4), mRNA. 54 DNA damage checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair DNA replication factor A complex|nucleoplasm single-stranded DNA binding endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1) 13 GTGAACCAGCTTCTCAGCTCT 0.493000 Other identified genes with known or suspected DNA repair function 3 34 0 0 0.005524 0 0 GNL1 2794 broad.mit.edu 37 6 30515241 30515241 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:30515241G>A uc003nqh.3 - 8 2557 c.1166C>T c.(1165-1167)tCc>tTc p.S389F GNL1_uc011dmi.2_Missense_Mutation_p.S186F|GNL1_uc011dmj.2_Missense_Mutation_p.S387F|GNL1_uc011dmk.2_Missense_Mutation_p.S44F NM_005275 NP_005266 P36915 GNL1_HUMAN Homo sapiens guanine nucleotide binding protein-like 1 (GNL1), mRNA. 389 G. T cell mediated immunity|response to DNA damage stimulus|signal transduction extracellular space|intracellular GTP binding|structural molecule activity cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 25 CGGGGTTCTGGAGACACTCAC 0.527000 16 135 0 0 0.014410 0 0 MYH4 4622 broad.mit.edu 37 17 10353813 10353813 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:10353813C>T uc002gmn.3 - 29 4249 c.4138G>A c.(4138-4140)Gag>Aag p.E1380K AK097500_uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA. 1380 muscle filament sliding muscle myosin complex|myosin filament|sarcomere ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 GCGTCCGTCTCGTACTTGGTC 0.557000 90 49 0 0 0.014410 0 0 TECRL 253017 broad.mit.edu 37 4 65155462 65155462 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr4:65155462G>A uc003hcv.3 - 8 907 c.798C>T c.(796-798)ttC>ttT p.F266F NM_001010874 NP_001010874 Q5HYJ1 TECRL_HUMAN Homo sapiens trans-2,3-enoyl-CoA reductase-like (TECRL), mRNA. 266 lipid metabolic process cytoplasm|integral to membrane oxidoreductase activity, acting on the CH-CH group of donors endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1) 47 TTACATTGATGAAATGATTCC 0.274000 3 7 0 0 0.008291 0 0 DNAH8 1769 broad.mit.edu 37 6 38704979 38704979 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:38704979C>T uc021yzh.1 + 5 1008 c.899C>T c.(898-900)tCt>tTt p.S300F DNAH8_uc003ooe.2_Missense_Mutation_p.S83F 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 CAGGGAGAATCTGAAAAACAT 0.323000 10 40 0 0 0.008740 0 0 LRP3 4037 broad.mit.edu 37 19 33698215 33698215 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:33698215C>T uc010edh.3 + 6 2140 c.2047C>T c.(2047-2049)Ccc>Tcc p.P683S LRP3_uc002nuk.4_Missense_Mutation_p.P557S NM_002333 NP_002324 O75074 LRP3_HUMAN Homo sapiens low density lipoprotein receptor-related protein 3 (LRP3), mRNA. 683 receptor-mediated endocytosis coated pit|integral to membrane receptor activity breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2) 15 Esophageal squamous(110;0.137) TTCAGGGCCACCCTTGCCCTC 0.706000 11 4 0 0 0.001168 0 0 GPR137C 283554 broad.mit.edu 37 14 53100346 53100346 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr14:53100346C>T uc001wzt.4 + 5 1014 c.1014C>T c.(1012-1014)ttC>ttT p.F338F GPR137C_uc001wzu.4_Silent_p.F322F NM_001099652 NP_001093122 Q8N3F9 G137C_HUMAN Homo sapiens G protein-coupled receptor 137C (GPR137C), mRNA. 322 integral to membrane NS(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 8 Breast(41;0.0716) TACTGTTTTTCCGGGCACAGA 0.368000 24 22 0 0 0.010504 0 0 PTPRD 5789 broad.mit.edu 37 9 8317926 8317926 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr9:8317926G>A uc003zkk.3 - 45 6430 c.5687C>T c.(5686-5688)tCc>tTc p.S1896F PTPRD_uc003zkp.3_Missense_Mutation_p.S1490F|PTPRD_uc003zkq.3_Missense_Mutation_p.S1489F|PTPRD_uc003zkr.3_Missense_Mutation_p.S1480F|PTPRD_uc003zks.3_Missense_Mutation_p.S1489F|PTPRD_uc022bdj.1_Missense_Mutation_p.S1486F NM_002839 NP_002830 P23468 PTPRD_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA. 1896 Tyrosine-protein phosphatase 2. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) GGCACGATAGGAAAACTGATA 0.408000 TSP Lung(15;0.13) 12 62 0 0 0.014410 0 0 TNFRSF21 27242 broad.mit.edu 37 6 47221154 47221154 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:47221154G>A uc003oyv.3 - 3 1780 c.1347C>T c.(1345-1347)tcC>tcT p.S449S NM_014452 NP_055267 O75509 TNR21_HUMAN Homo sapiens tumor necrosis factor receptor superfamily, member 21 (TNFRSF21), mRNA. 449 Death. cellular lipid metabolic process cytoplasm|integral to membrane protein binding|receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2) 21 Lung(136;0.189) TGTACCCATTGGAGAAAGCAG 0.582000 21 16 0 0 0.003163 0 0 CNGA4 1262 broad.mit.edu 37 11 6261336 6261336 + Missense_Mutation SNP G C C TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:6261336G>C uc001mco.3 + 3 427 c.312G>C c.(310-312)agG>agC p.R104S CNGA4_uc010raa.2_Intron|CNGA4_uc001mcn.3_Missense_Mutation_p.R64S NM_001037329 NP_001032406 Q8IV77 CNGA4_HUMAN Homo sapiens cyclic nucleotide gated channel alpha 4 (CNGA4), mRNA. 104 response to stimulus|sensory perception of smell cAMP binding endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1) 40 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) ACAAGGGTAGGATCTCGAGTC 0.597000 62 45 0 0 0.009718 0 0 PARD3 56288 broad.mit.edu 37 10 34606232 34606232 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr10:34606232C>T uc010qej.2 - 19 3207 c.2877G>A c.(2875-2877)ggG>ggA p.G959G PARD3_uc010qep.2_Silent_p.G869G|PARD3_uc010qeq.2_Silent_p.G884G|PARD3_uc010qek.2_Silent_p.G956G|PARD3_uc010qel.2_Silent_p.G959G|PARD3_uc010qem.2_Silent_p.G943G|PARD3_uc010qen.2_Silent_p.G913G|PARD3_uc010qeo.2_Silent_p.G913G|PARD3_uc001ixo.2_Silent_p.G672G|PARD3_uc001ixr.2_Silent_p.G956G|PARD3_uc001ixq.2_Silent_p.G913G|PARD3_uc001ixp.2_Silent_p.G925G|PARD3_uc001ixt.1_Silent_p.G777G|PARD3_uc001ixu.2_Silent_p.G901G|PARD3_uc001ixs.1_Silent_p.G582G NM_019619 NP_062565 Q8TEW0 PARD3_HUMAN Homo sapiens par-3 partitioning defective 3 homolog (C. elegans) (PARD3), transcript variant 1, mRNA. 959 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 63 Breast(68;0.0707) CAGACTCTCTCCCTGATCTTG 0.398000 52 36 0 0 0.006999 0 0 NOB1 28987 broad.mit.edu 37 16 69788587 69788587 + Nonsense_Mutation SNP C A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr16:69788587C>A uc002exs.3 - 1 122 c.106G>T c.(106-108)Gag>Tag p.E36* NM_014062 NP_054781 Q9ULX3 NOB1_HUMAN Homo sapiens NIN1/RPN12 binding protein 1 homolog (S. cerevisiae) (NOB1), mRNA. 36 PINc. nucleus metal ion binding|protein binding breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 TCCCGAATCTCAGTGACCACC 0.632000 22 20 1.9806e-07 2.08007e-07 0.014323 1 0 RREB1 6239 broad.mit.edu 37 6 7231902 7231902 + Silent SNP C G G TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:7231902C>G uc003mxb.3 + 9 4062 c.3570C>G c.(3568-3570)acC>acG p.T1190T RREB1_uc021yky.1_Silent_p.T1190T|RREB1_uc003mxc.3_Silent_p.T1190T|RREB1_uc010jnx.3_Silent_p.T1190T|RREB1_uc021ykz.1_Silent_p.T1190T|RREB1_uc021yla.1_Intron NM_001003699 NP_001003699 Q92766 RREB1_HUMAN Homo sapiens ras responsive element binding protein 1 (RREB1), transcript variant 1, mRNA. 1190 Ras protein signal transduction|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding p.T1190A(1) breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) CCACAGACACCAACAAGTTCA 0.642000 23 10 0 0 0.008291 0 0 USHBP1 83878 broad.mit.edu 37 19 17373466 17373466 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:17373466C>T uc002nfs.1 - 3 650 c.537G>A c.(535-537)agG>agA p.R179R USHBP1_uc002nft.1_Non-coding_Transcript|USHBP1_uc010xpk.1_Silent_p.R115R|USHBP1_uc010eam.1_Silent_p.R107R NM_031941 NP_114147 Q8N6Y0 USBP1_HUMAN Homo sapiens Usher syndrome 1C binding protein 1 (USHBP1), mRNA. 179 PDZ domain binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 44 GCCAGGCATTCCTCTCGGCCA 0.662000 40 30 0 0 0.010818 0 0 OR4C13 283092 broad.mit.edu 37 11 49974618 49974618 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:49974618C>T uc010rhz.2 + 0 676 c.644C>T c.(643-645)tCc>tTc p.S215F NM_001001955 NP_001001955 Q8NGP0 OR4CD_HUMAN Homo sapiens olfactory receptor, family 4, subfamily C, member 13 (OR4C13), mRNA. 215 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S215F(2) autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 43 CTCCTGGTCTCCTGCGTGGTC 0.488000 52 42 0 0 0.010771 0 0 TRIM42 287015 broad.mit.edu 37 3 140401461 140401461 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:140401461G>A uc003eto.2 + 1 705 c.499G>A c.(499-501)Gag>Aag p.E167K NM_152616 NP_689829 Q8IWZ5 TRI42_HUMAN Homo sapiens tripartite motif containing 42 (TRIM42), mRNA. 167 intracellular zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 CAGCCTGTGCGAGAAGTGCCT 0.602000 65 49 0 0 0.014410 0 0 TTLL2 83887 broad.mit.edu 37 6 167754748 167754748 + Missense_Mutation SNP C T T rs148357898 TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:167754748C>T uc003qvs.1 + 2 1448 c.1360C>T c.(1360-1362)Cct>Tct p.P454S NM_031949 NP_114155 Q9BWV7 TTLL2_HUMAN Homo sapiens tubulin tyrosine ligase-like family, member 2 (TTLL2), mRNA. 454 protein modification process ATP binding|tubulin-tyrosine ligase activity central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(66;7.8e-06)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) TGACTGTCTTCCTTATGATTC 0.493000 38 26 0 0 0.004656 0 0 POP4 10775 broad.mit.edu 37 19 30104870 30104870 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:30104870C>T uc002nsf.2 + 5 573 c.517C>T c.(517-519)Cgc>Tgc p.R173C POP4_uc002nsg.2_Missense_Mutation_p.R92C NM_006627 NP_006618 O95707 RPP29_HUMAN Homo sapiens processing of precursor 4, ribonuclease P/MRP subunit (S. cerevisiae) (POP4), transcript variant 1, mRNA. 173 mRNA cleavage|rRNA processing|tRNA processing nucleolar ribonuclease P complex|ribonuclease MRP complex RNA binding|identical protein binding|ribonuclease P activity p.R173H(1) breast(1)|endometrium(1)|lung(4) 6 Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239) UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225) CAAAGAAGACCGCCTGAAAGG 0.453000 13 16 0 0 0.004990 0 0 HCRTR2 3062 broad.mit.edu 37 6 55039512 55039512 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:55039512C>T uc003pcl.3 + 0 442 c.127C>T c.(127-129)Ctg>Ttg p.L43L HCRTR2_uc010jzv.3_Non-coding_Transcript|HCRTR2_uc010jzu.1_Non-coding_Transcript NM_001526 NP_001517 O43614 OX2R_HUMAN Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA. 43 feeding behavior integral to plasma membrane neuropeptide receptor activity breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) CCTGCGGTACCTGTGGAGGGA 0.542000 44 40 0 0 0.005524 0 0 ZDHHC13 54503 broad.mit.edu 37 11 19197388 19197388 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:19197388C>T uc001mpi.3 + 16 1855 c.1750C>T c.(1750-1752)Ctg>Ttg p.L584L ZDHHC13_uc001mpj.3_Silent_p.L454L NM_019028 NP_001001483 Q8IUH4 ZDH13_HUMAN Homo sapiens zinc finger, DHHC-type containing 13 (ZDHHC13), transcript variant 1, mRNA. 584 positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi-associated vesicle membrane|integral to membrane magnesium ion transmembrane transporter activity|palmitoyltransferase activity|signal transducer activity|zinc ion binding NS(1)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 6 CATGCAGAACCTGGCAGATTT 0.418000 46 32 0 0 0.010818 0 0 DHX29 54505 broad.mit.edu 37 5 54566425 54566425 + Nonsense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr5:54566425G>A uc003jpx.3 - 18 3094 c.2974C>T c.(2974-2976)Cga>Tga p.R992* DHX29_uc010ivw.3_Non-coding_Transcript NM_019030 NP_061903 Q7Z478 DHX29_HUMAN Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 29 (DHX29), mRNA. 992 Helicase C-terminal. ATP binding|ATP-dependent helicase activity|translation initiation factor activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2) 46 Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183) GTGTACATTCGGAAACAGAAG 0.423000 57 4 0 0 0.001984 0 0 AOX1 316 broad.mit.edu 37 2 201523929 201523929 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:201523929C>T uc002uvx.3 + 27 3314 c.3213C>T c.(3211-3213)caC>caT p.H1071H AOX1_uc010zhf.2_Silent_p.H627H|AOX1_uc010fsu.3_Silent_p.H437H NM_001159 NP_001150 Q06278 ADO_HUMAN Homo sapiens aldehyde oxidase 1 (AOX1), mRNA. 1071 inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|NAD binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|xanthine dehydrogenase activity breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 81 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) CGAATGTCCACCTGCGTGGAA 0.443000 29 26 0 0 0.003330 0 0 MYH1 4619 broad.mit.edu 37 17 10408543 10408543 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:10408543C>T uc002gmo.3 - 20 2466 c.2372G>A c.(2371-2373)cGa>cAa p.R791Q AK097500_uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA. 791 IQ. muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 GGCCTGGGTTCGGGTAATCAG 0.458000 32 21 0 0 0.012319 0 0 SEC16B 89866 broad.mit.edu 37 1 177915597 177915597 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:177915597G>A uc001glj.1 - 18 2602 c.1736C>T c.(1735-1737)aCc>aTc p.T579I SEC16B_uc001glk.1_Missense_Mutation_p.T255I|SEC16B_uc009wwy.1_Missense_Mutation_p.T133I|SEC16B_uc001glh.1_Missense_Mutation_p.T237I|SEC16B_uc001gli.1_Missense_Mutation_p.T578I|SEC16B_uc009wwz.1_Missense_Mutation_p.T237I|SEC16B_uc001gll.4_Missense_Mutation_p.T579I NM_033127 NP_149118 Q96JE7 SC16B_HUMAN Homo sapiens SEC16 homolog B (S. cerevisiae) (SEC16B), mRNA. 578 protein transport|vesicle-mediated transport Golgi membrane|endoplasmic reticulum membrane central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1) 35 TGTCTTCACGGTGTAGTGGCC 0.547000 OREG0014008 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 7 0 0 0.003080 0 0 TMPRSS11E 28983 broad.mit.edu 37 4 69342107 69342107 + Missense_Mutation SNP A C C TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr4:69342107A>C uc003hdz.4 + 6 722 c.658A>C c.(658-660)Acc>Ccc p.T220P NM_014058 NP_054777 Q9UL52 TM11E_HUMAN Homo sapiens transmembrane protease, serine 11E (TMPRSS11E), mRNA. 220 Peptidase S1. proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity p.T220T(1) endometrium(1)|lung(19)|pancreas(1)|skin(3) 24 CTGTGGAGCAACCTTAATTAA 0.502000 60 27 0 0 0.008361 0 0 ME1 4199 broad.mit.edu 37 6 84025054 84025054 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:84025054C>T uc003pjy.3 - 5 944 c.679G>A c.(679-681)Gaa>Aaa p.E227K ME1_uc011dzb.2_Missense_Mutation_p.E152K|ME1_uc011dzc.2_Missense_Mutation_p.E61K NM_002395 NP_002386 P48163 MAOX_HUMAN Homo sapiens malic enzyme 1, NADP(+)-dependent, cytosolic (ME1), mRNA. 227 NADP biosynthetic process|carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|response to carbohydrate stimulus|response to hormone stimulus cytosol ADP binding|NAD binding|NADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding p.D226D(1) NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218) BRCA - Breast invasive adenocarcinoma(397;0.0641) NADH(DB00157) TCCATGAATTCGTCCAAAAAA 0.303000 43 22 0 0 0.005443 0 0 OR13C2 392376 broad.mit.edu 37 9 107367090 107367090 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr9:107367090C>T uc011lvq.2 - 0 819 c.819G>A c.(817-819)ttG>ttA p.L273L NM_001004481 NP_001004481 Q8NGS9 O13C2_HUMAN Homo sapiens olfactory receptor, family 13, subfamily C, member 2 (OR13C2), mRNA. 273 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 22 CGGTAGCATCCAAGTCATCCG 0.418000 59 38 0 0 0.008740 0 0 C6orf165 154313 broad.mit.edu 37 6 88173777 88173777 + Missense_Mutation SNP G A A rs146287743 TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:88173777G>A uc003plv.3 + 12 1801 c.1678G>A c.(1678-1680)Gat>Aat p.D560N SLC35A1_uc003plx.3_Non-coding_Transcript|C6orf165_uc003plw.3_Missense_Mutation_p.D372N|C6orf165_uc010kbv.2_Non-coding_Transcript NM_001031743 NP_001026913 Q8IYR0 CF165_HUMAN Homo sapiens chromosome 6 open reading frame 165 (C6orf165), mRNA. 560 NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0419) AGTACAAACTGATCTTAGTCA 0.413000 27 16 0 0 0.006122 0 0 MYO18A 399687 broad.mit.edu 37 17 27437624 27437624 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:27437624G>A uc002hdt.1 - 17 3075 c.2917C>T c.(2917-2919)Ctg>Ttg p.L973L MYO18A_uc010wbc.1_Silent_p.L515L|MYO18A_uc002hds.2_Silent_p.L515L|MYO18A_uc010csa.1_Silent_p.L973L|MYO18A_uc002hdu.1_Silent_p.L973L|MYO18A_uc010wbd.1_Silent_p.L642L NM_078471 NP_510880 Q92614 MY18A_HUMAN Homo sapiens myosin XVIIIA (MYO18A), transcript variant 1, mRNA. 973 Myosin head-like. DNA metabolic process|anti-apoptosis ER-Golgi intermediate compartment|myosin complex ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2) 36 Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) CCCAGAAACAGGTTGCTGATG 0.652000 12 13 0 0 0.002450 0 0 ILDR2 387597 broad.mit.edu 37 1 166927321 166927321 + Nonsense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:166927321G>A uc001gdx.2 - 1 120 c.64C>T c.(64-66)Cag>Tag p.Q22* NM_199351 NP_955383 Q71H61 ILDR2_HUMAN Homo sapiens immunoglobulin-like domain containing receptor 2 (ILDR2), mRNA. 22 Ig-like V-type. integral to membrane NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 22 ACTGTGACCTGAAGGCCTTCG 0.517000 71 43 0 0 0.008740 0 0 ZNF839 55778 broad.mit.edu 37 14 102793131 102793131 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr14:102793131C>T uc010awk.1 + 1 1105 c.1098C>T c.(1096-1098)agC>agT p.S366S ZNF839_uc001ylo.2_Silent_p.S250S|ZNF839_uc001ylp.2_Non-coding_Transcript|ZNF839_uc001ylq.1_Silent_p.S250S|ZNF839_uc001ylr.2_Silent_p.S250S NM_018335 NP_060805 A8K0R7 ZN839_HUMAN Homo sapiens zinc finger protein 839 (ZNF839), mRNA. 250 intracellular zinc ion binding breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 19 GGACGCTCAGCCTGACCTCCC 0.637000 4 12 0 0 0.013537 0 0 LRRC15 131578 broad.mit.edu 37 3 194081166 194081166 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:194081166G>A uc003ftt.3 - 2 750 c.625C>T c.(625-627)Cgg>Tgg p.R209W LRRC15_uc003ftu.3_Missense_Mutation_p.R203W|LRRC15_uc021xiy.1_Missense_Mutation_p.R203W NM_001135057 NP_570843 Q8TF66 LRC15_HUMAN Homo sapiens leucine rich repeat containing 15 (LRRC15), transcript variant 1, mRNA. 203 integral to membrane biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.94e-05) TCATACAGCCGGAGGACCTGG 0.562000 93 95 0 0 0.014410 0 0 SNX19 399979 broad.mit.edu 37 11 130781612 130781612 + Missense_Mutation SNP G T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:130781612G>T uc001qgk.4 - 1 2277 c.1729C>A c.(1729-1731)Cac>Aac p.H577N SNX19_uc010sce.2_5'UTR|SNX19_uc010scf.2_Missense_Mutation_p.H20N|SNX19_uc010scg.2_5'UTR|SNX19_uc001qgl.3_Missense_Mutation_p.H577N|SNX19_uc009zcx.1_Non-coding_Transcript NM_014758 NP_055573 Q92543 SNX19_HUMAN Homo sapiens sorting nexin 19 (SNX19), mRNA. 577 PX. cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding|protein binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1) 35 all_hematologic(175;0.0597) Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425) OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233) TTCACAGTGTGGTAGGCCAGC 0.507000 46 22 8.04996e-18 8.58515e-18 0.012319 1 0 ACAD10 80724 broad.mit.edu 37 12 112182701 112182701 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:112182701G>A uc009zvx.3 + 13 2262 c.2062G>A c.(2062-2064)Gag>Aag p.E688K ACAD10_uc001tsp.3_Missense_Mutation_p.E657K|ACAD10_uc001tsq.3_Missense_Mutation_p.E657K|ACAD10_uc001tss.1_Non-coding_Transcript NM_001136538 NP_001130010 Q6JQN1 ACD10_HUMAN Homo sapiens acyl-CoA dehydrogenase family, member 10 (ACAD10), transcript variant 1, mRNA. 657 H -> R (in Ref. 2; BAC03869). acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups 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 TATCTCTCCAGAGAGCCTCTC 0.587000 38 29 0 0 0.006320 0 0 TBXAS1 6916 broad.mit.edu 37 7 139661886 139661886 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr7:139661886G>A uc011kqv.2 + 9 1364 c.1129G>A c.(1129-1131)Gag>Aag p.E377K TBXAS1_uc003vvh.3_Missense_Mutation_p.E331K|TBXAS1_uc010lne.3_Missense_Mutation_p.E263K|TBXAS1_uc011kqu.2_Missense_Mutation_p.E282K|TBXAS1_uc003vvi.3_Missense_Mutation_p.E331K|TBXAS1_uc011kqw.2_Missense_Mutation_p.E311K|TBXAS1_uc003vvj.3_Missense_Mutation_p.E331K NM_001166253 NP_001159725 P24557 THAS_HUMAN Homo sapiens thromboxane A synthase 1 (platelet) (TBXAS1), transcript variant 4, mRNA. 330 hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 Melanoma(164;0.0142) GACTGTGGATGAGATTGTGGG 0.542000 19 12 0 0 0.013537 0 0 NID1 4811 broad.mit.edu 37 1 236212001 236212001 + Nonsense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:236212001G>A uc001hxo.3 - 1 616 c.514C>T c.(514-516)Cag>Tag p.Q172* NID1_uc009xgd.3_Nonsense_Mutation_p.Q172* NM_002508 NP_002499 P14543 NID1_HUMAN Homo sapiens nidogen 1 (NID1), mRNA. 172 NIDO. cell-matrix adhesion basement membrane calcium ion binding p.Q172*(2) breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1) 66 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) TTGCCTTTCTGGTCTGGGTCC 0.562000 22 14 0 0 0.001855 0 0 CRH 1392 broad.mit.edu 37 8 67089270 67089270 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr8:67089270G>A uc022avj.1 - 0 443 c.443C>T c.(442-444)cCg>cTg p.P148L CRH_uc003xvy.2_Missense_Mutation_p.P148L NM_000756 NP_000747 P06850 CRF_HUMAN Homo sapiens corticotropin releasing hormone (CRH), mRNA. 148 female pregnancy|negative regulation of circadian sleep/wake cycle, REM sleep|parturition|positive regulation of circadian sleep/wake cycle, wakefulness|positive regulation of cortisol secretion|signal transduction|synaptic transmission extracellular region|soluble fraction neuropeptide hormone activity breast(1)|endometrium(1)|lung(2)|urinary_tract(1) 5 all_cancers(86;2.58e-06)|all_epithelial(80;6.27e-09)|all_lung(136;0.000414)|Lung NSC(129;0.0011) Epithelial(68;0.0136)|all cancers(69;0.0507)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904) Corticotropin(DB01285) TTCTCTCTCCGGTGCCTCCTG 0.677000 OREG0018805 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 3 0 0 0.009096 0 0 SLC2A10 81031 broad.mit.edu 37 20 45354326 45354326 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr20:45354326C>T uc002xsl.3 + 1 748 c.651C>T c.(649-651)tcC>tcT p.S217S NM_030777 NP_110404 O95528 GTR10_HUMAN Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 10 (SLC2A10), mRNA. 217 endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 34 Myeloproliferative disorder(115;0.0122) CACGGTACTCCTTTCTGGACC 0.632000 53 44 0 0 0.011902 0 0 PARP4 143 broad.mit.edu 37 13 25008897 25008897 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr13:25008897G>A uc001upl.3 - 30 4488 c.4382C>T c.(4381-4383)cCt>cTt p.P1461L NM_006437 NP_006428 Q9UKK3 PARP4_HUMAN Homo sapiens poly (ADP-ribose) polymerase family, member 4 (PARP4), mRNA. 1461 DNA repair|cell death|inflammatory response|protein ADP-ribosylation|response to drug|transport cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule DNA binding|NAD+ ADP-ribosyltransferase activity|enzyme binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195) AAAATGAAAAGGAGAGGAAGC 0.517000 20 5 0 0 0.000602 0 0 EHD3 30845 broad.mit.edu 37 2 31483665 31483665 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:31483665C>T uc002rnu.3 + 3 1400 c.792C>T c.(790-792)atC>atT p.I264I EHD3_uc010ymt.2_Intron NM_014600 NP_055415 Q9NZN3 EHD3_HUMAN Homo sapiens EH-domain containing 3 (EHD3), mRNA. 264 blood coagulation|endocytic recycling|protein homooligomerization nucleus|plasma membrane|recycling endosome membrane ATP binding|GTP binding|GTPase activity|calcium ion binding|nucleic acid binding|protein binding NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3) 33 Acute lymphoblastic leukemia(172;0.155) CCCTCCTCATCCCTGACAACC 0.597000 35 27 0 0 0.005443 0 0 USP4 7375 broad.mit.edu 37 3 49348150 49348150 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:49348150G>A uc003cwq.2 - 7 936 c.857C>T c.(856-858)tCg>tTg p.S286L USP4_uc003cwp.2_Missense_Mutation_p.S16L|USP4_uc003cwr.2_Missense_Mutation_p.S239L NM_003363 NP_003354 Q13107 UBP4_HUMAN Homo sapiens ubiquitin specific peptidase 4 (proto-oncogene) (USP4), transcript variant 1, mRNA. 286 negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process lysosome|nucleus adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121) OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05) ACAATTATACGAAGCAGAAAA 0.468000 20 22 0 0 0.002780 0 0 ZSCAN20 7579 broad.mit.edu 37 1 33960610 33960610 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:33960610C>T uc001bxj.4 + 7 2833 c.2666C>T c.(2665-2667)gCc>gTc p.A889V ZSCAN20_uc009vui.3_Missense_Mutation_p.A888V NM_145238 NP_660281 P17040 ZSC20_HUMAN Homo sapiens zinc finger and SCAN domain containing 20 (ZSCAN20), mRNA. 889 viral reproduction mitochondrion|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) AAGAGCTCTGCCCTCATTAGT 0.468000 12 127 0 0 0.014410 0 0 TJP3 27134 broad.mit.edu 37 19 3738999 3738999 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:3738999G>A uc010xhv.2 + 11 1597 c.1597G>A c.(1597-1599)Gac>Aac p.D533N TJP3_uc010xhs.2_Missense_Mutation_p.D500N|TJP3_uc010xht.2_Missense_Mutation_p.D464N|TJP3_uc010xhu.2_Missense_Mutation_p.D509N|TJP3_uc010xhw.2_Missense_Mutation_p.D519N NM_014428 NP_055243 O95049 ZO3_HUMAN Homo sapiens tight junction protein 3 (zona occludens 3) (TJP3), mRNA. 514 SH3. tight junction protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 26 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18) CACCCGTGGCGACGTCTTCCA 0.672000 44 38 0 0 0.005524 0 0 KRT40 125115 broad.mit.edu 37 17 39140424 39140424 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:39140424G>A uc010cxh.1 - 2 263 c.102C>T c.(100-102)ctC>ctT p.L34L KRT40_uc002hvq.1_Non-coding_Transcript NM_182497 NP_872303 Q6A162 K1C40_HUMAN Homo sapiens keratin 40 (KRT40), mRNA. 34 Head. intermediate filament structural molecule activity endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 9 Breast(137;0.00043) AGGTACCGGGGAGACAAGCTG 0.577000 19 24 0 0 0.003954 0 0 LHFPL4 375323 broad.mit.edu 37 3 9594046 9594046 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:9594046G>A uc003bry.3 - 1 604 c.318C>T c.(316-318)atC>atT p.I106I NM_198560 NP_940962 Q7Z7J7 LHPL4_HUMAN Homo sapiens lipoma HMGIC fusion partner-like 4 (LHFPL4), mRNA. 106 integral to membrane endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1) 10 Medulloblastoma(99;0.227) TGCAGCCGAGGATCAGCACCA 0.612000 OREG0005683 type=TRANSCRIPTION FACTOR BINDING SITE|Gene=LHFPL4|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS) 25 22 0 0 0.003954 0 0 TG 7038 broad.mit.edu 37 8 133899155 133899155 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr8:133899155G>A uc003ytw.3 + 8 1579 c.1538G>A c.(1537-1539)gGg>gAg p.G513E NM_003235 NP_003226 P01266 THYG_HUMAN Homo sapiens thyroglobulin (TG), mRNA. 513 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) TTGAATGGAGGGAGACAAGAA 0.448000 36 24 0 0 0.002780 0 0 PLCB4 5332 broad.mit.edu 37 20 9417698 9417698 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr20:9417698G>A uc021wam.1 + 25 2642 c.2627G>A c.(2626-2628)gGa>gAa p.G876E PLCB4_uc010gbw.1_Missense_Mutation_p.G876E|PLCB4_uc010gbx.3_Missense_Mutation_p.G888E|PLCB4_uc021wal.1_Missense_Mutation_p.G876E|PLCB4_uc002wnh.3_Missense_Mutation_p.G723E NM_000933 NP_000924 Q15147 PLCB4_HUMAN Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA. 876 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 GACAAGAAAGGAAAGGCCAAC 0.498000 20 16 0 0 0.004007 0 0 PIKFYVE 200576 broad.mit.edu 37 2 209190482 209190482 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:209190482C>T uc002vcz.3 + 19 3105 c.2947C>T c.(2947-2949)Cct>Tct p.P983S PIKFYVE_uc010fun.1_Missense_Mutation_p.P664S|PIKFYVE_uc002vcy.1_Missense_Mutation_p.P927S NM_015040 NP_055855 Q9Y2I7 FYV1_HUMAN Homo sapiens phosphoinositide kinase, FYVE finger containing (PIKFYVE), transcript variant 2, mRNA. 983 cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 107 GTTGCCACTCCCTGTGGATGA 0.512000 31 21 0 0 0.003330 0 0 TRPV6 55503 broad.mit.edu 37 7 142583159 142583159 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr7:142583159C>T uc003wbx.2 - 0 332 c.103G>A c.(103-105)Gag>Aag p.E35K NM_018646 NP_061116 Q9H1D0 TRPV6_HUMAN Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA. 35 regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 42 Melanoma(164;0.059) AGGTTCTGCTCATCTCGGCTC 0.607000 48 37 0 0 0.009718 0 0 BC043541 0 broad.mit.edu 37 1 43353113 43353113 + RNA SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:43353113G>A uc001cij.1 + 3 c.1015G>A Homo sapiens cDNA clone IMAGE:5170739. GCTTGAGGATGAAGTTCCTGC 0.667000 5 26 0 0 0.003954 0 0 BACH2 60468 broad.mit.edu 37 6 90642343 90642343 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:90642343C>T uc011eab.2 - 8 3184 c.2310G>A c.(2308-2310)ttG>ttA p.L770L BACH2_uc003pnw.3_Silent_p.L770L NM_021813 NP_068585 Q9BYV9 BACH2_HUMAN Homo sapiens BTB and CNC homology 1, basic leucine zipper transcription factor 2 (BACH2), transcript variant 1, mRNA. 770 nucleus protein dimerization activity|sequence-specific DNA binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 45 all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063) BRCA - Breast invasive adenocarcinoma(108;0.0799) CGCCTGGCTCCAAGCAGCAGG 0.642000 37 40 0 0 0.005524 0 0 ANO5 203859 broad.mit.edu 37 11 22257768 22257768 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:22257768G>A uc001mqi.2 + 7 1025 c.708G>A c.(706-708)ggG>ggA p.G236G ANO5_uc001mqj.2_Silent_p.G235G NM_213599 NP_998764 Q75V66 ANO5_HUMAN Homo sapiens anoctamin 5 (ANO5), transcript variant 1, mRNA. 236 chloride channel complex|endoplasmic reticulum membrane chloride channel activity breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 AAAGGTTTGGGATTGAAAGAC 0.388000 24 18 0 0 0.003954 0 0 APOB 338 broad.mit.edu 37 2 21229594 21229594 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:21229594C>T uc002red.3 - 25 10274 c.10146G>A c.(10144-10146)gaG>gaA p.E3382E NM_000384 NP_000375 P04114 APOB_HUMAN Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA. 3382 LDL receptor binding. cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity p.L3381S(1) NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TTGTGGTGCCCTCTAATTTGT 0.413000 369 248 0 0 0.014410 0 0 FAM135A 57579 broad.mit.edu 37 6 71246050 71246050 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:71246050C>T uc003pfj.3 + 16 4186 c.4053C>T c.(4051-4053)acC>acT p.T1351T FAM135A_uc003pfi.3_Silent_p.T1155T|FAM135A_uc003pfh.3_Silent_p.T1138T|FAM135A_uc003pfl.3_Silent_p.T1018T|FAM135A_uc003pfn.3_Silent_p.T557T|FAM135A_uc003pfo.1_Silent_p.T722T|FAM135A_uc010kan.2_Silent_p.T130T NM_001162529 NP_001156001 Q9P2D6 F135A_HUMAN Homo sapiens family with sequence similarity 135, member A (FAM135A), transcript variant 3, mRNA. 1351 breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 38 AACTTCATACCTTTCTGTCTC 0.348000 34 17 0 0 0.008871 0 0 OR5H15 403274 broad.mit.edu 37 3 97888259 97888259 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:97888259C>T uc011bgu.2 + 0 716 c.716C>T c.(715-717)tCc>tTc p.S239F NM_001005515 NP_001005515 A6NDH6 O5H15_HUMAN Homo sapiens olfactory receptor, family 5, subfamily H, member 15 (OR5H15), mRNA. 239 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1) 35 AAAGCCTTTTCCACCTGTGGA 0.413000 36 24 0 0 0.003330 0 0 OR51T1 401665 broad.mit.edu 37 11 4903218 4903218 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:4903218C>T uc010qyp.2 + 0 170 c.170C>T c.(169-171)tCc>tTc p.S57F NM_001004759 NP_001004759 Q8NGJ9 O51T1_HUMAN Homo sapiens olfactory receptor, family 51, subfamily T, member 1 (OR51T1), mRNA. 30 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) GTCTGGATCTCCATTCCAGTC 0.453000 65 44 0 0 0.014410 0 0 PBRM1 55193 broad.mit.edu 37 3 52620643 52620643 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:52620643C>T uc003des.2 - 19 3197 c.3185G>A c.(3184-3186)cGg>cAg p.R1062Q PBRM1_uc003dex.2_Non-coding_Transcript|PBRM1_uc003deq.2_Missense_Mutation_p.R1062Q|PBRM1_uc003der.2_Missense_Mutation_p.R1030Q|PBRM1_uc003det.2_Missense_Mutation_p.R1077Q|PBRM1_uc003deu.2_Missense_Mutation_p.R1077Q|PBRM1_uc003dev.2_Non-coding_Transcript|PBRM1_uc003dew.2_Missense_Mutation_p.R1062Q|PBRM1_uc010hmk.1_Missense_Mutation_p.R1037Q|PBRM1_uc003dey.2_Missense_Mutation_p.R1037Q|PBRM1_uc003dez.1_Missense_Mutation_p.R1061Q|PBRM1_uc003dfb.1_Missense_Mutation_p.R974Q|PBRM1_uc003dfa.1_Missense_Mutation_p.R408Q NM_181042 NP_060635 Q86U86 PB1_HUMAN Homo sapiens polybromo 1 (PBRM1), transcript variant 4, mRNA. 1062 BAH 1. chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome DNA binding|chromatin binding|protein binding breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1) 335 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) GGCAGAATACCGTGATTCACA 0.448000 """Mis, N, F, S, D, O""" """clear cell renal carcinoma, breast""" 34 25 0 0 0.003330 0 0 FOLH1B 219595 broad.mit.edu 37 11 89421805 89421805 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:89421805G>A uc001pda.3 + 9 1188 c.662G>A c.(661-663)gGa>gAa p.G221E NM_153696 NP_710163 Q9HBA9 FOH1B_HUMAN Homo sapiens folate hydrolase 1B (FOLH1B), mRNA. 221 proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 CAACGACTTGGAATTGCTTCA 0.299000 67 60 0 0 0.014410 0 0 KIF14 9928 broad.mit.edu 37 1 200550410 200550410 + Missense_Mutation SNP C A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:200550410C>A uc010ppk.1 - 19 3693 c.3254G>T c.(3253-3255)tGg>tTg p.W1085L KIF14_uc010ppj.1_Missense_Mutation_p.W594L NM_014875 NP_055690 Q15058 KIF14_HUMAN Homo sapiens kinesin family member 14 (KIF14), mRNA. 1085 Required for CIT-binding. microtubule-based movement cytoplasm|microtubule|nucleus|spindle ATP binding|microtubule motor activity|protein binding NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 61 CATAGAGCTCCAAGTTGTCTG 0.333000 37 36 8.16904e-11 8.64133e-11 0.007835 1 0 SYT16 83851 broad.mit.edu 37 14 62536415 62536415 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr14:62536415G>A uc001xfu.1 + 1 815 c.618G>A c.(616-618)caG>caA p.Q206Q SYT16_uc010tsd.1_Silent_p.Q206Q NM_031914 NP_114120 Q17RD7 SYT16_HUMAN Homo sapiens synaptotagmin XVI (SYT16), mRNA. 206 central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118) CCCGGTCCCAGAGTTTCCGTT 0.493000 66 49 0 0 0.014410 0 0 TPSD1 23430 broad.mit.edu 37 16 1306943 1306943 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr16:1306943C>T uc002clb.1 + 2 409 c.400C>T c.(400-402)Ctg>Ttg p.L134L TPSD1_uc010brm.1_Silent_p.L63L NM_012217 NP_036349 Q9BZJ3 TRYD_HUMAN Homo sapiens tryptase delta 1 (TPSD1), mRNA. 134 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3) 20 Hepatocellular(780;0.00369) CCTGCTGGAGCTGGAGGAGCC 0.652000 15 18 0 0 0.007413 0 0 RBM41 55285 broad.mit.edu 37 X 106312492 106312492 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chrX:106312492G>A uc004emz.3 - 5 1122 c.1068C>T c.(1066-1068)acC>acT p.T356T RBM41_uc004emy.2_Silent_p.T356T NM_018301 NP_060771 Q96IZ5 RBM41_HUMAN Homo sapiens RNA binding motif protein 41 (RBM41), transcript variant 1, mRNA. 356 RRM. RNA binding|nucleotide binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 13 TACTGGGAAAGGTGATAAAAG 0.423000 6 30 0 0 0.009535 0 0 TFB1M 51106 broad.mit.edu 37 6 155618167 155618167 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:155618167C>T uc003qqj.4 - 3 521 c.466G>A c.(466-468)Gaa>Aaa p.E156K TFB1M_uc003qqk.3_Intron NM_016020 NP_057104 Q8WVM0 TFB1M_HUMAN Homo sapiens transcription factor B1, mitochondrial (TFB1M), nuclear gene encoding mitochondrial protein, mRNA. 156 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial nucleoid DNA binding|protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131) GAAATATTTTCAAGCCACTTG 0.368000 22 21 0 0 0.003330 0 0 CRTAC1 55118 broad.mit.edu 37 10 99661391 99661391 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr10:99661391G>A uc001kou.2 - 7 1358 c.1002C>T c.(1000-1002)atC>atT p.I334I CRTAC1_uc001kov.3_Silent_p.I334I|CRTAC1_uc001kot.2_Silent_p.I124I NM_018058 NP_060528 Q9NQ79 CRAC1_HUMAN Homo sapiens cartilage acidic protein 1 (CRTAC1), transcript variant 1, mRNA. 334 proteinaceous extracellular matrix calcium ion binding autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 35 Colorectal(252;0.24) Epithelial(162;2.18e-10)|all cancers(201;3.27e-09) TGGGTGAGGCGATGTCCTGGA 0.572000 16 21 0 0 0.014323 0 0 ZNF823 55552 broad.mit.edu 37 19 11832982 11832982 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:11832982G>A uc002msm.2 - 3 1493 c.1367C>T c.(1366-1368)tCt>tTt p.S456F ZNF823_uc010xmd.1_Missense_Mutation_p.S274F|ZNF823_uc010dyi.1_Missense_Mutation_p.S412F NM_001080493 NP_001073962 P16415 ZN823_HUMAN Homo sapiens zinc finger protein 823 (ZNF823), mRNA. 456 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4) 26 TTGAAAGGAAGAGAGATCACT 0.423000 HNSCC(68;0.2) 40 30 0 0 0.007291 0 0 RASL12 51285 broad.mit.edu 37 15 65350917 65350917 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr15:65350917G>A uc002aoi.1 - 3 488 c.273C>T c.(271-273)gcC>gcT p.A91A RASL12_uc002aoj.1_Silent_p.A72A|RASL12_uc010uir.1_Silent_p.A80A NM_016563 NP_057647 Q9NYN1 RASLC_HUMAN Homo sapiens RAS-like, family 12 (RASL12), mRNA. 91 small GTPase mediated signal transduction membrane GTP binding|GTPase activity lung(1)|ovary(1)|skin(1)|urinary_tract(1) 4 GGAAGGCATGGGCCCAGTTCA 0.632000 31 17 0 0 0.004007 0 0 ST6GALNAC2 10610 broad.mit.edu 37 17 74562237 74562237 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:74562237G>A uc002jsg.4 - 8 1329 c.1074C>T c.(1072-1074)gcC>gcT p.A358A NM_006456 NP_006447 Q9UJ37 SIA7B_HUMAN Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 (ST6GALNAC2), mRNA. 358 protein glycosylation integral to Golgi membrane sialyltransferase activity NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 11 CCCTCCACAGGGCAGCTTCCA 0.507000 37 47 0 0 0.014410 0 0 TP53I13 90313 broad.mit.edu 37 17 27899364 27899364 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:27899364C>T uc002hee.3 + 5 756 c.718C>T c.(718-720)Cct>Tct p.P240S NM_138349 NP_612358 Q8NBR0 P5I13_HUMAN Homo sapiens tumor protein p53 inducible protein 13 (TP53I13), mRNA. 240 cytoplasm|integral to membrane|plasma membrane NS(1)|kidney(1)|lung(1)|urinary_tract(1) 4 READ - Rectum adenocarcinoma(3;0.236) GGCGGGAATCCCTGGTAGGGA 0.657000 31 28 0 0 0.009535 0 0 SNAP91 9892 broad.mit.edu 37 6 84290235 84290235 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:84290235G>A uc021zcf.1 - 22 2263 c.2233C>T c.(2233-2235)Cct>Tct p.P745S SNAP91_uc011dzd.2_Missense_Mutation_p.P243S|SNAP91_uc003pka.3_Missense_Mutation_p.P743S|SNAP91_uc011dze.2_Missense_Mutation_p.P743S|SNAP91_uc003pkc.3_Missense_Mutation_p.P715S|SNAP91_uc003pkd.3_Missense_Mutation_p.P438S|SNAP91_uc003pkb.3_Missense_Mutation_p.P654S NM_014841 NP_055656 O60641 AP180_HUMAN Homo sapiens synaptosomal-associated protein, 91kDa homolog (mouse) (SNAP91), transcript variant 1, mRNA. 745 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) GCCATTGCAGGACTGGGTGGT 0.453000 56 36 0 0 0.006999 0 0 PCNX 22990 broad.mit.edu 37 14 71444066 71444066 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr14:71444066G>A uc001xmo.2 + 5 1458 c.1012G>A c.(1012-1014)Gaa>Aaa p.E338K PCNX_uc001xmn.4_Missense_Mutation_p.E338K|PCNX_uc010are.1_Missense_Mutation_p.E338K NM_014982 NP_055797 Q96RV3 PCX1_HUMAN Homo sapiens pecanex homolog (Drosophila) (PCNX), mRNA. 338 integral to membrane NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1) 87 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) TTTATCTGGGGAATTTCAGCT 0.423000 36 29 0 0 0.008361 0 0 PCLO 27445 broad.mit.edu 37 7 82579028 82579028 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr7:82579028G>A uc003uhx.2 - 5 11165 c.10876C>T c.(10876-10878)Ccc>Tcc p.P3626S PCLO_uc003uhv.2_Missense_Mutation_p.P3626S|PCLO_uc010lec.3_Missense_Mutation_p.P591S NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 3557 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity p.P3626P(1) breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GGTGAGATGGGTGAGTAAAGG 0.483000 62 56 0 0 0.014410 0 0 LRRC49 54839 broad.mit.edu 37 15 71256138 71256138 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr15:71256138C>T uc010ukf.2 + 8 1109 c.803C>T c.(802-804)tCc>tTc p.S268F LRRC49_uc002asu.3_Missense_Mutation_p.S253F|LRRC49_uc002asx.3_Missense_Mutation_p.S219F|LRRC49_uc002asw.3_Missense_Mutation_p.S263F|LRRC49_uc002asy.3_5'UTR|LRRC49_uc002asz.3_Missense_Mutation_p.S235F NM_001199017 NP_001185946 Q8IUZ0 LRC49_HUMAN Homo sapiens leucine rich repeat containing 49 (LRRC49), transcript variant 1, mRNA. 263 cytoplasm|microtubule breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3) 34 GACAGTGTTTCCTGCCTTGCT 0.403000 107 97 0 0 0.014410 0 0 FAT3 120114 broad.mit.edu 37 11 92523341 92523341 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:92523341G>A uc001pdj.4 + 6 4585 c.4568G>A c.(4567-4569)aGg>aAg p.R1523K NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA. 1523 Cadherin 14. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) ACTGCCGAGAGGCTGGACCAT 0.498000 TCGA Ovarian(4;0.039) 295 157 0 0 0.014410 0 0 NXPH1 30010 broad.mit.edu 37 7 8790861 8790861 + Missense_Mutation SNP A G G TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr7:8790861A>G uc003srv.3 + 2 1189 c.278A>G c.(277-279)aAc>aGc p.N93S NXPH1_uc011jxh.2_5'UTR NM_152745 NP_689958 P58417 NXPH1_HUMAN Homo sapiens neurexophilin 1 (NXPH1), mRNA. 93 II. extracellular region breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1) 17 Ovarian(82;0.0628) UCEC - Uterine corpus endometrioid carcinoma (126;0.101) TGGCTGAGGAACTCCACAGAC 0.483000 42 35 0 0 0.013726 0 0 IL20RA 53832 broad.mit.edu 37 6 137329796 137329796 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:137329796C>T uc003qhj.3 - 4 1097 c.664G>A c.(664-666)Gtc>Atc p.V222I IL20RA_uc011edl.2_Missense_Mutation_p.V173I|IL20RA_uc003qhk.3_Missense_Mutation_p.V111I|IL20RA_uc003qhi.3_5'UTR NM_014432 NP_055247 Q9UHF4 I20RA_HUMAN Homo sapiens interleukin 20 receptor, alpha (IL20RA), mRNA. 222 Fibronectin type-III 2. integral to membrane receptor activity NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459) GGCCCTGGGACGAAGGACTCC 0.542000 56 37 0 0 0.004878 0 0 OR51L1 119682 broad.mit.edu 37 11 5020353 5020353 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:5020353C>T uc010qyu.2 + 0 141 c.141C>T c.(139-141)atC>atT p.I47I NM_001004755 NP_001004755 Q8NGJ5 O51L1_HUMAN Homo sapiens olfactory receptor, family 51, subfamily L, member 1 (OR51L1), mRNA. 47 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1) 31 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) ATGTTACCATCCTGTCTGTCA 0.433000 61 57 0 0 0.014410 0 0 MYH3 4621 broad.mit.edu 37 17 10533745 10533745 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:10533745C>T uc002gmq.2 - 36 5405 c.5317G>A c.(5317-5319)Gag>Aag p.E1773K NM_002470 NP_002461 P11055 MYH3_HUMAN Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA. 1773 muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|microfilament motor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 83 GTGTCCTGCTCCTTCTTCAGC 0.577000 65 24 0 0 0.002780 0 0 LAMA2 3908 broad.mit.edu 37 6 129766889 129766889 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:129766889G>A uc021zfb.1 + 44 6457 c.6352G>A c.(6352-6354)Gaa>Aaa p.E2118K LAMA2_uc003qbn.3_Missense_Mutation_p.E2116K|LAMA2_uc003qbo.3_Missense_Mutation_p.E2116K NM_000426 NP_000417 P24043 LAMA2_HUMAN Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA. 2118 Domain II and I. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) ACCCATCAAGGAACTTGAGGA 0.378000 19 15 0 0 0.002450 0 0 OR5T1 390155 broad.mit.edu 37 11 56043337 56043337 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:56043337C>T uc001nio.1 + 0 223 c.223C>T c.(223-225)Ctt>Ttt p.L75F NM_001004745 NP_001004745 Q8NG75 OR5T1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily T, member 1 (OR5T1), mRNA. 75 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 43 Esophageal squamous(21;0.00448) GTACTATTTTCTTGGTGTTTT 0.353000 27 20 0 0 0.008871 0 0 TTBK2 146057 broad.mit.edu 37 15 43045282 43045283 + Missense_Mutation DNP GG AT AT TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr15:43045282_43045283GG>AT uc001zqo.2 - 13 2600_2601 c.2161_2162CC>AT c.(2161-2163)cct>ATt p.P721I TTBK2_uc010bcy.2_Missense_Mutation_p.P652I NM_173500 NP_775771 Q6IQ55 TTBK2_HUMAN Homo sapiens tau tubulin kinase 2 (TTBK2), mRNA. 721 cell death ATP binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2) 43 all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;3.23e-07) TCCACTAGGAGGTTCACCCTCT 0.465000 91 53 0 0 0.004672 0 0 OR5AU1 390445 broad.mit.edu 37 14 21623849 21623849 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr14:21623849G>A uc010tlp.2 - 0 336 c.336C>T c.(334-336)tcC>tcT p.S112S NM_001004731 NP_001004731 Q8NGC0 O5AU1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily AU, member 1 (OR5AU1), mRNA. 112 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1) 21 all_cancers(95;0.00238) Epithelial(56;6.88e-07)|all cancers(55;6.02e-06) GBM - Glioblastoma multiforme(265;0.0192) TCTTCAGGAGGGAGTACATGG 0.542000 31 24 0 0 0.002780 0 0 BCAN 63827 broad.mit.edu 37 1 156621460 156621460 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:156621460G>A uc001fpp.3 + 6 1612 c.1276G>A c.(1276-1278)Gag>Aag p.E426K BCAN_uc001fpo.3_Missense_Mutation_p.E426K NM_021948 NP_068767 Q96GW7 PGCB_HUMAN Homo sapiens brevican (BCAN), transcript variant 1, mRNA. 426 Glu-rich. cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 55 all_hematologic(923;0.088)|Hepatocellular(266;0.158) AGACCCAGCAGAGGCCCCTAG 0.562000 61 56 0 0 0.014410 0 0 ALOXE3 59344 broad.mit.edu 37 17 8006749 8006749 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:8006749G>A uc002gka.3 - 13 2347 c.2316C>T c.(2314-2316)acC>acT p.T772T ALOXE3_uc010cnr.3_Silent_p.T616T|ALOXE3_uc010vuo.2_Silent_p.T748T NM_021628 NP_067641 Q9BYJ1 LOXE3_HUMAN Homo sapiens arachidonate lipoxygenase 3 (ALOXE3), transcript variant 2, mRNA. 616 leukotriene biosynthetic process iron ion binding|lipoxygenase activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4) 31 TGGTCCCCTTGGTCTGGGGTG 0.572000 36 41 0 0 0.006999 0 0 LOC100130331 100130331 broad.mit.edu 37 1 238090756 238090756 + RNA SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:238090756G>A uc010pyc.2 + 11 c.2262G>A Homo sapiens POTE ankyrin domain family, member F pseudogene (LOC100130331), non-coding RNA. CCCAGCGGGAGATCATGCCCC 0.607000 5 5 0 0 0.000602 0 0 FOCAD 54914 broad.mit.edu 37 9 20874701 20874701 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr9:20874701C>T uc003zog.1 + 20 2575 c.2212C>T c.(2212-2214)Cct>Tct p.P738S FOCAD_uc003zoh.1_Missense_Mutation_p.P174S NM_017794 NP_060264 Q5VW36 K1797_HUMAN Homo sapiens KIAA1797 (KIAA1797), mRNA. 738 integral to membrane binding p.P738A(1) AATTCCCATTCCTGAAGAGTT 0.368000 11 45 0 0 0.010771 0 0 SPDYE5 442590 broad.mit.edu 37 7 75130755 75130755 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr7:75130755G>A uc011kfy.2 + 4 841 c.705G>A c.(703-705)ggG>ggA p.G235G DQ601342_uc022agh.1_5'Flank NM_001099435 NP_001092905 A6NIY4 SPDE5_HUMAN Homo sapiens speedy homolog E5 (Xenopus laevis) (SPDYE5), mRNA. 235 TCCTGTATGGGAAGAACCGCT 0.552000 112 85 0 0 0.014410 0 0 SCN1A 6323 broad.mit.edu 37 2 166929996 166929996 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:166929996C>T uc002udo.4 - 2 363 c.136G>A c.(136-138)Gaa>Aaa p.E46K SCN1A_uc010fpk.3_Missense_Mutation_p.E46K|SCN1A_uc021vsb.1_Missense_Mutation_p.E46K NM_001202435 NP_001189364 P35498 SCN1A_HUMAN Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA. 46 voltage-gated sodium channel complex voltage-gated sodium channel activity p.D45D(1) NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) GGGCCATTTTCGTCGTCATCT 0.448000 98 69 0 0 0.014410 0 0 FPGT-TNNI3K 100526835 broad.mit.edu 37 1 74905264 74905264 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:74905264G>A uc001dge.2 + 21 2339 c.2272G>A c.(2272-2274)Gaa>Aaa p.E758K FPGT-TNNI3K_uc001dgd.3_Missense_Mutation_p.E758K|FPGT-TNNI3K_uc001dgf.2_Missense_Mutation_p.E657K NM_001112808 NP_001106279 Q59H18 TNI3K_HUMAN Homo sapiens FPGT-TNNI3K readthrough (FPGT-TNNI3K), transcript variant 1, mRNA. 657 cytoplasm|nucleus ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding GTGTCTGTGGGAAATTCTCAC 0.458000 6 61 0 0 0.014410 0 0 SCN10A 6336 broad.mit.edu 37 3 38739366 38739366 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:38739366C>T uc003ciq.3 - 26 5345 c.5345G>A c.(5344-5346)cGa>cAa p.R1782Q NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA. 1782 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) CAGTATATTTCGATTGGGTTT 0.473000 32 19 0 0 0.006122 0 0 HAO2 51179 broad.mit.edu 37 1 119929351 119929351 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:119929351G>A uc001ehr.1 + 4 800 c.668G>A c.(667-669)gGg>gAg p.G223E HAO2_uc001ehq.1_Missense_Mutation_p.G223E NM_016527 NP_057611 Q9NYQ3 HAOX2_HUMAN Homo sapiens hydroxyacid oxidase 2 (long chain) (HAO2), transcript variant 1, mRNA. 223 FMN hydroxy acid dehydrogenase. fatty acid alpha-oxidation peroxisome (S)-2-hydroxy-acid oxidase activity breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 30 all_neural(166;0.187) all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284) Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856) ATCCTGAAAGGGATTTTGACA 0.458000 9 88 0 0 0.014410 0 0 FAM177B 400823 broad.mit.edu 37 1 222920392 222920392 + Nonsense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:222920392G>A uc001hnt.3 + 3 476 c.210G>A c.(208-210)tgG>tgA p.W70* AK094916_uc001hnr.1_Intron|FAM177B_uc009xeb.3_Non-coding_Transcript NM_207468 NP_997351 A6PVY3 F177B_HUMAN Homo sapiens family with sequence similarity 177, member B (FAM177B), mRNA. 70 breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|stomach(1) 8 TACGATTTTGGGCAGGACGAA 0.373000 39 31 0 0 0.003271 0 0 AMPH 273 broad.mit.edu 37 7 38424445 38424445 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr7:38424445C>T uc003tgu.3 - 20 2278 c.2062G>A c.(2062-2064)Gag>Aag p.E688K AMPH_uc003tgv.3_Missense_Mutation_p.E646K|AMPH_uc003tgt.3_Missense_Mutation_p.E573K NM_001635 NP_001626 P49418 AMPH_HUMAN Homo sapiens amphiphysin (AMPH), transcript variant 1, mRNA. 688 SH3. endocytosis|synaptic transmission actin cytoskeleton|cell junction|synaptic vesicle membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2) 62 GTGAAGTTCTCTGGAAAGAGG 0.468000 54 38 0 0 0.008740 0 0 OR14C36 127066 broad.mit.edu 37 1 248512159 248512159 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:248512159C>T uc010pzl.2 + 0 83 c.83C>T c.(82-84)tCc>tTc p.S28F NM_001001918 NP_001001918 Q8NHC7 O14CZ_HUMAN Homo sapiens olfactory receptor, family 14, subfamily C, member 36 (OR14C36), mRNA. 28 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2) 43 CATTCTGCATCCTTCTTTATG 0.443000 54 37 0 0 0.006230 0 0 NBPF1 55672 broad.mit.edu 37 1 16918441 16918441 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:16918441G>A uc009vos.1 - 6 964 c.76C>T c.(76-78)Ccc>Tcc p.P26S NBPF1_uc010oce.1_Intron NM_017940 NP_060410 Q3BBV0 NBPF1_HUMAN Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA. 26 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) GCCAGCTGGGGGCGCAATTTC 0.498000 763 139 0 0 0.014410 0 0 TIMELESS 8914 broad.mit.edu 37 12 56822793 56822793 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:56822793G>A uc001slf.2 - 10 1346 c.1178C>T c.(1177-1179)tCc>tTc p.S393F TIMELESS_uc001slg.2_Missense_Mutation_p.S392F NM_003920 NP_003911 Q9UNS1 TIM_HUMAN Homo sapiens timeless homolog (Drosophila) (TIMELESS), mRNA. 393 cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent nuclear chromatin NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 49 TGGCCGGAAGGAGGCAGCTCG 0.522000 34 27 0 0 0.005443 0 0 SNPH 9751 broad.mit.edu 37 20 1285634 1285634 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr20:1285634G>A uc002wet.3 + 6 1234 c.553G>A c.(553-555)Gag>Aag p.E185K SNPH_uc002wes.3_Missense_Mutation_p.E141K NM_014723 NP_055538 O15079 SNPH_HUMAN Homo sapiens syntaphilin (SNPH), mRNA. 141 synaptic vesicle docking involved in exocytosis cell junction|integral to membrane|synapse|synaptosome syntaxin-1 binding endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 GGCCCGAAAGGAGATCAAGCA 0.557000 65 35 0 0 0.006230 0 0 NLRP5 126206 broad.mit.edu 37 19 56515139 56515139 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:56515139C>T uc002qmj.3 + 1 120 c.120C>T c.(118-120)ttC>ttT p.F40F NLRP5_uc002qmi.3_Silent_p.F40F NM_153447 NP_703148 P59047 NALP5_HUMAN Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA. 40 mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) ATCCACTTTTCCCCCAAAACC 0.438000 58 45 0 0 0.013114 0 0 E4F1 1877 broad.mit.edu 37 16 2282530 2282530 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr16:2282530C>T uc002cpm.3 + 4 731 c.683C>T c.(682-684)tCc>tTc p.S228F E4F1_uc010bsi.3_Missense_Mutation_p.S228F|E4F1_uc010bsj.3_Missense_Mutation_p.S228F NM_004424 NP_004415 Q66K89 E4F1_HUMAN Homo sapiens E4F transcription factor 1 (E4F1), mRNA. 228 Mediates dimerization, DNA-binding, transcription repression of CCNA2 and interaction with HMGA2. cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth cytoplasm|nucleoplasm DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(1) 1 TGTGGGGCCTCCTTCCGCACC 0.692000 13 17 0 0 0.006122 0 0 SLC4A9 83697 broad.mit.edu 37 5 139741433 139741433 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr5:139741433C>T uc003lfm.2 + 3 653 c.618C>T c.(616-618)gcC>gcT p.A206A SLC4A9_uc003lfj.2_Silent_p.A182A|SLC4A9_uc011czg.1_Silent_p.A182A|SLC4A9_uc003lfl.2_Silent_p.A182A|SLC4A9_uc003lfk.2_Silent_p.A182A NM_031467 NP_113655 Q96Q91 B3A4_HUMAN Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 9 (SLC4A9), mRNA. 206 integral to membrane|plasma membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATGAGGAAGCCCCCCTGAGGG 0.502000 11 64 0 0 0.014410 0 0 HIST2H2BF 440689 broad.mit.edu 37 1 149783702 149783702 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:149783702G>A uc010pbk.2 - 0 227 c.177C>T c.(175-177)gcC>gcT p.A59A HIST2H2BF_uc010pbj.2_Silent_p.A59A|HIST2H2BF_uc001esr.3_Silent_p.A59A NM_001024599 NP_001019770 Q5QNW6 H2B2F_HUMAN Homo sapiens histone cluster 2, H2bf (HIST2H2BF), transcript variant 1, mRNA. 59 nucleosome assembly nucleosome|nucleus DNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Breast(34;0.0124)|all_hematologic(923;0.127) TGATGCCCATGGCCTTGGACG 0.607000 102 72 0 0 0.014410 0 0 SEC14L1 6397 broad.mit.edu 37 17 75196569 75196569 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:75196569C>T uc010dhc.3 + 8 1143 c.823C>T c.(823-825)Cca>Tca p.P275S SEC14L1_uc021udv.1_Missense_Mutation_p.P275S|SEC14L1_uc021udw.1_Missense_Mutation_p.P275S|SEC14L1_uc021udx.1_Missense_Mutation_p.P275S|SEC14L1_uc002jto.3_Missense_Mutation_p.P275S|SEC14L1_uc010wth.2_Missense_Mutation_p.P275S|SEC14L1_uc002jtm.3_Missense_Mutation_p.P275S|SEC14L1_uc010wti.2_Missense_Mutation_p.P241S NM_001039573 NP_001191337 Q92503 S14L1_HUMAN Homo sapiens SEC14-like 1 (S. cerevisiae) (SEC14L1), transcript variant 2, mRNA. 275 transport Golgi apparatus|integral to membrane binding NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2) 31 TTAATAGATTCCAAAAGATGA 0.433000 46 27 0 0 0.006320 0 0 MTNR1A 4543 broad.mit.edu 37 4 187454892 187454892 + Missense_Mutation SNP G A A rs150190540 TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr4:187454892G>A uc003izd.1 - 1 1022 c.1004C>T c.(1003-1005)cCg>cTg p.P335L NM_005958 NP_005949 P48039 MTR1A_HUMAN Homo sapiens melatonin receptor 1A (MTNR1A), mRNA. 335 G-protein signaling, coupled to cyclic nucleotide second messenger|circadian rhythm|mating behavior integral to plasma membrane melatonin receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 14 all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159) Melatonin(DB01065)|Ramelteon(DB00980) CAGTGGAGACGGTTTCCATTT 0.493000 56 42 0 0 0.009718 0 0 FKBP5 2289 broad.mit.edu 37 6 35610510 35610510 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:35610510C>T uc011dte.1 - 1 295 c.92G>A c.(91-93)aGg>aAg p.R31K FKBP5_uc003okx.2_Missense_Mutation_p.R31K|FKBP5_uc011dtf.1_Intron|FKBP5_uc003oky.2_Missense_Mutation_p.R31K|FKBP5_uc003okz.2_Missense_Mutation_p.R31K NM_001145776 NP_004108 Q13451 FKBP5_HUMAN Homo sapiens FK506 binding protein 5 (FKBP5), transcript variant 3, mRNA. 31 protein folding cytoplasm|membrane|nucleus FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2) 17 TAATACTCCCCTGTCTTTTTT 0.468000 66 52 0 0 0.014410 0 0 TTN 7273 broad.mit.edu 37 2 179427187 179427187 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:179427187C>T uc021vsy.1 - 274 76193 c.75968G>A c.(75967-75969)gGt>gAt p.G25323D MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G19018D|TTN_uc021vta.1_Missense_Mutation_p.G18951D|TTN_uc021vtb.1_Missense_Mutation_p.G18826D NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 26250 Ig-like 124. 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) TTTGCTGCCACCATCACTTTC 0.433000 34 24 0 0 0.002780 0 0 KIR2DL2 3803 broad.mit.edu 37 GL000209.1 71175 71175 + Splice_Site SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chrGL000209.1:71175G>A uc002qui.2 + 2 81 c.70_splice c.e2+1 p.G24_splice KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc010yic.2_Splice_Site_p.G21_splice|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc010evg.1_Splice_Site_p.G24_splice|KIR2DL2_uc010evh.1_Intron|KIR2DL2_uc021vdb.1_Intron|KIR2DL2_uc010yie.2_Intron NM_001083539 NP_001077008 P43627 KI2L2_HUMAN Homo sapiens killer cell immunoglobulin-like receptor, three domains, short cytoplasmic tail, 1 (KIR3DS1), mRNA. 24 regulation of immune response integral to membrane|plasma membrane receptor activity GTCCACACATGGGTGAGTCCT 0.542000 52 19 0 0 0.014410 0 0 KLK10 5655 broad.mit.edu 37 19 51518160 51518160 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:51518160G>A uc002pva.3 - 5 847 c.727C>T c.(727-729)Ctc>Ttc p.L243F KLK10_uc002puy.3_Missense_Mutation_p.L243F|KLK10_uc002puz.3_Missense_Mutation_p.L243F NM_001077500 NP_665895 O43240 KLK10_HUMAN Homo sapiens kallikrein-related peptidase 10 (KLK10), transcript variant 3, mRNA. 243 Peptidase S1. cell cycle|proteolysis extracellular region serine-type endopeptidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1) 13 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885) CCCCACGAGAGGATGCCTTGG 0.542000 32 27 0 0 0.006320 0 0 GPR32 2854 broad.mit.edu 37 19 51274067 51274067 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:51274067C>T uc010ycf.2 + 0 210 c.210C>T c.(208-210)ttC>ttT p.F70F NM_001506 NP_001497 O75388 GPR32_HUMAN Homo sapiens G protein-coupled receptor 32 (GPR32), mRNA. 70 integral to plasma membrane N-formyl peptide receptor activity breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028) TGACTGTCTTCCGTATGGCAC 0.572000 32 29 0 0 0.003755 0 0 HYDIN 54768 broad.mit.edu 37 16 71012907 71012907 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr16:71012907C>T uc002ezr.3 - 29 4696 c.4545G>A c.(4543-4545)agG>agA p.R1515R NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA. 1516 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) CTGTGTTTTTCCTGGCTTGAT 0.433000 31 14 0 0 0.010504 0 0 DEF6 50619 broad.mit.edu 37 6 35265704 35265704 + Missense_Mutation SNP G C C TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:35265704G>C uc003okk.3 + 0 110 c.71G>C c.(70-72)gGc>gCc p.G24A DEF6_uc010jvs.3_Missense_Mutation_p.G24A|DEF6_uc010jvt.3_5'UTR NM_022047 NP_071330 Q9H4E7 DEFI6_HUMAN Homo sapiens differentially expressed in FDCP 6 homolog (mouse) (DEF6), mRNA. 24 cytoplasm|nucleus|plasma membrane cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2) 15 GAGAAGAGTGGCAAAGTCTCC 0.687000 4 13 0 0 0.004007 0 0 CNGA3 1261 broad.mit.edu 37 2 99012478 99012478 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:99012478C>T uc010fij.3 + 7 998 c.857C>T c.(856-858)tCc>tTc p.S286F CNGA3_uc002syt.3_Missense_Mutation_p.S282F|CNGA3_uc002syu.3_Missense_Mutation_p.S264F Q16281 CNGA3_HUMAN Homo sapiens cyclic nucleotide gated channel alpha 3 (CNGA3), transcript variant 1, mRNA. 282 signal transduction|visual perception integral to membrane cGMP binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3) 49 CTGAAGTTTTCCCGGCTCTTT 0.488000 21 19 0 0 0.007413 0 0 GPR98 84059 broad.mit.edu 37 5 89953983 89953983 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr5:89953983C>T uc003kju.3 + 20 4736 c.4640C>T c.(4639-4641)tCt>tTt p.S1547F GPR98_uc003kjt.3_5'UTR NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA. 1547 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) AAACTAGTTTCTGTATATGGA 0.363000 5 31 0 0 0.008361 0 0 KCNH7 90134 broad.mit.edu 37 2 163241346 163241346 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:163241346G>A uc002uch.2 - 12 3043 c.2814C>T c.(2812-2814)atC>atT p.I938I NM_033272 NP_150375 Q9NS40 KCNH7_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA. 938 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) CAATGGAGGAGATGAAAGATG 0.413000 63 50 0 0 0.014410 0 0 STK33 65975 broad.mit.edu 37 11 8486289 8486289 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:8486289C>T uc001mgi.1 - 2 1339 c.420G>A c.(418-420)acG>acA p.T140T STK33_uc001mgj.1_Silent_p.T140T|STK33_uc001mgk.1_Silent_p.T140T|STK33_uc010rbn.1_Silent_p.T99T|STK33_uc001mgl.3_5'UTR|STK33_uc009yfp.3_Intron NM_030906 NP_112168 Q9BYT3 STK33_HUMAN Homo sapiens serine/threonine kinase 33 (STK33), mRNA. 140 Protein kinase. Golgi apparatus|nucleus|perinuclear region of cytoplasm ATP binding|protein serine/threonine kinase activity p.T140M(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3) 23 Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239) TTGCCCACTTCGTTTCTGTTT 0.413000 40 32 0 0 0.003271 0 0 LMOD2 442721 broad.mit.edu 37 7 123296126 123296126 + Silent SNP T C C TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr7:123296126T>C uc003vky.2 + 0 266 c.109T>C c.(109-111)Ttg>Ctg p.L37L NM_207163 NP_997046 Q6P5Q4 LMOD2_HUMAN Homo sapiens leiomodin 2 (cardiac) (LMOD2), mRNA. 37 Glu-rich.|Tropomyosin-binding (By similarity). cytoskeleton actin binding|tropomyosin binding AGAGAGAGAGTTGGAAGACAT 0.537000 14 14 0 0 0.004007 0 0 FLNC 2318 broad.mit.edu 37 7 128478071 128478071 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr7:128478071C>T uc003vnz.4 + 5 1209 c.1000C>T c.(1000-1002)Cgc>Tgc p.R334C FLNC_uc003voa.4_Missense_Mutation_p.R334C NM_001458 NP_001449 Q14315 FLNC_HUMAN Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA. 334 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 TGACAAGGATCGCACCTATGC 0.537000 38 24 0 0 0.005443 0 0 TAOK2 9344 broad.mit.edu 37 16 30002663 30002663 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr16:30002663C>T uc002dvc.2 + 18 3741 c.2924C>T c.(2923-2925)cCc>cTc p.P975L BOLA2_uc010bzb.1_Intron NM_004783 NP_004774 Q9UL54 TAOK2_HUMAN Homo sapiens TAO kinase 2 (TAOK2), transcript variant 2, mRNA. 864 Leu-rich. actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1) 22 CTGCTGGCTCCCCCAGGCCCC 0.716000 10 10 0 0 0.010729 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113518493 113518493 + Missense_Mutation SNP A G G TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr7:113518493A>G uc010ljy.1 - 3 2685 c.2654T>C c.(2653-2655)gTt>gCt p.V885A NM_002711 NP_002702 Q16821 PPR3A_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA. 885 glycogen metabolic process integral to membrane NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 TAATTCTTGAACCTGCCTAAG 0.358000 28 22 0 0 0.012319 0 0 KCNC1 3746 broad.mit.edu 37 11 17793727 17793727 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:17793727G>A uc009yhc.1 + 1 1141 c.1086G>A c.(1084-1086)atG>atA p.M362I KCNC1_uc001mnk.4_Missense_Mutation_p.M362I NM_001112741 NP_001106212 P48547 KCNC1_HUMAN Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 1 (KCNC1), transcript variant A, mRNA. 362 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 33 TCGCCACCATGATCTACTACG 0.622000 25 23 0 0 0.012319 0 0 SMCHD1 23347 broad.mit.edu 37 18 2718389 2718389 + Silent SNP A T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr18:2718389A>T uc002klm.4 + 18 2604 c.2415A>T c.(2413-2415)gcA>gcT p.A805A SMCHD1_uc002klk.4_Non-coding_Transcript|SMCHD1_uc002kll.4_Non-coding_Transcript NM_015295 NP_056110 A6NHR9 SMHD1_HUMAN Homo sapiens structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1), mRNA. 805 chromosome organization ATP binding NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1) 45 ACACTTATGCAGGAAGACCAC 0.289000 36 28 0 0 0.009535 0 0 MUC16 94025 broad.mit.edu 37 19 9077809 9077809 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:9077809C>T uc002mkp.3 - 2 9841 c.9637G>A c.(9637-9639)Gaa>Aaa p.E3213K NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 3214 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 ATGCTGGGTTCCTTGGAGCTC 0.478000 97 78 0 0 0.014410 0 0 KCNB2 9312 broad.mit.edu 37 8 73848639 73848639 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr8:73848639C>T uc003xzb.3 + 2 1637 c.1049C>T c.(1048-1050)tCc>tTc p.S350F NM_004770 NP_004761 Q92953 KCNB2_HUMAN Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA. 350 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding p.F349L(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) ATGATATTTTCCAGCCTGGTA 0.473000 45 58 0 0 0.014410 0 0 IL5RA 3568 broad.mit.edu 37 3 3137086 3137086 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:3137086C>T uc011ask.2 - 8 1396 c.752G>A c.(751-753)gGa>gAa p.G251E IL5RA_uc010hbq.3_Intron|IL5RA_uc010hbr.3_Intron|IL5RA_uc010hbs.3_Missense_Mutation_p.G251E|IL5RA_uc011asl.2_Missense_Mutation_p.G251E|IL5RA_uc011asm.1_Missense_Mutation_p.G251E|IL5RA_uc010hbt.2_Missense_Mutation_p.G251E|IL5RA_uc011asn.1_Missense_Mutation_p.G251E|IL5RA_uc010hbu.2_Missense_Mutation_p.G251E NM_000564 NP_783853 Q01344 IL5RA_HUMAN Homo sapiens interleukin 5 receptor, alpha (IL5RA), transcript variant 1, mRNA. 251 cell proliferation extracellular space|integral to membrane|plasma membrane interleukin-5 receptor activity cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2) 24 Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944) GAGACGAGTTCCTTCAATCTC 0.358000 19 17 0 0 0.007413 0 0 MYL1 4632 broad.mit.edu 37 2 211163172 211163172 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:211163172C>T uc002vec.3 - 2 405 c.276G>A c.(274-276)agG>agA p.R92R MYL1_uc002veb.3_Silent_p.R48R NM_079420 NP_524144 P05976 MYL1_HUMAN Homo sapiens myosin, light chain 1, alkali; skeletal, fast (MYL1), transcript variant 1f, mRNA. 92 muscle filament sliding|muscle organ development cytosol|muscle myosin complex|sarcomere calcium ion binding|structural constituent of muscle breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1) 16 Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057) CCAGAACTTTCCTGACCTCTG 0.478000 69 43 0 0 0.014410 0 0 VPS26B 112936 broad.mit.edu 37 11 134113052 134113052 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:134113052C>T uc001qhe.3 + 3 1041 c.585C>T c.(583-585)ttC>ttT p.F195F NM_052875 NP_443107 Q4G0F5 VP26B_HUMAN Homo sapiens vacuolar protein sorting 26 homolog B (S. pombe) (VPS26B), mRNA. 195 protein transport|vacuolar transport cytosol|retromer complex breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7) 14 all_hematologic(175;0.127) all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216) AGATATACTTCCTGCTGGTGA 0.443000 31 19 0 0 0.014323 0 0 AADACL4 343066 broad.mit.edu 37 1 12711318 12711318 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:12711318C>T uc001auf.3 + 1 345 c.345C>T c.(343-345)atC>atT p.I115I NM_001013630 NP_001013652 Q5VUY2 ADCL4_HUMAN Homo sapiens arylacetamide deacetylase-like 4 (AADACL4), mRNA. 115 integral to membrane carboxylesterase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1) 17 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384) GGCGAGGCATCATCTTCTACC 0.577000 5 27 0 0 0.006320 0 0 SGMS1 259230 broad.mit.edu 37 10 52071152 52071152 + Silent SNP T C C TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr10:52071152T>C uc001jje.3 - 8 1719 c.765A>G c.(763-765)caA>caG p.Q255Q SGMS1_uc010qhk.2_Silent_p.Q86Q|SGMS1_uc009xot.1_Non-coding_Transcript|SGMS1_uc021pqn.1_Non-coding_Transcript|SGMS1_uc021pqo.1_Missense_Mutation_p.N216S NM_147156 NP_671512 Q86VZ5 SMS1_HUMAN Homo sapiens sphingomyelin synthase 1 (SGMS1), mRNA. 261 apoptosis|cell growth|sphingomyelin biosynthetic process Golgi trans cisterna|endoplasmic reticulum|integral to Golgi membrane|nucleus|plasma membrane ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 16 TTCTTCGCAGTTGGGCTTCCC 0.453000 13 19 0 0 0.007413 0 0 WDR96 80217 broad.mit.edu 37 10 105903397 105903397 + Splice_Site SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr10:105903397C>T uc001kxw.3 - 32 4061 c.3945_splice c.e32-1 p.R1315_splice WDR96_uc009xxq.3_Splice_Site_p.R594_splice NM_025145 NP_079421 Q8NDM7 WDR96_HUMAN Homo sapiens WD repeat domain 96 (WDR96), mRNA. 1315 p.R1315R(1) NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 GTTTGGAAATCCTGGTATTAC 0.418000 18 17 0 0 0.004007 0 0 TAX1BP1 8887 broad.mit.edu 37 7 27831771 27831771 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr7:27831771C>T uc003szl.3 + 8 1367 c.1185C>T c.(1183-1185)cgC>cgT p.R395R TAX1BP1_uc011jzo.2_Silent_p.R395R|TAX1BP1_uc003szk.3_Silent_p.R395R|TAX1BP1_uc011jzp.2_Silent_p.R238R NM_006024 NP_006015 Q86VP1 TAXB1_HUMAN Homo sapiens Tax1 (human T-cell leukemia virus type I) binding protein 1 (TAX1BP1), transcript variant 1, mRNA. 395 Oligomerization. anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production cytosol identical protein binding|kinase binding|zinc ion binding breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 GBM - Glioblastoma multiforme(3;0.0823) ATACTGCACGCTTGGAAAACG 0.413000 154 106 0 0 0.014410 0 0 TSSK6 83983 broad.mit.edu 37 19 19625545 19625545 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:19625545G>A uc002nmr.3 - 0 925 c.692C>T c.(691-693)cCc>cTc p.P231L TSSK6_uc002nmq.3_Non-coding_Transcript|YJEFN3_uc021uqu.1_5'Flank|YJEFN3_uc021uqv.1_5'Flank|YJEFN3_uc021uqw.1_5'Flank NM_032037 NP_114426 Q9BXA6 TSSK6_HUMAN Homo sapiens testis-specific serine kinase 6 (TSSK6), mRNA. 231 Protein kinase. multicellular organismal development|sperm chromatin condensation ATP binding|magnesium ion binding|protein serine/threonine kinase activity endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 16 GAGGCCTTCGGGATAGAGCAC 0.697000 44 23 0 0 0.003330 0 0 TLR3 7098 broad.mit.edu 37 4 187004218 187004218 + Missense_Mutation SNP G A A rs144550375 TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr4:187004218G>A uc003iyq.3 + 3 1479 c.1378G>A c.(1378-1380)Gaa>Aaa p.E460K TLR3_uc011ckz.2_Missense_Mutation_p.E183K|TLR3_uc003iyr.3_Missense_Mutation_p.E183K NM_003265 NP_003256 O15455 TLR3_HUMAN Homo sapiens toll-like receptor 3 (TLR3), mRNA. 460 I-kappaB phosphorylation|MyD88-independent toll-like receptor signaling pathway|activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|inflammatory response|innate immune response|negative regulation of osteoclast differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane double-stranded RNA binding|transmembrane receptor activity breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 29 all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16) AAATATTTTCGAAATCTATCT 0.473000 30 21 0 0 0.012319 0 0 LRRN4 164312 broad.mit.edu 37 20 6022301 6022301 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr20:6022301C>T uc002wmo.2 - 4 1814 c.1590G>A c.(1588-1590)gaG>gaA p.E530E NM_152611 NP_689824 Q8WUT4 LRRN4_HUMAN Homo sapiens leucine rich repeat neuronal 4 (LRRN4), mRNA. 530 Poly-Glu. integral to membrane breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2) 27 TCCCTTCCTCCTCCTCACTGT 0.637000 80 61 0 0 0.014410 0 0 PROS1 5627 broad.mit.edu 37 3 93615439 93615439 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:93615439G>A uc003drb.4 - 8 1287 c.946C>T c.(946-948)Cgt>Tgt p.R316C PROS1_uc010hoo.3_Missense_Mutation_p.R185C|PROS1_uc003dqz.4_Missense_Mutation_p.R185C NM_000313 NP_000304 P07225 PROS_HUMAN Homo sapiens protein S (alpha) (PROS1), mRNA. 316 Laminin G-like 1. leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis Golgi lumen|Golgi membrane|endoplasmic reticulum membrane|extracellular region|platelet alpha granule lumen calcium ion binding|endopeptidase inhibitor activity p.R316C(2) endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1) 46 Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170) TCTGGCAAACGAAATTTTAAA 0.408000 54 33 0 0 0.013726 0 0 POTEC 388468 broad.mit.edu 37 18 14543062 14543063 + Missense_Mutation DNP AA GC GC rs45469106 TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr18:14543062_14543063AA>GC uc010dln.3 - 0 537_538 c.83_84TT>GC c.(82-84)ttt>tGC p.F28C POTEC_uc010xaj.2_Non-coding_Transcript NM_001137671 NP_001131143 B2RU33 POTEC_HUMAN Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA. 28 F -> C (in dbSNP:rs45626231). NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 AGCGGTGGTGAAACCACTTGCC 0.550000 82 5 0 0 0.004672 0 0 RBM47 54502 broad.mit.edu 37 4 40427972 40427972 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr4:40427972G>A uc003gvc.2 - 6 2441 c.1731C>T c.(1729-1731)ttC>ttT p.F577F RBM47_uc003gvd.2_Silent_p.F508F|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Silent_p.F539F NM_001098634 NP_001092104 A0AV96 RBM47_HUMAN Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA. 577 Ala-rich. nucleus RNA binding|nucleotide binding breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 29 CAGCAGCAGGGAAGGCCTGAG 0.587000 35 34 0 0 0.013726 0 0 MGAT3 4248 broad.mit.edu 37 22 39884257 39884257 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr22:39884257C>T uc003axv.4 + 1 1144 c.905C>T c.(904-906)tCg>tTg p.S302L MGAT3_uc010gxy.3_Missense_Mutation_p.S302L NM_002409 NP_002400 Q09327 MGAT3_HUMAN Homo sapiens mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase (MGAT3), transcript variant 1, mRNA. 302 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity p.S302S(1) endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1) 24 Melanoma(58;0.04) GACGGCGTCTCGCGGCTGCGC 0.662000 53 56 0 0 0.014410 0 0 TRIM6-TRIM34 445372 broad.mit.edu 37 11 5625835 5625835 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:5625835C>T uc001mbf.3 + 2 842 c.579C>T c.(577-579)atC>atT p.I193I HBG1_uc001mak.1_Intron|TRIM6-TRIM34_uc009yeo.2_Silent_p.I139I|TRIM6-TRIM34_uc010qzj.2_5'UTR|TRIM6-TRIM34_uc001mbc.2_Silent_p.I165I|TRIM6-TRIM34_uc001mbe.3_5'UTR|TRIM6-TRIM34_uc001mbd.3_Silent_p.I193I|TRIM6-TRIM34_uc010qzk.2_5'UTR|TRIM6-TRIM34_uc010qzl.2_Intron|TRIM6-TRIM34_uc009yep.1_5'Flank NM_001003819 NP_067629 B2RNG4 B2RNG4_HUMAN Homo sapiens TRIM6-TRIM34 readthrough (TRIM6-TRIM34), mRNA. 193 intracellular zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1) 33 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145) CAGCTTTTATCAGAGAGAAGA 0.473000 49 36 0 0 0.003271 0 0 COL11A1 1301 broad.mit.edu 37 1 103491381 103491381 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:103491381G>A uc001dum.3 - 5 1226 c.908C>T c.(907-909)tCa>tTa p.S303L COL11A1_uc001duk.3_Intron|COL11A1_uc001dul.3_Intron|COL11A1_uc001dun.3_Intron|COL11A1_uc009weh.3_Intron NM_080629 NP_542196 P12107 COBA1_HUMAN Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA. 297 Nonhelical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) GGCTTTTGCTGATGCTTGATA 0.368000 74 44 0 0 0.008740 0 0 PML 5371 broad.mit.edu 37 15 74290467 74290467 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr15:74290467G>A uc002awv.3 + 1 392 c.252G>A c.(250-252)tcG>tcA p.S84S PML_uc002awj.1_Silent_p.S84S|PML_uc002awm.3_Silent_p.S84S|PML_uc002awl.3_Silent_p.S84S|PML_uc002awk.3_Silent_p.S84S|PML_uc002awn.3_Silent_p.S84S|PML_uc002awo.3_Silent_p.S84S|PML_uc002awp.3_Silent_p.S84S|PML_uc002awq.3_Silent_p.S84S|PML_uc002awr.3_Silent_p.S84S|PML_uc002aws.3_Silent_p.S84S|PML_uc002awt.3_Silent_p.S84S|PML_uc002awu.3_Silent_p.S84S|PML_uc010ule.2_Intron|PML_uc002aww.1_5'UTR NM_033238 NP_150241 P29590 PML_HUMAN Homo sapiens promyelocytic leukemia (PML), transcript variant 1, mRNA. 84 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|PML body organization|cell cycle arrest|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent PML body|cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus DNA binding|SUMO binding|cobalt ion binding|protein binding|protein heterodimerization activity|protein homodimerization activity|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding p.S84S(4) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 31 TGGAGGCGTCGGGCATGCAGT 0.642000 T """RARA, PAX5""" """APL, ALL""" 26 27 0 0 0.006320 0 0 PAPLN 89932 broad.mit.edu 37 14 73725746 73725746 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr14:73725746C>T uc010ttx.2 + 13 1850 c.1687C>T c.(1687-1689)Cct>Tct p.P563S PAPLN_uc001xnw.4_Missense_Mutation_p.P536S|PAPLN_uc010arl.3_Non-coding_Transcript|PAPLN_uc010ttw.2_Non-coding_Transcript|PAPLN_uc010tty.2_Missense_Mutation_p.P563S|PAPLN_uc010arm.3_5'Flank NM_173462 NP_775733 O95428 PPN_HUMAN Homo sapiens papilin, proteoglycan-like sulfated glycoprotein (PAPLN), mRNA. 563 proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3) 42 BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468) GCCGTTGGGCCCTCAGGAGTC 0.647000 19 18 0 0 0.006122 0 0 ARHGAP32 9743 broad.mit.edu 37 11 128842523 128842523 + Missense_Mutation SNP C A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:128842523C>A uc009zcp.3 - 20 3836 c.3836G>T c.(3835-3837)aGc>aTc p.S1279I ARHGAP32_uc009zcq.2_3'UTR|ARHGAP32_uc009zco.3_Missense_Mutation_p.S238I|ARHGAP32_uc001qez.3_Missense_Mutation_p.S930I NM_001142685 NP_055530 A7KAX9 RHG32_HUMAN Homo sapiens Rho GTPase activating protein 32 (ARHGAP32), transcript variant 1, mRNA. 1279 cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction Golgi membrane|cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3) 60 CACATCCCAGCTGGCTTCCTT 0.562000 84 28 1.2476e-16 1.32933e-16 0.006320 1 0 CACNB4 785 broad.mit.edu 37 2 152729006 152729006 + Splice_Site SNP T A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:152729006T>A uc002tya.3 - 6 590 c.522_splice c.e6-1 p.G174_splice CACNB4_uc002txy.3_Splice_Site_p.G140_splice|CACNB4_uc002txz.3_Splice_Site_p.G156_splice|CACNB4_uc010fnz.3_Splice_Site_p.G174_splice|CACNB4_uc021vre.1_Splice_Site_p.G140_splice|CACNB4_uc002tyb.2_Splice_Site_p.G140_splice NM_000726 NP_000717 O00305 CACB4_HUMAN Homo sapiens calcium channel, voltage-dependent, beta 4 subunit (CACNB4), transcript variant 2, mRNA. 174 axon guidance|membrane depolarization|synaptic transmission cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2) 11 BRCA - Breast invasive adenocarcinoma(221;0.156) Verapamil(DB00661) CCACTTGATTTCCTAGGATAT 0.383000 40 23 0 0 0.003330 0 0 ARGFX 503582 broad.mit.edu 37 3 121303784 121303784 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:121303784G>A uc003eef.3 + 3 336 c.241G>A c.(241-243)Gaa>Aaa p.E81K NM_001012659 NP_001012677 A6NJG6 ARGFX_HUMAN Homo sapiens arginine-fifty homeobox (ARGFX), mRNA. 81 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 15 GBM - Glioblastoma multiforme(114;0.152) AAGGCATAAAGAACGTACTTC 0.423000 92 68 0 0 0.014410 0 0 AHNAK2 113146 broad.mit.edu 37 14 105418242 105418242 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr14:105418242G>A uc010axc.1 - 6 3666 c.3546C>T c.(3544-3546)atC>atT p.I1182I AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.I1082I NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA. 1182 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CCGAGGCCTCGATGGACTTGC 0.597000 139 46 0 0 0.014410 0 0 CACNA2D3 55799 broad.mit.edu 37 3 55038833 55038833 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:55038833G>A uc003dhf.3 + 31 2782 c.2734G>A c.(2734-2736)Gaa>Aaa p.E912K CACNA2D3_uc003dhg.1_Missense_Mutation_p.E818K|CACNA2D3_uc003dhh.1_Non-coding_Transcript NM_018398 NP_060868 Q8IZS8 CA2D3_HUMAN Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA. 912 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3) 59 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) AGCCAACAAGGAAAGCAGCGA 0.458000 44 29 0 0 0.003271 0 0 CES3 23491 broad.mit.edu 37 16 67006373 67006373 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr16:67006373G>A uc002eqt.3 + 10 1485 c.1406G>A c.(1405-1407)gGa>gAa p.G469E CES3_uc010cdz.3_Missense_Mutation_p.G469E|CES3_uc010viw.2_Missense_Mutation_p.G108E NM_024922 NP_079198 Q6UWW8 EST3_HUMAN Homo sapiens carboxylesterase 3 (CES3), transcript variant 1, mRNA. 469 endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1) 24 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127) TTTGTGTTCGGAGGTCCCTTC 0.572000 74 50 0 0 0.014410 0 0 DAAM1 23002 broad.mit.edu 37 14 59798092 59798092 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr14:59798092C>T uc001xdz.1 + 13 1851 c.1726C>T c.(1726-1728)Cct>Tct p.P576S DAAM1_uc001xea.1_Missense_Mutation_p.P576S NM_014992 NP_055807 Q9Y4D1 DAAM1_HUMAN Homo sapiens dishevelled associated activator of morphogenesis 1 (DAAM1), mRNA. 576 FH1.|Pro-rich. actin cytoskeleton organization cytoplasm|plasma membrane Rho GTPase binding|actin binding p.P576P(1) breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(108;0.165) tggccctcctcctcccccAGG 0.632000 28 20 0 0 0.007413 0 0 BSN 8927 broad.mit.edu 37 3 49691891 49691891 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:49691891C>T uc003cxe.4 + 4 5016 c.4902C>T c.(4900-4902)gcC>gcT p.A1634A NM_003458 NP_003449 Q9UPA5 BSN_HUMAN Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA. 1634 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) GCTGGGGTGCCCTCCCTGCTG 0.657000 16 11 0 0 0.010729 0 0 ALPK3 57538 broad.mit.edu 37 15 85370756 85370756 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr15:85370756C>T uc002ble.3 + 2 997 c.830C>T c.(829-831)aCc>aTc p.T277I NM_020778 NP_065829 Q96L96 ALPK3_HUMAN Homo sapiens alpha-kinase 3 (ALPK3), mRNA. 277 heart development nucleus ATP binding|protein serine/threonine kinase activity NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 BRCA - Breast invasive adenocarcinoma(143;0.0587) ACAGAGGAGACCCAGCCGCTA 0.552000 31 20 0 0 0.007413 0 0 MGAM 8972 broad.mit.edu 37 7 141755449 141755449 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr7:141755449G>A uc003vwy.3 + 27 3460 c.3406G>A c.(3406-3408)Gaa>Aaa p.E1136K NM_004668 NP_004659 O43451 MGA_HUMAN Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA. 1136 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) TGGCTTTGGGGAAACTGAGCA 0.542000 60 46 0 0 0.014410 0 0 SLC38A10 124565 broad.mit.edu 37 17 79219721 79219721 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:79219721C>T uc002jzz.1 - 15 3370 c.2995G>A c.(2995-2997)Gag>Aag p.E999K SLC38A10_uc002jzy.1_Missense_Mutation_p.E917K|SLC38A10_uc021uey.1_Missense_Mutation_p.E74K NM_001037984 NP_001033073 Q9HBR0 S38AA_HUMAN Homo sapiens solute carrier family 38, member 10 (SLC38A10), transcript variant 1, mRNA. 999 amino acid transport|sodium ion transport integral to membrane NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) CTCGGCTGCTCGTGGGACACA 0.701000 45 39 0 0 0.009718 0 0 SLC26A7 115111 broad.mit.edu 37 8 92365223 92365223 + Splice_Site SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr8:92365223G>A uc003yez.3 + 11 1553 c.1314_splice c.e11+1 p.W438_splice SLC26A7_uc003yex.3_Splice_Site_p.W438_splice|SLC26A7_uc003yey.3_Splice_Site|SLC26A7_uc003yfa.3_Splice_Site_p.W438_splice NM_134266 NP_599028 Q8TE54 S26A7_HUMAN Homo sapiens solute carrier family 26, member 7 (SLC26A7), transcript variant 2, mRNA. 438 basolateral plasma membrane|integral to membrane|recycling endosome membrane anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 50 BRCA - Breast invasive adenocarcinoma(11;0.00802) AAAATCGATTGGGTAAGTAGA 0.318000 47 32 0 0 0.012213 0 0 UNC45B 146862 broad.mit.edu 37 17 33513465 33513465 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:33513465C>T uc002hja.3 + 19 2780 c.2683C>T c.(2683-2685)Ctg>Ttg p.L895L UNC45B_uc002hjb.3_Silent_p.L893L|UNC45B_uc002hjc.3_Silent_p.L893L|UNC45B_uc010cto.3_Silent_p.L814L NM_173167 NP_775259 Q8IWX7 UN45B_HUMAN Homo sapiens unc-45 homolog B (C. elegans) (UNC45B), transcript variant 1, mRNA. 895 cell differentiation|muscle organ development cytosol binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3) 59 Ovarian(249;0.17) GCTGGAGATCCTGACTGTGGT 0.537000 33 26 0 0 0.003330 0 0 AK310441 0 broad.mit.edu 37 1 148891702 148891702 + RNA SNP T C C TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:148891702T>C uc009wkv.1 + 8 c.1004T>C Homo sapiens cDNA, FLJ17483. AGACATCCAATCAGAACATTC 0.358000 33 8 0 0 0.004482 0 0 FAM46C 54855 broad.mit.edu 37 1 118165614 118165614 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:118165614C>T uc021osq.1 + 0 124 c.124C>T c.(124-126)Cca>Tca p.P42S FAM46C_uc001ehe.3_Missense_Mutation_p.P42S NM_017709 NP_060179 Q5VWP2 FA46C_HUMAN Homo sapiens family with sequence similarity 46, member C (FAM46C), mRNA. 42 endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1) 15 Lung SC(450;0.225) all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05) Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247) AGGCAACTTTCCAACCTTGGA 0.572000 """Mis, F, O""" MM Multiple Myeloma(3;1.13e-06) 9 55 0 0 0.014410 0 0 GON4L 54856 broad.mit.edu 37 1 155735348 155735348 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:155735348G>A uc001flz.2 - 20 4013 c.3916C>T c.(3916-3918)Cct>Tct p.P1306S GON4L_uc021paz.1_Intron|GON4L_uc009wrg.1_Non-coding_Transcript|GON4L_uc001fly.1_Missense_Mutation_p.P1306S|GON4L_uc009wrh.1_Missense_Mutation_p.P1306S|GON4L_uc001fma.1_Missense_Mutation_p.P1306S|GON4L_uc001fmb.4_Missense_Mutation_p.P502S|GON4L_uc001fmc.3_Missense_Mutation_p.P1306S|GON4L_uc001fmd.4_Missense_Mutation_p.P1306S|GON4L_uc009wri.3_Missense_Mutation_p.P892S NM_001037533 NP_001032622 Q3T8J9 GON4L_HUMAN Homo sapiens gon-4-like (C. elegans) (GON4L), transcript variant 1, mRNA. 1306 regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 45 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) ATGCCCTGAGGGAGCGGCTCC 0.517000 46 20 0 0 0.010504 0 0 NR1D2 9975 broad.mit.edu 37 3 23997550 23997550 + Silent SNP G T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:23997550G>T uc003ccs.2 + 2 625 c.306G>T c.(304-306)ctG>ctT p.L102L NR1D2_uc010hfd.2_Non-coding_Transcript|NR1D2_uc011awk.1_Silent_p.L27L NM_005126 NP_001138897 Q14995 NR1D2_HUMAN Homo sapiens nuclear receptor subfamily 1, group D, member 2 (NR1D2), transcript variant 1, mRNA. 102 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 22 TGGTTCTACTGTGTAAAGTCT 0.398000 77 47 2.73381e-35 2.94778e-35 0.014410 1 0 TDRKH 11022 broad.mit.edu 37 1 151751311 151751311 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:151751311C>T uc009wnb.1 - 5 915 c.733G>A c.(733-735)Gag>Aag p.E245K TDRKH_uc001eyy.2_Missense_Mutation_p.E21K|TDRKH_uc001ezb.4_Missense_Mutation_p.E241K|TDRKH_uc001ezc.4_Missense_Mutation_p.E200K|TDRKH_uc001eza.4_Missense_Mutation_p.E245K|TDRKH_uc001ezd.4_Missense_Mutation_p.E245K|TDRKH_uc010pdn.1_Missense_Mutation_p.E21K NM_006862 NP_006853 Q9Y2W6 TDRKH_HUMAN Homo sapiens tudor and KH domain containing (TDRKH), transcript variant 3, mRNA. 245 RNA binding breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) GCAGTCGGCTCCATGCTAGAA 0.542000 62 54 0 0 0.014410 0 0 SLC22A15 55356 broad.mit.edu 37 1 116562312 116562312 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:116562312G>A uc001egb.4 + 2 540 c.410G>A c.(409-411)gGa>gAa p.G137E SLC22A15_uc001ega.2_Missense_Mutation_p.G137E NM_018420 NP_060890 Q8IZD6 S22AF_HUMAN Homo sapiens solute carrier family 22, member 15 (SLC22A15), mRNA. 137 ion transport integral to membrane transmembrane transporter activity endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1) 17 Lung SC(450;0.184) all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05) Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12) GATCGCTTCGGAAGGAAAAAA 0.383000 17 15 0 0 0.003163 0 0 ZNF440 126070 broad.mit.edu 37 19 11943726 11943726 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:11943726C>T uc002msp.1 + 3 1891 c.1735C>T c.(1735-1737)Cct>Tct p.P579S ZNF440_uc021upk.1_5'Flank NM_152357 NP_689570 Q8IYI8 ZN440_HUMAN Homo sapiens zinc finger protein 440 (ZNF440), mRNA. 579 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 TGTGGGAAACCCTTCGGATCT 0.468000 20 14 0 0 0.002450 0 0 SIRPB2 284759 broad.mit.edu 37 20 1459118 1459118 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr20:1459118C>T uc002wfg.2 - 2 814 c.586G>A c.(586-588)Gga>Aga p.G196R SIRPB2_uc002wfh.3_Missense_Mutation_p.G98R|SIRPB2_uc010zpr.1_Missense_Mutation_p.G58R NM_001122962 NP_001116434 Q5JXA9 SIRB2_HUMAN Homo sapiens signal-regulatory protein beta 2 (SIRPB2), transcript variant 1, mRNA. 196 Ig-like V-type 2. integral to membrane endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 AGACCAGCTCCCTGGAACCAC 0.577000 38 25 0 0 0.003330 0 0 KIF4B 285643 broad.mit.edu 37 5 154394896 154394896 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr5:154394896G>A uc010jih.1 + 0 1637 c.1477G>A c.(1477-1479)Gaa>Aaa p.E493K NM_001099293 NP_001092763 Q2VIQ3 KIF4B_HUMAN Homo sapiens kinesin family member 4B (KIF4B), mRNA. 493 axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1) 58 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) TACTGCGGTAGAAGAAGAAGC 0.453000 13 43 0 0 0.014410 0 0 CNTN5 53942 broad.mit.edu 37 11 99827605 99827605 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:99827605C>T uc001pga.3 + 7 1245 c.741C>T c.(739-741)atC>atT p.I247I CNTN5_uc009ywv.2_Silent_p.I247I|CNTN5_uc001pfz.3_Silent_p.I247I|CNTN5_uc021qpb.1_Silent_p.I247I|CNTN5_uc021qpc.1_Silent_p.I173I NM_014361 NP_055176 O94779 CNTN5_HUMAN Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA. 247 Ig-like C2-type 2. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) GGCGGTTCATCTCCCAGGAGA 0.428000 36 22 0 0 0.014323 0 0 MYH2 4620 broad.mit.edu 37 17 10443353 10443353 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:10443353C>T uc010coi.3 - 11 1167 c.1039G>A c.(1039-1041)Gaa>Aaa p.E347K AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.E347K|MYH2_uc010coj.3_Missense_Mutation_p.E347K NM_001100112 NP_060004 Q9UKX2 MYH2_HUMAN Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA. 347 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.E347K(2) NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 ACCTTTTCTTCATTAGTAAAG 0.423000 53 33 0 0 0.004878 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77359862 77359862 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr16:77359862C>T uc002ffc.4 - 12 2352 c.1933G>A c.(1933-1935)Gaa>Aaa p.E645K ADAMTS18_uc010chc.1_Missense_Mutation_p.E233K|ADAMTS18_uc002ffe.1_Missense_Mutation_p.E341K NM_199355 NP_955387 Q8TE60 ATS18_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA. 645 Cys-rich. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 AAGCTATTTTCATTGCAAGGG 0.403000 26 19 0 0 0.007413 0 0 KLKB1 3818 broad.mit.edu 37 4 187171498 187171498 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr4:187171498C>T uc003iyy.3 + 6 771 c.700C>T c.(700-702)Cac>Tac p.H234Y KLKB1_uc011clc.2_Silent_p.I21I|KLKB1_uc011cld.2_Missense_Mutation_p.H196Y NM_000892 NP_000883 P03952 KLKB1_HUMAN Homo sapiens kallikrein B, plasma (Fletcher factor) 1 (KLKB1), mRNA. 234 Apple 3. Factor XII activation|blood coagulation, intrinsic pathway|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis cytoplasm|extracellular space|plasma membrane serine-type endopeptidase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 40 all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168) CTGCACCTATCACCCCAACTG 0.458000 62 52 0 0 0.014410 0 0 C2orf77 129881 broad.mit.edu 37 2 170507017 170507017 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:170507017C>T uc002ufe.2 - 6 1068 c.974G>A c.(973-975)cGa>cAa p.R325Q NM_001085447 NP_001078916 Q0VFZ6 CB077_HUMAN Homo sapiens chromosome 2 open reading frame 77 (C2orf77), mRNA. 325 endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|urinary_tract(2) 23 TCTTTCTCTTCGTTTCTCCAT 0.348000 11 11 0 0 0.010729 0 0 EEPD1 80820 broad.mit.edu 37 7 36194146 36194146 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr7:36194146C>T uc003tfa.3 + 1 853 c.213C>T c.(211-213)atC>atT p.I71I NM_030636 NP_085139 Q7L9B9 EEPD1_HUMAN Homo sapiens endonuclease/exonuclease/phosphatase family domain containing 1 (EEPD1), mRNA. 71 DNA repair DNA binding endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1) 18 GAGAGTATATCGGTGGCTTCA 0.592000 54 36 0 0 0.003755 0 0 CDH4 1002 broad.mit.edu 37 20 60348150 60348150 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr20:60348150G>A uc002ybn.2 + 3 576 c.488G>A c.(487-489)gGg>gAg p.G163E CDH4_uc002ybr.2_Missense_Mutation_p.G126E|CDH4_uc002ybp.2_Missense_Mutation_p.G89E NM_001794 NP_001785 P55283 CADH4_HUMAN Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA. 163 adherens junction organization|cell junction assembly calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) AACGCCAACGGGCTGAGGCGG 0.657000 17 13 0 0 0.001855 0 0 NUP210L 91181 broad.mit.edu 37 1 153998119 153998119 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:153998119C>T uc001fdw.3 - 29 4093 c.4021G>A c.(4021-4023)Gaa>Aaa p.E1341K NUP210L_uc009woq.3_Missense_Mutation_p.E250K|NUP210L_uc010peh.2_Missense_Mutation_p.E1341K NM_207308 NP_997191 Q5VU65 P210L_HUMAN Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA. 1341 integral to membrane NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2) 80 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) AGGAGCCCTTCACCATCCTCC 0.478000 159 94 0 0 0.014410 0 0 OTOGL 283310 broad.mit.edu 37 12 80623121 80623121 + Nonsense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:80623121C>T uc001szd.3 + 6 553 c.547C>T c.(547-549)Cga>Tga p.R183* NM_173591 NP_775862 Homo sapiens otogelin-like (OTOGL), mRNA. breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 AGAGGAAATTCGAATTTATGG 0.348000 41 30 0 0 0.007291 0 0 GRID2 2895 broad.mit.edu 37 4 94547532 94547532 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr4:94547532G>A uc011cdt.2 + 13 2564 c.2306G>A c.(2305-2307)gGa>gAa p.G769E GRID2_uc011cdu.2_Missense_Mutation_p.G674E NM_001510 NP_001501 O43424 GRID2_HUMAN Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA. 769 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity p.G769G(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) GCTGATCGGGGATATGGAATT 0.388000 44 20 0 0 0.008871 0 0 MFGE8 4240 broad.mit.edu 37 15 89449929 89449929 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr15:89449929C>T uc002bng.4 - 3 581 c.468G>A c.(466-468)aaG>aaA p.K156K MFGE8_uc002bnf.4_Silent_p.K44K|MFGE8_uc002bnh.4_Silent_p.K156K|MFGE8_uc010bnn.3_Silent_p.K148K|MFGE8_uc010upq.2_Silent_p.K112K|MFGE8_uc010bno.3_Silent_p.K112K NM_005928 NP_005919 Q08431 MFGM_HUMAN Homo sapiens milk fat globule-EGF factor 8 protein (MFGE8), transcript variant 1, mRNA. 156 F5/8 type C 1. angiogenesis|cell adhesion|interspecies interaction between organisms|single fertilization breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 22 Lung NSC(78;0.0392)|all_lung(78;0.077) CCTTGAAGGCCTTCAGGTACT 0.537000 33 34 0 0 0.004289 0 0 ZNF782 158431 broad.mit.edu 37 9 99581721 99581721 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr9:99581721G>A uc004awp.1 - 5 865 c.584C>T c.(583-585)aCc>aTc p.T195I ZNF782_uc011lup.1_Missense_Mutation_p.T63I NM_001001662 NP_001001662 Q6ZMW2 ZN782_HUMAN Homo sapiens zinc finger protein 782 (ZNF782), mRNA. 195 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3) 33 Acute lymphoblastic leukemia(62;0.0527) ATGATGGAGGGTTTTCACAAT 0.363000 20 22 0 0 0.014323 0 0 CHRNA9 55584 broad.mit.edu 37 4 40351400 40351400 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr4:40351400C>T uc003gva.1 + 3 883 c.867C>T c.(865-867)atC>atT p.I289I NM_017581 NP_060051 Q9UGM1 ACHA9_HUMAN Homo sapiens cholinergic receptor, nicotinic, alpha 9 (CHRNA9), mRNA. 289 elevation of cytosolic calcium ion concentration|synaptic transmission cell junction|postsynaptic membrane calcium channel activity|receptor activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1) 33 Nicotine(DB00184) TGGCAGAAATCATGCCGGCCT 0.512000 62 58 0 0 0.014410 0 0 RRN3P1 730092 broad.mit.edu 37 16 21817457 21817457 + Silent SNP G A A rs150520281 by1000genomes TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr16:21817457G>A uc010vbl.1 - 6 603 c.106C>T c.(106-108)Ctg>Ttg p.L36L LOC23117_uc021tel.1_Intron Homo sapiens RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 1 (RRN3P1), non-coding RNA. CTTACATCCAGCTTGAGTAGT 0.259000 24 3 0 0 0.000602 0 0 RBM25 58517 broad.mit.edu 37 14 73580994 73580994 + Splice_Site SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr14:73580994G>A uc010ttu.2 + 19 2668 c.2392_splice c.e19-1 p.V798_splice RBM25_uc001xno.3_Splice_Site_p.V798_splice|RBM25_uc001xnp.3_Splice_Site_p.V593_splice NM_021239 NP_067062 P49756 RBM25_HUMAN Homo sapiens RNA binding motif protein 25 (RBM25), mRNA. 798 PWI. RNA splicing|apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nuclear speck mRNA binding|nucleotide binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1) 31 BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688) TCTCTTTTAGGTTATGGCTCA 0.259000 24 12 0 0 0.001855 0 0 DGKH 160851 broad.mit.edu 37 13 42830421 42830421 + Splice_Site SNP T C C TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr13:42830421T>C uc001uyp.3 + 32 c.4234_splice c.e32-1 Q86XP1 DGKH_HUMAN Homo sapiens diacylglycerol kinase, eta (DGKH), transcript variant 5, mRNA. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization endosome|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109) ATGCTTCAGTTTCCTTTACAG 0.448000 47 28 0 0 0.005443 0 0 FGFR3 2261 broad.mit.edu 37 4 1808298 1808298 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr4:1808298G>A uc003gdr.3 + 15 2312 c.2056G>A c.(2056-2058)Gag>Aag p.E686K FGFR3_uc003gdu.2_Missense_Mutation_p.E688K|FGFR3_uc003gds.3_Missense_Mutation_p.E574K|FGFR3_uc003gdq.3_Missense_Mutation_p.G663E NM_000142 NP_000133 P22607 FGFR3_HUMAN Homo sapiens fibroblast growth factor receptor 3 (FGFR3), transcript variant 1, mRNA. 686 Protein kinase. JAK-STAT cascade|MAPKKK cascade|bone maturation|cell growth|insulin receptor signaling pathway|negative regulation of developmental growth|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding p.E686K(2) NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607) 3091 Breast(71;0.212)|all_epithelial(65;0.241) all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234) Palifermin(DB00039) CCTGCTCTGGGAGATCTTCAC 0.652000 1 """Mis, T""" """IGH@, ETV6""" """bladder, MM, T-cell lymphoma""" """Hypochondroplasia, Thanatophoric dysplasia""" Saethre-Chotzen syndrome;Muenke syndrome 28 11 0 0 0.008291 0 0 TMEM132D 121256 broad.mit.edu 37 12 129559541 129559541 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:129559541C>T uc009zyl.1 - 8 2507 c.2179G>A c.(2179-2181)Gat>Aat p.D727N TMEM132D_uc001uia.2_Missense_Mutation_p.D265N NM_133448 NP_597705 Q14C87 T132D_HUMAN Homo sapiens transmembrane protein 132D (TMEM132D), mRNA. 727 integral to membrane NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) TCTTTCCCATCGTAAATATCC 0.468000 40 23 0 0 0.004656 0 0 KRTAP10-11 386678 broad.mit.edu 37 21 46066504 46066504 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr21:46066504G>A uc002zfr.4 + 0 174 c.129G>A c.(127-129)ctG>ctA p.L43L TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron NM_198692 NP_941965 P60411 KR109_HUMAN Homo sapiens keratin associated protein 10-11 (KRTAP10-11), mRNA. 43 25 X 5 AA repeats of C-C-X(3). keratin filament NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1) 12 CCCCCTCCCTGAGCCTGGTCT 0.711000 24 18 0 0 0.008871 0 0 PRRX1 5396 broad.mit.edu 37 1 170688913 170688913 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:170688913G>A uc001ghf.3 + 1 335 c.288G>A c.(286-288)agG>agA p.R96R PRRX1_uc001ghe.3_Silent_p.R96R NM_022716 NP_073207 P54821 PRRX1_HUMAN Homo sapiens paired related homeobox 1 (PRRX1), transcript variant pmx-1b, mRNA. 96 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity large_intestine(2)|ovary(1) 3 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) AGCAGCGAAGGAATAGGACAA 0.473000 23 16 0 0 0.004007 0 0 SAMD9L 219285 broad.mit.edu 37 7 92762825 92762825 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr7:92762825G>A uc003umh.1 - 4 3676 c.2460C>T c.(2458-2460)tcC>tcT p.S820S SAMD9L_uc003umj.1_Silent_p.S820S|SAMD9L_uc003umi.1_Silent_p.S820S|SAMD9L_uc010lfb.1_Silent_p.S820S|SAMD9L_uc003umk.1_Silent_p.S820S|SAMD9L_uc010lfc.1_Silent_p.S820S|SAMD9L_uc010lfd.1_Silent_p.S820S|SAMD9L_uc022ahh.1_Silent_p.S820S NM_152703 NP_689916 Q8IVG5 SAM9L_HUMAN Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA. 820 central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 88 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) CTGCTAAAACGGAATGGATGG 0.378000 43 33 0 0 0.009535 0 0 ATRNL1 26033 broad.mit.edu 37 10 116975623 116975623 + Missense_Mutation SNP T G G TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr10:116975623T>G uc001lcg.3 + 8 1903 c.1517T>G c.(1516-1518)gTt>gGt p.V506G NM_207303 NP_997186 Q5VV63 ATRN1_HUMAN Homo sapiens attractin-like 1 (ATRNL1), mRNA. 506 integral to membrane sugar binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) AAATATGAAGTTAACACTAAG 0.303000 15 13 0 0 0.002450 0 0 GDAP1 54332 broad.mit.edu 37 8 75263658 75263658 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr8:75263658G>A uc003yah.3 + 1 346 c.267G>A c.(265-267)gaG>gaA p.E89E GDAP1_uc011lfj.2_Intron|GDAP1_uc003yai.3_Silent_p.E21E NM_018972 NP_001035808 Q8TB36 GDAP1_HUMAN Homo sapiens ganglioside-induced differentiation-associated protein 1 (GDAP1), transcript variant 1, mRNA. 89 GST N-terminal. cytoplasm endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 Breast(64;0.00769) Myeloproliferative disorder(644;0.0122) BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234) TAATTTGTGAGGCCACTCAGA 0.418000 65 60 0 0 0.014410 0 0 SAMD7 344658 broad.mit.edu 37 3 169644351 169644351 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:169644351G>A uc003fgd.3 + 5 568 c.301G>A c.(301-303)Gaa>Aaa p.E101K SAMD7_uc003fge.3_Missense_Mutation_p.E101K|SAMD7_uc011bpo.2_Missense_Mutation_p.E2K NM_182610 NP_872416 Q7Z3H4 SAMD7_HUMAN Homo sapiens sterile alpha motif domain containing 7 (SAMD7), mRNA. 101 p.E101K(2) NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106) GACAGAAATGGAAATGTATGC 0.388000 17 9 0 0 0.010729 0 0 VILL 50853 broad.mit.edu 37 3 38038579 38038579 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:38038579C>T uc003chj.3 + 5 748 c.462C>T c.(460-462)tcC>tcT p.S154S VILL_uc003chk.1_Silent_p.S154S|VILL_uc003chl.3_Silent_p.S154S|VILL_uc010hgu.3_5'UTR NM_015873 NP_056957 O15195 VILL_HUMAN Homo sapiens villin-like (VILL), mRNA. 154 actin filament capping|cytoskeleton organization actin cytoskeleton actin binding|structural constituent of cytoskeleton cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2) 28 KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661) TGGAGCTCTCCTGGAACAGCT 0.542000 OREG0015474 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 58 32 0 0 0.012213 0 0 TTBK1 84630 broad.mit.edu 37 6 43251561 43251561 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:43251561C>T uc003ouq.1 + 13 3362 c.3083C>T c.(3082-3084)tCc>tTc p.S1028F TTBK1_uc021yzs.1_Missense_Mutation_p.S316F NM_032538 NP_115927 Q5TCY1 TTBK1_HUMAN Homo sapiens tau tubulin kinase 1 (TTBK1), mRNA. 1028 cell junction|cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399) GCCCCGGTGTCCCCGCTGGAG 0.677000 27 25 0 0 0.004656 0 0 ZNF319 57567 broad.mit.edu 37 16 58031661 58031661 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr16:58031661G>A uc002emx.1 - 1 1132 c.509C>T c.(508-510)gCt>gTt p.A170V ZNF319_uc021tjd.1_Missense_Mutation_p.A170V NM_020807 NP_065858 Q9P2F9 ZN319_HUMAN Homo sapiens zinc finger protein 319 (ZNF319), mRNA. 170 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1) 8 CGCTGCCTCAGCTGGCTTGTA 0.622000 122 89 0 0 0.014410 0 0 OTOL1 131149 broad.mit.edu 37 3 161214600 161214600 + Nonsense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:161214600G>A uc011bpb.2 + 0 5 c.5G>A c.(4-6)tGg>tAg p.W2* NM_001080440 NP_001073909 A6NHN0 OTOL1_HUMAN Homo sapiens otolin 1 (OTOL1), mRNA. 2 collagen central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1) 27 TCAAATATGTGGATGTTTTCT 0.299000 6 7 0 0 0.001984 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37431162 37431162 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr10:37431162G>A uc021ppc.1 + 6 1268 c.1169G>A c.(1168-1170)aGa>aAa p.R390K ANKRD30A_uc001iza.1_Missense_Mutation_p.R390K NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA. 446 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 GAAAAAGGAAGATCTAAGATG 0.383000 20 17 0 0 0.006122 0 0 FAM9B 171483 broad.mit.edu 37 X 9000489 9000489 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chrX:9000489G>A uc004csh.3 - 1 366 c.177C>T c.(175-177)gtC>gtT p.V59V FAM9B_uc011mhu.2_Silent_p.V14V Q8IZU0 FAM9B_HUMAN Homo sapiens family with sequence similarity 9, member B (FAM9B), mRNA. 14 nucleus breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1) 11 Hepatocellular(5;0.219) ATTCATCACGGACTGGATCCT 0.393000 3 53 0 0 0.014410 0 0 PTPN3 5774 broad.mit.edu 37 9 112145746 112145746 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr9:112145746G>A uc004bed.2 - 22 2451 c.2339C>T c.(2338-2340)aCc>aTc p.T780I PTPN3_uc004beb.2_Missense_Mutation_p.T649I|PTPN3_uc004bec.2_Missense_Mutation_p.T604I|PTPN3_uc010mtu.2_Non-coding_Transcript|PTPN3_uc011lwg.1_Missense_Mutation_p.T735I|PTPN3_uc011lwh.1_Missense_Mutation_p.T626I|PTPN3_uc011lwd.1_Missense_Mutation_p.T248I|PTPN3_uc011lwe.1_Missense_Mutation_p.T493I|PTPN3_uc011lwf.1_Missense_Mutation_p.T448I NM_002829 NP_001138843 P26045 PTN3_HUMAN Homo sapiens protein tyrosine phosphatase, non-receptor type 3 (PTPN3), transcript variant 1, mRNA. 780 Tyrosine-protein phosphatase. negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle cytoplasm|cytoskeleton|internal side of plasma membrane ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 ATAGGCGATGGTGCAGTCCTC 0.592000 72 50 0 0 0.014410 0 0 G6PD 2539 broad.mit.edu 37 X 153762623 153762623 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chrX:153762623G>A uc004fly.1 - 5 687 c.574C>T c.(574-576)Cgt>Tgt p.R192C G6PD_uc004flx.1_Missense_Mutation_p.R222C NM_001042351 NP_001035810 P11413 G6PD_HUMAN Homo sapiens glucose-6-phosphate dehydrogenase (G6PD), transcript variant 2, mRNA. 192 cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle NADP binding|glucose binding|glucose-6-phosphate dehydrogenase activity|protein homodimerization activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4) 18 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TGGTCCTCACGGAACAGGGAG 0.637000 3 31 0 0 0.009535 0 0 NUP210L 91181 broad.mit.edu 37 1 154108432 154108432 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:154108432C>T uc001fdw.3 - 6 939 c.867G>A c.(865-867)ctG>ctA p.L289L NUP210L_uc009woq.3_5'UTR|NUP210L_uc010peh.2_Silent_p.L289L NM_207308 NP_997191 Q5VU65 P210L_HUMAN Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA. 289 integral to membrane NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2) 80 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) TATAATGTTCCAGGGGAAATT 0.383000 24 9 0 0 0.004482 0 0 CCDC132 55610 broad.mit.edu 37 7 92887687 92887687 + Missense_Mutation SNP T G G TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr7:92887687T>G uc003umo.3 + 7 687 c.559T>G c.(559-561)Tta>Gta p.L187V CCDC132_uc003ump.3_Missense_Mutation_p.L157V|CCDC132_uc003umr.3_Non-coding_Transcript|CCDC132_uc011khz.2_Intron|CCDC132_uc003umn.3_Missense_Mutation_p.L187V NM_017667 NP_060137 Q96JG6 CC132_HUMAN Homo sapiens coiled-coil domain containing 132 (CCDC132), transcript variant 1, mRNA. 187 endometrium(1)|large_intestine(2)|lung(5) 8 all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837) STAD - Stomach adenocarcinoma(171;0.000302) AGATGTACGGTTAAGTGAAAT 0.303000 35 23 0 0 0.006320 0 0 L3MBTL3 84456 broad.mit.edu 37 6 130370480 130370480 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:130370480G>A uc003qbt.3 + 3 332 c.156G>A c.(154-156)atG>atA p.M52I L3MBTL3_uc003qbu.3_Missense_Mutation_p.M52I NM_032438 NP_115814 Q96JM7 LMBL3_HUMAN Homo sapiens l(3)mbt-like 3 (Drosophila) (L3MBTL3), transcript variant 1, mRNA. 52 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1) 43 GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154) AGAATGAGATGGAAAATGTTA 0.393000 23 11 0 0 0.001855 0 0 NUP98 4928 broad.mit.edu 37 11 3803334 3803334 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:3803334G>A uc001lyh.3 - 1 435 c.14C>T c.(13-15)tCa>tTa p.S5L NUP98_uc001lyi.3_Missense_Mutation_p.S5L|NUP98_uc001lyj.2_Missense_Mutation_p.S5L|NUP98_uc001lyk.2_Missense_Mutation_p.S5L|NUP98_uc010qxv.2_Missense_Mutation_p.S5L NM_016320 NP_057404 P52948 NUP98_HUMAN Homo sapiens nucleoporin 98kDa (NUP98), transcript variant 1, mRNA. 5 DNA replication|carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|mitotic prometaphase|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction Nup107-160 complex|cytosol|nuclear membrane|nucleoplasm protein binding|structural constituent of nuclear pore|transporter activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) TGTTCCAAATGATTTGTTAAA 0.358000 T """HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11""" AML 21 14 0 0 0.002450 0 0 ZNF395 55893 broad.mit.edu 37 8 28218600 28218600 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr8:28218600G>A uc003xgq.3 - 1 130 c.42C>T c.(40-42)ctC>ctT p.L14L ZNF395_uc003xgt.3_Silent_p.L14L|ZNF395_uc003xgr.3_Silent_p.L14L|ZNF395_uc003xgs.3_Silent_p.L14L NM_018660 NP_061130 Q9H8N7 ZN395_HUMAN Homo sapiens zinc finger protein 395 (ZNF395), mRNA. 14 transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Ovarian(32;2.06e-05) KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142) GGGCTCCCAGGAGGGACCGCT 0.687000 39 32 0 0 0.013726 0 0 PCLO 27445 broad.mit.edu 37 7 82453677 82453677 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr7:82453677G>A uc003uhx.2 - 18 14760 c.14471C>T c.(14470-14472)cCt>cTt p.P4824L PCLO_uc003uhv.2_Missense_Mutation_p.P4824L|PCLO_uc003uht.1_Missense_Mutation_p.P266L|PCLO_uc003uhu.1_Missense_Mutation_p.P245L NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 4686 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TTCTTTGAGAGGATACCACCT 0.398000 32 15 0 0 0.006122 0 0 OR2A25 392138 broad.mit.edu 37 7 143771930 143771930 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr7:143771930G>A uc011ktx.2 + 0 618 c.618G>A c.(616-618)ctG>ctA p.L206L NM_001004488 NP_001004488 A4D2G3 O2A25_HUMAN Homo sapiens olfactory receptor, family 2, subfamily A, member 25 (OR2A25), mRNA. 206 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 24 Melanoma(164;0.0783) TGTCTGTGCTGGTGGGAGCCT 0.438000 54 64 0 0 0.014410 0 0 DPY19L4 286148 broad.mit.edu 37 8 95802053 95802053 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr8:95802053C>T uc003ygx.2 + 18 2211 c.2087C>T c.(2086-2088)cCa>cTa p.P696L NM_181787 NP_861452 Q7Z388 D19L4_HUMAN Homo sapiens dpy-19-like 4 (C. elegans) (DPY19L4), mRNA. 696 integral to membrane breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2) 21 Breast(36;3.85e-06) AACTATTCTCCATATGTGAAT 0.323000 228 125 0 0 0.014410 0 0 OSBP2 23762 broad.mit.edu 37 22 31137152 31137152 + Nonsense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr22:31137152C>T uc003aiy.1 + 1 753 c.649C>T c.(649-651)Cag>Tag p.Q217* OSBP2_uc011ala.1_Nonsense_Mutation_p.Q52*|OSBP2_uc010gwc.1_Nonsense_Mutation_p.Q44*|OSBP2_uc003aix.1_Nonsense_Mutation_p.Q217*|OSBP2_uc011alb.1_Nonsense_Mutation_p.Q217*|OSBP2_uc003aiz.1_Nonsense_Mutation_p.Q217* NM_030758 NP_110385 Q969R2 OSBP2_HUMAN Homo sapiens oxysterol binding protein 2 (OSBP2), transcript variant 1, mRNA. 217 PH. lipid transport membrane lipid binding breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1) 19 CTACAGAAATCAGGGTGAAAT 0.532000 11 11 0 0 0.013537 0 0 MGA 23269 broad.mit.edu 37 15 42041983 42041983 + Nonsense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr15:42041983C>T uc010ucy.2 + 16 6359 c.6178C>T c.(6178-6180)Caa>Taa p.Q2060* MGA_uc010ucz.2_Nonsense_Mutation_p.Q1851*|MGA_uc010uda.1_Nonsense_Mutation_p.Q676*|MGA_uc001zoi.3_Nonsense_Mutation_p.Q274* NM_001164273 NP_001157745 Q8IWI9 MGAP_HUMAN Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA. 2021 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) ACATACAGATCAAGATTATAA 0.403000 60 41 0 0 0.009718 0 0 CNOT1 23019 broad.mit.edu 37 16 58568274 58568274 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr16:58568274G>A uc002env.3 - 39 5965 c.5672C>T c.(5671-5673)aCc>aTc p.T1891I CNOT1_uc002enw.3_Non-coding_Transcript|CNOT1_uc002enu.4_Missense_Mutation_p.T1886I|CNOT1_uc002ent.3_5'Flank|CNOT1_uc010vik.2_Missense_Mutation_p.T848I NM_016284 NP_057368 A5YKK6 CNOT1_HUMAN Homo sapiens CCR4-NOT transcription complex, subunit 1 (CNOT1), transcript variant 1, mRNA. 1891 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 87 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) GAGATCATCGGTCTTCAGTAT 0.398000 10 11 0 0 0.010729 0 0 CACNA2D1 781 broad.mit.edu 37 7 81591339 81591339 + Splice_Site SNP A G G TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr7:81591339A>G uc003uhr.1 - 36 3093 c.2837_splice c.e36-1 p.V946_splice CACNA2D1_uc011kgy.1_Splice_Site_p.V158_splice NM_000722 NP_000713 P54289 CA2D1_HUMAN Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 1 (CACNA2D1), mRNA. 958 voltage-gated calcium channel complex metal ion binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) CTCCATCTCAACTTGGGTGGC 0.473000 40 28 0 0 0.008361 0 0 CCDC73 493860 broad.mit.edu 37 11 32663598 32663598 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:32663598C>T uc001mtv.3 - 12 1014 c.970G>A c.(970-972)Gag>Aag p.E324K CCDC73_uc001mtw.1_Missense_Mutation_p.E314K NM_001008391 NP_001008392 Q6ZRK6 CCD73_HUMAN Homo sapiens coiled-coil domain containing 73 (CCDC73), mRNA. 324 p.E324D(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 51 Breast(20;0.112) TTTACCTTCTCCCTTTGCAGC 0.289000 8 7 0 0 0.001984 0 0 LSAMP 4045 broad.mit.edu 37 3 115738374 115738374 + Missense_Mutation SNP G T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:115738374G>T uc011bis.2 - 2 1009 c.502C>A c.(502-504)Ctt>Att p.L168I LSAMP_uc003ebs.3_Missense_Mutation_p.L168I NM_002338 NP_002329 Q13449 LSAMP_HUMAN Homo sapiens limbic system-associated membrane protein (LSAMP), mRNA. 168 Ig-like C2-type 2. cell adhesion|nervous system development anchored to membrane|plasma membrane NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215) GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152) GTTGGTGTAAGGTGTCTCCAG 0.463000 18 11 0.00829132 0.00861503 0.008291 1 0 GPR37L1 9283 broad.mit.edu 37 1 202097473 202097473 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:202097473C>T uc001gxj.3 + 1 1298 c.1235C>T c.(1234-1236)aCc>aTc p.T412I NM_004767 NP_004758 O60883 ETBR2_HUMAN Homo sapiens G protein-coupled receptor 37 like 1 (GPR37L1), mRNA. 412 integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2) 18 GGCGCCATCACCCCAGTGCTG 0.652000 28 26 0 0 0.007291 0 0 OR6M1 390261 broad.mit.edu 37 11 123676143 123676143 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:123676143G>A uc010rzz.2 - 0 915 c.915C>T c.(913-915)atC>atT p.I305I NM_001005325 NP_001005325 Q8NGM8 OR6M1_HUMAN Homo sapiens olfactory receptor, family 6, subfamily M, member 1 (OR6M1), mRNA. 305 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) TCAAGGTCATGATTCTGTTCA 0.388000 57 24 0 0 0.004656 0 0 PTPRN 5798 broad.mit.edu 37 2 220167369 220167369 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:220167369G>A uc002vkz.3 - 4 809 c.568C>T c.(568-570)Ctg>Ttg p.L190L PTPRN_uc010zlc.2_Silent_p.L100L|PTPRN_uc002vla.3_Silent_p.L190L NM_002846 NP_001186693 Q16849 PTPRN_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, N (PTPRN), transcript variant 1, mRNA. 190 response to reactive oxygen species integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity p.L189M(1) breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Renal(207;0.0474) Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875) TGTGGGGGCAGCAGCAGGTGC 0.627000 33 30 0 0 0.003755 0 0 VANGL1 81839 broad.mit.edu 37 1 116228028 116228028 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:116228028C>T uc001efv.1 + 6 1465 c.1194C>T c.(1192-1194)ttC>ttT p.F398F VANGL1_uc009wgy.1_Silent_p.F396F|VANGL1_uc021ose.1_Silent_p.F398F NM_138959 NP_620409 Q8TAA9 VANG1_HUMAN Homo sapiens vang-like 1 (van gogh, Drosophila) (VANGL1), transcript variant 1, mRNA. 398 multicellular organismal development integral to membrane protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1) 27 Lung SC(450;0.211) all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05) Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12) AGGCCATTTTCCCCTCCATGG 0.612000 5 40 0 0 0.008740 0 0 MPHOSPH9 10198 broad.mit.edu 37 12 123687198 123687198 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:123687198G>A uc001uel.3 - 5 1406 c.1298C>T c.(1297-1299)tCc>tTc p.S433F MPHOSPH9_uc010tal.2_Intron|MPHOSPH9_uc010tam.2_Non-coding_Transcript|MPHOSPH9_uc001uem.3_Intron NM_022782 NP_073619 Q99550 MPP9_HUMAN Homo sapiens M-phase phosphoprotein 9 (MPHOSPH9), mRNA. 433 M phase of mitotic cell cycle Golgi membrane|centriole NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1) 33 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169) ATCTTCCAAGGAAGTCAATGA 0.393000 25 18 0 0 0.007413 0 0 ST8SIA4 7903 broad.mit.edu 37 5 100147716 100147716 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr5:100147716C>T uc003knk.3 - 4 1243 c.915G>A c.(913-915)aaG>aaA p.K305K NM_005668 NP_005659 Q92187 SIA8D_HUMAN Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 (ST8SIA4), transcript variant 1, mRNA. 305 N-glycan processing|axon guidance integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1) 25 all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203) COAD - Colon adenocarcinoma(37;0.00402) CATTTAAATCCTTAGGGAAGG 0.373000 4 15 0 0 0.002450 0 0 OR51I1 390063 broad.mit.edu 37 11 5462139 5462139 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:5462139G>A uc010qze.2 - 0 645 c.606C>T c.(604-606)ctC>ctT p.L202L HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron NM_001005288 NP_001005288 Q9H343 O51I1_HUMAN Homo sapiens olfactory receptor, family 51, subfamily I, member 1 (OR51I1), mRNA. 202 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 30 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGATCACCAAGAGCCCATAAA 0.443000 18 18 0 0 0.004990 0 0 PGM5 5239 broad.mit.edu 37 9 71006611 71006611 + Nonsense_Mutation SNP G T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr9:71006611G>T uc004agr.3 + 4 1088 c.859G>T c.(859-861)Gga>Tga p.G287* NM_021965 NP_068800 Q15124 PGM5_HUMAN Homo sapiens phosphoglucomutase 5 (PGM5), mRNA. 287 cell adhesion|cellular calcium ion homeostasis|glucose metabolic process Z disc|costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1) 34 AGGAGAATATGGATTTGGAGC 0.463000 46 25 1.75199e-13 1.85831e-13 0.007291 1 0 RNF150 57484 broad.mit.edu 37 4 141789438 141789438 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr4:141789438C>T uc003iio.1 - 6 1948 c.1294G>A c.(1294-1296)Gac>Aac p.D432N RNF150_uc010iok.1_Missense_Mutation_p.D390N NM_020724 NP_065775 Q9ULK6 RN150_HUMAN Homo sapiens ring finger protein 150 (RNF150), mRNA. 432 integral to membrane zinc ion binding breast(1)|large_intestine(10)|lung(7)|ovary(1) 19 all_hematologic(180;0.162) TCTTCACAGTCCTGGTCAGTG 0.483000 28 12 0 0 0.010729 0 0 HECTD1 25831 broad.mit.edu 37 14 31626487 31626487 + Nonsense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr14:31626487G>A uc001wrc.1 - 10 2134 c.1645C>T c.(1645-1647)Cga>Tga p.R549* HECTD1_uc001wrd.1_Nonsense_Mutation_p.R64* NM_015382 NP_056197 Q9ULT8 HECD1_HUMAN Homo sapiens HECT domain containing 1 (HECTD1), mRNA. 549 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 70 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) ATCATTTTTCGAATTAGAGCA 0.308000 38 27 0 0 0.004656 0 0 KEL 3792 broad.mit.edu 37 7 142649704 142649704 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr7:142649704C>T uc003wcb.3 - 9 1305 c.1095G>A c.(1093-1095)atG>atA p.M365I NM_000420 NP_000411 P23276 KELL_HUMAN Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA. 365 proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding p.M365I(2) central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1) 60 Melanoma(164;0.059) GCCCTAAGATCATGTGGCTCT 0.527000 28 21 0 0 0.002780 0 0 AHNAK2 113146 broad.mit.edu 37 14 105406625 105406625 + Missense_Mutation SNP C A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr14:105406625C>A uc010axc.1 - 6 15283 c.15163G>T c.(15163-15165)Ggg>Tgg p.G5055W AHNAK2_uc021sen.1_Missense_Mutation_p.G452W|AHNAK2_uc021seo.1_Missense_Mutation_p.G53W|AHNAK2_uc001ypx.2_Missense_Mutation_p.G4955W NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA. 5055 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) AAGCTACCCCCTGCTGTGGCA 0.542000 80 38 1.67305e-13 1.77619e-13 0.006230 1 0 CSMD2 114784 broad.mit.edu 37 1 34076734 34076734 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:34076734G>A uc001bxm.1 - 40 6427 c.6250C>T c.(6250-6252)Cca>Tca p.P2084S CSMD2_uc001bxn.1_Missense_Mutation_p.P2044S|CSMD2_uc001bxo.1_Missense_Mutation_p.P957S NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 2044 integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) AGGGAGCTTGGAAGCTCGCTT 0.557000 9 76 0 0 0.014410 0 0 SLC15A2 6565 broad.mit.edu 37 3 121643824 121643824 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:121643824C>T uc003eep.2 + 12 1221 c.1068C>T c.(1066-1068)atC>atT p.I356I SLC15A2_uc011bjn.1_Silent_p.I325I NM_021082 NP_066568 Q16348 S15A2_HUMAN Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA. 356 protein transport integral to plasma membrane peptide:hydrogen symporter activity|protein binding NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(114;0.0967) Cefadroxil(DB01140) TTATCTTCATCCCGTTGTTTG 0.383000 89 31 0 0 0.013726 0 0 NPAS4 266743 broad.mit.edu 37 11 66192014 66192014 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:66192014G>A uc001ohx.1 + 6 1829 c.1653G>A c.(1651-1653)gaG>gaA p.E551E NPAS4_uc010rpc.1_Silent_p.E341E NM_178864 NP_849195 Q8IUM7 NPAS4_HUMAN Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA. 551 transcription, DNA-dependent DNA binding|signal transducer activity breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3) 49 CCTTCCCAGAGCAACTGAGCC 0.582000 105 68 0 0 0.014410 0 0 C1orf173 127254 broad.mit.edu 37 1 75055579 75055579 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:75055579C>T uc001dgg.3 - 11 2131 c.1912G>A c.(1912-1914)Gaa>Aaa p.E638K CR627203_uc001dgh.3_Intron|C1orf173_uc001dgi.4_Missense_Mutation_p.E432K NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA. 638 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 TCTAAGGATTCCTCAATTGGA 0.413000 48 36 0 0 0.004878 0 0 ZFPM2 23414 broad.mit.edu 37 8 106646527 106646527 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr8:106646527G>A uc003ymd.3 + 4 497 c.474G>A c.(472-474)ctG>ctA p.L158L NM_012082 NP_036214 Q8WW38 FOG2_HUMAN Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA. 158 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) AGTGGTTGCTGGATGTGACTT 0.428000 13 9 0 0 0.008291 0 0 RPS6KB2 6199 broad.mit.edu 37 11 67200847 67200847 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:67200847G>A uc001old.3 + 9 917 c.835G>A c.(835-837)Gat>Aat p.D279N RPS6KB2_uc021qmi.1_Missense_Mutation_p.D2N NM_003952 NP_003943 Q9UBS0 KS6B2_HUMAN Homo sapiens ribosomal protein S6 kinase, 70kDa, polypeptide 2 (RPS6KB2), mRNA. 279 Protein kinase. nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation nucleoplasm ATP binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2) 25 BRCA - Breast invasive adenocarcinoma(15;3.26e-06) GAAAACCATGGATAAGATCAT 0.627000 54 44 0 0 0.014410 0 0 IGDCC3 9543 broad.mit.edu 37 15 65628235 65628235 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr15:65628235G>A uc002aos.2 - 2 721 c.469C>T c.(469-471)Cgc>Tgc p.R157C NM_004884 NP_004875 Q8IVU1 IGDC3_HUMAN Homo sapiens immunoglobulin superfamily, DCC subclass, member 3 (IGDCC3), mRNA. 157 Ig-like C2-type 2. breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 CACTGGAAGCGGGCCACACCA 0.592000 46 40 0 0 0.007835 0 0 SLFN13 146857 broad.mit.edu 37 17 33772081 33772081 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:33772081G>A uc002hjk.1 - 0 949 c.619C>T c.(619-621)Cct>Tct p.P207S SLFN13_uc010wch.1_Missense_Mutation_p.P207S|SLFN13_uc002hjl.2_Missense_Mutation_p.P207S|SLFN13_uc002hjm.2_Intron|SLFN13_uc010ctt.2_Intron NM_144682 NP_653283 Q68D06 SLN13_HUMAN Homo sapiens schlafen family member 13 (SLFN13), mRNA. 207 intracellular ATP binding NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1) 31 UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) GGAGACTCAGGAAAAGATAGG 0.328000 50 40 0 0 0.006999 0 0 VN1R4 317703 broad.mit.edu 37 19 53770607 53770607 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:53770607G>A uc010ydu.2 - 0 312 c.312C>T c.(310-312)ttC>ttT p.F104F NM_173857 NP_776256 Q7Z5H5 VN1R4_HUMAN Homo sapiens vomeronasal 1 receptor 4 (VN1R4), mRNA. 104 response to pheromone actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane pheromone receptor activity central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 22 GBM - Glioblastoma multiforme(134;0.00294) TGATCACCTGGAAGACACTCA 0.488000 HNSCC(26;0.072) 19 13 0 0 0.001855 0 0 SLC27A5 10998 broad.mit.edu 37 19 59022207 59022207 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:59022207C>T uc002qtc.2 - 1 889 c.779G>A c.(778-780)gGg>gAg p.G260E NM_012254 NP_036386 Q9Y2P5 S27A5_HUMAN Homo sapiens solute carrier family 27 (fatty acid transporter), member 5 (SLC27A5), mRNA. 260 bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process endoplasmic reticulum membrane|integral to membrane ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 19 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181) AGCCCCCACCCCTGGTGTAGG 0.637000 27 29 0 0 0.007291 0 0 FUT9 10690 broad.mit.edu 37 6 96651295 96651295 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:96651295C>T uc003pop.4 + 2 605 c.264C>T c.(262-264)atC>atT p.I88I FUT9_uc021zcw.1_Silent_p.I88I NM_006581 NP_006572 Q9Y231 FUT9_HUMAN Homo sapiens fucosyltransferase 9 (alpha (1,3) fucosyltransferase) (FUT9), mRNA. 88 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 34 all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356) BRCA - Breast invasive adenocarcinoma(108;0.08) TGTTCAACATCCAAGGATGCC 0.448000 47 36 0 0 0.005524 0 0 PAPPA 5069 broad.mit.edu 37 9 118949457 118949457 + Missense_Mutation SNP T A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr9:118949457T>A uc004bjn.3 + 1 821 c.440T>A c.(439-441)aTc>aAc p.I147N PAPPA_uc011lxp.1_5'UTR|PAPPA_uc011lxq.2_5'UTR NM_002581 NP_002572 Q13219 PAPP1_HUMAN Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA. 147 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 TGTTCTTATATCTCACGTGAC 0.453000 31 34 0 0 0.006230 0 0 C1R 715 broad.mit.edu 37 12 7242713 7242713 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:7242713G>A uc010sfy.2 - 2 422 c.363C>T c.(361-363)tcC>tcT p.S121S C1R_uc010sfz.1_Silent_p.S135S|C1R_uc021quh.1_Silent_p.S10S|C1R_uc010sga.1_Silent_p.S87S NM_001733 NP_001724 P00736 C1R_HUMAN Homo sapiens complement component 1, r subcomponent (C1R), mRNA. 121 CUB 1. complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1) 16 Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) TCTCCTCGTTGGAGAAGTCTG 0.547000 9 7 0 0 0.004482 0 0 DNAJC5G 285126 broad.mit.edu 37 2 27500791 27500791 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:27500791G>A uc002rjl.1 + 3 701 c.283G>A c.(283-285)Gac>Aac p.D95N SLC30A3_uc010ylh.2_5'Flank|DNAJC5G_uc010yli.1_Intron|DNAJC5G_uc002rjm.1_Missense_Mutation_p.D95N NM_173650 NP_775921 Q8N7S2 DNJ5G_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 5 gamma (DNAJC5G), mRNA. 95 J. protein folding membrane heat shock protein binding|unfolded protein binding cervix(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GAAAATTTACGACCAGCATGG 0.418000 36 26 0 0 0.004656 0 0 KALRN 8997 broad.mit.edu 37 3 124175505 124175505 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:124175505C>T uc003ehg.3 + 22 3905 c.3778C>T c.(3778-3780)Cgg>Tgg p.R1260W KALRN_uc010hrv.1_Missense_Mutation_p.R1251W|KALRN_uc003ehf.1_Missense_Mutation_p.R1260W|KALRN_uc011bjy.1_Missense_Mutation_p.R1251W|KALRN_uc003ehh.1_Missense_Mutation_p.R606W NM_001024660 NP_001019831 O60229 KALRN_HUMAN Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA. 1260 apoptosis|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|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity p.R1260R(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 CCTTTCGGATCGGGAGGTCAA 0.537000 44 30 0 0 0.009535 0 0 FANK1 92565 broad.mit.edu 37 10 127677178 127677178 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr10:127677178C>T uc009yan.3 + 2 354 c.250C>T c.(250-252)Cgc>Tgc p.R84C FANK1_uc010quk.1_Missense_Mutation_p.R78C|FANK1_uc001ljh.4_Missense_Mutation_p.R84C|FANK1_uc001lji.3_Missense_Mutation_p.R78C NM_145235 NP_660278 Q8TC84 FANK1_HUMAN Homo sapiens fibronectin type III and ankyrin repeat domains 1 (FANK1), mRNA. 84 Fibronectin type-III. cytoplasm|nucleus p.R84H(1) central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1) 21 all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936) GTACAGATTTCGCCTGAAGGT 0.522000 99 68 0 0 0.014410 0 0 C6orf221 154288 broad.mit.edu 37 6 74072820 74072820 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:74072820C>T uc003pgt.4 + 1 225 c.172C>T c.(172-174)Cgg>Tgg p.R58W NM_001017361 NP_001017361 Q587J8 ECAT1_HUMAN Homo sapiens chromosome 6 open reading frame 221 (C6orf221), mRNA. 58 KH; atypical. NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|stomach(1) 19 CCGCGCAGGCCGGGGCGGAGA 0.612000 42 15 0 0 0.002450 0 0 KRT25 147183 broad.mit.edu 37 17 38911513 38911513 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:38911513C>T uc002hve.3 - 0 72 c.11G>A c.(10-12)cGa>cAa p.R4Q NM_181534 NP_853512 Q7Z3Z0 K1C25_HUMAN Homo sapiens keratin 25 (KRT25), mRNA. 4 Head. cytoplasm|intermediate filament structural molecule activity endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4) 16 Breast(137;0.00526) ACTGGAAAGTCGAAGAGACAT 0.488000 26 16 0 0 0.004990 0 0 RALGDS 5900 broad.mit.edu 37 9 135983586 135983586 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr9:135983586G>A uc004cco.3 - 5 1006 c.986C>T c.(985-987)cCa>cTa p.P329L RALGDS_uc004ccp.3_Non-coding_Transcript|RALGDS_uc004ccq.3_Missense_Mutation_p.P317L|RALGDS_uc004ccr.3_Missense_Mutation_p.P328L|RALGDS_uc011mcv.2_Missense_Mutation_p.P300L|RALGDS_uc004ccs.3_Missense_Mutation_p.P274L|RALGDS_uc011mcw.2_Missense_Mutation_p.P400L|RALGDS_uc004ccv.1_Missense_Mutation_p.P98L|RALGDS_uc004ccu.1_Missense_Mutation_p.P98L NM_006266 NP_006257 Q12967 GNDS_HUMAN Homo sapiens ral guanine nucleotide dissociation stimulator (RALGDS), transcript variant 1, mRNA. 329 Ras protein signal transduction|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction cytosol Ral guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2) 10 OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05) AGCTGGCGCTGGAGCCGATTC 0.587000 T CIITA """PMBL, Hodgkin Lymphona, """ 29 24 0 0 0.014323 0 0 DSG1 1828 broad.mit.edu 37 18 28916319 28916319 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr18:28916319C>T uc002kwp.3 + 8 1220 c.1008C>T c.(1006-1008)ccC>ccT p.P336P NM_001942 NP_001933 Q02413 DSG1_HUMAN Homo sapiens desmoglein 1 (DSG1), mRNA. 336 Cadherin 3. calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 76 OV - Ovarian serous cystadenocarcinoma(10;0.00559) TTTTCTAGCCCTTAGATTATG 0.289000 16 8 0 0 0.003080 0 0 TRIOBP 11078 broad.mit.edu 37 22 38119243 38119243 + Missense_Mutation SNP G C C TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr22:38119243G>C uc003atr.3 + 6 951 c.680G>C c.(679-681)gGa>gCa p.G227A TRIOBP_uc003atu.3_Missense_Mutation_p.G55A|TRIOBP_uc003atq.1_Missense_Mutation_p.G227A|TRIOBP_uc003ats.1_Missense_Mutation_p.G55A NM_001039141 NP_001034230 Q9H2D6 TARA_HUMAN Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA. 227 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) AGGCTCCGGGGAGAAAGCGGG 0.647000 12 9 0 0 0.004482 0 0 FSHR 2492 broad.mit.edu 37 2 49216169 49216169 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:49216169G>A uc002rww.3 - 5 581 c.471C>T c.(469-471)atC>atT p.I157I FSHR_uc010fbn.3_Intron|FSHR_uc002rwx.3_Silent_p.I157I|FSHR_uc010fbo.2_Non-coding_Transcript NM_000145 NP_000136 P23945 FSHR_HUMAN Homo sapiens follicle stimulating hormone receptor (FSHR), transcript variant 1, mRNA. 157 female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) CAATTGTGTGGATGTTTATGT 0.338000 Gonadal Dysgenesis, 46 XX 15 9 0 0 0.008291 0 0 MEIS1 4211 broad.mit.edu 37 2 66691305 66691305 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:66691305C>T uc002sdu.3 + 6 1152 c.695C>T c.(694-696)tCc>tTc p.S232F MEIS1_uc002sdt.3_Missense_Mutation_p.S232F|MEIS1_uc010yqh.2_Non-coding_Transcript|MEIS1_uc010yqi.2_Missense_Mutation_p.S167F|MEIS1_uc002sdw.1_Missense_Mutation_p.S88F NM_002398 NP_002389 O00470 MEIS1_HUMAN Homo sapiens Meis homeobox 1 (MEIS1), mRNA. 232 Ser/Thr-rich. sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1) 24 CCAGGCCCTTCCAGCGGTGGC 0.493000 7 5 0 0 0.000602 0 0 TRPC5 7224 broad.mit.edu 37 X 111195414 111195414 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chrX:111195414C>T uc004epl.1 - 1 1154 c.235G>A c.(235-237)Gag>Aag p.E79K TRPC5_uc004epm.1_Missense_Mutation_p.E79K NM_012471 NP_036603 Q9UL62 TRPC5_HUMAN Homo sapiens transient receptor potential cation channel, subfamily C, member 5 (TRPC5), mRNA. 79 axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 TTCTCGTTCTCAATGGCAATG 0.532000 8 44 0 0 0.013114 0 0 AV8S2 0 broad.mit.edu 37 14 22386781 22386781 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr14:22386781C>T uc001wch.2 + 1 271 c.193C>T c.(193-195)Cct>Tct p.P65S TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|AV8S2_uc010aiy.2_Intron Homo sapiens mRNA for T cell receptor alpha variable 13, partial cds, clone: SEB 7. TGGAAAAGGTCCTCAATTCAT 0.403000 31 17 0 0 0.007413 0 0 CFHR1 3078 broad.mit.edu 37 1 196757478 196757478 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:196757478G>A uc001gtl.3 + 3 650 c.563G>A c.(562-564)gGa>gAa p.G188E CFH_uc021pgt.1_Intron|CFHR1_uc001gtk.3_Missense_Mutation_p.G188E|CFHR1_uc010poy.2_Intron|CFHR1_uc001gtm.3_Intron NM_021023 NP_066303 Q03591 FHR1_HUMAN Homo sapiens complement factor H-related 3 (CFHR3), transcript variant 1, mRNA. 187 Sushi 3. complement activation extracellular space NS(1)|kidney(1)|large_intestine(2)|lung(7) 11 AATTCTTCAGGATCAATTACA 0.323000 39 30 0 0 0.003271 0 0 PRX 57716 broad.mit.edu 37 19 40903777 40903777 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:40903777G>A uc002onr.3 - 6 751 c.482C>T c.(481-483)cCc>cTc p.P161L PRX_uc002onq.3_Missense_Mutation_p.P22L|PRX_uc002ons.3_3'UTR NM_181882 NP_870998 Q9BXM0 PRAX_HUMAN Homo sapiens periaxin (PRX), transcript variant 2, mRNA. 161 Arg/Lys-rich (basic). axon ensheathment cytoplasm|nucleus|plasma membrane protein binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9) 47 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) GGAGAACTTGGGAAAGGAGAA 0.662000 13 12 0 0 0.013537 0 0 XPO5 57510 broad.mit.edu 37 6 43543521 43543521 + Missense_Mutation SNP C A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:43543521C>A uc003ovp.3 - 0 292 c.81G>T c.(79-81)caG>caT p.Q27H POLH_uc010jyu.2_5'Flank|POLH_uc011dvl.1_5'Flank|POLH_uc003ovq.4_5'Flank NM_020750 NP_065801 Q9HAV4 XPO5_HUMAN Homo sapiens exportin 5 (XPO5), mRNA. 27 Necessary for interaction with Ran. gene silencing by RNA cytosol|nucleoplasm protein binding|tRNA binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 34 all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243) all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524) GCCGGTAGCGCTGGGTGGAGT 0.672000 72 49 1.78197e-24 1.91088e-24 0.014410 1 0 SFRP2 6423 broad.mit.edu 37 4 154702656 154702656 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr4:154702656C>T uc003inv.1 - 2 1076 c.835G>A c.(835-837)Ggg>Agg p.G279R NM_003013 NP_003004 Q96HF1 SFRP2_HUMAN Homo sapiens secreted frizzled-related protein 2 (SFRP2), mRNA. 279 NTR. brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development cytoplasm|extracellular matrix|extracellular space|plasma membrane PDZ domain binding|Wnt receptor activity|Wnt-protein binding|fibronectin binding|integrin binding|receptor agonist activity breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 16 all_hematologic(180;0.093) Renal(120;0.117) TCTCTCTGCCCCTTCTGCCAC 0.612000 23 23 0 0 0.003330 0 0 FOXC2 2303 broad.mit.edu 37 16 86601502 86601503 + Missense_Mutation DNP CC TT TT TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr16:86601502_86601503CC>TT uc002fjq.3 + 0 646_647 c.561_562CC>TT c.(559-564)cccccg>ccTTcg p.P188S NM_005251 NP_005242 Q99958 FOXC2_HUMAN Homo sapiens forkhead box C2 (MFH-1, mesenchyme forkhead 1) (FOXC2), mRNA. 188 Notch signaling pathway|anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis transcription factor complex DNA bending activity|chromatin DNA binding|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 15 AGGAGCCGCCCCCGGCGGCGTC 0.698000 Late-onset Hereditary Lymphedema 20 14 0 0 0.004672 0 0 KLHL13 90293 broad.mit.edu 37 X 117079498 117079498 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chrX:117079498G>A uc011mtp.2 - 2 281 c.148C>T c.(148-150)Ctt>Ttt p.L50F KLHL13_uc004eqk.3_5'UTR|KLHL13_uc004eql.3_Missense_Mutation_p.L47F|KLHL13_uc011mtn.2_5'UTR|KLHL13_uc011mto.2_Missense_Mutation_p.L41F|KLHL13_uc011mtq.2_Missense_Mutation_p.L31F|KLHL13_uc004eqm.3_Missense_Mutation_p.L5F|KLHL13_uc022cde.1_Missense_Mutation_p.L31F NM_001168299 NP_001161775 Q9P2N7 KLH13_HUMAN Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA. 47 cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 34 CTGCCTCCAAGGGACAATTTC 0.428000 2 31 0 0 0.009535 0 0 SRRT 51593 broad.mit.edu 37 7 100483874 100483874 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr7:100483874G>A uc003uwy.2 + 12 1732 c.1465G>A c.(1465-1467)Gag>Aag p.E489K SRRT_uc010lhl.1_Missense_Mutation_p.E488K|SRRT_uc003uxa.2_Missense_Mutation_p.E488K|SRRT_uc003uwz.2_Missense_Mutation_p.E489K NM_015908 NP_056992 Q9BXP5 SRRT_HUMAN Homo sapiens serrate RNA effector molecule homolog (Arabidopsis) (SRRT), transcript variant 1, mRNA. 489 cell proliferation|primary miRNA processing|response to arsenic-containing substance cytoplasm|nucleoplasm protein binding breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 CCAGCTCCGGGAGTGTGAGCT 0.582000 26 17 0 0 0.007413 0 0 NES 10763 broad.mit.edu 37 1 156640816 156640816 + Missense_Mutation SNP G T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:156640816G>T uc001fpq.3 - 3 3297 c.3164C>A c.(3163-3165)gCt>gAt p.A1055D NES_uc021pbh.1_5'Flank NM_006617 NP_006608 P48681 NEST_HUMAN Homo sapiens nestin (NES), mRNA. 1055 Tail. G2/M transition of mitotic cell cycle|brain development|embryonic camera-type eye development|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4) 64 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CCCCTGGGGAGCCTGGAGGCC 0.662000 38 44 9.39024e-22 1.00512e-21 0.009718 1 0 CSRP2BP 57325 broad.mit.edu 37 20 18142540 18142540 + Missense_Mutation SNP A T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr20:18142540A>T uc021wbb.1 + 4 1196 c.759A>T c.(757-759)gaA>gaT p.E253D CSRP2BP_uc002wqk.3_Missense_Mutation_p.E125D|CSRP2BP_uc010zru.2_Missense_Mutation_p.E124D NM_020536 NP_065397 Q9H8E8 CSR2B_HUMAN Homo sapiens CSRP2 binding protein (CSRP2BP), transcript variant 1, mRNA. 253 histone H3 acetylation Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm LIM domain binding|N-acetyltransferase activity NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1) 34 ATCCTGTGGAATCTGCCATGG 0.443000 77 49 0 0 0.014410 0 0 CIB3 117286 broad.mit.edu 37 19 16280506 16280506 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:16280506C>T uc002nds.3 - 2 133 c.133G>A c.(133-135)Gac>Aac p.D45N CIB3_uc010eae.3_5'UTR|CIB3_uc010eaf.3_Intron|CIB3_uc010eag.3_Intron NM_054113 NP_473454 Q96Q77 CIB3_HUMAN Homo sapiens calcium and integrin binding family member 3 (CIB3), mRNA. 45 calcium ion binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2) 16 GTGGTATAGTCGAGGGGCACG 0.582000 19 16 0 0 0.006122 0 0 DNAH9 1770 broad.mit.edu 37 17 11713572 11713572 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:11713572G>A uc002gne.3 + 44 8661 c.8593G>A c.(8593-8595)Gcc>Acc p.A2865T DNAH9_uc010coo.3_Missense_Mutation_p.A2159T NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA. 2865 AAA 4 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity 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) GATGGACCTGGCCAGCCTGTG 0.448000 46 35 0 0 0.003755 0 0 FBXO43 286151 broad.mit.edu 37 8 101146506 101146506 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr8:101146506C>T uc003yjd.3 - 3 2497 c.1761G>A c.(1759-1761)agG>agA p.R587R FBXO43_uc003yje.3_Silent_p.R553R NM_001029860 NP_001025031 Q4G163 FBX43_HUMAN Homo sapiens F-box protein 43 (FBXO43), transcript variant 2, mRNA. 587 meiosis zinc ion binding endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1) 31 all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798) Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957) AACCAGGTATCCTAGCCTGTG 0.478000 59 36 0 0 0.005524 0 0 CNTN4 152330 broad.mit.edu 37 3 2928860 2928860 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:2928860G>A uc003bpc.3 + 9 1231 c.892G>A c.(892-894)Gaa>Aaa p.E298K CNTN4_uc003bpb.1_5'UTR|CNTN4_uc021wsg.1_Missense_Mutation_p.E298K|CNTN4_uc003bpd.1_Missense_Mutation_p.E298K NM_175607 NP_783302 Q8IWV2 CNTN4_HUMAN Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA. 298 Ig-like C2-type 3. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) ATGTGTAGCTGAAAATTCCAG 0.378000 17 7 0 0 0.003080 0 0 TACC2 10579 broad.mit.edu 37 10 123848060 123848060 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr10:123848060G>A uc001lfv.3 + 4 5887 c.5527G>A c.(5527-5529)Gat>Aat p.D1843N TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Missense_Mutation_p.D1843N|TACC2_uc010qtv.2_Missense_Mutation_p.D1843N NM_206862 NP_996744 O95359 TACC2_HUMAN Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA. 1843 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) AAGAGTCATGGATAAAGTCAC 0.458000 26 15 0 0 0.004990 0 0 PLCL2 23228 broad.mit.edu 37 3 17053118 17053118 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:17053118C>T uc011awc.2 + 2 2352 c.2256C>T c.(2254-2256)atC>atT p.I752I PLCL2_uc011awd.2_Silent_p.I634I NM_001144382 NP_001137854 Q9UPR0 PLCL2_HUMAN Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA. 760 C2. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity p.H751Q(1) breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 43 ACATTAAAATCATCAGTGGGC 0.488000 18 12 0 0 0.010729 0 0 GPC6 10082 broad.mit.edu 37 13 95055279 95055279 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr13:95055279C>T uc001vlt.3 + 8 2108 c.1476C>T c.(1474-1476)tcC>tcT p.S492S NM_005708 NP_005699 Q9Y625 GPC6_HUMAN Homo sapiens glypican 6 (GPC6), mRNA. 492 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 38 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217) GTGATGAATCCAGTGGCTCAG 0.512000 98 74 0 0 0.014410 0 0 PSG3 5671 broad.mit.edu 37 19 43237134 43237134 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:43237134G>A uc002oue.3 - 2 643 c.511C>T c.(511-513)Cct>Tct p.P171S PSG3_uc002ouf.3_Non-coding_Transcript|PSG3_uc002oug.1_Intron NM_021016 NP_066296 Q16557 PSG3_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 3 (PSG3), mRNA. 171 Ig-like C2-type 1. defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 36 Prostate(69;0.00682) GGAGTCTCAGGATCACAGGTT 0.522000 112 70 0 0 0.014410 0 0 ZNF582 147948 broad.mit.edu 37 19 56896237 56896237 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:56896237C>T uc002qmy.3 - 4 935 c.642G>A c.(640-642)aaG>aaA p.K214K ZNF582_uc002qmz.1_Silent_p.K183K NM_144690 NP_653291 Q96NG8 ZN582_HUMAN Homo sapiens zinc finger protein 582 (ZNF582), mRNA. 183 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R213Q(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0547) TAAGGAGTTCCTTTTGCCAGA 0.338000 29 24 0 0 0.014323 0 0 RPS6KA1 6195 broad.mit.edu 37 1 26877903 26877903 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:26877903G>A uc001bmr.1 + 4 486 c.323G>A c.(322-324)cGg>cAg p.R108Q RPS6KA1_uc010ofe.1_Missense_Mutation_p.R16Q|RPS6KA1_uc010off.1_Missense_Mutation_p.R92Q|RPS6KA1_uc001bms.1_Missense_Mutation_p.R117Q|RPS6KA1_uc009vsl.1_5'UTR NM_002953 NP_002944 Q15418 KS6A1_HUMAN Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 1 (RPS6KA1), transcript variant 1, mRNA. 108 Protein kinase 1. MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|axon guidance|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity lung(1) 1 all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234) GACCGCGTCCGGACCAAGATG 0.552000 7 35 0 0 0.004289 0 0 CPA6 57094 broad.mit.edu 37 8 68658271 68658271 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr8:68658271G>A uc003xxq.4 - 0 350 c.94C>T c.(94-96)Ctt>Ttt p.L32F CPA6_uc003xxr.4_5'UTR|CPA6_uc003xxs.2_Missense_Mutation_p.L32F NM_020361 NP_065094 Q8N4T0 CBPA6_HUMAN Homo sapiens carboxypeptidase A6 (CPA6), mRNA. 32 proteolysis proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5) 26 Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136) TTGTTATAAAGGTGGCTGTGC 0.532000 21 19 0 0 0.012319 0 0 ACSF3 197322 broad.mit.edu 37 16 89199645 89199645 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr16:89199645C>T uc010cig.2 + 6 1549 c.1341C>T c.(1339-1341)ttC>ttT p.F447F ACSF3_uc010cih.2_Silent_p.F182F|ACSF3_uc002fmp.3_Silent_p.F447F|ACSF3_uc021tmq.1_Silent_p.F447F|ACSF3_uc010cii.2_Non-coding_Transcript NM_001127214 NP_777577 Q4G176 ACSF3_HUMAN Homo sapiens acyl-CoA synthetase family member 3 (ACSF3), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA. 447 fatty acid metabolic process mitochondrion ATP binding|acid-thiol ligase activity central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1) 15 BRCA - Breast invasive adenocarcinoma(80;0.0281) AGAGTGCATTCACCCTGGATG 0.557000 27 24 0 0 0.014323 0 0 NBPF10 100132406 broad.mit.edu 37 1 144619399 144619399 + Silent SNP G A A rs4067645 by1000genomes TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:144619399G>A uc009wig.1 + 5 734 c.540G>A c.(538-540)gtG>gtA p.V180V NBPF10_uc010oxo.1_Silent_p.V182V|NBPF10_uc010oxn.1_Intron|NBPF10_uc021oth.1_Intron|NBPF10_uc021otj.1_Intron|NBPF10_uc021oto.1_Intron|NBPF10_uc021otr.1_Intron|NBPF10_uc021ots.1_Intron|NBPF10_uc021otv.1_Intron|NBPF10_uc001ekk.1_Intron|NBPF10_uc010oyd.1_Intron|NBPF10_uc010oye.2_Silent_p.V113V|NBPF10_uc001eli.3_Non-coding_Transcript|NBPF10_uc009wii.1_Intron NM_001037675 NP_001032764 A6NDV3 A6NDV3_HUMAN Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA. 182 p.A179D(2) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) ATGAGAAAGTGCAGAAATCAT 0.413000 247 6 0 0 0.001168 0 0 DBX2 440097 broad.mit.edu 37 12 45410267 45410267 + Silent SNP A T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:45410267A>T uc001rok.1 - 3 994 c.822T>A c.(820-822)tcT>tcA p.S274S NM_001004329 NP_001004329 Q6ZNG2 DBX2_HUMAN Homo sapiens developing brain homeobox 2 (DBX2), mRNA. 274 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 22 Lung SC(27;0.192) Lung NSC(34;0.142) GBM - Glioblastoma multiforme(48;0.0515) AAGGACATGGAGAAGGGAAAC 0.493000 57 41 0 0 0.009718 0 0 abParts 0 broad.mit.edu 37 14 107083659 107083659 + RNA SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr14:107083659G>A uc021ser.1 - 129 c.5592C>T Parts of antibodies, mostly variable regions. CTGCCACCAGGAGAAGGAAGA 0.502000 33 13 0 0 0.001855 0 0 CELA3B 23436 broad.mit.edu 37 1 22333991 22333991 + Missense_Mutation SNP A G G TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:22333991A>G uc001bfl.3 + 5 644 c.625A>G c.(625-627)Atc>Gtc p.I209V NM_005747 NP_005738 P08861 CEL3B_HUMAN Homo sapiens chymotrypsin-like elastase family, member 3A (CELA3A), mRNA. 209 Peptidase S1. cholesterol metabolic process|proteolysis extracellular region serine-type endopeptidase activity breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1) 8 TGGAGGGTACATCCGCTCCGG 0.617000 74 4 0 0 0.003080 0 0 KBTBD8 84541 broad.mit.edu 37 3 67058398 67058398 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:67058398C>T uc003dmy.3 + 3 1448 c.1395C>T c.(1393-1395)acC>acT p.T465T KBTBD8_uc011bfv.2_Silent_p.T23T NM_032505 NP_115894 Q8NFY9 KBTB8_HUMAN Homo sapiens kelch repeat and BTB (POZ) domain containing 8 (KBTBD8), mRNA. 465 breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1) 20 Lung NSC(201;0.0765) BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125) GTTTCTTAACCCCCATGACTG 0.363000 46 33 0 0 0.006230 0 0 PLCB1 23236 broad.mit.edu 37 20 8678363 8678363 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr20:8678363G>A uc002wnb.3 + 10 1103 c.1100G>A c.(1099-1101)gGa>gAa p.G367E PLCB1_uc010zrb.1_Missense_Mutation_p.G266E|PLCB1_uc002wna.3_Missense_Mutation_p.G367E|PLCB1_uc002wnc.1_Missense_Mutation_p.G266E NM_015192 NP_056007 Q9NQ66 PLCB1_HUMAN Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA. 367 PI-PLC X-box. CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission cytosol|nuclear chromatin|nuclear speck GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95 TGCTGGAAGGGACGGACTGCA 0.488000 47 55 0 0 0.014410 0 0 CUX2 23316 broad.mit.edu 37 12 111745042 111745042 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:111745042G>A uc001tsa.2 + 11 1244 c.1090G>A c.(1090-1092)Gaa>Aaa p.E364K NM_015267 NP_056082 O14529 CUX2_HUMAN Homo sapiens cut-like homeobox 2 (CUX2), mRNA. 364 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 TGACTATGAGGAAATTAAAAC 0.552000 32 24 0 0 0.006320 0 0 NLK 51701 broad.mit.edu 37 17 26519196 26519196 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:26519196C>T uc010crj.3 + 9 1698 c.1486C>T c.(1486-1488)Ctc>Ttc p.L496F NM_016231 NP_057315 Q9UBE8 NLK_HUMAN Homo sapiens nemo-like kinase (NLK), mRNA. 496 Wnt receptor signaling pathway|intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytoplasm|nucleus ATP binding|MAP kinase activity|SH2 domain binding|magnesium ion binding|transcription factor binding|ubiquitin protein ligase binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1) 14 all_lung(13;0.000343)|Lung NSC(42;0.00184) UCEC - Uterine corpus endometrioid carcinoma (53;0.168) CAGAGTGCCTCTCTGCATCAA 0.373000 9 8 0 0 0.006214 0 0 NKX2-2 4821 broad.mit.edu 37 20 21492579 21492579 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr20:21492579G>A uc002wsi.3 - 1 1161 c.804C>T c.(802-804)gcC>gcT p.A268A NM_002509 NP_002500 O95096 NKX22_HUMAN Homo sapiens NK2 homeobox 2 (NKX2-2), mRNA. 268 brain development|positive regulation of sequence-specific DNA binding transcription factor activity nucleus chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 21 TCCACTGCTGGGCCTGGACCA 0.711000 60 39 0 0 0.014410 0 0 MEP1A 4224 broad.mit.edu 37 6 46766888 46766888 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:46766888C>T uc011dwh.1 + 3 324 c.316C>T c.(316-318)Ccc>Tcc p.P106S MEP1A_uc010jzh.1_Missense_Mutation_p.P78S|MEP1A_uc011dwg.1_5'UTR|MEP1A_uc011dwi.1_5'UTR NM_005588 NP_005579 Q16819 MEP1A_HUMAN Homo sapiens meprin A, alpha (PABA peptide hydrolase) (MEP1A), mRNA. 78 Metalloprotease. digestion|proteolysis extracellular space|integral to plasma membrane|soluble fraction metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 Lung(136;0.192) GTGGACGTTCCCCATTCCTTA 0.443000 28 18 0 0 0.008871 0 0 THOC7 80145 broad.mit.edu 37 3 63823682 63823682 + Nonsense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:63823682G>A uc003dlt.4 - 3 453 c.322C>T c.(322-324)Caa>Taa p.Q108* C3orf49_uc003dls.4_Intron|THOC7_uc003dlu.4_Nonsense_Mutation_p.Q45* NM_025075 NP_079351 Q6I9Y2 THOC7_HUMAN Homo sapiens THO complex 7 homolog (Drosophila) (THOC7), mRNA. 108 Interaction with NIF3L1.|Interaction with THOC5. RNA splicing|intronless viral mRNA export from host nucleus|mRNA processing THO complex part of transcription export complex|cytoplasm RNA binding|protein binding central_nervous_system(1)|large_intestine(1)|ovary(1)|pancreas(1) 4 BRCA - Breast invasive adenocarcinoma(55;0.000439)|Kidney(15;0.00194)|KIRC - Kidney renal clear cell carcinoma(15;0.00218) CGTTTTGCTTGAAGAATTTGC 0.318000 38 22 0 0 0.003954 0 0 C2orf78 388960 broad.mit.edu 37 2 74041328 74041328 + Silent SNP A G G TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:74041328A>G uc002sjr.1 + 1 943 c.822A>G c.(820-822)caA>caG p.Q274Q NM_001080474 NP_001073943 A6NCI8 CB078_HUMAN Homo sapiens chromosome 2 open reading frame 78 (C2orf78), mRNA. 274 p.Q274E(1) cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1) 34 TGTCTTCTCAACCCATCACAG 0.463000 63 43 0 0 0.014410 0 0 ZC3H3 23144 broad.mit.edu 37 8 144620785 144620785 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr8:144620785G>A uc003yyd.2 - 1 781 c.752C>T c.(751-753)tCc>tTc p.S251F NM_015117 NP_055932 Q8IXZ2 ZC3H3_HUMAN Homo sapiens zinc finger CCCH-type containing 3 (ZC3H3), mRNA. 251 mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus nucleus nucleic acid binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107) GCTGGCCACGGAATGAGAACC 0.642000 38 20 0 0 0.007413 0 0 CALCRL 10203 broad.mit.edu 37 2 188211048 188211048 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:188211048G>A uc010frt.3 - 13 1632 c.1249C>T c.(1249-1251)Cgt>Tgt p.R417C CALCRL_uc002upv.4_Missense_Mutation_p.R417C NM_005795 NP_005786 Q16602 CALRL_HUMAN Homo sapiens calcitonin receptor-like (CALCRL), mRNA. 417 integral to plasma membrane endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1) 32 OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227) GACGCACTACGAAGAGCTTCT 0.378000 21 12 0 0 0.013537 0 0 OR9K2 441639 broad.mit.edu 37 12 55524300 55524300 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:55524300G>A uc010spe.2 + 0 748 c.748G>A c.(748-750)Gtt>Att p.V250I NM_001005243 NP_001005243 Q8NGE7 OR9K2_HUMAN Homo sapiens olfactory receptor, family 9, subfamily K, member 2 (OR9K2), mRNA. 250 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2) 31 TGTGTCCACAGTTCTAAAGAT 0.368000 48 25 0 0 0.005443 0 0 CSMD3 114788 broad.mit.edu 37 8 113303898 113303898 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr8:113303898G>A uc003ynu.3 - 55 8974 c.8815C>T c.(8815-8817)Cca>Tca p.P2939S CSMD3_uc003yns.3_Missense_Mutation_p.P2141S|CSMD3_uc003ynt.3_Missense_Mutation_p.P2899S|CSMD3_uc011lhx.2_Missense_Mutation_p.P2770S NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA. 2939 Sushi 20. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 GAATTGGCTGGAATTCCAGGA 0.294000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 40 25 0 0 0.006320 0 0 C14orf166B 145497 broad.mit.edu 37 14 77294698 77294698 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr14:77294698C>T uc001xsx.2 + 1 267 c.153C>T c.(151-153)tcC>tcT p.S51S C14orf166B_uc010asn.1_5'UTR|C14orf166B_uc001xsw.2_Non-coding_Transcript|C14orf166B_uc010aso.1_Non-coding_Transcript|C14orf166B_uc010tvg.1_Non-coding_Transcript|C14orf166B_uc010tvh.1_5'Flank NM_194287 NP_919263 Q0VAA2 CN16B_HUMAN Homo sapiens chromosome 14 open reading frame 166B (C14orf166B), mRNA. 51 breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1) 18 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0306) AGGCCGAATCCCCGCCGACTG 0.502000 29 29 0 0 0.008361 0 0 ZNF493 284443 broad.mit.edu 37 19 21607153 21607153 + Missense_Mutation SNP G T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:21607153G>T uc002npw.3 + 3 1811 c.1692G>T c.(1690-1692)aaG>aaT p.K564N ZNF493_uc002npx.3_Missense_Mutation_p.K436N|ZNF493_uc002npy.3_Missense_Mutation_p.K436N|ZNF493_uc021urq.1_Missense_Mutation_p.K436N NM_001076678 NP_787106 Q6ZR52 ZN493_HUMAN Homo sapiens zinc finger protein 493 (ZNF493), transcript variant 3, mRNA. 436 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 30 CTACACATAAGAGAATTCATA 0.353000 7 6 3.59834e-05 3.76892e-05 0.001168 1 0 IGFL3 388555 broad.mit.edu 37 19 46627345 46627345 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:46627345G>A uc002pea.1 - 2 173 c.148C>T c.(148-150)Cct>Tct p.P50S NM_207393 NP_997276 Q6UXB1 IGFL3_HUMAN Homo sapiens IGF-like family member 3 (IGFL3), mRNA. 50 extracellular region protein binding endometrium(1)|large_intestine(1)|lung(5) 7 Ovarian(192;0.0175)|all_neural(266;0.0476) OV - Ovarian serous cystadenocarcinoma(262;0.00473)|GBM - Glioblastoma multiforme(486;0.0149)|Epithelial(262;0.239) TGCTCTGAAGGGTTGTAGATC 0.562000 45 41 0 0 0.006230 0 0 DSP 1832 broad.mit.edu 37 6 7578051 7578051 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:7578051G>A uc003mxp.1 + 20 3196 c.2917G>A c.(2917-2919)Gaa>Aaa p.E973K DSP_uc003mxq.1_Missense_Mutation_p.E973K|DSP_uc021yle.1_Missense_Mutation_p.E973K NM_004415 NP_004406 P15924 DESP_HUMAN Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA. 973 Globular 1. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) CTCAGGACTGGAAACTCTGCT 0.418000 11 108 0 0 0.014410 0 0 C12orf36 283422 broad.mit.edu 37 12 13526349 13526349 + Missense_Mutation SNP G A A rs143075618 byFrequency TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:13526349G>A uc001rbs.2 - 2 458 c.206C>T c.(205-207)tCg>tTg p.S69L Homo sapiens chromosome 12 open reading frame 36 (C12orf36), non-coding RNA. lung(3)|skin(3) 6 BRCA - Breast invasive adenocarcinoma(232;0.198) TCCAGGGAACGATTCCTCATT 0.453000 35 32 0 0 0.010818 0 0 CRAMP1L 57585 broad.mit.edu 37 16 1719012 1719012 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr16:1719012C>T uc010uvh.2 + 17 3345 c.3345C>T c.(3343-3345)gtC>gtT p.V1115V CRAMP1L_uc002cmf.3_Non-coding_Transcript NM_020825 NP_065876 Q96RY5 CRML_HUMAN Homo sapiens Crm, cramped-like (Drosophila) (CRAMP1L), mRNA. 1115 Ser-rich. nucleus DNA binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1) 22 GTGAAGGAGTCCCTCTTTCTC 0.592000 11 17 0 0 0.006122 0 0 CHD9 80205 broad.mit.edu 37 16 53279686 53279686 + Silent SNP A T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr16:53279686A>T uc002ehb.3 + 13 3542 c.3378A>T c.(3376-3378)ggA>ggT p.G1126G CHD9_uc002egy.3_Silent_p.G1126G|CHD9_uc002ehc.3_Silent_p.G1126G|CHD9_uc002ehf.3_Silent_p.G240G|CHD9_uc002ehg.2_Silent_p.G240G|CHD9_uc002ehd.2_Silent_p.G652G|CHD9_uc002ehe.1_Silent_p.G240G NM_025134 NP_079410 Q3L8U1 CHD9_HUMAN Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA. 1126 cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 78 all_cancers(37;0.0212) AAGGAGCAGGACAAACTAATG 0.323000 18 23 0 0 0.014323 0 0 UGT2B4 7363 broad.mit.edu 37 4 70361039 70361039 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr4:70361039C>T uc003hek.4 - 0 588 c.541G>A c.(541-543)Gaa>Aaa p.E181K UGT2B4_uc011cap.2_Missense_Mutation_p.E45K|UGT2B4_uc003hel.4_Missense_Mutation_p.E181K NM_021139 NP_066962 P06133 UD2B4_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA. 181 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 47 CTATGCTTTTCAATTGCGTAG 0.443000 20 28 0 0 0.005443 0 0 AOC3 8639 broad.mit.edu 37 17 41004371 41004371 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:41004371C>T uc002ibv.3 + 0 1171 c.1011C>T c.(1009-1011)ttC>ttT p.F337F NM_003734 NP_003725 Q16853 AOC3_HUMAN Homo sapiens amine oxidase, copper containing 3 (vascular adhesion protein 1) (AOC3), mRNA. 337 amine metabolic process|cell adhesion|inflammatory response cell surface|integral to membrane|plasma membrane aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8) 41 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.156) Hydralazine(DB01275)|Phenelzine(DB00780) TGTGGACTTTCTCCTTTGGCC 0.577000 26 28 0 0 0.006320 0 0 DUOX2 50506 broad.mit.edu 37 15 45386440 45386440 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr15:45386440G>A uc001zun.3 - 33 4758 c.4555C>T c.(4555-4557)Cct>Tct p.P1519S DUOX2_uc010bea.3_Missense_Mutation_p.P1519S NM_014080 NP_054799 Q9NRD8 DUOX2_HUMAN Homo sapiens dual oxidase 2 (DUOX2), mRNA. 1519 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 NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity 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) ATTCCTGGAGGGCCGCAGCTG 0.567000 34 18 0 0 0.007413 0 0 ZNF831 128611 broad.mit.edu 37 20 57768375 57768375 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr20:57768375C>T uc002yan.3 + 0 2301 c.2301C>T c.(2299-2301)ccC>ccT p.P767P NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN Homo sapiens zinc finger protein 831 (ZNF831), mRNA. 767 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) CACCTGGCCCCCTCAAAGGGG 0.642000 20 11 0 0 0.010729 0 0 ZSCAN1 284312 broad.mit.edu 37 19 58565116 58565116 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:58565116C>T uc002qrc.1 + 5 1171 c.924C>T c.(922-924)atC>atT p.I308I NM_182572 NP_872378 Q8NBB4 ZSCA1_HUMAN Homo sapiens zinc finger and SCAN domain containing 1 (ZSCAN1), mRNA. 308 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) CCCACTTCATCGAGCACCAGA 0.632000 35 26 0 0 0.006320 0 0 NAALAD2 10003 broad.mit.edu 37 11 89892443 89892443 + Nonsense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:89892443G>A uc001pdf.4 + 7 1036 c.927G>A c.(925-927)tgG>tgA p.W309* NAALAD2_uc009yvx.3_Intron|NAALAD2_uc009yvy.3_Intron|NAALAD2_uc001pdd.2_3'UTR|NAALAD2_uc001pde.3_Intron NM_005467 NP_005458 Q9Y3Q0 NALD2_HUMAN Homo sapiens N-acetylated alpha-linked acidic dipeptidase 2 (NAALAD2), mRNA. 309 NAALADase. proteolysis integral to membrane carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2) 59 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) ATAAGAGTTGGAAGGGAGCCC 0.363000 28 19 0 0 0.014323 0 0 STAB1 23166 broad.mit.edu 37 3 52556346 52556346 + Splice_Site SNP A G G TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:52556346A>G uc003dej.3 + 60 6540 c.6466_splice c.e60-1 p.N2156_splice STAB1_uc003dek.1_Splice_Site_p.N171_splice|STAB1_uc003del.3_Splice_Site_p.N43_splice NM_015136 NP_055951 Q9NY15 STAB1_HUMAN Homo sapiens stabilin 1 (STAB1), mRNA. 2156 EGF-like 16. cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) CCAACCCCAGAACACACGGCG 0.652000 34 23 0 0 0.014323 0 0 TRPM6 140803 broad.mit.edu 37 9 77370359 77370359 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr9:77370359C>T uc004ajl.1 - 27 5054 c.4816G>A c.(4816-4818)Gac>Aac p.D1606N TRPM6_uc004ajk.1_Missense_Mutation_p.D1601N|TRPM6_uc022bib.1_Missense_Mutation_p.D1601N|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Missense_Mutation_p.D557N|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Missense_Mutation_p.D562N NM_017662 NP_060132 Q9BX84 TRPM6_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA. 1606 response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 TTCAACTGGTCACTCTGAGAG 0.428000 35 24 0 0 0.002780 0 0 TBC1D3 729873 broad.mit.edu 37 17 36288236 36288236 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr17:36288236G>A uc010wdk.1 + 4 506 c.505G>A c.(505-507)Ggc>Agc p.G169S TBC1D3_uc002hoo.2_Missense_Mutation_p.G108S|TBC1D3_uc002hop.2_Non-coding_Transcript|TBC1D3_uc010wdj.1_Missense_Mutation_p.G28S|TBC1D3_uc010cvf.1_Missense_Mutation_p.G108S|TBC1D3_uc002hoq.2_Missense_Mutation_p.G108S|DQ586040_uc002hpl.3_5'Flank|DQ587906_uc002hor.3_5'Flank|DQ585853_uc021tvy.1_5'Flank NM_032258 NP_115634 Q8IZP1 TBC3A_HUMAN Homo sapiens TBC1 domain family, member 3F (TBC1D3F), mRNA. 108 Rab-GAP TBC. intracellular Rab GTPase activator activity breast(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 5 Breast(7;2.97e-12) Breast(25;0.102)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) GAACATCCGGGGCCCGATGTG 0.557000 674 69 0 0 0.014410 0 0 C3orf39 84892 broad.mit.edu 37 3 43122023 43122023 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:43122023G>A uc003cmr.1 - 1 1244 c.901C>T c.(901-903)Ctg>Ttg p.L301L C3orf39_uc003cmq.1_Silent_p.L301L|C3orf39_uc021wwn.1_Silent_p.L301L NM_032806 NP_116195 Q8NAT1 AGO61_HUMAN Homo sapiens chromosome 3 open reading frame 39 (C3orf39), mRNA. 301 extracellular region transferase activity, transferring glycosyl groups cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 26 KIRC - Kidney renal clear cell carcinoma(284;0.0571)|Kidney(284;0.0718) GCCTCATTCAGAATGAGTCTG 0.552000 22 25 0 0 0.003330 0 0 KRT84 3890 broad.mit.edu 37 12 52777539 52777539 + Nonsense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:52777539C>T uc001sah.1 - 1 638 c.590G>A c.(589-591)tGg>tAg p.W197* NM_033045 NP_149034 Q9NSB2 KRT84_HUMAN Homo sapiens keratin 84 (KRT84), mRNA. 197 Coil 1A.|Rod. keratin filament structural constituent of epidermis breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3) 27 all_hematologic(5;0.12) BRCA - Breast invasive adenocarcinoma(357;0.189) GAGGAAGCTCCACTTGGTCTC 0.507000 32 30 0 0 0.012213 0 0 PHACTR1 221692 broad.mit.edu 37 6 12718995 12718995 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:12718995G>A uc003nah.2 + 2 392 c.19G>A c.(19-21)Gat>Aat p.D7N PHACTR1_uc011dir.2_Missense_Mutation_p.D7N|PHACTR1_uc010jpc.3_Missense_Mutation_p.D7N|PHACTR1_uc003nag.2_Missense_Mutation_p.D7N|PHACTR1_uc003nai.3_Missense_Mutation_p.D7N NM_030948 NP_112210 Q9C0D0 PHAR1_HUMAN Homo sapiens phosphatase and actin regulator 1 (PHACTR1), transcript variant 1, mRNA. 7 cell junction|cytoplasm|synapse actin binding|protein phosphatase inhibitor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 26 Breast(50;0.0427)|Ovarian(93;0.12) all_hematologic(90;0.122)|Lung SC(78;0.195) Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239) TCCCAAAATGGATTATTTTCT 0.353000 30 215 0 0 0.014410 0 0 ARHGAP25 9938 broad.mit.edu 37 2 69015058 69015058 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:69015058C>T uc010fdg.3 + 3 855 c.436C>T c.(436-438)Ctc>Ttc p.L146F ARHGAP25_uc010yqk.2_Missense_Mutation_p.L120F|ARHGAP25_uc010yql.2_Intron|ARHGAP25_uc002sev.3_Missense_Mutation_p.L139F|ARHGAP25_uc002sew.3_Missense_Mutation_p.L139F|ARHGAP25_uc002sex.3_Missense_Mutation_p.L139F|ARHGAP25_uc010fdh.1_Non-coding_Transcript NM_001007231 NP_001007232 P42331 RHG25_HUMAN Homo sapiens Rho GTPase activating protein 25 (ARHGAP25), transcript variant 1, mRNA. 146 PH. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 52 GGTTAAATTCCTCAGGAGAGT 0.547000 38 30 0 0 0.006320 0 0 PVRL1 5818 broad.mit.edu 37 11 119549429 119549429 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:119549429G>A uc001pwv.3 - 1 298 c.126C>T c.(124-126)ttC>ttT p.F42F PVRL1_uc001pwu.1_Silent_p.F42F|PVRL1_uc001pww.3_Silent_p.F42F NM_002855 NP_002846 Q15223 PVRL1_HUMAN Homo sapiens poliovirus receptor-related 1 (herpesvirus entry mediator C) (PVRL1), transcript variant 1, mRNA. 42 Ig-like V-type. adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response cell-cell adherens junction|extracellular region|integral to membrane cell adhesion molecule binding|coreceptor activity|protein homodimerization activity breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.29e-05) CTGTGCCGATGAAGCCATACA 0.607000 5 8 0 0 0.003080 0 0 MC3R 4159 broad.mit.edu 37 20 54824280 54824281 + Silent DNP CC TT TT TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr20:54824280_54824281CC>TT uc002xxb.2 + 0 493_494 c.381_382CC>TT c.(379-384)tccctg>tcTTtg p.127_128SL>SL NM_019888 NP_063941 P41968 MC3R_HUMAN Homo sapiens melanocortin 3 receptor (MC3R), mRNA. 164 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1) 26 Colorectal(105;0.202) TCTGCATCTCCCTGGTGGCCTC 0.559000 47 34 0 0 0.004672 0 0 RNLS 55328 broad.mit.edu 37 10 90034757 90034757 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr10:90034757C>T uc001kfd.2 - 6 1044 c.909G>A c.(907-909)gcG>gcA p.A303A RNLS_uc010qms.1_Silent_p.A220A NM_018363 NP_060833 Q5VYX0 RNLS_HUMAN Homo sapiens renalase, FAD-dependent amine oxidase (RNLS), transcript variant 2, mRNA. 0 extracellular region oxidoreductase activity breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1) 7 AGGGGCTCTTCGCACATCCTA 0.448000 31 17 0 0 0.010504 0 0 NAPEPLD 222236 broad.mit.edu 37 7 102760641 102760641 + Missense_Mutation SNP C A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr7:102760641C>A uc011klj.1 - 2 622 c.543G>T c.(541-543)aaG>aaT p.K181N NAPEPLD_uc003vbd.2_Missense_Mutation_p.K108N|NAPEPLD_uc003vbc.2_Missense_Mutation_p.K108N|NAPEPLD_uc003vbe.2_Non-coding_Transcript NM_198990 NP_945341 Q6IQ20 NAPEP_HUMAN Homo sapiens N-acyl phosphatidylethanolamine phospholipase D (NAPEPLD), transcript variant 2, mRNA. 108 phospholipid catabolic process membrane metal ion binding endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 TAAAATATGGCTTAAGCACTG 0.403000 67 33 3.03874e-20 3.24668e-20 0.003271 1 0 OR10A6 390093 broad.mit.edu 37 11 7950066 7950066 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:7950066G>A uc010rbh.2 - 0 144 c.144C>T c.(142-144)atC>atT p.I48I NM_001004461 NP_001004461 Q8NH74 O10A6_HUMAN Homo sapiens olfactory receptor, family 10, subfamily A, member 6 (OR10A6), mRNA. 48 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 22 Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) CTAGGGAGACGATGACTATAA 0.468000 45 43 0 0 0.009718 0 0 DHTKD1 55526 broad.mit.edu 37 10 12143169 12143169 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr10:12143169G>A uc001ild.4 + 9 1984 c.1885G>A c.(1885-1887)Ggg>Agg p.G629R NM_018706 NP_061176 Q96HY7 DHTK1_HUMAN Homo sapiens dehydrogenase E1 and transketolase domain containing 1 (DHTKD1), nuclear gene encoding mitochondrial protein, mRNA. 629 glycolysis mitochondrion oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1) 44 Renal(717;0.228) BRCA - Breast invasive adenocarcinoma(52;0.188) AAATCAGAAGGGGTTTCTAGA 0.473000 149 83 0 0 0.014410 0 0 SYT16 83851 broad.mit.edu 37 14 62551057 62551057 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr14:62551057G>A uc001xfu.1 + 4 1775 c.1578G>A c.(1576-1578)atG>atA p.M526I SYT16_uc010tse.1_Missense_Mutation_p.M84I NM_031914 NP_114120 Q17RD7 SYT16_HUMAN Homo sapiens synaptotagmin XVI (SYT16), mRNA. 526 C2 2. central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118) CTGTGGAAATGATCAAAGGCA 0.537000 22 22 0 0 0.010504 0 0 OR8B4 283162 broad.mit.edu 37 11 124293858 124293858 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:124293858G>A uc010sak.2 - 0 910 c.910C>T c.(910-912)Ctg>Ttg p.L304L NM_001005196 NP_001005196 Q96RC9 OR8B4_HUMAN Homo sapiens olfactory receptor, family 8, subfamily B, member 4 (OR8B4), mRNA. 304 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L304M(2) endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1) 32 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) ACTCTCTTCAGGGTTTTGCCC 0.433000 13 14 0 0 0.002450 0 0 MLL3 58508 broad.mit.edu 37 7 151851222 151851222 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr7:151851222G>A uc003wla.3 - 47 12368 c.12149C>T c.(12148-12150)tCa>tTa p.S4050L MLL3_uc003wkz.3_Missense_Mutation_p.S3168L|MLL3_uc003wkx.3_Missense_Mutation_p.S208L|MLL3_uc003wky.3_Missense_Mutation_p.S1614L NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA. 4050 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding p.S4050*(2)|p.S4050S(1)|p.S4107*(1) NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15) 365 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) ATTCCTTCTTGATTCTGAACC 0.348000 N medulloblastoma 18 14 0 0 0.002450 0 0 PLEKHG6 55200 broad.mit.edu 37 12 6422940 6422940 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:6422940C>T uc001qnr.3 + 2 432 c.284C>T c.(283-285)cCc>cTc p.P95L PLEKHG6_uc001qns.3_Missense_Mutation_p.P95L|PLEKHG6_uc010sew.2_Missense_Mutation_p.P95L|PLEKHG6_uc010sex.2_Missense_Mutation_p.P63L NM_018173 NP_060643 Q3KR16 PKHG6_HUMAN Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 6 (PLEKHG6), transcript variant 1, mRNA. 95 regulation of Rho protein signal transduction cleavage furrow|cytoplasm|spindle pole GTPase activator activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4) 23 CTTCACTCCCCCAAACTCAAG 0.637000 33 32 0 0 0.013726 0 0 NR1I3 9970 broad.mit.edu 37 1 161200676 161200676 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:161200676C>T uc001fzx.3 - 7 1059 c.856G>A c.(856-858)Gat>Aat p.D286N TOMM40L_uc009wuf.2_Intron|NR1I3_uc021pbw.1_Missense_Mutation_p.D287N|NR1I3_uc001fzm.3_Missense_Mutation_p.D207N|NR1I3_uc001fzn.3_Missense_Mutation_p.D76N|NR1I3_uc001fzf.3_Missense_Mutation_p.D287N|NR1I3_uc009wug.3_Missense_Mutation_p.D120N|NR1I3_uc001fzo.3_Missense_Mutation_p.D115N|NR1I3_uc001fzt.3_Missense_Mutation_p.D76N|NR1I3_uc001fzs.3_Missense_Mutation_p.D76N|NR1I3_uc001fzr.3_Silent_p.L139L|NR1I3_uc001fzq.3_Silent_p.L139L|NR1I3_uc001fzv.3_Silent_p.L110L|NR1I3_uc001fzu.3_Silent_p.L110L|NR1I3_uc001fzy.3_Missense_Mutation_p.D282N|NR1I3_uc001fzw.3_Missense_Mutation_p.D286N|NR1I3_uc001fzz.3_Missense_Mutation_p.D248N|NR1I3_uc001fzh.3_Missense_Mutation_p.D258N|NR1I3_uc001gab.3_Missense_Mutation_p.D243N|NR1I3_uc001gac.3_Missense_Mutation_p.D262N|NR1I3_uc001fzp.3_Missense_Mutation_p.D291N|NR1I3_uc001fzg.3_Missense_Mutation_p.D258N|NR1I3_uc001gaa.3_Missense_Mutation_p.D243N|NR1I3_uc001fzj.3_Missense_Mutation_p.D253N|NR1I3_uc001fzi.3_Missense_Mutation_p.D253N|NR1I3_uc001fzl.3_Missense_Mutation_p.D214N|NR1I3_uc001fzk.3_Missense_Mutation_p.D214N|NR1I3_uc010pkm.2_Missense_Mutation_p.D253N NM_001077480 NP_001070948 Q14994 NR1I3_HUMAN Homo sapiens nuclear receptor subfamily 1, group I, member 3 (NR1I3), transcript variant 2, mRNA. 286 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1) 15 all_cancers(52;1.86e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) TGCAGCTGATCAATCTCATCT 0.607000 29 18 0 0 0.010504 0 0 DBR1 51163 broad.mit.edu 37 3 137881090 137881090 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:137881090G>A uc003erv.3 - 7 1430 c.1276C>T c.(1276-1278)Cca>Tca p.P426S DBR1_uc003eru.3_Missense_Mutation_p.P375S|DBR1_uc003ert.3_Missense_Mutation_p.P194S NM_016216 NP_057300 Q9UK59 DBR1_HUMAN Homo sapiens debranching enzyme homolog 1 (S. cerevisiae) (DBR1), mRNA. 426 nucleus RNA lariat debranching enzyme activity|metal ion binding NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1) 15 ATTTCATCTGGATTAATAGAA 0.383000 289 228 0 0 0.014410 0 0 OR52J3 119679 broad.mit.edu 37 11 5068546 5068546 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:5068546G>A uc010qyv.2 + 0 791 c.791G>A c.(790-792)cGa>cAa p.R264Q NM_001001916 NP_001001916 Q8NH60 O52J3_HUMAN Homo sapiens olfactory receptor, family 52, subfamily J, member 3 (OR52J3), mRNA. 264 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R264L(2)|p.R264*(1) NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2) 36 Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204) Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19) CTTACTCATCGATTTGGACAC 0.443000 56 38 0 0 0.007835 0 0 CXADRP3 440224 broad.mit.edu 37 18 14478346 14478346 + RNA SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr18:14478346G>A uc010xai.2 - 2 c.1218C>T Homo sapiens coxsackie virus and adenovirus receptor pseudogene 3 (CXADRP3), non-coding RNA. ATGTTGGAAGGAGACATGGAT 0.498000 10 11 0 0 0.008291 0 0 CDH10 1008 broad.mit.edu 37 5 24488047 24488047 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr5:24488047G>A uc003jgr.2 - 11 2598 c.2092C>T c.(2092-2094)Cct>Tct p.P698S CDH10_uc011cnu.2_Non-coding_Transcript NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA. 698 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) GTCCTCCGAGGAATAAATAAC 0.502000 HNSCC(23;0.051) 6 30 0 0 0.006320 0 0 SESN1 27244 broad.mit.edu 37 6 109319926 109319926 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:109319926G>A uc003psu.3 - 4 1194 c.762C>T c.(760-762)tcC>tcT p.S254S SESN1_uc021zdp.1_Silent_p.S129S|SESN1_uc003pst.4_Silent_p.S195S NM_014454 NP_001186863 Q9Y6P5 SESN1_HUMAN Homo sapiens sestrin 1 (SESN1), transcript variant 1, mRNA. 195 cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus nucleus cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 10 all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637) Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117) ATTCCGCAAGGGACCAGCTGT 0.388000 37 35 0 0 0.004289 0 0 GPR126 57211 broad.mit.edu 37 6 142737022 142737023 + Nonsense_Mutation DNP GG AA AA TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:142737022_142737023GG>AA uc010khe.3 + 19 3170_3171 c.2759_2760GG>AA c.(2758-2760)tgg>tAA p.W920* GPR126_uc010khc.3_Nonsense_Mutation_p.W920*|GPR126_uc010khd.3_Nonsense_Mutation_p.W892*|GPR126_uc010khf.3_Nonsense_Mutation_p.W892* NM_198569 NP_940971 Q86SQ4 GP126_HUMAN Homo sapiens G protein-coupled receptor 126 (GPR126), transcript variant b1, mRNA. 920 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 Breast(32;0.176) OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121) CTAGATGGCTGGATCACCTCCT 0.465000 70 42 0 0 0.004672 0 0 SERTAD4 56256 broad.mit.edu 37 1 210415669 210415669 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:210415669G>A uc001hhy.3 + 3 1237 c.1058G>A c.(1057-1059)gGa>gAa p.G353E SERTAD4_uc009xcw.3_Missense_Mutation_p.G353E NM_019605 NP_062551 Q9NUC0 SRTD4_HUMAN Homo sapiens SERTA domain containing 4 (SERTAD4), mRNA. 353 protein binding endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127) TGCAGCAAAGGAAGTAAAATA 0.368000 30 17 0 0 0.010504 0 0 C19orf66 55337 broad.mit.edu 37 19 10200677 10200677 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:10200677C>T uc002mmu.4 + 4 636 c.338C>T c.(337-339)tCc>tTc p.S113F C19orf66_uc002mmv.4_Missense_Mutation_p.S113F|C19orf66_uc002mmw.4_Missense_Mutation_p.S62F NM_018381 NP_060851 Q9NUL5 CS066_HUMAN Homo sapiens chromosome 19 open reading frame 66 (C19orf66), mRNA. 113 large_intestine(3)|skin(1) 4 TTTGCCTGCTCCTCCTGCGAC 0.602000 6 11 0 0 0.008291 0 0 NOVA1 4857 broad.mit.edu 37 14 26917170 26917170 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr14:26917170C>T uc001wqa.3 - 5 1939 c.1153G>A c.(1153-1155)Ggt>Agt p.G385S NOVA1_uc001wpy.3_Missense_Mutation_p.G507S|NOVA1_uc001wpz.3_Missense_Mutation_p.G483S NM_002515 NP_002506 P51513 NOVA1_HUMAN Homo sapiens neuro-oncological ventral antigen 1 (NOVA1), transcript variant 1, mRNA. 510 Ala-rich. RNA splicing|locomotory behavior|synaptic transmission nucleus RNA binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(265;0.0135) GGCACTCAACCCACTTTCTGA 0.428000 32 13 0 0 0.001855 0 0 PHLPP1 23239 broad.mit.edu 37 18 60645673 60645673 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr18:60645673C>T uc021ule.1 + 16 4408 c.4163C>T c.(4162-4164)gCc>gTc p.A1388V NM_194449 NP_919431 O60346 PHLP1_HUMAN Homo sapiens PH domain and leucine rich repeat protein phosphatase 1 (PHLPP1), mRNA. 1388 PP2C-like. apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling cytosol|membrane|nucleus metal ion binding|protein serine/threonine phosphatase activity endometrium(2)|kidney(2)|lung(13) 17 GCCGTGGAAGCCGTGCGCAAC 0.642000 6 8 0 0 0.010729 0 0 TSPAN8 7103 broad.mit.edu 37 12 71531774 71531774 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:71531774C>T uc009zrt.1 - 4 565 c.403G>A c.(403-405)Gaa>Aaa p.E135K TSPAN8_uc001swk.1_Missense_Mutation_p.E135K|TSPAN8_uc001swj.1_Missense_Mutation_p.E135K NM_004616 NP_004607 P19075 TSN8_HUMAN Homo sapiens tetraspanin 8 (TSPAN8), mRNA. 135 protein glycosylation integral to membrane|lysosome signal transducer activity p.E135K(2) breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1) 19 LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244) AATTGTTTTTCACTTTCCCCT 0.338000 251 176 0 0 0.014410 0 0 SYPL1 6856 broad.mit.edu 37 7 105732271 105732271 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr7:105732271G>A uc003vdp.3 - 5 842 c.760C>T c.(760-762)Cca>Tca p.P254S SYPL1_uc003vdo.3_Missense_Mutation_p.P236S NM_006754 NP_874384 Q16563 SYPL1_HUMAN Homo sapiens synaptophysin-like 1 (SYPL1), transcript variant 1, mRNA. 254 synaptic transmission cytoplasmic vesicle membrane|integral to plasma membrane|melanosome|synaptic vesicle transporter activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1) 7 GTAGGAGGTGGAATACCTCCT 0.403000 28 19 0 0 0.010504 0 0 NEBL 10529 broad.mit.edu 37 10 21185889 21185889 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr10:21185889C>T uc001iqi.3 - 1 548 c.151G>A c.(151-153)Gat>Aat p.D51N NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron NM_006393 NP_006384 O76041 NEBL_HUMAN Homo sapiens nebulette (NEBL), transcript variant 1, mRNA. 51 regulation of actin filament length actin binding|structural constituent of muscle NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 CCACTTACATCGCTAATGAGT 0.373000 67 27 0 0 0.009535 0 0 NLRP13 126204 broad.mit.edu 37 19 56407388 56407388 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:56407388C>T uc010ygg.2 - 10 3080 c.3055G>A c.(3055-3057)Gaa>Aaa p.E1019K NM_176810 NP_789780 Q86W25 NAL13_HUMAN Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA. 1019 ATP binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) GTATCCAATTCATTGCCTAGA 0.468000 83 61 0 0 0.014410 0 0 ABCG1 9619 broad.mit.edu 37 21 43693414 43693414 + Splice_Site SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr21:43693414G>A uc011aev.2 + 4 512 c.438_splice c.e4-1 p.R146_splice ABCG1_uc002zam.3_Splice_Site_p.R113_splice|ABCG1_uc002zan.3_Splice_Site_p.R137_splice|ABCG1_uc002zao.3_Splice_Site_p.R132_splice|ABCG1_uc002zap.3_Splice_Site_p.R135_splice|ABCG1_uc002zaq.3_Splice_Site_p.R135_splice|ABCG1_uc002zar.3_Splice_Site_p.R146_splice NM_004915 NP_004906 P45844 ABCG1_HUMAN Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 1 (ABCG1), transcript variant 4, mRNA. 135 ABC transporter. amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport Golgi membrane|endoplasmic reticulum membrane|external side of plasma membrane|recycling endosome ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1) 29 Adenosine triphosphate(DB00171) GTTCTGCAGGGAGACGGGCAT 0.667000 56 50 0 0 0.014410 0 0 CD1C 911 broad.mit.edu 37 1 158262110 158262110 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:158262110C>T uc001fru.3 + 2 857 c.565C>T c.(565-567)Ctc>Ttc p.L189F CD1C_uc021pbl.1_5'Flank NM_001765 NP_001756 P29017 CD1C_HUMAN Homo sapiens CD1c molecule (CD1C), mRNA. 189 T cell activation involved in immune response|antigen processing and presentation endosome membrane|integral to plasma membrane endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 39 all_hematologic(112;0.0378) CCCCCGATTTCTCTTGGGTCT 0.453000 148 136 0 0 0.014410 0 0 C11orf63 79864 broad.mit.edu 37 11 122756873 122756873 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:122756873C>T uc001pym.3 + 1 613 c.316C>T c.(316-318)Cat>Tat p.H106Y C11orf63_uc001pyl.1_Missense_Mutation_p.H106Y NM_024806 NP_079082 Q6NUN7 CK063_HUMAN Homo sapiens chromosome 11 open reading frame 63 (C11orf63), transcript variant 1, mRNA. 106 breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 47 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311) GCAAAACCACCATACCTGGGA 0.483000 44 23 0 0 0.003330 0 0 ADCY10 55811 broad.mit.edu 37 1 167792263 167792263 + Missense_Mutation SNP T C C TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:167792263T>C uc001ger.3 - 28 4449 c.4151A>G c.(4150-4152)gAc>gGc p.D1384G ADCY10_uc009wvj.3_Non-coding_Transcript|ADCY10_uc010plj.2_Missense_Mutation_p.D1231G|ADCY10_uc009wvk.3_Missense_Mutation_p.D1292G NM_018417 NP_001161221 Q96PN6 ADCYA_HUMAN Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA. 1384 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction ATP binding|adenylate cyclase activity|magnesium ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1) 63 AAGCAGGATGTCCAAGCAGAC 0.498000 26 27 0 0 0.006320 0 0 FAM49A 81553 broad.mit.edu 37 2 16734264 16734264 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:16734264G>A uc010exm.2 - 10 1060 c.912C>T c.(910-912)ttC>ttT p.F304F FAM49A_uc002rck.2_Silent_p.F304F NM_030797 NP_110424 Q9H0Q0 FA49A_HUMAN Homo sapiens family with sequence similarity 49, member A (FAM49A), mRNA. 304 intracellular breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088) GBM - Glioblastoma multiforme(3;0.00969) GCTTTGTAGTGAACCTGGATG 0.448000 28 16 0 0 0.008871 0 0 ZNF782 158431 broad.mit.edu 37 9 99581952 99581952 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr9:99581952G>A uc004awp.1 - 5 634 c.353C>T c.(352-354)tCa>tTa p.S118L ZNF782_uc011lup.1_5'UTR NM_001001662 NP_001001662 Q6ZMW2 ZN782_HUMAN Homo sapiens zinc finger protein 782 (ZNF782), mRNA. 118 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.I117L(1) NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3) 33 Acute lymphoblastic leukemia(62;0.0527) TGGTTTTCCTGAAATTTCTTG 0.403000 28 16 0 0 0.004007 0 0 KDM5A 5927 broad.mit.edu 37 12 416839 416839 + Silent SNP G A A rs61750262 TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:416839G>A uc001qif.1 - 22 4074 c.3711C>T c.(3709-3711)ccC>ccT p.P1237P NM_001042603 NP_001036068 P29375 KDM5A_HUMAN Homo sapiens lysine (K)-specific demethylase 5A (KDM5A), mRNA. 1237 chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding p.P1237L(1) NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2) 77 GCAACCGTACGGGCAACTTCT 0.507000 T NUP98 AML 33 31 0 0 0.013726 0 0 HAPLN3 145864 broad.mit.edu 37 15 89422255 89422255 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr15:89422255G>A uc002bnd.3 - 4 1006 c.925C>T c.(925-927)Ccc>Tcc p.P309S HAPLN3_uc002bnc.3_Missense_Mutation_p.P247S|HAPLN3_uc002bne.3_Non-coding_Transcript NM_178232 NP_839946 Q96S86 HPLN3_HUMAN Homo sapiens hyaluronan and proteoglycan link protein 3 (HAPLN3), mRNA. 247 Link 2. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1) 17 Lung NSC(78;0.0392)|all_lung(78;0.077) CGGTGGCGGGGGCCGTAGCTT 0.682000 OREG0023445 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 10 0 0 0.010729 0 0 OPN1MW 2652 broad.mit.edu 37 X 153496229 153496229 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chrX:153496229C>T uc004fkd.3 + 4 1039 c.957C>T c.(955-957)ccC>ccT p.P319P NM_000513 NP_001041646 P04001 OPSG_HUMAN Homo sapiens opsin 1 (cone pigments), medium-wave-sensitive (OPN1MW), mRNA. 319 phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity endometrium(1)|lung(1) 2 all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TCTACAACCCCGTTATCTATG 0.547000 83 49 0 0 0.014410 0 0 SNAP91 9892 broad.mit.edu 37 6 84303343 84303343 + Missense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:84303343G>A uc021zcf.1 - 16 1580 c.1550C>T c.(1549-1551)cCa>cTa p.P517L SNAP91_uc011dzd.2_Missense_Mutation_p.P20L|SNAP91_uc003pka.3_Missense_Mutation_p.P515L|SNAP91_uc011dze.2_Missense_Mutation_p.P515L|SNAP91_uc003pkc.3_Missense_Mutation_p.P515L|SNAP91_uc003pkd.3_Intron|SNAP91_uc003pkb.3_Missense_Mutation_p.P480L NM_014841 NP_055656 O60641 AP180_HUMAN Homo sapiens synaptosomal-associated protein, 91kDa homolog (mouse) (SNAP91), transcript variant 1, mRNA. 517 Ala-rich. 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) TGCGGGAACTGGAGGGGCTGT 0.607000 13 10 0 0 0.010729 0 0 COL21A1 81578 broad.mit.edu 37 6 55990415 55990415 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr6:55990415C>T uc003pcs.3 - 13 1832 c.1600G>A c.(1600-1602)Gaa>Aaa p.E534K COL21A1_uc010jzz.3_5'Flank|COL21A1_uc011dxg.2_5'Flank|COL21A1_uc011dxh.2_5'Flank|COL21A1_uc003pct.1_Non-coding_Transcript|COL21A1_uc011dxi.1_Missense_Mutation_p.E534K|COL21A1_uc003pcu.1_Missense_Mutation_p.E531K NM_030820 NP_110447 Q96P44 COLA1_HUMAN Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA. 534 cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2) 41 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) GCACCCATTTCACCCTAAAAG 0.274000 6 6 0 0 0.001984 0 0 GPR158 57512 broad.mit.edu 37 10 25887846 25887846 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr10:25887846G>A uc001isj.3 + 10 3351 c.3291G>A c.(3289-3291)gaG>gaA p.E1097E GPR158_uc001isk.3_Silent_p.E472E NM_020752 NP_065803 Q5T848 GP158_HUMAN Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA. 1097 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 TTCTCCCAGAGAGGGCAAAAG 0.512000 55 45 0 0 0.011902 0 0 CT47A6 728062 broad.mit.edu 37 X 120094513 120094513 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chrX:120094513C>T uc004eth.3 - 0 825 c.570G>A c.(568-570)caG>caA p.Q190Q CT47A6_uc004eti.3_Intron NM_001080141 NP_775842 Q5JQC4 CT47A_HUMAN Homo sapiens cancer/testis antigen family 47, member A6 (CT47A6), mRNA. 190 large_intestine(1)|lung(4) 5 ATGCGGCCTCCTGGATCAGGC 0.736000 6 48 0 0 0.014410 0 0 C20orf20 55257 broad.mit.edu 37 20 61429957 61429957 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr20:61429957C>T uc002ydi.3 + 2 360 c.289C>T c.(289-291)Cca>Tca p.P97S NM_018270 NP_060740 Q9NV56 MRGBP_HUMAN Homo sapiens chromosome 20 open reading frame 20 (C20orf20), mRNA. 97 chromatin modification|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent H4/H2A histone acetyltransferase complex endometrium(1)|lung(5)|skin(2)|urinary_tract(3) 11 Breast(26;3.65e-08) TGAGATTCTTCCATTCCCGAA 0.458000 86 47 0 0 0.014410 0 0 ACVR1B 91 broad.mit.edu 37 12 52370179 52370179 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr12:52370179C>T uc010snn.2 + 2 477 c.400C>T c.(400-402)Ccg>Tcg p.P134S ACVR1B_uc001rzl.3_Missense_Mutation_p.P134S|ACVR1B_uc001rzm.3_Missense_Mutation_p.P134S|ACVR1B_uc001rzn.3_Missense_Mutation_p.P134S|ACVR1B_uc021qya.1_Missense_Mutation_p.P82S NM_020328 NP_064733 P36896 ACV1B_HUMAN Homo sapiens activin A receptor, type IB (ACVR1B), transcript variant 3, mRNA. 134 G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway cell surface ATP binding|SMAD binding|activin receptor activity, type I|metal ion binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1) 44 BRCA - Breast invasive adenocarcinoma(357;0.104) Adenosine triphosphate(DB00171) CATCGCCGGCCCGGTGTTCCT 0.537000 51 31 0 0 0.009535 0 0 PIF1 80119 broad.mit.edu 37 15 65116064 65116064 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr15:65116064C>T uc002ant.2 - 1 537 c.471G>A c.(469-471)gaG>gaA p.E157E PIF1_uc002anr.2_5'Flank|PIF1_uc002ans.2_5'Flank|PIF1_uc010uiq.1_Silent_p.E157E|PIF1_uc002anu.3_Silent_p.E157E NM_025049 NP_079325 Q9H611 PIF1_HUMAN Homo sapiens PIF1 5'-to-3' DNA helicase homolog (S. cerevisiae) (PIF1), mRNA. 157 negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication nuclear chromosome, telomeric region ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding kidney(1)|lung(1) 2 TGAGCCGCCGCTCCTCGGGCT 0.756000 20 11 0 0 0.010729 0 0 TLR4 7099 broad.mit.edu 37 9 120475290 120475290 + Missense_Mutation SNP A G G TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr9:120475290A>G uc004bjz.3 + 2 1175 c.884A>G c.(883-885)tAc>tGc p.Y295C TLR4_uc004bkb.3_Missense_Mutation_p.Y95C|TLR4_uc004bka.3_Missense_Mutation_p.Y255C NM_138554 NP_612564 O00206 TLR4_HUMAN Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA. 295 I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T-helper 1 type immune response|Toll signaling pathway|activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|innate immune response|intestinal epithelial structure maintenance|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 103 TACTTAGACTACTACCTCGAT 0.338000 36 36 0 0 0.005524 0 0 DNAH7 56171 broad.mit.edu 37 2 196738410 196738410 + Nonsense_Mutation SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:196738410G>A uc002utj.4 - 38 6396 c.6295C>T c.(6295-6297)Cga>Tga p.R2099* NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA. 2099 AAA 3 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 ACTGGATTTCGACCACCACCT 0.274000 11 16 0 0 0.004990 0 0 TMEM182 130827 broad.mit.edu 37 2 103378691 103378691 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:103378691C>T uc010fjb.3 + 0 202 c.15C>T c.(13-15)atC>atT p.I5I TMEM182_uc002tcc.4_Intron|TMEM182_uc002tcd.4_Intron NM_144632 NP_653233 Q6ZP80 TM182_HUMAN Homo sapiens transmembrane protein 182 (TMEM182), mRNA. 5 integral to membrane breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5) 11 GACTAAATATCGCTATCTTCT 0.358000 8 11 0 0 0.008291 0 0 TBC1D10A 83874 broad.mit.edu 37 22 30683443 30683443 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr22:30683443G>A uc003ahi.3 - 7 927 c.810C>T c.(808-810)atC>atT p.I270I TBC1D10A_uc003ahd.3_Silent_p.I97I|TBC1D10A_uc003ahf.3_Non-coding_Transcript|TBC1D10A_uc003ahg.3_Non-coding_Transcript|TBC1D10A_uc003ahh.3_Non-coding_Transcript|TBC1D10A_uc010gvq.3_Non-coding_Transcript|TBC1D10A_uc010gvr.3_5'UTR|TBC1D10A_uc010gvs.2_5'UTR NM_031937 NP_114143 Q9BXI6 TB10A_HUMAN Homo sapiens TBC1 domain family, member 10A (TBC1D10A), transcript variant 2, mRNA. 0 Rab-GAP TBC. intracellular|microvillus PDZ domain binding|Rab GTPase activator activity|guanyl-nucleotide exchange factor activity cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 CCGAACGGGCGATCTTGGTGA 0.612000 OREG0026457 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 30 27 0 0 0.009535 0 0 ASAP2 8853 broad.mit.edu 37 2 9528618 9528618 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:9528618C>T uc002qzh.2 + 21 2666 c.2326C>T c.(2326-2328)Cct>Tct p.P776S ASAP2_uc002qzi.2_Missense_Mutation_p.P776S NM_003887 NP_003878 O43150 ASAP2_HUMAN Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 (ASAP2), transcript variant 1, mRNA. 776 Pro-rich. regulation of ARF GTPase activity Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|protein binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 36 TCCCGCCCAGCCTGCAGCCCC 0.587000 20 16 0 0 0.004990 0 0 GPR128 84873 broad.mit.edu 37 3 100368614 100368614 + Missense_Mutation SNP G T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:100368614G>T uc003duc.3 + 10 1610 c.1342G>T c.(1342-1344)Ggt>Tgt p.G448C GPR128_uc011bhc.2_Missense_Mutation_p.G149C NM_032787 NP_116176 Q96K78 GP128_HUMAN Homo sapiens G protein-coupled receptor 128 (GPR128), mRNA. 448 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 56 GTCTGTTACTGGTCTGGCTCT 0.368000 62 4 1.23904e-05 1.3001e-05 0.000602 1 0 ADD3 120 broad.mit.edu 37 10 111890164 111890164 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr10:111890164C>T uc001kyu.3 + 12 1808 c.1652C>T c.(1651-1653)cCt>cTt p.P551L ADD3_uc001kyt.4_Missense_Mutation_p.P551L|ADD3_uc001kys.4_Missense_Mutation_p.P551L|ADD3_uc001kyv.3_Missense_Mutation_p.P551L|ADD3_uc001kyw.3_Missense_Mutation_p.P551L|ADD3_uc001kyx.3_Missense_Mutation_p.P124L NM_016824 NP_058432 Q9UEY8 ADDG_HUMAN Homo sapiens adducin 3 (gamma) (ADD3), transcript variant 1, mRNA. 551 cytoskeleton actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 29 Breast(234;0.052)|Lung NSC(174;0.223) Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742) CCAGCTCCTCCTAACCCATTT 0.348000 48 27 0 0 0.008361 0 0 ACVR1C 130399 broad.mit.edu 37 2 158399337 158399337 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:158399337C>T uc002tzk.4 - 5 1224 c.981G>A c.(979-981)aaG>aaA p.K327K ACVR1C_uc002tzl.4_Silent_p.K247K|ACVR1C_uc010fof.3_Silent_p.K170K|ACVR1C_uc010foe.3_Silent_p.K277K NM_145259 NP_001104501 Q8NER5 ACV1C_HUMAN Homo sapiens activin A receptor, type IC (ACVR1C), transcript variant 1, mRNA. 327 Protein kinase. apoptosis|cell differentiation|regulation of apoptosis activin receptor complex ATP binding|activin receptor activity, type I|transforming growth factor beta receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 42 CTAAGATATTCTTTGATTTTA 0.368000 52 34 0 0 0.003271 0 0 TCHHL1 126637 broad.mit.edu 37 1 152058877 152058877 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:152058877C>T uc001ezo.1 - 2 1346 c.1281G>A c.(1279-1281)caG>caA p.Q427Q NM_001008536 NP_001008536 Q5QJ38 TCHL1_HUMAN Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA. 427 calcium ion binding breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1) 60 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) CTTGGAGTTCCTGATACTTCC 0.468000 79 59 0 0 0.014410 0 0 SLC14A1 6563 broad.mit.edu 37 18 43311018 43311018 + Missense_Mutation SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr18:43311018C>T uc010dnk.3 + 4 580 c.358C>T c.(358-360)Cgg>Tgg p.R120W SLC14A1_uc002lbi.4_Intron|SLC14A1_uc010xcn.2_Missense_Mutation_p.R64W|SLC14A1_uc002lbf.4_Missense_Mutation_p.R64W|SLC14A1_uc002lbg.4_Non-coding_Transcript|SLC14A1_uc010xco.2_5'UTR|SLC14A1_uc002lbh.4_Intron|SLC14A1_uc002lbj.4_Missense_Mutation_p.R120W|SLC14A1_uc002lbk.4_Missense_Mutation_p.R64W|SLC14A1_uc021ujg.1_Missense_Mutation_p.R64W NM_001128588 NP_056949 Q13336 UT1_HUMAN Homo sapiens solute carrier family 14 (urea transporter), member 1 (Kidd blood group) (SLC14A1), transcript variant 1, mRNA. 64 integral to plasma membrane urea transmembrane transporter activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 21 CTGGATTCTCCGGGGCATATC 0.527000 57 41 0 0 0.013114 0 0 CDC42BPA 8476 broad.mit.edu 37 1 227192753 227192753 + Silent SNP G A A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr1:227192753G>A uc001hqr.3 - 33 5755 c.4812C>T c.(4810-4812)atC>atT p.I1604I CDC42BPA_uc001hqq.3_Silent_p.I903I|CDC42BPA_uc001hqs.3_Silent_p.I1523I|CDC42BPA_uc009xes.3_Silent_p.I1576I|CDC42BPA_uc010pvs.2_Silent_p.I1584I|CDC42BPA_uc001hqp.3_Silent_p.I822I|CDC42BPA_uc001hqt.2_Silent_p.I482I NM_003607 NP_003598 Q5VT25 MRCKA_HUMAN Homo sapiens CDC42 binding protein kinase alpha (DMPK-like) (CDC42BPA), transcript variant B, mRNA. 1617 actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2) 77 all_cancers(173;0.156)|Prostate(94;0.0792) GGGATTTGGTGATAGATGGAA 0.532000 44 30 0 0 0.007291 0 0 C20orf152 140894 broad.mit.edu 37 20 34571961 34571961 + Silent SNP C T T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr20:34571961C>T uc002xer.1 + 4 621 c.465C>T c.(463-465)ttC>ttT p.F155F C20orf152_uc002xes.1_Silent_p.F155F|C20orf152_uc010gfp.1_Intron NM_080834 NP_543024 Q96M20 CT152_HUMAN Homo sapiens chromosome 20 open reading frame 152 (C20orf152), transcript variant 1, mRNA. 155 breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1) 18 Breast(12;0.00631) GCTTTTATTTCATCTACCTGG 0.522000 35 35 0 0 0.012213 0 0 PGR 5241 broad.mit.edu 37 11 100962567 100962567 + Silent SNP G A A rs11571179 TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr11:100962567G>A uc001pgh.2 - 2 2573 c.1830C>T c.(1828-1830)atC>atT p.I610I PGR_uc001pgi.2_Silent_p.I610I|PGR_uc009yww.1_Non-coding_Transcript|PGR_uc001pgj.2_Non-coding_Transcript|PGR_uc009ywx.1_Intron NM_000926 NP_000917 P06401 PRGR_HUMAN Homo sapiens progesterone receptor (PGR), transcript variant 2, mRNA. 610 cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 36 Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014) LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164) Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396) TTTTATCAACGATGCAGTCAT 0.378000 9 9 0 0 0.008291 0 0 MIR663B 100313824 broad.mit.edu 37 2 133014651 133014652 + Splice_Site INS - C C rs150907057 TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr2:133014651_133014652insC uc021vpu.1 - 1 c.1_splice c.e1-1 ANKRD30BL_uc002ttj.3_Intron Homo sapiens microRNA 663b (MIR663B), microRNA. GGCCCTCGGCACCACCGAGACC 0.678 --- 6 --- --- 3 --- MORC1 27136 broad.mit.edu 37 3 108682332 108682333 + Frame_Shift_Del DEL TT - - TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:108682332_108682333delTT uc003dxl.3 - 26 2814_2815 c.2727_2728delAA c.(2725-2730)aaaagafs p.K909fs MORC1_uc011bhn.2_Frame_Shift_Del_p.K888fs NM_014429 NP_055244 Q86VD1 MORC1_HUMAN Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA. 909 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 GAGATTTTTCTTTTATTTTCAC 0.322 --- 40 --- --- 36 --- EIF4A2 1974 broad.mit.edu 37 3 186504015 186504015 + Frame_Shift_Del DEL A - - TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr3:186504015delA uc003fqs.3 + 5 619 c.580delA c.(580-582)aagfs p.K194fs EIF4A2_uc003fqu.3_Frame_Shift_Del_p.K195fs|EIF4A2_uc003fqv.3_Frame_Shift_Del_p.K99fs|EIF4A2_uc003fqw.3_Frame_Shift_Del_p.K99fs|EIF4A2_uc011bsb.2_Frame_Shift_Del_p.K67fs|SNORA81_uc010hyv.2_5'Flank|SNORA63_uc010hyw.1_5'Flank|EIF4A2_uc010hyx.1_5'Flank NM_001967 NP_001958 Q14240 IF4A2_HUMAN Homo sapiens eukaryotic translation initiation factor 4A2 (EIF4A2), mRNA. 194 Helicase ATP-binding. interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1) 28 all_cancers(143;2.68e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.07e-20) GBM - Glioblastoma multiforme(93;0.0704) CCGTGGTTTTAAGGATCAAAT 0.353 T BCL6 NHL --- 25 --- --- 11 --- KIT 3815 broad.mit.edu 37 4 55599319 55599321 + In_Frame_Del DEL AGA - - rs121913506 TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr4:55599319_55599321delAGA uc010igr.3 + 16 2532_2534 c.2445_2447delAGA c.(2443-2448)agagac>agc p.815_816RD>S KIT_uc010igs.3_In_Frame_Del_p.811_812RD>S NM_000222 NP_000213 P10721 KIT_HUMAN Homo sapiens v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog (KIT), transcript variant 1, mRNA. 815 Protein kinase. male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway extracellular space|integral to membrane ATP binding|protein binding|receptor signaling protein tyrosine kinase activity p.D816V(1920)|p.D816?(188)|p.D816Y(111)|p.D816H(103)|p.D816F(12)|p.D816E(5)|p.D816I(5)|p.D816N(4)|p.D816G(4)|p.D816A(3)|p.D816>VVA(2)|p.A814S(2)|p.R815_D816insVI(2)|p.L813_A814insSLL(1)|p.A814T(1)|p.D816>GP(1)|p.A814A(1) NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1) 6411 all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209) Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171) Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) GTCTAGCCAGAGACATCAAGAAT 0.394 1 """Mis, O""" """GIST, AML, TGCT, mastocytosis, mucosal melanoma""" """GIST, epithelioma""" Piebald trait Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors --- 129 --- --- 8 --- SPEF2 79925 broad.mit.edu 37 5 35753811 35753811 + Frame_Shift_Del DEL G - - TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr5:35753811delG uc003jjo.3 + 23 3527 c.3416delG c.(3415-3417)tggfs p.W1139fs SPEF2_uc003jjp.1_Frame_Shift_Del_p.W625fs NM_024867 NP_079143 Q9C093 SPEF2_HUMAN Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA. 1139 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AATGAGAGCTGGTTACAGGAC 0.507 --- 32 --- --- 50 --- EPS15L1 58513 broad.mit.edu 37 19 16553011 16553011 + Frame_Shift_Del DEL A - - TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c18d56f5-d557-41b3-8479-3875471de142 cce9aaa6-afce-45b9-907b-931afe0c75c5 g.chr19:16553011delA uc002ndx.3 - 1 59 c.53delT c.(52-54)ttgfs p.L18fs EPS15L1_uc002ndy.3_Non-coding_Transcript|EPS15L1_uc002ndz.1_Frame_Shift_Del_p.L18fs|EPS15L1_uc010xpf.1_5'UTR|EPS15L1_uc002nea.1_Frame_Shift_Del_p.L18fs|EPS15L1_uc010eah.1_Frame_Shift_Del_p.L18fs|EPS15L1_uc002nec.1_Frame_Shift_Del_p.L18fs NM_021235 NP_067058 Q9UBC2 EP15R_HUMAN Homo sapiens epidermal growth factor receptor pathway substrate 15-like 1 (EPS15L1), mRNA. 18 EH 1. endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|nucleus|plasma membrane calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2) 30 AGATTCATACAACGAATTTCC 0.428 --- 22 --- --- 12 ---