Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample CAMTA1 23261 broad.mit.edu 37 1 7723412 7723412 + Splice_Site SNP G G T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr1:7723412G>T ENST00000303635.7 + 9 1012 c.e9-1 CAMTA1_ENST00000439411.2_Splice_Site NM_015215.2 NP_056030.1 Q9Y6Y1 CMTA1_HUMAN calmodulin binding transcription activator 1 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding p.?(1) breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 85 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) GATCTCCGCAGGAGCTGGCGG 0.607 T WWTR1 epitheliod hemangioendothelioma 52 246 --- --- --- --- PRDM2 7799 broad.mit.edu 37 1 14105677 14105677 + Missense_Mutation SNP G G A rs143566559 by1000genomes TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr1:14105677G>A ENST00000235372.7 + 8 2243 c.1387G>A c.(1387-1389)Gct>Act p.A463T PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.A262T|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.A463T|PRDM2_ENST00000413440.1_Missense_Mutation_p.A262T NM_012231.4 NP_036363.2 Q13029 PRDM2_HUMAN PR domain containing 2, with ZNF domain 463 Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding p.A463T(1) endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 55 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) TTCAGAGAAGGCTTCCCAAGA 0.418 7 70 --- --- --- --- GBP3 2635 broad.mit.edu 37 1 89480252 89480252 + Nonsense_Mutation SNP G G A TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr1:89480252G>A ENST00000370481.4 - 4 626 c.406C>T c.(406-408)Cag>Tag p.Q136* NM_018284.2 NP_060754.2 Q9H0R5 GBP3_HUMAN guanylate binding protein 3 136 integral to membrane GTP binding|GTPase activity p.Q136*(1) breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 26 Lung NSC(277;0.123) all cancers(265;0.0103)|Epithelial(280;0.0293) ATAGCCTGCTGGTTGATGGTT 0.512 24 158 --- --- --- --- SV2A 9900 broad.mit.edu 37 1 149885321 149885321 + Silent SNP C C T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr1:149885321C>T ENST00000369146.3 - 2 562 c.72G>A c.(70-72)aaG>aaA p.K24K SV2A_ENST00000369145.1_Silent_p.K24K NM_001278719.1|NM_014849.3 NP_001265648.1|NP_055664.3 Q7L0J3 SV2A_HUMAN synaptic vesicle glycoprotein 2A 24 Interaction with SYT1 (By similarity). neurotransmitter transport cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane transmembrane transporter activity p.K24K(1) breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2) 55 Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) Levetiracetam(DB01202) TGGCCGCATGCTTTTTGACTT 0.547 36 133 --- --- --- --- LAMC1 3915 broad.mit.edu 37 1 183106827 183106827 + Missense_Mutation SNP A A C TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr1:183106827A>C ENST00000258341.4 + 26 4595 c.4338A>C c.(4336-4338)gaA>gaC p.E1446D NM_002293.3 NP_002284.3 P11047 LAMC1_HUMAN laminin, gamma 1 (formerly LAMB2) 1446 Domain II and I. axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex extracellular matrix structural constituent p.E1446D(2) NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 76 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CCAAGGCAGAAGCTGAAAGAA 0.373 8 66 --- --- --- --- IVNS1ABP 10625 broad.mit.edu 37 1 185269161 185269161 + Silent SNP A A G TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr1:185269161A>G ENST00000367498.3 - 13 2093 c.1471T>C c.(1471-1473)Ttg>Ctg p.L491L IVNS1ABP_ENST00000392007.3_Silent_p.L273L|IVNS1ABP_ENST00000459929.1_5'UTR NM_006469.4 NP_006460.2 Q9Y6Y0 NS1BP_HUMAN influenza virus NS1A binding protein 491 interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex p.L491L(1) breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2) 29 CTTGTCCACAACTTTGTTACA 0.353 10 58 --- --- --- --- WNT9A 7483 broad.mit.edu 37 1 228111994 228111994 + Missense_Mutation SNP C C T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr1:228111994C>T ENST00000272164.5 - 3 470 c.460G>A c.(460-462)Gca>Aca p.A154T NM_003395.2 NP_003386.1 O14904 WNT9A_HUMAN wingless-type MMTV integration site family, member 9A 154 anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity p.A154T(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 19 Prostate(94;0.0405) AGGTCGGGTGCCTCATCGCAG 0.642 30 178 --- --- --- --- OBSCN 84033 broad.mit.edu 37 1 228456388 228456388 + Silent SNP C C T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr1:228456388C>T ENST00000570156.2 + 19 5645 c.5571C>T c.(5569-5571)cgC>cgT p.R1857R OBSCN_ENST00000359599.6_Silent_p.R329R|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.R1673R|OBSCN_ENST00000422127.1_Silent_p.R1673R NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 845 Ig-like 18. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding p.R1673R(1)|p.R1765R(1) NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CGAAAGTGCGCGTGGAGGCCG 0.682 16 154 --- --- --- --- DISC1 27185 broad.mit.edu 37 1 231830155 231830155 + Silent SNP T T C TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr1:231830155T>C ENST00000439617.2 + 2 704 c.651T>C c.(649-651)ctT>ctC p.L217L DISC1_ENST00000602873.1_Intron|TSNAX-DISC1_ENST00000602962.1_3'UTR|DISC1_ENST00000539444.1_Silent_p.L217L|DISC1_ENST00000366636.4_Silent_p.L217L|DISC1_ENST00000535983.1_Silent_p.L217L|DISC1_ENST00000537876.1_Silent_p.L217L|DISC1_ENST00000602281.1_Silent_p.L217L|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000317586.4_Silent_p.L217L|DISC1_ENST00000366633.3_Silent_p.L217L NM_001164537.1|NM_001164540.1|NM_018662.2 NP_001158009.1|NP_001158012.1|NP_061132.2 Q9NRI5 DISC1_HUMAN disrupted in schizophrenia 1 217 Interaction with MAP1A. microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway centrosome|microtubule protein binding breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 15 all_cancers(173;0.0208)|Prostate(94;0.0975) GGCTCTCGCTTGGCTCTGCCG 0.617 10 87 --- --- --- --- MYT1L 23040 broad.mit.edu 37 2 1926178 1926178 + Missense_Mutation SNP C C T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr2:1926178C>T ENST00000399161.2 - 10 2110 c.1363G>A c.(1363-1365)Gaa>Aaa p.E455K MYT1L_ENST00000428368.2_Missense_Mutation_p.E455K NM_015025.2 NP_055840.2 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 455 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.E455K(2) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) CTCCCAGCTTCCATGGCCATC 0.532 32 207 --- --- --- --- BCL11A 53335 broad.mit.edu 37 2 60688396 60688396 + Missense_Mutation SNP C C T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr2:60688396C>T ENST00000335712.6 - 4 1878 c.1651G>A c.(1651-1653)Gtg>Atg p.V551M BCL11A_ENST00000358510.4_Missense_Mutation_p.V517M|BCL11A_ENST00000538214.1_Missense_Mutation_p.V517M|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000537768.1_Missense_Mutation_p.V220M|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000356842.4_Missense_Mutation_p.V551M NM_022893.3 NP_075044.2 Q9H165 BC11A_HUMAN B-cell CLL/lymphoma 11A (zinc finger protein) 551 negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding p.V551M(3) NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 59 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) GAGCTGAGCACCATGCCCTGC 0.716 T IGH@ B-CLL 4 43 --- --- --- --- UBR3 130507 broad.mit.edu 37 2 170938348 170938348 + Silent SNP C C T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr2:170938348C>T ENST00000272793.5 + 39 5712 c.5662C>T c.(5662-5664)Ctg>Ttg p.L1888L UBR3_ENST00000392631.1_Silent_p.L709L|UBR3_ENST00000418381.1_Silent_p.L1888L Q6ZT12 UBR3_HUMAN ubiquitin protein ligase E3 component n-recognin 3 (putative) 1888 sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process integral to membrane ubiquitin-protein ligase activity|zinc ion binding p.L741L(1)|p.L1888L(1) breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1) 33 TTACAATGGGCTGTGACTCTC 0.358 8 113 --- --- --- --- TLK1 9874 broad.mit.edu 37 2 171863509 171863509 + Missense_Mutation SNP C C A TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr2:171863509C>A ENST00000442919.2 - 15 1952 c.1337G>T c.(1336-1338)aGa>aTa p.R446I TLK1_ENST00000434911.2_Missense_Mutation_p.R398I|TLK1_ENST00000521943.1_Missense_Mutation_p.R446I|TLK1_ENST00000431350.2_Missense_Mutation_p.R494I|TLK1_ENST00000360843.3_Missense_Mutation_p.R515I NM_012290.4 NP_036422.3 Q9UKI8 TLK1_HUMAN tousled-like kinase 1 494 cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 33 CTTCTCATCTCTCCAGCTTTT 0.294 6 60 --- --- --- --- ALS2CL 259173 broad.mit.edu 37 3 46724745 46724745 + Silent SNP C C A TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr3:46724745C>A ENST00000318962.4 - 10 1067 c.984G>T c.(982-984)ctG>ctT p.L328L ALS2CL_ENST00000415953.1_Silent_p.L328L NM_147129.3 NP_667340.2 Q60I27 AL2CL_HUMAN ALS2 C-terminal like 328 endosome organization|regulation of Rho protein signal transduction GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2) 29 BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202) GGCCAGCCCCCAGCACGGGGA 0.672 3 22 --- --- --- --- APPL1 26060 broad.mit.edu 37 3 57303570 57303570 + Splice_Site SNP A A T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr3:57303570A>T ENST00000288266.3 + 22 2132 c.1985A>T c.(1984-1986)gAc>gTc p.D662V ASB14_ENST00000487349.1_3'UTR|ASB14_ENST00000389601.3_3'UTR NM_012096.2 NP_036228.1 Q9UKG1 DP13A_HUMAN adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1 662 apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import cytosol|early endosome membrane|microsome|nucleus|vesicle membrane protein kinase B binding p.D662V(1) breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2) 27 KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144) TTCCACTAGGACTTGGAAGAA 0.423 7 102 --- --- --- --- PLD1 5337 broad.mit.edu 37 3 171427351 171427351 + Splice_Site SNP A A G TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr3:171427351A>G ENST00000356327.5 - 10 1130 c.1060T>C c.(1060-1062)Tgg>Cgg p.W354R PLD1_ENST00000342215.6_Splice_Site_p.W354R|PLD1_ENST00000351298.4_Splice_Site_p.W354R|PLD1_ENST00000340989.4_Splice_Site_p.W354R NM_001130081.2 NP_001123553.1 Q13393 PLD1_HUMAN phospholipase D1, phosphatidylcholine-specific 354 cell communication|chemotaxis|Ras protein signal transduction endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity p.W354R(1) breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 63 all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) Choline(DB00122) ATAACTTACCATTTAGCTAAA 0.378 10 106 --- --- --- --- ST6GAL1 6480 broad.mit.edu 37 3 186793469 186793469 + Missense_Mutation SNP G G T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr3:186793469G>T ENST00000169298.3 + 8 1773 c.1099G>T c.(1099-1101)Ggt>Tgt p.G367C ST6GAL1_ENST00000448044.1_Missense_Mutation_p.G367C|ST6GAL1_ENST00000457772.2_Missense_Mutation_p.G136C NM_173216.2 NP_775323.1 P15907 SIAT1_HUMAN ST6 beta-galactosamide alpha-2,6-sialyltranferase 1 367 humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine extracellular region|Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 7 all_cancers(143;2.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;8.53e-19) GBM - Glioblastoma multiforme(93;0.0939) CTGCACGATGGGTGCCTACCA 0.517 5 65 --- --- --- --- BOD1L1 259282 broad.mit.edu 37 4 13604158 13604158 + Missense_Mutation SNP T T C TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr4:13604158T>C ENST00000040738.5 - 10 4501 c.4366A>G c.(4366-4368)Aaa>Gaa p.K1456E NM_148894.2 NP_683692.2 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1-like 1 1456 DNA binding p.K1456E(1) TGCTTAAGTTTGACAGTTTCA 0.383 11 62 --- --- --- --- LRIT3 345193 broad.mit.edu 37 4 110791704 110791704 + Missense_Mutation SNP G G C TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr4:110791704G>C ENST00000327908.3 + 4 2014 c.1250G>C c.(1249-1251)tGt>tCt p.C417S LRIT3_ENST00000594814.1_Missense_Mutation_p.C600S|LRIT3_ENST00000379920.3_Missense_Mutation_p.C555S|LRIT3_ENST00000409621.2_Missense_Mutation_p.C417S Q3SXY7 LRIT3_HUMAN leucine-rich repeat, immunoglobulin-like and transmembrane domains 3 555 integral to membrane cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1) 16 OV - Ovarian serous cystadenocarcinoma(123;0.0011) CCATTGATTTGTTTCTTGTTG 0.383 7 101 --- --- --- --- PCDHA2 56146 broad.mit.edu 37 5 140176233 140176233 + Missense_Mutation SNP G G A TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr5:140176233G>A ENST00000526136.1 + 1 1684 c.1684G>A c.(1684-1686)Gcg>Acg p.A562T PCDHA2_ENST00000378132.1_Missense_Mutation_p.A562T|PCDHA2_ENST00000520672.2_Missense_Mutation_p.A562T|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron NM_018905.2 NP_061728.1 p.A562T(4) NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAACGACAACGCGCCGGCACT 0.697 13 216 --- --- --- --- PCDHA13 56136 broad.mit.edu 37 5 140263967 140263967 + Missense_Mutation SNP G G A TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr5:140263967G>A ENST00000289272.2 + 1 2114 c.2114G>A c.(2113-2115)tGc>tAc p.C705Y PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.C705Y|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron NM_018904.2|NM_031865.1 NP_061727.1|NP_114071.1 NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATTGCCATCTGCGCGGTGTCC 0.662 12 204 --- --- --- --- FILIP1 27145 broad.mit.edu 37 6 76022502 76022502 + Missense_Mutation SNP C C T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr6:76022502C>T ENST00000393004.2 - 5 3267 c.3046G>A c.(3046-3048)Gca>Aca p.A1016T FILIP1_ENST00000237172.7_Missense_Mutation_p.A1016T|FILIP1_ENST00000370020.1_Missense_Mutation_p.A917T|FILIP1_ENST00000498523.1_5'UTR Q7Z7B0 FLIP1_HUMAN filamin A interacting protein 1 1016 p.A1016T(1) breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4) 80 GCTGGTGCTGCTGATGTAGAC 0.488 27 187 --- --- --- --- ASB4 51666 broad.mit.edu 37 7 95157409 95157409 + Missense_Mutation SNP A A G TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr7:95157409A>G ENST00000325885.5 + 3 843 c.772A>G c.(772-774)Aag>Gag p.K258E ASB4_ENST00000428113.1_Missense_Mutation_p.K258E NM_016116.2 NP_057200.1 Q9Y574 ASB4_HUMAN ankyrin repeat and SOCS box containing 4 258 intracellular signal transduction p.K258E(1) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2) 20 all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246) STAD - Stomach adenocarcinoma(171;0.0151) TCCCCTCCACAAGGCAGCCTG 0.557 OREG0018172 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 99 --- --- --- --- OR2A25 392138 broad.mit.edu 37 7 143771567 143771567 + Silent SNP G G A TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr7:143771567G>A ENST00000408898.2 + 1 293 c.255G>A c.(253-255)ctG>ctA p.L85L NM_001004488.1 NP_001004488.1 A4D2G3 O2A25_HUMAN olfactory receptor, family 2, subfamily A, member 25 85 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L85L(1) 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) TGAACCTCCTGCATCCAGCCA 0.552 7 122 --- --- --- --- DLGAP2 9228 broad.mit.edu 37 8 1616604 1616604 + Silent SNP C C T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr8:1616604C>T ENST00000421627.2 + 6 1814 c.1680C>T c.(1678-1680)gaC>gaT p.D560D NM_004745.3 NP_004736.2 Q9P1A6 DLGP2_HUMAN discs, large (Drosophila) homolog-associated protein 2 639 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding breast(1)|endometrium(6)|lung(31)|prostate(3) 41 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) CCACCCAGGACGCCTACCAGG 0.632 4 20 --- --- --- --- PPP1R3B 79660 broad.mit.edu 37 8 8998482 8998482 + Missense_Mutation SNP C C T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr8:8998482C>T ENST00000310455.3 - 2 830 c.680G>A c.(679-681)gGc>gAc p.G227D PPP1R3B_ENST00000519699.1_Missense_Mutation_p.G227D NM_001201329.1|NM_024607.3 NP_001188258.1|NP_078883.2 Q86XI6 PPR3B_HUMAN protein phosphatase 1, regulatory subunit 3B 227 CBM21. glycogen metabolic process p.G227D(2) endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 12 COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241) ATAGTTCTTGCCTCTGTTGCT 0.483 19 128 --- --- --- --- PXDNL 137902 broad.mit.edu 37 8 52321017 52321017 + Missense_Mutation SNP C C T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr8:52321017C>T ENST00000356297.4 - 17 3267 c.3167G>A c.(3166-3168)gGc>gAc p.G1056D PXDNL_ENST00000543296.1_Missense_Mutation_p.G1056D NM_144651.4 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 1056 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) TAATGTGTGGCCAAATCTAAA 0.493 4 40 --- --- --- --- VPS13B 157680 broad.mit.edu 37 8 100454735 100454735 + Missense_Mutation SNP G G A TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr8:100454735G>A ENST00000395996.1 + 23 3428 c.3317G>A c.(3316-3318)gGa>gAa p.G1106E VPS13B_ENST00000357162.2_Missense_Mutation_p.G1106E|VPS13B_ENST00000358544.2_Missense_Mutation_p.G1106E Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 1106 protein transport p.G1106E(2) NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) TGGTACCATGGACAAACCAGC 0.428 6 107 --- --- --- --- FAM91A1 157769 broad.mit.edu 37 8 124799551 124799551 + Missense_Mutation SNP C C T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr8:124799551C>T ENST00000334705.7 + 13 1375 c.1129C>T c.(1129-1131)Cgc>Tgc p.R377C FAM91A1_ENST00000521166.1_Missense_Mutation_p.R377C NM_144963.2 NP_659400 Q658Y4 F91A1_HUMAN family with sequence similarity 91, member A1 377 p.R377C(1) breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 28 Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00192) ACACACGAAGCGCATCGCATT 0.388 12 85 --- --- --- --- ALG2 85365 broad.mit.edu 37 9 101980873 101980873 + Silent SNP G G A TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr9:101980873G>A ENST00000476832.1 - 2 655 c.594C>T c.(592-594)gtC>gtT p.V198V ALG2_ENST00000319033.6_Silent_p.V105V NM_033087.3 NP_149078.1 Q9H553 ALG2_HUMAN ALG2, alpha-1,3/1,6-mannosyltransferase 198 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in endoplasmic reticulum|protein N-linked glycosylation via asparagine|response to calcium ion endoplasmic reticulum membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm alpha-1,3-mannosyltransferase activity|calcium-dependent protein binding|glycolipid 3-alpha-mannosyltransferase activity|protein anchor|protein heterodimerization activity|protein N-terminus binding p.V198V(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|prostate(2) 22 Acute lymphoblastic leukemia(62;0.0559) ATGGATAGAGGACATCAGGGT 0.468 13 118 --- --- --- --- ZNF462 58499 broad.mit.edu 37 9 109689585 109689585 + Missense_Mutation SNP T T C TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr9:109689585T>C ENST00000277225.5 + 3 3681 c.3392T>C c.(3391-3393)gTc>gCc p.V1131A ZNF462_ENST00000457913.1_Missense_Mutation_p.V1131A Q96JM2 ZN462_HUMAN zinc finger protein 462 1131 transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.V1131A(1) NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 GGAGTGCTTGTCCACTACCAG 0.532 16 238 --- --- --- --- NUP188 23511 broad.mit.edu 37 9 131768055 131768055 + Splice_Site SNP G G T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr9:131768055G>T ENST00000372577.2 + 41 4890 c.4869G>T c.(4867-4869)gaG>gaT p.E1623D NM_015354.1 NP_056169.1 Q5SRE5 NU188_HUMAN nucleoporin 188kDa 1623 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding p.E1623D(1) breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 60 TGCTTGGAGAGGTAAGTTGGT 0.597 18 296 --- --- --- --- MFAP5 8076 broad.mit.edu 37 12 8804283 8804283 + Silent SNP G G T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr12:8804283G>T ENST00000359478.2 - 7 409 c.222C>A c.(220-222)tcC>tcA p.S74S MFAP5_ENST00000543369.1_Intron|MFAP5_ENST00000540087.1_Intron|MFAP5_ENST00000535336.1_Intron|MFAP5_ENST00000396549.2_Intron|MFAP5_ENST00000433590.2_Intron NM_003480.2 NP_003471.1 Q13361 MFAP5_HUMAN microfibrillar associated protein 5 74 microfibril extracellular matrix structural constituent breast(1)|endometrium(2)|large_intestine(4)|lung(5)|skin(1) 13 Lung SC(5;0.184) TTTCACTGAGGGAGGCTGAAA 0.433 8 167 --- --- --- --- TRPV4 59341 broad.mit.edu 37 12 110226321 110226321 + Missense_Mutation SNP G G T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr12:110226321G>T ENST00000418703.2 - 12 2186 c.2092C>A c.(2092-2094)Ctg>Atg p.L698M TRPV4_ENST00000537083.1_Missense_Mutation_p.L638M|TRPV4_ENST00000536838.1_Missense_Mutation_p.L664M|TRPV4_ENST00000346520.2_Missense_Mutation_p.L638M|TRPV4_ENST00000544971.1_Missense_Mutation_p.L591M|TRPV4_ENST00000541794.1_Missense_Mutation_p.L651M|TRPV4_ENST00000392719.2_Missense_Mutation_p.L651M|TRPV4_ENST00000261740.2_Missense_Mutation_p.L698M NM_001177431.1 NP_001170902.1 Q9HBA0 TRPV4_HUMAN transient receptor potential cation channel, subfamily V, member 4 698 actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding p.L698M(1) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1) 35 GTCACCAGCAGGATGATGAAG 0.567 18 184 --- --- --- --- LIG4 3981 broad.mit.edu 37 13 108861451 108861451 + Silent SNP C C T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr13:108861451C>T ENST00000356922.4 - 2 2438 c.2166G>A c.(2164-2166)aaG>aaA p.K722K LIG4_ENST00000442234.1_Silent_p.K722K|LIG4_ENST00000405925.1_Silent_p.K722K NM_002312.3|NM_206937.1 NP_002303.2|NP_996820.1 P49917 DNLI4_HUMAN ligase IV, DNA, ATP-dependent 722 BRCT 1. cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding p.K722K(1) cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104) GCCATGCAGGCTTGACAACAT 0.398 Non-homologous end-joining 11 124 --- --- --- --- COL4A2 1284 broad.mit.edu 37 13 111156530 111156530 + Nonsense_Mutation SNP G G T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr13:111156530G>T ENST00000360467.5 + 45 4627 c.4321G>T c.(4321-4323)Gga>Tga p.G1441* COL4A2-AS1_ENST00000417970.2_RNA NM_001846.2 NP_001837.2 P08572 CO4A2_HUMAN collagen, type IV, alpha 2 1441 Triple-helical region. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding p.G1441*(1) 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) TGGGCCCCAAGGAAGAGGTGG 0.622 12 122 --- --- --- --- KCNH5 27133 broad.mit.edu 37 14 63175050 63175050 + Nonsense_Mutation SNP G G A TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr14:63175050G>A ENST00000322893.7 - 11 2411 c.2143C>T c.(2143-2145)Cag>Tag p.Q715* KCNH5_ENST00000420622.2_3'UTR NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 715 Calmodulin-binding (Potential). regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity p.Q715*(1) NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) TCCTTCTGCTGCTTGAACTTC 0.562 14 208 --- --- --- --- C14orf159 80017 broad.mit.edu 37 14 91647609 91647609 + Silent SNP T T C TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr14:91647609T>C ENST00000518868.1 + 11 1500 c.810T>C c.(808-810)tgT>tgC p.C270C C14orf159_ENST00000523771.1_Silent_p.C265C|C14orf159_ENST00000412671.2_Silent_p.C270C|C14orf159_ENST00000256324.10_Silent_p.C270C|C14orf159_ENST00000525393.2_Silent_p.C141C|C14orf159_ENST00000522322.1_Silent_p.C265C|C14orf159_ENST00000521077.2_Silent_p.C270C|C14orf159_ENST00000428926.2_Silent_p.C265C|C14orf159_ENST00000520328.1_Silent_p.C253C|C14orf159_ENST00000523816.1_Silent_p.C265C Q7Z3D6 CN159_HUMAN chromosome 14 open reading frame 159 265 mitochondrion p.C265C(1) NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 21 all_cancers(154;0.0191)|all_epithelial(191;0.241) Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207) CACCTGGTTGTCTCACCCCAG 0.522 5 63 --- --- --- --- SERPINA10 51156 broad.mit.edu 37 14 94756667 94756667 + Silent SNP T T C TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr14:94756667T>C ENST00000554723.1 - 2 802 c.384A>G c.(382-384)cgA>cgG p.R128R SERPINA10_ENST00000261994.4_Silent_p.R88R|SERPINA10_ENST00000393096.1_Silent_p.R88R|SERPINA10_ENST00000554173.1_Silent_p.R88R Q9UK55 ZPI_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 88 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity p.R88R(1) haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 33 all_cancers(154;0.105) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) TGGAGATCTTTCGCAGCAGGC 0.567 14 60 --- --- --- --- FAM214A 56204 broad.mit.edu 37 15 52970217 52970217 + Translation_Start_Site SNP A A G TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr15:52970217A>G ENST00000261844.7 - 2 154 c.2T>C c.(1-3)aTg>aCg p.M1T FAM214A_ENST00000562351.1_5'UTR NM_019600.2 NP_062546.2 Q32MH5 K1370_HUMAN family with sequence similarity 214, member A 1 p.M1T(1) GTCTGGCTTCATTTTCACATC 0.453 14 134 --- --- --- --- DNAH9 1770 broad.mit.edu 37 17 11865470 11865470 + Missense_Mutation SNP A A C TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr17:11865470A>C ENST00000262442.4 + 68 13198 c.13130A>C c.(13129-13131)cAa>cCa p.Q4377P DNAH9_ENST00000608377.1_Missense_Mutation_p.Q689P|DNAH9_ENST00000454412.2_Missense_Mutation_p.Q4301P|RP11-1096G20.5_ENST00000580270.1_RNA|DNAH9_ENST00000396001.2_3'UTR NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 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) ATGGCCCTGCAATGTGACATG 0.562 9 106 --- --- --- --- MYO1D 4642 broad.mit.edu 37 17 31087406 31087406 + Missense_Mutation SNP T T C TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr17:31087406T>C ENST00000318217.5 - 10 1502 c.1198A>G c.(1198-1200)Atc>Gtc p.I400V MYO1D_ENST00000394649.4_Missense_Mutation_p.I312V|MYO1D_ENST00000584232.1_5'UTR|MYO1D_ENST00000583621.1_Missense_Mutation_p.I400V|MYO1D_ENST00000579584.1_Missense_Mutation_p.I400V NM_015194.1 NP_056009.1 O94832 MYO1D_HUMAN myosin ID 400 Myosin head-like. myosin complex actin binding|ATP binding|calmodulin binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 BRCA - Breast invasive adenocarcinoma(9;0.0362) CAGTAATTGATACAGAATTGT 0.368 7 150 --- --- --- --- TUBG2 27175 broad.mit.edu 37 17 40811928 40811928 + Silent SNP C C T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr17:40811928C>T ENST00000251412.7 + 2 325 c.126C>T c.(124-126)acC>acT p.T42T NM_016437.2 NP_057521.1 Q9NRH3 TBG2_HUMAN tubulin, gamma 2 42 G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization cytosol GTP binding|GTPase activity|structural molecule activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1) 15 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.141) AATTCGCCACCGAGGGCACTG 0.667 11 170 --- --- --- --- LAMA1 284217 broad.mit.edu 37 18 7007238 7007238 + Missense_Mutation SNP G G A rs138028986 TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr18:7007238G>A ENST00000389658.3 - 29 4253 c.4160C>T c.(4159-4161)gCa>gTa p.A1387V NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 1387 Laminin EGF-like 14; second part. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GTCACTCCCTGCTGGGAGCTT 0.557 4 49 --- --- --- --- KLHL14 57565 broad.mit.edu 37 18 30350295 30350295 + Missense_Mutation SNP G G T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr18:30350295G>T ENST00000359358.4 - 2 698 c.260C>A c.(259-261)cCg>cAg p.P87Q KLHL14_ENST00000358095.4_Missense_Mutation_p.P87Q|AC012123.1_ENST00000426194.1_Intron NM_020805.1 NP_065856.1 Q9P2G3 KLH14_HUMAN kelch-like family member 14 87 BTB. cytosol|endoplasmic reticulum membrane breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2) 31 ctgctgcggcggctgctgctg 0.726 4 54 --- --- --- --- KCNG2 26251 broad.mit.edu 37 18 77623902 77623902 + Missense_Mutation SNP C C T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr18:77623902C>T ENST00000316249.3 + 1 235 c.235C>T c.(235-237)Cgc>Tgc p.R79C NM_012283.1 NP_036415.1 Q9UJ96 KCNG2_HUMAN potassium voltage-gated channel, subfamily G, member 2 79 energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion voltage-gated potassium channel complex delayed rectifier potassium channel activity breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4) 18 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244) GTGCGCCTTCCGCGCCATCGT 0.711 4 14 --- --- --- --- ADNP2 22850 broad.mit.edu 37 18 77896569 77896569 + Silent SNP T T C TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr18:77896569T>C ENST00000262198.4 + 4 3728 c.3273T>C c.(3271-3273)ttT>ttC p.F1091F NM_014913.3 NP_055728.1 Q6IQ32 ADNP2_HUMAN ADNP homeobox 2 1091 cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.F1091F(1) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2) 42 all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2) Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164) CTTCATTTTTTGGAAAAAGAA 0.308 9 98 --- --- --- --- ZNF557 79230 broad.mit.edu 37 19 7075115 7075115 + Splice_Site SNP C C T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr19:7075115C>T ENST00000414706.1 + 3 503 c.30C>T c.(28-30)gcC>gcT p.A10A ZNF557_ENST00000252840.6_Splice_Site_p.A10A|ZNF557_ENST00000439035.2_Splice_Site_p.A10A NM_001044387.1|NM_001044388.1|NM_024341.2 NP_001037852.1|NP_001037853.1|NP_077317.2 Q8N988 ZN557_HUMAN zinc finger protein 557 10 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 17 Lung(535;0.179) CCCCAACTGCCGGTGAGTCAT 0.642 9 126 --- --- --- --- MUC16 94025 broad.mit.edu 37 19 8976368 8976368 + Missense_Mutation SNP C C A TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr19:8976368C>A ENST00000397910.4 - 75 42663 c.42460G>T c.(42460-42462)Ggc>Tgc p.G14154C MUC16_ENST00000596956.1_Intron|MUC16_ENST00000380951.5_Missense_Mutation_p.G795C NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 14185 SEA 14. Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.G14154C(2) 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 AGCCCGGGGCCCACAGGGTCA 0.597 10 58 --- --- --- --- RAB3A 5864 broad.mit.edu 37 19 18313413 18313413 + Silent SNP C C T rs144222621 TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr19:18313413C>T ENST00000222256.4 - 2 316 c.138G>A c.(136-138)tcG>tcA p.S46S RAB3A_ENST00000464076.3_Intron NM_002866.4 NP_002857.1 P20336 RAB3A_HUMAN RAB3A, member RAS oncogene family 46 glutamate secretion|protein transport|small GTPase mediated signal transduction clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|plasma membrane|synaptic vesicle GTP binding|GTPase activity p.S46S(2) NS(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 8 CAGGCGTGAACGAGTCGTCAG 0.542 OREG0025360 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 42 273 --- --- --- --- ZBTB32 27033 broad.mit.edu 37 19 36206307 36206307 + Missense_Mutation SNP C C A TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr19:36206307C>A ENST00000392197.2 + 3 1097 c.779C>A c.(778-780)cCt>cAt p.P260H ZBTB32_ENST00000262630.3_Missense_Mutation_p.P260H Q9Y2Y4 ZBT32_HUMAN zinc finger and BTB domain containing 32 260 DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleoplasm DNA binding|protein binding|transcription corepressor activity|zinc ion binding p.P260H(1) large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 14 all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GGGGGCCAGCCTGCCCTGTGG 0.672 14 135 --- --- --- --- ZNF574 64763 broad.mit.edu 37 19 42584668 42584668 + Missense_Mutation SNP G G A TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr19:42584668G>A ENST00000600245.1 + 2 2565 c.1910G>A c.(1909-1911)cGc>cAc p.R637H ZNF574_ENST00000359044.4_Missense_Mutation_p.R637H|ZNF574_ENST00000222339.7_Missense_Mutation_p.R727H Q6ZN55 ZN574_HUMAN zinc finger protein 574 637 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R637H(1) endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 20 Prostate(69;0.059) CAGCCCCACCGCTGCCCATCC 0.701 10 199 --- --- --- --- ZNF71 58491 broad.mit.edu 37 19 57132798 57132798 + Missense_Mutation SNP C C T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr19:57132798C>T ENST00000328070.6 + 3 377 c.143C>T c.(142-144)cCg>cTg p.P48L NM_021216.4 NP_067039.1 Q9NQZ8 ZNF71_HUMAN zinc finger protein 71 48 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 26 GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18) CCAGAGAGGCCGCGGGGAGAT 0.617 9 53 --- --- --- --- GRIK1 2897 broad.mit.edu 37 21 31062069 31062069 + Missense_Mutation SNP C C T rs143948570 TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr21:31062069C>T ENST00000399914.1 - 3 1044 c.523G>A c.(523-525)Gtg>Atg p.V175M GRIK1_ENST00000389124.2_Missense_Mutation_p.V175M|GRIK1_ENST00000309434.7_Missense_Mutation_p.V175M|GRIK1_ENST00000327783.4_Missense_Mutation_p.V175M|GRIK1_ENST00000535441.1_Missense_Mutation_p.V175M|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000399907.1_Missense_Mutation_p.V175M|GRIK1_ENST00000399909.1_Missense_Mutation_p.V175M|GRIK1_ENST00000399913.1_Missense_Mutation_p.V175M|GRIK1_ENST00000389125.3_Missense_Mutation_p.V175M P39086 GRIK1_HUMAN glutamate receptor, ionotropic, kainate 1 175 central nervous system development|synaptic transmission cell junction|postsynaptic membrane kainate selective glutamate receptor activity p.V175M(2) NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 45 L-Glutamic Acid(DB00142)|Topiramate(DB00273) TCATACACCACTGTCACTGTT 0.433 20 226 --- --- --- --- DHRSX 207063 broad.mit.edu 37 X 2184932 2184932 + Missense_Mutation SNP C C T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chrX:2184932C>T ENST00000334651.5 - 5 497 c.445G>A c.(445-447)Ggc>Agc p.G149S DHRSX_ENST00000464935.1_5'UTR NM_145177.2 NP_660160.2 Q8N5I4 DHRSX_HUMAN dehydrogenase/reductase (SDR family) X-linked 149 binding|oxidoreductase activity endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1) 16 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) TAGTTCAGGCCGAAATGTTCT 0.527 23 253 --- --- --- --- FLNA 2316 broad.mit.edu 37 X 153587627 153587627 + Silent SNP G G A TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chrX:153587627G>A ENST00000422373.1 - 25 4538 c.4290C>T c.(4288-4290)ggC>ggT p.G1430G FLNA_ENST00000369850.3_Silent_p.G1430G|FLNA_ENST00000360319.4_Silent_p.G1430G|FLNA_ENST00000344736.4_Silent_p.G1430G NM_001456.3 NP_001447.2 P21333 FLNA_HUMAN filamin A, alpha 1430 actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding p.G1430G(2) breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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) GCACTTGATGGCCACCATAGG 0.612 9 69 --- --- --- --- OR2M7 391196 broad.mit.edu 37 1 248487570 248487570 + Frame_Shift_Del DEL T T - TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr1:248487570delT ENST00000317965.2 - 1 329 c.301delA c.(301-303)attfs p.I101fs NM_001004691.1 NP_001004691.1 Q8NG81 OR2M7_HUMAN olfactory receptor, family 2, subfamily M, member 7 101 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3) 42 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) TAGAAGAAAATTTGTGTGGCA 0.468 9 513 --- --- --- --- THADA 63892 broad.mit.edu 37 2 43458187 43458187 + Frame_Shift_Del DEL A A - TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr2:43458187delA ENST00000405006.4 - 38 6113 c.5762delT c.(5761-5763)ttgfs p.L1921fs THADA_ENST00000405975.2_Frame_Shift_Del_p.L1921fs|AC010883.5_ENST00000423354.1_RNA|THADA_ENST00000330266.7_Intron|THADA_ENST00000415080.2_Frame_Shift_Del_p.L1602fs NM_001083953.1|NM_001271643.1 NP_001077422.1|NP_001258572.1 Q6YHU6 THADA_HUMAN thyroid adenoma associated 1921 binding breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 66 Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837) CTTTCCTTCCAAAAAGGCCAG 0.488 7 78 --- --- --- --- IL1F10 84639 broad.mit.edu 37 2 113832281 113832282 + Frame_Shift_Del DEL TC TC - TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr2:113832281_113832282delTC ENST00000337569.3 + 3 175_176 c.100_101delTC c.(100-102)tctfs p.S34fs IL1F10_ENST00000393197.2_Intron|IL1F10_ENST00000341010.2_Intron Q8WWZ1 IL1FA_HUMAN interleukin 1 family, member 10 (theta) 34 extracellular space cytokine activity|interleukin-1 receptor antagonist activity endometrium(1)|lung(6)|ovary(1) 8 CCTTGACTCTTCTCTCTCTTCC 0.584 16 321 --- --- --- --- ARHGAP15 55843 broad.mit.edu 37 2 144381770 144381770 + Frame_Shift_Del DEL T T - TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr2:144381770delT ENST00000295095.6 + 12 1239 c.1072delT c.(1072-1074)tttfs p.F359fs NM_018460.3 NP_060930.3 Q53QZ3 RHG15_HUMAN Rho GTPase activating protein 15 359 Rho-GAP. regulation of cell shape|small GTPase mediated signal transduction cytosol|membrane protein binding|Rac GTPase activator activity endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2) 34 BRCA - Breast invasive adenocarcinoma(221;0.151) ACTGAAGATGTTTTTCCGGGA 0.502 15 87 --- --- --- --- ENAM 10117 broad.mit.edu 37 4 71509665 71509666 + Frame_Shift_Ins INS - - AG TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr4:71509665_71509666insAG ENST00000396073.3 + 9 2803_2804 c.2522_2523insAG c.(2521-2526)ccagagfs p.PE841fs ENAM_ENST00000472903.1_Intron NM_031889.2 NP_114095.2 Q9NRM1 ENAM_HUMAN enamelin 841 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2) 6 Lung(101;0.235) ATGAATTCTCCAGAGAGAGAAC 0.421 15 145 --- --- --- --- DIMT1 27292 broad.mit.edu 37 5 61688029 61688029 + Frame_Shift_Del DEL T T - TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr5:61688029delT ENST00000199320.4 - 10 921 c.761delA c.(760-762)aacfs p.N254fs DIMT1_ENST00000506390.1_Frame_Shift_Del_p.N254fs|KIF2A_ENST00000509663.2_Intron NM_014473.2 NP_055288.1 Q9UNQ2 DIMT1_HUMAN DIM1 dimethyladenosine transferase 1 homolog (S. cerevisiae) 254 nucleolus RNA binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity AATTCTGTAGTTTTTTTCCAA 0.299 7 185 --- --- --- --- ERCC6 2074 broad.mit.edu 37 10 50680468 50680469 + Frame_Shift_Del DEL AC AC - TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr10:50680468_50680469delAC ENST00000355832.5 - 16 2955_2956 c.2877_2878delGT c.(2875-2880)gtgtacfs p.Y960fs ERCC6_ENST00000542458.1_Frame_Shift_Del_p.Y330fs|RP11-123B3.2_ENST00000423283.1_RNA NM_000124.2 NP_000115.1 Q03468 ERCC6_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6 960 Helicase C-terminal. base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 AGGAGCCTGTACACAGTCACTT 0.550 Direct reversal of damage;Nucleotide excision repair (NER) 8 298 --- --- --- --- TCF7L2 6934 broad.mit.edu 37 10 114925494 114925494 + Frame_Shift_Del DEL C C - rs61724286 TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr10:114925494delC ENST00000355995.4 + 15 2130 c.1623delC c.(1621-1623)gacfs p.D541fs TCF7L2_ENST00000538897.1_3'UTR|TCF7L2_ENST00000466338.1_3'UTR|TCF7L2_ENST00000543371.1_Frame_Shift_Del_p.D524fs|TCF7L2_ENST00000545257.1_Frame_Shift_Del_p.D541fs|TCF7L2_ENST00000542695.1_Frame_Shift_Del_p.D257fs|TCF7L2_ENST00000369386.1_3'UTR|TCF7L2_ENST00000369397.4_Frame_Shift_Del_p.D518fs|TCF7L2_ENST00000536810.1_Frame_Shift_Del_p.D524fs|TCF7L2_ENST00000355717.4_3'UTR Q9NQB0 TF7L2_HUMAN transcription factor 7-like 2 (T-cell specific, HMG-box) 541 anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus beta-catenin-TCF7L2 complex|PML body|protein-DNA complex armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding VTI1A/TCF7L2(8) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1) 41 Breast(234;0.058)|Colorectal(252;0.0615) Epithelial(162;0.00554)|all cancers(201;0.02) TGAAGCCCGACCCCCTGGCCC 0.697 T VTI1A colorectal 49 188 --- --- --- --- TRIM5 85363 broad.mit.edu 37 11 5686351 5686352 + Frame_Shift_Ins INS - - T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr11:5686351_5686352insT ENST00000305836.5 - 8 1471_1472 c.1169_1170insA c.(1168-1170)aatfs p.N390fs TRIM5_ENST00000483835.1_Intron|TRIM5_ENST00000396853.4_Intron|TRIM5_ENST00000380027.1_Intron|TRIM5_ENST00000396855.3_Intron|TRIM5_ENST00000380034.3_Frame_Shift_Ins_p.N390fs|TRIM5_ENST00000396847.3_3'UTR Q9C035 TRIM5_HUMAN tripartite motif containing 5 390 B30.2/SPRY. interspecies interaction between organisms|protein trimerization|response to virus cytoplasm|cytoplasmic mRNA processing body ligase activity|protein binding|protein homodimerization activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 21 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221) Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139) GATAATTTTCATTTTTTTCAAT 0.421 11 223 --- --- --- --- SNRPN 6638 broad.mit.edu 37 15 25223444 25223444 + Frame_Shift_Del DEL C C - TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr15:25223444delC ENST00000444203.2 + 7 1715 c.676delC c.(676-678)cccfs p.P229fs SNURF_ENST00000338094.6_3'UTR|SNURF_ENST00000551312.2_Intron|SNRPN_ENST00000346403.6_Frame_Shift_Del_p.P225fs|SNRPN_ENST00000390687.4_Frame_Shift_Del_p.P225fs|SNRPN_ENST00000554227.2_Frame_Shift_Del_p.P229fs|SNRPN_ENST00000400100.1_Frame_Shift_Del_p.P225fs|SNRPN_ENST00000577565.1_Frame_Shift_Del_p.P225fs|SNRPN_ENST00000400097.1_Frame_Shift_Del_p.P225fs|SNRPN_ENST00000400098.1_Frame_Shift_Del_p.P225fs P63162 RSMN_HUMAN small nuclear ribonucleoprotein polypeptide N 225 Repeat-rich region. RNA splicing small nuclear ribonucleoprotein complex|spliceosomal complex identical protein binding|RNA binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2) 24 all_cancers(20;9.33e-22)|Breast(32;0.000625) all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125) GGGAATGAGACCCCCTCCACC 0.552 Prader-Willi syndrome 14 256 --- --- --- ---