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 KIAA0562 9731 broad.mit.edu 37 1 3756341 3756341 + Splice_Site SNP C T T TCGA-06-2565-01A-01D-1494-08 TCGA-06-2565-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c866726d-2d95-4d23-b3d4-0e28a0b3da00 0dbed582-3fce-4c02-a12d-23da05d43a3e g.chr1:3756341C>T uc001aky.2 - 7 926 c.567_splice c.e7-1 p.R189_splice KIAA0562_uc010nzm.1_Splice_Site|KIAA0562_uc001akz.2_Splice_Site_p.R189_splice NM_014704 NP_055519 O60308 CE104_HUMAN glycine-, glutamate-, centriole binding 0 all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227) all_epithelial(116;3.96e-21)|all_lung(118;2.74e-08)|Lung NSC(185;6.4e-06)|Breast(487;0.00066)|Renal(390;0.00121)|Hepatocellular(190;0.00335)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.031)|Lung SC(97;0.0548)|Medulloblastoma(700;0.212) Epithelial(90;6.85e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.59e-22)|GBM - Glioblastoma multiforme(42;3.16e-16)|Colorectal(212;2.01e-05)|COAD - Colon adenocarcinoma(227;7.99e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000389)|Kidney(185;0.000513)|STAD - Stomach adenocarcinoma(132;0.00709)|KIRC - Kidney renal clear cell carcinoma(229;0.00714)|Lung(427;0.137) GTCAGATTTCCTAAAGGGAAG 0.423 MST1P9 11223 broad.mit.edu 37 1 17085791 17085791 + Missense_Mutation SNP G A A rs2297532 by1000genomes TCGA-06-2565-01A-01D-1494-08 TCGA-06-2565-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c866726d-2d95-4d23-b3d4-0e28a0b3da00 0dbed582-3fce-4c02-a12d-23da05d43a3e g.chr1:17085791G>A uc010ock.1 - 8 1030 c.1030C>T c.(1030-1032)CGT>TGT p.R344C CROCC_uc009voy.1_Intron|MST1P9_uc001azp.3_5'UTR NR_002729 SubName: Full=Hepatocyte growth factor-like protein homolog; 0 TCTGTACAACGCCGGATCTGG 0.692 LRRC40 55631 broad.mit.edu 37 1 70611582 70611582 + Silent SNP T C C TCGA-06-2565-01A-01D-1494-08 TCGA-06-2565-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c866726d-2d95-4d23-b3d4-0e28a0b3da00 0dbed582-3fce-4c02-a12d-23da05d43a3e g.chr1:70611582T>C uc001der.1 - 15 1762 c.1710A>G c.(1708-1710)TTA>TTG p.L570L NM_017768 NP_060238 Q9H9A6 LRC40_HUMAN leucine rich repeat containing 40 570 LRR 20. ovary(1) 1 CATCCAGTAGTAATGTTCTAA 0.313 IQGAP3 128239 broad.mit.edu 37 1 156497822 156497822 + Silent SNP C T T rs144640189 byFrequency TCGA-06-2565-01A-01D-1494-08 TCGA-06-2565-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c866726d-2d95-4d23-b3d4-0e28a0b3da00 0dbed582-3fce-4c02-a12d-23da05d43a3e g.chr1:156497822C>T uc001fpf.2 - 37 4779 c.4704G>A c.(4702-4704)CCG>CCA p.P1568P NM_178229 NP_839943 Q86VI3 IQGA3_HUMAN IQ motif containing GTPase activating protein 3 1568 small GTPase mediated signal transduction intracellular calmodulin binding|Ras GTPase activator activity ovary(5)|skin(1) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CCTCATCTCCCGGCGTGATGT 0.512 SELP 6403 broad.mit.edu 37 1 169562878 169562878 + Missense_Mutation SNP A G G TCGA-06-2565-01A-01D-1494-08 TCGA-06-2565-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c866726d-2d95-4d23-b3d4-0e28a0b3da00 0dbed582-3fce-4c02-a12d-23da05d43a3e g.chr1:169562878A>G uc001ggi.3 - 14 2437 c.2372T>C c.(2371-2373)CTC>CCC p.L791P SELP_uc001ggh.2_Intron|SELP_uc009wvr.2_Missense_Mutation_p.L790P NM_003005 NP_002996 P16109 LYAM3_HUMAN selectin P precursor 791 Helical; (Potential). platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding ovary(2)|skin(2) 4 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) CAAAGCCAGGAGCGTCCCACC 0.413 CRB1 23418 broad.mit.edu 37 1 197407699 197407699 + Missense_Mutation SNP G A A TCGA-06-2565-01A-01D-1494-08 TCGA-06-2565-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c866726d-2d95-4d23-b3d4-0e28a0b3da00 0dbed582-3fce-4c02-a12d-23da05d43a3e g.chr1:197407699G>A uc001gtz.2 + 10 3907 c.3772G>A c.(3772-3774)GTC>ATC p.V1258I CRB1_uc010poz.1_Missense_Mutation_p.V1234I|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.V1146I|CRB1_uc010ppb.1_Missense_Mutation_p.V722I|CRB1_uc010ppd.1_Missense_Mutation_p.V739I|CRB1_uc001gub.1_Missense_Mutation_p.V907I NM_201253 NP_957705 P82279 CRUM1_HUMAN crumbs homolog 1 precursor 1258 Extracellular (Potential).|EGF-like 18. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding ovary(5)|skin(3)|large_intestine(1) 9 ACCCTCAACAGTCTGTGGGAA 0.413 CACNA1S 779 broad.mit.edu 37 1 201028369 201028369 + Missense_Mutation SNP G A A TCGA-06-2565-01A-01D-1494-08 TCGA-06-2565-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c866726d-2d95-4d23-b3d4-0e28a0b3da00 0dbed582-3fce-4c02-a12d-23da05d43a3e g.chr1:201028369G>A uc001gvv.2 - 27 3700 c.3473C>T c.(3472-3474)ACT>ATT p.T1158I NM_000069 NP_000060 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, 1158 IV.|Helical; Name=S2 of repeat IV; (Potential). axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity ovary(3)|central_nervous_system(1)|skin(1) 5 Magnesium Sulfate(DB00653)|Verapamil(DB00661) GAAGATGATAGTGAAGGCCAC 0.597 OBSCN 84033 broad.mit.edu 37 1 228473808 228473808 + Missense_Mutation SNP G A A TCGA-06-2565-01A-01D-1494-08 TCGA-06-2565-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c866726d-2d95-4d23-b3d4-0e28a0b3da00 0dbed582-3fce-4c02-a12d-23da05d43a3e g.chr1:228473808G>A uc009xez.1 + 34 9078 c.9034G>A c.(9034-9036)GAG>AAG p.E3012K OBSCN_uc001hsn.2_Missense_Mutation_p.E3012K|OBSCN_uc001hsq.1_Missense_Mutation_p.E268K NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 3012 Ig-like 30. 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 stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) CGAGGACCTGGAGGATGTGGA 0.647 TRIM58 25893 broad.mit.edu 37 1 248028031 248028031 + Missense_Mutation SNP C T T TCGA-06-2565-01A-01D-1494-08 TCGA-06-2565-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c866726d-2d95-4d23-b3d4-0e28a0b3da00 0dbed582-3fce-4c02-a12d-23da05d43a3e g.chr1:248028031C>T uc001ido.2 + 3 589 c.541C>T c.(541-543)CGC>TGC p.R181C NM_015431 NP_056246 Q8NG06 TRI58_HUMAN tripartite motif-containing 58 181 intracellular zinc ion binding skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1) 7 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0286) OV - Ovarian serous cystadenocarcinoma(106;0.0319) GCAGAGGCAGCGCTTCAGATT 0.592 BMI1 648 broad.mit.edu 37 10 22617609 22617609 + Silent SNP C T T TCGA-06-2565-01A-01D-1494-08 TCGA-06-2565-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c866726d-2d95-4d23-b3d4-0e28a0b3da00 0dbed582-3fce-4c02-a12d-23da05d43a3e g.chr10:22617609C>T uc001irh.2 + 8 1191 c.552C>T c.(550-552)GAC>GAT p.D184D BMI1_uc009xkg.2_Silent_p.D327D NM_005180 NP_005171 P35226 BMI1_HUMAN BMI1 polycomb ring finger oncogene 184 Interaction with E4F1. hemopoiesis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fibroblast proliferation|positive regulation of ubiquitin-protein ligase activity|segment specification|transcription, DNA-dependent cytoplasm|nucleolus|PcG protein complex|ubiquitin ligase complex RING-like zinc finger domain binding|zinc ion binding ovary(1)|skin(1) 2 GTAAAATGGACATACCTAATA 0.299 PTCHD3 374308 broad.mit.edu 37 10 27702648 27702648 + Missense_Mutation SNP C T T TCGA-06-2565-01A-01D-1494-08 TCGA-06-2565-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c866726d-2d95-4d23-b3d4-0e28a0b3da00 0dbed582-3fce-4c02-a12d-23da05d43a3e g.chr10:27702648C>T uc001itu.2 - 1 650 c.532G>A c.(532-534)GCC>ACC p.A178T NM_001034842 NP_001030014 Q3KNS1 PTHD3_HUMAN patched domain containing 3 178 spermatid development integral to membrane hedgehog receptor activity ovary(2)|pancreas(1)|skin(1) 4 TCCGCCTTGGCCGGGCTCCCC 0.632 DNA2 1763 broad.mit.edu 37 10 70196997 70196997 + Missense_Mutation SNP C T T TCGA-06-2565-01A-01D-1494-08 TCGA-06-2565-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c866726d-2d95-4d23-b3d4-0e28a0b3da00 0dbed582-3fce-4c02-a12d-23da05d43a3e g.chr10:70196997C>T uc001jof.2 - 10 1675 c.1675G>A c.(1675-1677)GAG>AAG p.E559K DNA2_uc001jog.1_Missense_Mutation_p.E473K|DNA2_uc001joh.1_RNA NM_001080449 NP_001073918 P51530 DNA2L_HUMAN DNA replication helicase 2 homolog 473 base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication mitochondrial nucleoid|nucleoplasm 5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base 0 CCACTCTTCTCCCTATGAAAA 0.343 PTEN 5728 broad.mit.edu 37 10 89692818 89692818 + Missense_Mutation SNP T C C TCGA-06-2565-01A-01D-1494-08 TCGA-06-2565-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c866726d-2d95-4d23-b3d4-0e28a0b3da00 0dbed582-3fce-4c02-a12d-23da05d43a3e g.chr10:89692818T>C uc001kfb.2 + 6 1333 c.302T>C c.(301-303)ATC>ACC p.I101T NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 101 Phosphatase tensin-type. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.I101T(7)|p.R55fs*1(4)|p.?(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.H93fs*5(1)|p.I101M(1)|p.I101del(1)|p.I101N(1)|p.I101I(1)|p.I101fs*10(1)|p.F56fs*2(1) endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1) 2334 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) CTAGAACTTATCAAACCCTTT 0.368 31 D|Mis|N|F|S glioma| prostate|endometrial harmartoma|glioma| prostate|endometrial Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) FAM178A 55719 broad.mit.edu 37 10 102697209 102697209 + Silent SNP A G G TCGA-06-2565-01A-01D-1494-08 TCGA-06-2565-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c866726d-2d95-4d23-b3d4-0e28a0b3da00 0dbed582-3fce-4c02-a12d-23da05d43a3e g.chr10:102697209A>G uc001krt.3 + 10 3029 c.2487A>G c.(2485-2487)ACA>ACG p.T829T FAM178A_uc001krs.2_Silent_p.T829T NM_018121 NP_060591 Q8IX21 F178A_HUMAN hypothetical protein LOC55719 isoform 1 829 0 TTTTAAGTACATTGATGGAAA 0.308 OR56A3 390083 broad.mit.edu 37 11 5969282 5969282 + Missense_Mutation SNP G A A TCGA-06-2565-01A-01D-1494-08 TCGA-06-2565-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c866726d-2d95-4d23-b3d4-0e28a0b3da00 0dbed582-3fce-4c02-a12d-23da05d43a3e g.chr11:5969282G>A uc010qzt.1 + 1 706 c.706G>A c.(706-708)GGT>AGT p.G236S NM_001003443 NP_001003443 Q8NH54 O56A3_HUMAN olfactory receptor, family 56, subfamily A, 236 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CAAGGCAGAGGGTGCCGTGGC 0.522 NUMA1 4926 broad.mit.edu 37 11 71729889 71729889 + Missense_Mutation SNP C T T TCGA-06-2565-01A-01D-1494-08 TCGA-06-2565-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c866726d-2d95-4d23-b3d4-0e28a0b3da00 0dbed582-3fce-4c02-a12d-23da05d43a3e g.chr11:71729889C>T uc001orl.1 - 10 894 c.722G>A c.(721-723)CGC>CAC p.R241H NUMA1_uc009ysw.1_5'Flank|NUMA1_uc001ork.1_Missense_Mutation_p.R241H|NUMA1_uc001orm.1_Missense_Mutation_p.R241H|NUMA1_uc001orn.2_5'Flank|NUMA1_uc009ysx.1_Missense_Mutation_p.R241H|NUMA1_uc001oro.1_Missense_Mutation_p.R241H|NUMA1_uc009ysy.1_Missense_Mutation_p.R241H|NUMA1_uc001orp.2_Missense_Mutation_p.R241H|NUMA1_uc001orq.2_Missense_Mutation_p.R241H NM_006185 NP_006176 Q14980 NUMA1_HUMAN nuclear mitotic apparatus protein 1 241 Potential. G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole protein binding|structural molecule activity ovary(3)|lung(2)|skin(2)|central_nervous_system(1) 8 GAGGAGCTTGCGGTTCTCAGC 0.562 T RARA APL MLL 4297 broad.mit.edu 37 11 118376191 118376191 + Missense_Mutation SNP C T T rs147412214 TCGA-06-2565-01A-01D-1494-08 TCGA-06-2565-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c866726d-2d95-4d23-b3d4-0e28a0b3da00 0dbed582-3fce-4c02-a12d-23da05d43a3e g.chr11:118376191C>T uc001pta.2 + 27 9598 c.9575C>T c.(9574-9576)CCG>CTG p.P3192L MLL_uc001ptb.2_Missense_Mutation_p.P3195L NM_005933 NP_005924 Q03164 MLL1_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3192 apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1) 25 all_hematologic(175;0.046) all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244) OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144) CAGCCTCCTCCGGATCCCCAA 0.507 T|O MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB AML|ALL CD163L1 283316 broad.mit.edu 37 12 7531814 7531814 + Missense_Mutation SNP C T T TCGA-06-2565-01A-01D-1494-08 TCGA-06-2565-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c866726d-2d95-4d23-b3d4-0e28a0b3da00 0dbed582-3fce-4c02-a12d-23da05d43a3e g.chr12:7531814C>T uc001qsy.2 - 9 2157 c.2131G>A c.(2131-2133)GTG>ATG p.V711M CD163L1_uc010sge.1_Missense_Mutation_p.V721M NM_174941 NP_777601 Q9NR16 C163B_HUMAN scavenger receptor cysteine-rich type 1 711 SRCR 7.|Extracellular (Potential). extracellular region|integral to membrane|plasma membrane scavenger receptor activity ovary(8)|skin(2)|central_nervous_system(1) 11 AGAATTCCCACGGCACCCTGG 0.502 NCKAP1L 3071 broad.mit.edu 37 12 54914540 54914540 + Missense_Mutation SNP G A A TCGA-06-2565-01A-01D-1494-08 TCGA-06-2565-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c866726d-2d95-4d23-b3d4-0e28a0b3da00 0dbed582-3fce-4c02-a12d-23da05d43a3e g.chr12:54914540G>A uc001sgc.3 + 17 1767 c.1688G>A c.(1687-1689)CGT>CAT p.R563H NCKAP1L_uc010sox.1_Missense_Mutation_p.R105H|NCKAP1L_uc010soy.1_Missense_Mutation_p.R513H NM_005337 NP_005328 P55160 NCKPL_HUMAN NCK-associated protein 1-like 563 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|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 actin filament polymerization|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 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|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity ovary(3)|central_nervous_system(1) 4 GCCATGTTGCGTTATGCCATT 0.458 CCT2 10576 broad.mit.edu 37 12 69987309 69987309 + Missense_Mutation SNP C T T TCGA-06-2565-01A-01D-1494-08 TCGA-06-2565-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c866726d-2d95-4d23-b3d4-0e28a0b3da00 0dbed582-3fce-4c02-a12d-23da05d43a3e g.chr12:69987309C>T uc001svb.1 + 10 992 c.898C>T c.(898-900)CCT>TCT p.P300S CCT2_uc009zrm.1_RNA|CCT2_uc009zrn.1_Missense_Mutation_p.P300S|CCT2_uc010stl.1_Missense_Mutation_p.P253S NM_006431 NP_006422 P78371 TCPB_HUMAN chaperonin containing TCP1, subunit 2 300 'de novo' posttranslational protein folding nucleus ATP binding|unfolded protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187) Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24) TTATAATTATCCTGAACAGCT 0.264 UHRF1BP1L 23074 broad.mit.edu 37 12 100478382 100478382 + Missense_Mutation SNP C G G TCGA-06-2565-01A-01D-1494-08 TCGA-06-2565-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c866726d-2d95-4d23-b3d4-0e28a0b3da00 0dbed582-3fce-4c02-a12d-23da05d43a3e g.chr12:100478382C>G uc001tgq.2 - 10 1389 c.1160G>C c.(1159-1161)GGA>GCA p.G387A UHRF1BP1L_uc001tgr.2_Missense_Mutation_p.G387A|UHRF1BP1L_uc001tgp.2_Missense_Mutation_p.G37A NM_015054 NP_055869 A0JNW5 UH1BL_HUMAN UHRF1 (ICBP90) binding protein 1-like isoform a 387 ovary(2) 2 ATTGGCCCATCCATTTTTTGT 0.353 NOS1 4842 broad.mit.edu 37 12 117655934 117655934 + Silent SNP G A A TCGA-06-2565-01A-01D-1494-08 TCGA-06-2565-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c866726d-2d95-4d23-b3d4-0e28a0b3da00 0dbed582-3fce-4c02-a12d-23da05d43a3e g.chr12:117655934G>A uc001twm.1 - 28 4892 c.4206C>T c.(4204-4206)GTC>GTT p.V1402V NM_000620 NP_000611 P29475 NOS1_HUMAN nitric oxide synthase 1, neuronal 1402 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 arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding ovary(3)|skin(3)|pancreas(1) 7 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) TTCGCAGGGTGACTCCAAAAA 0.483 SOCS4 122809 broad.mit.edu 37 14 55510054 55510054 + Missense_Mutation SNP G A A TCGA-06-2565-01A-01D-1494-08 TCGA-06-2565-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c866726d-2d95-4d23-b3d4-0e28a0b3da00 0dbed582-3fce-4c02-a12d-23da05d43a3e g.chr14:55510054G>A uc001xbo.2 + 3 860 c.295G>A c.(295-297)GTG>ATG p.V99M SOCS4_uc001xbp.2_Missense_Mutation_p.V99M NM_199421 NP_955453 Q8WXH5 SOCS4_HUMAN suppressor of cytokine signaling 4 99 intracellular signal transduction|negative regulation of signal transduction|regulation of growth ovary(1)|kidney(1) 2 GCAAGATGCCGTGGGGCAGTG 0.423 DACT1 51339 broad.mit.edu 37 14 59113060 59113060 + Missense_Mutation SNP C A A TCGA-06-2565-01A-01D-1494-08 TCGA-06-2565-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c866726d-2d95-4d23-b3d4-0e28a0b3da00 0dbed582-3fce-4c02-a12d-23da05d43a3e g.chr14:59113060C>A uc001xdw.2 + 4 1883 c.1719C>A c.(1717-1719)CAC>CAA p.H573Q DACT1_uc010trv.1_Missense_Mutation_p.H292Q|DACT1_uc001xdx.2_Missense_Mutation_p.H536Q|DACT1_uc010trw.1_Missense_Mutation_p.H292Q NM_016651 NP_057735 Q9NYF0 DACT1_HUMAN dapper 1 isoform 1 573 multicellular organismal development|Wnt receptor signaling pathway cytoplasm|nucleus large_intestine(2)|lung(2)|ovary(1) 5 ACCGGGGCCACAGGAACATGG 0.657 ZFYVE26 23503 broad.mit.edu 37 14 68274397 68274397 + Missense_Mutation SNP G A A TCGA-06-2565-01A-01D-1494-08 TCGA-06-2565-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c866726d-2d95-4d23-b3d4-0e28a0b3da00 0dbed582-3fce-4c02-a12d-23da05d43a3e g.chr14:68274397G>A uc001xka.2 - 5 743 c.604C>T c.(604-606)CGG>TGG p.R202W ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Missense_Mutation_p.R202W|ZFYVE26_uc010tta.1_Missense_Mutation_p.R202W NM_015346 NP_056161 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 202 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding ovary(9)|breast(2) 11 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) TGCAAAGCCCGCAATGCCTTT 0.612 CKB 1152 broad.mit.edu 37 14 103986328 103986328 + Missense_Mutation SNP T G G TCGA-06-2565-01A-01D-1494-08 TCGA-06-2565-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c866726d-2d95-4d23-b3d4-0e28a0b3da00 0dbed582-3fce-4c02-a12d-23da05d43a3e g.chr14:103986328T>G uc001ynf.1 - 8 1099 c.1019A>C c.(1018-1020)GAC>GCC p.D340A CKB_uc001yne.1_Missense_Mutation_p.D162A|CKB_uc010awr.1_Missense_Mutation_p.D271A NM_001823 NP_001814 P12277 KCRB_HUMAN brain creatine kinase 340 Phosphagen kinase C-terminal. D->E: No change in activity. creatine metabolic process cytosol ATP binding|creatine kinase activity 0 Melanoma(154;0.155) Epithelial(46;0.14) Creatine(DB00148) GCCCAGGCGGTCAGCGTTGGA 0.662 CXADRP2 646243 broad.mit.edu 37 15 22016463 22016463 + Missense_Mutation SNP A G G TCGA-06-2565-01A-01D-1494-08 TCGA-06-2565-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c866726d-2d95-4d23-b3d4-0e28a0b3da00 0dbed582-3fce-4c02-a12d-23da05d43a3e g.chr15:22016463A>G uc010tzk.1 - 1 416 c.254T>C c.(253-255)CTG>CCG p.L85P NR_024387 RecName: Full=Coxsackievirus and adenovirus receptor; AltName: Full=Coxsackievirus B-adenovirus receptor; AltName: Full=HCVADR; Short=hCAR; AltName: Full=CVB3-binding protein; Flags: Precursor; 0 AATATCTGACAGCTGAAAATT 0.388 GJD2 57369 broad.mit.edu 37 15 35044812 35044812 + Missense_Mutation SNP C T T TCGA-06-2565-01A-01D-1494-08 TCGA-06-2565-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c866726d-2d95-4d23-b3d4-0e28a0b3da00 0dbed582-3fce-4c02-a12d-23da05d43a3e g.chr15:35044812C>T uc001zis.1 - 2 833 c.833G>A c.(832-834)CGC>CAC p.R278H uc001zit.1_5'Flank NM_020660 NP_065711 Q9UKL4 CXD2_HUMAN gap junction protein, delta 2, 36kDa 278 Cytoplasmic (Potential). synaptic transmission connexon complex|integral to membrane gap junction channel activity 0 all_lung(180;9.67e-07) all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156) CTTGATCTTGCGCCATCCCAG 0.512 THSD4 79875 broad.mit.edu 37 15 71535188 71535188 + Missense_Mutation SNP G A A TCGA-06-2565-01A-01D-1494-08 TCGA-06-2565-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c866726d-2d95-4d23-b3d4-0e28a0b3da00 0dbed582-3fce-4c02-a12d-23da05d43a3e g.chr15:71535188G>A uc002atb.1 + 4 744 c.665G>A c.(664-666)GGG>GAG p.G222E THSD4_uc002atd.1_5'UTR NM_024817 NP_079093 Q6ZMP0 THSD4_HUMAN thrombospondin, type I, domain containing 4 222 TSP type-1 1. proteinaceous extracellular matrix metalloendopeptidase activity ovary(2) 2 CCCCAACATGGGCCTTTGTAC 0.597 KRT27 342574 broad.mit.edu 37 17 38938701 38938701 + Silent SNP G A A TCGA-06-2565-01A-01D-1494-08 TCGA-06-2565-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c866726d-2d95-4d23-b3d4-0e28a0b3da00 0dbed582-3fce-4c02-a12d-23da05d43a3e g.chr17:38938701G>A uc002hvg.2 - 1 86 c.45C>T c.(43-45)TGC>TGT p.C15C NM_181537 NP_853515 Q7Z3Y8 K1C27_HUMAN keratin 27 15 Head.|Gly-rich. cytoplasm|intermediate filament structural molecule activity 0 Breast(137;0.000812) CAGTGCCCCCGCAAGAGCCAA 0.582 MYO5B 4645 broad.mit.edu 37 18 47352977 47352977 + Missense_Mutation SNP C T T TCGA-06-2565-01A-01D-1494-08 TCGA-06-2565-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c866726d-2d95-4d23-b3d4-0e28a0b3da00 0dbed582-3fce-4c02-a12d-23da05d43a3e g.chr18:47352977C>T uc002leb.2 - 40 5699 c.5411G>A c.(5410-5412)CGG>CAG p.R1804Q MYO5B_uc002ldz.2_Missense_Mutation_p.R374Q|MYO5B_uc002lea.2_Missense_Mutation_p.R919Q NM_001080467 NP_001073936 Q9ULV0 MYO5B_HUMAN myosin VB 1804 protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity ovary(2)|skin(2)|central_nervous_system(1) 5 READ - Rectum adenocarcinoma(32;0.103) AGGGTCATTCCGCTCTTGTAG 0.408 RNF152 220441 broad.mit.edu 37 18 59483671 59483672 + Frame_Shift_Del DEL AG - - TCGA-06-2565-01A-01D-1494-08 TCGA-06-2565-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c866726d-2d95-4d23-b3d4-0e28a0b3da00 0dbed582-3fce-4c02-a12d-23da05d43a3e g.chr18:59483671_59483672delAG uc002lih.1 - 2 437_438 c.25_26delCT c.(25-27)CTGfs p.L9fs NM_173557 NP_775828 Q8N8N0 RN152_HUMAN ring finger protein 152 9 apoptosis|protein K48-linked ubiquitination integral to membrane|lysosomal membrane ubiquitin-protein ligase activity|zinc ion binding breast(1) 1 Colorectal(73;0.186) ACATTCCAGCAGAGAGTCCTGG 0.594 ZNF407 55628 broad.mit.edu 37 18 72345779 72345779 + Missense_Mutation SNP C T T TCGA-06-2565-01A-01D-1494-08 TCGA-06-2565-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c866726d-2d95-4d23-b3d4-0e28a0b3da00 0dbed582-3fce-4c02-a12d-23da05d43a3e g.chr18:72345779C>T uc002llw.2 + 1 2861 c.2804C>T c.(2803-2805)GCT>GTT p.A935V ZNF407_uc010xfc.1_Missense_Mutation_p.A935V|ZNF407_uc010dqu.1_Missense_Mutation_p.A935V|ZNF407_uc002llu.2_Missense_Mutation_p.A934V NM_017757 NP_060227 Q9C0G0 ZN407_HUMAN zinc finger protein 407 isoform 1 935 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.184) AAAAAGAATGCTGGCTCAGCA 0.453 TCF3 6929 broad.mit.edu 37 19 1623996 1623996 + Missense_Mutation SNP G A A TCGA-06-2565-01A-01D-1494-08 TCGA-06-2565-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c866726d-2d95-4d23-b3d4-0e28a0b3da00 0dbed582-3fce-4c02-a12d-23da05d43a3e g.chr19:1623996G>A uc002ltr.2 - 8 570 c.503C>T c.(502-504)ACG>ATG p.T168M TCF3_uc002lto.2_5'Flank|TCF3_uc002ltt.3_Missense_Mutation_p.T168M|TCF3_uc002ltq.2_Missense_Mutation_p.T117M|TCF3_uc002lts.1_Missense_Mutation_p.T84M NM_003200 NP_003191 P15923 TFE2_HUMAN transcription factor 3 isoform E12 168 B cell lineage commitment|B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus|protein complex|transcription factor complex bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding lung(2)|breast(2)|ovary(1)|large_intestine(1)|skin(1) 7 Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07) 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) CTTGGGCTGCGTGTCTGTTAG 0.612 T PBX1|HLF|TFPT pre B-ALL ZNF506 440515 broad.mit.edu 37 19 19905675 19905675 + Missense_Mutation SNP A G G TCGA-06-2565-01A-01D-1494-08 TCGA-06-2565-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c866726d-2d95-4d23-b3d4-0e28a0b3da00 0dbed582-3fce-4c02-a12d-23da05d43a3e g.chr19:19905675A>G uc010eci.2 - 4 1169 c.1021T>C c.(1021-1023)TAC>CAC p.Y341H ZNF506_uc002nog.2_Intron|ZNF506_uc002noh.3_Missense_Mutation_p.Y309H NM_001099269 NP_001092739 Q5JVG8 ZN506_HUMAN zinc finger protein 506 isoform 1 341 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|zinc ion binding 0 TCACATTTGTAGGGTACATCT 0.408 CEACAM20 125931 broad.mit.edu 37 19 45015149 45015149 + Missense_Mutation SNP G T T TCGA-06-2565-01A-01D-1494-08 TCGA-06-2565-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c866726d-2d95-4d23-b3d4-0e28a0b3da00 0dbed582-3fce-4c02-a12d-23da05d43a3e g.chr19:45015149G>T uc010ejn.1 - 12 1692 c.1676C>A c.(1675-1677)CCT>CAT p.P559H CEACAM20_uc010ejo.1_Missense_Mutation_p.P547H|CEACAM20_uc010ejp.1_Missense_Mutation_p.P466H|CEACAM20_uc010ejq.1_Missense_Mutation_p.P454H NM_001102597 NP_001096067 Q6UY09 CEA20_HUMAN carcinoembryonic antigen-related cell adhesion 559 Cytoplasmic (Potential). integral to membrane large_intestine(2) 2 Prostate(69;0.0352) GGGCATCAGAGGTTTGGGTGG 0.507 TFPT 29844 broad.mit.edu 37 19 54617886 54617886 + Missense_Mutation SNP C T T TCGA-06-2565-01A-01D-1494-08 TCGA-06-2565-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c866726d-2d95-4d23-b3d4-0e28a0b3da00 0dbed582-3fce-4c02-a12d-23da05d43a3e g.chr19:54617886C>T uc010yej.1 - 2 624 c.218G>A c.(217-219)CGC>CAC p.R73H TFPT_uc010erd.2_Missense_Mutation_p.R73H|PRPF31_uc002qdh.2_5'Flank|PRPF31_uc010yek.1_5'Flank NM_013342 NP_037474 P0C1Z6 TFPT_HUMAN TCF3 (E2A) fusion partner 73 apoptosis|DNA recombination|DNA repair|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|Ino80 complex DNA binding|protein binding 0 all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19) TTCCCGCTGGCGCCGCCGCCG 0.652 T TCF3 pre-B ALL GALNT14 79623 broad.mit.edu 37 2 31178570 31178570 + Missense_Mutation SNP C T T TCGA-06-2565-01A-01D-1494-08 TCGA-06-2565-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c866726d-2d95-4d23-b3d4-0e28a0b3da00 0dbed582-3fce-4c02-a12d-23da05d43a3e g.chr2:31178570C>T uc002rnr.2 - 6 1187 c.568G>A c.(568-570)GCC>ACC p.A190T GALNT14_uc002rnq.2_Missense_Mutation_p.A170T|GALNT14_uc002rns.2_Missense_Mutation_p.A195T|GALNT14_uc010ymr.1_Missense_Mutation_p.A155T|GALNT14_uc010ezo.1_Missense_Mutation_p.A157T|GALNT14_uc010ezp.1_Missense_Mutation_p.A161T NM_024572 NP_078848 Q96FL9 GLT14_HUMAN N-acetylgalactosaminyltransferase 14 190 Lumenal (Potential).|Catalytic subdomain A. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding upper_aerodigestive_tract(2)|skin(1) 3 Acute lymphoblastic leukemia(172;0.155) GTGCCCTGGGCGATGTCAGCG 0.597 LTBP1 4052 broad.mit.edu 37 2 33482448 33482448 + Silent SNP A G G TCGA-06-2565-01A-01D-1494-08 TCGA-06-2565-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c866726d-2d95-4d23-b3d4-0e28a0b3da00 0dbed582-3fce-4c02-a12d-23da05d43a3e g.chr2:33482448A>G uc002ros.2 + 12 2265 c.2265A>G c.(2263-2265)GTA>GTG p.V755V LTBP1_uc002rot.2_Silent_p.V429V|LTBP1_uc002rou.2_Silent_p.V429V|LTBP1_uc002rov.2_Intron|LTBP1_uc010ymz.1_Silent_p.V429V|LTBP1_uc010yna.1_Intron NM_206943 NP_996826 Q14766 LTBP1_HUMAN latent transforming growth factor beta binding 755 negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1) 8 all_hematologic(175;0.115) Medulloblastoma(90;0.215) AAGGACCTGTATTTGTCAAGC 0.502 ZAP70 7535 broad.mit.edu 37 2 98351132 98351132 + Missense_Mutation SNP G A A TCGA-06-2565-01A-01D-1494-08 TCGA-06-2565-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c866726d-2d95-4d23-b3d4-0e28a0b3da00 0dbed582-3fce-4c02-a12d-23da05d43a3e g.chr2:98351132G>A uc002syd.1 + 9 1246 c.1039G>A c.(1039-1041)GGC>AGC p.G347S ZAP70_uc010yvf.1_3'UTR|ZAP70_uc002sye.1_Missense_Mutation_p.G237S|ZAP70_uc002syf.1_Missense_Mutation_p.G40S NM_001079 NP_001070 P43403 ZAP70_HUMAN zeta-chain associated protein kinase 70kDa 347 Protein kinase.|ATP (By similarity). immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway cytosol|T cell receptor complex ATP binding|non-membrane spanning protein tyrosine kinase activity lung(4)|upper_aerodigestive_tract(1)|ovary(1) 6 ACTTGGCTGCGGCAACTTTGG 0.622 GCC2 9648 broad.mit.edu 37 2 109092033 109092033 + Missense_Mutation SNP A G G TCGA-06-2565-01A-01D-1494-08 TCGA-06-2565-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c866726d-2d95-4d23-b3d4-0e28a0b3da00 0dbed582-3fce-4c02-a12d-23da05d43a3e g.chr2:109092033A>G uc002tec.2 + 8 3057 c.2903A>G c.(2902-2904)AAT>AGT p.N968S GCC2_uc002ted.2_Missense_Mutation_p.N867S NM_181453 NP_852118 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain-containing 2 968 Potential. Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding ovary(1) 1 GAGAAAATAAATAAGATAAAA 0.299 KIF5C 3800 broad.mit.edu 37 2 149866823 149866823 + Silent SNP C A A TCGA-06-2565-01A-01D-1494-08 TCGA-06-2565-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c866726d-2d95-4d23-b3d4-0e28a0b3da00 0dbed582-3fce-4c02-a12d-23da05d43a3e g.chr2:149866823C>A uc010zbu.1 + 24 3093 c.2725C>A c.(2725-2727)CGG>AGG p.R909R KIF5C_uc002tws.1_RNA|KIF5C_uc002twu.1_Silent_p.R191R NM_004522 NP_004513 O60282 KIF5C_HUMAN kinesin family member 5C 909 |Globular. microtubule-based movement|organelle organization cytoplasm|kinesin complex|microtubule ATP binding|microtubule motor activity skin(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.108) GGAGGCCGTGCGGGCCAAGAA 0.632 DNTTIP1 116092 broad.mit.edu 37 20 44431987 44431987 + Silent SNP C A A TCGA-06-2565-01A-01D-1494-08 TCGA-06-2565-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c866726d-2d95-4d23-b3d4-0e28a0b3da00 0dbed582-3fce-4c02-a12d-23da05d43a3e g.chr20:44431987C>A uc002xpk.2 + 8 641 c.573C>A c.(571-573)TCC>TCA p.S191S NM_052951 NP_443183 Q9H147 TDIF1_HUMAN terminal deoxynucleotidyltransferase interacting 191 nucleus ovary(1)|central_nervous_system(1) 2 Myeloproliferative disorder(115;0.0122) AACCAAAATCCTGTGAACCAA 0.493 UMODL1 89766 broad.mit.edu 37 21 43539379 43539379 + Silent SNP C T T TCGA-06-2565-01A-01D-1494-08 TCGA-06-2565-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c866726d-2d95-4d23-b3d4-0e28a0b3da00 0dbed582-3fce-4c02-a12d-23da05d43a3e g.chr21:43539379C>T uc002zaf.1 + 15 2634 c.2634C>T c.(2632-2634)ACC>ACT p.T878T UMODL1_uc002zad.1_Silent_p.T806T|UMODL1_uc002zae.1_Silent_p.T934T|UMODL1_uc002zag.1_Silent_p.T1006T|UMODL1_uc002zal.1_5'Flank NM_001004416 NP_001004416 Q5DID0 UROL1_HUMAN uromodulin-like 1 isoform 1 precursor 878 Extracellular (Potential).|SEA 2. cytoplasm|extracellular region|integral to membrane|plasma membrane calcium ion binding|peptidase inhibitor activity ovary(2)|skin(1) 3 CATTTCTCACCGCCTTCCAGA 0.567 DNMT3L 29947 broad.mit.edu 37 21 45679526 45679526 + Missense_Mutation SNP C T T TCGA-06-2565-01A-01D-1494-08 TCGA-06-2565-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c866726d-2d95-4d23-b3d4-0e28a0b3da00 0dbed582-3fce-4c02-a12d-23da05d43a3e g.chr21:45679526C>T uc002zeg.1 - 4 704 c.220G>A c.(220-222)GCC>ACC p.A74T DNMT3L_uc002zeh.1_Missense_Mutation_p.A74T NM_175867 NP_787063 Q9UJW3 DNM3L_HUMAN cytosine-5-methyltransferase 3-like protein 74 GATA-type; atypical.|ADD. DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis cytosol enzyme activator activity|enzyme binding|metal ion binding skin(2) 2 Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781) TTACATGGGGCGCAGATCCCT 0.507 INPP5J 27124 broad.mit.edu 37 22 31523358 31523358 + Missense_Mutation SNP G A A TCGA-06-2565-01A-01D-1494-08 TCGA-06-2565-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c866726d-2d95-4d23-b3d4-0e28a0b3da00 0dbed582-3fce-4c02-a12d-23da05d43a3e g.chr22:31523358G>A uc003aju.3 + 6 1719 c.1627G>A c.(1627-1629)GTG>ATG p.V543M INPP5J_uc003ajv.3_Missense_Mutation_p.V176M|INPP5J_uc003ajs.3_Missense_Mutation_p.V176M|INPP5J_uc011alk.1_Missense_Mutation_p.V476M|INPP5J_uc010gwg.2_Missense_Mutation_p.V108M|INPP5J_uc003ajw.2_Translation_Start_Site|INPP5J_uc003ajt.3_Missense_Mutation_p.V175M|INPP5J_uc003ajx.2_5'Flank|INPP5J_uc003ajy.2_5'Flank|INPP5J_uc003ajz.2_5'Flank NM_001002837 NP_001002837 Q15735 PI5PA_HUMAN phosphatidylinositol (4,5) bisphosphate 543 Catalytic (Potential). cytoplasm|ruffle inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding skin(1) 1 CAAGGGTGGCGTGAGCGTGCG 0.632 SFI1 9814 broad.mit.edu 37 22 31957290 31957290 + Missense_Mutation SNP C T T TCGA-06-2565-01A-01D-1494-08 TCGA-06-2565-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c866726d-2d95-4d23-b3d4-0e28a0b3da00 0dbed582-3fce-4c02-a12d-23da05d43a3e g.chr22:31957290C>T uc003ale.2 + 8 1070 c.677C>T c.(676-678)ACG>ATG p.T226M SFI1_uc003ald.1_Missense_Mutation_p.T202M|SFI1_uc003alf.2_Missense_Mutation_p.T226M|SFI1_uc003alg.2_Missense_Mutation_p.T144M|SFI1_uc011alp.1_Missense_Mutation_p.T144M|SFI1_uc011alq.1_Missense_Mutation_p.T202M|SFI1_uc003alh.2_RNA NM_001007467 NP_001007468 A8K8P3 SFI1_HUMAN spindle assembly associated Sfi1 homolog isoform 226 G2/M transition of mitotic cell cycle centriole|cytosol central_nervous_system(1) 1 TGGTGGAGCACGTGGAGGCAG 0.572 OREG0026480 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) GTSE1 51512 broad.mit.edu 37 22 46725343 46725343 + Missense_Mutation SNP T C C TCGA-06-2565-01A-01D-1494-08 TCGA-06-2565-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c866726d-2d95-4d23-b3d4-0e28a0b3da00 0dbed582-3fce-4c02-a12d-23da05d43a3e g.chr22:46725343T>C uc011aqy.1 + 11 2227 c.2015T>C c.(2014-2016)TTC>TCC p.F672S GTSE1_uc011aqz.1_Missense_Mutation_p.F519S|GTSE1_uc003bhn.2_RNA|uc011ara.1_5'Flank|uc003bho.3_5'Flank NM_016426 NP_057510 Q9NYZ3 GTSE1_HUMAN G-2 and S-phase expressed 1 653 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process cytoplasmic microtubule ovary(1) 1 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00462) CTCATCGACTTCTGCGATACC 0.498 ZNF860 344787 broad.mit.edu 37 3 32030908 32030908 + Missense_Mutation SNP G C C TCGA-06-2565-01A-01D-1494-08 TCGA-06-2565-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c866726d-2d95-4d23-b3d4-0e28a0b3da00 0dbed582-3fce-4c02-a12d-23da05d43a3e g.chr3:32030908G>C uc011axg.1 + 2 886 c.337G>C c.(337-339)GAG>CAG p.E113Q NM_001137674 NP_001131146 A6NHJ4 ZN860_HUMAN zinc finger protein 860 113 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TCATGACTTTGAGTTTCAATG 0.388 SCN5A 6331 broad.mit.edu 37 3 38639416 38639416 + Missense_Mutation SNP C T T TCGA-06-2565-01A-01D-1494-08 TCGA-06-2565-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c866726d-2d95-4d23-b3d4-0e28a0b3da00 0dbed582-3fce-4c02-a12d-23da05d43a3e g.chr3:38639416C>T uc003cio.2 - 14 2260 c.2066G>A c.(2065-2067)CGT>CAT p.R689H SCN5A_uc003cin.2_Missense_Mutation_p.R689H|SCN5A_uc003cil.3_Missense_Mutation_p.R689H|SCN5A_uc010hhi.2_Missense_Mutation_p.R689H|SCN5A_uc010hhk.2_Missense_Mutation_p.R689H|SCN5A_uc011ayr.1_Missense_Mutation_p.R689H|SCN5A_uc010hhj.1_Missense_Mutation_p.R300H NM_198056 NP_932173 Q14524 SCN5A_HUMAN voltage-gated sodium channel type V alpha 689 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 ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1) 9 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) CTGGGCGAGACGGTTCCAGCA 0.537 GPR27 2850 broad.mit.edu 37 3 71804047 71804047 + Missense_Mutation SNP T G G TCGA-06-2565-01A-01D-1494-08 TCGA-06-2565-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c866726d-2d95-4d23-b3d4-0e28a0b3da00 0dbed582-3fce-4c02-a12d-23da05d43a3e g.chr3:71804047T>G uc011bge.1 + 1 847 c.847T>G c.(847-849)TGC>GGC p.C283G EIF4E3_uc003dox.2_5'Flank|EIF4E3_uc011bgd.1_5'Flank|EIF4E3_uc010hoc.2_5'Flank NM_018971 NP_061844 Q9NS67 GPR27_HUMAN G protein-coupled receptor 27 283 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(1) 1 Prostate(10;0.00899) BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156) GAAGAGGCTGTGCAAGATGTT 0.552 CD96 10225 broad.mit.edu 37 3 111356989 111356989 + Missense_Mutation SNP C T T rs140955483 TCGA-06-2565-01A-01D-1494-08 TCGA-06-2565-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c866726d-2d95-4d23-b3d4-0e28a0b3da00 0dbed582-3fce-4c02-a12d-23da05d43a3e g.chr3:111356989C>T uc003dxw.2 + 13 1669 c.1499C>T c.(1498-1500)ACG>ATG p.T500M CD96_uc003dxx.2_Missense_Mutation_p.T484M|CD96_uc010hpy.1_Missense_Mutation_p.T483M NM_198196 NP_937839 P40200 TACT_HUMAN CD96 antigen isoform 1 precursor 500 Extracellular (Potential).|Pro/Ser/Thr-rich. cell adhesion|immune response|regulation of immune response integral to plasma membrane skin(2)|central_nervous_system(1) 3 AATGGATCTACGAAAACTAAT 0.338 Opitz_Trigonocephaly_syndrome TNK2 10188 broad.mit.edu 37 3 195599202 195599203 + Frame_Shift_Del DEL CT - - TCGA-06-2565-01A-01D-1494-08 TCGA-06-2565-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c866726d-2d95-4d23-b3d4-0e28a0b3da00 0dbed582-3fce-4c02-a12d-23da05d43a3e g.chr3:195599202_195599203delCT uc003fvu.1 - 10 1938_1939 c.1395_1396delAG c.(1393-1398)ACAGGGfs p.T465fs TNK2_uc003fvq.1_5'Flank|TNK2_uc003fvr.1_5'UTR|TNK2_uc003fvs.1_Frame_Shift_Del_p.T497fs|TNK2_uc003fvt.1_Frame_Shift_Del_p.T528fs|TNK2_uc010hzw.1_RNA|TNK2_uc003fvv.1_Frame_Shift_Del_p.T295fs NM_005781 NP_005772 Q07912 ACK1_HUMAN tyrosine kinase, non-receptor, 2 isoform 1 465_466 CRIB. Missing (in Ref. 4; AAH08884). positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction adherens junction|cytoplasmic vesicle membrane|endosome|nucleus ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding ovary(3)|central_nervous_system(3)|lung(2)|stomach(1)|skin(1) 10 all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;0.000757) Adenosine triphosphate(DB00171) TCGCCATGCCCTGTGTGGATGA 0.673 PKD2 5311 broad.mit.edu 37 4 88987002 88987002 + Nonsense_Mutation SNP C T T TCGA-06-2565-01A-01D-1494-08 TCGA-06-2565-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c866726d-2d95-4d23-b3d4-0e28a0b3da00 0dbed582-3fce-4c02-a12d-23da05d43a3e g.chr4:88987002C>T uc003hre.2 + 12 2395 c.2329C>T c.(2329-2331)CAG>TAG p.Q777* PKD2_uc011cdf.1_Nonsense_Mutation_p.Q195*|PKD2_uc011cdg.1_Nonsense_Mutation_p.Q103*|PKD2_uc011cdh.1_5'UTR NM_000297 NP_000288 Q13563 PKD2_HUMAN polycystin 2 777 EF-hand.|EF-hand domain.|Cytoplasmic (Potential). basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity skin(1) 1 Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221) OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237) TGAACATCAGCAGATGAGAGA 0.443 TERT 7015 broad.mit.edu 37 5 1279521 1279521 + Missense_Mutation SNP C T T TCGA-06-2565-01A-01D-1494-08 TCGA-06-2565-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c866726d-2d95-4d23-b3d4-0e28a0b3da00 0dbed582-3fce-4c02-a12d-23da05d43a3e g.chr5:1279521C>T uc003jcb.1 - 5 2073 c.2015G>A c.(2014-2016)CGC>CAC p.R672H TERT_uc003jbz.1_5'UTR|TERT_uc003jca.1_Missense_Mutation_p.R672H|TERT_uc003jcc.1_Missense_Mutation_p.R672H|TERT_uc003jcd.1_RNA|TERT_uc003jce.1_RNA NM_198253 NP_937983 O14746 TERT_HUMAN telomerase reverse transcriptase isoform 1 672 Reverse transcriptase. anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase cytoplasm|nucleolus|PML body|telomerase holoenzyme complex protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity p.R672H(1) lung(7)|ovary(2)|central_nervous_system(2)|skin(1) 12 all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10) Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) GAGGCCGGGGCGCCGCGCCCG 0.697 TERT_Mutation-Associated_Haematological_Disorders|Congenital_Dyskeratosis|Pulmonary_Fibrosis_Idiopathic ADAMTS16 170690 broad.mit.edu 37 5 5222920 5222920 + Missense_Mutation SNP T G G TCGA-06-2565-01A-01D-1494-08 TCGA-06-2565-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c866726d-2d95-4d23-b3d4-0e28a0b3da00 0dbed582-3fce-4c02-a12d-23da05d43a3e g.chr5:5222920T>G uc003jdl.2 + 11 1762 c.1624T>G c.(1624-1626)TGG>GGG p.W542G ADAMTS16_uc003jdk.1_Missense_Mutation_p.W542G|ADAMTS16_uc003jdj.1_Missense_Mutation_p.W542G NM_139056 NP_620687 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 542 Disintegrin. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1) 8 TAAAGCCCTGTGGTGCCATCG 0.358 BASP1 10409 broad.mit.edu 37 5 17275820 17275820 + Silent SNP C T T TCGA-06-2565-01A-01D-1494-08 TCGA-06-2565-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c866726d-2d95-4d23-b3d4-0e28a0b3da00 0dbed582-3fce-4c02-a12d-23da05d43a3e g.chr5:17275820C>T uc003jfx.2 + 2 674 c.495C>T c.(493-495)GAC>GAT p.D165D NM_006317 NP_006308 P80723 BASP1_HUMAN brain abundant, membrane attached signal protein 165 glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding 0 CCAAAAGTGACGGGGCCCCAG 0.582 FBN2 2201 broad.mit.edu 37 5 127728882 127728882 + Missense_Mutation SNP C T T rs138046782 TCGA-06-2565-01A-01D-1494-08 TCGA-06-2565-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c866726d-2d95-4d23-b3d4-0e28a0b3da00 0dbed582-3fce-4c02-a12d-23da05d43a3e g.chr5:127728882C>T uc003kuu.2 - 10 1850 c.1411G>A c.(1411-1413)GTT>ATT p.V471I FBN2_uc003kuv.2_Missense_Mutation_p.V438I NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 471 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 ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 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) GCTCCCCCAACGCCAGGAGAA 0.577 PCDHGA1 56114 broad.mit.edu 37 5 140711985 140711985 + Silent SNP G A A TCGA-06-2565-01A-01D-1494-08 TCGA-06-2565-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c866726d-2d95-4d23-b3d4-0e28a0b3da00 0dbed582-3fce-4c02-a12d-23da05d43a3e g.chr5:140711985G>A uc003lji.1 + 1 1734 c.1734G>A c.(1732-1734)GCG>GCA p.A578A PCDHGA1_uc011dan.1_Silent_p.A578A NM_018912 NP_061735 Q9Y5H4 PCDG1_HUMAN protocadherin gamma subfamily A, 1 isoform 1 578 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1)|breast(1)|pancreas(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGAGCTGGCGCCCCTCTCCG 0.657 SPINK6 404203 broad.mit.edu 37 5 147585617 147585617 + Missense_Mutation SNP G A A TCGA-06-2565-01A-01D-1494-08 TCGA-06-2565-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c866726d-2d95-4d23-b3d4-0e28a0b3da00 0dbed582-3fce-4c02-a12d-23da05d43a3e g.chr5:147585617G>A uc003lpa.2 + 2 333 c.77G>A c.(76-78)GGA>GAA p.G26E NM_205841 NP_995313 Q6UWN8 ISK6_HUMAN serine protease inhibitor, Kazal type 6 26 Kazal-like. extracellular region serine-type endopeptidase inhibitor activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGTCAGGGAGGACAGGTCAGT 0.383 GPR116 221395 broad.mit.edu 37 6 46826170 46826170 + Missense_Mutation SNP G A A rs141322343 byFrequency TCGA-06-2565-01A-01D-1494-08 TCGA-06-2565-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c866726d-2d95-4d23-b3d4-0e28a0b3da00 0dbed582-3fce-4c02-a12d-23da05d43a3e g.chr6:46826170G>A uc003oyo.3 - 17 3759 c.3470C>T c.(3469-3471)ACG>ATG p.T1157M GPR116_uc011dwj.1_Missense_Mutation_p.T712M|GPR116_uc011dwk.1_Missense_Mutation_p.T586M|GPR116_uc003oyp.3_Missense_Mutation_p.T1015M|GPR116_uc003oyq.3_Missense_Mutation_p.T1157M|GPR116_uc010jzi.1_Missense_Mutation_p.T829M NM_001098518 NP_001091988 Q8IZF2 GP116_HUMAN G-protein coupled receptor 116 precursor 1157 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|skin(1) 2 Lung(136;0.192) ATTCTTCCTCGTATAGACTTC 0.557 EGFR 1956 broad.mit.edu 37 7 55211080 55211080 + Missense_Mutation SNP G A A TCGA-06-2565-01A-01D-1494-08 TCGA-06-2565-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c866726d-2d95-4d23-b3d4-0e28a0b3da00 0dbed582-3fce-4c02-a12d-23da05d43a3e g.chr7:55211080G>A uc003tqk.2 + 3 569 c.323G>A c.(322-324)AGA>AAA p.R108K EGFR_uc003tqh.2_Missense_Mutation_p.R108K|EGFR_uc003tqi.2_Missense_Mutation_p.R108K|EGFR_uc003tqj.2_Missense_Mutation_p.R108K|EGFR_uc010kzg.1_Missense_Mutation_p.R108K|EGFR_uc011kco.1_Missense_Mutation_p.R55K NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 108 Approximate.|Extracellular (Potential). 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 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 MAP kinase activity|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 stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.R108K(7)|p.V30_R297>G(5) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 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) CAGATCATCAGAGGAAATATG 0.423 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) EGFR 1956 broad.mit.edu 37 7 55240690 55240690 + Missense_Mutation SNP C G G TCGA-06-2565-01A-01D-1494-08 TCGA-06-2565-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c866726d-2d95-4d23-b3d4-0e28a0b3da00 0dbed582-3fce-4c02-a12d-23da05d43a3e g.chr7:55240690C>G uc003tqk.2 + 17 2180 c.1934C>G c.(1933-1935)TCC>TGC p.S645C EGFR_uc010kzg.1_Missense_Mutation_p.S600C|EGFR_uc011kco.1_Missense_Mutation_p.S592C NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 645 Extracellular (Potential). 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 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 MAP kinase activity|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 stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 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) AAGATCCCGTCCATCGCCACT 0.612 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) TYW1 55253 broad.mit.edu 37 7 66482862 66482862 + Nonsense_Mutation SNP G A A TCGA-06-2565-01A-01D-1494-08 TCGA-06-2565-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c866726d-2d95-4d23-b3d4-0e28a0b3da00 0dbed582-3fce-4c02-a12d-23da05d43a3e g.chr7:66482862G>A uc003tvn.2 + 6 742 c.593G>A c.(592-594)TGG>TAG p.W198* TYW1_uc010lai.2_RNA NM_018264 NP_060734 Q9NV66 TYW1_HUMAN radical S-adenosyl methionine and flavodoxin 198 FMN (By similarity).|Flavodoxin-like. tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity skin(1) 1 Lung NSC(55;0.0846)|all_lung(88;0.183) GTTGACAAGTGGCTCTGGATG 0.512 CD36 948 broad.mit.edu 37 7 80290463 80290463 + Silent SNP C T T TCGA-06-2565-01A-01D-1494-08 TCGA-06-2565-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c866726d-2d95-4d23-b3d4-0e28a0b3da00 0dbed582-3fce-4c02-a12d-23da05d43a3e g.chr7:80290463C>T uc003uhc.2 + 8 1050 c.366C>T c.(364-366)TTC>TTT p.F122F CD36_uc003uhd.3_Silent_p.F122F|CD36_uc011kgv.1_Silent_p.F46F|CD36_uc003uhe.3_Silent_p.F122F|CD36_uc003uhf.3_Silent_p.F122F|CD36_uc003uhg.3_Silent_p.F122F|CD36_uc003uhh.3_Silent_p.F122F NM_001127444 NP_001120916 P16671 CD36_HUMAN CD36 antigen 122 Extracellular (Potential). cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation integral to plasma membrane|membrane fraction|platelet alpha granule membrane lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding ovary(1) 1 GTGCCATCTTCGAACCTTCAC 0.428 SEMA3E 9723 broad.mit.edu 37 7 83034830 83034830 + Frame_Shift_Del DEL C - - TCGA-06-2565-01A-01D-1494-08 TCGA-06-2565-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c866726d-2d95-4d23-b3d4-0e28a0b3da00 0dbed582-3fce-4c02-a12d-23da05d43a3e g.chr7:83034830delC uc003uhy.1 - 9 1400 c.934delG c.(934-936)GTTfs p.V312fs NM_012431 NP_036563 O15041 SEM3E_HUMAN semaphorin 3E precursor 312 Sema. axon guidance extracellular space|membrane receptor activity ovary(3) 3 Medulloblastoma(109;0.109) AGCAAAAAAACGTCCTCTGAA 0.313 ANK1 286 broad.mit.edu 37 8 41521227 41521227 + Missense_Mutation SNP C T T TCGA-06-2565-01A-01D-1494-08 TCGA-06-2565-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c866726d-2d95-4d23-b3d4-0e28a0b3da00 0dbed582-3fce-4c02-a12d-23da05d43a3e g.chr8:41521227C>T uc003xok.2 - 40 5512 c.5428G>A c.(5428-5430)GTG>ATG p.V1810M NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Missense_Mutation_p.V964M|ANK1_uc003xoi.2_Missense_Mutation_p.V1810M|ANK1_uc003xoj.2_Missense_Mutation_p.V1810M|ANK1_uc003xol.2_Missense_Mutation_p.V1648M|ANK1_uc003xom.2_Missense_Mutation_p.V1851M|ANK1_uc011lcl.1_Missense_Mutation_p.V85M|ANK1_uc003xod.2_Missense_Mutation_p.V85M|ANK1_uc003xoc.2_Missense_Mutation_p.V85M|ANK1_uc003xof.2_Missense_Mutation_p.V85M NM_020476 NP_065209 P16157 ANK1_HUMAN ankyrin 1 isoform 1 1810 55 kDa regulatory domain. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton ovary(3)|central_nervous_system(3)|lung(2)|breast(1) 9 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) TCCTCTGTCACCTGCTCCCCT 0.537 RP1 6101 broad.mit.edu 37 8 55537454 55537454 + Nonsense_Mutation SNP C T T TCGA-06-2565-01A-01D-1494-08 TCGA-06-2565-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c866726d-2d95-4d23-b3d4-0e28a0b3da00 0dbed582-3fce-4c02-a12d-23da05d43a3e g.chr8:55537454C>T uc003xsd.1 + 4 1160 c.1012C>T c.(1012-1014)CGA>TGA p.R338* RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 338 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 skin(7)|ovary(4)|pancreas(1) 12 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) GATGAAAGTTCGATTCAGAAT 0.328 SLCO5A1 81796 broad.mit.edu 37 8 70650427 70650427 + Missense_Mutation SNP G T T TCGA-06-2565-01A-01D-1494-08 TCGA-06-2565-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c866726d-2d95-4d23-b3d4-0e28a0b3da00 0dbed582-3fce-4c02-a12d-23da05d43a3e g.chr8:70650427G>T uc003xyl.2 - 5 1978 c.1271C>A c.(1270-1272)GCA>GAA p.A424E SLCO5A1_uc010lzb.2_Intron|SLCO5A1_uc011lfa.1_Intron|SLCO5A1_uc003xyk.2_Missense_Mutation_p.A424E|SLCO5A1_uc010lzc.2_Intron NM_030958 NP_112220 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, 424 Cytoplasmic (Potential). integral to membrane|plasma membrane transporter activity ovary(3)|upper_aerodigestive_tract(1) 4 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) CCTGACAGCTGCTCTTGGTAG 0.348 KLF10 7071 broad.mit.edu 37 8 103662460 103662460 + Missense_Mutation SNP G A A TCGA-06-2565-01A-01D-1494-08 TCGA-06-2565-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c866726d-2d95-4d23-b3d4-0e28a0b3da00 0dbed582-3fce-4c02-a12d-23da05d43a3e g.chr8:103662460G>A uc011lhk.1 - 4 1497 c.1343C>T c.(1342-1344)GCC>GTC p.A448V KLF10_uc011lhj.1_Missense_Mutation_p.A437V NM_005655 NP_005646 Q13118 KLF10_HUMAN Kruppel-like factor 10 isoform a 448 C2H2-type 3. cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169) OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826) ATGGCGCCGGGCATGCTTGGT 0.542 HEMGN 55363 broad.mit.edu 37 9 100698486 100698486 + Missense_Mutation SNP A G G TCGA-06-2565-01A-01D-1494-08 TCGA-06-2565-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c866726d-2d95-4d23-b3d4-0e28a0b3da00 0dbed582-3fce-4c02-a12d-23da05d43a3e g.chr9:100698486A>G uc004axy.2 - 2 248 c.140T>C c.(139-141)GTG>GCG p.V47A HEMGN_uc004axz.2_Missense_Mutation_p.V47A NM_197978 NP_932095 Q9BXL5 HEMGN_HUMAN hemogen 47 Necessary for nuclear localization. cell differentiation|multicellular organismal development ovary(1) 1 Acute lymphoblastic leukemia(62;0.0559) CTTTTCATGCACTTCAGCTTT 0.299 CNKSR2 22866 broad.mit.edu 37 X 21450738 21450739 + Frame_Shift_Ins INS - T T TCGA-06-2565-01A-01D-1494-08 TCGA-06-2565-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c866726d-2d95-4d23-b3d4-0e28a0b3da00 0dbed582-3fce-4c02-a12d-23da05d43a3e g.chrX:21450738_21450739insT uc004czx.1 + 3 273_274 c.237_238insT c.(235-240)GGCTTGfs p.G79fs CNKSR2_uc004czw.2_Frame_Shift_Ins_p.G79fs|CNKSR2_uc011mjn.1_Frame_Shift_Ins_p.G79fs|CNKSR2_uc011mjo.1_Frame_Shift_Ins_p.G79fs NM_014927 NP_055742 Q8WXI2 CNKR2_HUMAN connector enhancer of kinase suppressor of Ras 79_80 regulation of signal transduction cytoplasm|membrane protein binding large_intestine(1)|lung(1) 2 AGAATTATGGCTTGGAAACAGA 0.243 SMC1A 8243 broad.mit.edu 37 X 53430549 53430549 + Missense_Mutation SNP C T T TCGA-06-2565-01A-01D-1494-08 TCGA-06-2565-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c866726d-2d95-4d23-b3d4-0e28a0b3da00 0dbed582-3fce-4c02-a12d-23da05d43a3e g.chrX:53430549C>T uc004dsg.2 - 15 2438 c.2369G>A c.(2368-2370)CGG>CAG p.R790Q SMC1A_uc011moe.1_Missense_Mutation_p.R768Q NM_006306 NP_006297 Q14683 SMC1A_HUMAN structural maintenance of chromosomes 1A 790 Potential. R -> Q (in CDLS2). cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity ovary(5)|central_nervous_system(1) 6 CTCAAACTCCCGGATGTTGCG 0.517 SMC1A 8243 broad.mit.edu 37 X 53438785 53438785 + Missense_Mutation SNP C T T TCGA-06-2565-01A-01D-1494-08 TCGA-06-2565-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c866726d-2d95-4d23-b3d4-0e28a0b3da00 0dbed582-3fce-4c02-a12d-23da05d43a3e g.chrX:53438785C>T uc004dsg.2 - 7 1249 c.1180G>A c.(1180-1182)GAG>AAG p.E394K SMC1A_uc011moe.1_Missense_Mutation_p.E372K|SMC1A_uc011mof.1_Missense_Mutation_p.E160K NM_006306 NP_006297 Q14683 SMC1A_HUMAN structural maintenance of chromosomes 1A 394 Potential. cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity ovary(5)|central_nervous_system(1) 6 TTGAATTTCTCCAGCTCCTGG 0.498 FRMD7 90167 broad.mit.edu 37 X 131212246 131212246 + Missense_Mutation SNP C T T TCGA-06-2565-01A-01D-1494-08 TCGA-06-2565-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c866726d-2d95-4d23-b3d4-0e28a0b3da00 0dbed582-3fce-4c02-a12d-23da05d43a3e g.chrX:131212246C>T uc004ewn.2 - 12 1977 c.1799G>A c.(1798-1800)CGT>CAT p.R600H FRMD7_uc011muy.1_Missense_Mutation_p.R585H NM_194277 NP_919253 Q6ZUT3 FRMD7_HUMAN FERM domain containing 7 600 regulation of neuron projection development cytoskeleton|growth cone|neuronal cell body binding skin(1) 1 Acute lymphoblastic leukemia(192;0.000127) AAAAGGAAAACGAATAGTTTT 0.428 MAP7D3 79649 broad.mit.edu 37 X 135301831 135301831 + Splice_Site SNP C T T TCGA-06-2565-01A-01D-1494-08 TCGA-06-2565-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c866726d-2d95-4d23-b3d4-0e28a0b3da00 0dbed582-3fce-4c02-a12d-23da05d43a3e g.chrX:135301831C>T uc004ezt.2 - 17 2578 c.2487_splice c.e17-1 p.R829_splice MAP7D3_uc004ezs.2_Splice_Site_p.R793_splice|MAP7D3_uc011mwc.1_Splice_Site_p.R811_splice|MAP7D3_uc010nsa.1_Intron NM_024597 NP_078873 Q8IWC1 MA7D3_HUMAN MAP7 domain containing 3 cytoplasm|spindle ovary(2)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;0.000127) GGAAGATGGTCTGGAAAGAGA 0.418 AFF2 2334 broad.mit.edu 37 X 148038125 148038125 + Silent SNP G A A TCGA-06-2565-01A-01D-1494-08 TCGA-06-2565-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c866726d-2d95-4d23-b3d4-0e28a0b3da00 0dbed582-3fce-4c02-a12d-23da05d43a3e g.chrX:148038125G>A uc004fcp.2 + 11 3029 c.2550G>A c.(2548-2550)AAG>AAA p.K850K AFF2_uc004fcq.2_Silent_p.K840K|AFF2_uc004fcr.2_Silent_p.K811K|AFF2_uc011mxb.1_Silent_p.K815K|AFF2_uc004fcs.2_Silent_p.K817K|AFF2_uc011mxc.1_Silent_p.K491K NM_002025 NP_002016 P51816 AFF2_HUMAN fragile X mental retardation 2 850 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding ovary(3)|pancreas(2) 5 Acute lymphoblastic leukemia(192;6.56e-05) CAGCCCCTAAGGGCAAACGTA 0.517 Unknown 0 broad.mit.edu 37 X 155252868 155252868 + Silent SNP T A A TCGA-06-2565-01A-01D-1494-08 TCGA-06-2565-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c866726d-2d95-4d23-b3d4-0e28a0b3da00 0dbed582-3fce-4c02-a12d-23da05d43a3e g.chrX:155252868T>A uc004fnw.1 + 6 1571 c.912T>A c.(910-912)CCT>CCA p.P304P uc004fnx.3_Silent_p.P90P NM_182905 NP_878908 WAS protein family homolog 1 TAGCCGAGCCTCTCAAGGCAG 0.632