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 DEPDC1 55635 broad.mit.edu 37 1 68948183 68948183 + Missense_Mutation SNP C C G TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chr1:68948183C>G ENST00000456315.2 - 8 1422 c.1308G>C c.(1306-1308)gaG>gaC p.E436D RP4-694A7.2_ENST00000425820.1_RNA|DEPDC1_ENST00000370966.5_Intron NM_001114120.1 NP_001107592.1 Q5TB30 DEP1A_HUMAN DEP domain containing 1 436 intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex GTPase activator activity|protein binding p.E436D(1) endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(397;7.21e-36) CACTGGATGCCTCTTTACTTG 0.373 9 227 --- --- --- --- HNRNPLL 92906 broad.mit.edu 37 2 38818746 38818746 + Silent SNP G G C TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chr2:38818746G>C ENST00000449105.3 - 2 573 c.234C>G c.(232-234)gtC>gtG p.V78V HNRNPLL_ENST00000410076.1_Silent_p.V73V|HNRNPLL_ENST00000498516.1_5'UTR|HNRNPLL_ENST00000409328.1_Silent_p.V78V|HNRNPLL_ENST00000409636.1_Silent_p.V73V|HNRNPLL_ENST00000608859.1_Silent_p.V78V|HNRNPLL_ENST00000378915.3_Silent_p.V78V|HNRNPLL_ENST00000358367.4_Silent_p.V78V heterogeneous nuclear ribonucleoprotein L-like p.V78V(1)|p.V73V(1) CTCGAACATGGACGACGGGTG 0.433 17 123 --- --- --- --- TMEFF2 23671 broad.mit.edu 37 2 193056699 193056699 + Silent SNP T T C TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chr2:193056699T>C ENST00000409056.3 - 2 188 c.189A>G c.(187-189)gaA>gaG p.E63E TMEFF2_ENST00000392314.1_Silent_p.E63E|TMEFF2_ENST00000272771.5_Silent_p.E63E Q9UIK5 TEFF2_HUMAN transmembrane protein with EGF-like and two follistatin-like domains 2 63 E -> G (in Ref. 6; BAC11030). extracellular region|integral to membrane p.E63E(1) breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(117;0.0835) AGAGATCATTTTCTCTGTCAT 0.348 7 58 --- --- --- --- C3orf38 285237 broad.mit.edu 37 3 88202584 88202584 + Missense_Mutation SNP C C T TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chr3:88202584C>T ENST00000318887.3 + 2 648 c.338C>T c.(337-339)cCa>cTa p.P113L C3orf38_ENST00000486971.1_Missense_Mutation_p.P113L NM_173824.3 NP_776185.2 Q5JPI3 CC038_HUMAN chromosome 3 open reading frame 38 113 apoptosis p.P111L(1)|p.P113L(1) breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1) 12 Lung NSC(201;0.17) UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661) ACGCCAGAGCCAGTTACAAAG 0.368 5 71 --- --- --- --- SH3TC1 54436 broad.mit.edu 37 4 8235132 8235132 + Silent SNP G G A TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chr4:8235132G>A ENST00000539824.1 + 14 3320 c.2946G>A c.(2944-2946)ggG>ggA p.G982G SH3TC1_ENST00000245105.3_Silent_p.G1058G Q8TE82 S3TC1_HUMAN SH3 domain and tetratricopeptide repeats 1 1058 binding p.G1058G(1) NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 GAAGTCTGGGGATTTTCATTG 0.537 6 34 --- --- --- --- TRMT44 152992 broad.mit.edu 37 4 8467202 8467202 + Missense_Mutation SNP G G C TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chr4:8467202G>C ENST00000389737.4 + 8 1408 c.1408G>C c.(1408-1410)Gaa>Caa p.E470Q TRMT44_ENST00000513449.2_Missense_Mutation_p.E229Q NM_152544.2 NP_689757.2 tRNA methyltransferase 44 homolog (S. cerevisiae) p.E470Q(1)|p.E78Q(1) TCAGTACCGGGAATACCTTGA 0.473 5 126 --- --- --- --- CWH43 80157 broad.mit.edu 37 4 48994016 48994016 + Silent SNP T T C TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chr4:48994016T>C ENST00000226432.4 + 4 603 c.420T>C c.(418-420)taT>taC p.Y140Y CWH43_ENST00000513409.1_Silent_p.Y113Y NM_025087.2 NP_079363.2 Q9H720 PG2IP_HUMAN cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) 140 GPI anchor biosynthetic process integral to membrane p.Y140Y(1) cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 GCATATGGTATACTTCACTAA 0.368 13 111 --- --- --- --- PCDH18 54510 broad.mit.edu 37 4 138451489 138451489 + Missense_Mutation SNP G G A TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chr4:138451489G>A ENST00000344876.4 - 1 2140 c.1754C>T c.(1753-1755)aCg>aTg p.T585M PCDH18_ENST00000507846.1_Missense_Mutation_p.T365M|PCDH18_ENST00000412923.2_Missense_Mutation_p.T585M|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000511115.1_Intron NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 585 Cadherin 6. brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.T585M(1) NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) GATTTCTGCCGTATTATTACG 0.468 9 425 --- --- --- --- SNX18 112574 broad.mit.edu 37 5 53814839 53814839 + Missense_Mutation SNP A A T TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chr5:53814839A>T ENST00000343017.6 + 1 1251 c.1057A>T c.(1057-1059)Agg>Tgg p.R353W SNX18_ENST00000326277.3_Missense_Mutation_p.R353W|SNX18_ENST00000381410.4_Missense_Mutation_p.R353W NM_001145427.1 NP_001138899.1 Q96RF0 SNX18_HUMAN sorting nexin 18 353 PX. cell communication|endocytosis|positive regulation of GTPase activity|protein transport endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane phosphatidylinositol binding|protein binding p.R353W(3) endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2) 18 Lung NSC(810;3.46e-05)|Breast(144;0.102) CTCTAAGCGCAGGAAGGGCCT 0.652 7 64 --- --- --- --- TTC37 9652 broad.mit.edu 37 5 94857934 94857934 + Missense_Mutation SNP C C G TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chr5:94857934C>G ENST00000358746.2 - 19 2133 c.1835G>C c.(1834-1836)gGa>gCa p.G612A NM_014639.3 NP_055454.1 Q6PGP7 TTC37_HUMAN tetratricopeptide repeat domain 37 612 binding p.G612A(1) breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1) 47 TGTGTAGCCTCCTCTGCTTAA 0.413 19 137 --- --- --- --- SLC25A2 83884 broad.mit.edu 37 5 140682861 140682861 + Missense_Mutation SNP T T C TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chr5:140682861T>C ENST00000239451.4 - 1 751 c.572A>G c.(571-573)tAt>tGt p.Y191C NM_031947.2 NP_114153.1 Q9BXI2 ORNT2_HUMAN solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2 191 mitochondrial ornithine transport|urea cycle integral to membrane|mitochondrial inner membrane L-ornithine transmembrane transporter activity p.Y191C(1) breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 19 all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;0.00204) L-Ornithine(DB00129) GCTCAGTTCATAGCCACCAAA 0.458 12 122 --- --- --- --- EYS 346007 broad.mit.edu 37 6 66205253 66205253 + Silent SNP A A T TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chr6:66205253A>T ENST00000503581.1 - 4 588 c.51T>A c.(49-51)tcT>tcA p.S17S EYS_ENST00000370616.2_Silent_p.S17S|EYS_ENST00000370621.3_Silent_p.S17S|EYS_ENST00000393380.2_Silent_p.S17S|EYS_ENST00000342421.5_Silent_p.S17S|EYS_ENST00000370618.3_Silent_p.S17S NM_001142800.1 NP_001136272.1 Q5T1H1 EYS_HUMAN eyes shut homolog (Drosophila) 17 response to stimulus|visual perception extracellular region calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 69 CATTTATGAAAGAGCTGTGAA 0.378 16 95 --- --- --- --- HTR1E 3354 broad.mit.edu 37 6 87725481 87725481 + Silent SNP C C A TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chr6:87725481C>A ENST00000305344.5 + 2 1132 c.429C>A c.(427-429)atC>atA p.I143I NM_000865.2 NP_000856.1 P28566 5HT1E_HUMAN 5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane protein binding|serotonin binding|serotonin receptor activity p.I143I(1) breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3) 41 all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819) BRCA - Breast invasive adenocarcinoma(108;0.055) Eletriptan(DB00216) CGCTGATGATCCTTACCGTCT 0.582 12 83 --- --- --- --- SCARA5 286133 broad.mit.edu 37 8 27762295 27762295 + Missense_Mutation SNP T T G TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chr8:27762295T>G ENST00000524352.1 - 7 1535 c.1153A>C c.(1153-1155)Agt>Cgt p.S385R SCARA5_ENST00000301906.4_Missense_Mutation_p.S342R|SCARA5_ENST00000354914.3_Splice_Site_p.S385R|SCARA5_ENST00000380385.2_Splice_Site_p.S160R|SCARA5_ENST00000518030.1_Missense_Mutation_p.S342R|RP11-597M17.1_ENST00000517735.1_RNA Q6ZMJ2 SCAR5_HUMAN scavenger receptor class A, member 5 (putative) 385 cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization integral to plasma membrane ferritin receptor activity|scavenger receptor activity p.S385R(1) central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3) 18 Ovarian(32;0.0218) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228) ATGTCCTTACTGGCATCCCCA 0.532 6 51 --- --- --- --- RNLS 55328 broad.mit.edu 37 10 90342915 90342915 + Missense_Mutation SNP C C T TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chr10:90342915C>T ENST00000371947.3 - 1 1372 c.33G>A c.(31-33)atG>atA p.M11I RNLS_ENST00000466945.1_5'UTR|RNLS_ENST00000331772.4_Missense_Mutation_p.M11I|RNLS_ENST00000437752.1_Missense_Mutation_p.M11I NM_018363.3 NP_060833.1 Q5VYX0 RNLS_HUMAN renalase, FAD-dependent amine oxidase 11 extracellular region oxidoreductase activity p.M11I(1) breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1) 7 AGCTTCCTGTCATCCCGGCGC 0.647 OREG0020353 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 75 --- --- --- --- NUP98 4928 broad.mit.edu 37 11 3721914 3721914 + Missense_Mutation SNP T T C TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chr11:3721914T>C ENST00000324932.7 - 24 4088 c.3668A>G c.(3667-3669)aAt>aGt p.N1223S NUP98_ENST00000359171.4_Missense_Mutation_p.N1223S|NUP98_ENST00000355260.3_Missense_Mutation_p.N1223S NM_016320.4|NM_139132.3 NP_057404.2|NP_624358.2 P52948 NUP98_HUMAN nucleoporin 98kDa 1240 carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex protein binding|structural constituent of nuclear pore|transporter activity p.N1223S(1) NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) AACTCCCAGATTGGGGACAAT 0.418 T """HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11""" AML 5 94 --- --- --- --- NAV2 89797 broad.mit.edu 37 11 19955124 19955124 + Missense_Mutation SNP C C G TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chr11:19955124C>G ENST00000396085.1 + 7 1695 c.1334C>G c.(1333-1335)gCc>gGc p.A445G NAV2_ENST00000360655.4_Missense_Mutation_p.A381G|NAV2_ENST00000540292.1_Missense_Mutation_p.A399G|NAV2_ENST00000349880.4_Missense_Mutation_p.A445G|NAV2_ENST00000527559.2_Missense_Mutation_p.A397G|NAV2_ENST00000396087.3_Missense_Mutation_p.A468G NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 468 nucleus ATP binding|helicase activity p.A468G(1) NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 CTGGAGGCCGCCAGTCGCATG 0.647 4 60 --- --- --- --- NPAT 4863 broad.mit.edu 37 11 108032027 108032027 + Silent SNP A A G TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chr11:108032027A>G ENST00000278612.8 - 17 3891 c.3786T>C c.(3784-3786)agT>agC p.S1262S NM_002519.2 NP_002510.2 Q14207 NPAT_HUMAN nuclear protein, ataxia-telangiectasia locus 1262 positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle Cajal body protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity p.S1262S(1) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5) 46 all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116) GTAAATCACTACTATCAGCAA 0.438 6 234 --- --- --- --- C1S 716 broad.mit.edu 37 12 7177943 7177943 + Silent SNP C C T TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chr12:7177943C>T ENST00000406697.1 + 15 2683 c.2055C>T c.(2053-2055)ccC>ccT p.P685P C1S_ENST00000402681.3_Silent_p.P518P|C1S_ENST00000360817.5_Silent_p.P685P|C1S_ENST00000328916.3_Silent_p.P685P P09871 C1S_HUMAN complement component 1, s subcomponent 685 complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity p.P685P(1) breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 33 Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072) ATAGCACCCCCCGTGAGGACT 0.483 15 127 --- --- --- --- FREM2 341640 broad.mit.edu 37 13 39262558 39262558 + Silent SNP T T C TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chr13:39262558T>C ENST00000280481.7 + 1 1293 c.1077T>C c.(1075-1077)ctT>ctC p.L359L NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 359 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding p.L359L(1) NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) TCTTCAACCTTACTTCTCCAT 0.572 5 79 --- --- --- --- GPR183 1880 broad.mit.edu 37 13 99948335 99948335 + Missense_Mutation SNP T T G TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chr13:99948335T>G ENST00000376414.4 - 2 148 c.65A>C c.(64-66)gAc>gCc p.D22A UBAC2_ENST00000376440.2_Intron|UBAC2_ENST00000403766.3_Intron NM_004951.4 NP_004942.1 P32249 GP183_HUMAN G protein-coupled receptor 183 22 humoral immune response|mature B cell differentiation involved in immune response integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled p.D22A(1) cervix(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(10)|prostate(1)|skin(1) 23 TGCATAGAGGTCACAGTCATT 0.478 7 96 --- --- --- --- PROZ 8858 broad.mit.edu 37 13 113825982 113825982 + Missense_Mutation SNP G G A TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chr13:113825982G>A ENST00000342783.4 + 9 839 c.832G>A c.(832-834)Gac>Aac p.D278N PROZ_ENST00000375547.2_Missense_Mutation_p.D256N NM_001256134.1 NP_001243063.1 P22891 PROZ_HUMAN protein Z, vitamin K-dependent plasma glycoprotein 256 Peptidase S1. blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen calcium ion binding|serine-type endopeptidase activity p.D256N(1) NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2) 16 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_lung(25;0.216) all cancers(43;0.104) Menadione(DB00170) GTATGACGCGGACGCGGGGGA 0.562 9 129 --- --- --- --- DHRS7 51635 broad.mit.edu 37 14 60619800 60619800 + Missense_Mutation SNP A A C rs111656127 TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chr14:60619800A>C ENST00000216500.5 - 5 945 c.490T>G c.(490-492)Tta>Gta p.L164V DHRS7_ENST00000553986.1_5'UTR|PCNXL4_ENST00000406949.1_Intron|DHRS7_ENST00000536410.2_Missense_Mutation_p.L114V|PCNXL4_ENST00000553898.1_Intron|DHRS7_ENST00000557185.1_Missense_Mutation_p.L164V Q9Y394 DHRS7_HUMAN dehydrogenase/reductase (SDR family) member 7 164 binding|oxidoreductase activity p.L164V(1) endometrium(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1) 5 OV - Ovarian serous cystadenocarcinoma(108;0.121) ACCGTCCCTAAGTAGTTAAGC 0.443 16 174 --- --- --- --- IGHV1OR15-9 390531 broad.mit.edu 37 15 20170343 20170343 + RNA SNP A A G TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chr15:20170343A>G ENST00000338912.5 - 0 11 GGATCCTCCAAGTCCAGCCCA 0.522 6 195 --- --- --- --- ETFA 2108 broad.mit.edu 37 15 76584842 76584842 + Missense_Mutation SNP G G A TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chr15:76584842G>A ENST00000557943.1 - 4 361 c.281C>T c.(280-282)cCa>cTa p.P94L ETFA_ENST00000560726.1_5'UTR|ETFA_ENST00000559602.1_Intron|ETFA_ENST00000433983.2_Missense_Mutation_p.P45L NM_000126.3 NP_000117.1 P13804 ETFA_HUMAN electron-transfer-flavoprotein, alpha polypeptide 94 respiratory electron transport chain|transport mitochondrial matrix electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity p.P94L(1) endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 9 CAAAATCAATGGTGTCAGTTC 0.338 7 102 --- --- --- --- ITFG3 83986 broad.mit.edu 37 16 309488 309488 + Missense_Mutation SNP A A G TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chr16:309488A>G ENST00000399932.3 + 4 726 c.275A>G c.(274-276)tAt>tGt p.Y92C ITFG3_ENST00000442458.2_Missense_Mutation_p.Y92C|ITFG3_ENST00000600536.1_Missense_Mutation_p.Y92C|ITFG3_ENST00000301679.2_Missense_Mutation_p.Y92C|ITFG3_ENST00000301678.3_Missense_Mutation_p.Y92C|ITFG3_ENST00000450082.2_Missense_Mutation_p.Y92C NM_001284497.1 NP_001271426.1 Q9H0X4 ITFG3_HUMAN integrin alpha FG-GAP repeat containing 3 92 integral to membrane p.Y92C(1) central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 16 all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13) TCAGTTATCTATGACTTTCTG 0.453 19 369 --- --- --- --- PKD1 5310 broad.mit.edu 37 16 2140788 2140788 + Missense_Mutation SNP C C T TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chr16:2140788C>T ENST00000262304.4 - 44 12233 c.12025G>A c.(12025-12027)Gtg>Atg p.V4009M PKD1_ENST00000423118.1_Missense_Mutation_p.V4008M NM_001009944.2 NP_001009944 P98161 PKD1_HUMAN polycystic kidney disease 1 (autosomal dominant) 4009 calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding p.V4009M(1) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 CACTGGCGCACGAAGCGTAGC 0.672 14 78 --- --- --- --- CREBBP 1387 broad.mit.edu 37 16 3786756 3786756 + Silent SNP A A G TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chr16:3786756A>G ENST00000262367.5 - 27 5264 c.4455T>C c.(4453-4455)caT>caC p.H1485H CREBBP_ENST00000382070.3_Silent_p.H1447H NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 1485 Cys/His-rich.|Interaction with TRERF1. cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding p.H1485H(2) NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) GTGGGTGGCAATGGAAGATGT 0.512 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 16 169 --- --- --- --- XPO6 23214 broad.mit.edu 37 16 28157508 28157508 + Missense_Mutation SNP T T C TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chr16:28157508T>C ENST00000304658.5 - 9 1741 c.1241A>G c.(1240-1242)tAc>tGc p.Y414C XPO6_ENST00000565698.1_Missense_Mutation_p.Y400C NM_015171.3 NP_055986.1 Q96QU8 XPO6_HUMAN exportin 6 414 protein export from nucleus protein binding|protein transporter activity p.Y414C(3) breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 25 ACAAGAGAAGTAACCTTCATG 0.358 5 124 --- --- --- --- CRK 1398 broad.mit.edu 37 17 1359240 1359240 + Missense_Mutation SNP A A C TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chr17:1359240A>C ENST00000300574.2 - 1 312 c.172T>G c.(172-174)Tcc>Gcc p.S58A CRK_ENST00000574295.1_Missense_Mutation_p.S58A|CRK_ENST00000398970.5_Missense_Mutation_p.S58A|CRK_ENST00000572145.1_Intron NM_016823.3 NP_058431.2 P46108 CRK_HUMAN v-crk avian sarcoma virus CT10 oncogene homolog 58 SH2. actin cytoskeleton organization|activation of MAPKK activity|blood coagulation|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of transcription from RNA polymerase II promoter cytosol|endosome|nucleus|plasma membrane protein binding|SH2 domain binding p.S58A(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2) 9 UCEC - Uterine corpus endometrioid carcinoma (25;0.083) ATGTAGTGGGAGACGCGCGAG 0.731 7 40 --- --- --- --- NEURL4 84461 broad.mit.edu 37 17 7221921 7221921 + Missense_Mutation SNP A A G TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chr17:7221921A>G ENST00000399464.2 - 23 3772 c.3757T>C c.(3757-3759)Tct>Cct p.S1253P NEURL4_ENST00000574120.1_5'UTR|RP11-542C16.2_ENST00000575474.1_Silent_p.A66A|NEURL4_ENST00000570460.1_Missense_Mutation_p.S1229P|NEURL4_ENST00000315614.7_Missense_Mutation_p.S1251P NM_032442.2 NP_115818.2 neuralized E3 ubiquitin protein ligase 4 p.S1253P(1)|p.S1251P(1) central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 AGCCCCCCAGAGCTGTCCAGC 0.617 8 63 --- --- --- --- NLE1 54475 broad.mit.edu 37 17 33462276 33462276 + Silent SNP C C T TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chr17:33462276C>T ENST00000586869.1 - 9 1349 c.330G>A c.(328-330)agG>agA p.R110R NLE1_ENST00000360831.5_Silent_p.R360R|NLE1_ENST00000442241.4_Silent_p.R402R Q9NVX2 NLE1_HUMAN notchless homolog 1 (Drosophila) 402 nucleolus p.R402R(2) NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2) 22 Ovarian(249;0.17) ACTTGCCCGTCCTGCCATCCC 0.567 9 80 --- --- --- --- ZNF781 163115 broad.mit.edu 37 19 38160949 38160949 + Missense_Mutation SNP T T A TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chr19:38160949T>A ENST00000358582.4 - 4 849 c.101A>T c.(100-102)gAa>gTa p.E34V ZNF781_ENST00000590008.1_Missense_Mutation_p.E34V|ZFP30_ENST00000586732.1_Intron NM_152605.3 NP_689818.2 Q8N8C0 ZN781_HUMAN zinc finger protein 781 34 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E34V(1) NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 24 TATCTGACATTCATAGGGTTT 0.383 21 290 --- --- --- --- MED12 9968 broad.mit.edu 37 X 70349258 70349258 + Missense_Mutation SNP C C T TCGA-CH-5748-01A-11D-1576-08 TCGA-CH-5748-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx b436546f-99a3-4f71-b1aa-8653fe9471ec feca02f5-4ac6-4bff-8de2-4256809ab640 g.chrX:70349258C>T ENST00000333646.6 + 26 3869 c.3670C>T c.(3670-3672)Ctc>Ttc p.L1224F MED12_ENST00000374080.3_Missense_Mutation_p.L1224F|MED12_ENST00000374102.1_Missense_Mutation_p.L1224F NM_005120.2 NP_005111.2 Q93074 MED12_HUMAN mediator complex subunit 12 1224 androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding p.L1224F(10)|p.V1223>?(2)|p.L1224V(2) breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3) 420 Renal(35;0.156) GTTTGCTGTTCTCAAGGCTGT 0.562 """M, S""" uterine leiomyoma Opitz-Kaveggia Syndrome OREG0019857 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 33 --- --- --- ---