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 pox qox pox_cutoff isArtifactMode oxoGCut ADAP2 55803 broad.mit.edu 37 17 29272068 29272068 + Silent SNP G G A TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr17:29272068G>A ENST00000330889.3 + 6 989 c.654G>A c.(652-654)ggG>ggA p.G218G ADAP2_ENST00000580525.1_Silent_p.G224G NM_018404.2 NP_060874.1 Q9NPF8 ADAP2_HUMAN ArfGAP with dual PH domains 2 218 PH 1. heart development|regulation of ARF GTPase activity mitochondrial envelope|plasma membrane ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding p.?(1) breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 13 ATGAAAGTGGGAAGGTGAGAT 0.592000 14 31 0 0 1 0 0 GRM3 2913 broad.mit.edu 37 7 86493637 86493637 + Missense_Mutation SNP G G A TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr7:86493637G>A ENST00000361669.2 + 6 3705 c.2606G>A c.(2605-2607)cGg>cAg p.R869Q GRM3_ENST00000536043.1_Missense_Mutation_p.R741Q|GRM3_ENST00000394720.2_Silent_p.A511A|GRM3_ENST00000546348.1_Missense_Mutation_p.R461Q|GRM3_ENST00000439827.1_Silent_p.A513A NM_000840.2 NP_000831.2 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 869 synaptic transmission integral to plasma membrane NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) TGCAATGGGCGGGAAGTCCTC 0.473000 31 87 0 0 1 0 0 MAP3K9 4293 broad.mit.edu 37 14 71200025 71200025 + Missense_Mutation SNP C C G TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr14:71200025C>G ENST00000554752.2 - 11 2060 c.2061G>C c.(2059-2061)gaG>gaC p.E687D MAP3K9_ENST00000554146.1_Missense_Mutation_p.E415D|MAP3K9_ENST00000381250.4_Missense_Mutation_p.E664D|MAP3K9_ENST00000555993.2_Missense_Mutation_p.E701D|MAP3K9_ENST00000553414.1_Missense_Mutation_p.E420D P80192 M3K9_HUMAN mitogen-activated protein kinase kinase kinase 9 687 activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2) 46 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) gtaggcgactctctccactcc 0.532000 5 28 0 0 1 0 0 CECR6 27439 broad.mit.edu 37 22 17601203 17601203 + Missense_Mutation SNP G G T TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr22:17601203G>T ENST00000331437.3 - 1 940 c.815C>A c.(814-816)cCg>cAg p.P272Q CECR6_ENST00000399875.1_Intron NM_031890.3 NP_114096.1 Q9BXQ6 CECR6_HUMAN cat eye syndrome chromosome region, candidate 6 272 Ala-rich. haematopoietic_and_lymphoid_tissue(1) 1 all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132) Colorectal(9;0.221) ATGCAGGGGCGGCGCGGCGTG 0.806000 8 23 2.74318e-10 3.03121e-10 1 1 0 POM121 9883 broad.mit.edu 37 7 72413745 72413745 + Silent SNP C C T TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr7:72413745C>T ENST00000395270.1 + 14 3459 c.2418C>T c.(2416-2418)tcC>tcT p.S806S POM121_ENST00000257622.4_Silent_p.S806S|POM121_ENST00000446813.1_Silent_p.S806S|POM121_ENST00000358357.3_Silent_p.S806S|POM121_ENST00000434423.2_Silent_p.S1071S NM_001257190.1 NP_001244119.1 Q96HA1 P121A_HUMAN POM121 transmembrane nucleoporin 1071 Pore side (Potential).|Thr-rich. carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Lung NSC(55;0.163) CCACCAGCTCCGGCTTTGGAG 0.657000 8 90 0 0 1 0 0 HIST1H4B 8366 broad.mit.edu 37 6 26027344 26027344 + Missense_Mutation SNP C C T TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr6:26027344C>T ENST00000377364.3 - 1 136 c.137G>A c.(136-138)cGa>cAa p.R46Q NM_003544.2 NP_003535.1 P62805 H4_HUMAN histone cluster 1, H4b 46 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding p.R46Q(1) large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1) 13 ACCGGAAATTCGCTTAACCCC 0.572000 12 85 0 0 1 0 0 UCHL5 51377 broad.mit.edu 37 1 192998768 192998768 + Missense_Mutation SNP G G C TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr1:192998768G>C ENST00000367455.3 - 4 501 c.266C>G c.(265-267)gCt>gGt p.A89G UCHL5_ENST00000367452.4_5'UTR|UCHL5_ENST00000367448.1_Missense_Mutation_p.A89G|UCHL5_ENST00000367451.4_Missense_Mutation_p.A89G|UCHL5_ENST00000367449.1_Missense_Mutation_p.A89G|UCHL5_ENST00000530098.2_5'UTR|UCHL5_ENST00000367454.1_Missense_Mutation_p.A89G NM_015984.3 NP_057068.1 Q9Y5K5 UCHL5_HUMAN ubiquitin carboxyl-terminal hydrolase L5 89 DNA recombination|DNA repair|protein deubiquitination|regulation of proteasomal protein catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytosol|Ino80 complex|proteasome complex endopeptidase inhibitor activity|omega peptidase activity|proteasome binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(1)|lung(9)|ovary(1) 19 GGCTTGAGTAGCACAAGCATT 0.323000 5 26 0 0 1 0 0 ANGPTL2 23452 broad.mit.edu 37 9 129870815 129870815 + Missense_Mutation SNP T T C TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr9:129870815T>C ENST00000373425.3 - 2 813 c.196A>G c.(196-198)Acg>Gcg p.T66A ANGPTL2_ENST00000373417.1_Intron|RALGPS1_ENST00000259351.5_Intron|RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000394022.3_Intron|RALGPS1_ENST00000373436.1_Intron NM_012098.2 NP_036230.1 Q9UKU9 ANGL2_HUMAN angiopoietin-like 2 66 multicellular organismal development|signal transduction extracellular space receptor binding breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1) 18 ATGGCACCCGTGACCCGCTGC 0.572000 15 54 0 0 1 0 0 PTGIS 5740 broad.mit.edu 37 20 48129715 48129715 + Missense_Mutation SNP C C T TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr20:48129715C>T ENST00000244043.4 - 8 1137 c.1108G>A c.(1108-1110)Gca>Aca p.A370T PTGIS_ENST00000478971.1_5'UTR NM_000961.3 NP_000952.1 Q16647 PTGIS_HUMAN prostaglandin I2 (prostacyclin) synthase 370 hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 27 BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) Phenylbutazone(DB00812) CGCCCGTCTGCCATGGGCATG 0.617000 51 70 0 0 1 0 0 PSPH 5723 broad.mit.edu 37 7 56082733 56082733 + Missense_Mutation SNP C C T TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr7:56082733C>T ENST00000395471.3 - 7 1358 c.553G>A c.(553-555)Gaa>Aaa p.E185K PSPH_ENST00000275605.3_Missense_Mutation_p.E185K|PSPH_ENST00000459834.1_5'UTR P78330 SERB_HUMAN phosphoserine phosphatase 185 L-serine biosynthetic process cytoplasm calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1) 11 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) GGACAGGCTTCCATATCTGTG 0.289000 16 72 0 0 1 0 0 TAPBP 6892 broad.mit.edu 37 6 33272235 33272235 + Missense_Mutation SNP G G A TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr6:33272235G>A ENST00000434618.2 - 5 1394 c.1049C>T c.(1048-1050)tCg>tTg p.S350L TAPBP_ENST00000489157.1_Missense_Mutation_p.S263L|TAPBP_ENST00000456592.2_Missense_Mutation_p.S350L|TAPBP_ENST00000426633.2_Missense_Mutation_p.S350L|TAPBP_ENST00000475304.1_Missense_Mutation_p.S368L NM_003190.4|NM_172209.2 NP_003181.3|NP_757346.2 O15533 TPSN_HUMAN TAP binding protein (tapasin) 350 Ig-like C1-type. antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|MHC class I peptide loading complex|microsome MHC class I protein binding|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|unfolded protein binding endometrium(2)|large_intestine(5)|lung(8)|ovary(3) 18 GCGCAGGGCCGAGAGCCACCT 0.677000 11 60 0 0 1 0 0 GNPTAB 79158 broad.mit.edu 37 12 102158696 102158696 + Missense_Mutation SNP C C T TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr12:102158696C>T ENST00000299314.7 - 13 2261 c.1999G>A c.(1999-2001)Gag>Aag p.E667K NM_024312.4 NP_077288.2 Q3T906 GNPTA_HUMAN N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits 667 cell differentiation Golgi membrane|integral to membrane|nucleus metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 37 GGAATATCCTCAAAAAGGATT 0.428000 5 53 0 0 1 0 0 ZFP30 22835 broad.mit.edu 37 19 38126661 38126661 + Missense_Mutation SNP G G C TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr19:38126661G>C ENST00000351218.2 - 6 1338 c.781C>G c.(781-783)Caa>Gaa p.Q261E ZFP30_ENST00000514101.2_Missense_Mutation_p.Q261E|ZFP30_ENST00000392144.1_Missense_Mutation_p.Q261E|ZFP30_ENST00000589018.1_Intron NM_014898.2 NP_055713.1 Q9Y2G7 ZFP30_HUMAN ZFP30 zinc finger protein 261 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 21 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TGAATCCTTTGATGGAGATTA 0.423000 14 76 0 0 1 0 0 RP11-483E23.2 0 broad.mit.edu 37 15 28600002 28600002 + RNA SNP T T A TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr15:28600002T>A ENST00000568624.1 - 0 404 TTCGTATGGTTTGAACCTGGG 0.493000 4 67 0 0 1 0 0 SMARCA4 6597 broad.mit.edu 37 19 11101923 11101923 + Missense_Mutation SNP G G A TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr19:11101923G>A ENST00000358026.2 + 8 1627 c.1343G>A c.(1342-1344)cGc>cAc p.R448H SMARCA4_ENST00000589677.1_Missense_Mutation_p.R448H|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R448H|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R448H|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R448H|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R448H|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R448H|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R448H|SMARCA4_ENST00000429416.3_Missense_Mutation_p.R448H NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 448 chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) CAGTCCCTGCGCGAGGCCCGC 0.657000 """F, N, Mis""" NSCLC 6 38 0 0 1 0 0 COLGALT2 23127 broad.mit.edu 37 1 183913418 183913418 + Missense_Mutation SNP C C A TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr1:183913418C>A ENST00000361927.4 - 10 1680 c.1309G>T c.(1309-1311)Gac>Tac p.D437Y COLGALT2_ENST00000367521.1_Missense_Mutation_p.D45Y|COLGALT2_ENST00000546159.1_Missense_Mutation_p.D437Y|COLGALT2_ENST00000367520.3_Missense_Mutation_p.D174Y NM_015101.2 NP_055916.1 collagen beta(1-O)galactosyltransferase 2 CGCACATCGTCTTCAATTACA 0.403000 5 97 0.184627 0.184627 1 1 0 ZBED1 9189 broad.mit.edu 37 X 2408255 2408255 + Missense_Mutation SNP G G C TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chrX:2408255G>C ENST00000381223.4 - 2 709 c.506C>G c.(505-507)tCt>tGt p.S169C DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381218.3_Missense_Mutation_p.S169C|ZBED1_ENST00000381222.2_Missense_Mutation_p.S169C NM_001171135.1|NM_001171136.1|NM_004729.3 NP_001164606.1|NP_001164607.1|NP_004720.1 O96006 ZBED1_HUMAN zinc finger, BED-type containing 1 169 nuclear chromosome DNA binding|metal ion binding|protein dimerization activity|transposase activity endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1) 25 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GGCCTTGGTAGAGATGTACTT 0.642000 52 145 0 0 1 0 0 TPTE 7179 broad.mit.edu 37 21 10920159 10920159 + Missense_Mutation SNP G G T TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr21:10920159G>T ENST00000298232.7 - 18 1408 c.1041C>A c.(1039-1041)agC>agA p.S347R TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.S365R|TPTE_ENST00000342420.5_Missense_Mutation_p.S327R NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 365 Phosphatase tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) AATAATACAGGCTTTCCTACA 0.388000 5 73 5.9392e-07 6.37167e-07 1 1 0 FOXN3 1112 broad.mit.edu 37 14 89747335 89747335 + Missense_Mutation SNP G G A TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr14:89747335G>A ENST00000345097.4 - 4 820 c.704C>T c.(703-705)cCg>cTg p.P235L FOXN3_ENST00000557258.1_Missense_Mutation_p.P235L|FOXN3_ENST00000261302.5_Missense_Mutation_p.P235L|FOXN3_ENST00000555658.1_5'UTR|FOXN3_ENST00000555353.1_Missense_Mutation_p.P235L NM_001085471.1 NP_001078940.1 O00409 FOXN3_HUMAN forkhead box N3 235 DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 GGTACTGCCCGGCCAGATGGG 0.542000 3 40 0 0 1 0 0 SCN9A 6335 broad.mit.edu 37 2 167089911 167089911 + Missense_Mutation SNP G G A TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr2:167089911G>A ENST00000375387.4 - 21 4206 c.3866C>T c.(3865-3867)tCc>tTc p.S1289F SCN9A_ENST00000409672.1_Missense_Mutation_p.S1277F|SCN9A_ENST00000409435.1_Missense_Mutation_p.S1288F|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.S1289F Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 1288 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) TGTCCGAAGGGATTTAATGGG 0.323000 5 29 0 0 1 0 0 RNF123 63891 broad.mit.edu 37 3 49742512 49742512 + Silent SNP C C T TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr3:49742512C>T ENST00000327697.6 + 23 2199 c.2055C>T c.(2053-2055)ctC>ctT p.L685L RNF123_ENST00000432042.1_Silent_p.L539L NM_022064.3 NP_071347.2 Q5XPI4 RN123_HUMAN ring finger protein 123 685 cytoplasm ligase activity|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255) ACCGCTTCCTCAGCACAGCGG 0.687000 7 13 0 0 1 0 0 FCRL4 83417 broad.mit.edu 37 1 157556153 157556153 + Missense_Mutation SNP C C T TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr1:157556153C>T ENST00000271532.1 - 6 1075 c.940G>A c.(940-942)Gaa>Aaa p.E314K FCRL4_ENST00000448509.2_5'UTR NM_031282.2 NP_112572.1 Q96PJ5 FCRL4_HUMAN Fc receptor-like 4 314 Ig-like C2-type 4. integral to membrane|plasma membrane receptor activity breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 40 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.245) CCTGTGCCTTCAGCCACGGAG 0.612000 6 122 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274446 39274446 + Missense_Mutation SNP C C T TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr17:39274446C>T ENST00000391413.2 - 1 160 c.122G>A c.(121-123)cGc>cAc p.R41H NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 41 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) GCAGCTGGGGCGACAGTAGGT 0.667000 41 55 0 0 1 0 0 TSPAN4 7106 broad.mit.edu 37 11 864504 864504 + Missense_Mutation SNP C C T TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr11:864504C>T ENST00000397404.1 + 5 582 c.323C>T c.(322-324)aCg>aTg p.T108M TSPAN4_ENST00000397406.1_Missense_Mutation_p.T108M|TSPAN4_ENST00000397408.1_Missense_Mutation_p.T108M|TSPAN4_ENST00000525201.1_Missense_Mutation_p.T44M|TSPAN4_ENST00000397411.2_Missense_Mutation_p.T108M|TSPAN4_ENST00000346501.4_Missense_Mutation_p.T108M|TSPAN4_ENST00000397397.2_Missense_Mutation_p.T108M|TSPAN4_ENST00000409531.1_Missense_Mutation_p.T127M|TSPAN4_ENST00000409543.2_Missense_Mutation_p.T108M|TSPAN4_ENST00000397396.1_Missense_Mutation_p.T44M NM_001025237.1 NP_001020408.1 O14817 TSN4_HUMAN tetraspanin 4 108 protein complex assembly integral to plasma membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1) 3 all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24) all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) TTCGCCTACACGGACAAGGTA 0.657000 18 82 0 0 1 0 0 SYT16 83851 broad.mit.edu 37 14 62550927 62550927 + Missense_Mutation SNP C C T TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr14:62550927C>T ENST00000430451.2 + 5 1645 c.1448C>T c.(1447-1449)cCg>cTg p.P483L NM_031914.2 NP_114120.2 Q17RD7 SYT16_HUMAN synaptotagmin XVI 483 central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118) GGAGGGTCTCCGCTCAGCCCA 0.517000 17 70 0 0 1 0 0 TGDS 23483 broad.mit.edu 37 13 95243181 95243181 + Missense_Mutation SNP G G C TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr13:95243181G>C ENST00000261296.5 - 4 359 c.239C>G c.(238-240)tCt>tGt p.S80C TGDS_ENST00000498294.1_5'UTR NM_014305.2 NP_055120.1 O95455 TGDS_HUMAN TDP-glucose 4,6-dehydratase 80 cellular metabolic process coenzyme binding|dTDP-glucose 4,6-dehydratase activity|protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 8 all_neural(89;0.0684)|Medulloblastoma(90;0.163) CACAAAGTGAGAATCACATAT 0.353000 17 70 0 0 1 0 0 ESPNP 284729 broad.mit.edu 37 1 17030559 17030559 + RNA SNP G G C TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr1:17030559G>C ENST00000492551.1 - 0 776 NR_026567.1 CCGTGGTGTTGGGTGAGGACA 0.627000 19 94 0 0 1 0 0 ALDH1L1 10840 broad.mit.edu 37 3 125877269 125877269 + Missense_Mutation SNP C C T TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr3:125877269C>T ENST00000393434.2 - 3 690 c.341G>A c.(340-342)cGa>cAa p.R114Q ALDH1L1_ENST00000472186.1_Missense_Mutation_p.R114Q|ALDH1L1_ENST00000455064.2_Intron|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.R124Q|ALDH1L1_ENST00000393431.2_Missense_Mutation_p.R114Q|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.R114Q NM_012190.3 NP_036322.2 O75891 AL1L1_HUMAN aldehyde dehydrogenase 1 family, member L1 114 GART. 10-formyltetrahydrofolate catabolic process|biosynthetic process acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 52 GBM - Glioblastoma multiforme(114;0.0462) Tetrahydrofolic acid(DB00116) CGAGGCCCCTCGGTGCCTAGG 0.577000 3 18 0 0 1 0 0 KRT16 3868 broad.mit.edu 37 17 39768535 39768535 + Missense_Mutation SNP G G A TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr17:39768535G>A ENST00000301653.4 - 1 470 c.406C>T c.(406-408)Cgt>Tgt p.R136C NM_005557.3 NP_005548.2 P08779 K1C16_HUMAN keratin 16 136 Coil 1A.|Rod. cell proliferation|epidermis development intermediate filament protein binding|structural constituent of cytoskeleton NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 Breast(137;0.000307) TCCAGAGCACGCACCTTGTCC 0.577000 4 185 0 0 1 0 0 SYNJ2 8871 broad.mit.edu 37 6 158516916 158516916 + Silent SNP G G A TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr6:158516916G>A ENST00000355585.4 + 27 4086 c.4011G>A c.(4009-4011)aaG>aaA p.K1337K SYNJ2_ENST00000367122.2_Silent_p.K1292K|SYNJ2_ENST00000367112.1_Silent_p.K422K NM_001178088.1|NM_003898.3 NP_001171559.1|NP_003889.1 O15056 SYNJ2_HUMAN synaptojanin 2 1337 nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05) CGAGGAGGAAGAAGTCAGCCC 0.647000 22 89 0 0 1 0 0 PLCD1 5333 broad.mit.edu 37 3 38049775 38049775 + Silent SNP G G A rs143935807 TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr3:38049775G>A ENST00000463876.1 - 13 2402 c.2049C>T c.(2047-2049)ggC>ggT p.G683G PLCD1_ENST00000334661.4_Silent_p.G662G NM_001130964.1 NP_001124436.1 P51178 PLCD1_HUMAN phospholipase C, delta 1 662 C2. intracellular signal transduction|lipid catabolic process|phospholipid metabolic process cytoplasm calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1) 24 KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653) CCCGGCTCACGCCATGGATCT 0.567000 43 124 0 0 1 0 0 AMER1 139285 broad.mit.edu 37 X 63410190 63410190 + Missense_Mutation SNP T T A TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chrX:63410190T>A ENST00000330258.3 - 2 3249 c.2977A>T c.(2977-2979)Acc>Tcc p.T993S AMER1_ENST00000403336.1_Intron|AMER1_ENST00000374869.3_Intron NM_152424.3 NP_689637.3 APC membrane recruitment protein 1 p.0?(67) ATGCAACAGGTTGCCTGCCTA 0.567000 10 22 0 0 1 0 0 RPL18A 6142 broad.mit.edu 37 19 17972909 17972909 + Missense_Mutation SNP G G C TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr19:17972909G>C ENST00000600147.1 + 3 241 c.205G>C c.(205-207)Gag>Cag p.E69Q RPL18A_ENST00000599898.1_Missense_Mutation_p.E30Q|RPL18A_ENST00000222247.5_Missense_Mutation_p.E69Q|RPL18A_ENST00000599870.1_Missense_Mutation_p.E40Q Q02543 RL18A_HUMAN ribosomal protein L18a 69 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit protein binding|RNA binding|structural constituent of ribosome NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1) 5 GCAGGTGTTTGAGAAGTCCCC 0.607000 16 46 0 0 1 0 0 CAPS2 84698 broad.mit.edu 37 12 75706697 75706697 + Splice_Site SNP T T A TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr12:75706697T>A ENST00000393284.3 - 7 554 c.e7-2 CAPS2_ENST00000409445.3_Splice_Site|CAPS2_ENST00000442339.2_Splice_Site|CAPS2_ENST00000409799.1_Splice_Site|CAPS2_ENST00000409004.1_Splice_Site Q9BXY5 CAYP2_HUMAN calcyphosine 2 calcium ion binding endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1) 10 CACAATTTCCTGGGAAGATTA 0.343000 5 24 0 0 1 0 0 ZSWIM8 23053 broad.mit.edu 37 10 75556586 75556586 + Missense_Mutation SNP A A G TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr10:75556586A>G ENST00000604729.1 + 16 3385 c.3088A>G c.(3088-3090)Agt>Ggt p.S1030G ZSWIM8_ENST00000398706.2_Missense_Mutation_p.S1030G|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.S992G|ZSWIM8_ENST00000605216.1_Missense_Mutation_p.S1025G|NDST2_ENST00000456638.1_5'UTR|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.S1025G zinc finger, SWIM-type containing 8 ACAGACGCTGAGTTCTTTCTA 0.567000 13 99 0 0 1 0 0 NPR1 4881 broad.mit.edu 37 1 153659173 153659173 + Missense_Mutation SNP G G A TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr1:153659173G>A ENST00000368680.3 + 11 2282 c.1810G>A c.(1810-1812)Gac>Aac p.D604N NM_000906.3 NP_000897.3 P16066 ANPRA_HUMAN natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) 604 Protein kinase. body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325) AGCCTGCACCGACCCCCCCAA 0.592000 30 142 0 0 1 0 0 ZCWPW2 152098 broad.mit.edu 37 3 28454850 28454850 + Silent SNP T T A TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr3:28454850T>A ENST00000383768.2 + 3 479 c.291T>A c.(289-291)ccT>ccA p.P97P ZCWPW2_ENST00000421010.1_Silent_p.P97P Q504Y3 ZCPW2_HUMAN zinc finger, CW type with PWWP domain 2 97 zinc ion binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2) 17 CACAGCTCCCTCTTGGAAGCC 0.363000 13 131 0 0 1 0 0 SKI 6497 broad.mit.edu 37 1 2235348 2235348 + Silent SNP G G A TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr1:2235348G>A ENST00000378536.4 + 4 1353 c.1281G>A c.(1279-1281)caG>caA p.Q427Q NM_003036.3 NP_003027.1 P12755 SKI_HUMAN v-ski avian sarcoma viral oncogene homolog 427 anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytoplasm|PML body|transcription factor complex|transcriptional repressor complex histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1) 10 all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207) CGGCCCAGCAGAAGGTTGTGA 0.687000 5 22 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151904466 151904466 + Missense_Mutation SNP G G A TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr7:151904466G>A ENST00000355193.2 - 24 3978 c.3760C>T c.(3760-3762)Cgg>Tgg p.R1254W KMT2C_ENST00000262189.6_Missense_Mutation_p.R1254W lysine (K)-specific methyltransferase 2C ACAGCTTCCCGCTCAGGACTA 0.383000 4 72 0 0 1 0 0 CX3CL1 6376 broad.mit.edu 37 16 57416888 57416888 + Missense_Mutation SNP C C A TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr16:57416888C>A ENST00000565912.1 + 2 3730 c.1024C>A c.(1024-1026)Ctt>Att p.L342I CX3CL1_ENST00000563383.1_Missense_Mutation_p.L386I|CX3CL1_ENST00000006053.6_Missense_Mutation_p.L380I P78423 X3CL1_HUMAN chemokine (C-X3-C motif) ligand 1 380 cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response cell surface|extracellular space|integral to membrane|plasma membrane chemokine activity breast(1)|endometrium(1)|large_intestine(1)|lung(2) 5 GGCGGAGGGCCTTCGCTACAT 0.587000 19 103 5.03518e-11 5.62008e-11 1 1 0 OLFML1 283298 broad.mit.edu 37 11 7530749 7530749 + Missense_Mutation SNP G G A TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr11:7530749G>A ENST00000329293.3 + 3 933 c.539G>A c.(538-540)gGa>gAa p.G180E OLFML1_ENST00000530135.1_Missense_Mutation_p.G180E|OLFML1_ENST00000528758.1_3'UTR|CTD-2516F10.2_ENST00000530201.1_RNA NM_198474.3 NP_940876.2 Q6UWY5 OLFL1_HUMAN olfactomedin-like 1 180 Olfactomedin-like. extracellular region breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2) 24 Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194) TTATTAATTGGATCCAGAAAC 0.423000 28 95 0 0 1 0 0 CACNB4 785 broad.mit.edu 37 2 152954850 152954850 + Silent SNP G G C TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr2:152954850G>C ENST00000539935.1 - 2 208 c.141C>G c.(139-141)ctC>ctG p.L47L CACNB4_ENST00000201943.5_Silent_p.L47L|CACNB4_ENST00000427385.1_Silent_p.L29L|AC079790.2_ENST00000420365.1_RNA NM_000726.3|NM_001145798.1 NP_000717.2|NP_001139270.1 O00305 CACB4_HUMAN calcium channel, voltage-dependent, beta 4 subunit 47 axon guidance|membrane depolarization|synaptic transmission cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2) 11 BRCA - Breast invasive adenocarcinoma(221;0.156) Verapamil(DB00661) ATACCTGTCTGAGGATGAAGC 0.677000 5 147 0 0 1 0 0 CNTRL 11064 broad.mit.edu 37 9 123908403 123908403 + Missense_Mutation SNP G G C TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr9:123908403G>C ENST00000373855.1 + 23 3588 c.3328G>C c.(3328-3330)Gaa>Caa p.E1110Q CNTRL_ENST00000373850.1_Missense_Mutation_p.E558Q|CNTRL_ENST00000238341.5_Missense_Mutation_p.E1110Q|CNTRL_ENST00000373847.1_Missense_Mutation_p.E558Q Q7Z7A1 CNTRL_HUMAN centriolin 1110 cell division|G2/M transition of mitotic cell cycle centrosome|cytosol protein binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3) 20 AGGAGGCTTTGAAAATGTTTT 0.338000 10 33 0 0 1 0 0 KCNQ3 3786 broad.mit.edu 37 8 133153535 133153535 + Missense_Mutation SNP G G C TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr8:133153535G>C ENST00000388996.4 - 10 1726 c.1306C>G c.(1306-1308)Cgt>Ggt p.R436G KCNQ3_ENST00000521134.1_Missense_Mutation_p.R316G|KCNQ3_ENST00000519445.1_Missense_Mutation_p.R436G NM_004519.3 NP_004510.1 O43525 KCNQ3_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 3 436 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 70 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) TTGCTACCACGAGGATTAGAA 0.398000 34 70 0 0 1 0 0 VPS13B 157680 broad.mit.edu 37 8 100866145 100866145 + Missense_Mutation SNP G G C TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr8:100866145G>C ENST00000358544.2 + 56 10714 c.10603G>C c.(10603-10605)Gac>Cac p.D3535H VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.D3510H NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 3535 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) ATACGTGGAAGACACATTTGT 0.418000 37 388 0 0 1 0 0 CHN1 1123 broad.mit.edu 37 2 175677211 175677211 + Splice_Site SNP C C G TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr2:175677211C>G ENST00000409900.3 - 9 1026 c.e9-1 CHN1_ENST00000409156.3_Splice_Site|CHN1_ENST00000409597.1_Splice_Site|CHN1_ENST00000295497.7_Splice_Site|CHN1_ENST00000488080.1_Splice_Site NM_001822.5 NP_001813.1 P15882 CHIN_HUMAN chimerin 1 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(117;0.226) AAACCACAATCTAAGAAAAGA 0.368000 T TAF15 extraskeletal myxoid chondrosarcoma 12 48 0 0 1 0 0 PDE1C 5137 broad.mit.edu 37 7 31855619 31855619 + Missense_Mutation SNP C C G TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr7:31855619C>G ENST00000396184.3 - 16 1936 c.1732G>C c.(1732-1734)Gga>Cga p.G578R PDE1C_ENST00000396191.1_Missense_Mutation_p.G578R|PDE1C_ENST00000321453.7_Missense_Mutation_p.G578R|PDE1C_ENST00000396182.2_Missense_Mutation_p.G578R|PDE1C_ENST00000479980.1_5'UTR|PDE1C_ENST00000396193.1_Missense_Mutation_p.G638R NM_005020.2 NP_005011.1 Q14123 PDE1C_HUMAN phosphodiesterase 1C, calmodulin-dependent 70kDa 578 activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) GCCCGTGTTCCATTGACTTGA 0.473000 20 228 0 0 1 0 0 ARHGAP6 395 broad.mit.edu 37 X 11206869 11206869 + Silent SNP C C G TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chrX:11206869C>G ENST00000337414.4 - 4 1928 c.1056G>C c.(1054-1056)ccG>ccC p.P352P ARHGAP6_ENST00000413512.3_Silent_p.P161P|ARHGAP6_ENST00000534860.1_Silent_p.P177P|ARHGAP6_ENST00000380736.1_Silent_p.P149P|ARHGAP6_ENST00000380718.1_Silent_p.P352P|ARHGAP6_ENST00000380732.3_Silent_p.P384P|ARHGAP6_ENST00000303025.6_Silent_p.P149P NM_013427.2 NP_038286.2 O43182 RHG06_HUMAN Rho GTPase activating protein 6 352 actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction actin filament|cytosol phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 CCCGAGGAGCCGGTTCCGGGG 0.468000 19 33 0 0 1 0 0 OPA1 4976 broad.mit.edu 37 3 193382668 193382668 + Splice_Site SNP G G A TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr3:193382668G>A ENST00000361510.2 + 27 2895 c.e27-1 OPA1_ENST00000361150.2_Splice_Site|OPA1_ENST00000361908.3_Splice_Site|OPA1_ENST00000361828.2_Splice_Site|OPA1_ENST00000361715.2_Splice_Site|OPA1_ENST00000392438.3_Splice_Site NM_130837.2 NP_570850.2 O60313 OPA1_HUMAN optic atrophy 1 (autosomal dominant) apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane GTP binding|GTPase activity|magnesium ion binding|protein binding breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 all_cancers(143;9.56e-09)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000162) TCTCATTTTAGATTAAGGATA 0.303000 6 48 0 0 1 0 0 NAP1L1 4673 broad.mit.edu 37 12 76449836 76449836 + Missense_Mutation SNP C C T TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr12:76449836C>T ENST00000261182.8 - 7 1021 c.535G>A c.(535-537)Gac>Aac p.D179N NAP1L1_ENST00000393263.3_Missense_Mutation_p.D179N|NAP1L1_ENST00000535020.2_Missense_Mutation_p.D179N|NAP1L1_ENST00000552342.1_Missense_Mutation_p.D190N|NAP1L1_ENST00000548044.1_Missense_Mutation_p.D138N|NAP1L1_ENST00000549596.1_Missense_Mutation_p.D179N|NAP1L1_ENST00000431879.3_Missense_Mutation_p.D111N|NAP1L1_ENST00000542344.1_Missense_Mutation_p.D137N|NAP1L1_ENST00000547773.1_Missense_Mutation_p.D116N|NAP1L1_ENST00000544816.1_5'UTR|NAP1L1_ENST00000547993.1_5'UTR NM_004537.4|NM_139207.2 NP_004528.1|NP_631946.1 P55209 NP1L1_HUMAN nucleosome assembly protein 1-like 1 179 DNA replication|nucleosome assembly|positive regulation of cell proliferation chromatin assembly complex|melanosome protein binding kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1) 9 Colorectal(145;0.09) CTGAGCAAGTCAACATTCTTA 0.328000 14 57 0 0 1 0 0 ZNF335 63925 broad.mit.edu 37 20 44596466 44596466 + Missense_Mutation SNP C C T TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr20:44596466C>T ENST00000322927.2 - 5 821 c.721G>A c.(721-723)Gtg>Atg p.V241M ZNF335_ENST00000426788.1_Missense_Mutation_p.V86M|ZNF335_ENST00000494955.1_5'UTR NM_022095.3 NP_071378.1 Q9H4Z2 ZN335_HUMAN zinc finger protein 335 241 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Myeloproliferative disorder(115;0.0122) TGCTGCACCACCACCACCTCC 0.667000 39 51 0 0 1 0 0 EHBP1L1 254102 broad.mit.edu 37 11 65349394 65349394 + Missense_Mutation SNP G G C TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr11:65349394G>C ENST00000309295.4 + 9 1516 c.1251G>C c.(1249-1251)gaG>gaC p.E417D NM_001099409.1 NP_001092879.1 Q8N3D4 EH1L1_HUMAN EH domain binding protein 1-like 1 417 central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 AGGCTGAAGAGAGTTCAGCAG 0.567000 9 43 0 0 1 0 0 ZNF733P 643955 broad.mit.edu 37 7 62752443 62752443 + RNA SNP G G C TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr7:62752443G>C ENST00000331425.6 - 0 992 NR_003952.1 CTTATGTCTAGTAAGGTTTGA 0.438000 3 29 0 0 1 0 0 ZFYVE16 9765 broad.mit.edu 37 5 79770487 79770487 + Missense_Mutation SNP C C G TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr5:79770487C>G ENST00000338008.5 + 17 4479 c.4299C>G c.(4297-4299)ttC>ttG p.F1433L ZFYVE16_ENST00000510158.1_Missense_Mutation_p.F1433L|ZFYVE16_ENST00000505560.1_Missense_Mutation_p.F1433L NM_014733.3 NP_055548.3 Q7Z3T8 ZFY16_HUMAN zinc finger, FYVE domain containing 16 1433 BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization early endosome membrane 1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36) TTCAGGTGTTCTACTTTCTAA 0.333000 4 60 0 0 1 0 0 LIMA1 51474 broad.mit.edu 37 12 50616264 50616264 + Missense_Mutation SNP G G A TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr12:50616264G>A ENST00000341247.4 - 4 319 c.170C>T c.(169-171)aCc>aTc p.T57I LIMA1_ENST00000552783.1_5'UTR|LIMA1_ENST00000394943.3_Missense_Mutation_p.T57I|RP3-405J10.4_ENST00000551284.1_RNA NM_001113546.1|NM_016357.4 NP_001107018.1|NP_057441.1 Q9UHB6 LIMA1_HUMAN LIM domain and actin binding 1 57 actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization cytoplasm|focal adhesion|stress fiber actin filament binding|actin monomer binding|zinc ion binding NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2) 44 GAGATTTTCGGTGTTCTAGAA 0.433000 24 87 0 0 1 0 0 CTAGE1 64693 broad.mit.edu 37 18 19996126 19996126 + Missense_Mutation SNP C C G TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr18:19996126C>G ENST00000391403.2 - 1 1752 c.1649G>C c.(1648-1650)aGg>aCg p.R550T NM_172241.2 NP_758441.2 Q96RT6 CTGE2_HUMAN cutaneous T-cell lymphoma-associated antigen 1 550 integral to membrane cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1) 27 all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135) ATCAGTTAACCTATCACAGCT 0.537000 16 115 0 0 1 0 0 NLRP8 126205 broad.mit.edu 37 19 56466571 56466571 + Missense_Mutation SNP G G C TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr19:56466571G>C ENST00000291971.3 + 3 1218 c.1147G>C c.(1147-1149)Gcc>Ccc p.A383P NLRP8_ENST00000590542.1_Missense_Mutation_p.A383P NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 383 NACHT. cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) CTTGAGTTTCGCCATGGAAAA 0.468000 31 99 0 0 1 0 0 VPS45 11311 broad.mit.edu 37 1 150048364 150048364 + Missense_Mutation SNP G G A TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr1:150048364G>A ENST00000369130.3 + 4 889 c.343G>A c.(343-345)Gaa>Aaa p.E115K VPS45_ENST00000535106.1_Missense_Mutation_p.E115K|VPS45_ENST00000369128.5_Missense_Mutation_p.E79K NM_007259.3 NP_009190.2 Q9NRW7 VPS45_HUMAN vacuolar protein sorting 45 homolog (S. cerevisiae) 115 blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis endosome membrane|Golgi membrane|integral to membrane of membrane fraction breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 21 Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) TGAAGCTGATGAACAGGAAGT 0.383000 42 87 0 0 1 0 0 STAT5A 6776 broad.mit.edu 37 17 40461401 40461401 + Silent SNP G G A TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr17:40461401G>A ENST00000345506.4 + 19 2763 c.2121G>A c.(2119-2121)gtG>gtA p.V707V STAT5A_ENST00000546010.2_Silent_p.V677V|STAT5A_ENST00000588868.1_Silent_p.V676V|STAT5A_ENST00000590949.1_Silent_p.V707V|STAT5A_ENST00000452307.2_Silent_p.V704V|STAT5A_ENST00000587646.1_Silent_p.V195V NM_003152.3 NP_003143.2 P42229 STA5A_HUMAN signal transducer and activator of transcription 5A 707 2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process cytosol|nucleoplasm calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 14 all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.128) GCAGGTTTGTGAATGCATCTG 0.617000 6 43 0 0 1 0 0 NFE2L2 4780 broad.mit.edu 37 2 178098960 178098960 + Missense_Mutation SNP C C A TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr2:178098960C>A ENST00000397062.3 - 2 639 c.85G>T c.(85-87)Gat>Tat p.D29Y NFE2L2_ENST00000464747.1_Missense_Mutation_p.D13Y|NFE2L2_ENST00000446151.2_Missense_Mutation_p.D13Y|NFE2L2_ENST00000423513.1_Missense_Mutation_p.D13Y|NFE2L2_ENST00000397063.4_Missense_Mutation_p.D13Y NM_006164.4 NP_006155.2 Q16236 NF2L2_HUMAN nuclear factor, erythroid 2-like 2 29 transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.D29H(11)|p.D29N(2)|p.D29Y(2) central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 158 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) ACTCCAAGATCTATATCTTGC 0.363000 Mis """NSCLC, HNSCC""" HNSCC(56;0.16) 9 34 7.48243e-07 7.98849e-07 1 1 0 LRRC4C 57689 broad.mit.edu 37 11 40136785 40136785 + Missense_Mutation SNP G G A TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr11:40136785G>A ENST00000278198.2 - 2 3021 c.1058C>T c.(1057-1059)gCt>gTt p.A353V LRRC4C_ENST00000527150.1_Missense_Mutation_p.A353V|LRRC4C_ENST00000530763.1_Missense_Mutation_p.A353V|LRRC4C_ENST00000528697.1_Missense_Mutation_p.A353V Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 353 LRRCT. regulation of axonogenesis integral to membrane protein binding NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) AATCACCGGAGCATAGCATGT 0.542000 18 75 0 0 1 0 0 APBB1IP 54518 broad.mit.edu 37 10 26802572 26802572 + Missense_Mutation SNP G G T TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr10:26802572G>T ENST00000376236.4 + 8 1251 c.796G>T c.(796-798)Gta>Tta p.V266L NM_019043.3 NP_061916.3 Q7Z5R6 AB1IP_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein 266 blood coagulation|signal transduction cytoskeleton|cytosol|focal adhesion|lamellipodium central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1) 45 GAAATATGCTGTATTTAAAAA 0.333000 13 88 5.50884e-06 5.76992e-06 1 1 0 OR14A16 284532 broad.mit.edu 37 1 247978594 247978594 + Silent SNP A A T TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr1:247978594A>T ENST00000357627.1 - 1 437 c.438T>A c.(436-438)tcT>tcA p.S146S NM_001001966.1 NP_001001966.1 Q8NHC5 O14AG_HUMAN olfactory receptor, family 14, subfamily A, member 16 146 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1) 45 CATACAGCCAAGACACAGTGG 0.502000 12 179 0 0 1 0 0 SLC25A22 79751 broad.mit.edu 37 11 792392 792392 + Silent SNP C C T TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr11:792392C>T ENST00000320230.5 - 8 1135 c.654G>A c.(652-654)gcG>gcA p.A218A SLC25A22_ENST00000531214.1_Silent_p.A218A NM_001191061.1|NM_024698.5 NP_001177990.1|NP_078974.1 Q9H936 GHC1_HUMAN solute carrier family 25 (mitochondrial carrier: glutamate), member 22 218 integral to membrane|mitochondrial inner membrane|nucleus L-glutamate transmembrane transporter activity|protein binding|symporter activity endometrium(1)|kidney(1)|lung(2)|urinary_tract(1) 5 all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) L-Glutamic Acid(DB00142) TCTCCTCGGACGCCGGGCGGC 0.657000 46 189 0 0 1 0 0 WDR92 116143 broad.mit.edu 37 2 68358543 68358543 + Missense_Mutation SNP C C T TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr2:68358543C>T ENST00000295121.6 - 8 1017 c.901G>A c.(901-903)Gag>Aag p.E301K WDR92_ENST00000492039.2_5'UTR NM_138458.3 NP_612467.1 Q96MX6 WDR92_HUMAN WD repeat domain 92 301 apoptosis|histone lysine methylation methylated histone residue binding endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|stomach(1) 12 TCTATTCCCTCAGAATCTTTC 0.393000 6 92 0 0 1 0 0 NBEA 26960 broad.mit.edu 37 13 35747697 35747697 + Missense_Mutation SNP T T C TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr13:35747697T>C ENST00000540320.1 + 27 5054 c.4520T>C c.(4519-4521)gTt>gCt p.V1507A NBEA_ENST00000379939.2_Missense_Mutation_p.V1504A|NBEA_ENST00000310336.4_Missense_Mutation_p.V1507A|NBEA_ENST00000400445.3_Missense_Mutation_p.V1507A Q8NFP9 NBEA_HUMAN neurobeachin 1507 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) CCTCAGGAAGTTCCTCAAAGT 0.373000 7 54 0 0 1 0 0 ADAM32 203102 broad.mit.edu 37 8 39114738 39114738 + Missense_Mutation SNP G G A TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr8:39114738G>A ENST00000379907.4 + 19 2165 c.2038G>A c.(2038-2040)Gaa>Aaa p.E680K ADAM32_ENST00000437682.2_Missense_Mutation_p.E581K|ADAM32_ENST00000519315.1_Missense_Mutation_p.E574K NM_145004.5 NP_659441.3 Q8TC27 ADA32_HUMAN ADAM metallopeptidase domain 32 680 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2) 31 all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503) LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146) TGGGAAGACTGAAAACACCTG 0.343000 5 51 0 0 1 0 0 XRN1 54464 broad.mit.edu 37 3 142089455 142089455 + Missense_Mutation SNP T T G TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr3:142089455T>G ENST00000264951.4 - 27 3193 c.3076A>C c.(3076-3078)Aaa>Caa p.K1026Q XRN1_ENST00000392981.2_Missense_Mutation_p.K1026Q NM_019001.3 NP_061874.3 Q8IZH2 XRN1_HUMAN 5'-3' exoribonuclease 1 1026 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane 5'-3' exonuclease activity|DNA binding|protein binding|RNA binding NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 61 TCTTGAACTTTTTCAGCACTA 0.269000 4 35 0 0 1 0 0 C20orf195 79025 broad.mit.edu 37 20 62187169 62187169 + Silent SNP C C T TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr20:62187169C>T ENST00000370098.3 + 2 245 c.153C>T c.(151-153)ttC>ttT p.F51F C20orf195_ENST00000370097.1_Silent_p.F51F NM_024059.2 NP_076964.1 Q9BVV2 CT195_HUMAN chromosome 20 open reading frame 195 51 large_intestine(3)|lung(4) 7 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06) TGCGTGAGTTCCTGACCTCGG 0.637000 21 54 0 0 1 0 0 UGT8 7368 broad.mit.edu 37 4 115544355 115544355 + Silent SNP C C T rs137983750 TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr4:115544355C>T ENST00000310836.6 + 2 841 c.319C>T c.(319-321)Ctg>Ttg p.L107L UGT8_ENST00000394511.3_Silent_p.L107L NM_001128174.1 NP_001121646.1 Q16880 CGT_HUMAN UDP glycosyltransferase 8 107 central nervous system development|peripheral nervous system development integral to membrane 2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 31 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000632) GTTTGACATACTGGATCACTA 0.458000 4 112 0 0 1 0 0 UCHL5 51377 broad.mit.edu 37 1 193028340 193028340 + Silent SNP G G C TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr1:193028340G>C ENST00000367455.3 - 1 286 c.51C>G c.(49-51)gtC>gtG p.V17V UCHL5_ENST00000367452.4_Intron|UCHL5_ENST00000367448.1_Silent_p.V17V|UCHL5_ENST00000367451.4_Silent_p.V17V|UCHL5_ENST00000483156.1_5'UTR|UCHL5_ENST00000367449.1_Silent_p.V17V|UCHL5_ENST00000530098.2_5'UTR|UCHL5_ENST00000367454.1_Silent_p.V17V NM_015984.3 NP_057068.1 Q9Y5K5 UCHL5_HUMAN ubiquitin carboxyl-terminal hydrolase L5 17 DNA recombination|DNA repair|protein deubiquitination|regulation of proteasomal protein catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytosol|Ino80 complex|proteasome complex endopeptidase inhibitor activity|omega peptidase activity|proteasome binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(1)|lung(9)|ovary(1) 19 GCTCGGTGAAGACCCCGGGGT 0.662000 7 36 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34204889 34204889 + Silent SNP G G T TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr1:34204889G>T ENST00000373381.4 - 15 2396 c.2220C>A c.(2218-2220)ggC>ggA p.G740G NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 700 Sushi 4. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) CAAACCGTTTGCCATTTACTG 0.547000 18 77 2.94398e-08 3.23692e-08 1 1 0 XRN1 54464 broad.mit.edu 37 3 142078708 142078708 + Missense_Mutation SNP T T C TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr3:142078708T>C ENST00000264951.4 - 30 3577 c.3460A>G c.(3460-3462)Ata>Gta p.I1154V XRN1_ENST00000392981.2_Missense_Mutation_p.I1154V NM_019001.3 NP_061874.3 Q8IZH2 XRN1_HUMAN 5'-3' exoribonuclease 1 1154 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane 5'-3' exonuclease activity|DNA binding|protein binding|RNA binding NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 61 ACAAACCTTATTGTTAACCCT 0.328000 5 43 0 0 1 0 0 TSPAN10 83882 broad.mit.edu 37 17 79612378 79612378 + RNA SNP G G A TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr17:79612378G>A ENST00000328585.4 + 0 487 TSPAN10_ENST00000572675.1_RNA NM_031945.3 NP_114151.3 Q9H1Z9 TSN10_HUMAN tetraspanin 10 integral to membrane ovary(1) 1 all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739) GGTGGTCAGCGCAGTGAGCCT 0.672000 4 12 0 0 1 0 0 FCRL5 83416 broad.mit.edu 37 1 157514217 157514217 + Missense_Mutation SNP G G A TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr1:157514217G>A ENST00000361835.3 - 5 836 c.679C>T c.(679-681)Cgc>Tgc p.R227C FCRL5_ENST00000368189.3_Missense_Mutation_p.R227C|FCRL5_ENST00000368190.3_Missense_Mutation_p.R227C|FCRL5_ENST00000368191.3_Missense_Mutation_p.R142C|FCRL5_ENST00000356953.4_Missense_Mutation_p.R227C NM_001195388.1|NM_031281.2 NP_001182317.1|NP_112571.2 Q96RD9 FCRL5_HUMAN Fc receptor-like 5 227 Ig-like C2-type 2. integral to membrane|plasma membrane receptor activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 85 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) CTGAAGAAGCGGAACCGGAGC 0.562000 43 229 0 0 1 0 0 EHBP1L1 254102 broad.mit.edu 37 11 65350805 65350805 + Nonsense_Mutation SNP G G T TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr11:65350805G>T ENST00000309295.4 + 9 2927 c.2662G>T c.(2662-2664)Gaa>Taa p.E888* NM_001099409.1 NP_001092879.1 Q8N3D4 EH1L1_HUMAN EH domain binding protein 1-like 1 888 Glu-rich. central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 GGGGGTCCAGGAAGCAGAGAC 0.517000 7 51 0.0477658 0.048202 1 1 0 NFAT5 10725 broad.mit.edu 37 16 69727125 69727125 + Missense_Mutation SNP C C G TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr16:69727125C>G ENST00000349945.1 + 14 4667 c.3115C>G c.(3115-3117)Cca>Gca p.P1039A NFAT5_ENST00000567239.1_Missense_Mutation_p.P1132A|NFAT5_ENST00000566899.1_Missense_Mutation_p.P1039A|NFAT5_ENST00000354436.2_Missense_Mutation_p.P1115A|NFAT5_ENST00000432919.1_Missense_Mutation_p.P1133A|NFAT5_ENST00000393742.2_Missense_Mutation_p.P1039A NM_138714.3 NP_619728.2 O94916 NFAT5_HUMAN nuclear factor of activated T-cells 5, tonicity-responsive 1115 excretion|signal transduction|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 AATGCAGCCTCCAATGTTTCA 0.443000 25 191 0 0 1 0 0 TAS2R1 50834 broad.mit.edu 37 5 9630065 9630065 + Missense_Mutation SNP A A T TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr5:9630065A>T ENST00000382492.2 - 1 398 c.80T>A c.(79-81)aTt>aAt p.I27N CTD-2001E22.1_ENST00000504182.2_RNA NM_019599.2 NP_062545.1 Q9NYW7 TA2R1_HUMAN taste receptor, type 2, member 1 27 chemosensory behavior|sensory perception of taste integral to membrane taste receptor activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1) 39 CACCACCACAATGATGCCATT 0.368000 15 51 0 0 1 0 0 CAND2 23066 broad.mit.edu 37 3 12861601 12861601 + Silent SNP G G A TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr3:12861601G>A ENST00000456430.2 + 11 3002 c.2961G>A c.(2959-2961)cgG>cgA p.R987R CAND2_ENST00000295989.5_Silent_p.R894R NM_001162499.1 NP_001155971.1 O75155 CAND2_HUMAN cullin-associated and neddylation-dissociated 2 (putative) 987 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 CACACACCCGGAGCACCGTCA 0.597000 22 75 0 0 1 0 0 CCDC176 80127 broad.mit.edu 37 14 74522295 74522295 + Missense_Mutation SNP T T C TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr14:74522295T>C ENST00000394009.3 + 9 1418 c.1295T>C c.(1294-1296)aTt>aCt p.I432T CCDC176_ENST00000553773.1_Missense_Mutation_p.I157T|CCDC176_ENST00000492247.2_5'UTR|AC005484.5_ENST00000492026.1_RNA NM_025057.2 NP_079333.2 coiled-coil domain containing 176 AGGACACATATTGAAGGAAAT 0.333000 11 67 0 0 1 0 0 TTC21A 199223 broad.mit.edu 37 3 39156139 39156139 + Missense_Mutation SNP G G A TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr3:39156139G>A ENST00000301819.6 + 6 799 c.622G>A c.(622-624)Gtg>Atg p.V208M TTC21A_ENST00000431162.2_Missense_Mutation_p.V208M|TTC21A_ENST00000440121.1_Missense_Mutation_p.V167M NM_145755.2 NP_665698.2 Q8NDW8 TT21A_HUMAN tetratricopeptide repeat domain 21A 208 binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3) 50 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) CCAGATCACTGTGACTTCAGG 0.557000 53 93 0 0 1 0 0 CASR 846 broad.mit.edu 37 3 122003928 122003928 + Missense_Mutation SNP G G A TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr3:122003928G>A ENST00000498619.1 + 7 3595 c.3157G>A c.(3157-3159)Gag>Aag p.E1053K CASR_ENST00000490131.1_Missense_Mutation_p.E1043K|CASR_ENST00000296154.5_Missense_Mutation_p.E1043K NM_001178065.1 NP_001171536.1 P41180 CASR_HUMAN calcium-sensing receptor 1043 anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) CCAGCGGCCAGAGGTGGAGGA 0.557000 17 127 0 0 1 0 0 MRPL50 54534 broad.mit.edu 37 9 104152981 104152981 + Missense_Mutation SNP G G C TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr9:104152981G>C ENST00000374865.4 - 2 265 c.244C>G c.(244-246)Ctt>Gtt p.L82V MRPL50_ENST00000539624.1_Missense_Mutation_p.L82V NM_019051.2 NP_061924.1 Q8N5N7 RM50_HUMAN mitochondrial ribosomal protein L50 82 mitochondrion|ribosome large_intestine(1)|lung(2)|prostate(2) 5 Acute lymphoblastic leukemia(62;0.0559) TTACTAGGAAGAGATGAACCA 0.433000 17 86 0 0 1 0 0 FBN2 2201 broad.mit.edu 37 5 127873057 127873057 + Silent SNP C C T TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr5:127873057C>T ENST00000508053.1 - 7 1214 c.240G>A c.(238-240)caG>caA p.Q80Q FBN2_ENST00000508989.1_Silent_p.Q80Q|FBN2_ENST00000262464.4_Silent_p.Q80Q P35556 FBN2_HUMAN fibrillin 2 80 bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) GGAGCACGTCCTGCTGTCCTC 0.682000 6 14 0 0 1 0 0 HEPH 9843 broad.mit.edu 37 X 65390540 65390540 + Missense_Mutation SNP G G A TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chrX:65390540G>A ENST00000519389.1 + 2 469 c.290G>A c.(289-291)gGa>gAa p.G97E HEPH_ENST00000419594.1_Missense_Mutation_p.G46E|HEPH_ENST00000336279.5_Intron|HEPH_ENST00000441993.2_Missense_Mutation_p.G46E|HEPH_ENST00000374727.3_Missense_Mutation_p.G46E|HEPH_ENST00000343002.2_Missense_Mutation_p.G43E Q9BQS7 HEPH_HUMAN hephaestin 43 Plastocyanin-like 1. cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 GCTCCCAAGGGAAGAAATGTC 0.502000 11 19 0 0 1 0 0 IL1B 3553 broad.mit.edu 37 2 113591057 113591057 + Silent SNP C C T TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr2:113591057C>T ENST00000263341.2 - 4 405 c.195G>A c.(193-195)gcG>gcA p.A65A IL1B_ENST00000491056.1_5'UTR NM_000576.2 NP_000567.1 P01584 IL1B_HUMAN interleukin 1, beta 65 activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation cytosol|extracellular space cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8) 12 Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366) CAACAACTGACGCGGCCTGCC 0.582000 28 143 0 0 1 0 0 PCMTD2 55251 broad.mit.edu 37 20 62891516 62891516 + Silent SNP G G A TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr20:62891516G>A ENST00000308824.6 + 2 325 c.198G>A c.(196-198)ccG>ccA p.P66P PCMTD2_ENST00000369758.3_Silent_p.P66P|PCMTD2_ENST00000299468.7_Silent_p.P66P NM_018257.2 NP_060727.2 Q9NV79 PCMD2_HUMAN protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2 66 cytoplasm protein-L-isoaspartate (D-aspartate) O-methyltransferase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1) 17 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) TCTCAGCCCCGTGCATCTACT 0.493000 77 81 0 0 1 0 0 C10orf11 83938 broad.mit.edu 37 10 77807015 77807015 + Missense_Mutation SNP G G A TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr10:77807015G>A ENST00000372499.1 + 3 483 c.268G>A c.(268-270)Gag>Aag p.E90K C10orf11_ENST00000593699.1_3'UTR NM_032024.3 NP_114413.1 Q9H2I8 CJ011_HUMAN chromosome 10 open reading frame 11 90 endometrium(1)|large_intestine(4)|lung(4)|stomach(1) 10 Prostate(51;0.0095)|all_epithelial(25;0.0221) CTGTCCCAACGAGCTGGTCAG 0.507000 4 61 0 0 1 0 0 LAMA5 3911 broad.mit.edu 37 20 60913316 60913316 + Silent SNP G G A TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr20:60913316G>A ENST00000252999.3 - 13 1794 c.1728C>T c.(1726-1728)ccC>ccT p.P576P NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 576 Laminin EGF-like 5. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GAAAGTAGCCGGGGGCACAGC 0.672000 5 18 0 0 1 0 0 OR5I1 10798 broad.mit.edu 37 11 55703134 55703134 + Missense_Mutation SNP G G T TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr11:55703134G>T ENST00000301532.3 - 1 742 c.743C>A c.(742-744)aCt>aAt p.T248N NM_006637.1 NP_006628.1 Q13606 OR5I1_HUMAN olfactory receptor, family 5, subfamily I, member 1 248 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 CGTCACTGAAGTCAGGTGAGA 0.433000 4 33 0.00909568 0.00922085 1 1 0 DYNC2H1 79659 broad.mit.edu 37 11 103070182 103070182 + Nonsense_Mutation SNP C C T TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr11:103070182C>T ENST00000375735.2 + 49 8209 c.8065C>T c.(8065-8067)Cag>Tag p.Q2689* DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Nonsense_Mutation_p.Q2689* NM_001080463.1|NM_001377.2 NP_001073932.1|NP_001368.2 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 2689 AAA 4 (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) TGAACTGAAGCAGTTCAAAAA 0.393000 3 15 0 0 1 0 0 RASGEF1B 153020 broad.mit.edu 37 4 82366922 82366922 + Missense_Mutation SNP T T C TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr4:82366922T>C ENST00000509081.1 - 7 1018 c.797A>G c.(796-798)tAc>tGc p.Y266C RASGEF1B_ENST00000264400.2_Missense_Mutation_p.Y267C|RASGEF1B_ENST00000335927.7_Missense_Mutation_p.Y225C Q0VAM2 RGF1B_HUMAN RasGEF domain family, member 1B 267 Ras-GEF. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1) 26 AGCAACCAAGTAGCTGAGGCG 0.368000 10 44 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77617976 77617976 + Missense_Mutation SNP C C G TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr8:77617976C>G ENST00000521891.2 + 2 2101 c.1653C>G c.(1651-1653)aaC>aaG p.N551K ZFHX4_ENST00000518282.1_Missense_Mutation_p.N551K|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Missense_Mutation_p.N551K|ZFHX4_ENST00000455469.2_Missense_Mutation_p.N551K NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 551 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) TTGCTAGTAACTATGGCATCA 0.502000 HNSCC(33;0.089) 27 33 0 0 1 0 0 THAP7 80764 broad.mit.edu 37 22 21355551 21355551 + Missense_Mutation SNP C C T TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr22:21355551C>T ENST00000215742.4 - 2 404 c.230G>A c.(229-231)gGa>gAa p.G77E THAP7_ENST00000399133.2_Missense_Mutation_p.G77E NM_030573.2 NP_085050.2 Q9BT49 THAP7_HUMAN THAP domain containing 7 77 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck C2H2 zinc finger domain binding|DNA binding|metal ion binding|protein N-terminus binding cervix(1)|lung(2)|prostate(3)|skin(1)|stomach(1) 8 all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) CCACCTGATTCCCACCAGCTC 0.652000 44 555 0 0 1 0 0 EAF2 55840 broad.mit.edu 37 3 121554181 121554181 + Missense_Mutation SNP C C G TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr3:121554181C>G ENST00000273668.2 + 1 120 c.49C>G c.(49-51)Ctc>Gtc p.L17V EAF2_ENST00000451944.2_Missense_Mutation_p.L17V|EAF2_ENST00000465664.1_3'UTR NM_018456.4 NP_060926.2 Q96CJ1 EAF2_HUMAN ELL associated factor 2 17 Necessary for interaction with ELL. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck protein binding endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1) 9 GBM - Glioblastoma multiforme(114;0.0972) CGAGCGGGTTCTCAAGTTAGG 0.587000 10 86 0 0 1 0 0 CHD7 55636 broad.mit.edu 37 8 61654293 61654293 + Missense_Mutation SNP C C T TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr8:61654293C>T ENST00000423902.2 + 2 781 c.302C>T c.(301-303)cCg>cTg p.P101L CHD7_ENST00000525508.1_Missense_Mutation_p.P101L|CHD7_ENST00000524602.1_Missense_Mutation_p.P101L NM_017780.3 NP_060250.2 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 101 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) CTCGCGTCTCCGCACTCGCAG 0.532000 11 35 0 0 1 0 0 PDGFRA 5156 broad.mit.edu 37 4 55138567 55138567 + Missense_Mutation SNP C C T TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr4:55138567C>T ENST00000257290.5 + 9 1575 c.1244C>T c.(1243-1245)tCa>tTa p.S415L FIP1L1_ENST00000507166.1_Intron NM_006206.4 NP_006197.1 P16234 PGFRA_HUMAN platelet-derived growth factor receptor, alpha polypeptide 415 Ig-like C2-type 5. cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1) 967 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) GCAGTTCCTTCATCCATTCTG 0.483000 """Mis, O, T""" FIP1L1 """GIST, idiopathic hypereosinophilic syndrome, paediatric GBM""" Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis TSP Lung(21;0.16) 9 122 0 0 1 0 0 ST3GAL6 10402 broad.mit.edu 37 3 98507004 98507004 + Missense_Mutation SNP C C T TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr3:98507004C>T ENST00000265261.6 + 7 624 c.202C>T c.(202-204)Ctc>Ttc p.L68F ST3GAL6_ENST00000394162.1_Missense_Mutation_p.L186F|ST3GAL6_ENST00000483910.1_Missense_Mutation_p.L186F|ST3GAL6_ENST00000462152.1_3'UTR NM_001271147.1 NP_001258076.1 Q9Y274 SIA10_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 6 186 amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation integral to Golgi membrane sialyltransferase activity breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1) 19 GACAGTGATTCTCACTGCTTT 0.383000 12 36 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578263 7578263 + Nonsense_Mutation SNP G G A TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr17:7578263G>A ENST00000420246.2 - 6 718 c.586C>T c.(586-588)Cga>Tga p.R196* TP53_ENST00000269305.4_Nonsense_Mutation_p.R196*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R196* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 196 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CCTTCCACTCGGATAAGATGC 0.552000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 25 41 0 0 1 0 0 PAQR6 79957 broad.mit.edu 37 1 156213684 156213684 + Missense_Mutation SNP G G C TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr1:156213684G>C ENST00000335852.1 - 7 1639 c.1024C>G c.(1024-1026)Ctg>Gtg p.L342V PAQR6_ENST00000368270.1_3'UTR|PAQR6_ENST00000292291.5_3'UTR|PAQR6_ENST00000492619.1_5'UTR|PAQR6_ENST00000356983.2_Missense_Mutation_p.L342V|PAQR6_ENST00000360733.2_Missense_Mutation_p.L342V NM_024897.2 NP_079173.2 Q6TCH4 PAQR6_HUMAN progestin and adipoQ receptor family member VI 0 integral to membrane receptor activity lung(4)|ovary(1) 5 Hepatocellular(266;0.158) TCCCCTCTCAGACCCTCAGCA 0.587000 97 492 0 0 1 0 0 ZC3H4 23211 broad.mit.edu 37 19 47570716 47570716 + Missense_Mutation SNP C C T TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr19:47570716C>T ENST00000253048.5 - 15 2846 c.2809G>A c.(2809-2811)Gtg>Atg p.V937M ZC3H4_ENST00000594019.1_Intron NM_015168.1 NP_055983.1 Q9UPT8 ZC3H4_HUMAN zinc finger CCCH-type containing 4 937 nucleic acid binding|zinc ion binding NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 41 all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889) OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372) GGAATGTTCACGGCCTTCTCC 0.667000 50 174 0 0 1 0 0 HIST1H2BA 255626 broad.mit.edu 37 6 25727227 25727227 + Missense_Mutation SNP C C T TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr6:25727227C>T ENST00000274764.2 + 1 91 c.91C>T c.(91-93)Cgc>Tgc p.R31C NM_170610.2 NP_733759.1 Q96A08 H2B1A_HUMAN histone cluster 1, H2ba 31 nucleosome assembly nucleosome|nucleus DNA binding breast(1)|kidney(1) 2 AGGCAAAAAGCGCAAGAGGAC 0.448000 19 91 0 0 1 0 0 ENTPD2 954 broad.mit.edu 37 9 139944405 139944405 + Missense_Mutation SNP G G A TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr9:139944405G>A ENST00000355097.2 - 7 1113 c.1066C>T c.(1066-1068)Cgg>Tgg p.R356W ENTPD2_ENST00000312665.5_Missense_Mutation_p.R356W NM_001246.3|NM_203468.2 NP_001237.1|NP_982293.1 Q9Y5L3 ENTP2_HUMAN ectonucleoside triphosphate diphosphohydrolase 2 356 integral to membrane ATP binding endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3) 12 all_cancers(76;0.0926) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) ATCGAAGTCCGCAAAAAGTCC 0.647000 OREG0019627 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 110 0 0 1 0 0 ABCB9 23457 broad.mit.edu 37 12 123434446 123434446 + Missense_Mutation SNP G G A TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr12:123434446G>A ENST00000542678.1 - 4 3574 c.736C>T c.(736-738)Cgg>Tgg p.R246W ABCB9_ENST00000540285.1_Missense_Mutation_p.R246W|ABCB9_ENST00000280560.8_Missense_Mutation_p.R246W|ABCB9_ENST00000442028.2_Missense_Mutation_p.R246W|ABCB9_ENST00000344275.7_Missense_Mutation_p.R246W|ABCB9_ENST00000442833.2_Missense_Mutation_p.R246W|ABCB9_ENST00000346530.5_Missense_Mutation_p.R246W|ABCB9_ENST00000392439.3_Missense_Mutation_p.R246W Q9NP78 ABCB9_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 9 246 ABC transmembrane type-1. positive regulation of T cell mediated cytotoxicity|protein transport lysosomal membrane|plasma membrane|TAP complex ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding p.R246W(1) central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1) 18 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111) ATGCCGCCCCGAATACCTGCG 0.527000 4 184 0 0 1 0 0 OR2G2 81470 broad.mit.edu 37 1 247751914 247751914 + Missense_Mutation SNP C C A TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr1:247751914C>A ENST00000320065.1 + 1 253 c.253C>A c.(253-255)Ctg>Atg p.L85M RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA NM_001001915.1 NP_001001915.1 Q8NGZ5 OR2G2_HUMAN olfactory receptor, family 2, subfamily G, member 2 85 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) TCCCCAGCTCCTGGTAAACCT 0.512000 10 171 4.68919e-08 5.13025e-08 1 1 0 EHBP1L1 254102 broad.mit.edu 37 11 65347886 65347886 + Silent SNP G G A TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr11:65347886G>A ENST00000309295.4 + 6 835 c.570G>A c.(568-570)gaG>gaA p.E190E NM_001099409.1 NP_001092879.1 Q8N3D4 EH1L1_HUMAN EH domain binding protein 1-like 1 190 central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 ACTTTGCTGAGAGTGATGAAG 0.592000 20 77 0 0 1 0 0 PDE2A 5138 broad.mit.edu 37 11 72296444 72296444 + Silent SNP C C T TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr11:72296444C>T ENST00000334456.5 - 16 1502 c.1257G>A c.(1255-1257)acG>acA p.T419T PDE2A_ENST00000444035.2_Silent_p.T410T|PDE2A_ENST00000418754.2_Silent_p.T304T|PDE2A_ENST00000376450.3_Silent_p.T163T|PDE2A_ENST00000540345.1_Silent_p.T410T|RP11-169D4.2_ENST00000545254.1_RNA|PDE2A_ENST00000544570.1_Silent_p.T412T NM_002599.4 NP_002590.1 O00408 PDE2A_HUMAN phosphodiesterase 2A, cGMP-stimulated 419 GAF 2. platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 36 BRCA - Breast invasive adenocarcinoma(5;3.55e-05) Sildenafil(DB00203)|Sulindac(DB00605) TTCTGGCCTCCGTGATGATCT 0.602000 OREG0021196 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 84 0 0 1 0 0 HSPA6 3310 broad.mit.edu 37 1 161495172 161495172 + Missense_Mutation SNP C C T TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr1:161495172C>T ENST00000309758.4 + 1 1137 c.724C>T c.(724-726)Cac>Tac p.H242Y NM_002155.3 NP_002146.2 P17066 HSP76_HUMAN heat shock 70kDa protein 6 (HSP70B') 242 response to unfolded protein ATP binding endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2) 21 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) GCTCGTGAACCACTTCATGGA 0.602000 13 33 0 0 1 0 0 MYOM1 8736 broad.mit.edu 37 18 3188826 3188826 + Missense_Mutation SNP G G C TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr18:3188826G>C ENST00000356443.4 - 4 1024 c.691C>G c.(691-693)Caa>Gaa p.Q231E MYOM1_ENST00000400569.3_Missense_Mutation_p.Q231E|MYOM1_ENST00000261606.7_Missense_Mutation_p.Q231E NM_003803.3|NM_019856.1 NP_003794.3|NP_062830.1 P52179 MYOM1_HUMAN myomesin 1 231 striated muscle myosin thick filament structural constituent of muscle NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 TCTTCCTGTTGAAGAGCGGAT 0.493000 20 48 0 0 1 0 0 KLRC3 3823 broad.mit.edu 37 12 10572189 10572189 + Missense_Mutation SNP A A C TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr12:10572189A>C ENST00000381904.2 - 3 289 c.290T>G c.(289-291)cTg>cGg p.L97R KLRC3_ENST00000396439.2_Intron|KLRC3_ENST00000381903.2_Intron|NKG2-E_ENST00000539033.1_Intron killer cell lectin-like receptor subfamily C, member 3 large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 11 GTTCTGCTCCAGGACTGTAAT 0.254000 5 37 0 0 1 0 0 SDHAP1 255812 broad.mit.edu 37 3 195711466 195711466 + RNA SNP G G T TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr3:195711466G>T ENST00000427841.1 - 0 481 NR_003264.2 GCCCATCACCGCGACCATGGC 0.582000 4 59 0.00116845 0.00119549 1 1 0 SLC34A3 142680 broad.mit.edu 37 9 140128975 140128975 + Missense_Mutation SNP C C T TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr9:140128975C>T ENST00000538474.1 + 11 1425 c.1201C>T c.(1201-1203)Ccc>Tcc p.P401S SLC34A3_ENST00000361134.2_Missense_Mutation_p.P401S NM_001177316.1|NM_001177317.1 NP_001170787.1|NP_001170788.1 Q8N130 NPT2C_HUMAN solute carrier family 34 (type II sodium/phosphate contransporter), member 3 401 cellular phosphate ion homeostasis apical plasma membrane|integral to membrane sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057) GGCCGTCGTGCCCCTCATGGG 0.716000 18 31 0 0 1 0 0 TRIO 7204 broad.mit.edu 37 5 14304622 14304622 + Missense_Mutation SNP C C T TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr5:14304622C>T ENST00000344204.4 + 8 1445 c.1421C>T c.(1420-1422)cCc>cTc p.P474L TRIO_ENST00000537187.1_Missense_Mutation_p.P474L|TRIO_ENST00000509967.2_Missense_Mutation_p.P425L NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor 474 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) GTAGACCTTCCCTCAGAGCTG 0.393000 24 96 0 0 1 0 0 MT1L 4500 broad.mit.edu 37 16 56652578 56652578 + RNA SNP A A G TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr16:56652578A>G ENST00000565768.1 + 0 259 NR_001447.2 metallothionein 1L (gene/pseudogene) GGAGAAGTGCAGCTGCTGTGC 0.567000 4 192 0 0 1 0 0 PDZD2 23037 broad.mit.edu 37 5 32088217 32088217 + Missense_Mutation SNP G G A TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr5:32088217G>A ENST00000438447.1 + 20 5051 c.4663G>A c.(4663-4665)Gct>Act p.A1555T PDZD2_ENST00000282493.3_Missense_Mutation_p.A1555T O15018 PDZD2_HUMAN PDZ domain containing 2 1555 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 GTATGGCGATGCTGAGGATTC 0.537000 27 75 0 0 1 0 0 PLXNA3 55558 broad.mit.edu 37 X 153697014 153697014 + Missense_Mutation SNP C C T TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chrX:153697014C>T ENST00000369682.3 + 24 4404 c.4229C>T c.(4228-4230)tCa>tTa p.S1410L NM_017514.3 NP_059984.2 P51805 PLXA3_HUMAN plexin A3 1410 axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 48 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) AGGACAGAGTCAGTGGCTGAG 0.627000 12 48 0 0 1 0 0 NAGA 4668 broad.mit.edu 37 22 42457071 42457071 + Splice_Site SNP C C T TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr22:42457071C>T ENST00000396398.3 - 8 1490 c.957_splice c.e8-1 p.E320_splice NAGA_ENST00000402937.1_Splice_Site_p.E320_splice|NAGA_ENST00000403363.1_Splice_Site_p.E320_splice NM_000262.2 NP_000253.1 P17050 NAGAB_HUMAN N-acetylgalactosaminidase, alpha- 320 glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process lysosome alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1) 11 AGAGATTTTTCCTGGGCACAG 0.567000 11 37 0 0 1 0 0 KCNA6 3742 broad.mit.edu 37 12 4920199 4920199 + Missense_Mutation SNP A A G TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr12:4920199A>G ENST00000433855.1 + 1 1858 c.992A>G c.(991-993)aAt>aGt p.N331S KCNA6_ENST00000280684.3_Missense_Mutation_p.N331S NM_002235.3 NP_002226.1 P17658 KCNA6_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 6 331 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5) 49 GGCGGCCAGAATGGGCAGCAG 0.617000 HNSCC(72;0.22) 15 71 0 0 1 0 0 DNM1P47 100216544 broad.mit.edu 37 15 102304740 102304740 + RNA SNP G G A rs7169420 by1000genomes TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr15:102304740G>A ENST00000561463.1 + 0 12786 GAAGACACTCGTGGAGGAGTC 0.612000 3 19 0 0 1 0 0 SALL3 27164 broad.mit.edu 37 18 76753377 76753377 + Silent SNP C C T TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr18:76753377C>T ENST00000536229.3 + 1 1696 c.987C>T c.(985-987)aaC>aaT p.N329N SALL3_ENST00000575389.2_Silent_p.N462N|SALL3_ENST00000537592.2_Silent_p.N462N Q9BXA9 SALL3_HUMAN spalt-like transcription factor 3 462 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) CCAAAGGCAACCTGAAGGTGC 0.622000 8 26 0 0 1 0 0 STRA8 346673 broad.mit.edu 37 7 134927560 134927560 + Missense_Mutation SNP C C T TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr7:134927560C>T ENST00000275764.3 + 3 286 c.286C>T c.(286-288)Cat>Tat p.H96Y NM_182489.1 NP_872295.1 Q7Z7C7 STRA8_HUMAN stimulated by retinoic acid 8 96 DNA replication|regulation of transcription, DNA-dependent cytoplasm|nucleus p.H96N(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(1) 16 GGCAAAGAGTCATATTCCAGA 0.483000 24 85 0 0 1 0 0 EHBP1L1 254102 broad.mit.edu 37 11 65349278 65349278 + Missense_Mutation SNP G G A TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr11:65349278G>A ENST00000309295.4 + 9 1400 c.1135G>A c.(1135-1137)Gaa>Aaa p.E379K NM_001099409.1 NP_001092879.1 Q8N3D4 EH1L1_HUMAN EH domain binding protein 1-like 1 379 central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 ACTCAAGGCTGAAGAGATGGA 0.572000 11 29 0 0 1 0 0 DCC 1630 broad.mit.edu 37 18 51013227 51013227 + Missense_Mutation SNP C C T TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr18:51013227C>T ENST00000442544.2 + 26 4413 c.3797C>T c.(3796-3798)cCg>cTg p.P1266L DCC_ENST00000581580.1_Missense_Mutation_p.P901L|RP11-671P2.1_ENST00000582064.1_RNA NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 1266 apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) GGAATCCTCCCGTCTCCCACC 0.547000 32 108 0 0 1 0 0 PPFIA2 8499 broad.mit.edu 37 12 81675076 81675076 + Missense_Mutation SNP C C A TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr12:81675076C>A ENST00000550584.2 - 26 3467 c.3172G>T c.(3172-3174)Gat>Tat p.D1058Y PPFIA2_ENST00000541570.2_Missense_Mutation_p.D594Y|PPFIA2_ENST00000548586.1_Missense_Mutation_p.D1052Y|RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000407050.4_Missense_Mutation_p.D957Y|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000443686.3_Missense_Mutation_p.D953Y|PPFIA2_ENST00000552948.1_Missense_Mutation_p.D1037Y|PPFIA2_ENST00000549325.1_Missense_Mutation_p.D1043Y|PPFIA2_ENST00000541017.1_Missense_Mutation_p.D244Y|PPFIA2_ENST00000333447.7_Missense_Mutation_p.D1043Y|PPFIA2_ENST00000550359.2_Missense_Mutation_p.D905Y|PPFIA2_ENST00000549396.1_Missense_Mutation_p.D1058Y NM_001220473.1 NP_001207402.1 B7Z663 B7Z663_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 957 NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5) 85 ACACGGAGATCTTTTTTTGTT 0.348000 4 32 0.00024832 0.00025525 1 1 0 MYO1E 4643 broad.mit.edu 37 15 59494582 59494582 + Silent SNP C C T rs142116200 byFrequency TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr15:59494582C>T ENST00000288235.4 - 16 2040 c.1641G>A c.(1639-1641)ccG>ccA p.P547P NM_004998.3 NP_004989.2 Q12965 MYO1E_HUMAN myosin IE 547 Myosin head-like. actin filament-based movement myosin complex actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1) 33 all cancers(107;0.207) GCAGATTTTCCGGAAATAAAG 0.408000 4 98 0 0 1 0 0 KCNK4 50801 broad.mit.edu 37 11 64067045 64067045 + Missense_Mutation SNP C C T TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr11:64067045C>T ENST00000538767.1 + 6 934 c.682C>T c.(682-684)Cct>Tct p.P228S KCNK4_ENST00000539216.1_Silent_p.N343N|KCNK4_ENST00000422670.2_Silent_p.N343N|KCNK4_ENST00000394525.2_Silent_p.N343N|RP11-783K16.10_ENST00000539086.1_RNA Q9NYG8 KCNK4_HUMAN potassium channel, subfamily K, member 4 323 integral to membrane potassium channel activity|voltage-gated ion channel activity breast(2)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1) 10 CCAGCGAGAACCTGGCCTTCA 0.731000 26 93 0 0 1 0 0 MYH3 4621 broad.mit.edu 37 17 10533201 10533201 + Silent SNP C C T TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr17:10533201C>T ENST00000583535.1 - 39 5703 c.5616G>A c.(5614-5616)ctG>ctA p.L1872L MYH3_ENST00000226209.7_Silent_p.L1872L NM_002470.3 NP_002461.2 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, embryonic 1872 muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 83 CTTTCACTTGCAGTTTATCCA 0.517000 70 91 0 0 1 0 0 CACNA1S 779 broad.mit.edu 37 1 201061191 201061191 + Silent SNP G G A TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr1:201061191G>A ENST00000362061.3 - 4 676 c.450C>T c.(448-450)gcC>gcT p.A150A CACNA1S_ENST00000367338.3_Silent_p.A150A NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 150 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) TGCTCATTGGGGCTGTGTGGC 0.597000 37 82 0 0 1 0 0 GTF3C3 9330 broad.mit.edu 37 2 197657782 197657782 + Silent SNP C C T TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr2:197657782C>T ENST00000263956.3 - 3 398 c.309G>A c.(307-309)gaG>gaA p.E103E GTF3C3_ENST00000409364.3_Silent_p.E103E NM_012086.4 NP_036218.1 Q9Y5Q9 TF3C3_HUMAN general transcription factor IIIC, polypeptide 3, 102kDa 103 Glu-rich. transcription factor TFIIIC complex DNA binding|protein binding p.E103E(1) breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 cctcctcctcctcttcttcct 0.468000 3 39 0 0 1 0 0 BVES 11149 broad.mit.edu 37 6 105577362 105577362 + Silent SNP G G T TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr6:105577362G>T ENST00000314641.5 - 3 459 c.243C>A c.(241-243)atC>atA p.I81I BVES_ENST00000336775.5_Silent_p.I81I|BVES_ENST00000446408.2_Silent_p.I81I NM_001199563.1 NP_001186492.1 Q8NE79 POPD1_HUMAN blood vessel epicardial substance 81 epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport integral to membrane|lateral plasma membrane|tight junction structural molecule activity NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1) 21 all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238) TGGCCCAGACGATATAAAGGG 0.383000 22 94 9.57634e-11 1.0635e-10 1 1 0 NDUFA7 4701 broad.mit.edu 37 19 8385742 8385742 + Splice_Site SNP G G A TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr19:8385742G>A ENST00000301457.2 - 2 137 c.101_splice c.e2+1 p.R34_splice NDUFA7_ENST00000598884.1_Splice_Site_p.R34_splice NM_005001.3 NP_004992.2 O95182 NDUA7_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7, 14.5kDa 34 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity NS(1)|central_nervous_system(1)|lung(2)|ovary(1) 5 NADH(DB00157) CCTGCTCACCGCTTGGAGATC 0.602000 6 267 0 0 1 0 0 KRT82 3888 broad.mit.edu 37 12 52788815 52788815 + Missense_Mutation SNP G G A rs139996519 TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr12:52788815G>A ENST00000257974.2 - 9 1563 c.1486C>T c.(1486-1488)Cgg>Tgg p.R496W RP3-416H24.4_ENST00000547174.1_RNA NM_033033.3 NP_149022.3 Q9NSB4 KRT82_HUMAN keratin 82 496 Tail. keratin filament protein binding|structural constituent of epidermis p.R496W(1) endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 29 BRCA - Breast invasive adenocarcinoma(357;0.193) CTGGATTTCCGCCCGCTCCCA 0.642000 26 69 0 0 1 0 0 ZIM2 23619 broad.mit.edu 37 19 57293445 57293445 + Silent SNP C C T TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr19:57293445C>T ENST00000391708.3 - 10 1064 c.522G>A c.(520-522)gaG>gaA p.E174E ZIM2_ENST00000593711.1_Silent_p.E174E|ZIM2_ENST00000599935.1_Silent_p.E174E|ZIM2_ENST00000221722.5_Silent_p.E174E|AC006115.3_ENST00000597946.1_RNA|AC006115.3_ENST00000594400.1_RNA|AC006115.3_ENST00000595954.1_RNA|ZIM2_ENST00000601070.1_Silent_p.E174E NM_001146326.1|NM_001146327.1 NP_001139798.1|NP_001139799.1 zinc finger, imprinted 2 NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0314) AGGTCACCAACTCCTCAAACA 0.502000 31 128 0 0 1 0 0 OR10AG1 282770 broad.mit.edu 37 11 55735497 55735497 + Missense_Mutation SNP A A C TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr11:55735497A>C ENST00000312345.2 - 1 493 c.443T>G c.(442-444)aTt>aGt p.I148S NM_001005491.1 NP_001005491.1 Q8NH19 O10AG_HUMAN olfactory receptor, family 10, subfamily AG, member 1 148 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 40 Esophageal squamous(21;0.0137) TGTTTCCCCAATTACTACAGG 0.413000 16 70 0 0 1 0 0 AMPH 273 broad.mit.edu 37 7 38424475 38424475 + Missense_Mutation SNP C C G TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr7:38424475C>G ENST00000356264.2 - 21 2247 c.2032G>C c.(2032-2034)Gac>Cac p.D678H AMPH_ENST00000325590.5_Missense_Mutation_p.D636H|AMPH_ENST00000428293.2_Missense_Mutation_p.D636H NM_001635.3 NP_001626.1 P49418 AMPH_HUMAN amphiphysin 678 SH3. endocytosis|synaptic transmission actin cytoskeleton|cell junction|synaptic vesicle membrane p.D678H(1) breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2) 62 GTGGCAAGGTCTCTGTACTGA 0.478000 22 106 0 0 1 0 0 FGD2 221472 broad.mit.edu 37 6 36978761 36978761 + Missense_Mutation SNP A A C TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr6:36978761A>C ENST00000274963.8 + 3 484 c.313A>C c.(313-315)Aag>Cag p.K105Q NM_173558.3 NP_775829.2 Q7Z6J4 FGD2_HUMAN FYVE, RhoGEF and PH domain containing 2 105 DH. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 25 GCCAGAGAAGAAGATCGTCCA 0.602000 16 72 0 0 1 0 0 ZNF574 64763 broad.mit.edu 37 19 42582950 42582950 + Silent SNP G G A TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr19:42582950G>A ENST00000600245.1 + 2 847 c.192G>A c.(190-192)acG>acA p.T64T CTB-59C6.3_ENST00000594531.1_RNA|ZNF574_ENST00000222339.7_Silent_p.T154T|ZNF574_ENST00000359044.4_Silent_p.T64T Q6ZN55 ZN574_HUMAN zinc finger protein 574 64 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 20 Prostate(69;0.059) CTTCAGGCACGGGCCTCTATC 0.607000 7 99 0 0 1 0 0 LRP8 7804 broad.mit.edu 37 1 53722976 53722976 + Silent SNP G G A TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr1:53722976G>A ENST00000306052.6 - 15 2471 c.2370C>T c.(2368-2370)gtC>gtT p.V790V LRP8_ENST00000465675.1_Silent_p.V343V|LRP8_ENST00000371454.2_Silent_p.V790V|LRP8_ENST00000354412.3_Intron|LRP8_ENST00000347547.2_Silent_p.V620V|LRP8_ENST00000460214.1_5'UTR NM_004631.4 NP_004622.2 Q14114 LRP8_HUMAN low density lipoprotein receptor-related protein 8, apolipoprotein e receptor 790 Clustered O-linked oligosaccharides. cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis caveola calcium ion binding|very-low-density lipoprotein particle receptor activity endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1) 21 GAGCCCTGGGGACACTAACTG 0.572000 4 63 0 0 1 0 0 TPRKB 51002 broad.mit.edu 37 2 73961564 73961564 + Missense_Mutation SNP G G A TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr2:73961564G>A ENST00000318190.7 - 2 253 c.133C>T c.(133-135)Cct>Tct p.P45S TPRKB_ENST00000272424.5_Missense_Mutation_p.P45S|TPRKB_ENST00000409716.2_Missense_Mutation_p.P45S Q9Y3C4 TPRKB_HUMAN TP53RK binding protein 45 protein catabolic process cytosol|nucleus protein kinase binding lung(2)|ovary(1)|skin(1) 4 ACCACTGTAGGATTTATCAGT 0.468000 32 57 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179642012 179642012 + Missense_Mutation SNP C C T TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr2:179642012C>T ENST00000589042.1 - 27 4902 c.4678G>A c.(4678-4680)Gaa>Aaa p.E1560K TTN_ENST00000460472.2_Missense_Mutation_p.E1514K|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E1514K|TTN_ENST00000342992.6_Missense_Mutation_p.E1560K|TTN_ENST00000591111.1_Missense_Mutation_p.E1560K|TTN_ENST00000360870.5_Missense_Mutation_p.E1560K|TTN_ENST00000342175.6_Missense_Mutation_p.E1514K NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 1295 Ig-like 7. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTCAGTTTTTCTACAAACATC 0.393000 11 43 0 0 1 0 0 SOCS1 8651 broad.mit.edu 37 16 11349065 11349065 + Missense_Mutation SNP C C T TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr16:11349065C>T ENST00000332029.2 - 2 421 c.271G>A c.(271-273)Gag>Aag p.E91K RMI2_ENST00000572173.1_Intron NM_003745.1 NP_003736.1 O15524 SOCS1_HUMAN suppressor of cytokine signaling 1 91 SH2. interferon-gamma-mediated signaling pathway|JAK-STAT cascade|negative regulation of insulin receptor signaling pathway|negative regulation of tyrosine phosphorylation of Stat3 protein|regulation of growth|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytosol insulin-like growth factor receptor binding|protein kinase binding|protein kinase inhibitor activity p.Y64fs*1(1)|p.0?(1)|p.D63_Q108del(1) breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(66)|lung(3) 71 CGCAGCCGCTCGTGCGCCCCG 0.701000 """F, O""" """Hodgkin Lymphoma, PMBL""" 3 14 0 0 1 0 0 DYTN 391475 broad.mit.edu 37 2 207527900 207527900 + Missense_Mutation SNP C C G TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr2:207527900C>G ENST00000452335.2 - 11 1476 c.1360G>C c.(1360-1362)Gaa>Caa p.E454Q NM_001093730.1 NP_001087199.1 A2CJ06 DYTN_HUMAN dystrotelin 454 plasma membrane zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1) 36 LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153) TCTGGTGATTCTGGATTTCGC 0.483000 22 39 0 0 1 0 0 TGFBR2 7048 broad.mit.edu 37 3 30691832 30691832 + Missense_Mutation SNP A A G TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr3:30691832A>G ENST00000295754.5 + 3 716 c.334A>G c.(334-336)Att>Gtt p.I112V TGFBR2_ENST00000359013.4_Missense_Mutation_p.I137V NM_003242.5 NP_003233.4 P37173 TGFR2_HUMAN transforming growth factor, beta receptor II (70/80kDa) 112 activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis caveola|external side of plasma membrane ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2) 53 CCATGACTTTATTCTGGAAGA 0.433000 40 70 0 0 1 0 0 GDPD2 54857 broad.mit.edu 37 X 69649407 69649407 + Missense_Mutation SNP C C T TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chrX:69649407C>T ENST00000453994.2 + 11 1362 c.1001C>T c.(1000-1002)aCg>aTg p.T334M GDPD2_ENST00000538649.1_Missense_Mutation_p.T255M|GDPD2_ENST00000536730.1_Missense_Mutation_p.T255M|GDPD2_ENST00000374382.3_Missense_Mutation_p.T334M|GDPD2_ENST00000472623.1_3'UTR NM_001171192.1 NP_001164663.1 Q9HCC8 GDPD2_HUMAN glycerophosphodiester phosphodiesterase domain containing 2 334 GDPD. glycerol metabolic process|lipid metabolic process cytoplasm|cytoskeleton|integral to membrane|plasma membrane glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2) 22 Renal(35;0.156) GAGAGTCAGACGGTACCAGCA 0.517000 3 41 0 0 1 0 0 PRMT3 10196 broad.mit.edu 37 11 20448356 20448356 + Missense_Mutation SNP T T C TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr11:20448356T>C ENST00000331079.6 + 10 1155 c.938T>C c.(937-939)aTt>aCt p.I313T PRMT3_ENST00000437750.2_Missense_Mutation_p.I251T NM_001145167.1|NM_005788.3 NP_001138639.1|NP_005779.1 O60678 ANM3_HUMAN protein arginine methyltransferase 3 313 zinc ion binding endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1) 17 AAAGGAAAGATTGAAGAAGTT 0.274000 6 15 0 0 1 0 0 CES4A 283848 broad.mit.edu 37 16 67043004 67043004 + Missense_Mutation SNP C C G TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr16:67043004C>G ENST00000326686.5 + 14 1645 c.1645C>G c.(1645-1647)Ctg>Gtg p.L549V CES4A_ENST00000398354.1_Missense_Mutation_p.L479V|CES4A_ENST00000535696.1_3'UTR|CES4A_ENST00000540947.2_3'UTR|CES4A_ENST00000540579.1_Missense_Mutation_p.L451V|CES4A_ENST00000541479.1_Missense_Mutation_p.L502V|CES4A_ENST00000338718.4_3'UTR|CES4A_ENST00000397205.2_3'UTR Q5XG92 EST4A_HUMAN carboxylesterase 4A 549 extracellular region carboxylesterase activity large_intestine(2)|liver(2)|lung(4)|ovary(1) 9 TTGGATGAGTCTGTACCAGTC 0.522000 20 191 0 0 1 0 0 SMPD4P1 645280 broad.mit.edu 37 22 20970528 20970528 + RNA SNP G G A TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr22:20970528G>A ENST00000443839.1 - 0 2096 CTGGGACTCTGACCCATATAG 0.488000 9 21 0 0 1 0 0 EVPL 2125 broad.mit.edu 37 17 74005051 74005051 + Missense_Mutation SNP A A T TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr17:74005051A>T ENST00000301607.3 - 22 4488 c.4235T>A c.(4234-4236)cTg>cAg p.L1412Q EVPL_ENST00000586740.1_Missense_Mutation_p.L1434Q NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 1412 Central fibrous rod domain. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 GCCGGCCCGCAGCTGCTGCAC 0.697000 47 76 0 0 1 0 0 GLP2R 9340 broad.mit.edu 37 17 9792806 9792806 + Silent SNP G G A TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr17:9792806G>A ENST00000262441.5 + 13 1959 c.1446G>A c.(1444-1446)tcG>tcA p.S482S GLP2R_ENST00000574745.1_Silent_p.S302S NM_004246.1 NP_004237.1 O95838 GLP2R_HUMAN glucagon-like peptide 2 receptor 482 G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation integral to membrane|plasma membrane endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 44 Glucagon recombinant(DB00040) AGAAGCTCTCGGAAGGAGATG 0.597000 34 79 0 0 1 0 0 ZNF677 342926 broad.mit.edu 37 19 53754794 53754794 + Missense_Mutation SNP A A G TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr19:53754794A>G ENST00000333952.4 - 3 175 c.10T>C c.(10-12)Tct>Cct p.S4P ZNF677_ENST00000598513.1_Missense_Mutation_p.S4P|ZNF677_ENST00000598806.1_Missense_Mutation_p.S4P|ZNF677_ENST00000594681.1_Missense_Mutation_p.S4P|ZNF677_ENST00000599012.1_Missense_Mutation_p.S4P|ZNF677_ENST00000601413.1_Missense_Mutation_p.S4P|ZNF677_ENST00000601828.1_Missense_Mutation_p.S4P|ZNF677_ENST00000595293.1_5'UTR Q86XU0 ZN677_HUMAN zinc finger protein 677 4 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 GBM - Glioblastoma multiforme(134;0.00352) TTTACCTGAGAAAGAGCCATT 0.368000 7 39 0 0 1 0 0 EHBP1L1 254102 broad.mit.edu 37 11 65350465 65350465 + Silent SNP G G A TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr11:65350465G>A ENST00000309295.4 + 9 2587 c.2322G>A c.(2320-2322)ttG>ttA p.L774L NM_001099409.1 NP_001092879.1 Q8N3D4 EH1L1_HUMAN EH domain binding protein 1-like 1 774 Glu-rich. central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 GTGCGATATTGGGGACCCAAG 0.527000 10 44 0 0 1 0 0 QKI 9444 broad.mit.edu 37 6 163984721 163984721 + Missense_Mutation SNP G G C TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr6:163984721G>C ENST00000361752.3 + 6 1455 c.904G>C c.(904-906)Gag>Cag p.E302Q QKI_ENST00000392127.2_Missense_Mutation_p.E302Q|QKI_ENST00000453779.2_Missense_Mutation_p.E302Q|QKI_ENST00000424802.3_Missense_Mutation_p.E294Q|QKI_ENST00000275262.7_Missense_Mutation_p.E302Q|QKI_ENST00000361195.2_Missense_Mutation_p.E294Q NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2 NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1 Q96PU8 QKI_HUMAN QKI, KH domain containing, RNA binding 302 mRNA processing|mRNA transport|regulation of translation|RNA splicing cytoplasm|nucleus|plasma membrane RNA binding|SH3 domain binding central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2) 27 Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203) all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234) ATCAATCCTTGAGTATCCTAT 0.423000 28 83 0 0 1 0 0 DPP4 1803 broad.mit.edu 37 2 162865097 162865097 + Silent SNP C C T TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr2:162865097C>T ENST00000360534.3 - 22 2522 c.1962G>A c.(1960-1962)gcG>gcA p.A654A DPP4_ENST00000491591.1_5'UTR NM_001935.3 NP_001926.2 P27487 DPP4_HUMAN dipeptidyl-peptidase 4 654 cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 48 Sitagliptin(DB01261) GGGATACAGGCGCCACGGCTA 0.468000 19 74 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151962255 151962255 + Missense_Mutation SNP C C T TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr7:151962255C>T ENST00000355193.2 - 8 1270 c.1052G>A c.(1051-1053)gGa>gAa p.G351E KMT2C_ENST00000262189.6_Missense_Mutation_p.G351E lysine (K)-specific methyltransferase 2C TAAGAGGTCTCCCGGGCTGTC 0.393000 19 218 0 0 1 0 0 YRDC 79693 broad.mit.edu 37 1 38269639 38269639 + Missense_Mutation SNP T T A TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr1:38269639T>A ENST00000373044.2 - 5 802 c.798A>T c.(796-798)caA>caT p.Q266H NM_024640.3 NP_078916.3 Q86U90 YRDC_HUMAN yrdC N(6)-threonylcarbamoyltransferase domain containing 266 negative regulation of transport membrane|mitochondrion lung(2)|upper_aerodigestive_tract(1) 3 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) CGTACTTCTGTTGGAGGATGG 0.552000 17 45 0 0 1 0 0 CEP68 23177 broad.mit.edu 37 2 65301482 65301482 + Missense_Mutation SNP G G A TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr2:65301482G>A ENST00000377990.2 + 4 2154 c.1951G>A c.(1951-1953)Ggg>Agg p.G651R CEP68_ENST00000260569.4_Missense_Mutation_p.G514R|CEP68_ENST00000546106.1_Missense_Mutation_p.G651R|RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000497039.1_3'UTR|CEP68_ENST00000537589.1_3'UTR NM_015147.2 NP_055962.2 Q76N32 CEP68_HUMAN centrosomal protein 68kDa 651 centrosome organization centrosome breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 TACTGACCACGGGACTGCAGC 0.483000 4 81 0 0 1 0 0 NALCN 259232 broad.mit.edu 37 13 101759890 101759890 + Missense_Mutation SNP C C G TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr13:101759890C>G ENST00000251127.6 - 22 2608 c.2527G>C c.(2527-2529)Gaa>Caa p.E843Q NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 843 integral to membrane sodium channel activity|voltage-gated ion channel activity NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) AACCTGTGTTCTCGCCCGACA 0.498000 13 91 0 0 1 0 0 GRB10 2887 broad.mit.edu 37 7 50742257 50742257 + Silent SNP G G A TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr7:50742257G>A ENST00000403097.1 - 5 1000 c.220C>T c.(220-222)Ctg>Ttg p.L74L GRB10_ENST00000407526.1_Silent_p.L22L|GRB10_ENST00000335866.3_Silent_p.L22L|GRB10_ENST00000357271.5_Silent_p.L80L|GRB10_ENST00000406641.1_Silent_p.L22L|GRB10_ENST00000402497.1_Silent_p.L22L|GRB10_ENST00000402578.1_Silent_p.L22L|GRB10_ENST00000401949.1_Silent_p.L80L|GRB10_ENST00000439599.1_Silent_p.L74L|GRB10_ENST00000398812.2_Silent_p.L80L|GRB10_ENST00000398810.2_Silent_p.L22L Q13322 GRB10_HUMAN growth factor receptor-bound protein 10 80 insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway cytosol|plasma membrane insulin receptor binding|SH3/SH2 adaptor activity NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 41 Glioma(55;0.08)|all_neural(89;0.245) CCATTCTGCAGGAGGGGCACC 0.637000 Russell-Silver syndrome 17 61 0 0 1 0 0 NCDN 23154 broad.mit.edu 37 1 36030832 36030832 + Silent SNP T T G TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr1:36030832T>G ENST00000373243.2 + 7 2141 c.1758T>G c.(1756-1758)ctT>ctG p.L586L NCDN_ENST00000373253.3_Silent_p.L569L|NCDN_ENST00000356090.4_Silent_p.L586L NM_014284.2 NP_055099.1 Q9UBB6 NCDN_HUMAN neurochondrin 586 neuron projection development cytosol|dendrite|neuronal cell body breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2) 16 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) TTGCAGCTCTTCAGGGAACAC 0.612000 OREG0013355 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 28 132 0 0 1 0 0 ZNF208 7757 broad.mit.edu 37 19 22155266 22155266 + Missense_Mutation SNP C C A TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr19:22155266C>A ENST00000397126.4 - 4 2718 c.2570G>T c.(2569-2571)gGa>gTa p.G857V ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) GGGTTTCTCTCCAGTATGAAT 0.373000 6 58 8.12818e-05 8.39406e-05 1 1 0 TATDN2 9797 broad.mit.edu 37 3 10290992 10290992 + Missense_Mutation SNP C C G TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr3:10290992C>G ENST00000287652.4 + 2 1159 c.108C>G c.(106-108)agC>agG p.S36R TATDN2_ENST00000448281.2_Missense_Mutation_p.S36R NM_014760.3 NP_055575.3 Q93075 TATD2_HUMAN TatD DNase domain containing 2 36 nucleus endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2) 28 CCCCCTCCAGCCGGCCAGCTC 0.672000 8 120 0 0 1 0 0 SIN3A 25942 broad.mit.edu 37 15 75682073 75682073 + Missense_Mutation SNP C C G TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr15:75682073C>G ENST00000394947.3 - 16 3255 c.2941G>C c.(2941-2943)Gat>Cat p.D981H SIN3A_ENST00000360439.4_Missense_Mutation_p.D981H|SIN3A_ENST00000394949.4_Missense_Mutation_p.D981H NM_001145358.1 NP_001138830.1 Q96ST3 SIN3A_HUMAN SIN3 transcription regulator family member A 981 blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|Sin3 complex protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 63 CTCAGTGAATCTTCATACTGT 0.483000 43 92 0 0 1 0 0 ACOT4 122970 broad.mit.edu 37 14 74062114 74062114 + Missense_Mutation SNP G G A TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr14:74062114G>A ENST00000326303.4 + 3 1276 c.1022G>A c.(1021-1023)cGg>cAg p.R341Q NM_152331.3 NP_689544.3 Q8N9L9 ACOT4_HUMAN acyl-CoA thioesterase 4 341 acyl-CoA metabolic process|dicarboxylic acid metabolic process|long-chain fatty acid metabolic process|saturated monocarboxylic acid metabolic process|short-chain fatty acid metabolic process|succinyl-CoA metabolic process|unsaturated monocarboxylic acid metabolic process|very long-chain fatty acid metabolic process peroxisome carboxylesterase activity|palmitoyl-CoA hydrolase activity endometrium(1)|large_intestine(3)|lung(4) 8 BRCA - Breast invasive adenocarcinoma(234;0.00331) GTCTCTGAACGGTTACAGGCC 0.517000 14 60 0 0 1 0 0 VILL 50853 broad.mit.edu 37 3 38040429 38040429 + Silent SNP G G A rs35699577 TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr3:38040429G>A ENST00000283713.6 + 10 1235 c.969G>A c.(967-969)ccG>ccA p.P323P VILL_ENST00000383759.2_Silent_p.P323P|VILL_ENST00000465644.1_Silent_p.P41P O15195 VILL_HUMAN villin-like 323 actin filament capping|cytoskeleton organization actin cytoskeleton actin binding|structural constituent of cytoskeleton cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2) 28 KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661) AGGGCTACCCGACCTACACCA 0.657000 8 28 0 0 1 0 0 SH3TC1 54436 broad.mit.edu 37 4 8229893 8229893 + Silent SNP C C T TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr4:8229893C>T ENST00000539824.1 + 12 2618 c.2244C>T c.(2242-2244)atC>atT p.I748I SH3TC1_ENST00000245105.3_Silent_p.I824I Q8TE82 S3TC1_HUMAN SH3 domain and tetratricopeptide repeats 1 824 binding NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 TCCGTGCCATCGTGGACCACC 0.662000 3 22 0 0 1 0 0 C1RL 51279 broad.mit.edu 37 12 7254578 7254578 + Missense_Mutation SNP G G A TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr12:7254578G>A ENST00000266542.4 - 3 498 c.406C>T c.(406-408)Cgg>Tgg p.R136W C1RL_ENST00000545337.1_Missense_Mutation_p.R136W|C1RL_ENST00000544702.1_Missense_Mutation_p.R136W|C1RL_ENST00000545280.1_Intron NM_016546.2 NP_057630.2 Q9NZP8 C1RL_HUMAN complement component 1, r subcomponent-like 136 CUB. complement activation, classical pathway|innate immune response|proteolysis serine-type endopeptidase activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 AAGGTCAGCCGCAAACTCCTC 0.607000 6 216 0 0 1 0 0 PDE2A 5138 broad.mit.edu 37 11 72296443 72296443 + Missense_Mutation SNP C C T TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr11:72296443C>T ENST00000334456.5 - 16 1503 c.1258G>A c.(1258-1260)Gag>Aag p.E420K PDE2A_ENST00000444035.2_Missense_Mutation_p.E411K|PDE2A_ENST00000418754.2_Missense_Mutation_p.E305K|PDE2A_ENST00000376450.3_Missense_Mutation_p.E164K|PDE2A_ENST00000540345.1_Missense_Mutation_p.E411K|RP11-169D4.2_ENST00000545254.1_RNA|PDE2A_ENST00000544570.1_Missense_Mutation_p.E413K NM_002599.4 NP_002590.1 O00408 PDE2A_HUMAN phosphodiesterase 2A, cGMP-stimulated 420 GAF 2. platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 36 BRCA - Breast invasive adenocarcinoma(5;3.55e-05) Sildenafil(DB00203)|Sulindac(DB00605) TTTCTGGCCTCCGTGATGATC 0.607000 OREG0021196 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 84 0 0 1 0 0 HTT 3064 broad.mit.edu 37 4 3189497 3189497 + Silent SNP G G A TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr4:3189497G>A ENST00000355072.5 + 39 5254 c.5109G>A c.(5107-5109)ccG>ccA p.P1703P NM_002111.6 NP_002102.4 P42858 HD_HUMAN huntingtin 1703 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 87 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) CCTTCTCTCCGTATTTAATCT 0.403000 4 97 0 0 1 0 0 EHBP1L1 254102 broad.mit.edu 37 11 65350925 65350925 + Missense_Mutation SNP G G A TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr11:65350925G>A ENST00000309295.4 + 9 3047 c.2782G>A c.(2782-2784)Gag>Aag p.E928K NM_001099409.1 NP_001092879.1 Q8N3D4 EH1L1_HUMAN EH domain binding protein 1-like 1 928 central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 ACAAGGGTCAGAGACTCAAGT 0.537000 11 28 0 0 1 0 0 FYN 2534 broad.mit.edu 37 6 112029202 112029202 + Silent SNP G G A TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr6:112029202G>A ENST00000354650.3 - 6 972 c.366C>T c.(364-366)gcC>gcT p.A122A FYN_ENST00000356013.2_Silent_p.A122A|FYN_ENST00000229470.5_Intron|FYN_ENST00000476769.2_5'UTR|FYN_ENST00000368682.3_Silent_p.A122A|FYN_ENST00000538466.1_Silent_p.A122A|FYN_ENST00000229471.4_Silent_p.A122A|FYN_ENST00000368667.2_Silent_p.A122A|FYN_ENST00000368678.4_Silent_p.A122A NM_002037.5 NP_002028.1 P06241 FYN_HUMAN FYN oncogene related to SRC, FGR, YES 122 SH3. axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction cytosol|endosome|plasma membrane ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 30 all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211) all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102) Dasatinib(DB01254) TCAAGGAGCGGGCTTCCCACC 0.418000 13 49 0 0 1 0 0 WNT9B 7484 broad.mit.edu 37 17 44950110 44950110 + Missense_Mutation SNP T T C TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr17:44950110T>C ENST00000393461.2 + 2 358 c.305T>C c.(304-306)cTg>cCg p.L102P WNT9B_ENST00000290015.2_Missense_Mutation_p.L102P O14905 WNT9B_HUMAN wingless-type MMTV integration site family, member 9B 102 anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|G-protein-coupled receptor binding large_intestine(2)|lung(8) 10 BRCA - Breast invasive adenocarcinoma(9;0.0257) AACTGTAGCCTGGAGGGCAGG 0.672000 7 31 0 0 1 0 0 PREX1 57580 broad.mit.edu 37 20 47296206 47296206 + Missense_Mutation SNP C C G TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr20:47296206C>G ENST00000396220.1 - 12 1544 c.1522G>C c.(1522-1524)Gag>Cag p.E508Q PREX1_ENST00000371941.3_Missense_Mutation_p.E508Q Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 508 actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 110 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) ATGATGTCCTCCAGCTCACTT 0.592000 19 80 0 0 1 0 0 INHBA 3624 broad.mit.edu 37 7 41729352 41729352 + Missense_Mutation SNP G G A TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr7:41729352G>A ENST00000242208.4 - 3 1423 c.1177C>T c.(1177-1179)Ccc>Tcc p.P393S INHBA_ENST00000442711.1_Missense_Mutation_p.P393S|AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000464515.1_5'UTR NM_002192.2 NP_002183.1 P08476 INHBA_HUMAN inhibin, beta A 393 cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway activin A complex|inhibin A complex cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 AGCTTGGTGGGCACACAGCAC 0.522000 TSP Lung(11;0.080) 4 103 0 0 1 0 0 CRB1 23418 broad.mit.edu 37 1 197404200 197404200 + Silent SNP A A C TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr1:197404200A>C ENST00000367397.1 + 5 2208 c.1350A>C c.(1348-1350)ggA>ggC p.G450G CRB1_ENST00000367399.2_Silent_p.G957G|CRB1_ENST00000367400.3_Silent_p.G1069G|CRB1_ENST00000544212.1_Silent_p.G550G|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000535699.1_Silent_p.G1045G P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 1069 EGF-like 11. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 TTGCTACTGGAAGCCTCAACT 0.443000 4 118 0 0 1 0 0 TRIM3 10612 broad.mit.edu 37 11 6472280 6472280 + Missense_Mutation SNP C C T TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr11:6472280C>T ENST00000525074.1 - 9 2106 c.1712G>A c.(1711-1713)gGa>gAa p.G571E TRIM3_ENST00000359518.3_Missense_Mutation_p.G571E|TRIM3_ENST00000536344.1_Missense_Mutation_p.G452E|TRIM3_ENST00000537602.1_Missense_Mutation_p.G493E|TRIM3_ENST00000345851.3_Missense_Mutation_p.G571E NM_001248006.1 NP_001234935.1 O75382 TRIM3_HUMAN tripartite motif containing 3 571 nervous system development|protein transport early endosome protein C-terminus binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3) 27 all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCGGCCAGCTCCAATCTTGGT 0.527000 11 49 0 0 1 0 0 EHBP1L1 254102 broad.mit.edu 37 11 65350558 65350558 + Missense_Mutation SNP G G T TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr11:65350558G>T ENST00000309295.4 + 9 2680 c.2415G>T c.(2413-2415)gaG>gaT p.E805D NM_001099409.1 NP_001092879.1 Q8N3D4 EH1L1_HUMAN EH domain binding protein 1-like 1 805 Glu-rich. central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 GGGGTTCAGAGGTTCCAGAGA 0.522000 14 49 4.3838e-07 4.72595e-07 1 1 0 HAPLN3 145864 broad.mit.edu 37 15 89424836 89424836 + Missense_Mutation SNP C C T TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr15:89424836C>T ENST00000359595.3 - 3 459 c.245G>A c.(244-246)cGg>cAg p.R82Q HAPLN3_ENST00000562889.1_Missense_Mutation_p.R144Q NM_178232.2 NP_839946.1 Q96S86 HPLN3_HUMAN hyaluronan and proteoglycan link protein 3 82 Ig-like V-type. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1) 17 Lung NSC(78;0.0392)|all_lung(78;0.077) ACGCACACGCCGCGGGGAGAC 0.662000 31 117 0 0 1 0 0 EHBP1L1 254102 broad.mit.edu 37 11 65349860 65349860 + Nonsense_Mutation SNP G G T TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr11:65349860G>T ENST00000309295.4 + 9 1982 c.1717G>T c.(1717-1719)Gag>Tag p.E573* NM_001099409.1 NP_001092879.1 Q8N3D4 EH1L1_HUMAN EH domain binding protein 1-like 1 573 Glu-rich. central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 CCTGGAAACAGAGACTGAGGT 0.582000 12 41 5.50884e-06 5.76992e-06 1 1 0 XDH 7498 broad.mit.edu 37 2 31570414 31570414 + Missense_Mutation SNP C C T TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr2:31570414C>T ENST00000379416.3 - 29 3298 c.3250G>A c.(3250-3252)Gct>Act p.A1084T NM_000379.3 NP_000370.2 P47989 XDH_HUMAN xanthine dehydrogenase 1084 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) TTGAGGTCAGCGCTGACAGAG 0.587000 4 118 0 0 1 0 0 ZBTB1 22890 broad.mit.edu 37 14 64988828 64988828 + Silent SNP T T C TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr14:64988828T>C ENST00000358738.3 + 2 997 c.606T>C c.(604-606)tcT>tcC p.S202S ZBTB1_ENST00000554015.1_Silent_p.S202S|ZBTB1_ENST00000394712.2_Silent_p.S202S|RP11-973N13.4_ENST00000554918.1_RNA NM_014950.2 NP_055765.2 Q9Y2K1 ZBTB1_HUMAN zinc finger and BTB domain containing 1 202 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1) 13 all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294) UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012) CCAAATTATCTACTCCAAAAG 0.388000 27 122 0 0 1 0 0 CYP39A1 51302 broad.mit.edu 37 6 46620227 46620227 + Silent SNP G G A TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr6:46620227G>A ENST00000275016.2 - 1 296 c.93C>T c.(91-93)tgC>tgT p.C31C NM_016593.3 NP_057677.2 Q9NYL5 CP39A_HUMAN cytochrome P450, family 39, subfamily A, polypeptide 1 31 bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process endoplasmic reticulum membrane|microsome 24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity EIF3K/CYP39A1(2) NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2) 21 AGCCCTTGATGCACGGGGGTC 0.448000 68 331 0 0 1 0 0 SYNE4 163183 broad.mit.edu 37 19 36497710 36497710 + Missense_Mutation SNP C C T TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr19:36497710C>T ENST00000324444.3 - 4 671 c.560G>A c.(559-561)cGa>cAa p.R187Q SYNE4_ENST00000340477.5_Intron NM_001039876.1 NP_001034965.1 spectrin repeat containing, nuclear envelope family member 4 GATGGAGTCTCGGTAAGCTCC 0.677000 7 24 0 0 1 0 0 CDH7 1005 broad.mit.edu 37 18 63491992 63491992 + Silent SNP G G A TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr18:63491992G>A ENST00000536984.2 + 6 1600 c.906G>A c.(904-906)gtG>gtA p.V302V CDH7_ENST00000397968.2_Silent_p.V302V|CDH7_ENST00000323011.3_Silent_p.V302V Q9ULB5 CADH7_HUMAN cadherin 7, type 2 302 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 80 Esophageal squamous(42;0.129) ACAAGATTGTGGATGGTGATG 0.378000 5 55 0 0 1 0 0 DNAJB4 11080 broad.mit.edu 37 1 78470850 78470853 + Frame_Shift_Del DEL ATAT ATAT - TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr1:78470850_78470853delATAT ENST00000370763.5 + 1 313_316 c.56_59delATAT c.(55-60)gtfs p.DI19fs DNAJB4_ENST00000487931.1_Intron|GIPC2_ENST00000476882.1_Intron NM_007034.3 NP_008965.2 Q9UDY4 DNJB4_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 4 19 J. protein folding|response to heat|response to unfolded protein cytoplasm|plasma membrane heat shock protein binding|unfolded protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 10 TCAGATGAAGATATTAAAAAGGCT 0.363 41 123 --- --- --- --- CACNA1E 777 broad.mit.edu 37 1 181726170 181726173 + Frame_Shift_Del DEL TTCT TTCT - TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr1:181726170_181726173delTTCT ENST00000526775.1 + 29 4345_4348 c.4180_4183delTTCT c.(4180-4185)ttfs p.FF1394fs CACNA1E_ENST00000358338.5_Frame_Shift_Del_p.FF1345fs|CACNA1E_ENST00000367573.2_Frame_Shift_Del_p.FF1413fs|CACNA1E_ENST00000367567.4_Frame_Shift_Del_p.FF1020fs|CACNA1E_ENST00000367570.1_Frame_Shift_Del_p.FF1413fs|CACNA1E_ENST00000357570.5_Frame_Shift_Del_p.FF1364fs|CACNA1E_ENST00000360108.3_Frame_Shift_Del_p.FF1394fs NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1413 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity p.F1414L(1) NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 CTTCCCCTTCTTCTTTGTCAATAT 0.475 29 73 --- --- --- --- BCLAF1 9774 broad.mit.edu 37 6 136599260 136599261 + Frame_Shift_Del DEL AG AG - TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr6:136599260_136599261delAG ENST00000531224.1 - 4 1010_1011 c.758_759delCT c.(757-759)tfs p.S253fs BCLAF1_ENST00000530767.1_Frame_Shift_Del_p.S253fs|BCLAF1_ENST00000353331.4_Frame_Shift_Del_p.S251fs|BCLAF1_ENST00000527536.1_Frame_Shift_Del_p.S253fs|BCLAF1_ENST00000392348.2_Frame_Shift_Del_p.S251fs|BCLAF1_ENST00000527759.1_Frame_Shift_Del_p.S251fs NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 253 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) TATTTTTTGCAGAGTGAACTGT 0.446 15 116 --- --- --- --- TAS2R60 338398 broad.mit.edu 37 7 143141293 143141294 + Frame_Shift_Del DEL CT CT - TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr7:143141293_143141294delCT ENST00000332690.1 + 1 748_749 c.748_749delCT c.(748-750)cfs p.L250fs EPHA1-AS1_ENST00000429289.1_RNA NM_177437.1 NP_803186.1 P59551 T2R60_HUMAN taste receptor, type 2, member 60 250 sensory perception of bitter taste integral to membrane G-protein coupled receptor activity breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2) 31 Melanoma(164;0.172) GCTGGCTCTCCTCTCTTTTGCC 0.495 18 101 --- --- --- --- FLYWCH1 84256 broad.mit.edu 37 16 2986360 2986362 + In_Frame_Del DEL TCC TCC - TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr16:2986360_2986362delTCC ENST00000399667.2 + 8 1957_1959 c.1594_1596delTCC c.(1594-1596)del p.S533del FLYWCH1_ENST00000416288.2_Intron|FLYWCH1_ENST00000570752.1_3'UTR|FLYWCH1_ENST00000253928.9_Intron Q4VC44 FWCH1_HUMAN FLYWCH-type zinc finger 1 505 nucleus DNA binding|metal ion binding kidney(1)|lung(3) 4 CCCCTCAGGGTCCTCCTGCCTCC 0.680 2 4 --- --- --- --- RPL23AP87 388574 broad.mit.edu 37 17 81188370 81188371 + RNA DEL AT AT - TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr17:81188370_81188371delAT ENST00000425566.1 + 0 2053_2054 NR_029406.1 aattttgaagatacagttgttt 0.223 2 4 --- --- --- --- HIPK4 147746 broad.mit.edu 37 19 40885564 40885565 + Frame_Shift_Ins INS - - G TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr19:40885564_40885565insG ENST00000291823.2 - 4 2064_2065 c.1780_1781insC c.(1780-1782)ccgfs p.P594fs NM_144685.3 NP_653286.2 Q8NE63 HIPK4_HUMAN homeodomain interacting protein kinase 4 594 cytoplasm ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 20 Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292) GTGGGAGCGGCGGGGTGGGAGC 0.678 2 4 --- --- --- --- CECR2 27443 broad.mit.edu 37 22 17979677 17979677 + Frame_Shift_Del DEL A A - TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr22:17979677delA ENST00000262608.8 + 4 437 c.437delA c.(436-438)cafs p.Q146fs CECR2_ENST00000400585.2_Frame_Shift_Del_p.Q24fs|CECR2_ENST00000400573.4_Frame_Shift_Del_p.Q165fs|CECR2_ENST00000342247.5_Frame_Shift_Del_p.Q145fs NM_031413.3 NP_113601.2 Q9BXF3 CECR2_HUMAN cat eye syndrome chromosome region, candidate 2 187 chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 59 all_epithelial(15;0.139) Lung(27;0.146) AGTGAAGGACAAAAAAATGTC 0.363 2 4 --- --- --- --- CRKL 1399 broad.mit.edu 37 22 21304075 21304075 + Frame_Shift_Del DEL T T - TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chr22:21304075delT ENST00000354336.3 + 3 1363 c.854delT c.(853-855)ctfs p.L285fs NM_005207.3 NP_005198.1 P46109 CRKL_HUMAN v-crk avian sarcoma virus CT10 oncogene homolog-like 285 SH3 2. JNK cascade|Ras protein signal transduction cytosol protein tyrosine kinase activity|SH3/SH2 adaptor activity|signal transducer activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7) 14 all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176) CGCAAAGGGCTTTTCCCCTTT 0.468 8 1078 --- --- --- --- PCYT1B 9468 broad.mit.edu 37 X 24593404 24593404 + Frame_Shift_Del DEL T T - TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba951306-939e-41b5-9eb3-edf2073c4920 50084462-d5a5-4110-98ec-430d14046af3 g.chrX:24593404delT ENST00000379145.1 - 7 730 c.686delA c.(685-687)gcfs p.D229fs PCYT1B_ENST00000356768.4_Frame_Shift_Del_p.D247fs|PCYT1B_ENST00000492876.1_5'UTR|PCYT1B_ENST00000379144.2_Frame_Shift_Del_p.D247fs NM_001163264.1 NP_001156736.1 Q9Y5K3 PCY1B_HUMAN phosphate cytidylyltransferase 1, choline, beta 247 Catalytic (Potential). endoplasmic reticulum choline-phosphate cytidylyltransferase activity breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1) 17 Choline(DB00122) CTTCATTTTGTCCACTTGGTT 0.378 15 22 --- --- --- ---