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 ADCY2 108 broad.mit.edu 37 5 7706894 7706894 + Missense_Mutation SNP C C T TCGA-TN-A7HI-01A-11D-A34J-08 TCGA-TN-A7HI-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4c79dc7-ef60-45fe-b9e6-f662d4be6b65 7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4 g.chr5:7706894C>T ENST00000338316.4 + 8 1236 c.1147C>T c.(1147-1149)Cgc>Tgc p.R383C ADCY2_ENST00000537121.1_Missense_Mutation_p.R203C NM_020546.2 NP_065433.2 Q08462 ADCY2_HUMAN adenylate cyclase 2 (brain) 383 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 119 TATCAACATGCGCGTGGGCGT 0.473000 57 224 0 0 1 0 0 WNK2 65268 broad.mit.edu 37 9 96021600 96021600 + Missense_Mutation SNP G G A TCGA-TN-A7HI-01A-11D-A34J-08 TCGA-TN-A7HI-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4c79dc7-ef60-45fe-b9e6-f662d4be6b65 7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4 g.chr9:96021600G>A ENST00000297954.4 + 11 2770 c.2770G>A c.(2770-2772)Gtc>Atc p.V924I WNK2_ENST00000395477.2_Missense_Mutation_p.V924I|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000349097.3_Missense_Mutation_p.V536I|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000427277.2_Missense_Mutation_p.V536I Q9Y3S1 WNK2_HUMAN WNK lysine deficient protein kinase 2 924 intracellular protein kinase cascade ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2) 54 GCCTACTGACGTCCCTCCTTC 0.667000 25 28 0 0 1 0 0 PLCL1 5334 broad.mit.edu 37 2 198950713 198950713 + Silent SNP G G A TCGA-TN-A7HI-01A-11D-A34J-08 TCGA-TN-A7HI-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4c79dc7-ef60-45fe-b9e6-f662d4be6b65 7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4 g.chr2:198950713G>A ENST00000428675.1 + 2 2870 c.2472G>A c.(2470-2472)cgG>cgA p.R824R PLCL1_ENST00000437704.2_Silent_p.R726R NM_006226.3 NP_006217.3 Q15111 PLCL1_HUMAN phospholipase C-like 1 824 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Quinacrine(DB01103) CTGGATATCGGCATGTTCCCC 0.448000 4 86 0 0 1 0 0 FAM86C2P 645332 broad.mit.edu 37 11 67560661 67560661 + RNA SNP G G A TCGA-TN-A7HI-01A-11D-A34J-08 TCGA-TN-A7HI-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4c79dc7-ef60-45fe-b9e6-f662d4be6b65 7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4 g.chr11:67560661G>A ENST00000528089.1 - 0 1089 TCGTATGTGAGTCCTACAGTG 0.463000 4 109 0 0 1 0 0 ZNF781 163115 broad.mit.edu 37 19 38160892 38160892 + Missense_Mutation SNP C C T TCGA-TN-A7HI-01A-11D-A34J-08 TCGA-TN-A7HI-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4c79dc7-ef60-45fe-b9e6-f662d4be6b65 7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4 g.chr19:38160892C>T ENST00000358582.4 - 4 906 c.158G>A c.(157-159)cGa>cAa p.R53Q ZNF781_ENST00000590008.1_Missense_Mutation_p.R53Q|ZFP30_ENST00000586732.1_Intron NM_152605.3 NP_689818.2 Q8N8C0 ZN781_HUMAN zinc finger protein 781 53 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R53Q(1) NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 24 AGTGTGAATTCGATTATGTTG 0.383000 72 179 0 0 1 0 0 GPR37L1 9283 broad.mit.edu 37 1 202097353 202097353 + Missense_Mutation SNP C C T TCGA-TN-A7HI-01A-11D-A34J-08 TCGA-TN-A7HI-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4c79dc7-ef60-45fe-b9e6-f662d4be6b65 7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4 g.chr1:202097353C>T ENST00000367282.4 + 2 1221 c.1115C>T c.(1114-1116)aCc>aTc p.T372I NM_004767.3 NP_004758.3 O60883 ETBR2_HUMAN G protein-coupled receptor 37 like 1 372 integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2) 18 GCCTTCTGCACCCTCCCAGAG 0.632000 27 59 0 0 1 0 0 VSTM4 196740 broad.mit.edu 37 10 50272780 50272780 + Splice_Site SNP C C T TCGA-TN-A7HI-01A-11D-A34J-08 TCGA-TN-A7HI-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4c79dc7-ef60-45fe-b9e6-f662d4be6b65 7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4 g.chr10:50272780C>T ENST00000332853.3 - 5 659 c.634_splice c.e5-1 p.V212_splice NM_001031746.3 NP_001026916.2 Q8IW00 CJ072_HUMAN V-set and transmembrane domain containing 4 212 integral to membrane|plasma membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2) 31 AATAATGTCTCACTGTGAAAG 0.353000 22 77 0 0 1 0 0 NCOR2 9612 broad.mit.edu 37 12 124856569 124856569 + Splice_Site SNP G G A rs147831485 by1000genomes TCGA-TN-A7HI-01A-11D-A34J-08 TCGA-TN-A7HI-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4c79dc7-ef60-45fe-b9e6-f662d4be6b65 7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4 g.chr12:124856569G>A ENST00000356219.3 - 21 2961 c.2807_splice c.e21+1 p.R936_splice NCOR2_ENST00000397355.1_Splice_Site_p.R919_splice|NCOR2_ENST00000429285.2_Splice_Site_p.R918_splice|NCOR2_ENST00000404121.2_Splice_Site_p.R489_splice|NCOR2_ENST00000405201.1_Splice_Site_p.R936_splice|NCOR2_ENST00000404621.1_Splice_Site_p.R918_splice NM_006312.5 NP_006303.4 Q9Y618 NCOR2_HUMAN nuclear receptor corepressor 2 936 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) CCCACTCACCGGTTCTTGTCG 0.647000 12 26 0 0 1 0 0 CDKL1 8814 broad.mit.edu 37 14 50808858 50808858 + Missense_Mutation SNP C C T TCGA-TN-A7HI-01A-11D-A34J-08 TCGA-TN-A7HI-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4c79dc7-ef60-45fe-b9e6-f662d4be6b65 7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4 g.chr14:50808858C>T ENST00000216378.2 - 5 1093 c.449G>A c.(448-450)cGg>cAg p.R150Q CDKL1_ENST00000395834.1_Missense_Mutation_p.R150Q|CDKL1_ENST00000356146.1_5'UTR Q00532 CDKL1_HUMAN cyclin-dependent kinase-like 1 (CDC2-related kinase) 149 Protein kinase. cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|stomach(1) 12 all_epithelial(31;0.000746)|Breast(41;0.0102) ACTCAAAAGCCGAGCAAATCC 0.328000 4 104 0 0 1 0 0 IQGAP3 128239 broad.mit.edu 37 1 156499965 156499965 + Nonsense_Mutation SNP G G A TCGA-TN-A7HI-01A-11D-A34J-08 TCGA-TN-A7HI-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4c79dc7-ef60-45fe-b9e6-f662d4be6b65 7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4 g.chr1:156499965G>A ENST00000361170.2 - 34 4346 c.4336C>T c.(4336-4338)Cga>Tga p.R1446* NM_178229.4 NP_839943.2 Q86VI3 IQGA3_HUMAN IQ motif containing GTPase activating protein 3 1446 small GTPase mediated signal transduction intracellular calmodulin binding|Ras GTPase activator activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3) 75 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GCTTCAAGTCGGCGTAGGTTC 0.652000 7 5 0 0 1 0 0 OTOGL 283310 broad.mit.edu 37 12 80651657 80651657 + Silent SNP A A T TCGA-TN-A7HI-01A-11D-A34J-08 TCGA-TN-A7HI-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4c79dc7-ef60-45fe-b9e6-f662d4be6b65 7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4 g.chr12:80651657A>T ENST00000458043.2 + 17 1743 c.1737A>T c.(1735-1737)acA>acT p.T579T OTOGL_ENST00000547103.1_Silent_p.T579T NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 TAAAAACCACATTTGGTTTAA 0.343000 7 25 0 0 1 0 0 MBL1P 8512 broad.mit.edu 37 10 81680769 81680769 + RNA SNP G G A TCGA-TN-A7HI-01A-11D-A34J-08 TCGA-TN-A7HI-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4c79dc7-ef60-45fe-b9e6-f662d4be6b65 7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4 g.chr10:81680769G>A ENST00000480805.1 + 0 836 NR_002724.2 GAAACACAGGGACTTCTGGAA 0.592000 4 23 0 0 1 0 0 ANKRD50 57182 broad.mit.edu 37 4 125592402 125592402 + Missense_Mutation SNP C C T TCGA-TN-A7HI-01A-11D-A34J-08 TCGA-TN-A7HI-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4c79dc7-ef60-45fe-b9e6-f662d4be6b65 7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4 g.chr4:125592402C>T ENST00000504087.1 - 4 3067 c.2030G>A c.(2029-2031)gGt>gAt p.G677D ANKRD50_ENST00000515641.1_Missense_Mutation_p.G498D NM_020337.2 NP_065070.1 Q9ULJ7 ANR50_HUMAN ankyrin repeat domain 50 677 NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 55 AGCAGTTCTACCTTCATTATC 0.463000 51 81 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178936082 178936082 + Missense_Mutation SNP G G A rs121913273 TCGA-TN-A7HI-01A-11D-A34J-08 TCGA-TN-A7HI-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4c79dc7-ef60-45fe-b9e6-f662d4be6b65 7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4 g.chr3:178936082G>A ENST00000263967.3 + 10 1781 c.1624G>A c.(1624-1626)Gaa>Aaa p.E542K NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 542 PI3K helical. E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E542K(545)|p.E542Q(10) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TCCTCTCTCTGAAATCACTGA 0.333000 E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT) 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 40 79 0 0 1 0 0 CYTH3 9265 broad.mit.edu 37 7 6204942 6204942 + Silent SNP C C T TCGA-TN-A7HI-01A-11D-A34J-08 TCGA-TN-A7HI-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4c79dc7-ef60-45fe-b9e6-f662d4be6b65 7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4 g.chr7:6204942C>T ENST00000350796.3 - 12 1225 c.1089G>A c.(1087-1089)ccG>ccA p.P363P CYTH3_ENST00000396741.2_Silent_p.P278P NM_004227.3 NP_004218.1 O43739 CYH3_HUMAN cytohesin 3 364 PH. regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport cytoplasm|membrane fraction|plasma membrane 1-phosphatidylinositol binding|ARF guanyl-nucleotide exchange factor activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1) 19 CCTCCGGGCTCGGGGCTGAGA 0.647000 31 34 0 0 1 0 0 ADAM2 2515 broad.mit.edu 37 8 39626997 39626997 + Missense_Mutation SNP G G A TCGA-TN-A7HI-01A-11D-A34J-08 TCGA-TN-A7HI-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4c79dc7-ef60-45fe-b9e6-f662d4be6b65 7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4 g.chr8:39626997G>A ENST00000265708.4 - 12 1229 c.1126C>T c.(1126-1128)Cgc>Tgc p.R376C ADAM2_ENST00000379853.2_Missense_Mutation_p.R250C|ADAM2_ENST00000521880.1_Missense_Mutation_p.R376C|ADAM2_ENST00000347580.4_Missense_Mutation_p.R357C NM_001464.3 NP_001455.3 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 376 cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1) 53 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) GGATCTAAGCGAGGCTGATTG 0.433000 19 135 0 0 1 0 0 LRRC7 57554 broad.mit.edu 37 1 70505431 70505431 + Nonsense_Mutation SNP G G A TCGA-TN-A7HI-01A-11D-A34J-08 TCGA-TN-A7HI-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4c79dc7-ef60-45fe-b9e6-f662d4be6b65 7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4 g.chr1:70505431G>A ENST00000310961.5 + 22 4243 c.3825G>A c.(3823-3825)tgG>tgA p.W1275* LRRC7_ENST00000415775.2_Nonsense_Mutation_p.W554*|LRRC7_ENST00000035383.5_Nonsense_Mutation_p.W1270* Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 1270 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 CTGCAGACTGGAGACAACAGC 0.448000 46 97 0 0 1 0 0 AGO1 26523 broad.mit.edu 37 1 36372605 36372605 + Silent SNP C C T TCGA-TN-A7HI-01A-11D-A34J-08 TCGA-TN-A7HI-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4c79dc7-ef60-45fe-b9e6-f662d4be6b65 7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4 g.chr1:36372605C>T ENST00000373204.4 + 12 1680 c.1467C>T c.(1465-1467)ttC>ttT p.F489F AGO1_ENST00000373206.1_Silent_p.F414F NM_012199.2 NP_036331.1 argonaute RISC catalytic component 1 AACCTTGTTTCTGCAAATATG 0.537000 45 71 0 0 1 0 0 ZNF395 55893 broad.mit.edu 37 8 28217203 28217203 + Missense_Mutation SNP G G T TCGA-TN-A7HI-01A-11D-A34J-08 TCGA-TN-A7HI-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4c79dc7-ef60-45fe-b9e6-f662d4be6b65 7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4 g.chr8:28217203G>T ENST00000344423.5 - 3 510 c.379C>A c.(379-381)Ctg>Atg p.L127M ZNF395_ENST00000523202.1_Missense_Mutation_p.L127M|ZNF395_ENST00000523095.1_Missense_Mutation_p.L127M NM_018660.2 NP_061130.1 Q9H8N7 ZN395_HUMAN zinc finger protein 395 127 transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Ovarian(32;2.06e-05) KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142) GGGCCCTGCAGCTCTGCCAGC 0.662000 15 122 1.3612e-06 1.40245e-06 1 1 0 MINOS1 440574 broad.mit.edu 37 1 19923551 19923551 + Silent SNP G G T TCGA-TN-A7HI-01A-11D-A34J-08 TCGA-TN-A7HI-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4c79dc7-ef60-45fe-b9e6-f662d4be6b65 7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4 g.chr1:19923551G>T ENST00000322753.6 + 1 68 c.12G>T c.(10-12)tcG>tcT p.S4S MINOS1-NBL1_ENST00000602662.1_5'UTR|MINOS1_ENST00000486890.1_3'UTR NM_001032363.3|NM_001204082.1|NM_001204083.1 NP_001027535.1|NP_001191011.1|NP_001191012.1 Q5TGZ0 CA151_HUMAN mitochondrial inner membrane organizing system 1 4 integral to membrane|mitochondrion TGTCTGAGTCGGAGCTCGGCA 0.667000 25 38 2.44723e-14 2.68406e-14 1 1 0 KCNH3 23416 broad.mit.edu 37 12 49948282 49948282 + Missense_Mutation SNP G G A TCGA-TN-A7HI-01A-11D-A34J-08 TCGA-TN-A7HI-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4c79dc7-ef60-45fe-b9e6-f662d4be6b65 7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4 g.chr12:49948282G>A ENST00000257981.6 + 11 2341 c.2081G>A c.(2080-2082)cGt>cAt p.R694H NM_012284.1 NP_036416.1 Q9ULD8 KCNH3_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 3 694 regulation of transcription, DNA-dependent integral to membrane two-component sensor activity|voltage-gated potassium channel activity NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 36 CGCTTCAGTCGTGGCCTCCGA 0.652000 30 66 0 0 1 0 0 SCN4A 6329 broad.mit.edu 37 17 62019186 62019186 + Missense_Mutation SNP C C T TCGA-TN-A7HI-01A-11D-A34J-08 TCGA-TN-A7HI-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4c79dc7-ef60-45fe-b9e6-f662d4be6b65 7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4 g.chr17:62019186C>T ENST00000435607.1 - 24 4532 c.4456G>A c.(4456-4458)Ggc>Agc p.G1486S SCN4A_ENST00000578147.1_Missense_Mutation_p.G1486S NM_000334.4 NP_000325.4 P35499 SCN4A_HUMAN sodium channel, voltage-gated, type IV, alpha subunit 1486 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 101 Lamotrigine(DB00555) AGGAGGAGGCCGATGTTGAAG 0.582000 15 44 0 0 1 0 0 LAMA3 3909 broad.mit.edu 37 18 21333768 21333768 + Silent SNP T T C TCGA-TN-A7HI-01A-11D-A34J-08 TCGA-TN-A7HI-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4c79dc7-ef60-45fe-b9e6-f662d4be6b65 7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4 g.chr18:21333768T>C ENST00000313654.9 + 6 1180 c.939T>C c.(937-939)ccT>ccC p.P313P LAMA3_ENST00000399516.3_Silent_p.P313P NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 313 Domain V.|Laminin EGF-like 1. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TAAACAATCCTGAAAAACTGT 0.368000 4 50 0 0 1 0 0 GLUD1P7 414212 broad.mit.edu 37 10 48968566 48968566 + RNA SNP A A G TCGA-TN-A7HI-01A-11D-A34J-08 TCGA-TN-A7HI-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4c79dc7-ef60-45fe-b9e6-f662d4be6b65 7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4 g.chr10:48968566A>G ENST00000594520.1 + 0 723 ACAGGATAACAAACTGGAAAA 0.318000 4 39 0 0 1 0 0 DOCK1 1793 broad.mit.edu 37 10 129172386 129172386 + Missense_Mutation SNP G G A TCGA-TN-A7HI-01A-11D-A34J-08 TCGA-TN-A7HI-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4c79dc7-ef60-45fe-b9e6-f662d4be6b65 7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4 g.chr10:129172386G>A ENST00000280333.6 + 35 3629 c.3520G>A c.(3520-3522)Gtt>Att p.V1174I NM_001380.3 NP_001371.1 Q14185 DOCK1_HUMAN dedicator of cytokinesis 1 1174 DHR-2. apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction cytosol|membrane GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 72 all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14) BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115) TGTAAAACTCGTTGTGCGCTT 0.423000 13 26 0 0 1 0 0 RNF213 57674 broad.mit.edu 37 17 78341825 78341825 + Missense_Mutation SNP G G A TCGA-TN-A7HI-01A-11D-A34J-08 TCGA-TN-A7HI-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4c79dc7-ef60-45fe-b9e6-f662d4be6b65 7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4 g.chr17:78341825G>A ENST00000582970.1 + 44 12180 c.12037G>A c.(12037-12039)Gac>Aac p.D4013N CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.D4062N|RNF213_ENST00000336301.6_Missense_Mutation_p.D2086N NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 0 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) TCTGCCCTGCGACCACGTGCA 0.562000 38 90 0 0 1 0 0 RNF5 6048 broad.mit.edu 37 6 32147865 32147865 + Missense_Mutation SNP C C T TCGA-TN-A7HI-01A-11D-A34J-08 TCGA-TN-A7HI-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4c79dc7-ef60-45fe-b9e6-f662d4be6b65 7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4 g.chr6:32147865C>T ENST00000427134.2 + 5 422 c.407C>T c.(406-408)aCc>aTc p.T136I RNF5_ENST00000375094.3_Missense_Mutation_p.T136I Q99942 RNF5_HUMAN ring finger protein 5, E3 ubiquitin protein ligase 136 ER-associated misfolded protein catabolic process|protein K48-linked ubiquitination|protein K63-linked ubiquitination endoplasmic reticulum membrane|integral to membrane|mitochondrial membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding p.T136I(3) endometrium(1)|lung(7)|urinary_tract(2) 10 TTTTTCACCACCGTCTTCAAT 0.557000 6 122 0 0 1 0 0 PLCB1 23236 broad.mit.edu 37 20 8741071 8741071 + Missense_Mutation SNP G G A TCGA-TN-A7HI-01A-11D-A34J-08 TCGA-TN-A7HI-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4c79dc7-ef60-45fe-b9e6-f662d4be6b65 7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4 g.chr20:8741071G>A ENST00000378641.3 + 25 3149 c.2674G>A c.(2674-2676)Gcc>Acc p.A892T PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378637.2_Missense_Mutation_p.A892T|PLCB1_ENST00000338037.6_Missense_Mutation_p.A892T NM_182734.1 NP_877398.1 Q9NQ66 PLCB1_HUMAN phospholipase C, beta 1 (phosphoinositide-specific) 892 activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95 AAAGGCACCTGCCAAAACAGA 0.358000 5 235 0 0 1 0 0 SRGAP1 57522 broad.mit.edu 37 12 64505656 64505656 + Silent SNP T T C TCGA-TN-A7HI-01A-11D-A34J-08 TCGA-TN-A7HI-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4c79dc7-ef60-45fe-b9e6-f662d4be6b65 7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4 g.chr12:64505656T>C ENST00000355086.3 + 17 2558 c.2034T>C c.(2032-2034)caT>caC p.H678H RP11-196H14.4_ENST00000535806.1_RNA|SRGAP1_ENST00000357825.3_Silent_p.H655H|SRGAP1_ENST00000543397.1_Silent_p.H615H NM_020762.2 NP_065813.1 Q7Z6B7 SRGP1_HUMAN SLIT-ROBO Rho GTPase activating protein 1 678 Rho-GAP. axon guidance cytosol breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 65 GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225) GBM - Glioblastoma multiforme(28;0.0608) GCCAGGCACATGTGAATGAAA 0.443000 8 139 0 0 1 0 0 HLA-A 3105 broad.mit.edu 37 6 29910607 29910607 + Silent SNP G G C rs72555397 TCGA-TN-A7HI-01A-11D-A34J-08 TCGA-TN-A7HI-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4c79dc7-ef60-45fe-b9e6-f662d4be6b65 7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4 g.chr6:29910607G>C ENST00000396634.1 + 4 488 c.147G>C c.(145-147)gtG>gtC p.V49V HLA-A_ENST00000376809.5_Silent_p.V49V|HLA-A_ENST00000376802.2_Silent_p.V49V|HLA-A_ENST00000376806.5_Silent_p.V49V P30443 1A01_HUMAN major histocompatibility complex, class I, A 49 Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity p.V49V(2) central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 30 TCATCGCCGTGGGCTACGTGG 0.692000 Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of Multiple Myeloma(9;0.094) 4 40 0 0 1 0 0 EPM2AIP1 9852 broad.mit.edu 37 3 37034286 37034286 + Missense_Mutation SNP C C T TCGA-TN-A7HI-01A-11D-A34J-08 TCGA-TN-A7HI-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4c79dc7-ef60-45fe-b9e6-f662d4be6b65 7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4 g.chr3:37034286C>T ENST00000322716.5 - 1 509 c.283G>A c.(283-285)Gag>Aag p.E95K NM_014805.3 NP_055620.1 Q7L775 EPMIP_HUMAN EPM2A (laforin) interacting protein 1 95 endoplasmic reticulum breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2) 27 GCAGCTCTCTCTTCAGGAGTG 0.652000 40 74 0 0 1 0 0 SFMBT2 57713 broad.mit.edu 37 10 7214537 7214537 + Missense_Mutation SNP G G A TCGA-TN-A7HI-01A-11D-A34J-08 TCGA-TN-A7HI-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4c79dc7-ef60-45fe-b9e6-f662d4be6b65 7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4 g.chr10:7214537G>A ENST00000361972.4 - 18 2161 c.2071C>T c.(2071-2073)Cgg>Tgg p.R691W SFMBT2_ENST00000397167.1_Missense_Mutation_p.R691W NM_001018039.1 NP_001018049.1 Q5VUG0 SMBT2_HUMAN Scm-like with four mbt domains 2 691 regulation of transcription, DNA-dependent nucleus p.R691W(2) NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 99 CGCTTCCTCCGCCTGGCGGGT 0.587000 9 22 0 0 1 0 0 BTN2A1 11120 broad.mit.edu 37 6 26458872 26458872 + Missense_Mutation SNP C C T TCGA-TN-A7HI-01A-11D-A34J-08 TCGA-TN-A7HI-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4c79dc7-ef60-45fe-b9e6-f662d4be6b65 7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4 g.chr6:26458872C>T ENST00000429381.1 + 2 220 c.8C>T c.(7-9)tCa>tTa p.S3L BTN2A1_ENST00000469185.1_Missense_Mutation_p.S3L|BTN2A1_ENST00000312541.5_Missense_Mutation_p.S3L|BTN2A1_ENST00000541522.1_Intron Q7KYR7 BT2A1_HUMAN butyrophilin, subfamily 2, member A1 3 lipid metabolic process integral to plasma membrane breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3) 27 CTCATGGAATCAGCTGCTGCC 0.622000 4 74 0 0 1 0 0 MROH2B 133558 broad.mit.edu 37 5 41019010 41019010 + Missense_Mutation SNP G G A TCGA-TN-A7HI-01A-11D-A34J-08 TCGA-TN-A7HI-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4c79dc7-ef60-45fe-b9e6-f662d4be6b65 7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4 g.chr5:41019010G>A ENST00000399564.4 - 25 3002 c.2552C>T c.(2551-2553)aCa>aTa p.T851I MROH2B_ENST00000506092.2_Missense_Mutation_p.T406I NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B GTCCTTGTCTGTCTGGCCTTC 0.507000 33 25 0 0 1 0 0 TBX2 6909 broad.mit.edu 37 17 59482066 59482066 + Silent SNP C C T TCGA-TN-A7HI-01A-11D-A34J-08 TCGA-TN-A7HI-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4c79dc7-ef60-45fe-b9e6-f662d4be6b65 7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4 g.chr17:59482066C>T ENST00000240328.3 + 5 1268 c.987C>T c.(985-987)ccC>ccT p.P329P RP11-332H18.4_ENST00000592009.1_RNA NM_005994.3 NP_005985.3 Q13207 TBX2_HUMAN T-box 2 329 cell aging|positive regulation of cell proliferation sequence-specific DNA binding endometrium(1)|lung(7)|ovary(1) 9 ACCCTCCCCCCGCGCGGGAAC 0.726000 6 6 0 0 1 0 0 UMODL1 89766 broad.mit.edu 37 21 43531784 43531784 + Missense_Mutation SNP A A C TCGA-TN-A7HI-01A-11D-A34J-08 TCGA-TN-A7HI-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4c79dc7-ef60-45fe-b9e6-f662d4be6b65 7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4 g.chr21:43531784A>C ENST00000400427.1 + 11 2632 c.2236A>C c.(2236-2238)Acc>Ccc p.T746P UMODL1_ENST00000400424.1_Missense_Mutation_p.T618P|UMODL1_ENST00000408989.2_Missense_Mutation_p.T818P|UMODL1_ENST00000408910.2_Missense_Mutation_p.T690P NM_001199527.1 NP_001186456.1 Q5DID0 UROL1_HUMAN uromodulin-like 1 734 Fibronectin type-III 2. cytoplasm|extracellular region|integral to membrane|plasma membrane calcium ion binding|peptidase inhibitor activity breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 47 CCTGCCATTGACCTCCACCCT 0.582000 6 39 0 0 1 0 0 PREX1 57580 broad.mit.edu 37 20 47251276 47251276 + Missense_Mutation SNP G G A TCGA-TN-A7HI-01A-11D-A34J-08 TCGA-TN-A7HI-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4c79dc7-ef60-45fe-b9e6-f662d4be6b65 7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4 g.chr20:47251276G>A ENST00000396220.1 - 33 4227 c.4205C>T c.(4204-4206)aCg>aTg p.T1402M PREX1_ENST00000371941.3_Missense_Mutation_p.T1402M Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 1402 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) CTCTGACAGCGTCACCCAGAT 0.562000 40 66 0 0 1 0 0 FOXF1 2294 broad.mit.edu 37 16 86544260 86544260 + Missense_Mutation SNP G G A TCGA-TN-A7HI-01A-11D-A34J-08 TCGA-TN-A7HI-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4c79dc7-ef60-45fe-b9e6-f662d4be6b65 7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4 g.chr16:86544260G>A ENST00000262426.4 + 1 128 c.85G>A c.(85-87)Gcg>Acg p.A29T NM_001451.2 NP_001442.2 Q12946 FOXF1_HUMAN forkhead box F1 29 branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1) 12 CATGGACCCCGCGTCGTCCGG 0.736000 11 13 0 0 1 0 0 TGM2 7052 broad.mit.edu 37 20 36775191 36775191 + Missense_Mutation SNP G G A TCGA-TN-A7HI-01A-11D-A34J-08 TCGA-TN-A7HI-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4c79dc7-ef60-45fe-b9e6-f662d4be6b65 7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4 g.chr20:36775191G>A ENST00000361475.2 - 6 960 c.787C>T c.(787-789)Cgc>Tgc p.R263C TGM2_ENST00000536724.1_Missense_Mutation_p.R203C|TGM2_ENST00000536701.1_Missense_Mutation_p.R182C NM_004613.2|NM_198951.1 NP_004604.2|NP_945189.1 P21980 TGM2_HUMAN transglutaminase 2 263 apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Myeloproliferative disorder(115;0.00878) L-Glutamine(DB00130) TTCTTCCAGCGCCGCAGGATG 0.652000 12 67 0 0 1 0 0 NAA15 80155 broad.mit.edu 37 4 140291481 140291481 + Nonsense_Mutation SNP C C T TCGA-TN-A7HI-01A-11D-A34J-08 TCGA-TN-A7HI-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4c79dc7-ef60-45fe-b9e6-f662d4be6b65 7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4 g.chr4:140291481C>T ENST00000296543.5 + 15 2193 c.1870C>T c.(1870-1872)Cag>Tag p.Q624* NAA15_ENST00000398947.1_Nonsense_Mutation_p.Q624* NM_057175.3 NP_476516.1 Q9BXJ9 NAA15_HUMAN N(alpha)-acetyltransferase 15, NatA auxiliary subunit 624 angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|transcription factor complex protein binding NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 gcagagaaatcagaaaaagaa 0.358000 21 32 0 0 1 0 0 CAPN1 823 broad.mit.edu 37 11 64978326 64978326 + Missense_Mutation SNP A A G TCGA-TN-A7HI-01A-11D-A34J-08 TCGA-TN-A7HI-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4c79dc7-ef60-45fe-b9e6-f662d4be6b65 7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4 g.chr11:64978326A>G ENST00000527323.1 + 20 2341 c.2101A>G c.(2101-2103)Acc>Gcc p.T701A CAPN1_ENST00000533129.1_Missense_Mutation_p.T701A|CAPN1_ENST00000533820.1_Missense_Mutation_p.T701A|CAPN1_ENST00000524773.1_Missense_Mutation_p.T701A|CAPN1_ENST00000279247.6_Missense_Mutation_p.T701A P07384 CAN1_HUMAN calpain 1, (mu/I) large subunit 701 Domain IV.|EF-hand 4. positive regulation of cell proliferation|proteolysis cytoplasm|plasma membrane calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1) 13 Lung NSC(402;0.094)|Melanoma(852;0.16) Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813) TGGAGTTGTGACCTTTGACTT 0.483000 24 51 0 0 1 0 0 RGS20 8601 broad.mit.edu 37 8 54859258 54859258 + Silent SNP C C T TCGA-TN-A7HI-01A-11D-A34J-08 TCGA-TN-A7HI-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4c79dc7-ef60-45fe-b9e6-f662d4be6b65 7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4 g.chr8:54859258C>T ENST00000297313.3 + 4 785 c.693C>T c.(691-693)ccC>ccT p.P231P RGS20_ENST00000517405.1_3'UTR|RGS20_ENST00000522225.1_5'UTR|RGS20_ENST00000276500.4_Silent_p.P84P|RGS20_ENST00000344277.6_Silent_p.P116P NM_170587.2 NP_733466.1 O76081 RGS20_HUMAN regulator of G-protein signaling 20 231 negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|nucleus|plasma membrane GTPase activator activity|protein binding|signal transducer activity breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009) ATCAGAGGCCCACAATAGCTT 0.403000 29 163 0 0 1 0 0 TRGV5 6978 broad.mit.edu 37 7 38388960 38388960 + RNA SNP T T C TCGA-TN-A7HI-01A-11D-A34J-08 TCGA-TN-A7HI-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4c79dc7-ef60-45fe-b9e6-f662d4be6b65 7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4 g.chr7:38388960T>C ENST00000390344.2 - 0 547 ACTGTGCCTGTCCCAGGTGGC 0.478000 4 74 0 0 1 0 0 RBL1 5933 broad.mit.edu 37 20 35635822 35635822 + Missense_Mutation SNP C C T TCGA-TN-A7HI-01A-11D-A34J-08 TCGA-TN-A7HI-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4c79dc7-ef60-45fe-b9e6-f662d4be6b65 7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4 g.chr20:35635822C>T ENST00000373664.3 - 20 2929 c.2863G>A c.(2863-2865)Gac>Aac p.D955N RBL1_ENST00000344359.3_Missense_Mutation_p.D955N NM_002895.2 NP_002886.2 P28749 RBL1_HUMAN retinoblastoma-like 1 (p107) 955 cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent transcription factor binding NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 42 Myeloproliferative disorder(115;0.00878) ACCATATGGTCCTGATTCGCC 0.303000 33 142 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128792 45128792 + RNA SNP G G T rs143713325 by1000genomes TCGA-TN-A7HI-01A-11D-A34J-08 TCGA-TN-A7HI-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4c79dc7-ef60-45fe-b9e6-f662d4be6b65 7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4 g.chr17:45128792G>T ENST00000575173.1 - 0 418 AATTCAGGTTGTCAGAATGCA 0.373000 4 81 0.00024832 0.000250779 1 1 0 SLC1A7 6512 broad.mit.edu 37 1 53600102 53600102 + Splice_Site SNP C C T TCGA-TN-A7HI-01A-11D-A34J-08 TCGA-TN-A7HI-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4c79dc7-ef60-45fe-b9e6-f662d4be6b65 7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4 g.chr1:53600102C>T ENST00000371494.4 - 2 263 c.e2-1 SLC1A7_ENST00000371491.4_Splice_Site NM_006671.4 NP_006662.3 O00341 EAA5_HUMAN solute carrier family 1 (glutamate transporter), member 7 integral to membrane|plasma membrane high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1) 26 Colorectal(1306;0.234) L-Glutamic Acid(DB00142) AACTAATTTCCTGAAAACACA 0.502000 8 23 0 0 1 0 0 SETD7 80854 broad.mit.edu 37 4 140441448 140441448 + Nonsense_Mutation SNP G G A TCGA-TN-A7HI-01A-11D-A34J-08 TCGA-TN-A7HI-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4c79dc7-ef60-45fe-b9e6-f662d4be6b65 7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4 g.chr4:140441448G>A ENST00000274031.3 - 6 1381 c.745C>T c.(745-747)Cga>Tga p.R249* SETD7_ENST00000506866.2_Nonsense_Mutation_p.R249* NM_030648.2 NP_085151.1 Q8WTS6 SETD7_HUMAN SET domain containing (lysine methyltransferase) 7 249 SET. peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus histone-lysine N-methyltransferase activity|p53 binding central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1) 8 all_hematologic(180;0.156) TGTGTAATTCGAACTCCATTA 0.398000 4 92 0 0 1 0 0 DUSP14 11072 broad.mit.edu 37 17 35872745 35872745 + Missense_Mutation SNP C C T TCGA-TN-A7HI-01A-11D-A34J-08 TCGA-TN-A7HI-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4c79dc7-ef60-45fe-b9e6-f662d4be6b65 7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4 g.chr17:35872745C>T ENST00000487847.1 + 2 1349 c.371C>T c.(370-372)gCg>gTg p.A124V DUSP14_ENST00000394386.1_Missense_Mutation_p.A124V|DUSP14_ENST00000394389.4_Missense_Mutation_p.A124V O95147 DUS14_HUMAN dual specificity phosphatase 14 124 Tyrosine-protein phosphatase. MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|urinary_tract(1) 9 Breast(25;0.00637)|Ovarian(249;0.15) CTGTGTATCGCGTACCTGATG 0.602000 22 27 0 0 1 0 0 OR52N4 390072 broad.mit.edu 37 11 5776794 5776794 + Missense_Mutation SNP G G T TCGA-TN-A7HI-01A-11D-A34J-08 TCGA-TN-A7HI-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4c79dc7-ef60-45fe-b9e6-f662d4be6b65 7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4 g.chr11:5776794G>T ENST00000317254.3 + 1 872 c.824G>T c.(823-825)tGc>tTc p.C275F TRIM5_ENST00000380027.1_Intron NM_001005175.2 NP_001005175.3 Q8NGI2 O52N4_HUMAN olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene) 275 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197) CCCCCTTCTTGCCACATCATT 0.458000 31 93 2.70662e-09 2.84614e-09 1 1 0 PDLIM2 64236 broad.mit.edu 37 8 22449070 22449070 + Missense_Mutation SNP C C T TCGA-TN-A7HI-01A-11D-A34J-08 TCGA-TN-A7HI-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4c79dc7-ef60-45fe-b9e6-f662d4be6b65 7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4 g.chr8:22449070C>T ENST00000265810.4 + 8 885 c.770C>T c.(769-771)aCg>aTg p.T257M PDLIM2_ENST00000409417.1_Missense_Mutation_p.T257M|AC037459.4_ENST00000430850.2_Missense_Mutation_p.T51M|PDLIM2_ENST00000308354.7_Missense_Mutation_p.T507M|PDLIM2_ENST00000409141.1_Intron|PDLIM2_ENST00000397760.4_Missense_Mutation_p.T257M|PDLIM2_ENST00000397761.2_Missense_Mutation_p.T257M|PDLIM2_ENST00000448520.1_3'UTR|PDLIM2_ENST00000339162.7_Intron NM_176871.3 NP_789847.1 Q96JY6 PDLI2_HUMAN PDZ and LIM domain 2 (mystique) 257 actin cytoskeleton|cell surface|cytoplasm|focal adhesion|nucleus zinc ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1) 9 Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142) BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626) CCAGGTGGCACGCCAGCCTTC 0.632000 9 62 0 0 1 0 0 RRP1 8568 broad.mit.edu 37 21 45213265 45213265 + Missense_Mutation SNP C C T TCGA-TN-A7HI-01A-11D-A34J-08 TCGA-TN-A7HI-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4c79dc7-ef60-45fe-b9e6-f662d4be6b65 7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4 g.chr21:45213265C>T ENST00000497547.1 + 4 457 c.340C>T c.(340-342)Cgc>Tgc p.R114C NM_003683.5 NP_003674.1 P56182 RRP1_HUMAN ribosomal RNA processing 1 114 rRNA processing nucleolus|preribosome, small subunit precursor central_nervous_system(1)|kidney(1)|lung(4)|stomach(2) 8 COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171) TGACAGGCTGCGCCTGGATAA 0.622000 5 175 0 0 1 0 0 OTC 5009 broad.mit.edu 37 X 38240682 38240682 + Splice_Site SNP G G A rs66656800 TCGA-TN-A7HI-01A-11D-A34J-08 TCGA-TN-A7HI-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4c79dc7-ef60-45fe-b9e6-f662d4be6b65 7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4 g.chrX:38240682G>A ENST00000039007.4 + 4 538 c.386_splice c.e4+1 p.R129_splice TM4SF2_ENST00000465127.1_Intron|OTC_ENST00000488812.1_3'UTR NM_000531.5 NP_000522.3 P00480 OTC_HUMAN ornithine carbamoyltransferase 129 R -> H (in OTCD; 2.1% of wild-type activity; early onset). arginine biosynthetic process|urea cycle mitochondrial matrix|ornithine carbamoyltransferase complex ornithine carbamoyltransferase activity breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 22 L-Citrulline(DB00155)|L-Ornithine(DB00129) GACACGGCCCGGTTTGTAAAT 0.348000 27 26 0 0 1 0 0 GRM6 2916 broad.mit.edu 37 5 178413498 178413498 + Missense_Mutation SNP G G T TCGA-TN-A7HI-01A-11D-A34J-08 TCGA-TN-A7HI-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4c79dc7-ef60-45fe-b9e6-f662d4be6b65 7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4 g.chr5:178413498G>T ENST00000231188.5 - 8 1935 c.1757C>A c.(1756-1758)gCa>gAa p.A586E GRM6_ENST00000517717.1_Missense_Mutation_p.A586E|RP11-281O15.4_ENST00000519491.1_RNA NM_000843.3 NP_000834.2 O15303 GRM6_HUMAN glutamate receptor, metabotropic 6 586 detection of visible light|visual perception integral to plasma membrane NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 55 all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.245) CGGCGGGGCTGCCCAGGGGGA 0.701000 14 13 0.000151284 0.00015431 1 1 0 DNAJC14 85406 broad.mit.edu 37 12 56221340 56221340 + Missense_Mutation SNP C C A TCGA-TN-A7HI-01A-11D-A34J-08 TCGA-TN-A7HI-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4c79dc7-ef60-45fe-b9e6-f662d4be6b65 7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4 g.chr12:56221340C>A ENST00000357606.3 - 3 1392 c.1103G>T c.(1102-1104)tGg>tTg p.W368L DNAJC14_ENST00000317269.3_Missense_Mutation_p.W368L|DNAJC14_ENST00000317287.5_Missense_Mutation_p.W368L Q6Y2X3 DJC14_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 14 368 protein folding|protein transport endoplasmic reticulum membrane|integral to membrane heat shock protein binding|unfolded protein binding breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1) 23 AGAATCCAGCCAAGAGAAGAG 0.562000 28 107 4.4194e-11 4.74504e-11 1 1 0 ABCA6 23460 broad.mit.edu 37 17 67132233 67132233 + Missense_Mutation SNP C C A TCGA-TN-A7HI-01A-11D-A34J-08 TCGA-TN-A7HI-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4c79dc7-ef60-45fe-b9e6-f662d4be6b65 7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4 g.chr17:67132233C>A ENST00000590645.1 - 4 648 c.460G>T c.(460-462)Ggt>Tgt p.G154C ABCA6_ENST00000284425.2_Splice_Site_p.A154_splice Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A (ABC1), member 6 0 transport integral to membrane ATP binding|ATPase activity breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 82 Breast(10;5.65e-12) GGAAAGTCACCTGAGAAATCT 0.328000 20 42 1.56452e-12 1.69767e-12 1 1 0 KCNB2 9312 broad.mit.edu 37 8 73480508 73480508 + Missense_Mutation SNP G G T TCGA-TN-A7HI-01A-11D-A34J-08 TCGA-TN-A7HI-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4c79dc7-ef60-45fe-b9e6-f662d4be6b65 7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4 g.chr8:73480508G>T ENST00000523207.1 + 2 1127 c.539G>T c.(538-540)tGg>tTg p.W180L NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 180 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) AAGAAACTGTGGGACTTGCTG 0.463000 37 232 9.8876e-21 1.09623e-20 1 1 0 PCDH15 65217 broad.mit.edu 37 10 55617002 55617002 + Missense_Mutation SNP C C G TCGA-TN-A7HI-01A-11D-A34J-08 TCGA-TN-A7HI-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4c79dc7-ef60-45fe-b9e6-f662d4be6b65 7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4 g.chr10:55617002C>G ENST00000373965.2 - 29 4154 c.3760G>C c.(3760-3762)Gat>Cat p.D1254H PCDH15_ENST00000320301.6_Missense_Mutation_p.D1247H|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.D1247H|PCDH15_ENST00000395430.1_Missense_Mutation_p.D1247H|PCDH15_ENST00000361849.3_Missense_Mutation_p.D1247H|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395445.1_Missense_Mutation_p.D1254H|PCDH15_ENST00000395433.1_Missense_Mutation_p.D1225H|PCDH15_ENST00000414778.1_Missense_Mutation_p.D1252H|PCDH15_ENST00000437009.1_Missense_Mutation_p.D1176H|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.D858H|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.D1210H NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1247 Cadherin 11. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) ACTTGCATATCCAGCTGATTG 0.333000 HNSCC(58;0.16) 35 85 0 0 1 0 0 FRG1BP 284802 broad.mit.edu 37 20 29628245 29628245 + Missense_Mutation SNP G G A TCGA-TN-A7HI-01A-11D-A34J-08 TCGA-TN-A7HI-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4c79dc7-ef60-45fe-b9e6-f662d4be6b65 7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4 g.chr20:29628245G>A ENST00000278882.3 + 6 627 c.247G>A c.(247-249)Gcc>Acc p.A83T FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T p.A83T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGCTTTGTTGGCCTCAAATAG 0.353000 5 236 0 0 1 0 0 DNAJC14 85406 broad.mit.edu 37 12 56221331 56221331 + Missense_Mutation SNP G G C TCGA-TN-A7HI-01A-11D-A34J-08 TCGA-TN-A7HI-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4c79dc7-ef60-45fe-b9e6-f662d4be6b65 7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4 g.chr12:56221331G>C ENST00000357606.3 - 3 1401 c.1112C>G c.(1111-1113)tCt>tGt p.S371C DNAJC14_ENST00000317269.3_Missense_Mutation_p.S371C|DNAJC14_ENST00000317287.5_Missense_Mutation_p.S371C Q6Y2X3 DJC14_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 14 371 protein folding|protein transport endoplasmic reticulum membrane|integral to membrane heat shock protein binding|unfolded protein binding breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1) 23 CAAGGCTGGAGAATCCAGCCA 0.557000 30 105 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77768233 77768233 + Missense_Mutation SNP A A T TCGA-TN-A7HI-01A-11D-A34J-08 TCGA-TN-A7HI-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4c79dc7-ef60-45fe-b9e6-f662d4be6b65 7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4 g.chr8:77768233A>T ENST00000521891.2 + 10 9524 c.9076A>T c.(9076-9078)Att>Ttt p.I3026F ZFHX4_ENST00000518282.1_Missense_Mutation_p.I3000F|ZFHX4_ENST00000050961.6_Missense_Mutation_p.I2981F|ZFHX4_ENST00000455469.2_Missense_Mutation_p.I2981F NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2981 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) CAGAGATCACATTTTCTCCAA 0.522000 HNSCC(33;0.089) 10 111 0 0 1 0 0 SIPA1L3 23094 broad.mit.edu 37 19 38573489 38573489 + Silent SNP G G A TCGA-TN-A7HI-01A-11D-A34J-08 TCGA-TN-A7HI-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4c79dc7-ef60-45fe-b9e6-f662d4be6b65 7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4 g.chr19:38573489G>A ENST00000222345.6 + 3 1793 c.1284G>A c.(1282-1284)ccG>ccA p.P428P NM_015073.1 NP_055888.1 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 3 428 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3) 59 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) TCAGCTGCCCGCACTTCCGCA 0.647000 6 112 0 0 1 0 0 SDC3 9672 broad.mit.edu 37 1 31346159 31346159 + Missense_Mutation SNP G G A TCGA-TN-A7HI-01A-11D-A34J-08 TCGA-TN-A7HI-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4c79dc7-ef60-45fe-b9e6-f662d4be6b65 7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4 g.chr1:31346159G>A ENST00000336798.7 - 3 2546 c.1054C>T c.(1054-1056)Cgt>Tgt p.R352C SDC3_ENST00000339394.6_Missense_Mutation_p.R410C O75056 SDC3_HUMAN syndecan 3 410 integral to membrane cytoskeletal protein binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151) STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649) TTCTTCATACGATAGATGAGC 0.562000 31 44 0 0 1 0 0 RASGRP3 25780 broad.mit.edu 37 2 33774800 33774800 + Silent SNP C C T TCGA-TN-A7HI-01A-11D-A34J-08 TCGA-TN-A7HI-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4c79dc7-ef60-45fe-b9e6-f662d4be6b65 7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4 g.chr2:33774800C>T ENST00000403687.3 + 14 2264 c.1524C>T c.(1522-1524)tgC>tgT p.C508C RASGRP3_ENST00000407811.1_Silent_p.C507C|RASGRP3_ENST00000402538.3_Silent_p.C508C NM_001139488.1 NP_001132960.1 Q8IV61 GRP3_HUMAN RAS guanyl releasing protein 3 (calcium and DAG-regulated) 508 MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2) 11 all_hematologic(175;0.115) CAACCTTCTGCGAACACTGTG 0.388000 10 28 0 0 1 0 0 MDN1 23195 broad.mit.edu 37 6 90455081 90455081 + Silent SNP G G A TCGA-TN-A7HI-01A-11D-A34J-08 TCGA-TN-A7HI-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4c79dc7-ef60-45fe-b9e6-f662d4be6b65 7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4 g.chr6:90455081G>A ENST00000369393.3 - 29 4204 c.4089C>T c.(4087-4089)atC>atT p.I1363I MDN1_ENST00000428876.1_Silent_p.I1363I Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 1363 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) CAGTCCACACGATATGGCCAA 0.433000 35 69 0 0 1 0 0 IL9 3578 broad.mit.edu 37 5 135229825 135229825 + Missense_Mutation SNP G G C TCGA-TN-A7HI-01A-11D-A34J-08 TCGA-TN-A7HI-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4c79dc7-ef60-45fe-b9e6-f662d4be6b65 7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4 g.chr5:135229825G>C ENST00000274520.1 - 4 209 c.199C>G c.(199-201)Cca>Gca p.P67A NM_000590.1 NP_000581.1 P15248 IL9_HUMAN interleukin 9 67 immune response|inflammatory response|positive regulation of cell proliferation|positive regulation of interleukin-5 biosynthetic process extracellular space cytokine activity|cytokine receptor binding|growth factor activity large_intestine(3)|lung(2)|pancreas(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CTGAAGCATGGTCTGGTGCAG 0.373000 4 59 0 0 1 0 0 NLRP13 126204 broad.mit.edu 37 19 56424579 56424579 + Missense_Mutation SNP C C T TCGA-TN-A7HI-01A-11D-A34J-08 TCGA-TN-A7HI-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4c79dc7-ef60-45fe-b9e6-f662d4be6b65 7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4 g.chr19:56424579C>T ENST00000588751.1 - 5 628 c.604G>A c.(604-606)Gta>Ata p.V202I NLRP13_ENST00000342929.3_Missense_Mutation_p.V202I Q86W25 NAL13_HUMAN NLR family, pyrin domain containing 13 202 ATP binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) CGGATATATACGTGGTCTTTA 0.498000 8 191 0 0 1 0 0 CD47 961 broad.mit.edu 37 3 107799072 107799072 + Missense_Mutation SNP C C T TCGA-TN-A7HI-01A-11D-A34J-08 TCGA-TN-A7HI-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4c79dc7-ef60-45fe-b9e6-f662d4be6b65 7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4 g.chr3:107799072C>T ENST00000355354.7 - 2 282 c.166G>A c.(166-168)Gta>Ata p.V56I CD47_ENST00000361309.5_Missense_Mutation_p.V56I NM_198793.2 NP_942088.1 Q08722 CD47_HUMAN CD47 molecule 56 Ig-like V-type. blood coagulation|cell adhesion|cell junction assembly|integrin-mediated signaling pathway|leukocyte migration|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation integral to plasma membrane protein binding|thrombospondin receptor activity endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1) 9 OV - Ovarian serous cystadenocarcinoma(3;0.0191)|Epithelial(53;0.118) TTCCACTTTACGTATACTTCA 0.353000 35 123 0 0 1 0 0 ZFYVE26 23503 broad.mit.edu 37 14 68249661 68249661 + Missense_Mutation SNP C C T TCGA-TN-A7HI-01A-11D-A34J-08 TCGA-TN-A7HI-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4c79dc7-ef60-45fe-b9e6-f662d4be6b65 7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4 g.chr14:68249661C>T ENST00000347230.4 - 21 4346 c.4208G>A c.(4207-4209)gGc>gAc p.G1403D ZFYVE26_ENST00000555452.1_Missense_Mutation_p.G1403D NM_015346.3 NP_056161.2 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 1403 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 94 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) AGAATGTAGGCCCAGGAGAAC 0.577000 40 85 0 0 1 0 0 VLDLR 7436 broad.mit.edu 37 9 2643960 2643960 + Splice_Site SNP G G A TCGA-TN-A7HI-01A-11D-A34J-08 TCGA-TN-A7HI-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4c79dc7-ef60-45fe-b9e6-f662d4be6b65 7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4 g.chr9:2643960G>A ENST00000382100.2 + 7 1422 c.e7+1 VLDLR_ENST00000382099.2_Splice_Site NM_003383.3 NP_003374.3 P98155 VLDLR_HUMAN very low density lipoprotein receptor cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 24 GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123) AAAGAGTGTCGTAAGTGTACT 0.448000 35 123 0 0 1 0 0 AKAP3 10566 broad.mit.edu 37 12 4735810 4735810 + Missense_Mutation SNP G G A TCGA-TN-A7HI-01A-11D-A34J-08 TCGA-TN-A7HI-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4c79dc7-ef60-45fe-b9e6-f662d4be6b65 7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4 g.chr12:4735810G>A ENST00000545990.2 - 5 2782 c.2258C>T c.(2257-2259)gCa>gTa p.A753V AKAP3_ENST00000228850.1_Missense_Mutation_p.A753V NM_001278309.1 NP_001265238.1 O75969 AKAP3_HUMAN A kinase (PRKA) anchor protein 3 753 acrosome reaction|cellular component movement acrosomal vesicle protein kinase A binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 51 CGTGGGTGCTGCACACCCTTC 0.527000 4 138 0 0 1 0 0 PRDX2 7001 broad.mit.edu 37 19 12907963 12907963 + Missense_Mutation SNP T T C TCGA-TN-A7HI-01A-11D-A34J-08 TCGA-TN-A7HI-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4c79dc7-ef60-45fe-b9e6-f662d4be6b65 7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4 g.chr19:12907963T>C ENST00000301522.2 - 6 657 c.529A>G c.(529-531)Aag>Gag p.K177E CTD-2659N19.10_ENST00000585496.1_RNA|PRDX2_ENST00000334482.5_Missense_Mutation_p.E133G NM_005809.4 NP_005800.3 P32119 PRDX2_HUMAN peroxiredoxin 2 177 anti-apoptosis|cell redox homeostasis|hydrogen peroxide catabolic process|removal of superoxide radicals thioredoxin peroxidase activity endometrium(1)|large_intestine(1)|lung(1)|prostate(1) 4 CTGCCAGGCTTCCAGCCAGCG 0.522000 OREG0025274 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 46 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195512606 195512606 + Missense_Mutation SNP G G C TCGA-TN-A7HI-01A-11D-A34J-08 TCGA-TN-A7HI-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4c79dc7-ef60-45fe-b9e6-f662d4be6b65 7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4 g.chr3:195512606G>C ENST00000463781.3 - 2 6304 c.5845C>G c.(5845-5847)Cac>Gac p.H1949D MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H1949D NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 709 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GGGGTGGTGTGACCTGAGGAT 0.597000 3 5 0 0 1 0 0 TTI2 80185 broad.mit.edu 37 8 33356711 33356711 + Missense_Mutation SNP C C T rs139842383 TCGA-TN-A7HI-01A-11D-A34J-08 TCGA-TN-A7HI-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4c79dc7-ef60-45fe-b9e6-f662d4be6b65 7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4 g.chr8:33356711C>T ENST00000431156.2 - 8 2125 c.1507G>A c.(1507-1509)Gca>Aca p.A503T MAK16_ENST00000360128.6_3'UTR|TTI2_ENST00000519356.1_Intron|TTI2_ENST00000360742.5_Missense_Mutation_p.A503T|TTI2_ENST00000520636.1_Missense_Mutation_p.A472T NM_001102401.2 NP_001095871.1 Q6NXR4 CH041_HUMAN TELO2 interacting protein 2 503 binding TTGTAGGGTGCGCCTTCAGAA 0.398000 15 112 0 0 1 0 0 ZNF658 26149 broad.mit.edu 37 9 40774444 40774444 + Silent SNP T T C TCGA-TN-A7HI-01A-11D-A34J-08 TCGA-TN-A7HI-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4c79dc7-ef60-45fe-b9e6-f662d4be6b65 7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4 g.chr9:40774444T>C ENST00000602553.1 - 5 1125 c.831A>G c.(829-831)acA>acG p.T277T ZNF658_ENST00000441795.1_Silent_p.T275T|ZNF658_ENST00000377626.3_Silent_p.T277T Q5TYW1 ZN658_HUMAN zinc finger protein 658 277 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 46 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) TGTCACAGGATGTCCCATATT 0.363000 5 451 0 0 1 0 0 TRPV5 56302 broad.mit.edu 37 7 142605775 142605775 + Nonsense_Mutation SNP G G A TCGA-TN-A7HI-01A-11D-A34J-08 TCGA-TN-A7HI-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4c79dc7-ef60-45fe-b9e6-f662d4be6b65 7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4 g.chr7:142605775G>A ENST00000265310.1 - 15 2443 c.2095C>T c.(2095-2097)Cga>Tga p.R699* NM_019841.4 NP_062815.2 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, subfamily V, member 5 699 protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 67 Melanoma(164;0.059) TCCCAGCCTCGGTGACTGCTG 0.562000 22 44 0 0 1 0 0 ADRA1D 146 broad.mit.edu 37 20 4229106 4229106 + Missense_Mutation SNP C C T TCGA-TN-A7HI-01A-11D-A34J-08 TCGA-TN-A7HI-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4c79dc7-ef60-45fe-b9e6-f662d4be6b65 7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4 g.chr20:4229106C>T ENST00000379453.4 - 1 615 c.499G>A c.(499-501)Gcc>Acc p.A167T NM_000678.3 NP_000669.1 P25100 ADA1D_HUMAN adrenoceptor alpha 1D 167 cell proliferation|cell-cell signaling|DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|multicellular organismal development|positive regulation of cell proliferation integral to plasma membrane alpha1-adrenergic receptor activity endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 14 Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162) TCGCAGAAGGCGCGGCCAAAG 0.667000 6 33 0 0 1 0 0 KCNAB2 8514 broad.mit.edu 37 1 6156814 6156814 + Frame_Shift_Del DEL T T - TCGA-TN-A7HI-01A-11D-A34J-08 TCGA-TN-A7HI-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4c79dc7-ef60-45fe-b9e6-f662d4be6b65 7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4 g.chr1:6156814delT ENST00000164247.1 + 14 1487 c.923delT c.(922-924)aafs p.I308fs KCNAB2_ENST00000378111.1_Intron|KCNAB2_ENST00000378092.1_Frame_Shift_Del_p.I294fs|KCNAB2_ENST00000378083.3_Frame_Shift_Del_p.I356fs|KCNAB2_ENST00000378097.1_Frame_Shift_Del_p.I308fs|KCNAB2_ENST00000602612.1_Frame_Shift_Del_p.I308fs|KCNAB2_ENST00000378087.3_Intron|KCNAB2_ENST00000352527.1_Frame_Shift_Del_p.I294fs|KCNAB2_ENST00000341524.1_Frame_Shift_Del_p.I308fs|KCNAB2_ENST00000458166.2_Frame_Shift_Del_p.I241fs NM_001199860.1 NP_001186789.1 Q13303 KCAB2_HUMAN potassium voltage-gated channel, shaker-related subfamily, beta member 2 308 cytoplasm|integral to membrane|juxtaparanode region of axon oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity large_intestine(1)|lung(4)|skin(3) 8 Ovarian(185;0.0634) all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211) Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649) CAGCTGGCCATAGGTAACGGT 0.682 2 4 --- --- --- --- IGKV1D-8 28904 broad.mit.edu 37 2 90259860 90259861 + RNA INS - - C TCGA-TN-A7HI-01A-11D-A34J-08 TCGA-TN-A7HI-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4c79dc7-ef60-45fe-b9e6-f662d4be6b65 7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4 g.chr2:90259860_90259861insC ENST00000471857.1 + 0 236 AATTTACTCAGCCAATGTGCTC 0.480 7 208 --- --- --- --- SPEF2 79925 broad.mit.edu 37 5 35771703 35771710 + Splice_Site DEL GCAACCAG GCAACCAG - rs138022749 by1000genomes TCGA-TN-A7HI-01A-11D-A34J-08 TCGA-TN-A7HI-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4c79dc7-ef60-45fe-b9e6-f662d4be6b65 7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4 g.chr5:35771703_35771710delGCAACCAG ENST00000440995.2 + 27 3786 c.e27-1 CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Splice_Site Q9C093 SPEF2_HUMAN sperm flagellar 2 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TTGCTGTTACGCAACCAGGTGGCTGCTG 0.375 9 75 --- --- --- --- MYBL1 4603 broad.mit.edu 37 8 67488453 67488453 + Frame_Shift_Del DEL T T - TCGA-TN-A7HI-01A-11D-A34J-08 TCGA-TN-A7HI-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4c79dc7-ef60-45fe-b9e6-f662d4be6b65 7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4 g.chr8:67488453delT ENST00000522677.3 - 10 1669 c.1259delA c.(1258-1260)acfs p.N420fs MYBL1_ENST00000517885.1_Intron|MYBL1_ENST00000524176.2_Frame_Shift_Del_p.N420fs NM_001080416.2|NM_001144755.1 NP_001073885.1|NP_001138227.1 P10243 MYBA_HUMAN v-myb avian myeloblastosis viral oncogene homolog-like 1 420 Negative regulatory domain (By similarity). positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1) 25 Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938) ATTACAAGTGTTTTTTTTCCC 0.403 8 443 --- --- --- --- AC124997.1 0 broad.mit.edu 37 15 25773086 25773088 + RNA DEL GGT GGT - TCGA-TN-A7HI-01A-11D-A34J-08 TCGA-TN-A7HI-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4c79dc7-ef60-45fe-b9e6-f662d4be6b65 7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4 g.chr15:25773086_25773088delGGT ENST00000422117.1 - 0 167 TGGTATTTGAggtggtggtggtg 0.542 2 4 --- --- --- --- MTMR10 54893 broad.mit.edu 37 15 31245804 31245804 + Frame_Shift_Del DEL A A - TCGA-TN-A7HI-01A-11D-A34J-08 TCGA-TN-A7HI-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4c79dc7-ef60-45fe-b9e6-f662d4be6b65 7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4 g.chr15:31245804delA ENST00000435680.1 - 11 1194 c.1097delT c.(1096-1098)tafs p.L366fs MTMR10_ENST00000563714.1_Frame_Shift_Del_p.L284fs|MTMR10_ENST00000425768.1_3'UTR|MTMR10_ENST00000314404.8_Frame_Shift_Del_p.L118fs NM_017762.2 NP_060232.2 Q9NXD2 MTMRA_HUMAN myotubularin related protein 10 366 Myotubularin phosphatase. phosphatase activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1) 9 all_lung(180;2.81e-11) all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174) CAGTGAAGATAACCATTTCTC 0.284 2 4 --- --- --- --- CACNA1H 8912 broad.mit.edu 37 16 1265068 1265070 + In_Frame_Del DEL TTC TTC - TCGA-TN-A7HI-01A-11D-A34J-08 TCGA-TN-A7HI-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4c79dc7-ef60-45fe-b9e6-f662d4be6b65 7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4 g.chr16:1265068_1265070delTTC ENST00000348261.5 + 28 5274_5276 c.5026_5028delTTC c.(5026-5028)del p.F1677del CACNA1H_ENST00000358590.4_In_Frame_Del_p.F1671del|CACNA1H_ENST00000565831.1_In_Frame_Del_p.F1671del NM_021098.2 NP_066921.2 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, alpha 1H subunit 1677 aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) GTTCCGTCGGTTCTTCAAGGACA 0.621 10 18 --- --- --- --- YTHDF1 54915 broad.mit.edu 37 20 61833650 61833652 + In_Frame_Del DEL CCT CCT - TCGA-TN-A7HI-01A-11D-A34J-08 TCGA-TN-A7HI-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4c79dc7-ef60-45fe-b9e6-f662d4be6b65 7ed9723a-fbd5-4fb9-93e8-ce13ba44b6a4 g.chr20:61833650_61833652delCCT ENST00000370339.3 - 4 1981_1983 c.1640_1642delAGG c.(1639-1644)gtg>g p.EV547del YTHDF1_ENST00000370333.4_In_Frame_Del_p.EV497del|YTHDF1_ENST00000370334.4_Intron NM_017798.3 NP_060268.2 Q9BYJ9 YTHD1_HUMAN YTH domain family, member 1 547 NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2) 24 TTGCGCACCACCTCCTCCTCCTC 0.557 8 256 --- --- --- ---