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 AFTPH 54812 broad.mit.edu 37 2 64796266 64796266 + Missense_Mutation SNP G G A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr2:64796266G>A ENST00000422803.1 + 4 2442 c.2128G>A c.(2128-2130)Gat>Aat p.D710N AFTPH_ENST00000238856.4_Missense_Mutation_p.D710N|AFTPH_ENST00000487769.1_Intron|AFTPH_ENST00000409933.1_Missense_Mutation_p.D710N|AFTPH_ENST00000238855.7_Missense_Mutation_p.D710N|AFTPH_ENST00000409183.1_Missense_Mutation_p.D341N Q6ULP2 AFTIN_HUMAN aftiphilin 710 protein transport AP-1 adaptor complex|cytosol|nucleus clathrin binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 35 GGATATCCATGATGCACATGG 0.458000 70 96 0 0 1 0 0 NTM 50863 broad.mit.edu 37 11 132082041 132082041 + Splice_Site SNP G G T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr11:132082041G>T ENST00000374786.1 + 3 1005 c.526_splice c.e3+1 p.A176_splice NTM_ENST00000374791.3_Splice_Site_p.A176_splice|NTM_ENST00000474900.1_3'UTR|NTM_ENST00000539799.1_Splice_Site_p.A176_splice|NTM_ENST00000425719.2_Splice_Site_p.A176_splice|NTM_ENST00000374784.1_Splice_Site_p.A176_splice|NTM_ENST00000427481.2_Splice_Site_p.A167_splice NM_001144058.1|NM_016522.2 NP_001137530.1|NP_057606.1 Q9P121 NTRI_HUMAN neurotrimin 176 Ig-like C2-type 2. cell adhesion|neuron recognition anchored to membrane|plasma membrane breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 56 CTCTCCCAAAGGTAAGAGAAC 0.453000 11 163 0.00010058 0.000104247 1 1 0 SLC18A2 6571 broad.mit.edu 37 10 119015131 119015131 + Silent SNP C C G TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr10:119015131C>G ENST00000298472.5 + 9 1001 c.858C>G c.(856-858)acC>acG p.T286T SLC18A2_ENST00000497497.1_3'UTR NM_003054.4 NP_003045.2 Q05940 VMAT2_HUMAN solute carrier family 18 (vesicular monoamine transporter), member 2 286 neurotransmitter secretion clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction monoamine transmembrane transporter activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16) 29 Colorectal(252;0.19) all cancers(201;0.029) Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844) CACCCCTAACCACGCTGCTGA 0.607000 15 8 0 0 1 0 0 SNTA1 6640 broad.mit.edu 37 20 31996554 31996554 + Missense_Mutation SNP C C T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr20:31996554C>T ENST00000217381.2 - 7 1649 c.1378G>A c.(1378-1380)Ggt>Agt p.G460S NM_003098.2 NP_003089.1 Q13424 SNTA1_HUMAN syntrophin, alpha 1 460 SU. muscle contraction cell junction|cytoplasm|cytoskeleton|sarcolemma actin binding|calmodulin binding breast(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(1) 13 AGACTGGCACCGTCATCTGAA 0.617000 81 49 0 0 1 0 0 GDPD4 220032 broad.mit.edu 37 11 76956338 76956338 + Silent SNP G G A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr11:76956338G>A ENST00000315938.4 - 11 1324 c.1074C>T c.(1072-1074)atC>atT p.I358I GDPD4_ENST00000376217.2_Silent_p.I358I NM_182833.1 NP_878253.1 Q6W3E5 GDPD4_HUMAN glycerophosphodiester phosphodiesterase domain containing 4 358 GDPD. glycerol metabolic process|lipid metabolic process integral to membrane glycerophosphodiester phosphodiesterase activity|metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1) 20 GATGTTGCTCGATTTTAGAGG 0.438000 25 245 0 0 1 0 0 HFM1 164045 broad.mit.edu 37 1 91779021 91779021 + Silent SNP G G C TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr1:91779021G>C ENST00000370425.3 - 30 3374 c.3276C>G c.(3274-3276)gtC>gtG p.V1092V HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000294696.5_Silent_p.V324V|HFM1_ENST00000370424.3_Silent_p.V771V NM_001017975.3 NP_001017975.3 A2PYH4 HFM1_HUMAN HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) 1092 SEC63. ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 75 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) CTAAGTAAAAGACTGTAAGTT 0.308000 6 43 0 0 1 0 0 LOC440040 440040 broad.mit.edu 37 11 49831420 49831420 + RNA SNP T T A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr11:49831420T>A ENST00000527477.1 + 0 1645 ACAAGTTTTCTTGCATGGGGT 0.463000 24 37 0 0 1 0 0 CNTN5 53942 broad.mit.edu 37 11 100226913 100226913 + Missense_Mutation SNP T T A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr11:100226913T>A ENST00000524871.1 + 25 3555 c.3265T>A c.(3265-3267)Ttg>Atg p.L1089M CNTN5_ENST00000528682.1_Missense_Mutation_p.L1089M|CNTN5_ENST00000418526.2_Missense_Mutation_p.L1015M|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000279463.3_Missense_Mutation_p.L1089M NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 1089 cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) ATCAGTCACCTTGCTCTTGGC 0.413000 6 55 0 0 1 0 0 NR0B2 8431 broad.mit.edu 37 1 27238520 27238520 + Nonsense_Mutation SNP C C T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr1:27238520C>T ENST00000254227.3 - 2 615 c.590G>A c.(589-591)tGg>tAg p.W197* NM_021969.2 NP_068804.1 Q15466 NR0B2_HUMAN nuclear receptor subfamily 0, group B, member 2 197 Ligand-binding (By similarity). cholesterol metabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm DNA binding|protein domain specific binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity NS(1)|large_intestine(1)|lung(3) 5 all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.01e-51)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419) ACACAGCACCCAGTGAGCCTC 0.652000 17 29 0 0 1 0 0 GOLGA4 2803 broad.mit.edu 37 3 37366433 37366433 + Missense_Mutation SNP C C T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr3:37366433C>T ENST00000361924.2 + 14 3430 c.3056C>T c.(3055-3057)tCa>tTa p.S1019L GOLGA4_ENST00000356847.4_Missense_Mutation_p.S1041L|GOLGA4_ENST00000444882.1_Intron NM_002078.4 NP_002069.2 Q13439 GOGA4_HUMAN golgin A4 1019 Glu-rich. Golgi to plasma membrane protein transport Golgi membrane|trans-Golgi network protein binding NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 GATGCAGTGTCAAGACTGGAA 0.378000 47 12 0 0 1 0 0 EGFLAM 133584 broad.mit.edu 37 5 38352385 38352385 + Missense_Mutation SNP C C T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr5:38352385C>T ENST00000322350.5 + 5 843 c.497C>T c.(496-498)gCg>gTg p.A166V EGFLAM_ENST00000354891.3_Missense_Mutation_p.A166V NM_152403.3 NP_689616.2 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G domains 166 Fibronectin type-III 2. cell junction|proteinaceous extracellular matrix|synapse NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) AAACCTGGAGCGAGTGAAGGA 0.527000 81 133 0 0 1 0 0 BTBD11 121551 broad.mit.edu 37 12 108051465 108051465 + Silent SNP C C T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr12:108051465C>T ENST00000280758.5 + 17 3813 c.3285C>T c.(3283-3285)caC>caT p.H1095H BTBD11_ENST00000357167.4_Silent_p.H632H|BTBD11_ENST00000420571.2_Silent_p.H976H|BTBD11_ENST00000494235.2_Silent_p.H174H NM_001018072.1 NP_001018082.1 A6QL63 BTBDB_HUMAN BTB (POZ) domain containing 11 1095 integral to membrane DNA binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 53 AGTCCATCCACTTGTCGTCTT 0.512000 12 76 0 0 1 0 0 SLC25A45 283130 broad.mit.edu 37 11 65147341 65147341 + Silent SNP C C T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr11:65147341C>T ENST00000417511.2 - 7 1158 c.24G>A c.(22-24)gaG>gaA p.E8E SLC25A45_ENST00000534028.1_Intron|SLC25A45_ENST00000526432.1_Silent_p.E50E|SLC25A45_ENST00000360662.3_Intron|SLC25A45_ENST00000398802.1_Silent_p.E50E|SLC25A45_ENST00000294187.6_Silent_p.E8E|SLC25A45_ENST00000527174.1_Silent_p.E50E|SLC25A45_ENST00000377152.2_Silent_p.E8E NM_001278251.1 NP_001265180.1 Q8N413 S2545_HUMAN solute carrier family 25, member 45 50 transmembrane transport integral to membrane|mitochondrial inner membrane binding endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 14 CACTCACGGACTCATGGCGGT 0.617000 9 46 0 0 1 0 0 HLX 3142 broad.mit.edu 37 1 221057558 221057558 + Silent SNP C C A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr1:221057558C>A ENST00000366903.6 + 4 2480 c.979C>A c.(979-981)Cgg>Agg p.R327R HLX_ENST00000549319.1_Silent_p.R113R NM_021958.3 NP_068777.1 Q14774 HLX_HUMAN H2.0-like homeobox 327 cell differentiation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 GBM - Glioblastoma multiforme(131;0.00914) GTTCCAGAACCGGCGGATGAA 0.637000 37 8 6.21074e-16 7.5133e-16 1 1 0 FAM127B 26071 broad.mit.edu 37 X 134186112 134186112 + Silent SNP C C T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chrX:134186112C>T ENST00000370775.2 - 1 93 c.27G>A c.(25-27)aaG>aaA p.K9K FAM127B_ENST00000520964.1_5'UTR NM_001078172.1 NP_001071640.1 Q9BWD3 F127B_HUMAN family with sequence similarity 127, member B 9 breast(3)|endometrium(2)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Acute lymphoblastic leukemia(192;0.000127) CCAGGAGGGCCTTCATCAGCT 0.701000 9 91 0 0 1 0 0 ASH1L 55870 broad.mit.edu 37 1 155448853 155448853 + Missense_Mutation SNP G G C TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr1:155448853G>C ENST00000368346.3 - 3 4447 c.3808C>G c.(3808-3810)Cga>Gga p.R1270G ASH1L_ENST00000392403.3_Missense_Mutation_p.R1270G Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) 1270 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) TTCCGTTTTCGTTTCTGCCTT 0.393000 65 144 0 0 1 0 0 TSPEAR 54084 broad.mit.edu 37 21 45987698 45987698 + Missense_Mutation SNP T T A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr21:45987698T>A ENST00000323084.4 - 2 339 c.274A>T c.(274-276)Act>Tct p.T92S TSPEAR_ENST00000397916.1_Missense_Mutation_p.T24S NM_001272037.1|NM_144991.2 NP_001258966.1|NP_659428.2 Q8WU66 TSEAR_HUMAN thrombospondin-type laminin G domain and EAR repeats 92 TSP N-terminal. cell adhesion extracellular region structural molecule activity breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 37 ACTCTCAAAGTTACGACGATG 0.507000 6 53 0 0 1 0 0 CCDC51 79714 broad.mit.edu 37 3 48476460 48476460 + Nonsense_Mutation SNP C C A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr3:48476460C>A ENST00000395694.2 - 2 164 c.79G>T c.(79-81)Gga>Tga p.G27* CCDC51_ENST00000395696.1_Nonsense_Mutation_p.G27*|CCDC51_ENST00000447018.1_Intron|CCDC51_ENST00000412398.2_Intron|CCDC51_ENST00000442740.1_Intron NM_001256964.1 NP_001243893.1 Q96ER9 CCD51_HUMAN coiled-coil domain containing 51 27 integral to membrane endometrium(4)|kidney(4)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) AGGTCCCTTCCAAGGAGGCCC 0.647000 19 6 7.33628e-21 9.38855e-21 1 1 0 ZC3H13 23091 broad.mit.edu 37 13 46619597 46619597 + Missense_Mutation SNP T T C TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr13:46619597T>C ENST00000242848.4 - 2 394 c.46A>G c.(46-48)Ata>Gta p.I16V ZC3H13_ENST00000282007.3_Missense_Mutation_p.I16V Q5T200 ZC3HD_HUMAN zinc finger CCCH-type containing 13 16 nucleic acid binding|zinc ion binding cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 79 Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;4.18e-05) CTATCAGATATAGTCTTGGTA 0.418000 80 34 0 0 1 0 0 ORC5 5001 broad.mit.edu 37 7 103808967 103808967 + Silent SNP C C T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr7:103808967C>T ENST00000545943.1 - 10 1060 c.435G>A c.(433-435)caG>caA p.Q145Q ORC5_ENST00000447452.2_Silent_p.Q277Q|ORC5_ENST00000297431.4_Silent_p.Q277Q O43913 ORC5_HUMAN origin recognition complex, subunit 5 277 cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle cytoplasm|nuclear origin of replication recognition complex|nucleoplasm ATP binding|DNA replication origin binding|identical protein binding kidney(1)|large_intestine(2)|lung(9)|pancreas(1)|upper_aerodigestive_tract(1) 14 GCTTTTCCCACTGGGAACTGA 0.333000 53 94 0 0 1 0 0 SLC9A8 23315 broad.mit.edu 37 20 48503372 48503372 + Missense_Mutation SNP G G C TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr20:48503372G>C ENST00000417961.1 + 15 1833 c.1623G>C c.(1621-1623)aaG>aaC p.K541N SLC9A8_ENST00000361573.2_Missense_Mutation_p.K525N|SLC9A8_ENST00000490250.1_3'UTR|SLC9A8_ENST00000541138.1_Missense_Mutation_p.K225N|SLC9A8_ENST00000539601.1_Missense_Mutation_p.K306N NM_001260491.1|NM_015266.2 NP_001247420.1|NP_056081.1 Q9Y2E8 SL9A8_HUMAN solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8 525 Golgi membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 BRCA - Breast invasive adenocarcinoma(9;3.91e-07) AGGACCTTAAGGGCTTCGTGT 0.627000 26 92 0 0 1 0 0 GRM5 2915 broad.mit.edu 37 11 88300969 88300969 + Missense_Mutation SNP C C A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr11:88300969C>A ENST00000418177.2 - 8 2249 c.1882G>T c.(1882-1884)Ggc>Tgc p.G628C GRM5_ENST00000455756.2_Missense_Mutation_p.G628C|GRM5_ENST00000305432.5_Missense_Mutation_p.G628C|GRM5_ENST00000393297.1_Missense_Mutation_p.G628C|GRM5_ENST00000305447.4_Missense_Mutation_p.G628C P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 628 activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) CATAAGTAGCCCAGGCAGATG 0.478000 16 76 1.22574e-08 1.32566e-08 1 1 0 ADCY8 114 broad.mit.edu 37 8 131916041 131916041 + Missense_Mutation SNP C C A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr8:131916041C>A ENST00000286355.5 - 7 3980 c.1888G>T c.(1888-1890)Gat>Tat p.D630Y ADCY8_ENST00000377928.3_Missense_Mutation_p.D630Y NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 630 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 integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) ACGATATTATCAAAGGGCAGT 0.507000 HNSCC(32;0.087) 76 17 9.24773e-40 1.32396e-39 1 1 0 DHX34 9704 broad.mit.edu 37 19 47876148 47876148 + Missense_Mutation SNP A A T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr19:47876148A>T ENST00000328771.4 + 8 2279 c.1930A>T c.(1930-1932)Acg>Tcg p.T644S NM_014681.5 NP_055496.2 Q14147 DHX34_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 34 644 intracellular ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132) TGACCCCTTCACGCTCTTCAA 0.682000 22 2 0 0 1 0 0 CDH8 1006 broad.mit.edu 37 16 61823326 61823326 + Silent SNP C C A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr16:61823326C>A ENST00000577390.1 - 8 2292 c.1338G>T c.(1336-1338)ggG>ggT p.G446G CDH8_ENST00000577730.1_Silent_p.G446G|CDH8_ENST00000299345.6_Silent_p.G446G|CDH8_ENST00000584337.1_Silent_p.G446G NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 446 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) GCGTTATCTTCCCATCGTCTG 0.403000 18 58 2.4624e-09 2.69982e-09 1 1 0 KCNA5 3741 broad.mit.edu 37 12 5154975 5154975 + Silent SNP G G C TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr12:5154975G>C ENST00000252321.3 + 1 1891 c.1662G>C c.(1660-1662)cgG>cgC p.R554R NM_002234.3 NP_002225.2 P22460 KCNA5_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 5 554 Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2) 52 GAGTCCAGCGGAAGGTCAGCG 0.637000 34 13 0 0 1 0 0 CARD11 84433 broad.mit.edu 37 7 2969697 2969697 + Missense_Mutation SNP C C T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr7:2969697C>T ENST00000396946.4 - 12 1985 c.1582G>A c.(1582-1584)Gag>Aag p.E528K NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 528 positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity p.E521K(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) CCTTCTTCCTCGTGCCCCTTG 0.617000 Mis DLBCL 20 72 0 0 1 0 0 FLNC 2318 broad.mit.edu 37 7 128492926 128492926 + Missense_Mutation SNP G G T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr7:128492926G>T ENST00000325888.8 + 37 6310 c.6049G>T c.(6049-6051)Gtg>Ttg p.V2017L RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.V1984L NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 2017 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 CGTGGTGAGCGTGCGCAAGAG 0.642000 33 65 6.50621e-10 7.19298e-10 1 1 0 GRB10 2887 broad.mit.edu 37 7 50680527 50680527 + Missense_Mutation SNP C C A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr7:50680527C>A ENST00000403097.1 - 12 1867 c.1087G>T c.(1087-1089)Gtc>Ttc p.V363F GRB10_ENST00000406641.1_Missense_Mutation_p.V311F|GRB10_ENST00000335866.3_Missense_Mutation_p.V311F|GRB10_ENST00000407526.1_Missense_Mutation_p.V311F|GRB10_ENST00000398812.2_Missense_Mutation_p.V369F|GRB10_ENST00000398810.2_Missense_Mutation_p.V311F|GRB10_ENST00000357271.5_Missense_Mutation_p.V323F|GRB10_ENST00000402497.1_Missense_Mutation_p.V311F|GRB10_ENST00000401949.1_Missense_Mutation_p.V369F|GRB10_ENST00000439599.1_Missense_Mutation_p.V363F|GRB10_ENST00000402578.1_Missense_Mutation_p.V311F Q13322 GRB10_HUMAN growth factor receptor-bound protein 10 369 PH. 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) TCATTCCTGACTTTGTTTGGC 0.483000 Russell-Silver syndrome 12 23 2.27111e-07 2.42333e-07 1 1 0 RBBP9 10741 broad.mit.edu 37 20 18470627 18470627 + Silent SNP G G A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr20:18470627G>A ENST00000337227.4 - 5 417 c.342C>T c.(340-342)ttC>ttT p.F114F RBBP9_ENST00000493184.1_5'UTR NM_006606.2 NP_006597.2 O75884 RBBP9_HUMAN retinoblastoma binding protein 9 114 cytoplasm|nucleus hydrolase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|prostate(1) 9 AGGGGCGGGTGAAGTATCCTA 0.478000 5 9 0 0 1 0 0 PPP1R21 129285 broad.mit.edu 37 2 48687257 48687257 + Missense_Mutation SNP G G T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr2:48687257G>T ENST00000294952.8 + 6 721 c.564G>T c.(562-564)aaG>aaT p.K188N PPP1R21_ENST00000449090.2_Missense_Mutation_p.K188N|PPP1R21_ENST00000281394.4_Missense_Mutation_p.K188N NM_001135629.2 NP_001129101.1 Q6ZMI0 KLRAQ_HUMAN protein phosphatase 1, regulatory subunit 21 188 endometrium(2)|kidney(4)|lung(9) 15 CTCTAGAAAAGGAAGCCAAGG 0.443000 11 30 3.35478e-16 4.09571e-16 1 1 0 DCC 1630 broad.mit.edu 37 18 50918122 50918122 + Missense_Mutation SNP G G T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr18:50918122G>T ENST00000442544.2 + 17 3169 c.2553G>T c.(2551-2553)caG>caT p.Q851H DCC_ENST00000412726.1_Missense_Mutation_p.Q679H|DCC_ENST00000581580.1_Missense_Mutation_p.Q486H NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 851 Fibronectin type-III 5. 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) TAGGTGTACAGGCTGTGGCTC 0.537000 89 136 1.47424e-42 2.15716e-42 1 1 0 GPLD1 2822 broad.mit.edu 37 6 24448417 24448417 + Missense_Mutation SNP A A T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr6:24448417A>T ENST00000230036.1 - 16 1576 c.1466T>A c.(1465-1467)tTt>tAt p.F489Y NM_001503.3 NP_001494.2 P80108 PHLD_HUMAN glycosylphosphatidylinositol specific phospholipase D1 489 extracellular region glycosylphosphatidylinositol phospholipase D activity breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 32 TTTGGAACCAAAGTAGACATA 0.443000 19 18 0 0 1 0 0 CPA4 51200 broad.mit.edu 37 7 129950788 129950788 + Missense_Mutation SNP G G T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr7:129950788G>T ENST00000222482.4 + 9 983 c.955G>T c.(955-957)Ggg>Tgg p.G319W CPA4_ENST00000493259.1_Missense_Mutation_p.G215W|CPA4_ENST00000445470.2_Missense_Mutation_p.G286W NM_016352.3 NP_057436.2 Q9UI42 CBPA4_HUMAN carboxypeptidase A4 319 histone acetylation|proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Melanoma(18;0.0435) GTATCCATATGGGTACTCAGT 0.552000 81 126 4.10057e-40 5.8918e-40 1 1 0 CYP4F2 8529 broad.mit.edu 37 19 16000319 16000319 + Missense_Mutation SNP G G T rs4605294 TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr19:16000319G>T ENST00000221700.5 - 7 927 c.832C>A c.(832-834)Ctc>Atc p.L278I CYP4F2_ENST00000592328.1_Missense_Mutation_p.L278I|CYP4F2_ENST00000011989.7_Missense_Mutation_p.L129I NM_001082.3 NP_001073.3 P78329 CP4F2_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 2 278 leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 TGGCTAGGGAGAGTGCGGCGC 0.582000 47 16 1.39843e-22 1.83084e-22 1 1 0 PRRC2A 7916 broad.mit.edu 37 6 31597368 31597368 + Missense_Mutation SNP A A G TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr6:31597368A>G ENST00000376033.2 + 14 2234 c.2000A>G c.(1999-2001)cAt>cGt p.H667R PRRC2A_ENST00000376007.4_Missense_Mutation_p.H667R NM_004638.3 NP_004629.3 P48634 PRC2A_HUMAN proline-rich coiled-coil 2A 667 4 X 57 AA type A repeats.|Poly-Gln. cytoplasm|nucleus protein binding breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 70 tggcagcagcatcaacagGGC 0.622000 12 44 0 0 1 0 0 SMCHD1 23347 broad.mit.edu 37 18 2740725 2740725 + Missense_Mutation SNP G G A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr18:2740725G>A ENST00000320876.6 + 28 3877 c.3539G>A c.(3538-3540)gGa>gAa p.G1180E RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.G1180E NM_015295.2 NP_056110.2 A6NHR9 SMHD1_HUMAN structural maintenance of chromosomes flexible hinge domain containing 1 1180 chromosome organization ATP binding NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1) 45 GATCAGTACGGAAATCAGATT 0.294000 37 48 0 0 1 0 0 NXPE4 54827 broad.mit.edu 37 11 114442043 114442043 + Silent SNP G G T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr11:114442043G>T ENST00000375478.3 - 6 1432 c.1252C>A c.(1252-1254)Cgg>Agg p.R418R NXPE4_ENST00000424261.2_Silent_p.R134R NM_001077639.1 NP_001071107.1 neurexophilin and PC-esterase domain family, member 4 TCAATGGCCCGGGTGAGGTAC 0.428000 245 122 1.75489e-134 2.69671e-134 1 1 0 DNAJC6 9829 broad.mit.edu 37 1 65874376 65874376 + Silent SNP C C T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr1:65874376C>T ENST00000395325.3 + 17 2530 c.2373C>T c.(2371-2373)ttC>ttT p.F791F DNAJC6_ENST00000371069.4_Silent_p.F848F|DNAJC6_ENST00000263441.7_Silent_p.F778F NM_014787.3 NP_055602.1 O75061 AUXI_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 6 791 cellular membrane organization|post-Golgi vesicle-mediated transport cytosol heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1) 39 GTCAAGGTTTCAATGCTCACA 0.383000 20 35 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38747797 38747797 + Missense_Mutation SNP C C A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr6:38747797C>A ENST00000359357.3 + 13 1698 c.1444C>A c.(1444-1446)Cgt>Agt p.R482S DNAH8_ENST00000441566.1_Missense_Mutation_p.R482S|DNAH8_ENST00000449981.2_Missense_Mutation_p.R699S dynein, axonemal, heavy chain 8 p.R482C(2) NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 CACAATAGAGCGTATTCTTCA 0.323000 31 26 6.97489e-18 8.62113e-18 1 1 0 ANKRD50 57182 broad.mit.edu 37 4 125591421 125591421 + Missense_Mutation SNP T T A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr4:125591421T>A ENST00000504087.1 - 4 4048 c.3011A>T c.(3010-3012)gAc>gTc p.D1004V ANKRD50_ENST00000515641.1_Missense_Mutation_p.D825V NM_020337.2 NP_065070.1 Q9ULJ7 ANR50_HUMAN ankyrin repeat domain 50 1004 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 AGCATTGACGTCAGCATGGTA 0.493000 24 46 0 0 1 0 0 PROSER1 80209 broad.mit.edu 37 13 39586309 39586309 + Missense_Mutation SNP C C A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr13:39586309C>A ENST00000352251.3 - 12 3456 c.2623G>T c.(2623-2625)Ggt>Tgt p.G875C PROSER1_ENST00000484434.2_5'UTR|PROSER1_ENST00000350125.3_Missense_Mutation_p.G853C NM_025138.3 NP_079414.3 Q86XN7 CM023_HUMAN proline and serine rich 1 875 CCAGGGATACCCGGGAGGGAC 0.448000 89 60 1.51934e-53 2.2733e-53 1 1 0 MGAT4C 25834 broad.mit.edu 37 12 86383241 86383241 + Silent SNP G G A rs138787902 by1000genomes TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr12:86383241G>A ENST00000604798.1 - 6 1288 c.84C>T c.(82-84)ttC>ttT p.F28F MGAT4C_ENST00000548651.1_Silent_p.F28F|MGAT4C_ENST00000332156.1_Silent_p.F28F|MGAT4C_ENST00000393205.2_Silent_p.F57F|MGAT4C_ENST00000552435.2_Silent_p.F28F|MGAT4C_ENST00000549405.2_Silent_p.F28F|MGAT4C_ENST00000552808.2_Silent_p.F28F Q9UBM8 MGT4C_HUMAN mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) 28 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 GAACTCCCAAGAATGACACTG 0.313000 18 13 0 0 1 0 0 SMARCD2 6603 broad.mit.edu 37 17 61911586 61911586 + Missense_Mutation SNP T T G TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr17:61911586T>G ENST00000448276.2 - 8 1289 c.1024A>C c.(1024-1026)Aac>Cac p.N342H SMARCD2_ENST00000225742.9_Missense_Mutation_p.N267H|SMARCD2_ENST00000323347.10_Missense_Mutation_p.N294H NM_001098426.1 NP_001091896.1 Q92925 SMRD2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 342 SWIB. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent SWI/SNF complex protein binding|transcription coactivator activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1) 8 TGCAGCTGGTTGTGCTTGATG 0.587000 OREG0024642 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 16 0 0 1 0 0 AOAH 313 broad.mit.edu 37 7 36579941 36579941 + Missense_Mutation SNP G G T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr7:36579941G>T ENST00000431169.1 - 16 1590 c.1290C>A c.(1288-1290)aaC>aaA p.N430K AOAH_ENST00000491444.1_5'UTR|AOAH_ENST00000538464.1_Missense_Mutation_p.N152K|AOAH_ENST00000258749.5_Missense_Mutation_p.N430K|AOAH_ENST00000535891.1_Missense_Mutation_p.N398K NM_001177506.1 NP_001170977.1 P28039 AOAH_HUMAN acyloxyacyl hydrolase (neutrophil) 430 inflammatory response|lipid metabolic process extracellular region acyloxyacyl hydrolase activity|lipoprotein lipase activity NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 41 GATGATATCTGTTGTGCAAAT 0.363000 11 24 7.93312e-07 8.4422e-07 1 1 0 STAB2 55576 broad.mit.edu 37 12 103988209 103988209 + Silent SNP C C T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr12:103988209C>T ENST00000388887.2 + 3 456 c.252C>T c.(250-252)ctC>ctT p.L84L NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 84 angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 CTCTGTCTCTCCCCGGATGCC 0.507000 101 90 0 0 1 0 0 PRPH2 5961 broad.mit.edu 37 6 42690066 42690066 + Silent SNP G G A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr6:42690066G>A ENST00000230381.5 - 1 246 c.7C>T c.(7-9)Cta>Tta p.L3L NM_000322.4 NP_000313.2 P23942 PRPH2_HUMAN peripherin 2 (retinal degeneration, slow) 3 cell adhesion|visual perception integral to membrane NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 18 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904) ACTTTCAGTAGCGCCATGCTT 0.552000 4 39 0 0 1 0 0 NUP214 8021 broad.mit.edu 37 9 134015982 134015982 + Silent SNP A A T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr9:134015982A>T ENST00000359428.5 + 11 1323 c.1179A>T c.(1177-1179)tcA>tcT p.S393S RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000589540.1_RNA|NUP214_ENST00000411637.2_Silent_p.S393S|RP11-544A12.4_ENST00000589667.1_RNA|RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000590461.1_RNA|NUP214_ENST00000451030.1_Silent_p.S393S|RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000588378.1_RNA P35658 NU214_HUMAN nucleoporin 214kDa 393 carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore|nucleoplasm protein binding NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 86 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256) TGTTACTTTCAACAGATGGTG 0.378000 T """DEK, SET, ABL1""" """AML, T-ALL""" 58 19 0 0 1 0 0 CRY2 1408 broad.mit.edu 37 11 45891234 45891234 + Missense_Mutation SNP A A G TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr11:45891234A>G ENST00000443527.2 + 7 1145 c.1123A>G c.(1123-1125)Aca>Gca p.T375A CRY2_ENST00000417225.2_Missense_Mutation_p.T293A NM_021117.3 NP_066940.2 Q49AN0 CRY2_HUMAN cryptochrome 2 (photolyase-like) 354 FAD-binding. DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2) 15 TGAGGGCAAGACAGGCTTCCC 0.637000 69 97 0 0 1 0 0 KPNA5 3841 broad.mit.edu 37 6 117053313 117053313 + Nonsense_Mutation SNP G G T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr6:117053313G>T ENST00000368564.1 + 14 1595 c.1447G>T c.(1447-1449)Gag>Tag p.E483* KPNA5_ENST00000356348.1_Nonsense_Mutation_p.E483* O15131 IMA5_HUMAN karyopherin alpha 5 (importin alpha 6) 480 NLS-bearing substrate import into nucleus cytoplasm|nuclear pore protein binding|protein transporter activity breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212) GGATAAAATTGAGTTTTTGCA 0.269000 18 13 3.51602e-12 3.98682e-12 1 1 0 MAGEL2 54551 broad.mit.edu 37 15 23889220 23889220 + Nonsense_Mutation SNP C C A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr15:23889220C>A ENST00000532292.1 - 1 1955 c.1861G>T c.(1861-1863)Gag>Tag p.E621* NM_019066.4 NP_061939.3 MAGE-like 2 breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 7 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177) TCTTCCCACTCACACTCTGCG 0.557000 15 32 6.72482e-11 7.5182e-11 1 1 0 NFATC2 4773 broad.mit.edu 37 20 50048864 50048864 + Missense_Mutation SNP C C A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr20:50048864C>A ENST00000371564.3 - 9 2681 c.2462G>T c.(2461-2463)cGc>cTc p.R821L NFATC2_ENST00000414705.1_Missense_Mutation_p.R801L|NFATC2_ENST00000396009.3_Missense_Mutation_p.R821L NM_001258296.1|NM_012340.4 NP_001245225.1|NP_036472.2 Q13469 NFAC2_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 821 B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity EWSR1/NFATC2(9) breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 53 Hepatocellular(150;0.248) GCTTCCGCAGCGCAGCTGCTG 0.652000 143 58 7.43762e-64 1.12554e-63 1 1 0 DGKB 1607 broad.mit.edu 37 7 14775705 14775705 + Missense_Mutation SNP T T C TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr7:14775705T>C ENST00000403951.2 - 5 702 c.283A>G c.(283-285)Agt>Ggt p.S95G DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000406247.3_Missense_Mutation_p.S95G|DGKB_ENST00000402815.1_Missense_Mutation_p.S95G|DGKB_ENST00000444700.2_Missense_Mutation_p.S88G|DGKB_ENST00000407950.1_Missense_Mutation_p.S88G|DGKB_ENST00000258767.5_Missense_Mutation_p.S95G|DGKB_ENST00000399322.3_Missense_Mutation_p.S95G Q9Y6T7 DGKB_HUMAN diacylglycerol kinase, beta 90kDa 95 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Phosphatidylserine(DB00144) ACCATTGGACTAGAATGAGGA 0.353000 7 11 0 0 1 0 0 RAI1 10743 broad.mit.edu 37 17 17697569 17697569 + Missense_Mutation SNP C C G TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr17:17697569C>G ENST00000353383.1 + 3 1776 c.1307C>G c.(1306-1308)aCg>aGg p.T436R RAI1_ENST00000261641.6_Missense_Mutation_p.T436R NM_030665.3 NP_109590.3 Q7Z5J4 RAI1_HUMAN retinoic acid induced 1 436 cytoplasm|nucleus zinc ion binding breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7) 48 READ - Rectum adenocarcinoma(1115;0.0276) CAGAGCCTCACGGCGCTGACC 0.602000 35 20 0 0 1 0 0 WBP11P1 441818 broad.mit.edu 37 18 30092249 30092249 + RNA SNP C C A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr18:30092249C>A ENST00000567636.1 + 0 624 NR_003558.1 ATGCCACATGCTTCTTCTAAC 0.473000 7 9 0.00198382 0.00202972 1 1 0 DGKG 1608 broad.mit.edu 37 3 185882739 185882739 + Missense_Mutation SNP C C A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr3:185882739C>A ENST00000265022.3 - 23 2703 c.2164G>T c.(2164-2166)Ggc>Tgc p.G722C DGKG_ENST00000447054.1_5'UTR|DGKG_ENST00000544847.1_Missense_Mutation_p.G663C|DGKG_ENST00000344484.4_Missense_Mutation_p.G697C|DGKG_ENST00000382164.4_Missense_Mutation_p.G683C NM_001080744.1|NM_001080745.1|NM_001346.2 NP_001074213.1|NP_001074214.1|NP_001337.2 P49619 DGKG_HUMAN diacylglycerol kinase, gamma 90kDa 722 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 42 all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) GBM - Glioblastoma multiforme(93;0.0657) Phosphatidylserine(DB00144) CTCTTCAGGCCGGTGTAGATC 0.587000 40 42 3.76604e-16 4.58374e-16 1 1 0 WDR3 10885 broad.mit.edu 37 1 118495150 118495150 + Splice_Site SNP G G T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr1:118495150G>T ENST00000349139.4 + 19 2063 c.e19-1 NM_006784.2 NP_006775.1 Q9UNX4 WDR3_HUMAN WD repeat domain 3 nuclear membrane|nucleolus breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1) 49 Esophageal squamous(2;0.162) all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244) OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185) TTCTCCTCCAGGGTCATCACC 0.383000 21 33 2.21704e-12 2.52109e-12 1 1 0 ADAMTS12 81792 broad.mit.edu 37 5 33637845 33637845 + Silent SNP C C T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr5:33637845C>T ENST00000504830.1 - 12 2060 c.1725G>A c.(1723-1725)aaG>aaA p.K575K ADAMTS12_ENST00000352040.3_Silent_p.K575K|ADAMTS12_ENST00000504582.1_5'UTR NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 575 TSP type-1 1. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 TCCCTCCAAACTTTGGCCTGC 0.463000 HNSCC(64;0.19) 18 25 0 0 1 0 0 EGR1 1958 broad.mit.edu 37 5 137803189 137803189 + Missense_Mutation SNP C C T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr5:137803189C>T ENST00000239938.4 + 2 1323 c.1051C>T c.(1051-1053)Cgc>Tgc p.R351C NM_001964.2 NP_001955.1 P18146 EGR1_HUMAN early growth response 1 351 cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytoplasm|nucleus histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) CCGCTTCTCCCGCTCCGACGA 0.662000 44 21 0 0 1 0 0 EFHC1 114327 broad.mit.edu 37 6 52334218 52334218 + Missense_Mutation SNP G G T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr6:52334218G>T ENST00000371068.5 + 7 1328 c.1225G>T c.(1225-1227)Gtt>Ttt p.V409F EFHC1_ENST00000433625.2_Missense_Mutation_p.V318F|EFHC1_ENST00000538167.1_Missense_Mutation_p.V390F NM_018100.3 NP_060570.2 Q5JVL4 EFHC1_HUMAN EF-hand domain (C-terminal) containing 1 409 axoneme|neuronal cell body calcium ion binding|protein C-terminus binding breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 27 Lung NSC(77;0.109) AAAAAAAGACGTTATTAAAAT 0.368000 44 34 3.21987e-24 4.2575e-24 1 1 0 MYH6 4624 broad.mit.edu 37 14 23866453 23866453 + Missense_Mutation SNP T T A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr14:23866453T>A ENST00000405093.3 - 17 2046 c.1976A>T c.(1975-1977)aAg>aTg p.K659M MYH6_ENST00000356287.3_Missense_Mutation_p.K659M NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 659 Actin-binding.|Myosin head-like. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) GGTCATTAGCTTGTTGAGATT 0.547000 73 155 0 0 1 0 0 COL9A3 1299 broad.mit.edu 37 20 61468500 61468500 + Missense_Mutation SNP G G T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr20:61468500G>T ENST00000343916.3 + 30 1672 c.1669G>T c.(1669-1671)Ggt>Tgt p.G557C COL9A3_ENST00000462700.1_3'UTR NM_001853.3 NP_001844.3 Q14050 CO9A3_HUMAN collagen, type IX, alpha 3 557 Triple-helical region 2 (COL2). axon guidance collagen type IX breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 Breast(26;5.68e-08) TGGTCGGCCCGGTCCAGCTGG 0.652000 176 78 7.61791e-68 1.15722e-67 1 1 0 IGKV2D-29 28882 broad.mit.edu 37 2 89986811 89986811 + RNA SNP T T C TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr2:89986811T>C ENST00000491977.1 + 0 122 CCACTCTCTCTGTCCGTCACC 0.473000 37 35 0 0 1 0 0 POU2AF1 5450 broad.mit.edu 37 11 111225223 111225223 + Silent SNP C C T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr11:111225223C>T ENST00000393067.3 - 5 1048 c.534G>A c.(532-534)ccG>ccA p.P178P NM_006235.2 NP_006226.2 Q16633 OBF1_HUMAN POU class 2 associating factor 1 178 humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding|transcription coactivator activity breast(1)|kidney(2)|lung(2) 5 all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389) Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364) GCTGAGGCCACGGGAAATAGG 0.652000 T BCL6 NHL 15 38 0 0 1 0 0 PLEKHM1P 440456 broad.mit.edu 37 17 62818422 62818422 + RNA SNP C C A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr17:62818422C>A ENST00000582986.1 - 0 277 NR_024386.1 CTCCATCAGGCCATTGTTCAG 0.627000 20 33 3.10358e-05 3.25059e-05 1 1 0 NRCAM 4897 broad.mit.edu 37 7 107864242 107864242 + Missense_Mutation SNP G G T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr7:107864242G>T ENST00000379028.3 - 11 1287 c.817C>A c.(817-819)Cca>Aca p.P273T NRCAM_ENST00000379024.4_Missense_Mutation_p.P254T|NRCAM_ENST00000425651.2_Missense_Mutation_p.P273T|NRCAM_ENST00000379022.4_Missense_Mutation_p.P273T|NRCAM_ENST00000351718.4_Missense_Mutation_p.P267T|NRCAM_ENST00000413765.2_Missense_Mutation_p.P254T Q92823 NRCAM_HUMAN neuronal cell adhesion molecule 273 Ig-like 3. angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly external side of plasma membrane|integral to plasma membrane ankyrin binding breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 65 TTGCCTTCTGGAGTTAAAAAT 0.363000 34 68 6.2361e-21 8.00635e-21 1 1 0 TSPYL4 23270 broad.mit.edu 37 6 116573934 116573934 + Missense_Mutation SNP G G C TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr6:116573934G>C ENST00000420283.1 - 1 1327 c.1238C>G c.(1237-1239)tCt>tGt p.S413C NM_021648.4 NP_067680.3 Q9UJ04 TSYL4_HUMAN TSPY-like 4 413 nucleosome assembly nucleus endometrium(2)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(2) 11 all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234) all cancers(137;0.045)|OV - Ovarian serous cystadenocarcinoma(136;0.0666)|GBM - Glioblastoma multiforme(226;0.095)|Epithelial(106;0.125) AGATTAGCCAGACTGGAACCT 0.532000 4 4 0 0 1 0 0 TGIF2LX 90316 broad.mit.edu 37 X 89177383 89177383 + Missense_Mutation SNP G G T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chrX:89177383G>T ENST00000561129.2 + 1 429 c.299G>T c.(298-300)tGg>tTg p.W100L TGIF2LX_ENST00000283891.5_Missense_Mutation_p.W100L Q8IUE1 TF2LX_HUMAN TGFB-induced factor homeobox 2-like, X-linked 100 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1) 40 ATTTCTAACTGGTTTATCAAT 0.468000 86 26 4.18329e-38 5.94625e-38 1 1 0 INO80 54617 broad.mit.edu 37 15 41347502 41347502 + Nonsense_Mutation SNP C C A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr15:41347502C>A ENST00000361937.3 - 18 2555 c.2131G>T c.(2131-2133)Gaa>Taa p.E711* INO80_ENST00000401393.3_Nonsense_Mutation_p.E711* Q9ULG1 INO80_HUMAN INO80 complex subunit 711 Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2. cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair Ino80 complex|microtubule actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 GAAAACCATTCATTAAATTCC 0.368000 6 55 5.4927e-09 5.95666e-09 1 1 0 MMP7 4316 broad.mit.edu 37 11 102401431 102401431 + Translation_Start_Site SNP T T A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr11:102401431T>A ENST00000260227.4 - 1 53 c.1A>T c.(1-3)Atg>Ttg p.M1L NM_002423.3 NP_002414.1 P09237 MMP7_HUMAN matrix metallopeptidase 7 (matrilysin, uterine) 1 collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 12 all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033) Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0147) GTGAGTCGCATAGCTGCCGTC 0.547000 8 105 0 0 1 0 0 MCAM 4162 broad.mit.edu 37 11 119181112 119181112 + Missense_Mutation SNP C C G TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr11:119181112C>G ENST00000264036.4 - 15 1872 c.1858G>C c.(1858-1860)Gag>Cag p.E620Q MCAM_ENST00000392814.1_3'UTR NM_006500.2 NP_006491.2 P43121 MUC18_HUMAN melanoma cell adhesion molecule 620 anatomical structure morphogenesis|cell adhesion integral to membrane|plasma membrane breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1) 22 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;3.78e-05) AGGCCCATCTCTTCTGGGAGC 0.602000 44 187 0 0 1 0 0 TP53TG3D 729264 broad.mit.edu 37 16 32265037 32265037 + Splice_Site SNP G G T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr16:32265037G>T ENST00000398664.3 + 1 997 c.e1+1 TP53TG3D_ENST00000569631.1_Intron|RP11-56L13.7_ENST00000562604.1_RNA|TP53TG3D_ENST00000354614.3_Splice_Site NM_001243722.1 NP_001230651.1 TP53 target 3D GGTTGTCAAGGTAACGCTCCT 0.597000 23 65 2.21704e-12 2.52109e-12 1 1 0 MYO3A 53904 broad.mit.edu 37 10 26432416 26432416 + Nonsense_Mutation SNP G G T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr10:26432416G>T ENST00000265944.5 + 21 2468 c.2302G>T c.(2302-2304)Gaa>Taa p.E768* MYO3A_ENST00000543632.1_Intron NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 768 Myosin head-like. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 TAGAGTTATTGAATATGAGGA 0.343000 20 46 5.45024e-15 6.53372e-15 1 1 0 OR5M3 219482 broad.mit.edu 37 11 56237443 56237443 + Silent SNP A A G TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr11:56237443A>G ENST00000312240.2 - 1 571 c.531T>C c.(529-531)tgT>tgC p.C177C NM_001004742.2 NP_001004742.2 Q8NGP4 OR5M3_HUMAN olfactory receptor, family 5, subfamily M, member 3 177 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 37 Esophageal squamous(21;0.00448) GTGGATCTGCACAGTAGAAAT 0.413000 73 97 0 0 1 0 0 FAM102A 399665 broad.mit.edu 37 9 130712784 130712784 + Missense_Mutation SNP G G A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr9:130712784G>A ENST00000373095.1 - 4 707 c.332C>T c.(331-333)gCg>gTg p.A111V FAM102A_ENST00000373084.4_5'UTR|FAM102A_ENST00000300434.3_5'UTR NM_001035254.2 NP_001030331.1 Q5T9C2 F102A_HUMAN family with sequence similarity 102, member A 111 breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4) 10 GCCCGAGCCCGCAAACTCGGC 0.632000 4 96 0 0 1 0 0 DLG2 1740 broad.mit.edu 37 11 84028152 84028152 + Silent SNP G G T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr11:84028152G>T ENST00000280241.8 - 1 36 c.37C>A c.(37-39)Cgg>Agg p.R13R DLG2_ENST00000376104.2_Intron|DLG2_ENST00000543673.1_Intron|DLG2_ENST00000532653.1_Intron|DLG2_ENST00000398309.2_Intron|DLG2_ENST00000398301.2_Silent_p.R13R|DLG2_ENST00000524982.1_Intron NM_001206769.1 NP_001193698.1 Q15700 DLG2_HUMAN discs, large homolog 2 (Drosophila) 0 cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) TCGGACCCCCGGCTGCAGCTG 0.582000 258 106 6.99405e-162 1.07893e-161 1 1 0 PARPBP 55010 broad.mit.edu 37 12 102589974 102589974 + Missense_Mutation SNP G G T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr12:102589974G>T ENST00000327680.2 + 12 1865 c.1402G>T c.(1402-1404)Ggc>Tgc p.G468C PARPBP_ENST00000378128.3_3'UTR|PARPBP_ENST00000541394.1_Missense_Mutation_p.G626C|PARPBP_ENST00000392911.2_Missense_Mutation_p.G468C|PARPBP_ENST00000358383.5_Missense_Mutation_p.G549C|PARPBP_ENST00000543784.1_3'UTR|PARPBP_ENST00000535811.1_3'UTR NM_017915.3 NP_060385.3 Q9NWS1 PR1BP_HUMAN PARP1 binding protein 549 response to DNA damage stimulus cytoplasm|nucleus DNA binding endometrium(1)|lung(8)|urinary_tract(2) 11 TAGATTGTACGGCAAACTAGC 0.323000 17 48 1.56452e-12 1.78931e-12 1 1 0 DEFB115 245929 broad.mit.edu 37 20 29847301 29847301 + Missense_Mutation SNP T T C TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr20:29847301T>C ENST00000400552.1 + 2 133 c.133T>C c.(133-135)Tgc>Cgc p.C45R NM_001037730.1 NP_001032819.1 Q30KQ5 DB115_HUMAN defensin, beta 115 45 defense response to bacterium extracellular region kidney(1)|lung(3)|ovary(1)|skin(1) 6 Colorectal(19;0.00445)|COAD - Colon adenocarcinoma(19;0.0347) AACTGGCAGATGCAGGAAATC 0.313000 13 50 0 0 1 0 0 NLRP10 338322 broad.mit.edu 37 11 7982002 7982002 + Missense_Mutation SNP A A G TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr11:7982002A>G ENST00000328600.2 - 2 1318 c.1157T>C c.(1156-1158)aTg>aCg p.M386T NM_176821.3 NP_789791.1 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 386 NACHT. ATP binding breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) GACGTAAGCCATGAAGATGTC 0.572000 23 9 0 0 1 0 0 MYO5A 4644 broad.mit.edu 37 15 52609325 52609325 + Missense_Mutation SNP G G T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr15:52609325G>T ENST00000399231.3 - 39 5497 c.5254C>A c.(5254-5256)Caa>Aaa p.Q1752K MYO5A_ENST00000553916.1_Missense_Mutation_p.Q1750K|MYO5A_ENST00000358212.6_Missense_Mutation_p.Q1777K|MYO5A_ENST00000356338.6_Missense_Mutation_p.Q1725K|MYO5A_ENST00000399233.2_Missense_Mutation_p.Q1749K NM_000259.3 NP_000250.3 Q9Y4I1 MYO5A_HUMAN myosin VA (heavy chain 12, myoxin) 1752 Dilute. actin filament-based movement|transport cytoplasm|growth cone|myosin complex|ruffle actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1) 57 all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196) TGCAAAAGTTGAGCAGCCTGA 0.428000 31 33 5.60225e-13 6.42563e-13 1 1 0 CD163 9332 broad.mit.edu 37 12 7639097 7639097 + Nonsense_Mutation SNP G G T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr12:7639097G>T ENST00000359156.4 - 10 2658 c.2456C>A c.(2455-2457)tCa>tAa p.S819* CD163_ENST00000396620.3_Nonsense_Mutation_p.S852*|CD163_ENST00000432237.2_Nonsense_Mutation_p.S819*|CD163_ENST00000541972.1_Nonsense_Mutation_p.S807* NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule 819 SRCR 7. acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 TAATTTACCTGAGCAGATAAC 0.433000 56 62 5.80444e-35 8.0775e-35 1 1 0 TRHDE 29953 broad.mit.edu 37 12 72893350 72893350 + Missense_Mutation SNP G G T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr12:72893350G>T ENST00000261180.4 + 6 1618 c.1522G>T c.(1522-1524)Gta>Tta p.V508L NM_013381.2 NP_037513.1 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 508 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 TTCCCATCCAGTATCACAGGA 0.453000 19 38 2.37509e-13 2.75594e-13 1 1 0 HSP90AB2P 391634 broad.mit.edu 37 4 13338260 13338260 + RNA SNP A A G TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr4:13338260A>G ENST00000602906.1 + 0 278 kidney(3)|lung(1) 4 GATGCCTTGGACAAGATTCGC 0.423000 33 41 0 0 1 0 0 TCP10L2 401285 broad.mit.edu 37 6 167585686 167585686 + Silent SNP G G A rs35001773 TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr6:167585686G>A ENST00000366832.2 + 2 185 c.54G>A c.(52-54)gaG>gaA p.E18E NM_001145121.1 NP_001138593.1 B9ZVM9 B9ZVM9_HUMAN t-complex 10-like 2 18 endometrium(1)|kidney(2)|lung(3) 6 CCCACCCAGAGGACCCGTGCC 0.662000 7 16 0 0 1 0 0 GCC2 9648 broad.mit.edu 37 2 109098878 109098878 + Missense_Mutation SNP G G C TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr2:109098878G>C ENST00000309863.6 + 11 4030 c.3316G>C c.(3316-3318)Gaa>Caa p.E1106Q NM_181453.3 NP_852118.1 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain containing 2 1106 Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 ATTAGAAGCTGAAAAACTTCA 0.318000 12 17 0 0 1 0 0 CCDC47 57003 broad.mit.edu 37 17 61833645 61833645 + Silent SNP G G A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr17:61833645G>A ENST00000225726.5 - 8 1285 c.903C>T c.(901-903)atC>atT p.I301I CCDC47_ENST00000403162.3_Silent_p.I301I|CCDC47_ENST00000582252.1_Silent_p.I301I NM_020198.2 NP_064583.2 Q96A33 CCD47_HUMAN coiled-coil domain containing 47 301 integral to membrane protein binding endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1) 18 TCTCTGACAGGATGGCCAAAG 0.438000 38 79 0 0 1 0 0 AKAP13 11214 broad.mit.edu 37 15 86265490 86265490 + Missense_Mutation SNP G G T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr15:86265490G>T ENST00000394518.2 + 25 6503 c.6408G>T c.(6406-6408)agG>agT p.R2136S AKAP13_ENST00000394510.2_Missense_Mutation_p.R381S|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Missense_Mutation_p.R2140S NM_001270546.1|NM_007200.3 NP_001257475.1|NP_009131.2 Q12802 AKP13_HUMAN A kinase (PRKA) anchor protein 13 2136 DH.|Interaction with ESR1. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 98 TTGTTAGAAGGCTTGGAATTC 0.428000 72 157 2.14232e-31 2.94016e-31 1 1 0 NAV3 89795 broad.mit.edu 37 12 78225255 78225255 + Missense_Mutation SNP G G T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr12:78225255G>T ENST00000397909.2 + 1 187 c.14G>T c.(13-15)gGg>gTg p.G5V NAV3_ENST00000228327.6_Missense_Mutation_p.G5V|NAV3_ENST00000536525.2_Missense_Mutation_p.G5V|NAV3_ENST00000266692.7_Missense_Mutation_p.G5V Q8IVL0 NAV3_HUMAN neuron navigator 3 5 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 CCTGTTCTTGGGGTTGCCTCA 0.453000 HNSCC(70;0.22) 52 91 3.30226e-22 4.30918e-22 1 1 0 PCDH7 5099 broad.mit.edu 37 4 30725689 30725689 + Missense_Mutation SNP T T A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr4:30725689T>A ENST00000361762.2 + 1 3653 c.2645T>A c.(2644-2646)aTt>aAt p.I882N PCDH7_ENST00000543491.1_Missense_Mutation_p.I882N NM_002589.2 NP_002580.2 O60245 PCDH7_HUMAN protocadherin 7 882 homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 55 AGTATTGTCATTGGCGTGGTT 0.438000 53 105 0 0 1 0 0 LRRC6 23639 broad.mit.edu 37 8 133673713 133673713 + Silent SNP C C T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr8:133673713C>T ENST00000519595.1 - 2 269 c.171G>A c.(169-171)ggG>ggA p.G57G LRRC6_ENST00000250173.1_Silent_p.G57G|LRRC6_ENST00000520446.1_5'UTR|LRRC6_ENST00000518642.1_Silent_p.G57G Q86X45 LRRC6_HUMAN leucine rich repeat containing 6 57 cytoplasm breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2) 34 Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) TACCAATTTTCCCAATAAGAT 0.338000 6 23 0 0 1 0 0 WDR37 22884 broad.mit.edu 37 10 1118122 1118122 + Silent SNP G G T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr10:1118122G>T ENST00000358220.1 + 2 171 c.27G>T c.(25-27)tcG>tcT p.S9S WDR37_ENST00000263150.4_Silent_p.S9S|WDR37_ENST00000381329.1_Silent_p.S9S Q9Y2I8 WDR37_HUMAN WD repeat domain 37 9 breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1) 17 all_epithelial(10;0.0449)|Colorectal(49;0.142) Epithelial(11;0.134) CAAGTTGTTCGACTGCTCGCC 0.463000 35 66 4.90274e-10 5.43535e-10 1 1 0 DDB1 1642 broad.mit.edu 37 11 61081147 61081147 + Missense_Mutation SNP C C G TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr11:61081147C>G ENST00000301764.7 - 16 2290 c.1893G>C c.(1891-1893)ttG>ttC p.L631F DDB1_ENST00000450997.2_Intron NM_001923.4 NP_001914.3 Q16531 DDB1_HUMAN damage-specific DNA binding protein 1, 127kDa 631 Interaction with CDT1.|Interaction with CUL4A. cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm damaged DNA binding|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 48 GCTGGGTGCCCAAAGTCACCT 0.483000 Nucleotide excision repair (NER) 10 5 0 0 1 0 0 RBBP9 10741 broad.mit.edu 37 20 18470621 18470621 + Silent SNP G G A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr20:18470621G>A ENST00000337227.4 - 5 423 c.348C>T c.(346-348)cgC>cgT p.R116R RBBP9_ENST00000493184.1_5'UTR NM_006606.2 NP_006597.2 O75884 RBBP9_HUMAN retinoblastoma binding protein 9 116 cytoplasm|nucleus hydrolase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|prostate(1) 9 ACTGCCAGGGGCGGGTGAAGT 0.473000 5 8 0 0 1 0 0 PCDHB10 56126 broad.mit.edu 37 5 140573768 140573768 + Missense_Mutation SNP G G T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr5:140573768G>T ENST00000239446.4 + 1 1827 c.1643G>T c.(1642-1644)cGc>cTc p.R548L NM_018930.3 NP_061753.1 Q9UN67 PCDBA_HUMAN 548 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding p.R548H(1) breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 76 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCGCTGGTGCGCGTGCTGGTG 0.721000 24 49 4.7796e-09 5.21173e-09 1 1 0 POLQ 10721 broad.mit.edu 37 3 121207289 121207289 + Missense_Mutation SNP C C A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr3:121207289C>A ENST00000264233.5 - 16 4617 c.4489G>T c.(4489-4491)Gac>Tac p.D1497Y NM_199420.3 NP_955452.3 O75417 DPOLQ_HUMAN polymerase (DNA directed), theta 1497 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 GBM - Glioblastoma multiforme(114;0.0915) ACTAGATAGTCATCACTGAAG 0.358000 DNA polymerases (catalytic subunits) 52 23 2.97546e-10 3.31717e-10 1 1 0 TENM2 57451 broad.mit.edu 37 5 167420020 167420020 + Missense_Mutation SNP C C G TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr5:167420020C>G ENST00000519204.1 + 4 774 c.656C>G c.(655-657)aCc>aGc p.T219S TENM2_ENST00000520394.1_Missense_Mutation_p.T149S|TENM2_ENST00000545108.1_Missense_Mutation_p.T340S|TENM2_ENST00000403607.2_Missense_Mutation_p.T173S|TENM2_ENST00000518659.1_Missense_Mutation_p.T340S teneurin transmembrane protein 2 TACCCTTTGACCTCAGGAACG 0.572000 64 32 0 0 1 0 0 LTBP4 8425 broad.mit.edu 37 19 41105433 41105433 + Silent SNP A A G TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr19:41105433A>G ENST00000308370.7 + 3 312 c.312A>G c.(310-312)agA>agG p.R104R LTBP4_ENST00000545697.1_5'UTR|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000204005.9_Silent_p.R67R NM_001042544.1 NP_001036009.1 Q8N2S1 LTBP4_HUMAN latent transforming growth factor beta binding protein 4 104 growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity central_nervous_system(1) 1 Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384) TGAGGAAGAGACAGGTGTCCC 0.637000 63 30 0 0 1 0 0 SORCS3 22986 broad.mit.edu 37 10 106737182 106737182 + Missense_Mutation SNP C C G TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr10:106737182C>G ENST00000369701.3 + 4 1112 c.885C>G c.(883-885)ttC>ttG p.F295L NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 295 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) GGCTCACCTTCTATATCCAGA 0.443000 20 28 0 0 1 0 0 OR4A15 81328 broad.mit.edu 37 11 55135632 55135632 + Silent SNP G G T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr11:55135632G>T ENST00000314706.3 + 1 273 c.273G>T c.(271-273)ctG>ctT p.L91L NM_001005275.1 NP_001005275.1 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, member 15 91 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 71 ACTTTTTTCTGGCTTCTTTAT 0.423000 56 71 2.17656e-39 3.10491e-39 1 1 0 HAVCR2 84868 broad.mit.edu 37 5 156514229 156514229 + Missense_Mutation SNP T T A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr5:156514229T>A ENST00000307851.4 - 7 1520 c.790A>T c.(790-792)Atc>Ttc p.I264F HAVCR2_ENST00000522593.1_Missense_Mutation_p.I236F NM_032782.4 NP_116171.3 Q8TDQ0 HAVR2_HUMAN hepatitis A virus cellular receptor 2 264 integral to membrane cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 22 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) ATGGTATAGATGTTTTCTTCT 0.473000 7 47 0 0 1 0 0 CCDC73 493860 broad.mit.edu 37 11 32781805 32781805 + Splice_Site SNP C C T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr11:32781805C>T ENST00000531481.1 - 2 262 c.e2-1 CCDC73_ENST00000534415.1_Splice_Site|CCDC73_ENST00000335185.5_Splice_Site Q6ZRK6 CCD73_HUMAN coiled-coil domain containing 73 NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 51 Breast(20;0.112) TATTTATTTCCTGTAATGTAA 0.284000 15 32 0 0 1 0 0 UBE2NL 389898 broad.mit.edu 37 X 142967630 142967630 + Missense_Mutation SNP C C A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chrX:142967630C>A ENST00000370494.1 + 1 458 c.428C>A c.(427-429)gCa>gAa p.A143E NM_001012989.1 NP_001013007.1 Q5JXB2 UE2NL_HUMAN ubiquitin-conjugating enzyme E2N-like 143 acid-amino acid ligase activity breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1) 24 Acute lymphoblastic leukemia(192;6.56e-05) ACAGCTAGAGCATGGACTAGG 0.428000 147 23 3.18226e-76 4.85265e-76 1 1 0 NOX4 50507 broad.mit.edu 37 11 89133480 89133480 + Missense_Mutation SNP C C G TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr11:89133480C>G ENST00000535633.1 - 10 1152 c.842G>C c.(841-843)aGc>aCc p.S281T NOX4_ENST00000527956.1_Missense_Mutation_p.S281T|NOX4_ENST00000534731.1_Missense_Mutation_p.S305T|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000528341.1_Missense_Mutation_p.S280T|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000413594.2_Missense_Mutation_p.S326T|NOX4_ENST00000532825.1_Missense_Mutation_p.S281T|NOX4_ENST00000424319.1_Missense_Mutation_p.S281T|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000527626.1_Missense_Mutation_p.S139T|NOX4_ENST00000263317.4_Missense_Mutation_p.S305T|NOX4_ENST00000343727.5_Missense_Mutation_p.S281T|NOX4_ENST00000542487.1_Missense_Mutation_p.S281T NM_001143836.1|NM_016931.3 NP_001137308.1|NP_058627.1 Q9NPH5 NOX4_HUMAN NADPH oxidase 4 305 Ferric oxidoreductase.|Mediates interaction with TLR4. cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2) 44 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011) TGGCTTATTGCTCCGGATATA 0.408000 18 111 0 0 1 0 0 MYLK3 91807 broad.mit.edu 37 16 46755046 46755046 + Silent SNP C C A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr16:46755046C>A ENST00000394809.4 - 9 2089 c.1974G>T c.(1972-1974)ggG>ggT p.G658G MYLK3_ENST00000536476.1_Silent_p.G317G NM_182493.2 NP_872299.2 Q32MK0 MYLK3_HUMAN myosin light chain kinase 3 658 Protein kinase. cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis cytosol ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3) 37 all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) TTCTGGCCAGCCCAAAGTCAA 0.453000 53 54 3.77215e-22 4.90627e-22 1 1 0 RGS3 5998 broad.mit.edu 37 9 116226104 116226104 + Missense_Mutation SNP G G A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr9:116226104G>A ENST00000317613.6 + 1 93 c.22G>A c.(22-24)Gtc>Atc p.V8I RGS3_ENST00000350696.5_Intron|RGS3_ENST00000374140.2_Intron NM_017790.3 NP_060260.3 P49796 RGS3_HUMAN regulator of G-protein signaling 3 0 inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway cytosol|nucleus|plasma membrane GTPase activator activity|signal transducer activity cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 48 CCTGCACCGCGTCTCCCTCGG 0.687000 33 6 0 0 1 0 0 SLC10A2 6555 broad.mit.edu 37 13 103718317 103718317 + Missense_Mutation SNP G G T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr13:103718317G>T ENST00000245312.3 - 1 879 c.283C>A c.(283-285)Ctc>Atc p.L95I NM_000452.2 NP_000443.1 Q12908 NTCP2_HUMAN solute carrier family 10 (sodium/bile acid cotransporter), member 2 95 bile acid metabolic process|organic anion transport integral to plasma membrane bile acid:sodium symporter activity breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) ACGGCCTGGAGCGGGAGGATG 0.547000 53 16 1.84395e-34 2.55712e-34 1 1 0 MGA 23269 broad.mit.edu 37 15 42041930 42041930 + Missense_Mutation SNP G G C TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr15:42041930G>C ENST00000219905.7 + 17 6306 c.6125G>C c.(6124-6126)tGt>tCt p.C2042S MGA_ENST00000545763.1_Missense_Mutation_p.C1833S|MGA_ENST00000566586.1_Missense_Mutation_p.C1833S|MGA_ENST00000570161.1_Missense_Mutation_p.C2042S|MGA_ENST00000389936.4_Missense_Mutation_p.C2003S NM_001164273.1 NP_001157745.1 Q8IWI9 MGAP_HUMAN MGA, MAX dimerization protein 2003 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) GAAGAAGGTTGTGCAACTGTC 0.408000 65 106 0 0 1 0 0 NCOR2 9612 broad.mit.edu 37 12 124882717 124882717 + Missense_Mutation SNP C C G TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr12:124882717C>G ENST00000356219.3 - 17 1979 c.1824G>C c.(1822-1824)gaG>gaC p.E608D NCOR2_ENST00000404621.1_Missense_Mutation_p.E607D|NCOR2_ENST00000397355.1_Missense_Mutation_p.E608D|NCOR2_ENST00000404121.2_Missense_Mutation_p.E178D|NCOR2_ENST00000429285.2_Missense_Mutation_p.E607D|NCOR2_ENST00000405201.1_Missense_Mutation_p.E608D NM_006312.5 NP_006303.4 Q9Y618 NCOR2_HUMAN nuclear receptor corepressor 2 608 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) TCTCATTCAGCTCCATGGAGG 0.537000 43 31 0 0 1 0 0 FTHL17 53940 broad.mit.edu 37 X 31089931 31089931 + Missense_Mutation SNP A A G TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chrX:31089931A>G ENST00000359202.3 - 1 239 c.140T>C c.(139-141)gTg>gCg p.V47A NM_031894.2 NP_114100.1 Q9BXU8 FHL17_HUMAN ferritin, heavy polypeptide-like 17 47 Ferritin-like diiron. cellular iron ion homeostasis|iron ion transport ferric iron binding|oxidoreductase activity endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 23 CTCCAGGGCCACGTCGTCCCG 0.592000 78 11 0 0 1 0 0 NETO2 81831 broad.mit.edu 37 16 47117638 47117638 + Missense_Mutation SNP C C T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr16:47117638C>T ENST00000562435.1 - 9 1456 c.1072G>A c.(1072-1074)Gtc>Atc p.V358I NETO2_ENST00000303155.5_Missense_Mutation_p.V351I NM_018092.4 NP_060562.3 Q8NC67 NETO2_HUMAN neuropilin (NRP) and tolloid (TLL)-like 2 358 integral to membrane receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 29 all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174) AGGACCAAGACAATCCCTGAA 0.358000 HNSCC(25;0.065) 21 64 0 0 1 0 0 DGKK 139189 broad.mit.edu 37 X 50129405 50129405 + RNA SNP G G T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chrX:50129405G>T ENST00000376025.2 - 0 2357 Q5KSL6 DGKK_HUMAN diacylglycerol kinase, kappa activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(276;0.236) GGAGACTCTGGGCCTTTGTAG 0.463000 39 10 4.18559e-23 5.4979e-23 1 1 0 ABCB8 11194 broad.mit.edu 37 7 150730816 150730816 + Missense_Mutation SNP G G T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr7:150730816G>T ENST00000358849.4 + 2 313 c.220G>T c.(220-222)Gtt>Ttt p.V74F ABCB8_ENST00000356058.4_Missense_Mutation_p.V111F|ABCB8_ENST00000498578.1_Missense_Mutation_p.V74F|ABCB8_ENST00000542328.1_Intron|ABCB8_ENST00000493338.1_3'UTR|ABCB8_ENST00000297504.6_Missense_Mutation_p.V91F|ABCB8_ENST00000477719.1_Missense_Mutation_p.V74F|ABCB8_ENST00000477092.1_Missense_Mutation_p.V74F NM_007188.3 NP_009119.2 Q9NUT2 ABCB8_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 8 91 ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 26 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CTGGTGCTGGGTTGGGGGAGC 0.692000 42 50 4.44712e-29 6.0408e-29 1 1 0 PALM2-AKAP2 445815 broad.mit.edu 37 9 112900123 112900123 + Nonsense_Mutation SNP C C T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr9:112900123C>T ENST00000374530.3 + 8 2479 c.2299C>T c.(2299-2301)Cga>Tga p.R767* AKAP2_ENST00000374525.1_Nonsense_Mutation_p.R625*|PALM2-AKAP2_ENST00000302798.7_Nonsense_Mutation_p.R767*|AKAP2_ENST00000510514.5_Nonsense_Mutation_p.R767*|AKAP2_ENST00000434623.2_Nonsense_Mutation_p.R625*|AKAP2_ENST00000259318.7_Nonsense_Mutation_p.R536*|AKAP2_ENST00000555236.1_Nonsense_Mutation_p.R767* NM_007203.4|NM_147150.2 NP_009134.1|NP_671492.1 Q9Y2D5 AKAP2_HUMAN 536 enzyme binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 44 CTCAGAGGGCCGAGGAGAAGG 0.532000 24 63 0 0 1 0 0 PNN 5411 broad.mit.edu 37 14 39646860 39646860 + Missense_Mutation SNP G G A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr14:39646860G>A ENST00000216832.4 + 5 458 c.391G>A c.(391-393)Gat>Aat p.D131N PNN_ENST00000556530.1_3'UTR|PNN_ENST00000553331.1_Intron NM_002687.3 NP_002678.2 Q9H307 PININ_HUMAN pinin, desmosome associated protein 131 Necessary for interaction with RNPS1.|Necessary for mediating alternative 5' splicing. cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck DNA binding|protein binding|structural molecule activity breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1) 27 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0119) CCTTATCCAGGATCAAAATAT 0.388000 38 252 0 0 1 0 0 TKTL2 84076 broad.mit.edu 37 4 164394359 164394359 + Missense_Mutation SNP C C G TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr4:164394359C>G ENST00000280605.3 - 1 688 c.528G>C c.(526-528)ttG>ttC p.L176F NM_032136.4 NP_115512.3 Q9H0I9 TKTL2_HUMAN transketolase-like 2 176 cytoplasm metal ion binding|transketolase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 70 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) CGAGATTGTCCAAGTTGTAGT 0.552000 39 8 0 0 1 0 0 ANK2 287 broad.mit.edu 37 4 114257891 114257891 + Silent SNP T T C TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr4:114257891T>C ENST00000357077.4 + 31 3803 c.3750T>C c.(3748-3750)ggT>ggC p.G1250G ANK2_ENST00000264366.6_Silent_p.G1217G|ANK2_ENST00000509550.1_Silent_p.G426G|ANK2_ENST00000504887.1_3'UTR|ANK2_ENST00000506722.1_Silent_p.G1241G|ANK2_ENST00000394537.3_Silent_p.G1250G NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 1217 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) TGTTGAATGGTTTTGGGGGAG 0.408000 62 69 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179594462 179594462 + Missense_Mutation SNP C C A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr2:179594462C>A ENST00000589042.1 - 63 18742 c.18518G>T c.(18517-18519)aGt>aTt p.S6173I TTN_ENST00000591111.1_Missense_Mutation_p.S5856I|TTN_ENST00000342992.6_Missense_Mutation_p.S4929I|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 5856 Ig-like 43. 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) ATAAGTCCCACTATTTTCTAC 0.433000 47 58 6.4308e-24 8.47503e-24 1 1 0 C7orf60 154743 broad.mit.edu 37 7 112461863 112461863 + Missense_Mutation SNP C C G TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr7:112461863C>G ENST00000297145.4 - 5 1319 c.1154G>C c.(1153-1155)gGa>gCa p.G385A NM_152556.2 NP_689769.2 Q1RMZ1 CG060_HUMAN chromosome 7 open reading frame 60 385 breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1) 17 TTGACTTTCTCCAGAATCTGA 0.408000 42 60 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176671783 176671783 + Missense_Mutation SNP G G C TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr1:176671783G>C ENST00000367662.3 + 9 4441 c.3277G>C c.(3277-3279)Gct>Cct p.A1093P NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1093 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 CCAAGTTCTAGCTGAAGCTGG 0.512000 12 45 0 0 1 0 0 CHEK2P2 646096 broad.mit.edu 37 15 20495399 20495399 + RNA SNP C C T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr15:20495399C>T ENST00000555186.1 + 0 602 NR_038836.1 TCAAGATCTTCTGTGTGAGGA 0.403000 11 65 0 0 1 0 0 EFHD2 79180 broad.mit.edu 37 1 15736746 15736746 + Missense_Mutation SNP G G T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr1:15736746G>T ENST00000375980.4 + 1 356 c.279G>T c.(277-279)caG>caT p.Q93H NM_024329.5 NP_077305.2 Q96C19 EFHD2_HUMAN EF-hand domain family, member D2 93 EF-hand 1. membrane raft large_intestine(1)|skin(1) 2 Renal(390;0.00145)|Breast(348;0.00173)|Colorectal(325;0.00215)|all_lung(284;0.00366)|Lung NSC(340;0.00395)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)|Hepatocellular(190;0.152) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.59e-07)|COAD - Colon adenocarcinoma(227;3.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000119)|KIRC - Kidney renal clear cell carcinoma(229;0.00251)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649) CCAGGAAGCAGATCAAGGACA 0.687000 11 61 0.0167234 0.0168932 1 1 0 DLG1 1739 broad.mit.edu 37 3 197009570 197009570 + Missense_Mutation SNP T T A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr3:197009570T>A ENST00000346964.2 - 4 487 c.298A>T c.(298-300)Agc>Tgc p.S100C DLG1_ENST00000450955.1_Missense_Mutation_p.S100C|DLG1_ENST00000422288.1_Missense_Mutation_p.S100C|DLG1_ENST00000419354.1_Missense_Mutation_p.S100C|DLG1_ENST00000392382.2_Missense_Mutation_p.S100C|DLG1_ENST00000485409.1_5'UTR|DLG1_ENST00000357674.4_Missense_Mutation_p.S100C|DLG1_ENST00000314062.3_Missense_Mutation_p.S100C|DLG1_ENST00000448528.2_Missense_Mutation_p.S100C NM_004087.2 NP_004078.2 Q12959 DLG1_HUMAN discs, large homolog 1 (Drosophila) 100 actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 26 all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589) Lung NSC(153;0.133) Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.0148) GGGCTAAGGCTGCTTGGCAGT 0.373000 75 23 0 0 1 0 0 MED20 9477 broad.mit.edu 37 6 41884592 41884592 + Nonsense_Mutation SNP C C A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr6:41884592C>A ENST00000265350.4 - 2 180 c.100G>T c.(100-102)Gag>Tag p.E34* MED20_ENST00000467535.1_5'UTR|MED20_ENST00000409312.1_Nonsense_Mutation_p.E34*|MED20_ENST00000409060.1_Nonsense_Mutation_p.E34* NM_004275.3 NP_004266.2 Q9H944 MED20_HUMAN mediator complex subunit 20 34 regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter mediator complex DNA-directed RNA polymerase activity|protein binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(1)|pancreas(1) 5 Colorectal(47;0.121) STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000367)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) CCTTGCTTCTCTGCCCCAAGC 0.547000 16 91 4.75885e-15 5.72212e-15 1 1 0 NPTX2 4885 broad.mit.edu 37 7 98256543 98256543 + Silent SNP C C A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr7:98256543C>A ENST00000265634.3 + 4 1120 c.955C>A c.(955-957)Cgg>Agg p.R319R NM_002523.2 NP_002514.1 P47972 NPTX2_HUMAN neuronal pentraxin II 319 Pentaxin. synaptic transmission extracellular region metal ion binding|sugar binding breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 18 all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142) STAD - Stomach adenocarcinoma(171;0.215) CTGGACGACACGGGATGGCAT 0.627000 36 71 3.99972e-41 5.78868e-41 1 1 0 FSD1 79187 broad.mit.edu 37 19 4318438 4318438 + Missense_Mutation SNP G G T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr19:4318438G>T ENST00000221856.6 + 9 1042 c.895G>T c.(895-897)Gat>Tat p.D299Y FSD1_ENST00000597590.1_Missense_Mutation_p.D299Y|FSD1_ENST00000598010.1_3'UTR NM_024333.2 NP_077309.1 Q9BTV5 FSD1_HUMAN fibronectin type III and SPRY domain containing 1 299 B30.2/SPRY. cell division|mitosis cleavage furrow|microtubule|microtubule organizing center|nucleus breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 21 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18) GAAGGTGCAGGATATCAAGGC 0.632000 23 13 5.52252e-06 5.79937e-06 1 1 0 FJX1 24147 broad.mit.edu 37 11 35641239 35641239 + Missense_Mutation SNP T T A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr11:35641239T>A ENST00000317811.4 + 1 1505 c.1055T>A c.(1054-1056)aTg>aAg p.M352K FJX1_ENST00000532914.1_3'UTR NM_014344.3 NP_055159.2 Q86VR8 FJX1_HUMAN four jointed box 1 (Drosophila) 352 extracellular space lung(1)|urinary_tract(1) 2 all_cancers(35;0.177)|all_lung(20;0.0238)|Lung NSC(22;0.0494)|all_epithelial(35;0.0739) all_hematologic(20;0.107) GTAGCAGGCATGTGGGACAAG 0.682000 8 11 0 0 1 0 0 EXTL3 2137 broad.mit.edu 37 8 28575527 28575527 + Missense_Mutation SNP C C G TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr8:28575527C>G ENST00000220562.4 + 3 2853 c.1951C>G c.(1951-1953)Cag>Gag p.Q651E EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Missense_Mutation_p.Q267E NM_001440.2 NP_001431.1 O43909 EXTL3_HUMAN exostosin-like glycosyltransferase 3 651 integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1) 36 Ovarian(32;0.069) KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228) CAAGGAATTTCAGGCAGCGCT 0.542000 10 78 0 0 1 0 0 ZBTB16 7704 broad.mit.edu 37 11 113934379 113934379 + Silent SNP G G A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr11:113934379G>A ENST00000335953.4 + 2 737 c.357G>A c.(355-357)ctG>ctA p.L119L ZBTB16_ENST00000392996.2_Silent_p.L119L NM_006006.4 NP_005997.2 Q05516 ZBT16_HUMAN zinc finger and BTB domain containing 16 119 apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent nuclear speck|PML body|transcriptional repressor complex protein homodimerization activity|zinc ion binding central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2) 6 all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438) BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018) AACAGTGCCTGAAGATGCTGG 0.607000 44 16 0 0 1 0 0 IRX2 153572 broad.mit.edu 37 5 2749726 2749726 + Missense_Mutation SNP G G C TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr5:2749726G>C ENST00000382611.6 - 2 673 c.425C>G c.(424-426)cCc>cGc p.P142R IRX2_ENST00000302057.5_Missense_Mutation_p.P142R|IRX2_ENST00000502957.1_5'UTR NM_001134222.1 NP_001127694.1 Q9BZI1 IRX2_HUMAN iroquois homeobox 2 142 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2) 26 GBM - Glioblastoma multiforme(108;0.204) GCCCTTGGTGGGGTAGGGGTT 0.642000 47 91 0 0 1 0 0 TMEM70 54968 broad.mit.edu 37 8 74893845 74893845 + Missense_Mutation SNP G G A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr8:74893845G>A ENST00000312184.5 + 3 845 c.772G>A c.(772-774)Gat>Aat p.D258N NM_001040613.2|NM_017866.5 NP_001035703.1|NP_060336.3 Q9BUB7 TMM70_HUMAN transmembrane protein 70 258 mitochondrial proton-transporting ATP synthase complex assembly integral to mitochondrial membrane|mitochondrial inner membrane breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1) 8 Breast(64;0.0311) Epithelial(68;0.0186)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0564) ACGGCATAAAGATGACAAATG 0.333000 28 6 0 0 1 0 0 SULT4A1 25830 broad.mit.edu 37 22 44237733 44237733 + Missense_Mutation SNP G G C TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr22:44237733G>C ENST00000330884.4 - 2 369 c.249C>G c.(247-249)gaC>gaG p.D83E SULT4A1_ENST00000540422.1_Intron|SULT4A1_ENST00000249130.5_Missense_Mutation_p.D83E NM_014351.3 NP_055166.1 Q9BR01 ST4A1_HUMAN sulfotransferase family 4A, member 1 83 3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process cytosol sulfotransferase activity kidney(1)|large_intestine(3)|lung(4)|ovary(1) 9 Ovarian(80;0.024)|all_neural(38;0.0416) Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419) GGAGCTGCTCGTCGATGTTCA 0.617000 88 25 0 0 1 0 0 SPOCK3 50859 broad.mit.edu 37 4 167675786 167675786 + Silent SNP T T A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr4:167675786T>A ENST00000357154.3 - 9 950 c.813A>T c.(811-813)tcA>tcT p.S271S SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000512681.1_Silent_p.S173S|SPOCK3_ENST00000541637.1_Silent_p.S173S|SPOCK3_ENST00000506886.1_Silent_p.S271S|SPOCK3_ENST00000421836.2_Silent_p.S220S|SPOCK3_ENST00000511531.1_Silent_p.S271S|SPOCK3_ENST00000504953.1_Silent_p.S268S|SPOCK3_ENST00000511269.1_Silent_p.S268S|SPOCK3_ENST00000541354.1_Silent_p.S151S|SPOCK3_ENST00000535728.1_Silent_p.S139S|SPOCK3_ENST00000502330.1_Silent_p.S271S|SPOCK3_ENST00000534949.1_Silent_p.S175S|SPOCK3_ENST00000510741.1_Silent_p.S228S|SPOCK3_ENST00000512648.1_Silent_p.S268S|SPOCK3_ENST00000357545.4_Silent_p.S268S NM_016950.2 NP_058646.2 Q9BQ16 TICN3_HUMAN sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 271 signal transduction proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase inhibitor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 38 all_hematologic(180;0.221) Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198) GBM - Glioblastoma multiforme(119;0.02) TTCTGAGCTCTGACTGGTCCA 0.388000 103 28 0 0 1 0 0 XRN1 54464 broad.mit.edu 37 3 142084003 142084003 + Missense_Mutation SNP C C T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr3:142084003C>T ENST00000264951.4 - 29 3397 c.3280G>A c.(3280-3282)Gga>Aga p.G1094R XRN1_ENST00000392981.2_Missense_Mutation_p.G1094R NM_019001.3 NP_061874.3 Q8IZH2 XRN1_HUMAN 5'-3' exoribonuclease 1 1094 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 GGAATGACTCCATGTTGCTGT 0.363000 77 17 0 0 1 0 0 WDR6 11180 broad.mit.edu 37 3 49049995 49049995 + Missense_Mutation SNP A A G TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr3:49049995A>G ENST00000395474.3 + 2 1398 c.1118A>G c.(1117-1119)aAg>aGg p.K373R WDR6_ENST00000415265.2_Intron|WDR6_ENST00000489684.1_3'UTR|WDR6_ENST00000448293.1_Missense_Mutation_p.K292R NM_018031.3 NP_060501.3 Q9NNW5 WDR6_HUMAN WD repeat domain 6 343 cell cycle arrest|negative regulation of cell proliferation cytoplasm breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155) CTCTGCTTCAAGTCCCGTAGT 0.602000 89 34 0 0 1 0 0 PRAMEF10 343071 broad.mit.edu 37 1 12954977 12954977 + Silent SNP C C A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr1:12954977C>A ENST00000235347.4 - 3 385 c.306G>T c.(304-306)gtG>gtT p.V102V NM_001039361.3 NP_001034450.2 O60809 PRA10_HUMAN PRAME family member 10 102 NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 12 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GCAAATCCAGCACTTGAAGTT 0.527000 45 143 7.1157e-29 9.60016e-29 1 1 0 GRSF1 2926 broad.mit.edu 37 4 71697287 71697287 + Missense_Mutation SNP G G C TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr4:71697287G>C ENST00000254799.6 - 5 1036 c.919C>G c.(919-921)Ctg>Gtg p.L307V GRSF1_ENST00000545193.1_Missense_Mutation_p.L189V|GRSF1_ENST00000439371.1_Missense_Mutation_p.L145V|GRSF1_ENST00000508091.1_Intron|GRSF1_ENST00000502323.1_Missense_Mutation_p.L145V NM_002092.3 NP_002083.3 Q12849 GRSF1_HUMAN G-rich RNA sequence binding factor 1 307 RRM 2. mRNA polyadenylation mRNA binding|nucleotide binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2) 17 all_hematologic(202;0.21) Lung(101;0.235) TGTTTCAACAGGGCTTGGTTG 0.393000 33 45 0 0 1 0 0 PLBD2 196463 broad.mit.edu 37 12 113821954 113821954 + Missense_Mutation SNP G G T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr12:113821954G>T ENST00000280800.3 + 7 1033 c.1002G>T c.(1000-1002)tgG>tgT p.W334C PLBD2_ENST00000545182.2_Missense_Mutation_p.W334C NM_173542.3 NP_775813.2 Q8NHP8 PLBL2_HUMAN phospholipase B domain containing 2 334 lipid catabolic process lysosomal lumen hydrolase activity breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1) 13 CAGCCCTGTGGAAGTATGTGC 0.622000 25 20 1.30897e-18 1.63314e-18 1 1 0 PROKR1 10887 broad.mit.edu 37 2 68882524 68882524 + Missense_Mutation SNP G G A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr2:68882524G>A ENST00000303786.3 + 3 1418 c.998G>A c.(997-999)aGc>aAc p.S333N PROKR1_ENST00000394342.2_Missense_Mutation_p.S333N Q8TCW9 PKR1_HUMAN prokineticin receptor 1 333 integral to membrane|plasma membrane neuropeptide Y receptor activity endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 ATCGCCATGAGCAACAGCATG 0.498000 36 74 0 0 1 0 0 TUBB8P7 197331 broad.mit.edu 37 16 90162620 90162620 + RNA SNP T T G TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr16:90162620T>G ENST00000564451.1 + 0 1973 CTAGGTAAAGTGGGGAAGCAG 0.483000 4 132 0 0 1 0 0 EPHA5 2044 broad.mit.edu 37 4 66280007 66280007 + Missense_Mutation SNP G G A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr4:66280007G>A ENST00000273854.3 - 7 2282 c.1682C>T c.(1681-1683)cCa>cTa p.P561L EPHA5_ENST00000511294.1_Missense_Mutation_p.P561L|EPHA5_ENST00000354839.4_Missense_Mutation_p.P561L|EPHA5_ENST00000432638.2_Missense_Mutation_p.P397L NM_004439.5 NP_004430.4 P54756 EPHA5_HUMAN EPH receptor A5 561 cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 142 CTTACACACTGGGGTGGTTTC 0.453000 TSP Lung(17;0.13) 65 93 0 0 1 0 0 PLCB4 5332 broad.mit.edu 37 20 9416281 9416281 + Missense_Mutation SNP A A T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr20:9416281A>T ENST00000378501.2 + 25 2578 c.2563A>T c.(2563-2565)Atg>Ttg p.M855L PLCB4_ENST00000414679.2_Missense_Mutation_p.M867L|PLCB4_ENST00000334005.3_Missense_Mutation_p.M855L|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000278655.4_Missense_Mutation_p.M855L|PLCB4_ENST00000378473.3_Missense_Mutation_p.M867L|PLCB4_ENST00000378493.1_Missense_Mutation_p.M855L NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 855 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 AATGAGAGCTATGGGCATTGA 0.363000 15 32 0 0 1 0 0 ARHGAP30 257106 broad.mit.edu 37 1 161021161 161021161 + Missense_Mutation SNP G G A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr1:161021161G>A ENST00000368013.3 - 10 1683 c.1363C>T c.(1363-1365)Cgg>Tgg p.R455W ARHGAP30_ENST00000368016.3_Missense_Mutation_p.R455W|ARHGAP30_ENST00000368015.1_Missense_Mutation_p.R278W NM_001025598.1|NM_181720.2 NP_001020769.1|NP_859071.2 Q7Z6I6 RHG30_HUMAN Rho GTPase activating protein 30 455 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00122) gggcttggCCGGTGCTGTAGA 0.622000 3 39 0 0 1 0 0 AKR7A2 8574 broad.mit.edu 37 1 19632559 19632559 + Missense_Mutation SNP C C T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr1:19632559C>T ENST00000235835.3 - 6 892 c.871G>A c.(871-873)Gtg>Atg p.V291M NM_003689.3 NP_003680.2 O43488 ARK72_HUMAN aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase) 291 carbohydrate metabolic process|cellular aldehyde metabolic process Golgi apparatus alditol:NADP+ 1-oxidoreductase activity|electron carrier activity central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 9 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) GCCGAGGTCACACTGGGGGCG 0.637000 43 46 0 0 1 0 0 RCC2 55920 broad.mit.edu 37 1 17765020 17765020 + Splice_Site SNP T T C TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr1:17765020T>C ENST00000375436.4 - 2 180 c.e2-2 RCC2_ENST00000375433.3_5'UTR NM_018715.3 NP_061185.1 Q9P258 RCC2_HUMAN regulator of chromosome condensation 2 cell division|mitotic prometaphase chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4) 17 Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19) TGGTCGCGGCTGGAGGGAGAC 0.736000 13 13 0 0 1 0 0 LYZL1 84569 broad.mit.edu 37 10 29581597 29581597 + Missense_Mutation SNP G G T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr10:29581597G>T ENST00000375500.3 + 3 484 c.427G>T c.(427-429)Gcc>Tcc p.A143S NM_032517.4 NP_115906.3 Q6UWQ5 LYZL1_HUMAN lysozyme-like 1 97 cell wall macromolecule catabolic process extracellular region lysozyme activity central_nervous_system(1)|cervix(2)|large_intestine(2)|lung(5)|skin(1) 11 Breast(68;0.203) CTGCCATGTCGCCTGCTCAGG 0.532000 105 90 2.59595e-41 3.77077e-41 1 1 0 TCP10L 140290 broad.mit.edu 37 21 33956574 33956574 + Missense_Mutation SNP C C T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr21:33956574C>T ENST00000300258.3 - 2 154 c.41G>A c.(40-42)gGc>gAc p.G14D NM_144659.5 NP_653260.1 t-complex 10-like breast(1)|central_nervous_system(1)|liver(1)|skin(1) 4 TGGGTGGGTGCCCTCTTTGGG 0.627000 26 39 0 0 1 0 0 KALRN 8997 broad.mit.edu 37 3 124193534 124193534 + Silent SNP G G A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr3:124193534G>A ENST00000360013.3 + 26 4177 c.4050G>A c.(4048-4050)aaG>aaA p.K1350K KALRN_ENST00000240874.3_Silent_p.K1350K|KALRN_ENST00000460856.1_Silent_p.K1341K NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 1350 DH 1. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 AGCTGGAGAAGTACGAGCAAC 0.527000 70 25 0 0 1 0 0 CD300LB 124599 broad.mit.edu 37 17 72518979 72518979 + Silent SNP G G A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr17:72518979G>A ENST00000392621.1 - 4 619 c.615C>T c.(613-615)gcC>gcT p.A205A NM_174892.2 NP_777552.2 A8K4G0 CLM7_HUMAN CD300 molecule-like family member b 168 integral to membrane|plasma membrane receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1) 21 ACCAGAGGATGGCAGTGACCA 0.552000 35 47 0 0 1 0 0 GDF5 8200 broad.mit.edu 37 20 34025349 34025349 + Silent SNP C C A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr20:34025349C>A ENST00000374372.1 - 3 863 c.360G>T c.(358-360)cgG>cgT p.R120R GDF5_ENST00000374369.3_Silent_p.R120R P43026 GDF5_HUMAN growth differentiation factor 5 120 cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3) 26 Lung NSC(9;0.00642)|all_lung(11;0.0094) BRCA - Breast invasive adenocarcinoma(18;0.00663) GGGTCACAGTCCGGGCTGTAG 0.637000 18 146 9.7654e-05 0.000101479 1 1 0 CABP2 51475 broad.mit.edu 37 11 67288576 67288576 + Missense_Mutation SNP C C G TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr11:67288576C>G ENST00000294288.4 - 4 368 c.299G>C c.(298-300)tGc>tCc p.C100S CABP2_ENST00000353903.5_Missense_Mutation_p.C43S NM_016366.2 NP_057450.2 Q9NPB3 CABP2_HUMAN calcium binding protein 2 100 EF-hand 1. signal transduction Golgi apparatus|perinuclear region of cytoplasm|plasma membrane calcium ion binding endometrium(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2) 9 CAGCTCCCGGCAGCCAATGTA 0.622000 72 50 0 0 1 0 0 SLC6A15 55117 broad.mit.edu 37 12 85260840 85260840 + Missense_Mutation SNP G G T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr12:85260840G>T ENST00000266682.5 - 10 2169 c.1628C>A c.(1627-1629)gCt>gAt p.A543D SLC6A15_ENST00000552192.1_Missense_Mutation_p.A436D|SLC6A15_ENST00000309283.7_Missense_Mutation_p.A251D NM_182767.5 NP_877499.1 Q9H2J7 S6A15_HUMAN solute carrier family 6 (neutral amino acid transporter), member 15 543 cellular nitrogen compound metabolic process|leucine transport|proline transport integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 44 AAAGCATACAGCAATATTCTC 0.303000 21 51 4.87955e-14 5.7288e-14 1 1 0 MYO3B 140469 broad.mit.edu 37 2 171260906 171260906 + Silent SNP G G T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr2:171260906G>T ENST00000334231.6 + 20 2454 c.2454G>T c.(2452-2454)ctG>ctT p.L818L MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Silent_p.L809L|MYO3B_ENST00000408978.4_Silent_p.L809L Q8WXR4 MYO3B_HUMAN myosin IIIB 809 Myosin head-like. response to stimulus|visual perception cytoplasm|myosin complex actin binding|ATP binding|motor activity|protein serine/threonine kinase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 59 ACCAGACCCTGGTTGGTAGGT 0.438000 25 31 6.38683e-12 7.20102e-12 1 1 0 ZP4 57829 broad.mit.edu 37 1 238053933 238053933 + Translation_Start_Site SNP C C T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr1:238053933C>T ENST00000366570.4 - 1 161 c.3G>A c.(1-3)atG>atA p.M1I RP11-193H5.1_ENST00000450451.1_RNA NM_021186.3 NP_067009.1 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 1 acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) GCAGCAGCCACATAATGCTAC 0.542000 19 9 0 0 1 0 0 PTPN14 5784 broad.mit.edu 37 1 214557235 214557235 + Missense_Mutation SNP C C T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr1:214557235C>T ENST00000366956.5 - 13 2157 c.1963G>A c.(1963-1965)Gcc>Acc p.A655T PTPN14_ENST00000543945.1_3'UTR NM_005401.4 NP_005392.2 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 14 655 lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) AGCGTCATGGCCTCCATGCCC 0.682000 13 34 0 0 1 0 0 PCDHB11 56125 broad.mit.edu 37 5 140579369 140579369 + Missense_Mutation SNP A A C TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr5:140579369A>C ENST00000354757.3 + 1 22 c.22A>C c.(22-24)Act>Cct p.T8P PCDHB11_ENST00000536699.1_5'UTR NM_018931.2 NP_061754.1 Q9Y5F2 PCDBB_HUMAN 8 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding p.T8S(1) NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGGGACACGCACTCAGCAGAT 0.502000 12 9 0 0 1 0 0 DCC 1630 broad.mit.edu 37 18 50918123 50918123 + Missense_Mutation SNP G G T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr18:50918123G>T ENST00000442544.2 + 17 3170 c.2554G>T c.(2554-2556)Gct>Tct p.A852S DCC_ENST00000412726.1_Missense_Mutation_p.A680S|DCC_ENST00000581580.1_Missense_Mutation_p.A487S NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 852 Fibronectin type-III 5. 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) AGGTGTACAGGCTGTGGCTCT 0.537000 92 135 1.64436e-45 2.43292e-45 1 1 0 MEIS2 4212 broad.mit.edu 37 15 37184625 37184625 + Missense_Mutation SNP C C A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr15:37184625C>A ENST00000338564.5 - 13 1608 c.1162G>T c.(1162-1164)Ggt>Tgt p.G388C MEIS2_ENST00000561208.1_Missense_Mutation_p.G395C|MEIS2_ENST00000559085.1_3'UTR|MEIS2_ENST00000382766.2_Missense_Mutation_p.G388C|MEIS2_ENST00000397620.2_3'UTR|MEIS2_ENST00000424352.2_3'UTR|MEIS2_ENST00000444725.1_3'UTR|MEIS2_ENST00000557796.2_3'UTR|MEIS2_ENST00000340545.5_3'UTR|MEIS2_ENST00000397624.3_3'UTR|MEIS2_ENST00000219869.9_3'UTR NM_001220482.1 NP_001207411.1 O14770 MEIS2_HUMAN Meis homeobox 2 395 negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 36 all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155) all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288) ATAGGACCACCCTGAGAAACG 0.458000 101 152 6.7584e-44 9.96238e-44 1 1 0 CD93 22918 broad.mit.edu 37 20 23066782 23066782 + Silent SNP G G T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr20:23066782G>T ENST00000246006.4 - 1 195 c.48C>A c.(46-48)acC>acA p.T16T NM_012072.3 NP_036204.2 Q9NPY3 C1QR1_HUMAN CD93 molecule 16 cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis plasma membrane calcium ion binding|complement component C1q binding|receptor activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118) CCCCGGGCTGGGTcaggagca 0.726000 6 5 0.00307968 0.00314285 1 1 0 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G G A rs12366766 TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr12:132547087G>A ENST00000333577.4 + 48 8392 c.8283G>A c.(8281-8283)caG>caA p.Q2761Q EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389561.2_Silent_p.Q2725Q Q96L91 EP400_HUMAN E1A binding protein p400 2761 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2724Q(16)|p.Q2725Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcagcaacaacagc 0.562000 3 40 0 0 1 0 0 EVC2 132884 broad.mit.edu 37 4 5682998 5682998 + Missense_Mutation SNP C C T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr4:5682998C>T ENST00000310917.2 - 7 1350 c.619G>A c.(619-621)Gaa>Aaa p.E207K EVC2_ENST00000344408.5_Missense_Mutation_p.E287K|EVC2_ENST00000344938.1_Missense_Mutation_p.E287K NM_001166136.1 NP_001159608.1 Q86UK5 LBN_HUMAN Ellis van Creveld syndrome 2 287 integral to membrane NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 81 GTTACGTTTTCTTCTGCTGTT 0.498000 28 43 0 0 1 0 0 RIPK3 11035 broad.mit.edu 37 14 24807659 24807659 + Missense_Mutation SNP G G A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr14:24807659G>A ENST00000216274.5 - 4 804 c.586C>T c.(586-588)Cgg>Tgg p.R196W NM_006871.3 NP_006862.2 Q9Y572 RIPK3_HUMAN receptor-interacting serine-threonine kinase 3 196 Protein kinase. apoptosis|induction of apoptosis by extracellular signals cytoplasm ATP binding|protein binding|transcription coactivator activity NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 GBM - Glioblastoma multiforme(265;0.0181) GAGGCCTTCCGGTTTACGTTA 0.597000 89 129 0 0 1 0 0 PCDHGA9 56107 broad.mit.edu 37 5 140783111 140783111 + Missense_Mutation SNP C C G TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr5:140783111C>G ENST00000573521.1 + 1 592 c.592C>G c.(592-594)Cgc>Ggc p.R198G PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron NM_018921.2|NM_032089.1 NP_061744.1|NP_114478.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTGCTGGAGCGCGCCCTGGA 0.637000 17 3 0 0 1 0 0 DNAH1 25981 broad.mit.edu 37 3 52383392 52383392 + Missense_Mutation SNP G G A rs141416042 by1000genomes TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr3:52383392G>A ENST00000420323.2 + 14 2743 c.2482G>A c.(2482-2484)Gtg>Atg p.V828M NM_015512.4 NP_056327.4 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 828 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) GGCCACTTCCGTGCTGGACAT 0.577000 22 54 0 0 1 0 0 CXorf21 80231 broad.mit.edu 37 X 30578092 30578092 + Missense_Mutation SNP T T A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chrX:30578092T>A ENST00000378962.3 - 3 703 c.381A>T c.(379-381)ttA>ttT p.L127F NM_025159.2 NP_079435.1 Q9HAI6 CX021_HUMAN chromosome X open reading frame 21 127 kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1) 20 CTGCAATCTGTAAGTCATTAT 0.433000 36 12 0 0 1 0 0 ABCF2 10061 broad.mit.edu 37 7 150918711 150918711 + Missense_Mutation SNP A A T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr7:150918711A>T ENST00000287844.2 - 7 983 c.874T>A c.(874-876)Tgt>Agt p.C292S ABCF2_ENST00000473874.1_5'UTR|ABCF2_ENST00000222388.2_Missense_Mutation_p.C292S NM_007189.1 NP_009120.1 Q9UG63 ABCF2_HUMAN ATP-binding cassette, sub-family F (GCN20), member 2 292 ABC transporter 1. ATP-binding cassette (ABC) transporter complex|mitochondrial envelope ATP binding|ATPase activity|transporter activity breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2) 24 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) ATATTGGTACAGACACCATTC 0.438000 94 191 0 0 1 0 0 ZNF804A 91752 broad.mit.edu 37 2 185803636 185803636 + Silent SNP C C A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr2:185803636C>A ENST00000302277.6 + 4 4107 c.3513C>A c.(3511-3513)atC>atA p.I1171I NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 1171 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 AGATGCCAATCATTCCAGCTT 0.512000 37 127 4.0492e-12 4.57836e-12 1 1 0 FADS6 283985 broad.mit.edu 37 17 72878809 72878809 + Missense_Mutation SNP G G T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr17:72878809G>T ENST00000310226.6 - 3 403 c.389C>A c.(388-390)aCg>aAg p.T130K NM_178128.3 NP_835229.2 Q8N9I5 FADS6_HUMAN fatty acid desaturase 6 136 fatty acid biosynthetic process integral to membrane oxidoreductase activity endometrium(3)|kidney(1)|lung(4) 8 all_lung(278;0.172)|Lung NSC(278;0.207) GTGCCCATGCGTGGCGTGCTC 0.587000 11 15 0.0202918 0.0204459 1 1 0 HECW2 57520 broad.mit.edu 37 2 197172747 197172747 + Missense_Mutation SNP T T A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr2:197172747T>A ENST00000260983.2 - 11 2679 c.2497A>T c.(2497-2499)Acg>Tcg p.T833S HECW2_ENST00000409111.1_Missense_Mutation_p.T477S NM_020760.1 NP_065811.1 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 833 Interaction with TP73.|WW 1. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 113 TGCCACGTCGTGGTTCTGTTT 0.572000 14 31 0 0 1 0 0 HERC2P4 100289574 broad.mit.edu 37 16 32163530 32163530 + RNA SNP C C T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr16:32163530C>T ENST00000564145.1 - 0 65 GTCACGGTGCCTTCTCCAAAC 0.577000 30 76 0 0 1 0 0 ASH1L 55870 broad.mit.edu 37 1 155451467 155451467 + Silent SNP T T A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr1:155451467T>A ENST00000368346.3 - 3 1833 c.1194A>T c.(1192-1194)ggA>ggT p.G398G ASH1L_ENST00000392403.3_Silent_p.G398G|ASH1L_ENST00000548830.1_3'UTR Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) 398 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) TATTAACCAATCCCATTGCTG 0.423000 77 172 0 0 1 0 0 PCDHGB1 56104 broad.mit.edu 37 5 140730107 140730107 + Missense_Mutation SNP G G A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr5:140730107G>A ENST00000523390.1 + 1 280 c.280G>A c.(280-282)Gga>Aga p.G94R PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018922.2|NM_032095.1 NP_061745.1|NP_115266.1 central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1) 16 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAAGATTTGCGGAAGGAAACT 0.423000 OREG0016856 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 39 5 0 0 1 0 0 MKNK1 8569 broad.mit.edu 37 1 47037739 47037739 + Silent SNP G G C TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr1:47037739G>C ENST00000371946.4 - 7 652 c.489C>G c.(487-489)acC>acG p.T163T MKNK1_ENST00000371945.4_Silent_p.T163T|MKNK1_ENST00000428112.2_Silent_p.T163T|MKNK1_ENST00000341183.5_Silent_p.T163T|MKNK1_ENST00000371944.4_Silent_p.T68T NM_003684.5 NP_003675.2 Q9BUB5 MKNK1_HUMAN MAP kinase interacting serine/threonine kinase 1 163 Protein kinase. intracellular protein kinase cascade|peptidyl-serine phosphorylation|regulation of translation cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1) 13 Acute lymphoblastic leukemia(166;0.155) GTTCACCTTTGGTATGCAGGA 0.592000 20 68 0 0 1 0 0 IBTK 25998 broad.mit.edu 37 6 82901516 82901516 + Missense_Mutation SNP T T A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr6:82901516T>A ENST00000306270.7 - 24 3968 c.3419A>T c.(3418-3420)aAg>aTg p.K1140M IBTK_ENST00000503631.1_Missense_Mutation_p.K939M|IBTK_ENST00000510291.1_Missense_Mutation_p.K1125M NM_015525.2 NP_056340.2 Q9P2D0 IBTK_HUMAN inhibitor of Bruton agammaglobulinemia tyrosine kinase 1140 negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol cytoplasm|membrane|nucleus protein kinase binding|protein tyrosine kinase inhibitor activity central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 54 all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037) BRCA - Breast invasive adenocarcinoma(397;0.0901) TAAATGTGACTTTGGTGTAGC 0.358000 10 11 0 0 1 0 0 MAPT 4137 broad.mit.edu 37 17 44061185 44061185 + Missense_Mutation SNP G G C TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr17:44061185G>C ENST00000344290.5 + 6 1337 c.1015G>C c.(1015-1017)Ggc>Cgc p.G339R MAPT_ENST00000420682.2_Intron|MAPT_ENST00000415613.2_Missense_Mutation_p.G339R|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000262410.5_Missense_Mutation_p.G339R|MAPT_ENST00000571987.1_Missense_Mutation_p.G339R|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000431008.3_Intron NM_001123066.3 NP_001116538.2 P10636 TAU_HUMAN microtubule-associated protein tau 339 cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 38 Melanoma(429;0.216) AGAGGCCCGGGGCCCCTCTTT 0.652000 24 28 0 0 1 0 0 NLRP5 126206 broad.mit.edu 37 19 56539519 56539519 + Silent SNP C C T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr19:56539519C>T ENST00000390649.3 + 7 1920 c.1920C>T c.(1918-1920)ctC>ctT p.L640L NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 640 mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) TGTTTGGCCTCGTGAGCGAAG 0.557000 22 9 0 0 1 0 0 NRXN1 9378 broad.mit.edu 37 2 50318468 50318468 + Nonsense_Mutation SNP G G T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr2:50318468G>T ENST00000404971.1 - 20 5170 c.3831C>A c.(3829-3831)taC>taA p.Y1277* NRXN1_ENST00000406859.3_Nonsense_Mutation_p.Y1237*|NRXN1_ENST00000342183.5_Nonsense_Mutation_p.Y202*|NRXN1_ENST00000401710.1_Nonsense_Mutation_p.Y255*|NRXN1_ENST00000402717.3_Nonsense_Mutation_p.Y1229*|NRXN1_ENST00000406316.2_Nonsense_Mutation_p.Y1237*|NRXN1_ENST00000405472.3_Nonsense_Mutation_p.Y1229*|NRXN1_ENST00000401669.2_Nonsense_Mutation_p.Y1237* NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 1237 Laminin G-like 6. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) TACCTGCAGGGTAGCGCTCGA 0.448000 122 205 1.22264e-62 1.84323e-62 1 1 0 NUDT17 200035 broad.mit.edu 37 1 145587382 145587382 + Missense_Mutation SNP C C A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr1:145587382C>A ENST00000334513.5 - 6 709 c.698G>T c.(697-699)gGa>gTa p.G233V NM_001012758.2 NP_001012776.1 P0C025 NUD17_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 17 233 Nudix hydrolase. hydrolase activity|metal ion binding endometrium(3)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(2) 9 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GGGGAGAAGTCCGGGTGTCTC 0.537000 58 73 4.96213e-28 6.64959e-28 1 1 0 EMC10 284361 broad.mit.edu 37 19 50983931 50983931 + Missense_Mutation SNP G G T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr19:50983931G>T ENST00000376918.3 + 5 542 c.496G>T c.(496-498)Ggg>Tgg p.G166W CTD-2545M3.2_ENST00000598194.1_RNA|EMC10_ENST00000598585.1_Missense_Mutation_p.G166W|EMC10_ENST00000334976.6_Missense_Mutation_p.G166W NM_175063.4 NP_778233.4 ER membrane protein complex subunit 10 GACGCACCCCGGGGGCTGCCG 0.697000 7 5 0.27861 0.27861 1 1 0 PCDHA5 56143 broad.mit.edu 37 5 140203730 140203730 + Silent SNP A A G TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr5:140203730A>G ENST00000378126.3 + 1 2370 c.2370A>G c.(2368-2370)ttA>ttG p.L790L PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron NM_031501.1 NP_113689.1 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTCTAATATTAACATCCATCT 0.398000 4 36 0 0 1 0 0 ZNF676 163223 broad.mit.edu 37 19 22363782 22363782 + Missense_Mutation SNP A A G TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr19:22363782A>G ENST00000397121.2 - 3 1054 c.737T>C c.(736-738)aTt>aCt p.I246T NM_001001411.2 NP_001001411.2 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 246 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) TCCAGTATGAATTATCTTATG 0.363000 19 66 0 0 1 0 0 DLG2 1740 broad.mit.edu 37 11 83673935 83673935 + Missense_Mutation SNP A A T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr11:83673935A>T ENST00000398309.2 - 9 1488 c.1018T>A c.(1018-1020)Tac>Aac p.Y340N DLG2_ENST00000376104.2_Missense_Mutation_p.Y445N|DLG2_ENST00000418306.2_Missense_Mutation_p.Y289N|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000280241.8_Missense_Mutation_p.Y379N|DLG2_ENST00000543673.1_Missense_Mutation_p.Y445N|DLG2_ENST00000537455.1_Missense_Mutation_p.Y94N|DLG2_ENST00000532653.1_Missense_Mutation_p.Y340N|DLG2_ENST00000330014.6_Missense_Mutation_p.Y279N|DLG2_ENST00000398301.2_Missense_Mutation_p.Y379N|DLG2_ENST00000531015.1_Missense_Mutation_p.Y307N|DLG2_ENST00000524982.1_Missense_Mutation_p.Y340N NM_001364.3 NP_001355.2 Q15700 DLG2_HUMAN discs, large homolog 2 (Drosophila) 340 cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) GACCTGGTGTAGTCGTCGTCA 0.428000 32 178 0 0 1 0 0 CHEK2P2 646096 broad.mit.edu 37 15 20495407 20495407 + RNA SNP G G A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr15:20495407G>A ENST00000555186.1 + 0 610 NR_038836.1 TTCTGTGTGAGGAAAATGAAT 0.393000 10 65 0 0 1 0 0 VWA7 80737 broad.mit.edu 37 6 31741102 31741102 + Silent SNP G G A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr6:31741102G>A ENST00000375686.3 - 6 1071 c.834C>T c.(832-834)ctC>ctT p.L278L VWA7_ENST00000375688.4_Silent_p.L278L|VWA7_ENST00000467576.1_Intron|VWA7_ENST00000447450.1_Silent_p.L278L NM_025258.2 NP_079534.2 Q9Y334 G7C_HUMAN von Willebrand factor A domain containing 7 278 extracellular region TTGCAGCCTGGAGGTGCAGCA 0.627000 13 10 0 0 1 0 0 TP53TG3D 729264 broad.mit.edu 37 16 32265036 32265036 + Splice_Site SNP G G T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr16:32265036G>T ENST00000398664.3 + 1 997 c.362_splice c.e1+1 p.S121_splice TP53TG3D_ENST00000569631.1_Intron|RP11-56L13.7_ENST00000562604.1_RNA|TP53TG3D_ENST00000354614.3_Splice_Site_p.R121_splice NM_001243722.1 NP_001230651.1 TP53 target 3D GGGTTGTCAAGGTAACGCTCC 0.602000 23 66 1.64293e-13 1.91195e-13 1 1 0 ZNF804A 91752 broad.mit.edu 37 2 185801605 185801605 + Missense_Mutation SNP G G T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr2:185801605G>T ENST00000302277.6 + 4 2076 c.1482G>T c.(1480-1482)atG>atT p.M494I NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 494 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 ACATTTGCATGGGACCACTTT 0.353000 88 72 5.94134e-38 8.41514e-38 1 1 0 ZC3H12C 85463 broad.mit.edu 37 11 110036212 110036212 + Missense_Mutation SNP A A G TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr11:110036212A>G ENST00000453089.2 + 5 3190 c.2309A>G c.(2308-2310)cAg>cGg p.Q770R ZC3H12C_ENST00000278590.3_Missense_Mutation_p.Q801R|ZC3H12C_ENST00000528673.1_Missense_Mutation_p.Q802R Q9C0D7 ZC12C_HUMAN zinc finger CCCH-type containing 12C 801 endonuclease activity|nucleic acid binding|zinc ion binding endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279) AACTCCACACAGCCGTGTTAT 0.587000 46 34 0 0 1 0 0 CACNA2D4 93589 broad.mit.edu 37 12 1965176 1965176 + Splice_Site SNP A A C TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr12:1965176A>C ENST00000382722.5 - 22 2515 c.e22+1 CACNA2D4_ENST00000588077.1_Splice_Site|CACNA2D4_ENST00000587995.1_Splice_Site|CACNA2D4_ENST00000586184.1_Splice_Site|CACNA2D4_ENST00000585708.1_Splice_Site|CACNA2D4_ENST00000585732.1_Splice_Site|CACNA2D4_ENST00000539048.2_Splice_Site NM_172364.4 NP_758952.4 Q7Z3S7 CA2D4_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 4 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 39 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451) GCCAGCACTCACACTCCAGGT 0.602000 5 64 0 0 1 0 0 PRTG 283659 broad.mit.edu 37 15 55929461 55929461 + Missense_Mutation SNP C C G TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr15:55929461C>G ENST00000389286.4 - 15 2577 c.2530G>C c.(2530-2532)Gat>Cat p.D844H NM_173814.4 NP_776175.2 Q2VWP7 PRTG_HUMAN protogenin 844 Fibronectin type-III 5. multicellular organismal development integral to membrane breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 41 all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135) TCTGGGCCATCAGGGGGTTTC 0.478000 85 140 0 0 1 0 0 ORAOV1 220064 broad.mit.edu 37 11 69482327 69482327 + Missense_Mutation SNP T T C TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr11:69482327T>C ENST00000279147.4 - 5 481 c.374A>G c.(373-375)gAc>gGc p.D125G ORAOV1_ENST00000536870.1_Missense_Mutation_p.D66G|ORAOV1_ENST00000539414.1_3'UTR|ORAOV1_ENST00000535657.1_Missense_Mutation_p.D125G NM_153451.2 NP_703152.1 Q8WV07 ORAV1_HUMAN oral cancer overexpressed 1 125 NS(1)|endometrium(1)|large_intestine(2)|lung(1) 5 all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348) Epithelial(3;5.64e-57)|all cancers(3;5.98e-51)|BRCA - Breast invasive adenocarcinoma(2;5.49e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537) AATTTTAAAGTCTGGCTGAAC 0.373000 15 127 0 0 1 0 0 PODN 127435 broad.mit.edu 37 1 53544070 53544070 + Silent SNP C C T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr1:53544070C>T ENST00000371500.3 + 10 1316 c.975C>T c.(973-975)tcC>tcT p.S325S RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000312553.5_Silent_p.S344S|PODN_ENST00000395871.2_Silent_p.S202S NM_001199080.1 NP_001186009.1 Q7Z5L7 PODN_HUMAN podocan 296 negative regulation of cell migration|negative regulation of cell proliferation cytoplasm|extracellular space|proteinaceous extracellular matrix collagen binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 tggatctgtccagcaaCAACC 0.607000 35 99 0 0 1 0 0 ERN2 10595 broad.mit.edu 37 16 23713493 23713493 + Missense_Mutation SNP C C A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr16:23713493C>A ENST00000256797.4 - 11 1495 c.1327G>T c.(1327-1329)Gcc>Tcc p.A443S ERN2_ENST00000457008.2_Missense_Mutation_p.A395S NM_033266.3 NP_150296.3 Q76MJ5 ERN2_HUMAN endoplasmic reticulum to nucleus signaling 2 395 apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|ovary(2) 6 GBM - Glioblastoma multiforme(48;0.0156) AAGGCTGGGGCCTGGGTATTC 0.617000 69 113 1.92865e-43 2.83248e-43 1 1 0 HECW2 57520 broad.mit.edu 37 2 197183882 197183882 + Missense_Mutation SNP T T C TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr2:197183882T>C ENST00000260983.2 - 9 1914 c.1732A>G c.(1732-1734)Agt>Ggt p.S578G HECW2_ENST00000409111.1_Missense_Mutation_p.S222G NM_020760.1 NP_065811.1 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 578 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 113 TCTGCGCCACTTGTGGGCTGA 0.612000 22 53 0 0 1 0 0 DLGAP4 22839 broad.mit.edu 37 20 35060447 35060447 + Silent SNP G G A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr20:35060447G>A ENST00000373913.3 + 3 807 c.327G>A c.(325-327)gaG>gaA p.E109E DLGAP4_ENST00000401952.2_Silent_p.E109E|DLGAP4_ENST00000373907.2_Silent_p.E109E|DLGAP4_ENST00000339266.5_Silent_p.E109E Q9Y2H0 DLGP4_HUMAN discs, large (Drosophila) homolog-associated protein 4 109 cell-cell signaling membrane protein binding p.E109D(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 37 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) ACCAGTTTGAGAAGCAGCTGC 0.647000 4 137 0 0 1 0 0 ZFP28 140612 broad.mit.edu 37 19 57061902 57061902 + Missense_Mutation SNP T T G TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr19:57061902T>G ENST00000301318.3 + 7 897 c.826T>G c.(826-828)Tta>Gta p.L276V ZFP28_ENST00000591844.1_Missense_Mutation_p.L276V|AC007228.11_ENST00000596587.1_RNA NM_020828.1 NP_065879.1 Q8NHY6 ZFP28_HUMAN ZFP28 zinc finger protein 276 KRAB 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 35 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0302) TAAGCCAGATTTAGTCTCTTT 0.468000 39 11 0 0 1 0 0 ATP13A5 344905 broad.mit.edu 37 3 193081900 193081900 + Missense_Mutation SNP G G T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr3:193081900G>T ENST00000342358.4 - 2 350 c.233C>A c.(232-234)aCa>aAa p.T78K NM_198505.2 NP_940907.2 Q4VNC0 AT135_HUMAN ATPase type 13A5 78 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) ACGCACTGTTGTCCTCAGCAA 0.498000 9 173 0.00448238 0.00456263 1 1 0 GPR174 84636 broad.mit.edu 37 X 78427206 78427206 + Silent SNP C C T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chrX:78427206C>T ENST00000276077.1 + 1 738 c.702C>T c.(700-702)acC>acT p.T234T NM_032553.1 NP_115942.1 Q9BXC1 GP174_HUMAN G protein-coupled receptor 174 234 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 38 TGATTCTAACCTGTGCAGGGG 0.398000 HNSCC(63;0.18) 53 12 0 0 1 0 0 GPR32 2854 broad.mit.edu 37 19 51274894 51274894 + Missense_Mutation SNP C C T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr19:51274894C>T ENST00000270590.4 + 1 1174 c.1037C>T c.(1036-1038)tCa>tTa p.S346L NM_001506.1 NP_001497.1 O75388 GPR32_HUMAN G protein-coupled receptor 32 346 integral to plasma membrane N-formyl peptide receptor activity breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028) GAGTTTCTGTCATCCTGTCCC 0.532000 45 46 0 0 1 0 0 AMER3 205147 broad.mit.edu 37 2 131520083 131520083 + Silent SNP C C T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr2:131520083C>T ENST00000423981.1 + 2 548 c.438C>T c.(436-438)atC>atT p.I146I AMER3_ENST00000321420.4_Silent_p.I146I NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2 NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2 APC membrane recruitment protein 3 CCAAGAGCATCCCGAGGAAGA 0.607000 16 61 0 0 1 0 0 NCOA1 8648 broad.mit.edu 37 2 24916208 24916208 + Missense_Mutation SNP A A G TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr2:24916208A>G ENST00000405141.1 + 11 1511 c.800A>G c.(799-801)gAt>gGt p.D267G NCOA1_ENST00000348332.3_Missense_Mutation_p.D267G|NCOA1_ENST00000407230.1_Missense_Mutation_p.D116G|NCOA1_ENST00000538539.1_Missense_Mutation_p.D267G|NCOA1_ENST00000288599.5_Missense_Mutation_p.D267G|NCOA1_ENST00000406961.1_Missense_Mutation_p.D267G|NCOA1_ENST00000395856.3_Missense_Mutation_p.D267G Q15788 NCOA1_HUMAN nuclear receptor coactivator 1 267 PAX3/NCOA1(8) breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 53 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ACCAAGCAAGATACTACAGGT 0.383000 T PAX3 alveolar rhadomyosarcoma 25 131 0 0 1 0 0 MFRP 83552 broad.mit.edu 37 11 119215633 119215633 + Silent SNP C C A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr11:119215633C>A ENST00000555262.1 - 6 882 c.723G>T c.(721-723)gtG>gtT p.V241V C1QTNF5_ENST00000445041.2_5'UTR|MFRP_ENST00000530681.1_Silent_p.V241V|MFRP_ENST00000529147.1_Intron|MFRP_ENST00000360167.4_Silent_p.V241V|MFRP_ENST00000449574.2_Silent_p.V241V NM_001278431.1 NP_001265360.1 membrane frizzled-related protein autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1) 18 Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.84e-05) CAAATCCTTCCACACTGCTGT 0.597000 25 6 7.92952e-12 8.91511e-12 1 1 0 LINC00969 440993 broad.mit.edu 37 3 195410689 195410689 + RNA SNP C C T rs6583275 by1000genomes TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr3:195410689C>T ENST00000445430.1 + 0 1886 CTTTGAGGTGCACTGGAGGAA 0.567000 5 35 0 0 1 0 0 LELP1 149018 broad.mit.edu 37 1 153177226 153177226 + Nonsense_Mutation SNP G G T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr1:153177226G>T ENST00000368747.1 + 2 153 c.43G>T c.(43-45)Gag>Tag p.E15* NM_001010857.1 NP_001010857.1 Q5T871 LELP1_HUMAN late cornified envelope-like proline-rich 1 15 NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|pancreas(1)|prostate(1) 19 all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) CCCCAAGACTGAGCCCAAGAA 0.448000 58 123 9.53615e-21 1.21647e-20 1 1 0 SYNPO2 171024 broad.mit.edu 37 4 119952278 119952278 + Missense_Mutation SNP G G T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr4:119952278G>T ENST00000307142.4 + 4 2544 c.2348G>T c.(2347-2349)gGa>gTa p.G783V SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000434046.2_Missense_Mutation_p.G783V|SYNPO2_ENST00000429713.2_Missense_Mutation_p.G783V NM_133477.2 NP_597734.2 Q9UMS6 SYNP2_HUMAN synaptopodin 2 783 Pro-rich. nucleus|Z disc 14-3-3 protein binding|actin binding|muscle alpha-actinin binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 TGGTCTCCAGGAGTGGCTCCC 0.557000 48 100 1.08114e-33 1.48891e-33 1 1 0 MAP3K19 80122 broad.mit.edu 37 2 135743890 135743890 + Missense_Mutation SNP G G T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr2:135743890G>T ENST00000375845.3 - 7 2582 c.2552C>A c.(2551-2553)cCt>cAt p.P851H MAP3K19_ENST00000358371.4_Missense_Mutation_p.P738H|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392915.1_Missense_Mutation_p.P868H|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392918.3_Intron NM_025052.3 NP_079328.3 mitogen-activated protein kinase kinase kinase 19 GTCTTCTGAAGGGATAAATGG 0.418000 42 46 6.61955e-31 9.05354e-31 1 1 0 DPP6 1804 broad.mit.edu 37 7 154585853 154585853 + Silent SNP C C A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr7:154585853C>A ENST00000404039.1 + 11 1596 c.1009C>A c.(1009-1011)Cgg>Agg p.R337R DPP6_ENST00000427557.1_Silent_p.R294R|DPP6_ENST00000377770.3_Silent_p.R401R|DPP6_ENST00000332007.3_Silent_p.R339R NM_001039350.1|NM_001936.3|NM_130797.2 NP_001034439.1|NP_001927.3|NP_570629.2 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 401 cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 71 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) CTGGCTGAACCGGGCGCAGAA 0.632000 17 18 1.55469e-16 1.9039e-16 1 1 0 RBBP6 5930 broad.mit.edu 37 16 24580271 24580271 + Missense_Mutation SNP C C T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr16:24580271C>T ENST00000319715.4 + 17 2692 c.2260C>T c.(2260-2262)Cat>Tat p.H754Y RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Missense_Mutation_p.H720Y NM_006910.4 NP_008841.2 Q7Z6E9 RBBP6_HUMAN retinoblastoma binding protein 6 754 protein ubiquitination involved in ubiquitin-dependent protein catabolic process chromosome|nucleolus|ubiquitin ligase complex nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1) 46 GBM - Glioblastoma multiforme(48;0.0518) TCATGGATATCATCGATCTAG 0.493000 21 87 0 0 1 0 0 AKR7L 246181 broad.mit.edu 37 1 19595799 19595799 + RNA SNP A A G TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr1:19595799A>G ENST00000420396.2 - 0 507 AKR7L_ENST00000429712.1_RNA aldo-keto reductase family 7-like breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1) 6 CTGAGTCCCAAAGAAGCGGCC 0.597000 30 34 0 0 1 0 0 PPP4R4 57718 broad.mit.edu 37 14 94732176 94732176 + Missense_Mutation SNP A A T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr14:94732176A>T ENST00000304338.3 + 22 2484 c.2330A>T c.(2329-2331)aAt>aTt p.N777I NM_058237.1 NP_478144.1 Q6NUP7 PP4R4_HUMAN protein phosphatase 4, regulatory subunit 4 777 cytoplasm|protein serine/threonine phosphatase complex protein binding NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2) 40 CAGTCTTTTAATAATCAAGCT 0.333000 65 21 0 0 1 0 0 MUS81 80198 broad.mit.edu 37 11 65629734 65629734 + Missense_Mutation SNP C C A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr11:65629734C>A ENST00000308110.4 + 5 852 c.503C>A c.(502-504)gCt>gAt p.A168D MUS81_ENST00000533035.1_Missense_Mutation_p.A93D NM_025128.4 NP_079404.3 Q96NY9 MUS81_HUMAN MUS81 structure-specific endonuclease subunit 168 Interaction with BLM. DNA recombination|DNA repair nucleolus 3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1) 13 READ - Rectum adenocarcinoma(159;0.166) CAGAGGTGTGCTCAGAAGTCC 0.572000 Homologous recombination 12 75 4.36969e-10 4.85792e-10 1 1 0 MST1L 11223 broad.mit.edu 37 1 17085189 17085189 + RNA SNP A A G TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr1:17085189A>G ENST00000455405.2 - 0 87 p.S428P(1) TCCAGGATTGATGGCGGCTGG 0.572000 4 36 0 0 1 0 0 RAPGEF5 9771 broad.mit.edu 37 7 22190105 22190105 + Missense_Mutation SNP G G C TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr7:22190105G>C ENST00000344041.6 - 18 1657 c.1345C>G c.(1345-1347)Cca>Gca p.P449A RAPGEF5_ENST00000401957.2_Missense_Mutation_p.P299A NM_012294.3 NP_036426.3 Q92565 RPGF5_HUMAN Rap guanine nucleotide exchange factor (GEF) 5 299 Ras-GEF. nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction nucleus GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1) 6 AAGTCATTTGGCTGAAGTTCA 0.388000 48 57 0 0 1 0 0 HIVEP3 59269 broad.mit.edu 37 1 41978682 41978682 + Missense_Mutation SNP C C A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr1:41978682C>A ENST00000372584.1 - 7 7224 c.6210G>T c.(6208-6210)agG>agT p.R2070S HIVEP3_ENST00000429157.2_Missense_Mutation_p.R2070S|HIVEP3_ENST00000372583.1_Missense_Mutation_p.R2070S|HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000247584.5_Missense_Mutation_p.R2070S NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 2070 6 X 4 AA tandem repeats of S-P-X-[RK]. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) GAGACCATCTCCTGGTGGGCG 0.687000 29 12 1.57351e-24 2.08753e-24 1 1 0 MAPKBP1 23005 broad.mit.edu 37 15 42115799 42115799 + Missense_Mutation SNP G G C TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr15:42115799G>C ENST00000457542.2 + 29 4039 c.3753G>C c.(3751-3753)aaG>aaC p.K1251N MAPKBP1_ENST00000260357.7_Missense_Mutation_p.K1090N|MAPKBP1_ENST00000514566.1_Intron|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.K1257N|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.K1134N NM_014994.2 NP_055809.2 O60336 MABP1_HUMAN mitogen-activated protein kinase binding protein 1 1257 breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225) CCATGGCCAAGATATCCCGCA 0.612000 22 52 0 0 1 0 0 XPO7 23039 broad.mit.edu 37 8 21846522 21846522 + Missense_Mutation SNP A A T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr8:21846522A>T ENST00000434536.1 + 16 1925 c.1823A>T c.(1822-1824)aAc>aTc p.N608I XPO7_ENST00000252512.9_Missense_Mutation_p.N599I|XPO7_ENST00000433566.4_Missense_Mutation_p.N600I Q9UIA9 XPO7_HUMAN exportin 7 599 mRNA transport|protein export from nucleus|transmembrane transport cytoplasm|nuclear pore nuclear export signal receptor activity|protein transporter activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724) AGCATCACCAACTTGAAGTAC 0.433000 29 5 0 0 1 0 0 PRSS16 10279 broad.mit.edu 37 6 27223044 27223044 + Nonsense_Mutation SNP C C T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr6:27223044C>T ENST00000230582.3 + 12 1510 c.1495C>T c.(1495-1497)Cag>Tag p.Q499* PRSS16_ENST00000421826.2_Nonsense_Mutation_p.Q242*|PRSS16_ENST00000377456.2_3'UTR NM_005865.3 NP_005856.1 Q9NQE7 TSSP_HUMAN protease, serine, 16 (thymus) 499 protein catabolic process|proteolysis cytoplasmic membrane-bounded vesicle serine-type peptidase activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 26 CCAGCAGCTACAGACCTGGCT 0.488000 11 13 0 0 1 0 0 LOC440040 440040 broad.mit.edu 37 11 49831437 49831437 + RNA SNP A A G TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr11:49831437A>G ENST00000527477.1 + 0 1662 GGGTGCTCAGACTTTCACCTC 0.458000 23 39 0 0 1 0 0 TPD52L1 7164 broad.mit.edu 37 6 125569527 125569527 + Missense_Mutation SNP G G A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr6:125569527G>A ENST00000534000.1 + 4 680 c.384G>A c.(382-384)atG>atA p.M128I TPD52L1_ENST00000527711.1_Missense_Mutation_p.M128I|TPD52L1_ENST00000528193.1_Missense_Mutation_p.M128I|TPD52L1_ENST00000534199.1_Missense_Mutation_p.M99I|TPD52L1_ENST00000368402.5_Missense_Mutation_p.M128I|TPD52L1_ENST00000304877.13_Missense_Mutation_p.M128I|TPD52L1_ENST00000524679.1_Missense_Mutation_p.M99I|TPD52L1_ENST00000532429.1_Missense_Mutation_p.M99I|TPD52L1_ENST00000530868.1_3'UTR|TPD52L1_ENST00000368388.2_Missense_Mutation_p.M128I|TPD52L1_ENST00000392482.2_Missense_Mutation_p.M99I NM_003287.2 NP_003278.1 Q16890 TPD53_HUMAN tumor protein D52-like 1 128 DNA fragmentation involved in apoptotic nuclear change|G2/M transition of mitotic cell cycle|induction of apoptosis|positive regulation of JNK cascade|positive regulation of MAP kinase activity perinuclear region of cytoplasm caspase activator activity|protein heterodimerization activity|protein homodimerization activity endometrium(2)|large_intestine(2)|prostate(1) 5 LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828) GBM - Glioblastoma multiforme(226;0.0265) TCGGAGACATGAGGTACTGTG 0.483000 17 9 0 0 1 0 0 MYCBP2 23077 broad.mit.edu 37 13 77779485 77779485 + Missense_Mutation SNP G G A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr13:77779485G>A ENST00000407578.2 - 26 4015 c.3749C>T c.(3748-3750)tCa>tTa p.S1250L MYCBP2_ENST00000357337.6_Missense_Mutation_p.S1212L|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000544440.2_Missense_Mutation_p.S1212L NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 1212 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) AGCTTCTACTGAATGGGCAGA 0.358000 26 18 0 0 1 0 0 KCNU1 157855 broad.mit.edu 37 8 36673144 36673144 + Missense_Mutation SNP G G T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr8:36673144G>T ENST00000399881.3 + 9 971 c.934G>T c.(934-936)Gtg>Ttg p.V312L NM_001031836.2 NP_001027006.2 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 312 voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1) 57 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) ACCTGAAATGGTGGAACTGTT 0.299000 57 6 9.68594e-22 1.25162e-21 1 1 0 TRIM48 79097 broad.mit.edu 37 11 55032731 55032731 + Missense_Mutation SNP T T C TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr11:55032731T>C ENST00000417545.2 + 2 486 c.400T>C c.(400-402)Tct>Cct p.S134P NM_024114.3 NP_077019.2 Q8IWZ4 TRI48_HUMAN tripartite motif containing 48 118 intracellular zinc ion binding endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 GTGCTCCAGCTCTCAGGAGCA 0.507000 16 100 0 0 1 0 0 CTSD 1509 broad.mit.edu 37 11 1775105 1775105 + Missense_Mutation SNP G G A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr11:1775105G>A ENST00000427721.1 - 5 610 c.611C>T c.(610-612)cCa>cTa p.P204L CTSD_ENST00000236671.2_Silent_p.S333S CGGGCAGGGTGGACACCTTCT 0.642000 41 22 0 0 1 0 0 OR5A1 219982 broad.mit.edu 37 11 59211538 59211538 + Missense_Mutation SNP G G C TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr11:59211538G>C ENST00000302030.2 + 1 922 c.897G>C c.(895-897)gaG>gaC p.E299D NM_001004728.1 NP_001004728.1 Q8NGJ0 OR5A1_HUMAN olfactory receptor, family 5, subfamily A, member 1 299 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.E299D(1) central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 28 GGAACAAAGAGATCAAGGATG 0.433000 80 138 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179641932 179641932 + Missense_Mutation SNP G G T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr2:179641932G>T ENST00000589042.1 - 27 4982 c.4758C>A c.(4756-4758)gaC>gaA p.D1586E TTN_ENST00000591111.1_Missense_Mutation_p.D1586E|TTN_ENST00000342992.6_Missense_Mutation_p.D1586E|TTN_ENST00000342175.6_Missense_Mutation_p.D1540E|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D1540E|TTN_ENST00000360870.5_Missense_Mutation_p.D1586E|TTN_ENST00000359218.5_Missense_Mutation_p.D1540E NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 1321 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) ACCATACAATGTCAGGGTTGG 0.358000 42 124 2.27781e-18 2.83303e-18 1 1 0 LOC150776 150776 broad.mit.edu 37 2 132276728 132276728 + RNA SNP G G T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr2:132276728G>T ENST00000438378.2 + 0 2048 NR_026922.1 CTCATGGCTGGGCTTTAGCTC 0.597000 21 85 4.87955e-14 5.7288e-14 1 1 0 SFN 2810 broad.mit.edu 37 1 27190105 27190105 + Silent SNP G G A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr1:27190105G>A ENST00000339276.4 + 1 473 c.402G>A c.(400-402)gtG>gtA p.V134V NM_006142.3 NP_006133.1 P31947 1433S_HUMAN stratifin 134 DNA damage response, signal transduction resulting in induction of apoptosis|negative regulation of caspase activity|release of cytochrome c from mitochondria cytoplasm|extracellular space|nucleus protein domain specific binding|protein kinase C inhibitor activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2) 9 all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215) TGGCCGAGGTGGCCACCGGTG 0.622000 18 56 0 0 1 0 0 TMEM74B 55321 broad.mit.edu 37 20 1162210 1162210 + Missense_Mutation SNP T T A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr20:1162210T>A ENST00000381894.3 - 2 724 c.53A>T c.(52-54)gAg>gTg p.E18V TMEM74B_ENST00000481747.1_5'UTR NM_018354.1 NP_060824.1 Q9NUR3 CT046_HUMAN transmembrane protein 74B 18 integral to membrane protein binding GGGCCCCAGCTCATCCCTTGG 0.562000 16 32 0 0 1 0 0 WT1 7490 broad.mit.edu 37 11 32410625 32410625 + Silent SNP G G T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr11:32410625G>T ENST00000332351.3 - 10 1817 c.1533C>A c.(1531-1533)acC>acA p.T511T WT1_ENST00000530998.1_Silent_p.T282T|WT1_ENST00000448076.3_Silent_p.T508T|WT1_ENST00000379079.2_Silent_p.T296T NM_024424.3|NM_024426.4 NP_077742.2|NP_077744.3 P19544 WT1_HUMAN Wilms tumor 1 443 adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development cytoplasm|nuclear speck|nucleoplasm C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding EWSR1/WT1(234) NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1) 533 Breast(20;0.247) OV - Ovarian serous cystadenocarcinoma(30;0.128) GCTGGAGTTTGGTCATGTTTC 0.532000 """D, Mis, N, F, S""" EWSR1 """Wilms, desmoplastic small round cell tumor""" Wilms Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome 36 66 1.15505e-17 1.42325e-17 1 1 0 FLG 2312 broad.mit.edu 37 1 152278724 152278724 + Missense_Mutation SNP C C A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr1:152278724C>A ENST00000368799.1 - 3 8673 c.8638G>T c.(8638-8640)Ggg>Tgg p.G2880W FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2880 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTCCTGGACCCCTCTGATTGT 0.582000 Ichthyosis 63 425 1.16775e-40 1.68393e-40 1 1 0 SYTL2 54843 broad.mit.edu 37 11 85437291 85437291 + Missense_Mutation SNP T T A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr11:85437291T>A ENST00000359152.5 - 1 1780 c.1781A>T c.(1780-1782)gAg>gTg p.E594V SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000525423.1_Missense_Mutation_p.E70V|SYTL2_ENST00000354566.3_Missense_Mutation_p.E70V|SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000389960.4_Intron NM_206928.2 NP_996811.1 Q9HCH5 SYTL2_HUMAN synaptotagmin-like 2 106 Ser-rich. intracellular protein transport|vesicle docking involved in exocytosis exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237) TAGAAGCACCTCTGCTTCATG 0.378000 120 56 0 0 1 0 0 CCAR1 55749 broad.mit.edu 37 10 70513691 70513691 + Missense_Mutation SNP T T A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr10:70513691T>A ENST00000265872.6 + 11 1320 c.1201T>A c.(1201-1203)Tgg>Agg p.W401R CCAR1_ENST00000535016.1_Missense_Mutation_p.W386R|CCAR1_ENST00000543719.1_Missense_Mutation_p.W386R NM_018237.2 NP_060707.2 Q8IX12 CCAR1_HUMAN cell division cycle and apoptosis regulator 1 401 apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm|perinuclear region of cytoplasm calcium ion binding|nucleic acid binding|protein binding NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3) 56 TCAATTTACATGGGTGGATGC 0.373000 61 26 0 0 1 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178585817 178585817 + Missense_Mutation SNP A A T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr5:178585817A>T ENST00000251582.7 - 6 1140 c.1039T>A c.(1039-1041)Tac>Aac p.Y347N ADAMTS2_ENST00000274609.5_Missense_Mutation_p.Y347N NM_014244.4 NP_055059.2 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 2 347 Peptidase M12B. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7) 72 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) TGCTGGAGGTAGGCCCAGCGG 0.592000 40 20 0 0 1 0 0 PHF14 9678 broad.mit.edu 37 7 11091334 11091334 + Missense_Mutation SNP A A G TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr7:11091334A>G ENST00000403050.3 + 14 2860 c.2408A>G c.(2407-2409)cAg>cGg p.Q803R PHF14_ENST00000445996.2_Missense_Mutation_p.Q518R NM_014660.3 NP_055475.2 O94880 PHF14_HUMAN PHD finger protein 14 803 zinc ion binding NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 35 UCEC - Uterine corpus endometrioid carcinoma (126;0.205) TCAAGGAGGCAGATTAAGGAA 0.453000 18 31 0 0 1 0 0 SLC17A3 10786 broad.mit.edu 37 6 25861887 25861887 + Missense_Mutation SNP T T A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr6:25861887T>A ENST00000397060.4 - 5 699 c.590A>T c.(589-591)cAa>cTa p.Q197L SLC17A3_ENST00000361703.6_Missense_Mutation_p.Q119L|SLC17A3_ENST00000360657.3_Missense_Mutation_p.Q119L NM_001098486.1 NP_001091956.1 O00476 NPT4_HUMAN solute carrier family 17 (organic anion transporter), member 3 119 glucose-6-phosphate transport|urate metabolic process apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1) 20 GCTTCGTTCTTGTGGAGGGCC 0.423000 16 74 0 0 1 0 0 B4GALNT3 283358 broad.mit.edu 37 12 663068 663068 + Missense_Mutation SNP C C G TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr12:663068C>G ENST00000266383.5 + 14 1992 c.1979C>G c.(1978-1980)tCt>tGt p.S660C NM_173593.3 NP_775864.3 Q6L9W6 B4GN3_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 3 660 Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215) OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262) TGTAACACATCTGGCAACCTG 0.557000 100 50 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593000 96593000 + Missense_Mutation SNP A A G rs111976783 TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr2:96593000A>G ENST00000456556.1 - 28 1985 c.1901T>C c.(1900-1902)aTa>aCa p.I634T ankyrin repeat domain 36C p.I634T(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 TTCTGTGGCTATATTTGAAAC 0.338000 3 68 0 0 1 0 0 LRRC71 149499 broad.mit.edu 37 1 156897534 156897534 + Silent SNP C C T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr1:156897534C>T ENST00000337428.7 + 8 986 c.832C>T c.(832-834)Ctg>Ttg p.L278L LRRC71_ENST00000490146.1_3'UTR NM_144702.2 NP_653303.2 Q8N4P6 LRC71_HUMAN leucine rich repeat containing 71 278 endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|stomach(1) 12 GGGCCTCCGGCTGAACCGTTC 0.701000 OREG0013892 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 26 49 0 0 1 0 0 TNR 7143 broad.mit.edu 37 1 175323591 175323591 + Silent SNP C C A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr1:175323591C>A ENST00000367674.1 - 18 4026 c.3318G>T c.(3316-3318)acG>acT p.T1106T TNR_ENST00000263525.2_Silent_p.T1106T NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 1106 Fibronectin type-III 9. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) GCAGGAGCACCGTGTAGTCTG 0.557000 59 16 8.81991e-31 1.20217e-30 1 1 0 DRC1 92749 broad.mit.edu 37 2 26667616 26667616 + Nonsense_Mutation SNP G G A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr2:26667616G>A ENST00000288710.2 + 10 1270 c.1196G>A c.(1195-1197)tGg>tAg p.W399* DRC1_ENST00000483675.1_3'UTR NM_145038.2 NP_659475.2 dynein regulatory complex subunit 1 homolog (Chlamydomonas) GAGAAGTTTTGGGAGATTTGG 0.527000 12 31 0 0 1 0 0 GPR139 124274 broad.mit.edu 37 16 20043464 20043464 + Missense_Mutation SNP G G C TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr16:20043464G>C ENST00000570682.1 - 2 955 c.655C>G c.(655-657)Cgt>Ggt p.R219G NM_001002911.2 NP_001002911.1 Q6DWJ6 GP139_HUMAN G protein-coupled receptor 139 219 integral to membrane|plasma membrane autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 30 GAGTAGCCACGGAGACGAAAA 0.512000 55 87 0 0 1 0 0 LRP5 4041 broad.mit.edu 37 11 68213965 68213965 + Missense_Mutation SNP A A T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr11:68213965A>T ENST00000294304.7 + 22 4656 c.4550A>T c.(4549-4551)tAc>tTc p.Y1517F NM_002335.2 NP_002326.2 O75197 LRP5_HUMAN low density lipoprotein receptor-related protein 5 1517 Pro-rich. adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 GACATGTTCTACTCTTCAAAC 0.632000 154 62 0 0 1 0 0 ZBTB20 26137 broad.mit.edu 37 3 114070281 114070281 + Missense_Mutation SNP G G C TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr3:114070281G>C ENST00000462705.1 - 11 1246 c.425C>G c.(424-426)aCt>aGt p.T142S ZBTB20_ENST00000474710.1_Missense_Mutation_p.T215S|ZBTB20_ENST00000464560.1_Missense_Mutation_p.T142S|ZBTB20_ENST00000393785.2_Missense_Mutation_p.T142S|ZBTB20_ENST00000357258.3_Missense_Mutation_p.T142S|ZBTB20_ENST00000471418.1_Missense_Mutation_p.T142S|ZBTB20_ENST00000481632.1_Missense_Mutation_p.T142S NM_001164343.1 NP_001157815.1 Q9HC78 ZBT20_HUMAN zinc finger and BTB domain containing 20 215 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191) TGACTCGGGAGTGCCCCGCGG 0.637000 106 24 0 0 1 0 0 KCNC2 3747 broad.mit.edu 37 12 75437007 75437007 + Nonsense_Mutation SNP G G A rs143215099 TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr12:75437007G>A ENST00000549446.1 - 5 2475 c.1795C>T c.(1795-1797)Cga>Tga p.R599* KCNC2_ENST00000341669.3_Intron|KCNC2_ENST00000548513.1_Intron|KCNC2_ENST00000550433.1_Intron|KCNC2_ENST00000350228.2_Intron|KCNC2_ENST00000540018.1_Nonsense_Mutation_p.R544*|RP11-81K13.1_ENST00000547040.1_RNA|RP11-81K13.1_ENST00000550049.1_RNA|KCNC2_ENST00000298972.1_Intron NM_001260497.1|NM_139137.3 NP_001247426.1|NP_631875.1 Q96PR1 KCNC2_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 2 599 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex voltage-gated potassium channel activity breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 54 TTTAAGCTTCGGGATTTTTCA 0.438000 13 25 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176671858 176671858 + Missense_Mutation SNP G G T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr1:176671858G>T ENST00000367662.3 + 9 4516 c.3352G>T c.(3352-3354)Ggg>Tgg p.G1118W NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1118 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 TTGTGGAGATGGGAAGGTGTC 0.502000 11 54 4.68919e-08 5.04405e-08 1 1 0 HIST1H2BD 3017 broad.mit.edu 37 6 26158661 26158661 + Silent SNP G G C rs143992438 TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr6:26158661G>C ENST00000289316.2 + 1 288 c.264G>C c.(262-264)tcG>tcC p.S88S HIST1H2BD_ENST00000377777.4_Silent_p.S88S NM_138720.2 NP_619790.1 P58876 H2B1D_HUMAN histone cluster 1, H2bd 88 nucleosome assembly nucleosome|nucleus DNA binding breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 24 ACAAGCGCTCGACCATCACCT 0.622000 51 92 0 0 1 0 0 AKAP9 10142 broad.mit.edu 37 7 91699439 91699439 + Silent SNP G G A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr7:91699439G>A ENST00000359028.2 + 28 6687 c.6462G>A c.(6460-6462)agG>agA p.R2154R AKAP9_ENST00000356239.3_Silent_p.R2142R|AKAP9_ENST00000358100.2_Silent_p.R2154R Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 2154 Glu-rich. G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) TACAAGAAAGGAATGAAGAAA 0.393000 T BRAF papillary thyroid 30 62 0 0 1 0 0 CSNK2A1 1457 broad.mit.edu 37 20 476447 476447 + Splice_Site SNP C C A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr20:476447C>A ENST00000217244.3 - 8 802 c.e8-1 CSNK2A1_ENST00000400227.3_Splice_Site|CSNK2A1_ENST00000460062.1_Splice_Site|CSNK2A1_ENST00000400217.1_Splice_Site|CSNK2A1_ENST00000349736.5_Splice_Site NM_177559.2 NP_808227.1 P68400 CSK21_HUMAN casein kinase 2, alpha 1 polypeptide axon guidance|Wnt receptor signaling pathway cytosol|NuRD complex|plasma membrane|Sin3 complex ATP binding|protein N-terminus binding|protein serine/threonine kinase activity autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1) 17 Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.0969) AATCCAGGGCCTGTGGGATGA 0.433000 41 32 6.4771e-29 8.76832e-29 1 1 0 UBA1 7317 broad.mit.edu 37 X 47061801 47061801 + Silent SNP G G T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chrX:47061801G>T ENST00000335972.6 + 10 1137 c.954G>T c.(952-954)acG>acT p.T318T UBA1_ENST00000377351.4_Silent_p.T318T NM_003334.3 NP_003325.2 P22314 UBA1_HUMAN ubiquitin-like modifier activating enzyme 1 318 2 approximate repeats. cell death|protein modification process ATP binding|ligase activity|protein binding|small protein activating enzyme activity breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 TTGTGGTGACGGACTTCGCCA 0.592000 25 7 9.78306e-22 1.26008e-21 1 1 0 REG1A 5967 broad.mit.edu 37 2 79349999 79349999 + Silent SNP G G A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr2:79349999G>A ENST00000233735.1 + 5 457 c.354G>A c.(352-354)ctG>ctA p.L118L NM_002909.4 NP_002900.2 P05451 REG1A_HUMAN regenerating islet-derived 1 alpha 118 C-type lectin. positive regulation of cell proliferation extracellular region growth factor activity|sugar binding NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1) 39 GTGGGTCCCTGGTCTCCTACA 0.562000 54 125 0 0 1 0 0 GJC2 57165 broad.mit.edu 37 1 228345508 228345508 + Missense_Mutation SNP C C A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr1:228345508C>A ENST00000366714.2 + 2 224 c.49C>A c.(49-51)Cac>Aac p.H17N NM_020435.3 NP_065168.2 Q5T442 CXG2_HUMAN gap junction protein, gamma 2, 47kDa 17 cell death connexon complex|integral to membrane endometrium(1)|kidney(1)|large_intestine(1)|lung(4) 7 Prostate(94;0.0405) GGAGGAGATCCACAACCACTC 0.672000 9 1 4.68919e-08 5.04405e-08 1 1 0 ABCA9 10350 broad.mit.edu 37 17 67045515 67045515 + Silent SNP A A G TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr17:67045515A>G ENST00000340001.4 - 3 424 c.213T>C c.(211-213)ttT>ttC p.F71F ABCA9_ENST00000453985.2_Silent_p.F71F|ABCA9_ENST00000495634.1_Silent_p.F71F|ABCA9_ENST00000370732.2_Silent_p.F71F NM_080283.3 NP_525022.2 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A (ABC1), member 9 71 transport integral to membrane ATP binding|ATPase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 91 Breast(10;1.47e-12) TAGTATCATTAAAACTATCTA 0.368000 43 63 0 0 1 0 0 PHKG2 5261 broad.mit.edu 37 16 30767819 30767819 + Missense_Mutation SNP G G A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr16:30767819G>A ENST00000563588.1 + 8 1018 c.779G>A c.(778-780)cGt>cAt p.R260H PHKG2_ENST00000424889.3_Missense_Mutation_p.R260H|PHKG2_ENST00000328273.7_Missense_Mutation_p.R264H NM_000294.2 NP_000285.1 P15735 PHKG2_HUMAN phosphorylase kinase, gamma 2 (testis) 260 Protein kinase. glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol ATP binding|calmodulin binding|phosphorylase kinase activity ovary(1)|skin(1) 2 Colorectal(24;0.198) TGGGATGACCGTTCCAGCACT 0.617000 3 52 0 0 1 0 0 ZNF827 152485 broad.mit.edu 37 4 146813419 146813419 + Silent SNP C C T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr4:146813419C>T ENST00000508784.1 - 3 1469 c.1242G>A c.(1240-1242)aaG>aaA p.K414K ZNF827_ENST00000513320.1_Silent_p.K64K|ZNF827_ENST00000379448.4_Silent_p.K414K Q17R98 ZN827_HUMAN zinc finger protein 827 414 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 all_hematologic(180;0.151) TGAGATTGTCCTTGCGAGCAC 0.517000 25 101 0 0 1 0 0 GRIA2 2891 broad.mit.edu 37 4 158142839 158142839 + Missense_Mutation SNP G G T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr4:158142839G>T ENST00000296526.7 + 2 434 c.109G>T c.(109-111)Gcc>Tcc p.A37S GRIA2_ENST00000264426.9_Missense_Mutation_p.A37S|GRIA2_ENST00000507898.1_5'UTR|GRIA2_ENST00000393815.2_5'UTR|GRIA2_ENST00000449365.1_5'UTR|GRIA2_ENST00000504801.1_Intron NM_000826.3 NP_000817.2 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 37 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) TCCTAGGGGCGCCGATCAAGA 0.542000 57 18 3.07184e-27 4.10266e-27 1 1 0 CCDC40 55036 broad.mit.edu 37 17 78069164 78069164 + Missense_Mutation SNP C C A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr17:78069164C>A ENST00000397545.4 + 18 2962 c.2935C>A c.(2935-2937)Cgc>Agc p.R979S NM_017950.3 NP_060420.2 Q4G0X9 CCD40_HUMAN coiled-coil domain containing 40 979 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium|cytoplasm NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 38 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149) CGAGGGGCAGCGCAAGATGGA 0.642000 21 44 1.64293e-13 1.91195e-13 1 1 0 LCN1 3933 broad.mit.edu 37 9 138413373 138413373 + Silent SNP T T C TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr9:138413373T>C ENST00000263598.2 + 1 90 c.30T>C c.(28-30)ctT>ctC p.L10L LCN1_ENST00000371781.3_Silent_p.L10L NM_001252617.1|NM_001252618.1|NM_001252619.1|NM_002297.3 NP_001239546.1|NP_001239547.1|NP_001239548.1|NP_002288.1 P31025 LCN1_HUMAN lipocalin 1 10 proteolysis|response to stimulus|sensory perception of taste extracellular region cysteine-type endopeptidase inhibitor activity|transporter activity p.L10L(2) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5) 13 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155) CCGTCAGCCTTGGCCTCATTG 0.667000 4 35 0 0 1 0 0 TAS2R41 259287 broad.mit.edu 37 7 143175118 143175118 + Silent SNP G G A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr7:143175118G>A ENST00000408916.1 + 1 153 c.153G>A c.(151-153)ttG>ttA p.L51L EPHA1-AS1_ENST00000429289.1_RNA NM_176883.2 NP_795364.2 P59536 T2R41_HUMAN taste receptor, type 2, member 41 51 sensory perception of taste integral to membrane G-protein coupled receptor activity endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1) 18 Melanoma(164;0.15) TCATTAGCTTGGGTGCCTCCC 0.572000 83 89 0 0 1 0 0 KRT1 3848 broad.mit.edu 37 12 53069036 53069036 + Missense_Mutation SNP A A T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr12:53069036A>T ENST00000252244.3 - 9 1934 c.1876T>A c.(1876-1878)Tct>Act p.S626T NM_006121.3 NP_006112.3 P04264 K2C1_HUMAN keratin 1 626 Gly/Ser-rich.|Tail. complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress plasma membrane protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3) 39 CTGCCACCAGAGGACTTGACA 0.612000 28 71 0 0 1 0 0 LAMA5 3911 broad.mit.edu 37 20 60904863 60904863 + Silent SNP C C T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr20:60904863C>T ENST00000252999.3 - 32 4155 c.4089G>A c.(4087-4089)gtG>gtA p.V1363V NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 1363 Domain IV 1 (domain IV B). 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) TGGGCACACGCACGGTCACAG 0.622000 13 38 0 0 1 0 0 KL 9365 broad.mit.edu 37 13 33635130 33635130 + Missense_Mutation SNP G G T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr13:33635130G>T ENST00000380099.3 + 4 1922 c.1914G>T c.(1912-1914)tgG>tgT p.W638C KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_3'UTR NM_004795.3 NP_004786.2 Q9UEF7 KLOT_HUMAN klotho 638 Glycosyl hydrolase-1 2. aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5) 41 all_epithelial(80;0.133) Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05) TGGCCCTGTGGCAGCCTATGG 0.637000 49 16 1.86277e-20 2.36863e-20 1 1 0 POC1B-GALNT4 100528030 broad.mit.edu 37 12 89917074 89917074 + Missense_Mutation SNP C C A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr12:89917074C>A ENST00000548729.1 - 3 1546 c.1244G>T c.(1243-1245)cGg>cTg p.R415L POC1B-GALNT4_ENST00000413530.1_Missense_Mutation_p.R246L|POC1B-GALNT4_ENST00000547474.1_3'UTR|POC1B_ENST00000393179.4_Intron|GALNT4_ENST00000529983.2_Missense_Mutation_p.R418L|POC1B_ENST00000541909.1_Intron|POC1B_ENST00000549504.1_Intron|POC1B_ENST00000313546.3_Intron|POC1B_ENST00000549035.1_Intron NM_001199781.1|NM_001199782.1 NP_001186710.1|NP_001186711.1 GCATCTCAACCGCTCTCGTAG 0.403000 21 35 2.52088e-20 3.18511e-20 1 1 0 TAS2R16 50833 broad.mit.edu 37 7 122635314 122635314 + Silent SNP C C T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr7:122635314C>T ENST00000249284.2 - 1 440 c.375G>A c.(373-375)ttG>ttA p.L125L NM_016945.2 NP_058641.1 Q9NYV7 T2R16_HUMAN taste receptor, type 2, member 16 125 detection of chemical stimulus involved in sensory perception of bitter taste endoplasmic reticulum|external side of plasma membrane|trans-Golgi network bitter taste receptor activity|protein binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 TCCAGGGAAACAACCTCAAAA 0.418000 28 14 0 0 1 0 0 CCAR1 55749 broad.mit.edu 37 10 70513692 70513692 + Missense_Mutation SNP G G T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr10:70513692G>T ENST00000265872.6 + 11 1321 c.1202G>T c.(1201-1203)tGg>tTg p.W401L CCAR1_ENST00000535016.1_Missense_Mutation_p.W386L|CCAR1_ENST00000543719.1_Missense_Mutation_p.W386L NM_018237.2 NP_060707.2 Q8IX12 CCAR1_HUMAN cell division cycle and apoptosis regulator 1 401 apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm|perinuclear region of cytoplasm calcium ion binding|nucleic acid binding|protein binding p.W401L(1) NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3) 56 CAATTTACATGGGTGGATGCT 0.373000 62 26 1.17004e-41 1.70578e-41 1 1 0 KLHDC8A 55220 broad.mit.edu 37 1 205308387 205308387 + Missense_Mutation SNP C C G TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr1:205308387C>G ENST00000367156.3 - 7 1508 c.692G>C c.(691-693)cGg>cCg p.R231P KLHDC8A_ENST00000460687.1_Missense_Mutation_p.R97P|KLHDC8A_ENST00000367155.3_Missense_Mutation_p.R231P|KLHDC8A_ENST00000537168.1_Missense_Mutation_p.R118P|KLHDC8A_ENST00000539253.1_Missense_Mutation_p.R231P NM_001271863.1 NP_001258792.1 Q8IYD2 KLD8A_HUMAN kelch domain containing 8A 231 breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 14 Breast(84;0.23) BRCA - Breast invasive adenocarcinoma(75;0.117) GCGACCTTGCCGCAGGCCTCC 0.592000 36 12 0 0 1 0 0 FOLH1 2346 broad.mit.edu 37 11 49227631 49227631 + Missense_Mutation SNP T T C TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr11:49227631T>C ENST00000340334.7 - 3 535 c.167A>G c.(166-168)aAg>aGg p.K56R FOLH1_ENST00000343844.4_5'UTR|FOLH1_ENST00000356696.3_Missense_Mutation_p.K71R|FOLH1_ENST00000533034.1_Missense_Mutation_p.K56R|FOLH1_ENST00000256999.2_Missense_Mutation_p.K71R NM_001193471.1|NM_001193472.1 NP_001180400.1|NP_001180401.1 Q04609 FOLH1_HUMAN folate hydrolase (prostate-specific membrane antigen) 1 71 proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 60 Capromab(DB00089)|L-Glutamic Acid(DB00142) TAAGAACTTCTTGATGTTCTC 0.303000 28 57 0 0 1 0 0 FSD1 79187 broad.mit.edu 37 19 4318437 4318437 + Missense_Mutation SNP G G T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr19:4318437G>T ENST00000221856.6 + 9 1041 c.894G>T c.(892-894)caG>caT p.Q298H FSD1_ENST00000597590.1_Missense_Mutation_p.Q298H|FSD1_ENST00000598010.1_3'UTR NM_024333.2 NP_077309.1 Q9BTV5 FSD1_HUMAN fibronectin type III and SPRY domain containing 1 298 B30.2/SPRY. cell division|mitosis cleavage furrow|microtubule|microtubule organizing center|nucleus breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 21 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18) GGAAGGTGCAGGATATCAAGG 0.632000 23 12 5.52252e-06 5.79937e-06 1 1 0 SMPD4 55627 broad.mit.edu 37 2 130931133 130931133 + Missense_Mutation SNP C C A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr2:130931133C>A ENST00000409031.1 - 4 1488 c.340G>T c.(340-342)Gtg>Ttg p.V114L SMPD4_ENST00000426662.2_Intron|SMPD4_ENST00000351288.6_Missense_Mutation_p.V114L|SMPD4_ENST00000431183.2_Intron|SMPD4_ENST00000473720.1_Intron|SMPD4_ENST00000443958.2_Intron|SMPD4_ENST00000452225.2_Intron|SMPD4_ENST00000453750.1_Intron|SMPD4_ENST00000339679.7_Missense_Mutation_p.R26L NM_017951.4 NP_060421.2 Q9NXE4 NSMA3_HUMAN sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3) 75 sphingomyelin catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 Colorectal(110;0.1) Phosphatidylserine(DB00144) ACAGGATTCACGCGCCCCTGT 0.552000 11 48 2.27111e-07 2.42333e-07 1 1 0 KCNC2 3747 broad.mit.edu 37 12 75444377 75444377 + Missense_Mutation SNP G G C TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr12:75444377G>C ENST00000549446.1 - 3 2088 c.1408C>G c.(1408-1410)Cct>Gct p.P470A KCNC2_ENST00000548243.1_5'UTR|KCNC2_ENST00000341669.3_Missense_Mutation_p.P470A|KCNC2_ENST00000548513.1_Missense_Mutation_p.P470A|KCNC2_ENST00000393288.2_Missense_Mutation_p.P470A|KCNC2_ENST00000550433.1_Missense_Mutation_p.P470A|KCNC2_ENST00000350228.2_Missense_Mutation_p.P470A|KCNC2_ENST00000540018.1_Missense_Mutation_p.P470A|KCNC2_ENST00000298972.1_Missense_Mutation_p.P470A NM_001260497.1|NM_139137.3 NP_001247426.1|NP_631875.1 Q96PR1 KCNC2_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 2 470 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex voltage-gated potassium channel activity breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 54 ACAATGACAGGCACTGGCATG 0.507000 11 14 0 0 1 0 0 STRN 6801 broad.mit.edu 37 2 37152290 37152290 + Missense_Mutation SNP A A T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr2:37152290A>T ENST00000263918.4 - 2 304 c.296T>A c.(295-297)gTg>gAg p.V99E STRN_ENST00000379213.2_Missense_Mutation_p.V87E NM_003162.3 NP_003153.2 O43815 STRN_HUMAN striatin, calmodulin binding protein 99 dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 33 Ovarian(717;0.0129)|all_hematologic(82;0.21) GATCCTCCTCACAAGATCCTT 0.393000 7 157 0 0 1 0 0 CDH10 1008 broad.mit.edu 37 5 24537702 24537702 + Missense_Mutation SNP C C T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr5:24537702C>T ENST00000264463.4 - 3 820 c.313G>A c.(313-315)Gat>Aat p.D105N NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 105 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.D105H(1) NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) GTTTTTTCATCAATAATAAAA 0.378000 HNSCC(23;0.051) 23 47 0 0 1 0 0 RAP2B 5912 broad.mit.edu 37 3 152880659 152880659 + Silent SNP G G A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr3:152880659G>A ENST00000323534.2 + 1 631 c.177G>A c.(175-177)gcG>gcA p.A59A NM_002886.2 NP_002877.2 P61225 RAP2B_HUMAN RAP2B, member of RAS oncogene family 59 Rap protein signal transduction|regulation of protein tyrosine kinase activity recycling endosome membrane GTP binding|GTPase activity NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1) 7 LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11) TGGATACGGCGGGCACCGAGC 0.587000 106 32 0 0 1 0 0 TTC6 319089 broad.mit.edu 37 14 38281595 38281595 + Missense_Mutation SNP G G A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr14:38281595G>A ENST00000553443.1 + 25 4646 c.4646G>A c.(4645-4647)gGa>gAa p.G1549E TTC6_ENST00000476979.1_Missense_Mutation_p.G183E|TTC6_ENST00000382320.3_Missense_Mutation_p.G263E|TTC6_ENST00000267368.7_Missense_Mutation_p.G183E tetratricopeptide repeat domain 6 central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)|urinary_tract(1) 14 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;1.59e-06)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0543)|all cancers(34;0.108)|BRCA - Breast invasive adenocarcinoma(188;0.156)|LUSC - Lung squamous cell carcinoma(13;0.176) GBM - Glioblastoma multiforme(112;0.00551) CTTAATCGTGGACTCATCTAC 0.378000 61 186 0 0 1 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113519663 113519663 + Missense_Mutation SNP G G A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr7:113519663G>A ENST00000284601.3 - 4 1552 c.1484C>T c.(1483-1485)gCa>gTa p.A495V NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 495 glycogen metabolic process integral to membrane NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 TTTGAGACATGCCGACGTATC 0.333000 16 21 0 0 1 0 0 HSPA13 6782 broad.mit.edu 37 21 15746400 15746400 + Missense_Mutation SNP C C G TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr21:15746400C>G ENST00000285667.3 - 5 1021 c.954G>C c.(952-954)agG>agC p.R318S HSPA13_ENST00000544452.1_Missense_Mutation_p.R110S NM_006948.4 NP_008879.3 P48723 HSP13_HUMAN heat shock protein 70kDa family, member 13 318 endoplasmic reticulum|microsome ATP binding NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 13 GAGGTTCCTTCCTGTCCTGCT 0.458000 35 29 0 0 1 0 0 TNRC6A 27327 broad.mit.edu 37 16 24835027 24835027 + Missense_Mutation SNP G G T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr16:24835027G>T ENST00000395799.3 + 25 5917 c.5788G>T c.(5788-5790)Ggt>Tgt p.G1930C TNRC6A_ENST00000432286.2_Missense_Mutation_p.G408C|TNRC6A_ENST00000315183.7_Missense_Mutation_p.G1881C NM_014494.2 NP_055309.2 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 1930 Sufficient for interaction with EIF2C2. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 GBM - Glioblastoma multiforme(48;0.0394) AAGCCTGTGGGGTCCCCCAAG 0.567000 81 104 2.24395e-52 3.34492e-52 1 1 0 PCDH15 65217 broad.mit.edu 37 10 55569237 55569237 + Missense_Mutation SNP C C T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr10:55569237C>T ENST00000395445.1 - 36 4967 c.4573G>A c.(4573-4575)Gta>Ata p.V1525I PCDH15_ENST00000395446.1_Missense_Mutation_p.V721I|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000409834.1_3'UTR|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395440.1_Missense_Mutation_p.V459I|PCDH15_ENST00000395438.1_3'UTR|PCDH15_ENST00000395442.1_Missense_Mutation_p.V390I NM_001142769.1 NP_001136241.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 0 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) TCGATAGTTACAACTACTTCT 0.378000 HNSCC(58;0.16) 35 61 0 0 1 0 0 KCNA4 3739 broad.mit.edu 37 11 30033924 30033924 + Missense_Mutation SNP C C A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr11:30033924C>A ENST00000328224.6 - 2 1535 c.302G>T c.(301-303)aGc>aTc p.S101I NM_002233.3 NP_002224.1 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 4 101 voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 ATGAGGGAAGCTGCTCTGCCG 0.612000 27 42 1.26454e-06 1.33853e-06 1 1 0 EIF4G3 8672 broad.mit.edu 37 1 21133930 21133930 + Missense_Mutation SNP T T C TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr1:21133930T>C ENST00000602326.1 - 35 5241 c.4658A>G c.(4657-4659)tAc>tGc p.Y1553C EIF4G3_ENST00000537738.1_Missense_Mutation_p.Y1037C|EIF4G3_ENST00000264211.8_Missense_Mutation_p.Y1547C|EIF4G3_ENST00000400422.1_Missense_Mutation_p.Y1547C|EIF4G3_ENST00000374935.3_Missense_Mutation_p.Y1267C|EIF4G3_ENST00000374937.3_Missense_Mutation_p.Y1553C|EIF4G3_ENST00000536266.1_Missense_Mutation_p.Y1151C NM_001198802.1 NP_001185731.1 O43432 IF4G3_HUMAN eukaryotic translation initiation factor 4 gamma, 3 1547 EIF4A-binding (By similarity).|W2. interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|RNA cap binding|translation initiation factor activity endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3) 70 all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191) CTCCCATTTGTAGAAGGCATC 0.498000 231 118 0 0 1 0 0 CCDC178 374864 broad.mit.edu 37 18 30926280 30926280 + Nonsense_Mutation SNP C C A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr18:30926280C>A ENST00000383096.3 - 9 735 c.553G>T c.(553-555)Gaa>Taa p.E185* CCDC178_ENST00000583930.1_Nonsense_Mutation_p.E185*|CCDC178_ENST00000403303.1_Nonsense_Mutation_p.E185*|CCDC178_ENST00000402325.1_Nonsense_Mutation_p.E185*|CCDC178_ENST00000300227.8_Nonsense_Mutation_p.E185*|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000579947.1_Nonsense_Mutation_p.E185*|CCDC178_ENST00000406524.2_Nonsense_Mutation_p.E185* coiled-coil domain containing 178 AAAGCTTCTTCAGCGTCTGCC 0.398000 37 51 2.04263e-09 2.24577e-09 1 1 0 C16orf93 90835 broad.mit.edu 37 16 30770380 30770380 + Missense_Mutation SNP G G A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr16:30770380G>A ENST00000543610.1 - 8 1731 c.770C>T c.(769-771)cCg>cTg p.P257L C16orf93_ENST00000541260.1_Missense_Mutation_p.P322L|PHKG2_ENST00000563588.1_3'UTR|PHKG2_ENST00000424889.3_Intron NM_001014979.2 NP_001014979.2 A1A4V9 CP093_HUMAN chromosome 16 open reading frame 93 257 breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6) 11 CTCTTTCTGCGGGGTAACTGC 0.597000 58 207 0 0 1 0 0 GCC2 9648 broad.mit.edu 37 2 109098746 109098746 + Missense_Mutation SNP G G A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr2:109098746G>A ENST00000309863.6 + 11 3898 c.3184G>A c.(3184-3186)Gaa>Aaa p.E1062K NM_181453.3 NP_852118.1 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain containing 2 1062 Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 ATTTCAGTGTGAAACAATAAA 0.328000 20 62 0 0 1 0 0 ITCH 83737 broad.mit.edu 37 20 33028041 33028041 + Missense_Mutation SNP C C G TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr20:33028041C>G ENST00000374864.4 + 9 974 c.761C>G c.(760-762)aCa>aGa p.T254R ITCH_ENST00000535650.1_Missense_Mutation_p.T144R|ITCH_ENST00000262650.6_Missense_Mutation_p.T295R NM_001257137.1|NM_001257138.1|NM_031483.5 NP_001244066.1|NP_001244067.1|NP_113671.3 Q96J02 ITCH_HUMAN itchy E3 ubiquitin protein ligase 295 Arg/Pro-rich (PRR domain). apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus cytosol|nucleus|plasma membrane CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1) 36 AATACAAATACAAATACATCT 0.433000 61 37 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13901660 13901660 + Missense_Mutation SNP T T C TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr5:13901660T>C ENST00000265104.4 - 14 1857 c.1753A>G c.(1753-1755)Att>Gtt p.I585V NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 585 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TTGTCATCAATACCAAGATTA 0.289000 Kartagener syndrome 22 24 0 0 1 0 0 STARD3NL 83930 broad.mit.edu 37 7 38254007 38254007 + Missense_Mutation SNP A A T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr7:38254007A>T ENST00000009041.7 + 3 532 c.275A>T c.(274-276)gAc>gTc p.D92V STARD3NL_ENST00000544203.1_Missense_Mutation_p.D85V|STARD3NL_ENST00000434197.1_Missense_Mutation_p.D92V|STARD3NL_ENST00000396013.1_Missense_Mutation_p.D92V NM_032016.3 NP_114405.1 O95772 MENTO_HUMAN STARD3 N-terminal like 92 MENTAL. integral to membrane|late endosome membrane endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 10 ATGCAGTATGACTACTATTCT 0.338000 36 77 0 0 1 0 0 ZDBF2 57683 broad.mit.edu 37 2 207171440 207171440 + Missense_Mutation SNP A A C TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr2:207171440A>C ENST00000374423.3 + 5 2574 c.2188A>C c.(2188-2190)Aat>Cat p.N730H NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 730 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 GGATGAAGTAAATCTTAAAGA 0.413000 31 72 0 0 1 0 0 CDH9 1007 broad.mit.edu 37 5 26885835 26885835 + Silent SNP G G T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr5:26885835G>T ENST00000231021.4 - 11 1942 c.1770C>A c.(1768-1770)gcC>gcA p.A590A NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 590 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 GATTATCGCAGGCACACACAC 0.488000 18 14 8.34094e-07 8.85251e-07 1 1 0 BMP3 651 broad.mit.edu 37 4 81952498 81952498 + Silent SNP G G T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr4:81952498G>T ENST00000282701.2 + 1 380 c.60G>T c.(58-60)gcG>gcT p.A20A NM_001201.2 NP_001192.2 P12645 BMP3_HUMAN bone morphogenetic protein 3 20 cartilage development|cell differentiation|cell-cell signaling|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1) 29 TGAGCCTGGCGCAGGGAGAGA 0.701000 13 16 0.000308642 0.000318237 1 1 0 CDX2 1045 broad.mit.edu 37 13 28542988 28542988 + Silent SNP T T A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr13:28542988T>A ENST00000381020.7 - 1 2288 c.156A>T c.(154-156)gcA>gcT p.A52A NM_001265.4 NP_001256.3 Q99626 CDX2_HUMAN caudal type homeobox 2 52 Poly-Ala. AA -> Q (in Ref. 2; AAB40603). organ morphogenesis|transcription from RNA polymerase II promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(1)|lung(6) 9 all_cancers(110;0.191)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155) Lung SC(185;0.0156) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) GBM - Glioblastoma multiforme(144;0.0407)|all cancers(112;0.0491)|OV - Ovarian serous cystadenocarcinoma(117;0.199) CCAAGTTCGCTGCCGCTGCAG 0.726000 T ETV6 AML 2 3 0 0 1 0 0 ST6GAL2 84620 broad.mit.edu 37 2 107460300 107460300 + Missense_Mutation SNP A A G TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr2:107460300A>G ENST00000409382.3 - 2 744 c.134T>C c.(133-135)tTc>tCc p.F45S ST6GAL2_ENST00000409087.3_Missense_Mutation_p.F45S|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.F45S NM_001142351.1 NP_001135823.1 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 45 growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 65 GGTCTCCAGGAAGGAGAGGGA 0.627000 5 8 0 0 1 0 0 ACAN 176 broad.mit.edu 37 15 89401209 89401209 + Missense_Mutation SNP A A G TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr15:89401209A>G ENST00000439576.2 + 12 5767 c.5393A>G c.(5392-5394)cAg>cGg p.Q1798R ACAN_ENST00000561243.1_Missense_Mutation_p.Q1798R|ACAN_ENST00000352105.7_Missense_Mutation_p.Q1798R|ACAN_ENST00000559004.1_Missense_Mutation_p.Q1798R NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 1798 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) CTCAGTGGGCAGCCTTCAGGG 0.507000 13 26 0 0 1 0 0 GLB1 2720 broad.mit.edu 37 3 33055583 33055583 + Nonsense_Mutation SNP G G A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr3:33055583G>A ENST00000307363.5 - 15 1843 c.1699C>T c.(1699-1701)Cag>Tag p.Q567* GLB1_ENST00000307377.8_Nonsense_Mutation_p.Q436*|GLB1_ENST00000399402.3_Nonsense_Mutation_p.Q537*|GLB1_ENST00000445488.2_Nonsense_Mutation_p.Q615* NM_000404.2 NP_000395.2 P16278 BGAL_HUMAN galactosidase, beta 1 567 carbohydrate metabolic process lysosome|perinuclear region of cytoplasm beta-galactosidase activity|cation binding|protein binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 21 Melanoma(143;0.104) AAGGTGTCCTGGGGCAAGTCT 0.502000 43 13 0 0 1 0 0 ABCB1 5243 broad.mit.edu 37 7 87199537 87199537 + Missense_Mutation SNP C C G TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr7:87199537C>G ENST00000265724.3 - 6 706 c.289G>C c.(289-291)Gat>Cat p.D97H ABCB1_ENST00000543898.1_Missense_Mutation_p.D97H NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 97 ABC transmembrane type-1 1. G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) TCATTGATATCACCTAGACCA 0.303000 65 86 0 0 1 0 0 ANKRD36 375248 broad.mit.edu 37 2 97869965 97869965 + Missense_Mutation SNP C C G TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr2:97869965C>G ENST00000420699.2 + 50 3270 c.3026C>G c.(3025-3027)gCc>gGc p.A1009G ANKRD36_ENST00000461153.2_Missense_Mutation_p.A1009G NM_001164315.1 NP_001157787.1 A6QL64 AN36A_HUMAN ankyrin repeat domain 36 1009 endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 23 TTGAATATAGCCAGAGGAAAA 0.308000 4 5 0 0 1 0 0 GABRB3 2562 broad.mit.edu 37 15 26866525 26866525 + Nonsense_Mutation SNP C C A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr15:26866525C>A ENST00000541819.2 - 5 667 c.565G>T c.(565-567)Gga>Tga p.G189* GABRB3_ENST00000400188.3_Nonsense_Mutation_p.G62*|GABRB3_ENST00000299267.4_Nonsense_Mutation_p.G133*|GABRB3_ENST00000311550.5_Nonsense_Mutation_p.G133*|GABRB3_ENST00000545868.1_Nonsense_Mutation_p.G48* P28472 GBRB3_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 3 133 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 68 all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232) all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) ACTGTCACTCCATGCACAAAT 0.493000 49 102 2.6711e-34 3.69131e-34 1 1 0 GPR158 57512 broad.mit.edu 37 10 25464537 25464537 + Missense_Mutation SNP G G C TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr10:25464537G>C ENST00000376351.3 + 1 547 c.188G>C c.(187-189)cGc>cCc p.R63P GPR158-AS1_ENST00000449643.1_RNA NM_020752.2 NP_065803.2 Q5T848 GP158_HUMAN G protein-coupled receptor 158 63 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 CCCTGGAGCCGCTCCACCGAT 0.682000 30 25 0 0 1 0 0 SLIT3 6586 broad.mit.edu 37 5 168114105 168114105 + Missense_Mutation SNP C C A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr5:168114105C>A ENST00000519560.1 - 30 3612 c.3193G>T c.(3193-3195)Ggc>Tgc p.G1065C SLIT3_ENST00000332966.8_Missense_Mutation_p.G1072C|SLIT3_ENST00000404867.3_Missense_Mutation_p.G1065C NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 1065 EGF-like 4. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CCGCTGTAGCCAGGGACACAC 0.602000 34 12 6.57855e-14 7.70077e-14 1 1 0 OR4K5 79317 broad.mit.edu 37 14 20388777 20388777 + Silent SNP C C A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr14:20388777C>A ENST00000315915.4 + 1 37 c.12C>A c.(10-12)tcC>tcA p.S4S NM_001005483.1 NP_001005483.1 Q8NGD3 OR4K5_HUMAN olfactory receptor, family 4, subfamily K, member 5 4 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TGGATAAGTCCAATTCTTCAG 0.348000 33 114 5.37117e-13 6.1784e-13 1 1 0 PPP1R21 129285 broad.mit.edu 37 2 48687258 48687258 + Nonsense_Mutation SNP G G T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr2:48687258G>T ENST00000294952.8 + 6 722 c.565G>T c.(565-567)Gaa>Taa p.E189* PPP1R21_ENST00000449090.2_Nonsense_Mutation_p.E189*|PPP1R21_ENST00000281394.4_Nonsense_Mutation_p.E189* NM_001135629.2 NP_001129101.1 Q6ZMI0 KLRAQ_HUMAN protein phosphatase 1, regulatory subunit 21 189 endometrium(2)|kidney(4)|lung(9) 15 TCTAGAAAAGGAAGCCAAGGA 0.438000 11 30 6.81908e-15 8.15013e-15 1 1 0 UGT2B28 54490 broad.mit.edu 37 4 70146303 70146303 + Missense_Mutation SNP T T A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr4:70146303T>A ENST00000335568.5 + 1 87 c.85T>A c.(85-87)Tgg>Agg p.W29R UGT2B28_ENST00000511240.1_Missense_Mutation_p.W29R NM_053039.1 NP_444267.1 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B28 29 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 Flunitrazepam(DB01544) GGTGCTGGTGTGGACCGGTGA 0.468000 151 29 0 0 1 0 0 MOV10 4343 broad.mit.edu 37 1 113235478 113235478 + Missense_Mutation SNP G G A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr1:113235478G>A ENST00000369644.1 + 8 1928 c.899G>A c.(898-900)cGg>cAg p.R300Q MOV10_ENST00000413052.2_Missense_Mutation_p.R356Q|MOV10_ENST00000369645.1_Missense_Mutation_p.R356Q|MOV10_ENST00000357443.2_Missense_Mutation_p.R356Q|MOV10_ENST00000468624.1_3'UTR Q9HCE1 MOV10_HUMAN Mov10, Moloney leukemia virus 10, homolog (mouse) 356 mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body ATP binding|helicase activity|protein binding|RNA binding breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3) 38 Lung SC(450;0.246) all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114) OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24) CATGATATCCGGCACTATGAC 0.607000 20 10 0 0 1 0 0 LINC00969 440993 broad.mit.edu 37 3 195410687 195410687 + RNA SNP T T A rs6583274 by1000genomes TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr3:195410687T>A ENST00000445430.1 + 0 1884 CCCTTTGAGGTGCACTGGAGG 0.567000 4 35 0 0 1 0 0 NPHP4 261734 broad.mit.edu 37 1 5967264 5967264 + Missense_Mutation SNP C C A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr1:5967264C>A ENST00000378156.4 - 13 1787 c.1522G>T c.(1522-1524)Gcg>Tcg p.A508S NPHP4_ENST00000478423.2_Intron NM_015102.3 NP_055917.1 O75161 NPHP4_HUMAN nephronophthisis 4 508 actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior cell-cell junction|centrosome|cilium|microtubule basal body protein binding|structural molecule activity NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4) 47 Ovarian(185;0.0634) all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213) Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649) GGGGAGGCCGCCAGCTGGGAA 0.632000 3 10 0.004672 0.00474351 1 1 0 FAM126A 84668 broad.mit.edu 37 7 23016318 23016318 + Missense_Mutation SNP T T C TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr7:23016318T>C ENST00000432176.2 - 6 756 c.524A>G c.(523-525)cAg>cGg p.Q175R FAM126A_ENST00000409923.1_Missense_Mutation_p.Q175R NM_032581.3 NP_115970.2 Q9BYI3 HYCCI_HUMAN family with sequence similarity 126, member A 175 cytoplasm|membrane signal transducer activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2) 23 ATACCGATTCTGTGCTGTCAG 0.373000 52 75 0 0 1 0 0 MTRR 4552 broad.mit.edu 37 5 7892968 7892968 + Missense_Mutation SNP T T C TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr5:7892968T>C ENST00000264668.2 + 11 1610 c.1580T>C c.(1579-1581)gTt>gCt p.V527A MTRR_ENST00000440940.2_Missense_Mutation_p.V500A NM_002454.2|NM_024010.2 NP_002445.2|NP_076915.2 Q9UBK8 MTRR_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase reductase 527 FAD-binding FR-type. methionine biosynthetic process cytosol [methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1) 31 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134) GTTGCTTCAGTTCTTCAGCCA 0.458000 32 34 0 0 1 0 0 CDH2 1000 broad.mit.edu 37 18 25583079 25583079 + Missense_Mutation SNP T T C TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr18:25583079T>C ENST00000269141.3 - 7 1325 c.902A>G c.(901-903)aAt>aGt p.N301S CDH2_ENST00000399380.3_Missense_Mutation_p.N270S NM_001792.3 NP_001783.2 P19022 CADH2_HUMAN cadherin 2, type 1, N-cadherin (neuronal) 301 Cadherin 2. adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation catenin complex|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 CAACATCCCATTGAGGGCATT 0.458000 41 75 0 0 1 0 0 SDR39U1 56948 broad.mit.edu 37 14 24911632 24911632 + Missense_Mutation SNP C C G TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr14:24911632C>G ENST00000399395.3 - 2 76 c.43G>C c.(43-45)Gcc>Ccc p.A15P SDR39U1_ENST00000554698.1_5'UTR|SDR39U1_ENST00000553930.1_5'UTR|SDR39U1_ENST00000555365.1_5'UTR|SDR39U1_ENST00000538105.2_5'UTR NM_020195.2 NP_064580.2 Q9NRG7 D39U1_HUMAN short chain dehydrogenase/reductase family 39U, member 1 0 binding NS(1)|central_nervous_system(1)|large_intestine(2)|pancreas(1) 5 TGGGTTAGGGCTGTCCCAATG 0.602000 4 13 0 0 1 0 0 ACSS3 79611 broad.mit.edu 37 12 81627150 81627150 + Missense_Mutation SNP C C G TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr12:81627150C>G ENST00000548058.1 + 13 2529 c.1619C>G c.(1618-1620)gCt>gGt p.A540G ACSS3_ENST00000548324.1_Missense_Mutation_p.A222G|ACSS3_ENST00000261206.3_Missense_Mutation_p.A539G Q9H6R3 ACSS3_HUMAN acyl-CoA synthetase short-chain family member 3 540 mitochondrion acetate-CoA ligase activity|ATP binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 51 ACCATGGATGCTGGTTACATG 0.348000 31 64 0 0 1 0 0 TIAM1 7074 broad.mit.edu 37 21 32595879 32595879 + Missense_Mutation SNP T T A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr21:32595879T>A ENST00000286827.3 - 9 2309 c.1838A>T c.(1837-1839)cAg>cTg p.Q613L TIAM1_ENST00000469412.1_5'UTR|TIAM1_ENST00000541036.1_Missense_Mutation_p.Q613L NM_003253.2 NP_003244.2 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 613 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 CATTTGGAACTGCTCGAGATT 0.438000 40 57 0 0 1 0 0 TAS2R41 259287 broad.mit.edu 37 7 143175119 143175119 + Missense_Mutation SNP G G T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr7:143175119G>T ENST00000408916.1 + 1 154 c.154G>T c.(154-156)Ggt>Tgt p.G52C EPHA1-AS1_ENST00000429289.1_RNA NM_176883.2 NP_795364.2 P59536 T2R41_HUMAN taste receptor, type 2, member 41 52 sensory perception of taste integral to membrane G-protein coupled receptor activity endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1) 18 Melanoma(164;0.15) CATTAGCTTGGGTGCCTCCCG 0.572000 83 90 8.34767e-46 1.23969e-45 1 1 0 IGHV1OR15-9 390531 broad.mit.edu 37 15 20169986 20169986 + RNA SNP C C A rs143332200 by1000genomes TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr15:20169986C>A ENST00000338912.5 - 0 285 TAGGCTGTGCCCATGGATGTG 0.522000 104 143 2.5327e-61 3.80383e-61 1 1 0 RELN 5649 broad.mit.edu 37 7 103270586 103270586 + Missense_Mutation SNP A A T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr7:103270586A>T ENST00000424685.2 - 20 2662 c.2503T>A c.(2503-2505)Ttt>Att p.F835I RELN_ENST00000343529.5_Missense_Mutation_p.F835I|RELN_ENST00000428762.1_Missense_Mutation_p.F835I P78509 RELN_HUMAN reelin 835 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) TGAATTCCAAACTGCTTTGCA 0.338000 47 76 0 0 1 0 0 SMG8 55181 broad.mit.edu 37 17 57287713 57287713 + Nonsense_Mutation SNP G G T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr17:57287713G>T ENST00000543872.2 + 2 565 c.301G>T c.(301-303)Gag>Tag p.E101* SMG8_ENST00000300917.5_Nonsense_Mutation_p.E101*|SMG8_ENST00000580498.1_Intron|SMG8_ENST00000578922.1_Nonsense_Mutation_p.E101*|CTD-2510F5.6_ENST00000577660.1_Intron Q8ND04 SMG8_HUMAN SMG8 nonsense mediated mRNA decay factor 101 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity protein binding NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1) 33 CGCCGTGGGTGAGGCCGGTGG 0.632000 13 16 1.05317e-09 1.16111e-09 1 1 0 DNAJC10 54431 broad.mit.edu 37 2 183593347 183593347 + Missense_Mutation SNP T T C TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr2:183593347T>C ENST00000264065.6 + 6 878 c.463T>C c.(463-465)Tcc>Ccc p.S155P DNAJC10_ENST00000537515.1_Missense_Mutation_p.S155P|DNAJC10_ENST00000469118.1_3'UTR NM_018981.1 NP_061854.1 Q8IXB1 DJC10_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 10 155 Thioredoxin 1. apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1) 32 OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209) AAATTTTTACTCCCCAGGCTG 0.313000 61 37 0 0 1 0 0 ROBO2 6092 broad.mit.edu 37 3 77572051 77572051 + Missense_Mutation SNP G G C TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr3:77572051G>C ENST00000461745.1 + 6 1832 c.932G>C c.(931-933)cGa>cCa p.R311P ROBO2_ENST00000332191.8_Missense_Mutation_p.R311P|ROBO2_ENST00000487694.3_Missense_Mutation_p.R327P NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 311 apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) CTCACCGTCCGAGGTAAGAGA 0.363000 11 55 0 0 1 0 0 LELP1 149018 broad.mit.edu 37 1 153177225 153177225 + Silent SNP T T C TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr1:153177225T>C ENST00000368747.1 + 2 152 c.42T>C c.(40-42)acT>acC p.T14T NM_001010857.1 NP_001010857.1 Q5T871 LELP1_HUMAN late cornified envelope-like proline-rich 1 14 NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|pancreas(1)|prostate(1) 19 all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) ACCCCAAGACTGAGCCCAAGA 0.448000 59 124 0 0 1 0 0 KBTBD6 89890 broad.mit.edu 37 13 41704875 41704875 + Silent SNP C C T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr13:41704875C>T ENST00000379485.1 - 1 2007 c.1773G>A c.(1771-1773)agG>agA p.R591R KBTBD6_ENST00000499385.2_Silent_p.R525R NM_152903.4 NP_690867.3 Q86V97 KBTB6_HUMAN kelch repeat and BTB (POZ) domain containing 6 591 protein binding NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4) 43 Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673) ATTGGTCTCCCCTAATATCAT 0.423000 61 27 0 0 1 0 0 CXXC11 285093 broad.mit.edu 37 2 242814603 242814603 + Missense_Mutation SNP C C A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr2:242814603C>A ENST00000343216.3 + 2 924 c.896C>A c.(895-897)cCg>cAg p.P299Q NM_173821.2 NP_776182.2 Q14D33 CB085_HUMAN CXXC finger protein 11 299 integral to membrane CTCTGCAGCCCGGTTGGCGTG 0.667000 14 45 7.07596e-05 7.39168e-05 1 1 0 GABRG1 2565 broad.mit.edu 37 4 46043202 46043202 + Missense_Mutation SNP C C A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr4:46043202C>A ENST00000295452.4 - 9 1368 c.1201G>T c.(1201-1203)Gat>Tat p.D401Y NM_173536.3 NP_775807.2 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 1 401 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) TACCCATAATCATCTTCTTGC 0.418000 13 79 2.61681e-11 2.93378e-11 1 1 0 LILRB5 10990 broad.mit.edu 37 19 54759183 54759183 + Silent SNP C C A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr19:54759183C>A ENST00000450632.1 - 5 968 c.891G>T c.(889-891)tcG>tcT p.S297S LILRB5_ENST00000449561.2_Silent_p.S306S|LILRB5_ENST00000316219.5_Silent_p.S306S|LILRB5_ENST00000345866.6_Silent_p.S206S O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 306 Ig-like C2-type 3. cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CGCTGGGGGCCGACCACCTAG 0.677000 26 15 1.39806e-14 1.66595e-14 1 1 0 DPP6 1804 broad.mit.edu 37 7 154585852 154585852 + Missense_Mutation SNP C C A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr7:154585852C>A ENST00000404039.1 + 11 1595 c.1008C>A c.(1006-1008)aaC>aaA p.N336K DPP6_ENST00000427557.1_Missense_Mutation_p.N293K|DPP6_ENST00000377770.3_Missense_Mutation_p.N400K|DPP6_ENST00000332007.3_Missense_Mutation_p.N338K NM_001039350.1|NM_001936.3|NM_130797.2 NP_001034439.1|NP_001927.3|NP_570629.2 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 400 cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 71 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) CCTGGCTGAACCGGGCGCAGA 0.637000 16 18 2.39556e-15 2.8892e-15 1 1 0 CR1 1378 broad.mit.edu 37 1 207793405 207793405 + Missense_Mutation SNP C C A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr1:207793405C>A ENST00000367049.4 + 43 7247 c.7247C>A c.(7246-7248)aCc>aAc p.T2416N CR1_ENST00000367051.1_Missense_Mutation_p.T1966N|CR1_ENST00000367052.1_Missense_Mutation_p.T1966N|CR1_ENST00000400960.2_Missense_Mutation_p.T1966N|CR1_ENST00000367053.1_Missense_Mutation_p.T1966N NM_000651.4 NP_000642.3 P17927 CR1_HUMAN complement component (3b/4b) receptor 1 (Knops blood group) 1966 complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 GCCAAATGTACCTCTCGTAAG 0.483000 OREG0014194 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 28 0.000602214 0.000617735 1 1 0 LRRK1 79705 broad.mit.edu 37 15 101569284 101569284 + Missense_Mutation SNP T T G TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr15:101569284T>G ENST00000284395.5 + 21 3201 c.2801T>G c.(2800-2802)aTt>aGt p.I934S LRRK1_ENST00000388948.3_Missense_Mutation_p.I937S Q38SD2 LRRK1_HUMAN leucine-rich repeat kinase 1 937 small GTPase mediated signal transduction mitochondrion ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1) 72 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) ATCTTTAATATTAAGGGCTCT 0.567000 14 46 0 0 1 0 0 ZDBF2 57683 broad.mit.edu 37 2 207171010 207171010 + Silent SNP T T C TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr2:207171010T>C ENST00000374423.3 + 5 2144 c.1758T>C c.(1756-1758)gaT>gaC p.D586D NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 586 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 TTGATTGTGATGTTTCTCTTG 0.423000 6 25 0 0 1 0 0 OR4K14 122740 broad.mit.edu 37 14 20482814 20482814 + Missense_Mutation SNP C C A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr14:20482814C>A ENST00000305045.2 - 1 538 c.539G>T c.(538-540)tGt>tTt p.C180F NM_001004712.1 NP_001004712.1 Q8NGD5 OR4KE_HUMAN olfactory receptor, family 4, subfamily K, member 14 180 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6) 37 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2e-06) GBM - Glioblastoma multiforme(265;0.00124) AGGGAGGTCACAGAAGAAGCT 0.473000 30 45 3.76114e-14 4.44193e-14 1 1 0 SND1 27044 broad.mit.edu 37 7 127725833 127725833 + Splice_Site SNP G G A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr7:127725833G>A ENST00000354725.3 + 20 2498 c.e20+1 NM_014390.2 NP_055205.2 Q7KZF4 SND1_HUMAN staphylococcal nuclease and tudor domain containing 1 gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent melanosome|nucleus|RNA-induced silencing complex nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 41 CTACGGCAACGTGAGTGTTGG 0.517000 28 69 0 0 1 0 0 ATP13A5 344905 broad.mit.edu 37 3 193036809 193036809 + Silent SNP C C A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr3:193036809C>A ENST00000342358.4 - 17 2121 c.2004G>T c.(2002-2004)ggG>ggT p.G668G NM_198505.2 NP_940907.2 Q4VNC0 AT135_HUMAN ATPase type 13A5 668 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) CTGAAAGATTCCCCATCTTTA 0.502000 70 32 2.9551e-36 4.12677e-36 1 1 0 POC1B-GALNT4 100528030 broad.mit.edu 37 12 89917073 89917073 + Silent SNP C C A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr12:89917073C>A ENST00000548729.1 - 3 1547 c.1245G>T c.(1243-1245)cgG>cgT p.R415R POC1B-GALNT4_ENST00000413530.1_Silent_p.R246R|POC1B-GALNT4_ENST00000547474.1_3'UTR|POC1B_ENST00000393179.4_Intron|GALNT4_ENST00000529983.2_Silent_p.R418R|POC1B_ENST00000541909.1_Intron|POC1B_ENST00000549504.1_Intron|POC1B_ENST00000313546.3_Intron|POC1B_ENST00000549035.1_Intron NM_001199781.1|NM_001199782.1 NP_001186710.1|NP_001186711.1 TGCATCTCAACCGCTCTCGTA 0.403000 21 35 2.52088e-20 3.18511e-20 1 1 0 SULT1A2 6799 broad.mit.edu 37 16 28606784 28606784 + Missense_Mutation SNP C C T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr16:28606784C>T ENST00000533150.1 - 2 1477 c.361G>A c.(361-363)Gat>Aat p.D121N SULT1A2_ENST00000335715.4_Splice_Site_p.G92_splice|SULT1A2_ENST00000395630.1_Splice_Site_p.G92_splice P50226 ST1A2_HUMAN sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2 125 3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process cytosol aryl sulfotransferase activity|flavonol 3-sulfotransferase activity NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2) 14 GAGTCTCCATCCCTGAGCAGT 0.592000 55 86 0 0 1 0 0 ZMYND12 84217 broad.mit.edu 37 1 42898847 42898847 + Silent SNP G G A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr1:42898847G>A ENST00000372565.3 - 7 1211 c.942C>T c.(940-942)gtC>gtT p.V314V ZMYND12_ENST00000433602.2_Silent_p.V204V|ZMYND12_ENST00000475426.1_5'UTR NM_032257.4 NP_115633.3 Q9H0C1 ZMY12_HUMAN zinc finger, MYND-type containing 12 314 intracellular zinc ion binding NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2) 17 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) AGTAAAACATGACCAGGATCT 0.378000 37 132 0 0 1 0 0 NCAN 1463 broad.mit.edu 37 19 19359518 19359518 + Missense_Mutation SNP G G T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr19:19359518G>T ENST00000252575.5 + 14 3690 c.3647G>T c.(3646-3648)gGt>gTt p.G1216V NCAN_ENST00000538881.1_Missense_Mutation_p.G667V NM_004386.2 NP_004377.2 O14594 NCAN_HUMAN neurocan 1216 Sushi. axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 Epithelial(12;0.00544) GTGCTCTGTGGTCCCCCTCCG 0.517000 4 27 0.00909568 0.0092114 1 1 0 MYBPH 4608 broad.mit.edu 37 1 203138423 203138423 + Silent SNP G G T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr1:203138423G>T ENST00000255416.4 - 8 1245 c.1188C>A c.(1186-1188)ggC>ggA p.G396G NM_004997.2 NP_004988.2 Q13203 MYBPH_HUMAN myosin binding protein H 396 Ig-like C2-type 2. cell adhesion|regulation of striated muscle contraction myosin filament structural constituent of muscle endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1) 20 BRCA - Breast invasive adenocarcinoma(75;0.153) Colorectal(1306;0.0306) GGGTGCTGTAGCCAGGGGTGG 0.612000 21 5 3.7963e-18 4.70694e-18 1 1 0 TIMD4 91937 broad.mit.edu 37 5 156378792 156378792 + Missense_Mutation SNP G G T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr5:156378792G>T ENST00000274532.2 - 3 466 c.410C>A c.(409-411)aCc>aAc p.T137N TIMD4_ENST00000407087.3_Missense_Mutation_p.T137N NM_138379.2 NP_612388.2 Q96H15 TIMD4_HUMAN T-cell immunoglobulin and mucin domain containing 4 137 Thr-rich. integral to membrane NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2) 37 Renal(175;0.00488) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TCTGTGCGTGGTTGTTGAGGC 0.483000 191 73 1.13899e-125 1.74353e-125 1 1 0 HMCN1 83872 broad.mit.edu 37 1 185992227 185992227 + Silent SNP A A C TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr1:185992227A>C ENST00000271588.4 + 36 5920 c.5691A>C c.(5689-5691)acA>acC p.T1897T HMCN1_ENST00000367492.2_Silent_p.T1897T NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 1897 Ig-like C2-type 16. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 GCAGATACACATGTGTGGCTA 0.403000 89 15 0 0 1 0 0 DNAAF2 55172 broad.mit.edu 37 14 50101770 50101770 + Missense_Mutation SNP C C T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr14:50101770C>T ENST00000298292.8 - 1 178 c.98G>A c.(97-99)cGg>cAg p.R33Q DNAAF2_ENST00000406043.3_Missense_Mutation_p.R33Q NM_018139.2 NP_060609.2 Q9NVR5 KTU_HUMAN dynein, axonemal, assembly factor 2 33 axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility cytoplasm kidney(1)|lung(4) 5 GAACATTCGCCGGAACTCCGG 0.677000 7 14 0 0 1 0 0 WNK3 65267 broad.mit.edu 37 X 54228562 54228562 + Missense_Mutation SNP C C G TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chrX:54228562C>G ENST00000354646.2 - 23 5373 c.4935G>C c.(4933-4935)atG>atC p.M1645I WNK3_ENST00000375159.2_Missense_Mutation_p.M1645I|WNK3_ENST00000375169.3_Missense_Mutation_p.M1588I NM_020922.4 NP_065973.2 Q9BYP7 WNK3_HUMAN WNK lysine deficient protein kinase 3 1588 intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation adherens junction|tight junction ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 CATCTGTGAACATCCCTTTTT 0.403000 9 4 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179606021 179606021 + Missense_Mutation SNP G G T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr2:179606021G>T ENST00000589042.1 - 48 12163 c.11939C>A c.(11938-11940)aCc>aAc p.T3980N TTN_ENST00000591111.1_Missense_Mutation_p.T3663N|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Missense_Mutation_p.T3809N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T3617N|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T3742N NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 3663 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) ATAAACACTGGTGCAAAGCTG 0.453000 58 53 6.8682e-38 9.69342e-38 1 1 0 SDK2 54549 broad.mit.edu 37 17 71431739 71431739 + Missense_Mutation SNP C C T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr17:71431739C>T ENST00000392650.3 - 9 1045 c.1045G>A c.(1045-1047)Gtg>Atg p.V349M SDK2_ENST00000388726.3_Missense_Mutation_p.V349M NM_001144952.1 NP_001138424.1 Q58EX2 SDK2_HUMAN sidekick cell adhesion molecule 2 349 Ig-like C2-type 4. cell adhesion integral to membrane breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 TCCACCTCCACCACGGCTGCG 0.667000 5 7 0 0 1 0 0 ITGA11 22801 broad.mit.edu 37 15 68623343 68623343 + Missense_Mutation SNP G G T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr15:68623343G>T ENST00000423218.2 - 15 1972 c.1877C>A c.(1876-1878)gCc>gAc p.A626D ITGA11_ENST00000315757.7_Missense_Mutation_p.A626D Q9UKX5 ITA11_HUMAN integrin, alpha 11 626 cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development integrin complex collagen binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 52 Tirofiban(DB00775) GTTGCCAAGGGCTCCCACTGC 0.562000 14 22 1.99824e-07 2.14366e-07 1 1 0 B3GALT1 8708 broad.mit.edu 37 2 168726004 168726004 + Missense_Mutation SNP T T A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr2:168726004T>A ENST00000305861.1 + 2 806 c.455T>A c.(454-456)cTt>cAt p.L152H AC016723.4_ENST00000436982.2_RNA|AC016723.4_ENST00000430546.1_RNA|B3GALT1_ENST00000392690.2_Missense_Mutation_p.L152H NM_020981.3 NP_066191.1 Q9Y5Z6 B3GT1_HUMAN UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1 152 lipid glycosylation|protein glycosylation Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 18 TACCATAACCTTACCCTCAAA 0.423000 32 29 0 0 1 0 0 GDF5 8200 broad.mit.edu 37 20 34025350 34025350 + Missense_Mutation SNP C C A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr20:34025350C>A ENST00000374372.1 - 3 862 c.359G>T c.(358-360)cGg>cTg p.R120L GDF5_ENST00000374369.3_Missense_Mutation_p.R120L P43026 GDF5_HUMAN growth differentiation factor 5 120 cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3) 26 Lung NSC(9;0.00642)|all_lung(11;0.0094) BRCA - Breast invasive adenocarcinoma(18;0.00663) GGTCACAGTCCGGGCTGTAGC 0.632000 18 145 9.7654e-05 0.000101479 1 1 0 NUP188 23511 broad.mit.edu 37 9 131762057 131762057 + Silent SNP G G T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr9:131762057G>T ENST00000372577.2 + 34 3837 c.3816G>T c.(3814-3816)cgG>cgT p.R1272R NM_015354.1 NP_056169.1 Q5SRE5 NU188_HUMAN nucleoporin 188kDa 1272 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 60 ACTGTTCTCGGTCCCGGCACA 0.592000 36 18 2.40228e-13 2.77938e-13 1 1 0 EFTUD1 79631 broad.mit.edu 37 15 82512557 82512557 + Missense_Mutation SNP C C T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr15:82512557C>T ENST00000268206.7 - 13 1474 c.1306G>A c.(1306-1308)Gaa>Aaa p.E436K EFTUD1_ENST00000359445.3_Missense_Mutation_p.E385K NM_024580.5 NP_078856.4 Q7Z2Z2 ETUD1_HUMAN elongation factor Tu GTP binding domain containing 1 436 mature ribosome assembly GTP binding|GTPase activity|ribosome binding|translation elongation factor activity cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 GCAATTTCTTCTTGAGTGAGA 0.502000 10 206 0 0 1 0 0 SATB2 23314 broad.mit.edu 37 2 200213847 200213847 + Missense_Mutation SNP C C A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr2:200213847C>A ENST00000443023.1 - 6 2038 c.573G>T c.(571-573)caG>caT p.Q191H SATB2_ENST00000417098.1_Missense_Mutation_p.Q250H|SATB2_ENST00000457245.1_Missense_Mutation_p.Q250H|SATB2_ENST00000260926.5_Missense_Mutation_p.Q250H|SATB2_ENST00000428695.1_Missense_Mutation_p.Q132H Q9UPW6 SATB2_HUMAN SATB homeobox 2 250 cytoplasm|nuclear matrix sequence-specific DNA binding transcription factor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 GCATTGGACGCTGGCCCAGAA 0.408000 20 27 1.87028e-06 1.97446e-06 1 1 0 ZFHX4 79776 broad.mit.edu 37 8 77763391 77763391 + Missense_Mutation SNP C C A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr8:77763391C>A ENST00000521891.2 + 10 4682 c.4234C>A c.(4234-4236)Ctt>Att p.L1412I ZFHX4_ENST00000518282.1_Missense_Mutation_p.L1386I|ZFHX4_ENST00000050961.6_Missense_Mutation_p.L1367I|ZFHX4_ENST00000455469.2_Missense_Mutation_p.L1367I NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 1367 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) TATGCAGAAGCTTCAGATACA 0.438000 HNSCC(33;0.089) 41 8 7.05377e-20 8.88418e-20 1 1 0 TMEM99 147184 broad.mit.edu 37 17 38991250 38991250 + Missense_Mutation SNP C C G TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr17:38991250C>G ENST00000301665.3 + 3 786 c.482C>G c.(481-483)gCc>gGc p.A161G NM_001195386.1|NM_001195387.1|NM_145274.3 NP_001182315.1|NP_001182316.1|NP_660317.2 Q8N816 TMM99_HUMAN transmembrane protein 99 161 integral to membrane cervix(1)|large_intestine(1)|lung(5)|skin(2)|urinary_tract(1) 10 Breast(137;0.000301) CAATCTCATGCCGGTTGGCAA 0.468000 76 220 0 0 1 0 0 FGF6 2251 broad.mit.edu 37 12 4543450 4543450 + Nonsense_Mutation SNP G G T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr12:4543450G>T ENST00000228837.2 - 3 601 c.558C>A c.(556-558)taC>taA p.Y186* NM_020996.1 NP_066276.2 P10767 FGF6_HUMAN fibroblast growth factor 6 186 angiogenesis|cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation extracellular space growth factor activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229) TTACCCGTCCGTATTTGCTCA 0.488000 61 56 2.05175e-36 2.87534e-36 1 1 0 FBXL18 80028 broad.mit.edu 37 7 5521544 5521544 + Silent SNP G G A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr7:5521544G>A ENST00000382368.3 - 5 2142 c.2019C>T c.(2017-2019)ccC>ccT p.P673P NM_024963.4 NP_079239.3 Q96ME1 FXL18_HUMAN F-box and leucine-rich repeat protein 18 0 FBXL18/RNF216(2) central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3) 21 Ovarian(82;0.0607) UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13) CGTTTAACGCGGGCCGCTCGG 0.632000 41 76 0 0 1 0 0 GFPT1 2673 broad.mit.edu 37 2 69597229 69597229 + Missense_Mutation SNP C C T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr2:69597229C>T ENST00000357308.4 - 3 305 c.127G>A c.(127-129)Gat>Aat p.D43N GFPT1_ENST00000361060.4_Missense_Mutation_p.D43N|GFPT1_ENST00000494201.1_5'UTR NM_001244710.1 NP_001231639.1 Q06210 GFPT1_HUMAN glutamine--fructose-6-phosphate transaminase 1 43 Glutamine amidotransferase type-2. D -> V (in LGMTA). dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding endometrium(1)|large_intestine(3)|lung(5)|skin(3) 12 TTGCCTCCATCAAATCCCACA 0.328000 66 69 0 0 1 0 0 ARID4A 5926 broad.mit.edu 37 14 58785450 58785450 + Missense_Mutation SNP A A T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr14:58785450A>T ENST00000355431.3 + 7 749 c.376A>T c.(376-378)Aca>Tca p.T126S ARID4A_ENST00000348476.3_Missense_Mutation_p.T126S|ARID4A_ENST00000395168.3_Missense_Mutation_p.T126S|ARID4A_ENST00000431317.2_Missense_Mutation_p.T126S NM_002892.3 NP_002883.3 P29374 ARI4A_HUMAN AT rich interactive domain 4A (RBP1-like) 126 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter transcriptional repressor complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 GCTTCCATTAACAAATCCAGA 0.363000 43 18 0 0 1 0 0 CHRM2 1129 broad.mit.edu 37 7 136700111 136700111 + Missense_Mutation SNP G G T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr7:136700111G>T ENST00000445907.2 + 3 1027 c.499G>T c.(499-501)Ggg>Tgg p.G167W CHRM2_ENST00000402486.3_Missense_Mutation_p.G167W|AC009264.1_ENST00000439694.1_RNA|AC009264.1_ENST00000425981.2_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.G167W|CHRM2_ENST00000453373.1_Missense_Mutation_p.G167W|AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000593789.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.G167W|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000598184.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.G167W|AC009264.1_ENST00000586239.1_RNA NM_001006627.1|NM_001006629.1 NP_001006628.1|NP_001006630.1 P08172 ACM2_HUMAN cholinergic receptor, muscarinic 2 167 activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 68 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) GTTCATTGTAGGGGTGAGAAC 0.498000 52 107 2.73361e-28 3.6756e-28 1 1 0 HNRNPLL 92906 broad.mit.edu 37 2 38812888 38812888 + Silent SNP A A G TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr2:38812888A>G ENST00000449105.2 - 3 783 c.444T>C c.(442-444)tcT>tcC p.S148S HNRNPLL_ENST00000410076.1_Silent_p.S143S|HNRNPLL_ENST00000358367.4_Silent_p.S148S|HNRNPLL_ENST00000409636.1_Silent_p.S143S|HNRNPLL_ENST00000409328.1_Silent_p.S148S|HNRNPLL_ENST00000378915.3_Silent_p.S148S NM_138394.3 NP_612403.2 heterogeneous nuclear ribonucleoprotein L-like TTTTGCTTGTAGAATAGTTGA 0.408000 56 70 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132505712 132505712 + Silent SNP G G T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr12:132505712G>T ENST00000333577.4 + 24 4753 c.4644G>T c.(4642-4644)ccG>ccT p.P1548P EP400_ENST00000332482.4_Silent_p.P1475P|EP400_ENST00000389562.2_Silent_p.P1511P|EP400_ENST00000330386.6_Intron|EP400_ENST00000389561.2_Silent_p.P1512P Q96L91 EP400_HUMAN E1A binding protein p400 1548 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) CCGCTAGCCCGGCCCATCCTG 0.716000 21 59 1.88708e-17 2.31808e-17 1 1 0 IL7R 3575 broad.mit.edu 37 5 35876369 35876369 + Silent SNP C C T rs139678300 TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr5:35876369C>T ENST00000303115.3 + 8 1290 c.1161C>T c.(1159-1161)tcC>tcT p.S387S IL7R_ENST00000343305.4_3'UTR NM_002185.3 NP_002176.2 P16871 IL7RA_HUMAN interleukin 7 receptor 387 immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3) 126 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) CTTCCAGGTCCCTAGACTGCA 0.537000 """Mis, O""" """ALL, ETP ALL""" Severe combined immune deficiency 36 53 0 0 1 0 0 SLC6A2 6530 broad.mit.edu 37 16 55732407 55732407 + Silent SNP G G T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr16:55732407G>T ENST00000379906.2 + 10 1671 c.1416G>T c.(1414-1416)ctG>ctT p.L472L SLC6A2_ENST00000561820.1_Silent_p.L472L|SLC6A2_ENST00000414754.3_Silent_p.L472L|SLC6A2_ENST00000219833.8_Silent_p.L472L|SLC6A2_ENST00000567238.1_Silent_p.L367L|SLC6A2_ENST00000568943.1_Silent_p.L472L|SLC6A2_ENST00000566163.1_Silent_p.L427L NM_001043.3 NP_001034.1 P23975 SC6A2_HUMAN solute carrier family 6 (neurotransmitter transporter), member 2 472 synaptic transmission integral to plasma membrane|membrane fraction norepinephrine:sodium symporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267) Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285) TGACCCTCCTGGACACCTTTG 0.512000 17 48 1.37657e-19 1.72287e-19 1 1 0 TET3 200424 broad.mit.edu 37 2 74274030 74274030 + Missense_Mutation SNP C C G TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr2:74274030C>G ENST00000409262.3 + 1 581 c.581C>G c.(580-582)cCc>cGc p.P194R NM_144993.1 NP_659430.1 O43151 TET3_HUMAN tet methylcytosine dioxygenase 3 194 metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 TCAGAGGTGCCCCAGATCTCT 0.647000 24 19 0 0 1 0 0 CSAD 51380 broad.mit.edu 37 12 53566378 53566378 + Missense_Mutation SNP G G A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr12:53566378G>A ENST00000267085.4 - 5 495 c.262C>T c.(262-264)Cgg>Tgg p.R88W CSAD_ENST00000491654.1_5'UTR|CSAD_ENST00000444623.1_Missense_Mutation_p.R61W|CSAD_ENST00000379846.1_Intron|CSAD_ENST00000379843.3_Intron|CSAD_ENST00000542115.1_Missense_Mutation_p.R61W|CSAD_ENST00000453446.2_Missense_Mutation_p.R61W NM_001244706.1|NM_015989.4 NP_001231635.1|NP_057073.4 Q9Y600 CSAD_HUMAN cysteine sulfinic acid decarboxylase 61 carboxylic acid metabolic process pyridoxal phosphate binding|sulfinoalanine decarboxylase activity kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4) 14 L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114) CCCTGGCTCCGCAGCTCCAAA 0.617000 3 10 0 0 1 0 0 ABCA5 23461 broad.mit.edu 37 17 67257396 67257396 + Missense_Mutation SNP G G A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr17:67257396G>A ENST00000392676.3 - 26 3498 c.3434C>T c.(3433-3435)gCg>gTg p.A1145V ABCA5_ENST00000392677.2_Missense_Mutation_p.A1146V|ABCA5_ENST00000588877.1_Missense_Mutation_p.A1145V Q8WWZ7 ABCA5_HUMAN ATP-binding cassette, sub-family A (ABC1), member 5 1145 cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane ATP binding|ATPase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 54 Breast(10;3.72e-11) ACAAGCCAACGCTGCCTAAAG 0.299000 33 35 0 0 1 0 0 LARP1B 55132 broad.mit.edu 37 4 129012520 129012520 + Missense_Mutation SNP A A G TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr4:129012520A>G ENST00000326639.6 + 7 732 c.521A>G c.(520-522)tAt>tGt p.Y174C LARP1B_ENST00000354456.3_5'UTR|LARP1B_ENST00000264584.5_Missense_Mutation_p.Y127C|LARP1B_ENST00000394288.3_Missense_Mutation_p.Y174C|LARP1B_ENST00000512292.1_Missense_Mutation_p.Y174C|LARP1B_ENST00000432347.2_Missense_Mutation_p.Y174C|LARP1B_ENST00000427266.1_Missense_Mutation_p.Y174C|LARP1B_ENST00000441387.1_Missense_Mutation_p.Y174C NM_018078.2 NP_060548.2 Q659C4 LAR1B_HUMAN La ribonucleoprotein domain family, member 1B 174 RNA binding endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3) 34 GATTATTCATATGGTTATCAA 0.318000 23 31 0 0 1 0 0 TSHR 7253 broad.mit.edu 37 14 81609871 81609871 + Missense_Mutation SNP C C A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr14:81609871C>A ENST00000541158.2 + 11 1791 c.1469C>A c.(1468-1470)aCa>aAa p.T490K TSHR_ENST00000298171.2_Missense_Mutation_p.T490K|RP11-114N19.3_ENST00000557775.1_RNA P16473 TSHR_HUMAN thyroid stimulating hormone receptor 490 cell-cell signaling|positive regulation of cell proliferation integral to plasma membrane protein binding|thyroid-stimulating hormone receptor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1) 337 BRCA - Breast invasive adenocarcinoma(234;0.0402) Thyrotropin Alfa(DB00024) GACTGGCAGACAGGCCCTGGG 0.547000 Mis toxic thyroid adenoma thyroid adenoma Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism 24 9 2.3814e-25 3.16989e-25 1 1 0 CTBP1 1487 broad.mit.edu 37 4 1232119 1232119 + Missense_Mutation SNP C C A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr4:1232119C>A ENST00000510568.1 - 2 605 c.14G>T c.(13-15)cGa>cTa p.R5L CTBP1_ENST00000382952.3_Missense_Mutation_p.R5L|CTBP1_ENST00000515690.1_5'UTR|CTBP1_ENST00000290921.6_Missense_Mutation_p.R16L Q13363 CTBP1_HUMAN C-terminal binding protein 1 16 Interaction with GLIS2 1 (By similarity). interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation cytoplasm|transcriptional repressor complex NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1) 8 OV - Ovarian serous cystadenocarcinoma(23;0.00818) Colorectal(103;0.2) GATCGGAGGTCGGACGCCTGC 0.672000 34 63 1.59361e-14 1.88767e-14 1 1 0 MPLKIP 136647 broad.mit.edu 37 7 40172830 40172830 + Missense_Mutation SNP C C T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr7:40172830C>T ENST00000306984.5 - 2 459 c.368G>A c.(367-369)gGa>gAa p.G123E NM_138701.3 NP_619646.1 Q8TAP9 TTDN1_HUMAN M-phase specific PLK1 interacting protein 123 cell division|mitosis microtubule organizing center|nucleus ACGCCCTGATCCAAATGGTGT 0.358000 35 78 0 0 1 0 0 POTEF 728378 broad.mit.edu 37 2 130833055 130833055 + Missense_Mutation SNP T T G TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr2:130833055T>G ENST00000357462.5 - 15 2083 c.1990A>C c.(1990-1992)Aca>Cca p.T664P POTEF_ENST00000409914.2_Missense_Mutation_p.T664P|POTEF_ENST00000360967.5_3'UTR|POTEF_ENST00000361163.4_3'UTR A5A3E0 POTEF_HUMAN POTE ankyrin domain family, member F 664 cell cortex ATP binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 53 TGTTTCATTGTGTCTAGCTCC 0.343000 5 19 0 0 1 0 0 MYT1L 23040 broad.mit.edu 37 2 1926429 1926429 + Missense_Mutation SNP G G T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr2:1926429G>T ENST00000399161.2 - 10 1859 c.1112C>A c.(1111-1113)aCg>aAg p.T371K MYT1L_ENST00000428368.2_Missense_Mutation_p.T371K NM_015025.2 NP_055840.2 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 371 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) TCTGTCCGGCGTCCTTCCGGG 0.602000 13 12 4.93089e-13 5.68839e-13 1 1 0 MGA 23269 broad.mit.edu 37 15 41988653 41988653 + Missense_Mutation SNP A A G TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr15:41988653A>G ENST00000219905.7 + 3 1626 c.1445A>G c.(1444-1446)aAg>aGg p.K482R MGA_ENST00000545763.1_Missense_Mutation_p.K482R|MGA_ENST00000566586.1_Missense_Mutation_p.K482R|MGA_ENST00000570161.1_Missense_Mutation_p.K482R|MGA_ENST00000389936.4_Missense_Mutation_p.K482R|MGA_ENST00000568630.1_3'UTR NM_001164273.1 NP_001157745.1 Q8IWI9 MGAP_HUMAN MGA, MAX dimerization protein 482 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) AGCACAGTTAAGATTTCTGAA 0.408000 31 51 0 0 1 0 0 LRRIQ3 127255 broad.mit.edu 37 1 74575212 74575212 + Frame_Shift_Del DEL G G - TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr1:74575212delG ENST00000354431.4 - 5 924 c.733delC c.(733-735)agfs p.Q246fs LRRIQ3_ENST00000468759.1_5'UTR|LRRIQ3_ENST00000395089.1_Frame_Shift_Del_p.Q246fs|LRRIQ3_ENST00000370909.2_Frame_Shift_Del_p.Q138fs NM_001105659.1 NP_001099129.1 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 246 QQEKII -> TAGKNY (in Ref. 1; BAD18621). NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5) 73 TTTTCCTGCTGTTTTTTTTTG 0.323 9 51 --- --- --- --- SPAG17 200162 broad.mit.edu 37 1 118582041 118582041 + Frame_Shift_Del DEL C C - TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr1:118582041delC ENST00000336338.5 - 23 3258 c.3193delG c.(3193-3195)tafs p.V1065fs NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1065 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) TTGTCCTTTACCACTCTCACT 0.388 11 46 --- --- --- --- FLG2 388698 broad.mit.edu 37 1 152324558 152324559 + Frame_Shift_Del DEL TG TG - rs140875805 byFrequency TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr1:152324558_152324559delTG ENST00000388718.5 - 3 5775_5776 c.5703_5704delCA c.(5701-5706)cagcfs p.HS1901fs FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 1901 calcium ion binding|structural molecule activity p.H1901fs*30(1) NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGGCTTGGCTGTGTGTGTGTC 0.515 7 553 --- --- --- --- LMNA 4000 broad.mit.edu 37 1 156106935 156106936 + Frame_Shift_Ins INS - - C rs58013325 TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr1:156106935_156106936insC ENST00000368300.4 + 9 1732_1733 c.1520_1521insC c.(1519-1521)accfs p.T507fs LMNA_ENST00000448611.2_Frame_Shift_Ins_p.T395fs|LMNA_ENST00000473598.2_Frame_Shift_Ins_p.T408fs|LMNA_ENST00000392353.3_Frame_Shift_Ins_p.T426fs|LMNA_ENST00000368297.1_Frame_Shift_Ins_p.T426fs|LMNA_ENST00000368299.3_Frame_Shift_Ins_p.T507fs|LMNA_ENST00000368301.2_Frame_Shift_Ins_p.T507fs|LMNA_ENST00000361308.4_Frame_Shift_Ins_p.T507fs|LMNA_ENST00000347559.2_Frame_Shift_Ins_p.T507fs|LMNA_ENST00000496738.1_3'UTR NM_170707.3 NP_733821.1 P02545 LMNA_HUMAN lamin A/C 507 Tail. cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm protein binding|structural molecule activity NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4) 10 Hepatocellular(266;0.158) GCCACCCACAGCCCCCCTACCG 0.634 Werner syndrome;Hutchinson-Gilford Progeria Syndrome 21 26 --- --- --- --- TPO 7173 broad.mit.edu 37 2 1457501 1457501 + Frame_Shift_Del DEL T T - TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr2:1457501delT ENST00000345913.4 + 6 609 c.518delT c.(517-519)cgfs p.L173fs TPO_ENST00000382198.1_Frame_Shift_Del_p.L173fs|TPO_ENST00000349624.3_Frame_Shift_Del_p.L173fs|TPO_ENST00000382201.3_Frame_Shift_Del_p.L173fs|TPO_ENST00000497517.2_Intron|TPO_ENST00000346956.3_Frame_Shift_Del_p.L173fs|TPO_ENST00000337415.3_Frame_Shift_Del_p.L173fs|TPO_ENST00000329066.4_Frame_Shift_Del_p.L173fs NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase 173 cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) AACACGGCCCTGGCACGATGG 0.602 71 130 --- --- --- --- XIRP2 129446 broad.mit.edu 37 2 168105918 168105918 + Frame_Shift_Del DEL T T - TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr2:168105918delT ENST00000409195.1 + 9 8105 c.8016delT c.(8014-8016)gcfs p.A2672fs XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Frame_Shift_Del_p.A2450fs|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Frame_Shift_Del_p.A2672fs NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 2497 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 CCAAATCAGCTTGCGAAATTA 0.403 14 63 --- --- --- --- PRRT3 285368 broad.mit.edu 37 3 9991858 9991859 + Splice_Site INS - - A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr3:9991858_9991859insA ENST00000412055.1 - 2 73 c.e2-2 PRRT3-AS1_ENST00000431558.1_RNA|PRRT3_ENST00000411976.2_Splice_Site NM_207351.3 NP_997234.3 Q5FWE3 PRRT3_HUMAN proline-rich transmembrane protein 3 integral to membrane NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2) 13 TGGATGAGCCTAAAAAAAAAAC 0.574 3 3 --- --- --- --- ALCAM 214 broad.mit.edu 37 3 105269071 105269071 + Frame_Shift_Del DEL A A - TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr3:105269071delA ENST00000306107.5 + 12 1975 c.1475delA c.(1474-1476)ggfs p.E492fs ALCAM_ENST00000486979.2_Frame_Shift_Del_p.E441fs|ALCAM_ENST00000389927.4_Frame_Shift_Del_p.E214fs|ALCAM_ENST00000472644.2_Frame_Shift_Del_p.E492fs NM_001627.3 NP_001618.2 Q13740 CD166_HUMAN activated leukocyte cell adhesion molecule 492 Ig-like C2-type 3. cell adhesion|signal transduction integral to membrane receptor binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 28 AACCAACTGGAGAGAACAGTA 0.318 43 28 --- --- --- --- MYO10 4651 broad.mit.edu 37 5 16694605 16694606 + Frame_Shift_Ins INS - - C TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr5:16694605_16694606insC ENST00000513610.1 - 27 4128_4129 c.3674_3675insG c.(3673-3675)gtcfs p.V1225fs MYO10_ENST00000515803.1_Frame_Shift_Ins_p.V564fs|MYO10_ENST00000274203.9_Frame_Shift_Ins_p.V582fs|MYO10_ENST00000505695.1_Frame_Shift_Ins_p.V564fs|MYO10_ENST00000427430.2_Frame_Shift_Ins_p.V582fs NM_012334.2 NP_036466.2 Q9HD67 MYO10_HUMAN myosin X 1225 PH 1. axon guidance|signal transduction myosin complex actin binding|ATP binding|motor activity p.S1226fs*25(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 86 GCGTGGAGGAGCCCCCCCCTTT 0.564 7 182 --- --- --- --- FYB 2533 broad.mit.edu 37 5 39119140 39119141 + Splice_Site INS - - A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr5:39119140_39119141insA ENST00000351578.6 - 15 2291 c.e15-2 FYB_ENST00000505428.1_Splice_Site|FYB_ENST00000540520.1_Splice_Site|FYB_ENST00000512982.1_Splice_Site|FYB_ENST00000515010.1_Splice_Site NM_199335.3 NP_955367.1 O15117 FYB_HUMAN FYN binding protein cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway cytosol|nucleus protein binding endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1) 45 all_lung(31;0.000343) Epithelial(62;0.235) ACCATCATACTAAAAAAAAAAG 0.272 3 5 --- --- --- --- CCDC129 223075 broad.mit.edu 37 7 31617539 31617539 + Frame_Shift_Del DEL G G - TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr7:31617539delG ENST00000319386.3 + 8 1654 c.661delG c.(661-663)atfs p.D221fs CCDC129_ENST00000409210.1_Frame_Shift_Del_p.D129fs|CCDC129_ENST00000407970.3_Frame_Shift_Del_p.D221fs|CCDC129_ENST00000451887.2_Frame_Shift_Del_p.D247fs Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 221 cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31) 44 TCTGCTGAGTGATGTCAGCAT 0.498 21 30 --- --- --- --- PAXIP1 22976 broad.mit.edu 37 7 154782739 154782740 + Frame_Shift_Ins INS - - A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr7:154782739_154782740insA ENST00000404141.1 - 4 454_455 c.300_301insT c.(298-303)ttgaatfs p.LN100fs PAXIP1_ENST00000397192.1_Frame_Shift_Ins_p.LN100fs|PAXIP1_ENST00000473219.1_5'UTR Q6ZW49 PAXI1_HUMAN PAX interacting (with transcription-activation domain) protein 1 100 BRCT 2.|Interaction with PA1 (By similarity). DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent histone methyltransferase complex|nuclear matrix NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 33 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.0296) UCEC - Uterine corpus endometrioid carcinoma (81;0.178) GCAGTGATTCCAAAAAAAATCT 0.332 4 9 --- --- --- --- FAM66D 100132923 broad.mit.edu 37 8 11994626 11994627 + RNA DEL GT GT - rs138516564 by1000genomes TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr8:11994626_11994627delGT ENST00000434078.2 + 0 608 NR_027425.1 gtatttgtgcgtgtgtgtgtgt 0.510 12 169 --- --- --- --- IGFBP6 3489 broad.mit.edu 37 12 53491528 53491530 + In_Frame_Del DEL GCT GCT - TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr12:53491528_53491530delGCT ENST00000548547.1 + 1 309_311 c.27_29delGCT c.(25-30)ccg>cc p.PL9del IGFBP6_ENST00000301464.3_In_Frame_Del_p.PL9del P24592 IBP6_HUMAN insulin-like growth factor binding protein 6 9 negative regulation of cell proliferation|regulation of cell growth|signal transduction large_intestine(1)|lung(3)|ovary(1)|pancreas(1) 6 tgctgccaccgctgctgctgctg 0.719 2 4 --- --- --- --- FANCM 57697 broad.mit.edu 37 14 45642288 45642289 + Frame_Shift_Del DEL CT CT - TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr14:45642288_45642289delCT ENST00000267430.5 + 13 2276_2277 c.2191_2192delCT c.(2191-2193)cfs p.L731fs FANCM_ENST00000542564.2_Frame_Shift_Del_p.L705fs NM_020937.2 NP_065988.1 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 731 DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 85 AATTCATCAACTCTCTCTCTCT 0.347 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 9 247 --- --- --- --- MGAT2 4247 broad.mit.edu 37 14 50088928 50088929 + Frame_Shift_Del DEL CA CA - TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr14:50088928_50088929delCA ENST00000305386.2 + 1 1440_1441 c.942_943delCA c.(940-945)tccafs p.ST314fs RP11-649E7.5_ENST00000555043.1_RNA NM_002408.3 NP_002399.1 Q10469 MGAT2_HUMAN mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase 314 oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|Golgi stack|integral to membrane|membrane fraction alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity cervix(1)|endometrium(3)|large_intestine(1)|lung(6) 11 all_epithelial(31;0.0021)|Breast(41;0.0124) CTTGGAAATCCACAGAGCACAA 0.470 12 596 --- --- --- --- ADAL 161823 broad.mit.edu 37 15 43641114 43641115 + Frame_Shift_Ins INS - - A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr15:43641114_43641115insA ENST00000422466.2 + 11 1217_1218 c.643_644insA c.(643-645)aaafs p.K215fs ADAL_ENST00000562188.1_Frame_Shift_Ins_p.K215fs|ADAL_ENST00000389651.4_Frame_Shift_Ins_p.K215fs|ADAL_ENST00000428046.3_Frame_Shift_Ins_p.K188fs Q6DHV7 ADAL_HUMAN adenosine deaminase-like 215 adenosine catabolic process|inosine biosynthetic process|purine ribonucleoside monophosphate biosynthetic process adenosine deaminase activity|metal ion binding endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1) 7 all_cancers(109;7.96e-11)|all_epithelial(112;2.96e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;9.31e-07) GATTCCAAACCAAAAAAAAGAA 0.455 19 44 --- --- --- --- ALDH3A2 224 broad.mit.edu 37 17 19566719 19566724 + In_Frame_Del DEL AATAGT AATAGT - TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr17:19566719_19566724delAATAGT ENST00000176643.6 + 7 1460_1465 c.1014_1019delAATAGT c.(1012-1020)ccg>cc p.PIV338del ALDH3A2_ENST00000579855.1_In_Frame_Del_p.PIV338del|ALDH3A2_ENST00000395575.2_In_Frame_Del_p.PIV338del|ALDH3A2_ENST00000571163.1_In_Frame_Del_p.PIV11del|ALDH3A2_ENST00000339618.4_In_Frame_Del_p.PIV338del|ALDH3A2_ENST00000581518.1_In_Frame_Del_p.PIV338del P51648 AL3A2_HUMAN aldehyde dehydrogenase 3 family, member A2 338 cellular aldehyde metabolic process|central nervous system development|epidermis development|lipid metabolic process|peripheral nervous system development endoplasmic reticulum membrane|integral to membrane 3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(2)|prostate(1) 13 all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245) NADH(DB00157) CAATTCTTCCAATAGTGCCTGTGAAA 0.345 25 18 --- --- --- --- FTSJ3 117246 broad.mit.edu 37 17 61901501 61901503 + In_Frame_Del DEL TCC TCC - TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr17:61901501_61901503delTCC ENST00000427159.2 - 12 1740_1742 c.1095_1097delGGA c.(1093-1098)gaa>ga p.EE365del NM_017647.3 NP_060117.3 Q8IY81 RRMJ3_HUMAN FtsJ homolog 3 (E. coli) 365 RNA methylation|rRNA processing nucleolus methyltransferase activity|nucleic acid binding breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 27 GTTCAGTTGTtcctcctcctcct 0.562 7 287 --- --- --- --- COL5A3 50509 broad.mit.edu 37 19 10078061 10078061 + Frame_Shift_Del DEL G G - TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr19:10078061delG ENST00000264828.3 - 62 4505 c.4420delC c.(4420-4422)gtfs p.R1474fs NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 1474 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) GTGTCTCCACGGGGGCCCATG 0.602 2 4 --- --- --- --- PKDREJ 10343 broad.mit.edu 37 22 46653646 46653648 + In_Frame_Del DEL ATA ATA - TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chr22:46653646_46653648delATA ENST00000253255.5 - 1 5571_5573 c.5572_5574delTAT c.(5572-5574)del p.Y1858del NM_006071.1 NP_006062.1 Q9NTG1 PKDRE_HUMAN polycystin (PKD) family receptor for egg jelly 1858 acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) CTTGAGGCTTATAAGTAAATCCA 0.404 121 24 --- --- --- --- TXLNGY 246126 broad.mit.edu 37 Y 21758004 21758005 + RNA DEL AG AG - TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0425ea-647a-4a13-a8ac-d1c009c8e071 707309c6-f162-4cf1-95e6-bf86061997d4 g.chrY:21758004_21758005delAG ENST00000253320.4 + 0 3085_3086 Q9BZA5 CY15A_HUMAN haematopoietic_and_lymphoid_tissue(1) 1 GAAAGACATCAGAGAGAGAGAG 0.347 3 5 --- --- --- ---