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 AQP11 282679 broad.mit.edu 37 11 77301521 77301521 + Missense_Mutation SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr11:77301521G>A ENST00000313578.3 + 1 842 c.484G>A c.(484-486)Gac>Aac p.D162N AQP11_ENST00000528638.1_Intron NM_173039.2 NP_766627.1 Q8NBQ7 AQP11_HUMAN aquaporin 11 162 cell surface|integral to membrane transporter activity kidney(2)|large_intestine(1)|lung(5) 8 all_cancers(14;1.75e-17)|all_epithelial(13;4.7e-20)|Ovarian(111;0.249) Epithelial(5;4.73e-49)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30) CATCCGAGTCGACTTGCTCAA 0.567000 35 76 0 0 1 0 0 STX4 6810 broad.mit.edu 37 16 31051055 31051055 + Missense_Mutation SNP G G C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr16:31051055G>C ENST00000394998.1 + 11 1162 c.819G>C c.(817-819)ttG>ttC p.L273F STX4_ENST00000493902.1_3'UTR|STX4_ENST00000313843.3_Missense_Mutation_p.L275F NM_001272096.1 NP_001259025.1 Q12846 STX4_HUMAN syntaxin 4 275 Interaction with CENPF (By similarity). intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole SNAP receptor activity NS(2)|breast(1)|large_intestine(3)|lung(3) 9 AGAAAGTCTTGATTGCCATCT 0.572000 80 181 0 0 1 0 0 PLEKHA8P1 51054 broad.mit.edu 37 12 45567959 45567959 + RNA SNP C C G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr12:45567959C>G ENST00000256692.5 - 0 726 NR_037144.1 breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 TAGAGCAGCTCAGAGGTGAAG 0.443000 50 154 0 0 1 0 0 UPRT 139596 broad.mit.edu 37 X 74494400 74494400 + Missense_Mutation SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chrX:74494400G>A ENST00000373379.1 + 1 476 c.311G>A c.(310-312)cGg>cAg p.R104Q UPRT_ENST00000531704.1_3'UTR|UPRT_ENST00000373383.4_Missense_Mutation_p.R104Q Q96BW1 UPP_HUMAN uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae) 104 nucleoside metabolic process cytoplasm|nucleus breast(1)|endometrium(7)|kidney(2)|large_intestine(4)|lung(4) 18 GAACTCTCCCGGCAGATCGGG 0.562000 4 7 0 0 1 0 0 DDX42 11325 broad.mit.edu 37 17 61869830 61869830 + Missense_Mutation SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr17:61869830G>A ENST00000578681.1 + 4 881 c.280G>A c.(280-282)Gaa>Aaa p.E94K DDX42_ENST00000389924.2_Missense_Mutation_p.E94K|DDX42_ENST00000583590.1_Missense_Mutation_p.E94K|DDX42_ENST00000359353.5_5'UTR|DDX42_ENST00000457800.2_Missense_Mutation_p.E94K NM_007372.2 NP_031398.2 Q86XP3 DDX42_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 42 94 protein localization|regulation of anti-apoptosis Cajal body|cytoplasm|nuclear speck ATP binding|ATP-dependent helicase activity|protein binding|RNA binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3) 46 CATTCCTGCTGAAAACTCACC 0.418000 48 68 0 0 1 0 0 BLK 640 broad.mit.edu 37 8 11405588 11405588 + Silent SNP C C A rs149393791 byFrequency TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr8:11405588C>A ENST00000259089.4 + 4 815 c.223C>A c.(223-225)Cgg>Agg p.R75R BLK_ENST00000529894.1_Silent_p.R4R NM_001715.2 NP_001706.2 P51451 BLK_HUMAN B lymphoid tyrosine kinase 75 SH3. intracellular protein kinase cascade|positive regulation of insulin secretion ATP binding|non-membrane spanning protein tyrosine kinase activity endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1) 27 STAD - Stomach adenocarcinoma(15;0.00391) COAD - Colon adenocarcinoma(149;0.207) TATGAATGATCGGGACCTGCA 0.567000 21 33 5.26018e-13 5.62649e-13 1 1 0 MYH3 4621 broad.mit.edu 37 17 10542949 10542949 + Silent SNP G G C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr17:10542949G>C ENST00000583535.1 - 23 2940 c.2853C>G c.(2851-2853)ctC>ctG p.L951L MYH3_ENST00000226209.7_Silent_p.L951L NM_002470.3 NP_002461.2 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, embryonic 951 muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 83 TGTCTTTCTTGAGCTCTGAGC 0.478000 117 297 0 0 1 0 0 IMPDH1 3614 broad.mit.edu 37 7 128038653 128038653 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr7:128038653C>T ENST00000338791.6 - 10 1239 c.889G>A c.(889-891)Gtc>Atc p.V297I IMPDH1_ENST00000354269.5_Missense_Mutation_p.V287I|IMPDH1_ENST00000343214.4_Missense_Mutation_p.V187I|IMPDH1_ENST00000496200.1_Missense_Mutation_p.V187I|IMPDH1_ENST00000480861.1_Missense_Mutation_p.V207I|IMPDH1_ENST00000348127.6_Missense_Mutation_p.V261I|IMPDH1_ENST00000470772.1_Missense_Mutation_p.V211I|IMPDH1_ENST00000419067.2_Missense_Mutation_p.V264I|IMPDH1_ENST00000378717.4_Missense_Mutation_p.V228I NM_000883.3 NP_000874.2 P20839 IMDH1_HUMAN IMP (inosine 5'-monophosphate) dehydrogenase 1 212 GMP biosynthetic process|purine base metabolic process cytosol|nucleus DNA binding|IMP dehydrogenase activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3) 22 Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352) CAATCATTGACGATAGGCAGC 0.542000 OREG0018292 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 158 0 0 1 0 0 PPIL4 85313 broad.mit.edu 37 6 149867087 149867087 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr6:149867087C>T ENST00000253329.2 - 1 87 c.55G>A c.(55-57)Gaa>Aaa p.E19K NM_139126.3 NP_624311.1 Q8WUA2 PPIL4_HUMAN peptidylprolyl isomerase (cyclophilin)-like 4 19 PPIase cyclophilin-type. protein folding nucleus nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|RNA binding endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1) 13 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885) GGCCGTTCTTCGGTGTACAAG 0.647000 5 9 0 0 1 0 0 RNGTT 8732 broad.mit.edu 37 6 89388140 89388140 + Splice_Site SNP T T C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr6:89388140T>C ENST00000369485.4 - 14 1626 c.e14-2 RNGTT_ENST00000369475.3_Splice_Site|RNGTT_ENST00000265607.6_Splice_Site|RNGTT_ENST00000538899.1_Splice_Site NM_003800.3 NP_003791.3 O60942 MCE1_HUMAN RNA guanylyltransferase and 5'-phosphatase interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction nucleoplasm GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 21 all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05) BRCA - Breast invasive adenocarcinoma(108;0.151) GGAAGTAACCTACAAAGAAAA 0.279000 22 31 0 0 1 0 0 SMCHD1 23347 broad.mit.edu 37 18 2732428 2732428 + Missense_Mutation SNP C C G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr18:2732428C>G ENST00000320876.6 + 25 3552 c.3214C>G c.(3214-3216)Caa>Gaa p.Q1072E SMCHD1_ENST00000261598.8_Missense_Mutation_p.Q1072E|RP11-703M24.5_ENST00000583546.1_RNA NM_015295.2 NP_056110.2 A6NHR9 SMHD1_HUMAN structural maintenance of chromosomes flexible hinge domain containing 1 1072 chromosome organization ATP binding NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1) 45 TCTTATTTTTCAAATGTATGA 0.303000 13 36 0 0 1 0 0 MEIS3 56917 broad.mit.edu 37 19 47910626 47910626 + Silent SNP G G T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr19:47910626G>T ENST00000331559.5 - 9 1446 c.1005C>A c.(1003-1005)atC>atA p.I335I MEIS3_ENST00000558555.1_Silent_p.I306I|MEIS3_ENST00000441740.2_Silent_p.I289I|MEIS3_ENST00000560253.1_5'UTR|MEIS3_ENST00000559524.1_Silent_p.I352I|MEIS3_ENST00000561293.1_Silent_p.I352I|MEIS3_ENST00000561096.1_Silent_p.I394I NM_020160.2 NP_064545.1 Q99687 MEIS3_HUMAN Meis homeobox 3 306 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2) 20 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;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223) TGACTTGCAGGATGGTGAGCC 0.716000 59 29 3.95532e-38 4.38972e-38 1 1 0 ULK3 25989 broad.mit.edu 37 15 75134485 75134485 + Silent SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr15:75134485G>A ENST00000440863.2 - 3 386 c.295C>T c.(295-297)Ctg>Ttg p.L99L ULK3_ENST00000569437.1_Silent_p.L99L|ULK3_ENST00000568667.1_Silent_p.L110L NM_001099436.1 NP_001092906 Q6PHR2 ULK3_HUMAN unc-51 like kinase 3 99 Protein kinase. cytoplasm ATP binding|protein serine/threonine kinase activity breast(2) 2 AAGCGAGACAGGTCGCCCCCT 0.547000 5 104 0 0 1 0 0 JARID2 3720 broad.mit.edu 37 6 15452374 15452374 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr6:15452374C>T ENST00000341776.2 + 4 705 c.461C>T c.(460-462)aCa>aTa p.T154I JARID2_ENST00000541660.1_Missense_Mutation_p.T116I|JARID2_ENST00000397311.3_5'UTR NM_004973.3 NP_004964.2 Q92833 JARD2_HUMAN jumonji, AT rich interactive domain 2 154 central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent chromatin binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1) 59 Breast(50;0.0142)|Ovarian(93;0.103) all_hematologic(90;0.00612) AAGCCTAAGACAGAAGATTTT 0.488000 31 74 0 0 1 0 0 SCAF1 58506 broad.mit.edu 37 19 50154733 50154733 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr19:50154733C>T ENST00000360565.3 + 7 1211 c.1087C>T c.(1087-1089)Cgg>Tgg p.R363W NM_021228.2 NP_067051.2 Q9H7N4 SFR19_HUMAN SR-related CTD-associated factor 1 363 mRNA processing|RNA splicing nucleus RNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 20 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204) AGAGGCTTGTCGGGAAGGCAA 0.721000 4 7 0 0 1 0 0 LYST 1130 broad.mit.edu 37 1 235969730 235969730 + Silent SNP G G C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr1:235969730G>C ENST00000389794.3 - 6 2880 c.2706C>G c.(2704-2706)ctC>ctG p.L902L LYST_ENST00000536965.1_Silent_p.L902L|LYST_ENST00000389793.2_Silent_p.L902L Q99698 LYST_HUMAN lysosomal trafficking regulator 902 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) AAGCCACACAGAGGAATAGGT 0.438000 68 187 0 0 1 0 0 NPIPB7 440350 broad.mit.edu 37 16 28468167 28468167 + Missense_Mutation SNP G G T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr16:28468167G>T ENST00000452313.1 - 7 931 c.823C>A c.(823-825)Cca>Aca p.P275T ACTGAGGGTGGAAGGGGAGTG 0.517000 26 77 6.03168e-27 6.61762e-27 1 1 0 CYP39A1 51302 broad.mit.edu 37 6 46620303 46620303 + Missense_Mutation SNP G G T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr6:46620303G>T ENST00000275016.2 - 1 220 c.17C>A c.(16-18)cCa>cAa p.P6Q NM_016593.3 NP_057677.2 Q9NYL5 CP39A_HUMAN cytochrome P450, family 39, subfamily A, polypeptide 1 6 bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process endoplasmic reticulum membrane|microsome 24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity EIF3K/CYP39A1(2) NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2) 21 AATCACTGTTGGGGAAATTAG 0.483000 88 264 5.42381e-49 6.08989e-49 1 1 0 IL23R 149233 broad.mit.edu 37 1 67666436 67666436 + Missense_Mutation SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr1:67666436G>A ENST00000347310.5 + 5 679 c.508G>A c.(508-510)Gag>Aag p.E170K C1orf141_ENST00000371007.2_Intron|IL23R_ENST00000371002.1_Missense_Mutation_p.E170K NM_144701.2 NP_653302.2 Q5VWK5 IL23R_HUMAN interleukin 23 receptor 170 Fibronectin type-III 1. inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide interleukin-23 receptor complex receptor activity breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 21 GACAGAAGAAGAGCAACAGTA 0.383000 54 29 0 0 1 0 0 P2RX5-TAX1BP3 100533970 broad.mit.edu 37 17 3593444 3593444 + Splice_Site SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr17:3593444C>T ENST00000550383.1 - 6 722 c.534G>A c.(532-534)gaG>gaA p.E178E P2RX5_ENST00000550772.1_5'UTR|P2RX5_ENST00000225328.5_Splice_Site_p.E178E|P2RX5_ENST00000551178.1_Splice_Site_p.E154E|P2RX5_ENST00000435558.1_Splice_Site_p.E178E|P2RX5_ENST00000552276.1_Splice_Site_p.E178E|P2RX5_ENST00000552050.1_Splice_Site_p.E118E|P2RX5_ENST00000547178.1_Splice_Site_p.E178E|P2RX5_ENST00000345901.3_Splice_Site_p.E154E GGAATGGCTCCCTGAAAACCA 0.577000 50 190 0 0 1 0 0 C9orf156 51531 broad.mit.edu 37 9 100667150 100667150 + Missense_Mutation SNP G G C rs34857285 TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr9:100667150G>C ENST00000375119.3 - 5 1267 c.1191C>G c.(1189-1191)ttC>ttG p.F397L NM_016481.3 NP_057565.3 Q9BU70 NAP1_HUMAN chromosome 9 open reading frame 156 397 interspecies interaction between organisms hydrolase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1) 13 Acute lymphoblastic leukemia(62;0.158) CAGTAAAGTAGAAAAGGCGGT 0.527000 72 76 0 0 1 0 0 ZNF534 147658 broad.mit.edu 37 19 52942471 52942471 + Silent SNP C C A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr19:52942471C>A ENST00000332323.6 + 4 1858 c.1797C>A c.(1795-1797)gtC>gtA p.V599V ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000433050.1_Silent_p.V586V|ZNF534_ENST00000432303.2_Intron NM_001143939.1 NP_001137411.1 Q76KX8 ZN534_HUMAN zinc finger protein 534 599 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|lung(1)|prostate(1)|skin(1) 4 GTGGCAAGGTCTTCAGTCGGA 0.433000 5 11 1 1 1 1 0 XIRP2 129446 broad.mit.edu 37 2 168100730 168100730 + Missense_Mutation SNP G G C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr2:168100730G>C ENST00000409195.1 + 9 2917 c.2828G>C c.(2827-2829)gGa>gCa p.G943A XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.G721A|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.G943A NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 768 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 GTTGACAGAGGAGATGTGAAG 0.343000 32 36 0 0 1 0 0 CAMSAP3 57662 broad.mit.edu 37 19 7682676 7682676 + Silent SNP C C G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr19:7682676C>G ENST00000446248.2 + 19 3665 c.3564C>G c.(3562-3564)ctC>ctG p.L1188L CAMSAP3_ENST00000160298.4_Silent_p.L1161L NM_001080429.2 NP_001073898.1 Q9P1Y5 CAMP3_HUMAN calmodulin regulated spectrin-associated protein family, member 3 1161 CKK. epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance cytoplasm|microtubule|zonula adherens microtubule minus-end binding cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2) 19 TCCTGATCCTCTTTCGCGACT 0.637000 19 40 0 0 1 0 0 ARHGAP31 57514 broad.mit.edu 37 3 119134233 119134233 + Missense_Mutation SNP G G C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr3:119134233G>C ENST00000264245.4 + 12 3989 c.3457G>C c.(3457-3459)Gac>Cac p.D1153H NM_020754.2 NP_065805.2 Q2M1Z3 RHG31_HUMAN Rho GTPase activating protein 31 1153 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion|lamellipodium GTPase activator activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 67 CTGTAAAGCAGACCCCTGGAG 0.537000 14 63 0 0 1 0 0 SMAD9 4093 broad.mit.edu 37 13 37439763 37439763 + Nonsense_Mutation SNP G G C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr13:37439763G>C ENST00000379826.4 - 5 1256 c.914C>G c.(913-915)tCa>tGa p.S305* SMAD9_ENST00000350148.5_Nonsense_Mutation_p.S268*|SMAD9_ENST00000399275.2_Nonsense_Mutation_p.S305* NM_001127217.2 NP_001120689.1 O15198 SMAD9_HUMAN SMAD family member 9 305 MH2. BMP signaling pathway|transforming growth factor beta receptor signaling pathway cytosol|transcription factor complex sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8) 18 Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184) all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026) CCTGTTATTTGAAGGGTCGGT 0.453000 23 45 0 0 1 0 0 NKTR 4820 broad.mit.edu 37 3 42679721 42679721 + Missense_Mutation SNP G G C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr3:42679721G>C ENST00000232978.8 + 13 2713 c.2525G>C c.(2524-2526)aGa>aCa p.R842T RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA NM_005385.3 NP_005376.2 P30414 NKTR_HUMAN natural killer-tumor recognition sequence 842 protein folding membrane cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 41 KIRC - Kidney renal clear cell carcinoma(284;0.24) GAAAAAAACAGAGGTGAAGAA 0.413000 14 50 0 0 1 0 0 KARS 3735 broad.mit.edu 37 16 75670391 75670391 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr16:75670391C>T ENST00000319410.5 - 5 648 c.527G>A c.(526-528)cGa>cAa p.R176Q KARS_ENST00000302445.3_Missense_Mutation_p.R148Q|KARS_ENST00000568378.1_Intron NM_001130089.1 NP_001123561.1 Q15046 SYK_HUMAN lysyl-tRNA synthetase 148 interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 18 L-Lysine(DB00123) CCCCTCTCCTCGAAGATCATA 0.453000 38 223 0 0 1 0 0 ZC3H18 124245 broad.mit.edu 37 16 88644047 88644047 + Missense_Mutation SNP G G C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr16:88644047G>C ENST00000301011.5 + 2 716 c.516G>C c.(514-516)caG>caC p.Q172H ZC3H18_ENST00000452588.2_Missense_Mutation_p.Q172H NM_144604.3 NP_653205.3 Q86VM9 ZCH18_HUMAN zinc finger CCCH-type containing 18 172 nucleus nucleic acid binding|zinc ion binding endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 42 BRCA - Breast invasive adenocarcinoma(80;0.0542) CTGGTGTTCAGAGTGTGGGAG 0.557000 7 60 0 0 1 0 0 MYO18A 399687 broad.mit.edu 37 17 27447636 27447636 + Missense_Mutation SNP G G C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr17:27447636G>C ENST00000527372.1 - 7 1906 c.1726C>G c.(1726-1728)Cag>Gag p.Q576E MYO18A_ENST00000531253.1_Missense_Mutation_p.Q576E|MYO18A_ENST00000354329.4_Missense_Mutation_p.Q576E|MYO18A_ENST00000533112.1_Missense_Mutation_p.Q576E NM_078471.3 NP_510880.2 Q92614 MY18A_HUMAN myosin XVIIIA 576 Myosin head-like. anti-apoptosis|DNA metabolic process ER-Golgi intermediate compartment|myosin complex ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2) 36 Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) ACTCTCACCTGAATGGAGGCT 0.562000 16 26 0 0 1 0 0 POLD2 5425 broad.mit.edu 37 7 44156568 44156568 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr7:44156568C>T ENST00000406581.2 - 7 1277 c.628G>A c.(628-630)Gag>Aag p.E210K POLD2_ENST00000223361.3_Missense_Mutation_p.E210K|POLD2_ENST00000452185.1_Missense_Mutation_p.E210K NM_001256879.1 NP_001243808.1 P49005 DPOD2_HUMAN polymerase (DNA directed), delta 2, accessory subunit 210 base-excision repair|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm DNA binding|DNA-directed DNA polymerase activity|protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|urinary_tract(1) 12 AGCAGGCTCTCGCCTCCACCG 0.692000 12 20 0 0 1 0 0 N6AMT2 221143 broad.mit.edu 37 13 21331724 21331724 + Missense_Mutation SNP T T A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr13:21331724T>A ENST00000382758.1 - 2 61 c.14A>T c.(13-15)gAa>gTa p.E5V N6AMT2_ENST00000382754.4_Missense_Mutation_p.E5V|N6AMT2_ENST00000460374.1_5'UTR Q8WVE0 N6MT2_HUMAN N-6 adenine-specific DNA methyltransferase 2 (putative) 5 methyltransferase activity|nucleic acid binding endometrium(1)|large_intestine(3)|lung(3) 7 all_cancers(29;5.91e-19)|all_epithelial(30;1.42e-15)|all_lung(29;5.9e-14)|Lung SC(185;0.0367) all cancers(112;0.000234)|Epithelial(112;0.000471)|OV - Ovarian serous cystadenocarcinoma(117;0.0111)|Lung(94;0.0161)|LUSC - Lung squamous cell carcinoma(192;0.0431) CTCATCATCTTCCAAATCACT 0.403000 11 79 0 0 1 0 0 UBE2B 7320 broad.mit.edu 37 5 133724024 133724024 + Missense_Mutation SNP G G T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr5:133724024G>T ENST00000265339.2 + 5 667 c.250G>T c.(250-252)Gat>Tat p.D84Y UBE2B_ENST00000511807.1_Intron NM_003337.2 NP_003328.1 P63146 UBE2B_HUMAN ubiquitin-conjugating enzyme E2B 84 canonical Wnt receptor signaling pathway|histone H2A ubiquitination|negative regulation of cAMP-mediated signaling|postreplication repair|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein stabilization|response to drug|response to UV cytoplasm|plasma membrane|replication fork ATP binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity kidney(1)|large_intestine(2)|lung(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) AGTGTATGCTGATGGTAGCAT 0.348000 Rad6 pathway 20 44 4.96729e-08 5.18326e-08 1 1 0 GRIK1 2897 broad.mit.edu 37 21 31062135 31062135 + Missense_Mutation SNP C C A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr21:31062135C>A ENST00000399914.1 - 3 978 c.457G>T c.(457-459)Gat>Tat p.D153Y GRIK1_ENST00000399913.1_Missense_Mutation_p.D153Y|GRIK1_ENST00000389125.3_Missense_Mutation_p.D153Y|GRIK1_ENST00000389124.2_Missense_Mutation_p.D153Y|GRIK1_ENST00000399909.1_Missense_Mutation_p.D153Y|GRIK1_ENST00000309434.7_Missense_Mutation_p.D153Y|GRIK1_ENST00000535441.1_Missense_Mutation_p.D153Y|GRIK1_ENST00000327783.4_Missense_Mutation_p.D153Y|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000399907.1_Missense_Mutation_p.D153Y P39086 GRIK1_HUMAN glutamate receptor, ionotropic, kainate 1 153 central nervous system development|synaptic transmission cell junction|postsynaptic membrane kainate selective glutamate receptor activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 45 L-Glutamic Acid(DB00142)|Topiramate(DB00273) GCTGCATAATCTGGGTAAAGG 0.473000 90 140 3.90494e-43 4.35901e-43 1 1 0 TACC1 6867 broad.mit.edu 37 8 38677879 38677879 + Nonsense_Mutation SNP C C T rs149014810 by1000genomes TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr8:38677879C>T ENST00000379931.3 + 3 1496 c.1117C>T c.(1117-1119)Cga>Tga p.R373* TACC1_ENST00000348567.4_Intron|TACC1_ENST00000520615.1_Nonsense_Mutation_p.R178*|TACC1_ENST00000443286.2_Nonsense_Mutation_p.R389*|TACC1_ENST00000518415.1_Nonsense_Mutation_p.R328*|TACC1_ENST00000520973.1_Nonsense_Mutation_p.R178*|TACC1_ENST00000522752.1_Intron|TACC1_ENST00000520340.1_Nonsense_Mutation_p.R337*|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000317827.4_Nonsense_Mutation_p.R373*|TACC1_ENST00000519416.1_Nonsense_Mutation_p.R178*|TACC1_ENST00000330691.6_Intron O75410 TACC1_HUMAN transforming, acidic coiled-coil containing protein 1 373 Interaction with YEATS4.|SPAZ 2. cell cycle|cell division intermediate filament cytoskeleton|microtubule organizing center|nucleus protein binding breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3) 17 all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065) LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235) CCCAGTGGCACGAGACGGGCC 0.527000 32 205 0 0 1 0 0 LSP1 4046 broad.mit.edu 37 11 1905742 1905742 + Missense_Mutation SNP G G C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr11:1905742G>C ENST00000406638.2 + 7 1764 c.462G>C c.(460-462)aaG>aaC p.K154N LSP1_ENST00000381775.1_Missense_Mutation_p.K344N|LSP1_ENST00000485341.1_3'UTR|LSP1_ENST00000405957.2_Missense_Mutation_p.K154N|LSP1_ENST00000311604.3_Missense_Mutation_p.K216N NM_001013254.1|NM_001013255.1 NP_001013272.1|NP_001013273.1 P33241 LSP1_HUMAN lymphocyte-specific protein 1 216 cellular component movement|cellular defense response actin cytoskeleton|Golgi apparatus|plasma membrane actin binding|signal transducer activity haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1) 16 all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856) ACAGTGTGAAGAAATCCCAGC 0.572000 14 43 0 0 1 0 0 BAZ1B 9031 broad.mit.edu 37 7 72892759 72892759 + Silent SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr7:72892759C>T ENST00000339594.4 - 7 1370 c.1032G>A c.(1030-1032)aaG>aaA p.K344K BAZ1B_ENST00000404251.1_Silent_p.K344K NM_032408.3 NP_115784.1 Q9UIG0 BAZ1B_HUMAN bromodomain adjacent to zinc finger domain, 1B 344 Lys-rich.|Mediates the tyrosine-protein kinase activity. ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent WINAC complex ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Lung NSC(55;0.0659)|all_lung(88;0.152) CACTCAATGACTTCTTCAAGT 0.423000 30 78 0 0 1 0 0 RUNX1 861 broad.mit.edu 37 21 36206817 36206817 + Missense_Mutation SNP C C A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr21:36206817C>A ENST00000344691.4 - 4 2191 c.614G>T c.(613-615)cGg>cTg p.R205L RUNX1_ENST00000399240.1_Intron|RUNX1_ENST00000358356.5_Missense_Mutation_p.R205L|RUNX1_ENST00000300305.3_Missense_Mutation_p.R232L|RUNX1_ENST00000325074.5_Missense_Mutation_p.R220L|RUNX1_ENST00000437180.1_Missense_Mutation_p.R232L NM_001001890.2 NP_001001890.1 Q01196 RUNX1_HUMAN runt-related transcription factor 1 205 Pro/Ser/Thr-rich. myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent nucleus ATP binding|calcium ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding p.R232L(1) breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 452 GGCTGTGCGCCGCAGCTGCTC 0.612000 T """RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4""" """AML, preB- ALL, T-ALL""" 59 45 7.73544e-29 8.51121e-29 1 1 0 MLLT10 8028 broad.mit.edu 37 10 21962602 21962602 + Missense_Mutation SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr10:21962602G>A ENST00000377072.3 + 11 1723 c.1375G>A c.(1375-1377)Gaa>Aaa p.E459K MLLT10_ENST00000377059.3_Missense_Mutation_p.E459K|MLLT10_ENST00000446906.2_Missense_Mutation_p.E459K|MLLT10_ENST00000307729.7_Missense_Mutation_p.E459K NM_004641.3 NP_004632.1 P55197 AF10_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 459 DNA-binding. positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 TTCTGGCATAGAAGAAGAAAC 0.398000 T """MLL, PICALM, CDK6""" AL 86 200 0 0 1 0 0 POC5 134359 broad.mit.edu 37 5 74970365 74970365 + Silent SNP C C A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr5:74970365C>A ENST00000428202.2 - 12 1812 c.1623G>T c.(1621-1623)cgG>cgT p.R541R POC5_ENST00000514838.2_Silent_p.R513R|POC5_ENST00000510798.1_Silent_p.R365R|POC5_ENST00000380475.2_Silent_p.R365R|POC5_ENST00000446329.2_Silent_p.R516R NM_001099271.1 NP_001092741.1 Q8NA72 POC5_HUMAN POC5 centriolar protein 541 cell cycle centriole breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 GATGAATGGTCCGGGGATATT 0.398000 92 79 8.92586e-32 9.87761e-32 1 1 0 C12orf71 728858 broad.mit.edu 37 12 27235288 27235288 + Silent SNP A A G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr12:27235288A>G ENST00000429849.2 - 1 159 c.129T>C c.(127-129)gaT>gaC p.D43D NM_001080406.1 NP_001073875.1 A8MTZ7 CL071_HUMAN chromosome 12 open reading frame 71 43 endometrium(2)|large_intestine(1)|lung(4)|skin(1) 8 TGGAAGGTGCATCTTCCCAGG 0.547000 9 43 0 0 1 0 0 CDT1 81620 broad.mit.edu 37 16 88870299 88870299 + Missense_Mutation SNP C C G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr16:88870299C>G ENST00000301019.4 + 1 679 c.60C>G c.(58-60)atC>atG p.I20M NM_030928.3 NP_112190.2 Q9H211 CDT1_HUMAN chromatin licensing and DNA replication factor 1 20 DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|regulation of DNA-dependent DNA replication initiation|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle cytosol|nucleoplasm DNA binding|protein binding central_nervous_system(1)|endometrium(2)|kidney(1)|lung(3) 7 BRCA - Breast invasive adenocarcinoma(80;0.0476) ccccccgcATCGCGCCGCCCA 0.781000 2 7 0 0 1 0 0 INPP5D 3635 broad.mit.edu 37 2 234079249 234079249 + Splice_Site SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr2:234079249C>T ENST00000359570.5 + 18 1863 c.1863C>T c.(1861-1863)ttC>ttT p.F621F INPP5D_ENST00000538935.1_3'UTR|INPP5D_ENST00000450745.1_Splice_Site_p.F385F|INPP5D_ENST00000455936.2_Splice_Site_p.F385F Q92835 SHIP1_HUMAN inositol polyphosphate-5-phosphatase, 145kDa 633 apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway cytosol inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding central_nervous_system(1)|ovary(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) TCCTACACTTCGGTAAGAGCA 0.577000 16 18 0 0 1 0 0 ZFP36L2 678 broad.mit.edu 37 2 43452168 43452168 + Missense_Mutation SNP T T C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr2:43452168T>C ENST00000282388.3 - 2 1068 c.775A>G c.(775-777)Agc>Ggc p.S259G THADA_ENST00000330266.7_Intron NM_006887.4 NP_008818.3 P47974 TISD_HUMAN ZFP36 ring finger protein-like 2 259 cell proliferation nucleus DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 15 Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824) CCCGAGAAGCTGAGGCTGTGG 0.756000 7 12 0 0 1 0 0 EYS 346007 broad.mit.edu 37 6 66044988 66044988 + Missense_Mutation SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr6:66044988G>A ENST00000503581.1 - 11 2188 c.1651C>T c.(1651-1653)Cgg>Tgg p.R551W EYS_ENST00000393380.2_Missense_Mutation_p.R551W|EYS_ENST00000370616.2_Missense_Mutation_p.R551W|EYS_ENST00000370618.3_Missense_Mutation_p.R551W|EYS_ENST00000342421.5_Missense_Mutation_p.R551W|EYS_ENST00000370621.3_Missense_Mutation_p.R551W NM_001142800.1 NP_001136272.1 Q5T1H1 EYS_HUMAN eyes shut homolog (Drosophila) 551 R -> L. response to stimulus|visual perception extracellular region calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 69 CATAGATACCGATATTCCTGA 0.358000 15 98 0 0 1 0 0 GIF 2694 broad.mit.edu 37 11 59609985 59609985 + Missense_Mutation SNP C C G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr11:59609985C>G ENST00000541311.1 - 4 601 c.367G>C c.(367-369)Gag>Cag p.E123Q GIF_ENST00000257248.2_Missense_Mutation_p.E148Q P27352 IF_HUMAN gastric intrinsic factor (vitamin B synthesis) 148 cobalamin metabolic process|cobalamin transport|cobalt ion transport apical plasma membrane|endosome|extracellular space|microvillus cobalamin binding large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 17 AAGGTCGCCTCAGAGTTCTTC 0.577000 22 61 0 0 1 0 0 NANOS2 339345 broad.mit.edu 37 19 46417599 46417599 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr19:46417599C>T ENST00000341294.2 - 1 437 c.353G>A c.(352-354)gGt>gAt p.G118D NM_001029861.2 NP_001025032.1 P60321 NANO2_HUMAN nanos homolog 2 (Drosophila) 118 germ-line stem cell maintenance|mRNA catabolic process|multicellular organismal development|negative regulation of meiosis|regulation of translation|spermatogenesis cytoplasmic mRNA processing body|perinuclear region of cytoplasm RNA binding|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2) 6 Ovarian(192;0.0308)|all_neural(266;0.0476) OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0668)|Epithelial(262;0.231) CTGCTGGCCACCGTTAAGCGG 0.672000 21 23 0 0 1 0 0 DYNC2H1 79659 broad.mit.edu 37 11 103049829 103049829 + Missense_Mutation SNP G G T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr11:103049829G>T ENST00000375735.2 + 39 6358 c.6214G>T c.(6214-6216)Gat>Tat p.D2072Y DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.D2072Y NM_001080463.1|NM_001377.2 NP_001073932.1|NP_001368.2 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 2072 AAA 2 (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) TGTTCTGGATGATAATCGACT 0.388000 12 44 5.50884e-06 5.6713e-06 1 1 0 VPS53 55275 broad.mit.edu 37 17 556596 556596 + Silent SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr17:556596C>T ENST00000437048.2 - 7 689 c.543G>A c.(541-543)gtG>gtA p.V181V VPS53_ENST00000574029.1_Intron|VPS53_ENST00000291074.5_Silent_p.V152V|VPS53_ENST00000576149.1_Intron|VPS53_ENST00000571805.1_Silent_p.V181V|VPS53_ENST00000401468.3_Intron|VPS53_ENST00000446250.2_5'UTR NM_001128159.2 NP_001121631.1 Q5VIR6 VPS53_HUMAN vacuolar protein sorting 53 homolog (S. cerevisiae) 181 protein transport endosome membrane|Golgi apparatus breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1) 19 UCEC - Uterine corpus endometrioid carcinoma (25;0.0265) GGACATTCATCACACCCTGAA 0.448000 23 265 0 0 1 0 0 ILF3 3609 broad.mit.edu 37 19 10793282 10793282 + Missense_Mutation SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr19:10793282G>A ENST00000449870.1 + 13 1767 c.1450G>A c.(1450-1452)Gag>Aag p.E484K ILF3_ENST00000592763.1_Missense_Mutation_p.E484K|ILF3_ENST00000407004.3_Missense_Mutation_p.E484K|ILF3_ENST00000250241.8_Missense_Mutation_p.E484K|ILF3_ENST00000588657.1_Missense_Mutation_p.E484K|ILF3_ENST00000589998.1_Missense_Mutation_p.E484K|ILF3_ENST00000318511.3_Missense_Mutation_p.E484K|ILF3_ENST00000420083.1_Missense_Mutation_p.E484K|ILF3_ENST00000590261.1_Missense_Mutation_p.E484K NM_017620.2 NP_060090.2 Q12906 ILF3_HUMAN interleukin enhancer binding factor 3, 90kDa 484 M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleolus|ribonucleoprotein complex DNA binding|double-stranded RNA binding|protein binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 Epithelial(33;6.86e-06)|all cancers(31;1.65e-05) GGACTCGGCTGAGGAGACCGA 0.647000 9 33 0 0 1 0 0 EXD3 54932 broad.mit.edu 37 9 140250821 140250821 + Splice_Site SNP C C G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr9:140250821C>G ENST00000340951.4 - 8 852 c.e8-1 EXD3_ENST00000342129.4_Splice_Site NM_017820.3 NP_060290.3 Q8N9H8 MUT7_HUMAN exonuclease 3'-5' domain containing 3 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2) 12 AGGGTACCGTCTGTGGGGAGA 0.502000 6 8 0 0 1 0 0 RBCK1 10616 broad.mit.edu 37 20 391100 391100 + Nonsense_Mutation SNP C C G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr20:391100C>G ENST00000475269.1 + 3 892 c.212C>G c.(211-213)tCa>tGa p.S71* RBCK1_ENST00000400245.3_3'UTR|RBCK1_ENST00000400247.3_Nonsense_Mutation_p.S29*|RBCK1_ENST00000353660.3_Intron|RBCK1_ENST00000356286.5_Intron|RBCK1_ENST00000382181.2_Intron Q9BYM8 HOIL1_HUMAN RanBP-type and C3HC4-type zinc finger containing 1 141 Interaction with IRF3.|Interaction with RNF31.|Interaction with TAB2.|Ubiquitin-like. interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway LUBAC complex protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding kidney(1)|lung(4) 5 all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231) atccagccatcacatcacagg 0.473000 10 38 0 0 1 0 0 MYH1 4619 broad.mit.edu 37 17 10415489 10415489 + Missense_Mutation SNP G G C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr17:10415489G>C ENST00000226207.5 - 13 1262 c.1168C>G c.(1168-1170)Ctc>Gtc p.L390V CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 390 Myosin head-like. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 AGATTTTGGAGATAGGCTGCC 0.453000 238 219 0 0 1 0 0 SEMA3C 10512 broad.mit.edu 37 7 80418743 80418743 + Missense_Mutation SNP G G C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr7:80418743G>C ENST00000265361.3 - 12 1794 c.1233C>G c.(1231-1233)atC>atG p.I411M SEMA3C_ENST00000544525.1_Missense_Mutation_p.I429M|SEMA3C_ENST00000419255.2_Missense_Mutation_p.I411M NM_006379.3 NP_006370.1 Q99985 SEM3C_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C 411 Sema. immune response|response to drug membrane receptor activity NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 GGATTGGGTAGATGGAATTGT 0.453000 47 56 0 0 1 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33614470 33614470 + Missense_Mutation SNP C C G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr5:33614470C>G ENST00000504830.1 - 16 2735 c.2400G>C c.(2398-2400)caG>caC p.Q800H ADAMTS12_ENST00000352040.3_Missense_Mutation_p.Q715H|ADAMTS12_ENST00000504582.1_5'UTR NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 800 Spacer 1. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.Q800H(1) 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 GGTTAGTCACCTGGAATAGAA 0.438000 HNSCC(64;0.19) 6 90 0 0 1 0 0 SIPA1L2 57568 broad.mit.edu 37 1 232574863 232574863 + Missense_Mutation SNP G G C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr1:232574863G>C ENST00000366630.1 - 14 4380 c.4022C>G c.(4021-4023)tCt>tGt p.S1341C SIPA1L2_ENST00000262861.4_Missense_Mutation_p.S1341C|SIPA1L2_ENST00000308942.4_Missense_Mutation_p.S415C Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 2 1341 Ser-rich. regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 103 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) CCTGGAATGAGAGGATATCTC 0.582000 19 76 0 0 1 0 0 SH2D2A 9047 broad.mit.edu 37 1 156777073 156777073 + Missense_Mutation SNP T T G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr1:156777073T>G ENST00000392306.2 - 8 1236 c.1097A>C c.(1096-1098)cAc>cCc p.H366P SH2D2A_ENST00000368199.3_Missense_Mutation_p.H356P|SH2D2A_ENST00000368198.3_Missense_Mutation_p.H338P NM_001161441.1 NP_001154913.1 Q9NP31 SH22A_HUMAN SH2 domain containing 2A 356 Pro-rich. angiogenesis|cell differentiation|signal transduction cytoplasm|soluble fraction SH3 domain binding|SH3/SH2 adaptor activity endometrium(1)|large_intestine(2)|lung(15) 18 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) TGGGGGCTGGTGGGGCAGGGG 0.597000 5 22 0 0 1 0 0 C1GALT1C1 29071 broad.mit.edu 37 X 119760538 119760538 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chrX:119760538C>T ENST00000304661.5 - 2 722 c.484G>A c.(484-486)Gat>Aat p.D162N C1GALT1C1_ENST00000371313.2_Missense_Mutation_p.D162N NM_001011551.2 NP_001011551.1 Q96EU7 C1GLC_HUMAN C1GALT1-specific chaperone 1 162 integral to membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1) 11 TGTGATGGATCCTTTTTTAAC 0.383000 27 46 0 0 1 0 0 PCNT 5116 broad.mit.edu 37 21 47809235 47809235 + Silent SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr21:47809235C>T ENST00000359568.5 + 19 3836 c.3729C>T c.(3727-3729)ctC>ctT p.L1243L PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 1243 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) AAAGCTTTCTCATGAGCCCAG 0.577000 31 83 0 0 1 0 0 FLRT2 23768 broad.mit.edu 37 14 86089433 86089433 + Silent SNP A A G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr14:86089433A>G ENST00000330753.4 + 2 2342 c.1575A>G c.(1573-1575)acA>acG p.T525T FLRT2_ENST00000554746.1_Silent_p.T525T NM_013231.4 NP_037363.1 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 525 cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 73 BRCA - Breast invasive adenocarcinoma(234;0.0319) GCAGCAACACAGCGTCCAGCC 0.577000 21 143 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124402857 124402857 + Silent SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr10:124402857C>T ENST00000338354.3 + 53 7291 c.7185C>T c.(7183-7185)gtC>gtT p.V2395V DMBT1_ENST00000344338.3_Silent_p.V2385V|DMBT1_ENST00000368955.3_Silent_p.V2385V|DMBT1_ENST00000330163.4_Silent_p.V1767V|DMBT1_ENST00000359586.6_Silent_p.V1115V|DMBT1_ENST00000368956.2_Silent_p.V1767V|DMBT1_ENST00000368909.3_Silent_p.V2395V Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 2395 epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding p.V2395V(3)|p.V2524V(2) breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) AGGTGGACGTCGTCCTGGGTC 0.647000 17 41 0 0 1 0 0 BFSP1 631 broad.mit.edu 37 20 17492687 17492687 + Missense_Mutation SNP G G C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr20:17492687G>C ENST00000377873.3 - 4 600 c.561C>G c.(559-561)atC>atG p.I187M BFSP1_ENST00000544874.1_Missense_Mutation_p.I48M|BFSP1_ENST00000473415.1_5'UTR|BFSP1_ENST00000377868.2_Missense_Mutation_p.I62M|BFSP1_ENST00000536626.1_Missense_Mutation_p.I48M NM_001195.3 NP_001186.1 Q12934 BFSP1_HUMAN beaded filament structural protein 1, filensin 187 Linker 12.|Rod. cytoplasm|intermediate filament|membrane structural constituent of cytoskeleton|structural constituent of eye lens central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1) 18 GCAGGATGCTGATATAGGTCT 0.473000 17 62 0 0 1 0 0 LAMA3 3909 broad.mit.edu 37 18 21399954 21399954 + Nonsense_Mutation SNP C C G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr18:21399954C>G ENST00000313654.9 + 19 2538 c.2297C>G c.(2296-2298)tCa>tGa p.S766* LAMA3_ENST00000399516.3_Nonsense_Mutation_p.S766* NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 766 cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CAAATGACCTCAGTACAGGTA 0.527000 9 67 0 0 1 0 0 GNL3L 54552 broad.mit.edu 37 X 54578731 54578731 + Missense_Mutation SNP G G C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chrX:54578731G>C ENST00000336470.4 + 13 1327 c.1188G>C c.(1186-1188)aaG>aaC p.K396N GNL3L_ENST00000360845.2_Missense_Mutation_p.K396N NM_019067.5 NP_061940.1 Q9NVN8 GNL3L_HUMAN guanine nucleotide binding protein-like 3 (nucleolar)-like 396 ribosome biogenesis nucleolus GTP binding NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 30 GCAGCGGGAAGATCAGCTTCT 0.502000 18 55 0 0 1 0 0 ZNF814 730051 broad.mit.edu 37 19 58385762 58385762 + Silent SNP C C G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr19:58385762C>G ENST00000435989.2 - 3 1230 c.996G>C c.(994-996)tcG>tcC p.S332S ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 332 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.S332S(2) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 ATTTGCTAAACGATTTCCCAC 0.358000 2 12 0 0 1 0 0 RNF213 57674 broad.mit.edu 37 17 78272261 78272261 + Missense_Mutation SNP C C A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr17:78272261C>A ENST00000582970.1 + 11 2296 c.2153C>A c.(2152-2154)aCc>aAc p.T718N RNF213_ENST00000456466.1_Missense_Mutation_p.T718N|RNF213_ENST00000508628.2_Missense_Mutation_p.T767N|RNF213_ENST00000319921.4_Missense_Mutation_p.T718N NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 718 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) CCTGAGGACACCTGGGCCGCT 0.582000 14 49 9.31168e-06 9.56066e-06 1 1 0 ZNF672 79894 broad.mit.edu 37 1 249142042 249142042 + Missense_Mutation SNP C C G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr1:249142042C>G ENST00000306562.3 + 4 1315 c.569C>G c.(568-570)cCc>cGc p.P190R NM_024836.1 NP_079112.1 Q499Z4 ZN672_HUMAN zinc finger protein 672 190 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(1) 5 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.19) OV - Ovarian serous cystadenocarcinoma(106;0.00805) TCCCGGAGCCCCACGCGACCC 0.716000 6 17 0 0 1 0 0 RET 5979 broad.mit.edu 37 10 43620387 43620387 + Missense_Mutation SNP C C A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr10:43620387C>A ENST00000355710.3 + 18 3228 c.2996C>A c.(2995-2997)gCg>gAg p.A999E RET_ENST00000340058.5_Missense_Mutation_p.A999E NM_020975.4 NP_066124.1 P07949 RET_HUMAN ret proto-oncogene 999 Protein kinase. homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity CCDC6/RET(4)|KIF5B/RET(79) NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1) 607 Ovarian(717;0.0423) Sunitinib(DB01268) CCGGTGTTTGCGGACATCAGC 0.557000 1 """T, Mis, N, F""" """H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6""" """medullary thyroid, papillary thyroid, pheochromocytoma, NSCLC""" """medullary thyroid, papillary thyroid, pheochromocytoma""" Hirschsprung disease Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma 21 69 4.4004e-07 4.57928e-07 1 1 0 VAPA 9218 broad.mit.edu 37 18 9914267 9914267 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr18:9914267C>T ENST00000400000.2 + 1 269 c.14C>T c.(13-15)tCa>tTa p.S5L VAPA_ENST00000340541.4_Missense_Mutation_p.S5L NM_003574.5|NM_194434.2 NP_003565.4|NP_919415.2 Q9P0L0 VAPA_HUMAN VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa 5 cell death|cellular membrane fusion|neuron projection development|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein localization in endoplasmic reticulum|sphingolipid metabolic process endoplasmic reticulum membrane|integral to membrane|plasma membrane|vesicle protein heterodimerization activity|signal transducer activity|structural molecule activity breast(1)|lung(2)|prostate(1) 4 GCGTCCGCCTCAGGGGCCATG 0.716000 4 17 0 0 1 0 0 MED12L 116931 broad.mit.edu 37 3 151112453 151112453 + Missense_Mutation SNP G G C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr3:151112453G>C ENST00000474524.1 + 37 5551 c.5513G>C c.(5512-5514)aGa>aCa p.R1838T MED12L_ENST00000273432.4_Missense_Mutation_p.R1698T NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 1838 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GGTGGCTCCAGATTGGACCCT 0.463000 39 156 0 0 1 0 0 SLC12A5 57468 broad.mit.edu 37 20 44676672 44676672 + Missense_Mutation SNP C C G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr20:44676672C>G ENST00000243964.3 + 16 2058 c.1960C>G c.(1960-1962)Cgc>Ggc p.R654G SLC12A5_ENST00000454036.2_Missense_Mutation_p.R677G NM_020708.4 NP_065759.1 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium/chloride transporter), member 5 677 potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 80 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) CAGTGCGGCTCGCTATGCCCT 0.602000 4 17 0 0 1 0 0 EMID1 129080 broad.mit.edu 37 22 29628275 29628275 + Missense_Mutation SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr22:29628275G>A ENST00000334018.6 + 8 895 c.707G>A c.(706-708)cGg>cAg p.R236Q EMID1_ENST00000484039.1_3'UTR|EMID1_ENST00000404820.3_Missense_Mutation_p.R236Q|EMID1_ENST00000404755.3_Missense_Mutation_p.R236Q NM_001267895.1|NM_133455.3 NP_001254824.1|NP_597712.2 Q96A84 EMID1_HUMAN EMI domain containing 1 234 Collagen-like. collagen NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3) 12 AGCCCTGGCCGGGCTGGAGCT 0.701000 31 25 0 0 1 0 0 MYH13 8735 broad.mit.edu 37 17 10235464 10235464 + Silent SNP G G T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr17:10235464G>T ENST00000418404.3 - 19 2413 c.2250C>A c.(2248-2250)ctC>ctA p.L750L MYH13_ENST00000252172.4_Silent_p.L750L|RP11-401O9.3_ENST00000577743.1_RNA Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 750 Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity p.L750L(2) breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 CGATGGAGTTGAGGAGCTTCT 0.552000 14 130 1.05317e-09 1.11104e-09 1 1 0 EGFLAM 133584 broad.mit.edu 37 5 38435313 38435313 + Missense_Mutation SNP G G C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr5:38435313G>C ENST00000322350.5 + 16 2587 c.2241G>C c.(2239-2241)aaG>aaC p.K747N EGFLAM_ENST00000336740.6_Missense_Mutation_p.K513N|EGFLAM_ENST00000397202.2_Missense_Mutation_p.K113N|EGFLAM_ENST00000354891.3_Missense_Mutation_p.K747N NM_152403.3 NP_689616.2 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G domains 747 Laminin G-like 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) ATGTGAAGAAGAACTCGGGTG 0.463000 30 113 0 0 1 0 0 CDH22 64405 broad.mit.edu 37 20 44806753 44806753 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr20:44806753C>T ENST00000372262.3 - 10 2147 c.1747G>A c.(1747-1749)Gac>Aac p.D583N CDH22_ENST00000537909.1_Missense_Mutation_p.D583N NM_021248.1 NP_067071.1 Q9UJ99 CAD22_HUMAN cadherin 22, type 2 583 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 44 Myeloproliferative disorder(115;0.0122) GGCCCACTGTCTACCACCAGG 0.632000 6 37 0 0 1 0 0 SMCHD1 23347 broad.mit.edu 37 18 2732308 2732308 + Missense_Mutation SNP C C G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr18:2732308C>G ENST00000320876.6 + 25 3432 c.3094C>G c.(3094-3096)Ccc>Gcc p.P1032A SMCHD1_ENST00000261598.8_Missense_Mutation_p.P1032A|RP11-703M24.5_ENST00000583546.1_RNA NM_015295.2 NP_056110.2 A6NHR9 SMHD1_HUMAN structural maintenance of chromosomes flexible hinge domain containing 1 1032 chromosome organization ATP binding NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1) 45 TAAGTTGCTTCCCAGTAGCCA 0.383000 35 95 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9076183 9076183 + Missense_Mutation SNP G G C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr19:9076183G>C ENST00000397910.4 - 3 11466 c.11263C>G c.(11263-11265)Cag>Gag p.Q3755E NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 3756 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GTGGCCCCCTGAGGAGCTGAG 0.522000 30 138 0 0 1 0 0 FAM115A 9747 broad.mit.edu 37 7 143573631 143573631 + Missense_Mutation SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr7:143573631G>A ENST00000479870.1 - 2 279 c.71C>T c.(70-72)gCt>gTt p.A24V FAM115A_ENST00000355951.2_Missense_Mutation_p.A24V|FAM115A_ENST00000392900.3_Intron NM_001206938.1|NM_001206941.1|NM_014719.2 NP_001193867.1|NP_001193870.1|NP_055534 Q9Y4C2 F115A_HUMAN family with sequence similarity 115, member A 24 NS(1)|endometrium(1)|lung(5) 7 Melanoma(164;0.0903) ACATGGAACAGCATCTTCGGG 0.527000 4 60 0 0 1 0 0 PLEKHA5 54477 broad.mit.edu 37 12 19406895 19406895 + Silent SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr12:19406895C>T ENST00000538714.1 + 4 253 c.249C>T c.(247-249)acC>acT p.T83T PLEKHA5_ENST00000539256.1_5'UTR|PLEKHA5_ENST00000359180.3_Silent_p.T83T|PLEKHA5_ENST00000424268.1_5'UTR|PLEKHA5_ENST00000299275.6_Silent_p.T83T|PLEKHA5_ENST00000355397.3_Silent_p.T83T|PLEKHA5_ENST00000317589.4_Silent_p.T83T|PLEKHA5_ENST00000429027.2_Silent_p.T83T|PLEKHA5_ENST00000309364.4_Silent_p.T83T|PLEKHA5_ENST00000543806.1_5'UTR NM_001143821.2 NP_001137293.2 Q9HAU0 PKHA5_HUMAN pleckstrin homology domain containing, family A member 5 83 WW 2. 1-phosphatidylinositol binding|protein binding autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804) GGAAAGTGACCTGCAAACATC 0.323000 109 79 0 0 1 0 0 CAPSL 133690 broad.mit.edu 37 5 35910153 35910153 + Missense_Mutation SNP C C G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr5:35910153C>G ENST00000397367.2 - 4 466 c.340G>C c.(340-342)Gag>Cag p.E114Q CAPSL_ENST00000514524.1_Missense_Mutation_p.E114Q|CAPSL_ENST00000397366.1_Missense_Mutation_p.E114Q NM_144647.3 NP_653248.3 Q8WWF8 CAPSL_HUMAN calcyphosine-like 114 EF-hand 3. cytoplasm calcium ion binding central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1) 19 all_lung(31;0.000268) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202) ATGATTACCTCTTTTCTGGCT 0.353000 55 144 0 0 1 0 0 FBXO43 286151 broad.mit.edu 37 8 101154324 101154324 + Missense_Mutation SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr8:101154324G>A ENST00000428847.2 - 2 474 c.158C>T c.(157-159)tCt>tTt p.S53F NM_001029860.3 NP_001025031.2 Q4G163 FBX43_HUMAN F-box protein 43 53 meiosis zinc ion binding endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1) 31 all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798) Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957) AATTGGAGGAGAGTCCGCCCC 0.423000 95 39 0 0 1 0 0 PRKG2 5593 broad.mit.edu 37 4 82126175 82126175 + Silent SNP T T C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr4:82126175T>C ENST00000395578.1 - 2 143 c.27A>G c.(25-27)aaA>aaG p.K9K PRKG2_ENST00000264399.1_Silent_p.K9K|PRKG2_ENST00000418486.2_Silent_p.K9K Q13237 KGP2_HUMAN protein kinase, cGMP-dependent, type II 9 platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2) 37 GCTTAGAATGTTTAGGTTTCA 0.502000 10 40 0 0 1 0 0 RBM22 55696 broad.mit.edu 37 5 150080509 150080509 + Missense_Mutation SNP C C G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr5:150080509C>G ENST00000199814.4 - 1 160 c.39G>C c.(37-39)caG>caC p.Q13H RBM22_ENST00000447771.2_Missense_Mutation_p.Q13H|RBM22_ENST00000540000.1_Missense_Mutation_p.Q13H NM_018047.2 NP_060517.1 Q9NW64 RBM22_HUMAN RNA binding motif protein 22 13 protein import into nucleus, translocation catalytic step 2 spliceosome|cytoplasm calcium-dependent protein binding|nucleotide binding|RNA binding|zinc ion binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1) 17 Medulloblastoma(196;0.167) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCTCCCAGTTCTGCCTGTTGT 0.637000 OREG0016939 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 33 31 0 0 1 0 0 GRIN2A 2903 broad.mit.edu 37 16 9857673 9857673 + Missense_Mutation SNP C C A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr16:9857673C>A ENST00000396573.2 - 14 4037 c.3728G>T c.(3727-3729)gGg>gTg p.G1243V GRIN2A_ENST00000330684.3_Missense_Mutation_p.G1243V|GRIN2A_ENST00000396575.2_Missense_Mutation_p.G1243V|GRIN2A_ENST00000404927.2_Missense_Mutation_p.G1243V|GRIN2A_ENST00000562109.1_Missense_Mutation_p.G1243V|GRIN2A_ENST00000535259.1_Missense_Mutation_p.G1086V NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 1243 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) ATAGAGGTTCCCCATCCGCAG 0.572000 68 52 1.50372e-20 1.63115e-20 1 1 0 TMLHE 55217 broad.mit.edu 37 X 154736681 154736681 + Silent SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chrX:154736681G>A ENST00000334398.3 - 6 1018 c.873C>T c.(871-873)ctC>ctT p.L291L TMLHE_ENST00000369439.4_Silent_p.L291L|TMLHE-AS1_ENST00000452506.1_RNA NM_018196.3 NP_060666.1 Q9NVH6 TMLH_HUMAN trimethyllysine hydroxylase, epsilon 291 carnitine biosynthetic process mitochondrial matrix iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|trimethyllysine dioxygenase activity p.L291L(1) breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 20 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Succinic acid(DB00139)|Vitamin C(DB00126) CTTTACTGAGGAGTTCAAATT 0.418000 90 48 0 0 1 0 0 RNF17 56163 broad.mit.edu 37 13 25416223 25416223 + Missense_Mutation SNP C C G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr13:25416223C>G ENST00000255324.5 + 19 2579 c.2527C>G c.(2527-2529)Ctt>Gtt p.L843V RNF17_ENST00000381921.1_Missense_Mutation_p.L843V NM_001184993.1|NM_031277.2 NP_001171922.1|NP_112567.2 Q9BXT8 RNF17_HUMAN ring finger protein 17 843 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding p.L843F(1) NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) TTTCGATTCTCTTGGTGCTCC 0.333000 7 70 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132502842 132502842 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr12:132502842C>T ENST00000333577.4 + 22 4415 c.4306C>T c.(4306-4308)Ccg>Tcg p.P1436S EP400_ENST00000332482.4_Missense_Mutation_p.P1363S|EP400_ENST00000330386.6_Missense_Mutation_p.P1400S|EP400_ENST00000389561.2_Missense_Mutation_p.P1400S|EP400_ENST00000389562.2_Missense_Mutation_p.P1399S Q96L91 EP400_HUMAN E1A binding protein p400 1436 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) GAAAAAGATACCGCGGAAACT 0.502000 31 47 0 0 1 0 0 SYNDIG1 79953 broad.mit.edu 37 20 24524190 24524190 + Missense_Mutation SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr20:24524190G>A ENST00000376862.3 + 2 1090 c.457G>A c.(457-459)Gag>Aag p.E153K NM_024893.1 NP_079169.1 Q9H7V2 SYNG1_HUMAN synapse differentiation inducing 1 153 Poly-Glu. response to biotic stimulus early endosome membrane|integral to membrane|plasma membrane breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3) 24 TGTGGAGGAGGAGGAGGAGTT 0.542000 44 114 0 0 1 0 0 ASCC3 10973 broad.mit.edu 37 6 101214503 101214503 + Missense_Mutation SNP T T C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr6:101214503T>C ENST00000369162.2 - 10 2019 c.1675A>G c.(1675-1677)Atc>Gtc p.I559V ASCC3_ENST00000522650.1_Missense_Mutation_p.I559V NM_006828.2 NP_006819.2 Q8N3C0 HELC1_HUMAN activating signal cointegrator 1 complex subunit 3 559 Helicase ATP-binding 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 92 all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199) TTCACAATGATGCCTAGTGGC 0.383000 42 74 0 0 1 0 0 TCERG1L 256536 broad.mit.edu 37 10 132891546 132891546 + Missense_Mutation SNP C C A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr10:132891546C>A ENST00000368642.4 - 12 1725 c.1640G>T c.(1639-1641)cGg>cTg p.R547L NM_174937.3 NP_777597.2 Q5VWI1 TCRGL_HUMAN transcription elongation regulator 1-like 547 FF 2. cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 31 all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09) all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276) CCTCTGATCCCGGCCGTATTT 0.443000 8 96 0.000157383 0.000160732 1 1 0 OR5D13 390142 broad.mit.edu 37 11 55541543 55541543 + Silent SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr11:55541543G>A ENST00000361760.1 + 1 630 c.630G>A c.(628-630)gtG>gtA p.V210V NM_001001967.1 NP_001001967.1 Q8NGL4 OR5DD_HUMAN olfactory receptor, family 5, subfamily D, member 13 210 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1) 40 all_epithelial(135;0.196) TCAATGAGGTGAGCAGCCTAA 0.403000 24 124 0 0 1 0 0 GPR22 2845 broad.mit.edu 37 7 107114751 107114751 + Missense_Mutation SNP G G T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr7:107114751G>T ENST00000304402.4 + 3 1589 c.246G>T c.(244-246)atG>atT p.M82I COG5_ENST00000347053.3_Intron|COG5_ENST00000297135.3_Intron|COG5_ENST00000475638.2_Intron|COG5_ENST00000393603.2_Intron NM_005295.2 NP_005286.2 Q99680 GPR22_HUMAN G protein-coupled receptor 22 82 integral to plasma membrane G-protein coupled receptor activity large_intestine(3)|lung(6)|ovary(2)|stomach(1) 12 TTATTACAATGAATCTTCATG 0.363000 58 94 5.22555e-25 5.7006e-25 1 1 0 TYK2 7297 broad.mit.edu 37 19 10488945 10488945 + Silent SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr19:10488945G>A ENST00000525621.1 - 3 619 c.138C>T c.(136-138)ttC>ttT p.F46F TYK2_ENST00000264818.6_Silent_p.F46F|TYK2_ENST00000524462.1_Intron|TYK2_ENST00000529370.1_Silent_p.F46F NM_003331.4 NP_003322.3 P29597 TYK2_HUMAN tyrosine kinase 2 46 FERM. intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytoskeleton|cytosol|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06) ATGACTCACTGAAAGTGACCC 0.622000 29 45 0 0 1 0 0 ZBTB7A 51341 broad.mit.edu 37 19 4054074 4054074 + Missense_Mutation SNP A A T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr19:4054074A>T ENST00000322357.4 - 2 1435 c.1157T>A c.(1156-1158)aTc>aAc p.I386N ZBTB7A_ENST00000601588.1_Missense_Mutation_p.I386N NM_015898.2 NP_056982.1 O95365 ZBT7A_HUMAN zinc finger and BTB domain containing 7A 386 cell differentiation|multicellular organismal development|transcription, DNA-dependent nucleus DNA binding|histone acetyltransferase binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 14 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18) CTTCTCGCAGATGGGGCACTT 0.637000 29 43 0 0 1 0 0 MOAP1 64112 broad.mit.edu 37 14 93650482 93650482 + Nonsense_Mutation SNP C C A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr14:93650482C>A ENST00000556883.1 - 2 590 c.106G>T c.(106-108)Gag>Tag p.E36* MOAP1_ENST00000298894.4_Nonsense_Mutation_p.E36* Q96BY2 MOAP1_HUMAN modulator of apoptosis 1 36 activation of caspase activity|apoptotic nuclear change cytoplasm protein homodimerization activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2) 13 all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13) Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204) agagcctcctcgatttctgcc 0.537000 122 147 7.97055e-49 8.92329e-49 1 1 0 SLC17A2 10246 broad.mit.edu 37 6 25918715 25918715 + Splice_Site SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr6:25918715C>T ENST00000377850.3 - 6 1173 c.649G>A c.(649-651)Ggt>Agt p.G217S SLC17A2_ENST00000360488.3_Splice_Site_p.G217S|SLC17A2_ENST00000265425.3_Splice_Site_p.G217S O00624 NPT3_HUMAN solute carrier family 17, member 2 217 phosphate metabolic process integral to plasma membrane|membrane fraction sodium:phosphate symporter activity endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 31 AGTGACTCACCAAAGATGTAG 0.443000 11 59 0 0 1 0 0 DCT 1638 broad.mit.edu 37 13 95114445 95114445 + Splice_Site SNP T T A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr13:95114445T>A ENST00000377028.5 - 5 1277 c.e5-2 DCT_ENST00000490854.1_Splice_Site|DCT_ENST00000446125.1_Splice_Site NM_001922.3 NP_001913.2 P40126 TYRP2_HUMAN dopachrome tautomerase epidermis development|melanin biosynthetic process from tyrosine cytosol|integral to membrane|melanosome membrane|microsome copper ion binding|dopachrome isomerase activity|oxidoreductase activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 50 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988) COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472) TCATCCAAGCTAAGATTTGTA 0.433000 9 47 0 0 1 0 0 IGKV1-8 28942 broad.mit.edu 37 2 89292027 89292027 + RNA SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr2:89292027G>A ENST00000495489.1 - 0 298 CACTGCCGCTGAACCTTGATG 0.463000 149 120 0 0 1 0 0 DNAAF3 352909 broad.mit.edu 37 19 55676784 55676784 + Silent SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr19:55676784C>T ENST00000527223.2 - 4 481 c.480G>A c.(478-480)ctG>ctA p.L160L DNAAF3_ENST00000391720.4_Silent_p.L139L|DNAAF3_ENST00000524407.2_Silent_p.L92L|DNAAF3_ENST00000455045.1_Silent_p.L38L|CTD-2587H24.5_ENST00000591665.1_RNA NM_001256714.1 NP_001243643 Q8N9W5 CS051_HUMAN dynein, axonemal, assembly factor 3 92 GGCTGAAGATCAGCATGTGTC 0.547000 43 21 0 0 1 0 0 NSMAF 8439 broad.mit.edu 37 8 59506850 59506850 + Splice_Site SNP C C G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr8:59506850C>G ENST00000038176.3 - 23 2105 c.e23-1 NSMAF_ENST00000427130.2_Splice_Site NM_003580.3 NP_003571.2 Q92636 FAN_HUMAN neutral sphingomyelinase (N-SMase) activation associated factor ceramide metabolic process cytoplasm|soluble fraction protein binding|receptor signaling protein activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 38 all_lung(136;0.174)|Lung NSC(129;0.2) AGTAACTGCTCTGCTCAAAAA 0.388000 4 43 0 0 1 0 0 ZNF236 7776 broad.mit.edu 37 18 74607060 74607060 + Missense_Mutation SNP C C G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr18:74607060C>G ENST00000253159.8 + 10 1701 c.1503C>G c.(1501-1503)atC>atG p.I501M ZNF236_ENST00000320610.9_Missense_Mutation_p.I503M NM_007345.3 NP_031371.3 Q9UL36 ZN236_HUMAN zinc finger protein 236 501 cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 94 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) TCCGCCACATCCGCATCCACA 0.647000 42 55 0 0 1 0 0 STIL 6491 broad.mit.edu 37 1 47767248 47767248 + Silent SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr1:47767248G>A ENST00000360380.3 - 6 801 c.438C>T c.(436-438)ttC>ttT p.F146F STIL_ENST00000371877.3_Silent_p.F146F|STIL_ENST00000396221.2_Silent_p.F146F|STIL_ENST00000337817.5_Silent_p.F146F|STIL_ENST00000243182.6_Silent_p.F146F NM_001282936.1 NP_001269865.1 Q15468 STIL_HUMAN SCL/TAL1 interrupting locus 146 cell proliferation|multicellular organismal development centrosome|cytosol central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 36 Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444) AAGCTGAACTGAAGTCATCTA 0.348000 46 29 0 0 1 0 0 CDH4 1002 broad.mit.edu 37 20 60511869 60511869 + Silent SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr20:60511869C>T ENST00000360469.5 + 16 2707 c.2619C>T c.(2617-2619)agC>agT p.S873S CDH4_ENST00000543233.1_Silent_p.S799S NM_001794.3 NP_001785.2 P55283 CADH4_HUMAN cadherin 4, type 1, R-cadherin (retinal) 873 Ser-rich. adherens junction organization|cell junction assembly calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) ACGAGGGGAGCGGCTCCACCG 0.622000 7 48 0 0 1 0 0 MAGEC2 51438 broad.mit.edu 37 X 141291225 141291225 + Missense_Mutation SNP C C G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chrX:141291225C>G ENST00000247452.3 - 3 896 c.549G>C c.(547-549)aaG>aaC p.K183N NM_016249.3 NP_057333.1 Q9UBF1 MAGC2_HUMAN melanoma antigen family C, 2 183 MAGE. cytoplasm|nucleus NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3) 47 Acute lymphoblastic leukemia(192;6.56e-05) CACGGGCTCTCTTGAGTATCA 0.483000 HNSCC(46;0.14) 112 73 0 0 1 0 0 OR13C8 138802 broad.mit.edu 37 9 107332253 107332253 + Missense_Mutation SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr9:107332253G>A ENST00000335040.1 + 1 805 c.805G>A c.(805-807)Gat>Aat p.D269N NM_001004483.1 NP_001004483.1 Q8NGS7 O13C8_HUMAN olfactory receptor, family 13, subfamily C, member 8 269 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1) 25 AGCCTCTGTTGATTCAGGTAA 0.453000 39 85 0 0 1 0 0 UBE3B 89910 broad.mit.edu 37 12 109939197 109939197 + Silent SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr12:109939197G>A ENST00000342494.3 + 13 1735 c.1140G>A c.(1138-1140)ttG>ttA p.L380L UBE3B_ENST00000434735.2_Silent_p.L380L|UBE3B_ENST00000280774.5_Silent_p.L380L NM_130466.3 NP_569733.2 Q7Z3V4 UBE3B_HUMAN ubiquitin protein ligase E3B 380 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2) 45 CAATGCACTTGATCACCAAAC 0.557000 111 76 0 0 1 0 0 ZNF569 148266 broad.mit.edu 37 19 37916855 37916855 + Silent SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr19:37916855G>A ENST00000316950.6 - 5 710 c.153C>T c.(151-153)ttC>ttT p.F51F ZNF569_ENST00000392150.2_Intron|ZNF569_ENST00000589833.1_Silent_p.F75F|ZNF569_ENST00000392149.2_Silent_p.F51F|ZNF569_ENST00000592490.1_Intron NM_152484.2 NP_689697.2 Q5MCW4 ZN569_HUMAN zinc finger protein 569 51 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CAGGTTTGGTGAACGGATAGC 0.443000 61 794 0 0 1 0 0 PRRC2A 7916 broad.mit.edu 37 6 31601375 31601375 + Silent SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr6:31601375G>A ENST00000376033.2 + 17 4773 c.4539G>A c.(4537-4539)agG>agA p.R1513R PRRC2A_ENST00000376007.4_Silent_p.R1513R NM_004638.3 NP_004629.3 P48634 PRC2A_HUMAN proline-rich coiled-coil 2A 1513 4 X 57 AA type A repeats. 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 CCTCTCCTAGGCCCCCAACCC 0.612000 12 40 0 0 1 0 0 HSP90AA1 3320 broad.mit.edu 37 14 102549376 102549376 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr14:102549376C>T ENST00000334701.7 - 10 2397 c.2116G>A c.(2116-2118)Gaa>Aaa p.E706K HSP90AA1_ENST00000441629.2_Missense_Mutation_p.E405K|HSP90AA1_ENST00000216281.8_Missense_Mutation_p.E584K NM_001017963.2 NP_001017963.2 P07900 HS90A_HUMAN heat shock protein 90kDa alpha (cytosolic), class A member 1 584 Required for homodimerization. axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction cytosol|melanosome|plasma membrane ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1) 28 Rifabutin(DB00615) CATACCTTTTCAACTTTTTTC 0.343000 35 34 0 0 1 0 0 ZBTB7A 51341 broad.mit.edu 37 19 4048230 4048230 + Silent SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr19:4048230C>T ENST00000322357.4 - 3 1553 c.1275G>A c.(1273-1275)ctG>ctA p.L425L ZBTB7A_ENST00000601588.1_Silent_p.L425L NM_015898.2 NP_056982.1 O95365 ZBT7A_HUMAN zinc finger and BTB domain containing 7A 425 cell differentiation|multicellular organismal development|transcription, DNA-dependent nucleus DNA binding|histone acetyltransferase binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 14 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18) TGTGCACCTTCAGCTTGTCCT 0.697000 11 21 0 0 1 0 0 TYW1 55253 broad.mit.edu 37 7 66463173 66463173 + Missense_Mutation SNP C C G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr7:66463173C>G ENST00000359626.5 + 2 290 c.126C>G c.(124-126)atC>atG p.I42M TYW1_ENST00000491969.1_3'UTR NM_018264.2 NP_060734.2 Q9NV66 TYW1_HUMAN tRNA-yW synthesizing protein 1 homolog (S. cerevisiae) 42 tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2) 46 Lung NSC(55;0.0846)|all_lung(88;0.183) AGATTGTCATCAAGACGCAGG 0.318000 39 118 0 0 1 0 0 LGALS9 3965 broad.mit.edu 37 17 25967659 25967659 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr17:25967659C>T ENST00000395473.2 + 3 1661 c.193C>T c.(193-195)Cgg>Tgg p.R65W LGALS9_ENST00000448970.2_3'UTR|LGALS9_ENST00000413914.2_Intron|AC015688.3_ENST00000584605.1_3'UTR|LGALS9_ENST00000310394.5_Missense_Mutation_p.R65W|LGALS9_ENST00000302228.5_Missense_Mutation_p.R65W|LGALS9_ENST00000313648.6_Missense_Mutation_p.R65W NM_009587.2 NP_033665.1 O00182 LEG9_HUMAN lectin, galactoside-binding, soluble, 9 65 Galectin 1. positive regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|extracellular region galactose binding|signal transducer activity endometrium(3)|large_intestine(2)|lung(12)|skin(1) 18 Lung NSC(42;0.0103) BRCA - Breast invasive adenocarcinoma(3;0.0141) UCEC - Uterine corpus endometrioid carcinoma (53;0.155) CTTCAACCCTCGGTTTGAAGA 0.537000 48 69 0 0 1 0 0 ETS1 2113 broad.mit.edu 37 11 128354726 128354726 + Missense_Mutation SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr11:128354726G>A ENST00000392668.4 - 7 938 c.854C>T c.(853-855)aCc>aTc p.T285I ETS1_ENST00000319397.6_Missense_Mutation_p.T241I|ETS1_ENST00000345075.4_Missense_Mutation_p.T241I|ETS1_ENST00000526145.2_Missense_Mutation_p.T241I|ETS1_ENST00000531611.1_Missense_Mutation_p.T241I|ETS1_ENST00000535549.1_Intron NM_001143820.1 NP_001137292.1 P14921 ETS1_HUMAN v-ets avian erythroblastosis virus E26 oncogene homolog 1 cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3) 35 all_hematologic(175;0.0537) Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833) ACCACGACTGGTCCTCCCCAT 0.418000 21 63 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39838193 39838193 + Missense_Mutation SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr1:39838193G>A ENST00000564288.1 + 52 13915 c.13138G>A c.(13138-13140)Gaa>Aaa p.E4380K MACF1_ENST00000361689.2_Missense_Mutation_p.E2318K|MACF1_ENST00000289893.4_Missense_Mutation_p.E2820K|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000317713.7_Missense_Mutation_p.E2318K|MACF1_ENST00000567887.1_Missense_Mutation_p.E4417K|MACF1_ENST00000372915.3_Missense_Mutation_p.E4385K|MACF1_ENST00000545844.1_Missense_Mutation_p.E2318K|MACF1_ENST00000539005.1_Missense_Mutation_p.E2318K Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 4385 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) TCTGGTGGAAGAAATCAATTG 0.403000 22 59 0 0 1 0 0 ANKRD13D 338692 broad.mit.edu 37 11 67068616 67068616 + Missense_Mutation SNP T T C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr11:67068616T>C ENST00000447274.2 + 11 2143 c.968T>C c.(967-969)aTt>aCt p.I323T ANKRD13D_ENST00000514166.1_Missense_Mutation_p.I323T|ANKRD13D_ENST00000308440.6_Missense_Mutation_p.I323T|ANKRD13D_ENST00000515828.1_Missense_Mutation_p.I60T|ANKRD13D_ENST00000511455.2_Missense_Mutation_p.I410T Q6ZTN6 AN13D_HUMAN ankyrin repeat domain 13 family, member D 323 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1) 9 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) CCCGTCAAAATTGGTGAGAGG 0.632000 10 35 0 0 1 0 0 KNTC1 9735 broad.mit.edu 37 12 123024233 123024233 + Missense_Mutation SNP A A G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr12:123024233A>G ENST00000333479.7 + 5 554 c.377A>G c.(376-378)cAg>cGg p.Q126R KNTC1_ENST00000450485.2_Missense_Mutation_p.Q126R NM_014708.4 NP_055523.1 P50748 KNTC1_HUMAN kinetochore associated 1 126 cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole protein binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 72 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217) GCATTTGTTCAGAAAGCTAAC 0.279000 3 1 0 0 1 0 0 KIAA0556 23247 broad.mit.edu 37 16 27761548 27761548 + Silent SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr16:27761548G>A ENST00000261588.4 + 16 3286 c.3267G>A c.(3265-3267)gtG>gtA p.V1089V NM_015202.2 NP_056017.2 O60303 K0556_HUMAN KIAA0556 1089 breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 76 TCCGAGGCGTGAAGGACATCA 0.502000 41 72 0 0 1 0 0 KCNC4 3749 broad.mit.edu 37 1 110766110 110766110 + Silent SNP C C T rs139324520 TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr1:110766110C>T ENST00000369787.3 + 2 1230 c.1203C>T c.(1201-1203)taC>taT p.Y401Y KCNC4_ENST00000438661.2_Silent_p.Y401Y|KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000413138.3_Silent_p.Y401Y NM_004978.4 NP_004969.2 Q03721 KCNC4_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 4 401 synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2) 32 all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135) TGATCTACTACGCTGAGCGCA 0.592000 35 120 0 0 1 0 0 ST8SIA6 338596 broad.mit.edu 37 10 17373460 17373460 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr10:17373460C>T ENST00000377602.4 - 5 543 c.469G>A c.(469-471)Gaa>Aaa p.E157K NM_001004470.1 NP_001004470.1 P61647 SIA8F_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 157 post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1) 37 TTTTTGCTTTCCACCTCGTAA 0.393000 22 63 0 0 1 0 0 TMC8 147138 broad.mit.edu 37 17 76134203 76134203 + Silent SNP C C G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr17:76134203C>G ENST00000318430.5 + 12 1841 c.1467C>G c.(1465-1467)ctC>ctG p.L489L TMC8_ENST00000589691.1_Silent_p.L266L NM_152468.4 NP_689681.2 Q8IU68 TMC8_HUMAN transmembrane channel-like 8 489 endoplasmic reticulum membrane|integral to membrane breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 12 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192) GGATGGGCCTCTTCTACTGCC 0.612000 34 61 0 0 1 0 0 PLS1 5357 broad.mit.edu 37 3 142403175 142403175 + Missense_Mutation SNP G G T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr3:142403175G>T ENST00000337777.3 + 8 1039 c.826G>T c.(826-828)Gtg>Ttg p.V276L PLS1_ENST00000457734.2_Missense_Mutation_p.V276L|PLS1_ENST00000497002.1_Missense_Mutation_p.V276L NM_002670.2 NP_002661.2 Q14651 PLSI_HUMAN plastin 1 276 Actin-binding 1.|CH 2. cytoplasm actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 27 GCTGCGATGGGTGAACTACCA 0.413000 56 53 5.39261e-20 5.83314e-20 1 1 0 ZFYVE26 23503 broad.mit.edu 37 14 68264823 68264823 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr14:68264823C>T ENST00000347230.4 - 11 2294 c.2156G>A c.(2155-2157)aGa>aAa p.R719K ZFYVE26_ENST00000555452.1_Missense_Mutation_p.R719K NM_015346.3 NP_056161.2 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 719 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 94 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) CAGTCCATCTCTGCTTCCTGA 0.557000 62 71 0 0 1 0 0 TAS2R20 259295 broad.mit.edu 37 12 11150218 11150218 + Missense_Mutation SNP T T A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr12:11150218T>A ENST00000538986.1 - 1 256 c.257A>T c.(256-258)aAt>aTt p.N86I TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron NM_176889.2 NP_795370.2 P59543 T2R20_HUMAN taste receptor, type 2, member 20 86 sensory perception of taste integral to membrane G-protein coupled receptor activity breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 13 TGCCCAGGCATTAGAAATAAA 0.343000 62 56 0 0 1 0 0 ZNF678 339500 broad.mit.edu 37 1 227842637 227842637 + Missense_Mutation SNP G G C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr1:227842637G>C ENST00000343776.5 + 4 1031 c.686G>C c.(685-687)aGa>aCa p.R229T ZNF678_ENST00000397097.3_Missense_Mutation_p.R284T|ZNF678_ENST00000608949.1_Intron NM_178549.3 NP_848644.2 F5GXA7 F5GXA7_HUMAN zinc finger protein 678 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1) 24 Prostate(94;0.0885) CAACATAAGAGAATTCATACT 0.378000 41 221 0 0 1 0 0 CXCR2P1 3580 broad.mit.edu 37 2 218925481 218925481 + RNA SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr2:218925481G>A ENST00000439871.1 - 0 899 NR_002712.1 GCAGCGGCACGATGAAGCCAA 0.527000 31 20 0 0 1 0 0 CENPF 1063 broad.mit.edu 37 1 214825065 214825065 + Missense_Mutation SNP G G C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr1:214825065G>C ENST00000366955.3 + 15 8164 c.7996G>C c.(7996-7998)Gag>Cag p.E2666Q CENPF_ENST00000467765.1_3'UTR NM_016343.3 NP_057427.3 P49454 CENPF_HUMAN centromere protein F, 350/400kDa 2762 Sufficient for centromere localization.|Sufficient for self-association. cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1) 126 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) TCAATTGAAGGAGCTCACACT 0.348000 46 20 0 0 1 0 0 NYX 60506 broad.mit.edu 37 X 41333009 41333009 + Missense_Mutation SNP C C G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chrX:41333009C>G ENST00000342595.2 + 2 759 c.303C>G c.(301-303)atC>atG p.I101M NYX_ENST00000378220.1_Missense_Mutation_p.I101M NM_022567.2 NP_072089.1 Q9GZU5 NYX_HUMAN nyctalopin 101 Missing (in CSNB1A). response to stimulus|visual perception intracellular|proteinaceous extracellular matrix NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(11)|upper_aerodigestive_tract(1) 17 TGTCCTTCATCACGCCCGGCG 0.716000 2 6 0 0 1 0 0 MAPK15 225689 broad.mit.edu 37 8 144803252 144803252 + Missense_Mutation SNP G G C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr8:144803252G>C ENST00000338033.4 + 10 1119 c.1000G>C c.(1000-1002)Gag>Cag p.E334Q NM_139021.2 NP_620590.2 Q8TD08 MK15_HUMAN mitogen-activated protein kinase 15 334 protein autophosphorylation extracellular region ATP binding|MAP kinase activity|SH3 domain binding endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1) 12 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) CTCTGTGCCTGAGTACCGCAG 0.652000 4 27 0 0 1 0 0 DDX6 1656 broad.mit.edu 37 11 118625512 118625512 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr11:118625512C>T ENST00000264018.4 - 13 1666 c.1361G>A c.(1360-1362)gGa>gAa p.G454E DDX6_ENST00000534980.1_Missense_Mutation_p.G454E|DDX6_ENST00000526070.2_Missense_Mutation_p.G454E NM_004397.4 NP_004388.2 P26196 DDX6_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 6 454 Helicase C-terminal. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1) 13 all_hematologic(175;0.0839) Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103) OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377) AATTTCTGTTCCCAGCTGCTC 0.423000 T IGH@ B-NHL 31 55 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237794757 237794757 + Silent SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr1:237794757G>A ENST00000366574.2 + 42 6788 c.6471G>A c.(6469-6471)caG>caA p.Q2157Q RYR2_ENST00000360064.6_Silent_p.Q2155Q|RYR2_ENST00000542537.1_Silent_p.Q2141Q NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 2157 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TGTTTTACCAGCACCCTAATC 0.448000 33 28 0 0 1 0 0 ZNF587 84914 broad.mit.edu 37 19 58371262 58371262 + Silent SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr19:58371262C>T ENST00000339656.5 + 3 1664 c.1482C>T c.(1480-1482)tgC>tgT p.C494C ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF587_ENST00000423137.1_Silent_p.C493C|ZNF587_ENST00000419854.1_Silent_p.C451C NM_001204817.1|NM_032828.3 NP_001191746.1|NP_116217.1 Q96SQ5 ZN587_HUMAN zinc finger protein 587 494 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1) 15 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264) CGTATGAATGCAGTGAATGTG 0.413000 42 230 0 0 1 0 0 SERPINC1 462 broad.mit.edu 37 1 173881128 173881128 + Missense_Mutation SNP C C G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr1:173881128C>G ENST00000367698.3 - 3 551 c.433G>C c.(433-435)Gag>Cag p.E145Q SERPINC1_ENST00000494024.1_5'UTR NM_000488.3 NP_000479.1 P01008 ANT3_HUMAN serpin peptidase inhibitor, clade C (antithrombin), member 1 145 blood coagulation|regulation of proteolysis extracellular space|plasma membrane heparin binding|protease binding|serine-type endopeptidase inhibitor activity NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1) 25 Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109) GATGTTTTCTCAGATATGGTG 0.433000 43 115 0 0 1 0 0 SF1 7536 broad.mit.edu 37 11 64544068 64544068 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr11:64544068C>T ENST00000377390.3 - 2 399 c.62G>A c.(61-63)cGc>cAc p.R21H SF1_ENST00000433274.2_5'UTR|SF1_ENST00000377394.3_Missense_Mutation_p.R21H|SF1_ENST00000334944.5_Missense_Mutation_p.R21H|SF1_ENST00000227503.9_Missense_Mutation_p.R21H|SF1_ENST00000377387.1_Missense_Mutation_p.R146H|SF1_ENST00000422298.2_5'UTR NM_004630.3 NP_004621.2 Q15637 SF01_HUMAN splicing factor 1 21 nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent ribosome|spliceosomal complex protein binding|RNA binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2) 31 TTGGTTCCAGCGGCTCCTCTT 0.428000 41 71 0 0 1 0 0 WDR96 80217 broad.mit.edu 37 10 105927390 105927390 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr10:105927390C>T ENST00000357060.3 - 22 2912 c.2797G>A c.(2797-2799)Gag>Aag p.E933K WDR96_ENST00000428666.1_Missense_Mutation_p.E934K|WDR96_ENST00000278064.2_Missense_Mutation_p.E864K NM_025145.5 NP_079421.5 Q8NDM7 WDR96_HUMAN WD repeat domain 96 933 NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 TTAAGACACTCTGCTTCAATC 0.358000 17 40 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228399583 228399583 + Silent SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr1:228399583C>T ENST00000570156.2 + 2 173 c.99C>T c.(97-99)atC>atT p.I33I OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Silent_p.I33I|C1orf145_ENST00000295012.5_Intron|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.I33I NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 33 Ig-like 1. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GCTGCCAGATCGTGGGTAATC 0.692000 7 18 0 0 1 0 0 ADAMTS9 56999 broad.mit.edu 37 3 64607948 64607948 + Missense_Mutation SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr3:64607948G>A ENST00000498707.1 - 18 2954 c.2612C>T c.(2611-2613)cCa>cTa p.P871L ADAMTS9_ENST00000295903.4_Missense_Mutation_p.P843L NM_182920.1 NP_891550.1 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 9 871 Spacer. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 100 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) ATCTTCAATTGGAATATTGAA 0.438000 18 47 0 0 1 0 0 C10orf68 79741 broad.mit.edu 37 10 33000562 33000562 + Missense_Mutation SNP T T A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr10:33000562T>A ENST00000375030.2 + 10 1036 c.418T>A c.(418-420)Tca>Aca p.S140T C10orf68_ENST00000375028.3_Missense_Mutation_p.S108T|C10orf68_ENST00000375025.4_Missense_Mutation_p.S132T Q9H943 CJ068_HUMAN chromosome 10 open reading frame 68 132 breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4) 29 TGATGAAGAATCAGGTGAAAA 0.338000 11 57 0 0 1 0 0 PIGO 84720 broad.mit.edu 37 9 35094274 35094274 + Silent SNP G G T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr9:35094274G>T ENST00000378617.3 - 3 988 c.594C>A c.(592-594)tcC>tcA p.S198S PIGO_ENST00000298004.5_Silent_p.S198S|PIGO_ENST00000341666.3_Silent_p.S198S|PIGO_ENST00000361778.2_Silent_p.S198S NM_032634.3 NP_116023.2 Q8TEQ8 PIGO_HUMAN phosphatidylinositol glycan anchor biosynthesis, class O 198 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane transferase activity endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3) 38 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) TGACATTGAAGGATGGGAAGA 0.502000 12 32 6.44725e-10 6.82023e-10 1 1 0 PAX4 5078 broad.mit.edu 37 7 127255581 127255581 + Silent SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr7:127255581G>A ENST00000338516.3 - 2 17 c.18C>T c.(16-18)atC>atT p.I6I PAX4_ENST00000341640.2_5'UTR|PAX4_ENST00000378740.2_5'UTR|PAX4_ENST00000463946.1_5'UTR O43316 PAX4_HUMAN paired box 4 6 Paired. cell differentiation|endocrine pancreas development|organ morphogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 TCATGCTGCTGATCCCTGGGC 0.642000 9 73 0 0 1 0 0 TOMM70A 9868 broad.mit.edu 37 3 100105732 100105732 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr3:100105732C>T ENST00000284320.5 - 2 863 c.415G>A c.(415-417)Gag>Aag p.E139K NM_014820.4 NP_055635.3 O94826 TOM70_HUMAN translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae) 139 protein targeting to mitochondrion integral to membrane|mitochondrial outer membrane translocase complex protein binding|protein transmembrane transporter activity endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 32 CTAATAGCCTCAGTATAGCAC 0.383000 24 103 0 0 1 0 0 ATP6V1G2-DDX39B 100532737 broad.mit.edu 37 6 31513918 31513918 + Nonsense_Mutation SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr6:31513918G>A ENST00000376185.1 - 2 173 c.151C>T c.(151-153)Cga>Tga p.R51* ATP6V1G2_ENST00000376151.4_Intron|ATP6V1G2_ENST00000483170.1_5'UTR|ATP6V1G2_ENST00000303892.5_Nonsense_Mutation_p.R51*|ATP6V1G2-DDX39B_ENST00000475917.1_5'UTR|ATP6V1G2_ENST00000483251.1_Nonsense_Mutation_p.R10* TCGTGCTCTCGCTCTCTGCGG 0.582000 52 117 0 0 1 0 0 BCL11B 64919 broad.mit.edu 37 14 99641436 99641436 + Silent SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr14:99641436C>T ENST00000345514.2 - 3 1790 c.1524G>A c.(1522-1524)gcG>gcA p.A508A BCL11B_ENST00000357195.3_Silent_p.A579A|BCL11B_ENST00000443726.2_Silent_p.A385A NM_001282238.1|NM_022898.1 NP_001269167.1|NP_075049.1 Q9C0K0 BC11B_HUMAN B-cell CLL/lymphoma 11B (zinc finger protein) 579 nucleus zinc ion binding NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2) 34 Melanoma(154;0.0866)|all_epithelial(191;0.241) COAD - Colon adenocarcinoma(157;0.103) cgccgccccccgcgcccggga 0.721000 T TLX3 T-ALL 8 19 0 0 1 0 0 INO80D 54891 broad.mit.edu 37 2 206869542 206869542 + Silent SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr2:206869542C>T ENST00000403263.1 - 11 3038 c.2634G>A c.(2632-2634)gtG>gtA p.V878V NM_017759.4 NP_060229.3 Q53TQ3 IN80D_HUMAN INO80 complex subunit D 610 DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2) 26 CTCCAAGTGGCACCTCAAGTT 0.547000 21 35 0 0 1 0 0 MAD1L1 8379 broad.mit.edu 37 7 2188842 2188842 + Missense_Mutation SNP C C G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr7:2188842C>G ENST00000406869.1 - 11 1575 c.1018G>C c.(1018-1020)Gag>Cag p.E340Q MAD1L1_ENST00000402746.1_Missense_Mutation_p.E248Q|MAD1L1_ENST00000265854.7_Missense_Mutation_p.E340Q|MAD1L1_ENST00000399654.2_Missense_Mutation_p.E340Q Q9Y6D9 MD1L1_HUMAN MAD1 mitotic arrest deficient-like 1 (yeast) 340 cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle protein binding central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5) 36 Ovarian(82;0.0272) UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14) TGCTGCAGCTCAACCACGAAT 0.547000 12 34 0 0 1 0 0 ATXN7L2 127002 broad.mit.edu 37 1 110031674 110031674 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr1:110031674C>T ENST00000369870.3 + 7 1004 c.989C>T c.(988-990)aCc>aTc p.T330I NM_153340.4 NP_699171.3 Q5T6C5 AT7L2_HUMAN ataxin 7-like 2 330 breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1) 17 all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453) Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228) CCCAGCAGCACCTTCTCTGTT 0.617000 87 26 0 0 1 0 0 CDH10 1008 broad.mit.edu 37 5 24509787 24509787 + Missense_Mutation SNP G G C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr5:24509787G>C ENST00000264463.4 - 7 1651 c.1144C>G c.(1144-1146)Cct>Gct p.P382A NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 382 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 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) CTAAAAACAGGAGGTTCATCC 0.393000 HNSCC(23;0.051) 17 124 0 0 1 0 0 MPDZ 8777 broad.mit.edu 37 9 13119644 13119644 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr9:13119644C>T ENST00000319217.7 - 39 5483 c.5236G>A c.(5236-5238)Gat>Aat p.D1746N MPDZ_ENST00000546205.1_Missense_Mutation_p.D1760N|MPDZ_ENST00000538841.1_Missense_Mutation_p.D605N|MPDZ_ENST00000541718.1_Missense_Mutation_p.D1746N|MPDZ_ENST00000381015.4_Missense_Mutation_p.D1746N|MPDZ_ENST00000536827.1_Missense_Mutation_p.D1713N|MPDZ_ENST00000541093.1_5'UTR|MPDZ_ENST00000447879.1_Missense_Mutation_p.D1713N|MPDZ_ENST00000381022.2_Missense_Mutation_p.D1746N NM_001261406.1 NP_001248335.1 O75970 MPDZ_HUMAN multiple PDZ domain protein 1746 PDZ 11. interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2) 61 GBM - Glioblastoma multiforme(50;2.03e-06) ACTCCAGTATCGTTTCTACAC 0.348000 9 58 0 0 1 0 0 BSN 8927 broad.mit.edu 37 3 49698687 49698687 + Missense_Mutation SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr3:49698687G>A ENST00000296452.4 + 6 9523 c.9409G>A c.(9409-9411)Gat>Aat p.D3137N NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 3137 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) AGTCCCCGCTGATAGCCGTGC 0.622000 15 44 0 0 1 0 0 NELL2 4753 broad.mit.edu 37 12 45173749 45173749 + Nonsense_Mutation SNP G G C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr12:45173749G>C ENST00000429094.2 - 4 896 c.392C>G c.(391-393)tCa>tGa p.S131* NELL2_ENST00000437801.2_Nonsense_Mutation_p.S181*|NELL2_ENST00000452445.2_Nonsense_Mutation_p.S131*|NELL2_ENST00000333837.4_Nonsense_Mutation_p.S154*|NELL2_ENST00000549027.1_Nonsense_Mutation_p.S130*|NELL2_ENST00000395487.2_Nonsense_Mutation_p.S130*|NELL2_ENST00000551601.1_Nonsense_Mutation_p.S130*|NELL2_ENST00000547172.1_5'UTR NM_001145108.1 NP_001138580.1 Q99435 NELL2_HUMAN NEL-like 2 (chicken) 131 TSP N-terminal. cell adhesion extracellular region calcium ion binding|protein binding|structural molecule activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 Lung SC(27;0.192) Lung NSC(34;0.144) GBM - Glioblastoma multiforme(48;0.092) GTGACTGCCTGAGCGGTAATG 0.468000 28 132 0 0 1 0 0 BCL9L 283149 broad.mit.edu 37 11 118779098 118779098 + Missense_Mutation SNP T T C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr11:118779098T>C ENST00000334801.3 - 2 1257 c.293A>G c.(292-294)cAg>cGg p.Q98R BCL9L_ENST00000526143.1_5'UTR NM_182557.2 NP_872363.1 Q86UU0 BCL9L_HUMAN B-cell CLL/lymphoma 9-like 98 negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription coactivator activity NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 56 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.66e-05) CACCCCTGCCTGGGGGTTCTT 0.647000 28 42 0 0 1 0 0 HSPG2 3339 broad.mit.edu 37 1 22202880 22202880 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr1:22202880C>T ENST00000374695.3 - 23 2924 c.2845G>A c.(2845-2847)Gag>Aag p.E949K NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 949 Laminin IV type A 2. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) TGACCAGGCTCCTCAGAGGCC 0.667000 4 16 0 0 1 0 0 SYNGR2 9144 broad.mit.edu 37 17 76167089 76167089 + Silent SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr17:76167089C>T ENST00000225777.3 + 2 350 c.291C>T c.(289-291)aaC>aaT p.N97N SYNGR2_ENST00000585591.1_Silent_p.N97N|SYNGR2_ENST00000592456.1_3'UTR|SYNGR2_ENST00000589711.1_Intron|SYNGR2_ENST00000590201.1_Silent_p.N41N|SYNGR2_ENST00000588282.1_Silent_p.N97N O43760 SNG2_HUMAN synaptogyrin 2 97 MARVEL. integral to plasma membrane endometrium(2)|large_intestine(1)|liver(1)|lung(1)|skin(1)|urinary_tract(1) 7 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.0994) AGATCAGCAACGCCACTGACC 0.582000 17 65 0 0 1 0 0 NDUFS6 4726 broad.mit.edu 37 5 1801637 1801637 + Missense_Mutation SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr5:1801637G>A ENST00000274137.5 + 1 124 c.106G>A c.(106-108)Ggg>Agg p.G36R NDUFS6_ENST00000510329.1_3'UTR|NDUFS6_ENST00000469176.1_Missense_Mutation_p.G36R NM_004553.4 NP_004544.1 O75380 NDUS6_HUMAN NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase) 36 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I electron carrier activity|NADH dehydrogenase (ubiquinone) activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1) 7 NADH(DB00157) CTCGCCGACCGGGGAGAAGGT 0.721000 11 9 0 0 1 0 0 ZNF232 7775 broad.mit.edu 37 17 5009425 5009425 + Silent SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr17:5009425G>A ENST00000250076.3 - 5 1683 c.1029C>T c.(1027-1029)agC>agT p.S343S ZNF232_ENST00000416429.2_3'UTR|ZNF232_ENST00000575898.1_Silent_p.S334S NM_014519.2 NP_055334.2 Q9UNY5 ZN232_HUMAN zinc finger protein 232 316 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2) 11 CGAGGTTTGAGCTCTGTTTGA 0.433000 11 206 0 0 1 0 0 IWS1 55677 broad.mit.edu 37 2 128253576 128253576 + Missense_Mutation SNP C C G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr2:128253576C>G ENST00000295321.4 - 7 1973 c.1714G>C c.(1714-1716)Gag>Cag p.E572Q AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000455721.2_3'UTR NM_017969.2 NP_060439.2 Q96ST2 IWS1_HUMAN IWS1 homolog (S. cerevisiae) 572 transcription, DNA-dependent nucleus DNA binding cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 28 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0735) CAGCTCACCTCAGCAGCTTCA 0.468000 119 85 0 0 1 0 0 CYP4F11 57834 broad.mit.edu 37 19 16038102 16038102 + Missense_Mutation SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr19:16038102G>A ENST00000402119.4 - 4 871 c.445C>T c.(445-447)Cgg>Tgg p.R149W CYP4F11_ENST00000326742.8_Missense_Mutation_p.R149W|CYP4F11_ENST00000591841.1_5'UTR|CYP4F11_ENST00000248041.8_Missense_Mutation_p.R149W NM_021187.3 NP_067010.3 Q9HBI6 CP4FB_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 11 inflammatory response|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding p.R149W(1) NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3) 25 GTCAACATCCGACGGTGGCGG 0.537000 10 131 0 0 1 0 0 ZC3H11A 9877 broad.mit.edu 37 1 203798669 203798669 + Missense_Mutation SNP A A G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr1:203798669A>G ENST00000545588.1 + 5 4216 c.389A>G c.(388-390)aAt>aGt p.N130S ZC3H11A_ENST00000332127.4_Missense_Mutation_p.N130S|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.N130S|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.N130S|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.N130S NM_001271675.1 NP_001258604.1 O75152 ZC11A_HUMAN zinc finger CCCH-type containing 11A 130 nucleic acid binding|protein binding|zinc ion binding central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 all_cancers(21;0.0904)|all_epithelial(62;0.234) BRCA - Breast invasive adenocarcinoma(75;0.109) GTCCAGTCCAATCCTTCCCCT 0.483000 121 55 0 0 1 0 0 RACGAP1 29127 broad.mit.edu 37 12 50390835 50390835 + Silent SNP G G C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr12:50390835G>C ENST00000434422.1 - 11 1333 c.1032C>G c.(1030-1032)gtC>gtG p.V344V RACGAP1_ENST00000551016.1_Silent_p.V344V|RACGAP1_ENST00000312377.5_Silent_p.V344V|RACGAP1_ENST00000454520.2_Silent_p.V344V|RACGAP1_ENST00000547905.1_Silent_p.V344V|RACGAP1_ENST00000427314.2_Silent_p.V344V Q9H0H5 RGAP1_HUMAN Rac GTPase activating protein 1 344 blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6) 14 CTCCAATCTTGACAGGTGTTC 0.443000 22 78 0 0 1 0 0 FBXO42 54455 broad.mit.edu 37 1 16579618 16579618 + Silent SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr1:16579618G>A ENST00000375592.3 - 8 1110 c.894C>T c.(892-894)atC>atT p.I298I NM_018994.1 NP_061867.1 Q6P3S6 FBX42_HUMAN F-box protein 42 298 autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 26 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693) ACCCTCCGAGGATTAAGATAG 0.438000 41 16 0 0 1 0 0 BAIAP2L1 55971 broad.mit.edu 37 7 97944889 97944889 + Silent SNP G G T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr7:97944889G>T ENST00000005260.8 - 7 737 c.522C>A c.(520-522)atC>atA p.I174I BAIAP2L1_ENST00000462558.1_5'UTR NM_018842.4 NP_061330.2 Q9UHR4 BI2L1_HUMAN BAI1-associated protein 2-like 1 174 IMD. filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction cell junction|cytoskeleton|cytosol|nucleus actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1) 23 all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126) STAD - Stomach adenocarcinoma(171;0.215) TGAATTTCTGGATTTCACTCT 0.383000 35 119 2.20262e-25 2.4097e-25 1 1 0 RBCK1 10616 broad.mit.edu 37 20 390664 390664 + Silent SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr20:390664C>T ENST00000356286.5 + 2 867 c.162C>T c.(160-162)gaC>gaT p.D54D RBCK1_ENST00000400245.3_3'UTR|RBCK1_ENST00000475269.1_Silent_p.D54D|RBCK1_ENST00000400247.3_Intron|RBCK1_ENST00000353660.3_Intron|RBCK1_ENST00000382181.2_Intron NM_031229.2 NP_112506.2 Q9BYM8 HOIL1_HUMAN RanBP-type and C3HC4-type zinc finger containing 1 54 Interaction with IRF3.|Interaction with TAB2. interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway LUBAC complex protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding kidney(1)|lung(4) 5 all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231) CAACGCAGGACATCAGGTGAG 0.567000 24 41 0 0 1 0 0 HTR3A 3359 broad.mit.edu 37 11 113856847 113856847 + Missense_Mutation SNP C C T rs139246177 TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr11:113856847C>T ENST00000504030.2 + 6 1100 c.655C>T c.(655-657)Cgg>Tgg p.R219W HTR3A_ENST00000299961.5_Missense_Mutation_p.R204W|HTR3A_ENST00000355556.2_Missense_Mutation_p.R225W|HTR3A_ENST00000535865.1_Intron|HTR3A_ENST00000506841.2_Missense_Mutation_p.R219W|HTR3A_ENST00000375498.2_Missense_Mutation_p.R225W P46098 5HT3A_HUMAN 5-hydroxytryptamine (serotonin) receptor 3A, ionotropic 219 digestion|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity p.R219W(1) central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 36 all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191) Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199) GCCCTACTTTCGGGAGTTCAG 0.478000 53 131 0 0 1 0 0 SUPT6H 6830 broad.mit.edu 37 17 27000441 27000441 + Missense_Mutation SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr17:27000441G>A ENST00000314616.6 + 2 305 c.22G>A c.(22-24)Gag>Aag p.E8K SUPT6H_ENST00000347486.4_Missense_Mutation_p.E8K NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 8 Asp/Glu-rich. chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) TGTGGAAAGCGAGGCTGAGGA 0.468000 9 36 0 0 1 0 0 WNK4 65266 broad.mit.edu 37 17 40939370 40939370 + Silent SNP C C A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr17:40939370C>A ENST00000246914.5 + 7 1572 c.1551C>A c.(1549-1551)atC>atA p.I517I WNK4_ENST00000587705.1_3'UTR NM_032387.4 NP_115763.2 Q96J92 WNK4_HUMAN WNK lysine deficient protein kinase 4 517 intracellular protein kinase cascade tight junction ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1) 35 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.0749) TTGCTGCCATCCAGCGAAAGC 0.617000 32 34 6.04164e-23 6.57221e-23 1 1 0 SLC35B3 51000 broad.mit.edu 37 6 8417151 8417151 + Missense_Mutation SNP C C G rs145512512 TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr6:8417151C>G ENST00000379660.4 - 9 1400 c.951G>C c.(949-951)ttG>ttC p.L317F NM_001142540.1|NM_001142541.1|NM_015948.3 NP_001136012.1|NP_001136013.1|NP_057032.2 Q9H1N7 S35B3_HUMAN solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B3 317 transmembrane transport Golgi membrane|integral to membrane breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(1)|prostate(1) 15 Ovarian(93;0.0569) AAATTTTAATCAAAGCCAGAA 0.348000 45 65 0 0 1 0 0 TULP1 7287 broad.mit.edu 37 6 35471368 35471368 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr6:35471368C>T ENST00000229771.6 - 13 1370 c.1291G>A c.(1291-1293)Gag>Aag p.E431K TULP1_ENST00000322263.4_Missense_Mutation_p.E378K NM_003322.3 NP_003313.3 O00294 TULP1_HUMAN tubby like protein 1 431 dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse actin filament binding|phosphatidylinositol-4,5-bisphosphate binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 19 CTCTCGTTCTCCGCACTCATG 0.637000 2 5 0 0 1 0 0 MYO3B 140469 broad.mit.edu 37 2 171356164 171356164 + Silent SNP C C G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr2:171356164C>G ENST00000334231.6 + 27 3162 c.3162C>G c.(3160-3162)ctC>ctG p.L1054L MYO3B_ENST00000408978.4_Silent_p.L1045L|MYO3B_ENST00000409044.3_Silent_p.L1045L|MYO3B_ENST00000602629.1_Intron Q8WXR4 MYO3B_HUMAN myosin IIIB 1045 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 AGGTTTTTCTCAAATATTACC 0.388000 9 60 0 0 1 0 0 PIK3CD 5293 broad.mit.edu 37 1 9775949 9775949 + Missense_Mutation SNP A A G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr1:9775949A>G ENST00000536656.1 + 5 621 c.413A>G c.(412-414)gAc>gGc p.D138G PIK3CD_ENST00000377346.4_Missense_Mutation_p.D138G|PIK3CD_ENST00000361110.2_Missense_Mutation_p.D138G O00329 PK3CD_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta 138 phosphatidylinositol-mediated signaling|protein phosphorylation phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 31 all_lung(157;0.222) all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419) GAAGTGAACGACTTTCGCGCC 0.687000 9 38 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140348753 140348753 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr5:140348753C>T ENST00000289269.5 + 1 2934 c.2402C>T c.(2401-2403)tCa>tTa p.S801L PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron NM_018899.5|NM_031883.2 NP_061722.1|NP_114089.1 Q9Y5I4 PCDC2_HUMAN 801 homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACAGCAGGCTCAGGGAGTGAC 0.552000 28 54 0 0 1 0 0 C8orf34 116328 broad.mit.edu 37 8 69358639 69358639 + Nonsense_Mutation SNP C C G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr8:69358639C>G ENST00000337103.4 + 2 1810 c.218C>G c.(217-219)tCa>tGa p.S73* C8orf34_ENST00000348340.2_Nonsense_Mutation_p.S98*|C8orf34_ENST00000539993.1_Nonsense_Mutation_p.S98*|C8orf34_ENST00000523686.1_Nonsense_Mutation_p.S98*|C8orf34_ENST00000349492.3_3'UTR|C8orf34_ENST00000518698.1_Nonsense_Mutation_p.S184* Q49A92 CH034_HUMAN chromosome 8 open reading frame 34 98 signal transduction cAMP-dependent protein kinase regulator activity NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 36 Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502) CCTAAAAAATCAAAAAGTGAC 0.328000 6 77 0 0 1 0 0 CREB3 10488 broad.mit.edu 37 9 35735135 35735135 + Silent SNP G G C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr9:35735135G>C ENST00000353704.2 + 5 903 c.465G>C c.(463-465)cgG>cgC p.R155R CREB3_ENST00000486056.1_3'UTR NM_006368.4 NP_006359.3 O43889 CREB3_HUMAN cAMP responsive element binding protein 3 179 chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|positive regulation of transcription, DNA-dependent|reactivation of latent virus|regulation of cell proliferation cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|nucleus cAMP response element binding protein binding|CCR1 chemokine receptor binding|DNA binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|urinary_tract(1) 9 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) GBM - Glioblastoma multiforme(74;0.0285) AACGTGTGCGGAGGAAGATTC 0.443000 30 28 0 0 1 0 0 ADRBK1 156 broad.mit.edu 37 11 67051208 67051208 + Silent SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr11:67051208C>T ENST00000308595.5 + 16 1649 c.1359C>T c.(1357-1359)ttC>ttT p.F453F ADRBK1_ENST00000527176.1_3'UTR|ADRBK1_ENST00000526285.1_Intron NM_001619.3 NP_001610.2 P25098 ARBK1_HUMAN adrenergic, beta, receptor kinase 1 453 Protein kinase. activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway cytosol|soluble fraction alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2) 22 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) Adenosine triphosphate(DB00171) GCCCCTTTTTCCGCTCCCTGG 0.617000 20 80 0 0 1 0 0 TMEM63A 9725 broad.mit.edu 37 1 226055673 226055673 + Silent SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr1:226055673C>T ENST00000366835.3 - 7 699 c.429G>A c.(427-429)caG>caA p.Q143Q NM_014698.2 NP_055513.2 O94886 TM63A_HUMAN transmembrane protein 63A 143 integral to membrane|lysosomal membrane nucleotide binding breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 24 Breast(184;0.197) TGATGTGCCTCTGGAAGGACA 0.542000 52 46 0 0 1 0 0 ST7 7982 broad.mit.edu 37 7 116869839 116869839 + Silent SNP C C G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr7:116869839C>G ENST00000393443.1 + 16 2042 c.1428C>G c.(1426-1428)ccC>ccG p.P476P ST7_ENST00000393444.3_Silent_p.P488P|ST7_ENST00000393451.3_Silent_p.P531P|ST7_ENST00000432298.1_Silent_p.P508P|ST7_ENST00000393449.1_Silent_p.P549P|ST7_ENST00000323984.3_Silent_p.P554P|ST7_ENST00000393446.2_Silent_p.P500P|ST7_ENST00000422922.1_Silent_p.P485P|ST7_ENST00000393447.4_Silent_p.P511P Q9NRC1 ST7_HUMAN suppression of tumorigenicity 7 0 integral to membrane binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1) 21 all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847) STAD - Stomach adenocarcinoma(10;0.000512) LUSC - Lung squamous cell carcinoma(290;0.133) TGTTTGCCCCCTTAAACTTTG 0.498000 89 448 0 0 1 0 0 AFF3 3899 broad.mit.edu 37 2 100209756 100209756 + Missense_Mutation SNP C C G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr2:100209756C>G ENST00000409236.2 - 13 2479 c.2367G>C c.(2365-2367)ttG>ttC p.L789F AFF3_ENST00000356421.2_Missense_Mutation_p.L814F|AFF3_ENST00000317233.4_Missense_Mutation_p.L789F|AFF3_ENST00000409579.1_Missense_Mutation_p.L814F P51826 AFF3_HUMAN AF4/FMR2 family, member 3 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3) 86 CAGGGGCGCTCAATACCCCTG 0.577000 22 40 0 0 1 0 0 MON2 23041 broad.mit.edu 37 12 62887746 62887746 + Missense_Mutation SNP G G T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr12:62887746G>T ENST00000393630.3 + 3 618 c.227G>T c.(226-228)gGa>gTa p.G76V MON2_ENST00000552738.1_Missense_Mutation_p.G76V|MON2_ENST00000552115.1_Missense_Mutation_p.G76V|MON2_ENST00000393632.2_Missense_Mutation_p.G76V|MON2_ENST00000393629.2_Missense_Mutation_p.G76V|MON2_ENST00000546600.1_Missense_Mutation_p.G76V|MON2_ENST00000280379.6_Missense_Mutation_p.G76V|MON2_ENST00000549378.1_Intron NM_001278470.1|NM_001278472.1 NP_001265399.1|NP_001265401.1 Q7Z3U7 MON2_HUMAN MON2 homolog (S. cerevisiae) 76 Golgi to endosome transport|protein transport cytoplasm ARF guanyl-nucleotide exchange factor activity|binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 57 BRCA - Breast invasive adenocarcinoma(9;0.218) GBM - Glioblastoma multiforme(28;0.128) ATGGGTTGTGGAACCAAGGAA 0.348000 4 36 1 1 1 1 0 SUSD2 56241 broad.mit.edu 37 22 24579560 24579560 + Missense_Mutation SNP A A T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr22:24579560A>T ENST00000358321.3 + 3 646 c.385A>T c.(385-387)Act>Tct p.T129S NM_019601.3 NP_062547.1 Q9UGT4 SUSD2_HUMAN sushi domain containing 2 129 immune response integral to membrane polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 26 CATCCCCTTCACTGTGTCACT 0.642000 45 30 0 0 1 0 0 ANK2 287 broad.mit.edu 37 4 114251565 114251565 + Missense_Mutation SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr4:114251565G>A ENST00000357077.4 + 27 3117 c.3064G>A c.(3064-3066)Gaa>Aaa p.E1022K ANK2_ENST00000264366.6_Missense_Mutation_p.E1022K|ANK2_ENST00000509550.1_Missense_Mutation_p.E231K|ANK2_ENST00000506722.1_Missense_Mutation_p.E1013K|ANK2_ENST00000394537.3_Missense_Mutation_p.E1022K NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 1021 Interaction with SPTBN1.|ZU5. 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) TCCAATGGTGGAAGGAGAAGG 0.537000 39 17 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41465774 41465774 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr21:41465774C>T ENST00000400454.1 - 21 4201 c.3724G>A c.(3724-3726)Gac>Aac p.D1242N NM_001271534.1|NM_001389.3 NP_001258463.1|NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 1242 Fibronectin type-III 4. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding p.D1242N(1) NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) GAAAACGAGTCGGGAGAGGCC 0.478000 21 41 0 0 1 0 0 GABRG1 2565 broad.mit.edu 37 4 46099350 46099350 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr4:46099350C>T ENST00000295452.4 - 2 288 c.121G>A c.(121-123)Gat>Aat p.D41N NM_173536.3 NP_775807.2 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 1 41 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) TCATCTTCATCATCTGCCTTA 0.328000 60 58 0 0 1 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77356322 77356322 + Missense_Mutation SNP C C G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr16:77356322C>G ENST00000282849.5 - 14 2492 c.2074G>C c.(2074-2076)Gaa>Caa p.E692Q NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 692 Cys-rich. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 AAAAAAAATTCAAAGTTCTCA 0.393000 17 102 0 0 1 0 0 IL23R 149233 broad.mit.edu 37 1 67666498 67666498 + Silent SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr1:67666498G>A ENST00000347310.5 + 5 741 c.570G>A c.(568-570)aaG>aaA p.K190K C1orf141_ENST00000371007.2_Intron|IL23R_ENST00000371002.1_Silent_p.K190K NM_144701.2 NP_653302.2 Q5VWK5 IL23R_HUMAN interleukin 23 receptor 190 Fibronectin type-III 1. inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide interleukin-23 receptor complex receptor activity breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 21 AAGGTGGCAAGAAGTACTTGG 0.373000 80 44 0 0 1 0 0 SUCLG1 8802 broad.mit.edu 37 2 84670479 84670479 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr2:84670479C>T ENST00000393868.2 - 3 457 c.247G>A c.(247-249)Gtt>Att p.V83I NM_003849.3 NP_003840.2 P53597 SUCA_HUMAN succinate-CoA ligase, alpha subunit 83 tricarboxylic acid cycle ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity kidney(4)|large_intestine(4)|lung(2) 10 Succinic acid(DB00139) GTTCCTCCAACGAGTTTGGTG 0.498000 47 29 0 0 1 0 0 PIGO 84720 broad.mit.edu 37 9 35094283 35094283 + Missense_Mutation SNP G G T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr9:35094283G>T ENST00000378617.3 - 3 979 c.585C>A c.(583-585)ttC>ttA p.F195L PIGO_ENST00000298004.5_Missense_Mutation_p.F195L|PIGO_ENST00000341666.3_Missense_Mutation_p.F195L|PIGO_ENST00000361778.2_Missense_Mutation_p.F195L NM_032634.3 NP_116023.2 Q8TEQ8 PIGO_HUMAN phosphatidylinositol glycan anchor biosynthesis, class O 195 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane transferase activity endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3) 38 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) AGGATGGGAAGAAGAAAGCTT 0.498000 10 30 4.35082e-09 4.56479e-09 1 1 0 EFCAB5 374786 broad.mit.edu 37 17 28405274 28405274 + Missense_Mutation SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr17:28405274G>A ENST00000394835.3 + 15 2971 c.2779G>A c.(2779-2781)Gaa>Aaa p.E927K EFCAB5_ENST00000394832.2_Intron|EFCAB5_ENST00000320856.5_Missense_Mutation_p.E803K NM_198529.3 NP_940931 A4FU69 EFCB5_HUMAN EF-hand calcium binding domain 5 927 calcium ion binding breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 43 CCCTGGTCACGAAGTGAGATT 0.413000 25 71 0 0 1 0 0 SEMA6D 80031 broad.mit.edu 37 15 48057100 48057100 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr15:48057100C>T ENST00000316364.5 + 13 1713 c.1274C>T c.(1273-1275)tCa>tTa p.S425L SEMA6D_ENST00000355997.3_Missense_Mutation_p.S425L|SEMA6D_ENST00000537942.1_Missense_Mutation_p.S425L|SEMA6D_ENST00000358066.4_Missense_Mutation_p.S425L|SEMA6D_ENST00000536845.2_Missense_Mutation_p.S425L|SEMA6D_ENST00000389433.2_Missense_Mutation_p.S425L|SEMA6D_ENST00000354744.4_Missense_Mutation_p.S425L|SEMA6D_ENST00000389428.3_Missense_Mutation_p.S425L|SEMA6D_ENST00000558014.1_Missense_Mutation_p.S425L|SEMA6D_ENST00000389425.3_Missense_Mutation_p.S425L|SEMA6D_ENST00000389432.2_Missense_Mutation_p.S425L|SEMA6D_ENST00000558816.1_Missense_Mutation_p.S425L NM_153618.1 NP_705871.1 Q8NFY4 SEM6D_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D 425 Sema. axon guidance cytoplasm|integral to membrane|plasma membrane receptor activity biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 77 all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18) all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06) ACGGCCATCTCAGTGGACCAT 0.512000 22 60 0 0 1 0 0 TAF2 6873 broad.mit.edu 37 8 120770342 120770342 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr8:120770342C>T ENST00000378164.2 - 21 3037 c.2739G>A c.(2737-2739)atG>atA p.M913I TAF2_ENST00000519355.1_5'UTR NM_003184.3 NP_003175 Q6P1X5 TAF2_HUMAN TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa 913 G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor TFIID complex|transcription factor TFTC complex metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 49 Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) CATTCTGAATCATATTAAGTA 0.284000 17 155 0 0 1 0 0 FBF1 85302 broad.mit.edu 37 17 73924184 73924184 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr17:73924184C>T ENST00000586717.1 - 7 601 c.328G>A c.(328-330)Gag>Aag p.E110K FBF1_ENST00000319129.5_Missense_Mutation_p.E110K|FBF1_ENST00000389570.4_Missense_Mutation_p.E110K A6NLR5 A6NLR5_HUMAN Fas (TNFRSF6) binding factor 1 110 large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1) 4 TTGGGCAGCTCTCCTTTCCCA 0.537000 5 38 0 0 1 0 0 SPACA3 124912 broad.mit.edu 37 17 31324482 31324482 + Silent SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr17:31324482C>T ENST00000580599.1 + 5 724 c.315C>T c.(313-315)ctC>ctT p.L105L SPACA3_ENST00000394637.2_3'UTR|SPACA3_ENST00000269053.3_Silent_p.L174L|SPACA3_ENST00000394638.1_Silent_p.L71L Q8IXA5 SACA3_HUMAN sperm acrosome associated 3 174 cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus acrosomal membrane|extracellular region|integral to membrane|lysosome bacterial cell surface binding|lysozyme activity|protein binding breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(9;0.193) ATCCTAATCTCAAGGATACCG 0.493000 56 102 0 0 1 0 0 SIRT1 23411 broad.mit.edu 37 10 69672769 69672769 + Missense_Mutation SNP G G C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr10:69672769G>C ENST00000212015.6 + 8 1949 c.1896G>C c.(1894-1896)caG>caC p.Q632H SIRT1_ENST00000403579.1_Missense_Mutation_p.Q329H|SIRT1_ENST00000406900.1_Missense_Mutation_p.Q329H|SIRT1_ENST00000432464.1_Missense_Mutation_p.Q337H NM_012238.4 NP_036370.2 Q96EB6 SIRT1_HUMAN sirtuin 1 632 apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|DNA repair|DNA replication|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|positive regulation of DNA repair|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|rRNA processing|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|PML body|rDNA heterochromatin bHLH transcription factor binding|histone binding|HLH domain binding|identical protein binding|mitogen-activated protein kinase binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1) 14 CAAAGGAGCAGATTAGTAGGC 0.393000 18 54 0 0 1 0 0 IKZF4 64375 broad.mit.edu 37 12 56427078 56427078 + Nonsense_Mutation SNP A A T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr12:56427078A>T ENST00000262032.5 + 11 1337 c.970A>T c.(970-972)Aag>Tag p.K324* IKZF4_ENST00000547167.1_Nonsense_Mutation_p.K324*|RP11-603J24.4_ENST00000551846.1_RNA|IKZF4_ENST00000431367.2_Nonsense_Mutation_p.K222*|IKZF4_ENST00000547791.1_Nonsense_Mutation_p.K279* Q9H2S9 IKZF4_HUMAN IKAROS family zinc finger 4 (Eos) 324 negative regulation of transcription, DNA-dependent nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1) 8 UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123) CACCAAACGCAAGCGTTCCAC 0.502000 26 247 0 0 1 0 0 BAZ1A 11177 broad.mit.edu 37 14 35227931 35227931 + Missense_Mutation SNP C C G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr14:35227931C>G ENST00000360310.1 - 25 4932 c.4365G>C c.(4363-4365)ttG>ttC p.L1455F BAZ1A_ENST00000358716.4_Missense_Mutation_p.L1423F|BAZ1A_ENST00000382422.2_Missense_Mutation_p.L1455F NM_013448.2 NP_038476.2 Q9NRL2 BAZ1A_HUMAN bromodomain adjacent to zinc finger domain, 1A 1455 Bromo. chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent ACF complex zinc ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 Breast(36;0.0388)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175) GBM - Glioblastoma multiforme(112;0.0659) AAACAAGTTTCAAAAAAGGCC 0.373000 24 62 0 0 1 0 0 ZNF831 128611 broad.mit.edu 37 20 57767194 57767194 + Missense_Mutation SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr20:57767194G>A ENST00000371030.2 + 1 1120 c.1120G>A c.(1120-1122)Gag>Aag p.E374K NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 374 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) CGCCGAGTCCGAGGGGGAggg 0.761000 6 12 0 0 1 0 0 LEPREL2 10536 broad.mit.edu 37 12 6948245 6948245 + RNA SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr12:6948245C>T ENST00000251761.8 + 0 2020 LEPREL2_ENST00000606935.1_RNA|LEPREL2_ENST00000396725.2_RNA NM_014262.3 NP_055077.2 leprecan-like 2 breast(1)|cervix(1)|endometrium(2)|lung(6) 10 GGCCGTGACTCGGGGACGGCG 0.677000 6 25 0 0 1 0 0 MAST1 22983 broad.mit.edu 37 19 12975882 12975882 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr19:12975882C>T ENST00000251472.4 + 14 1567 c.1528C>T c.(1528-1530)Cac>Tac p.H510Y NM_014975.2 NP_055790.1 Q9Y2H9 MAST1_HUMAN microtubule associated serine/threonine kinase 1 510 Protein kinase. cytoskeleton organization|intracellular protein kinase cascade cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3) 56 CTCCATGGGTCACATCAAGCT 0.577000 9 82 0 0 1 0 0 LHFP 10186 broad.mit.edu 37 13 39918097 39918097 + Missense_Mutation SNP C C G rs142420975 TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr13:39918097C>G ENST00000379589.3 - 4 1041 c.579G>C c.(577-579)aaG>aaC p.K193N NM_005780.2 NP_005771.1 Q9Y693 LHFP_HUMAN lipoma HMGIC fusion partner 193 integral to membrane DNA binding HMGA2/LHFP(2) breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(6)|prostate(2) 13 Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114) OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105) GCTTCTGTTTCTTGCCCGAAA 0.557000 T HMGA2 lipoma 45 43 0 0 1 0 0 BCL9 607 broad.mit.edu 37 1 147095710 147095710 + Silent SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr1:147095710C>T ENST00000234739.3 + 10 3971 c.3231C>T c.(3229-3231)ctC>ctT p.L1077L NM_004326.2 NP_004317.2 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 1077 Pro-rich. Wnt receptor signaling pathway nucleus protein binding breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 7 all_hematologic(923;0.115) TGCCAACCCTCAGCCCAATGG 0.493000 T """IGH@, IGL@""" B-ALL 104 219 0 0 1 0 0 ATXN2L 11273 broad.mit.edu 37 16 28840778 28840778 + Silent SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr16:28840778G>A ENST00000336783.4 + 7 965 c.798G>A c.(796-798)gtG>gtA p.V266V ATXN2L_ENST00000340394.8_Silent_p.V266V|ATXN2L_ENST00000382686.4_Silent_p.V266V|ATXN2L_ENST00000395547.2_Silent_p.V266V|ATXN2L_ENST00000564304.1_Silent_p.V266V|ATXN2L_ENST00000570200.1_Silent_p.V266V|ATXN2L_ENST00000325215.6_Silent_p.V266V NM_007245.3 NP_009176.2 Q8WWM7 ATX2L_HUMAN ataxin 2-like 266 membrane breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 ACTACGGTGTGAAGACTACCT 0.458000 6 58 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9015637 9015637 + Missense_Mutation SNP C C G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr19:9015637C>G ENST00000397910.4 - 29 38389 c.38186G>C c.(38185-38187)aGa>aCa p.R12729T NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 12731 SEA 5. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CTGCAGGACTCTCTCTGTGGT 0.532000 26 150 0 0 1 0 0 MCF2L 23263 broad.mit.edu 37 13 113729380 113729380 + Silent SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr13:113729380G>A ENST00000397030.1 + 11 1321 c.1284G>A c.(1282-1284)gcG>gcA p.A428A MCF2L_ENST00000421756.1_Silent_p.A399A|MCF2L_ENST00000375601.3_Silent_p.A399A|MCF2L_ENST00000375604.2_Silent_p.A452A|MCF2L_ENST00000423482.2_Silent_p.A393A|MCF2L_ENST00000535094.2_Silent_p.A395A|MCF2L_ENST00000375608.3_Silent_p.A425A|MCF2L_ENST00000434480.2_Silent_p.A401A|MCF2L_ENST00000375597.4_Silent_p.A393A|MCF2L_ENST00000442652.2_Silent_p.A425A O15068 MCF2L_HUMAN MCF.2 cell line derived transforming sequence-like 425 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|plasma membrane Rho guanyl-nucleotide exchange factor activity kidney(1)|large_intestine(5)|ovary(1)|stomach(1) 8 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188) AGCACTACGCGGTAGACTCCA 0.657000 28 62 0 0 1 0 0 REG1P 5969 broad.mit.edu 37 2 79364352 79364352 + RNA SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr2:79364352C>T ENST00000444841.1 - 0 282 TCACTCACATCTGCATAAACC 0.537000 14 13 0 0 1 0 0 MYO19 80179 broad.mit.edu 37 17 34869487 34869487 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr17:34869487C>T ENST00000431794.3 - 10 1324 c.802G>A c.(802-804)Gag>Aag p.E268K MYO19_ENST00000544606.1_Missense_Mutation_p.E134K|MYO19_ENST00000268852.9_Missense_Mutation_p.E268K|MYO19_ENST00000586007.1_Missense_Mutation_p.E268K NM_001163735.1 NP_001157207.1 Q96H55 MYO19_HUMAN myosin XIX 268 Myosin head-like. mitochondrial outer membrane|myosin complex actin binding|ATP binding|motor activity endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1) 20 Breast(25;0.00957)|Ovarian(249;0.17) Kidney(155;0.104) UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) AAGCTCCTCTCTGGGTTGGGC 0.602000 8 34 0 0 1 0 0 TRIM8 81603 broad.mit.edu 37 10 104404923 104404923 + Missense_Mutation SNP G G T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr10:104404923G>T ENST00000302424.7 + 1 671 c.549G>T c.(547-549)gaG>gaT p.E183D NM_030912.2 NP_112174.2 Q9BZR9 TRIM8_HUMAN tripartite motif containing 8 cytoplasm|PML body ligase activity|protein homodimerization activity|zinc ion binding endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 15 Colorectal(252;0.122) Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) GCGACGTGGAGATCCGAAGGA 0.647000 10 11 1.33987e-11 1.4213e-11 1 1 0 ATAD2 29028 broad.mit.edu 37 8 124371897 124371897 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr8:124371897C>T ENST00000287394.5 - 10 1293 c.1186G>A c.(1186-1188)Gaa>Aaa p.E396K ATAD2_ENST00000521903.1_5'UTR|ATAD2_ENST00000534257.1_5'UTR NM_014109.3 NP_054828.2 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 396 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 48 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) CCTTTTAATTCATCTTTCCGA 0.358000 6 67 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152686043 152686043 + Nonsense_Mutation SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr6:152686043G>A ENST00000367255.5 - 63 10685 c.10084C>T c.(10084-10086)Cag>Tag p.Q3362* SYNE1_ENST00000265368.4_Nonsense_Mutation_p.Q3362*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.Q3401*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.Q3369*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.Q3369* NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 3362 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CTCTGCAGCTGCTGCTGAATA 0.458000 HNSCC(10;0.0054) 37 93 0 0 1 0 0 BAHCC1 57597 broad.mit.edu 37 17 79414364 79414364 + Missense_Mutation SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr17:79414364G>A ENST00000307745.7 + 15 3466 c.3466G>A c.(3466-3468)Gaa>Aaa p.E1156K GGGGCTACAAGAACTGCAATG 0.697000 3 10 0 0 1 0 0 CTC1 80169 broad.mit.edu 37 17 8141719 8141719 + Silent SNP C C G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr17:8141719C>G ENST00000315684.8 - 3 433 c.426G>C c.(424-426)ctG>ctC p.L142L CTC1_ENST00000581671.1_5'UTR NM_025099.5 NP_079375.3 Q2NKJ3 CTC1_HUMAN CTS telomere maintenance complex component 1 142 positive regulation of DNA replication|telomere maintenance Stn1-Ten1 complex protein binding|single-stranded DNA binding NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4) 29 CCTCACAGCTCAGGACGCCAG 0.488000 36 224 0 0 1 0 0 ERBB2 2064 broad.mit.edu 37 17 37868208 37868208 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr17:37868208C>T ENST00000406381.2 + 10 1349 c.839C>T c.(838-840)tCc>tTc p.S280F ERBB2_ENST00000269571.5_Missense_Mutation_p.S310F|ERBB2_ENST00000541774.1_Missense_Mutation_p.S295F|ERBB2_ENST00000584450.1_Missense_Mutation_p.S310F|ERBB2_ENST00000540042.1_Missense_Mutation_p.S280F|ERBB2_ENST00000578199.1_Missense_Mutation_p.S280F|ERBB2_ENST00000584601.1_Missense_Mutation_p.S280F|ERBB2_ENST00000445658.2_Missense_Mutation_p.S34F|ERBB2_ENST00000540147.1_Missense_Mutation_p.S280F NM_001005862.1 NP_001005862.1 P04626 ERBB2_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 310 cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.S310F(6)|p.S310Y(1) NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4) 247 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) GACGTGGGATCCTGCACCCTC 0.582000 1 """A, Mis, O""" """breast, ovarian, other tumour types, NSCLC, gastric""" TCGA GBM(5;<1E-08) 101 153 0 0 1 0 0 ZNF131 7690 broad.mit.edu 37 5 43122240 43122240 + Missense_Mutation SNP G G C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr5:43122240G>C ENST00000509634.1 + 1 541 c.85G>C c.(85-87)Gag>Cag p.E29Q ZNF131_ENST00000509931.1_Missense_Mutation_p.E29Q|ZNF131_ENST00000399534.1_Missense_Mutation_p.E29Q|ZNF131_ENST00000505606.2_Missense_Mutation_p.E29Q|ZNF131_ENST00000306938.4_Missense_Mutation_p.E29Q|ZNF131_ENST00000509156.1_Missense_Mutation_p.E29Q P52739 ZN131_HUMAN zinc finger protein 131 29 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 17 TGAACAGCGAGAGCAGGACCG 0.517000 89 88 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578457 7578457 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr17:7578457C>T ENST00000420246.2 - 5 605 c.473G>A c.(472-474)cGc>cAc p.R158H TP53_ENST00000455263.2_Missense_Mutation_p.R158H|TP53_ENST00000269305.4_Missense_Mutation_p.R158H|TP53_ENST00000359597.4_Missense_Mutation_p.R158H|TP53_ENST00000445888.2_Missense_Mutation_p.R158H|TP53_ENST00000413465.2_Missense_Mutation_p.R158H NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 158 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. R -> C (in sporadic cancers; somatic mutation).|R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R158L(77)|p.R158H(74)|p.R158P(9)|p.R65L(8)|p.0?(8)|p.R26L(8)|p.R158fs(6)|p.R158fs*11(6)|p.R65H(5)|p.R26H(5)|p.R158_A159insX(4)|p.R65fs(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R26fs(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R26fs*11(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R65fs*11(1)|p.R156fs*20(1)|p.R158C(1)|p.V157_I162delVRAMAI(1)|p.V157fs*21(1)|p.R158fs*8(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GGCCATGGCGCGGACGCGGGT 0.627000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 17 25 0 0 1 0 0 PLCL2 23228 broad.mit.edu 37 3 17051752 17051752 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr3:17051752C>T ENST00000418129.2 + 2 1001 c.536C>T c.(535-537)aCg>aTg p.T179M PLCL2_ENST00000432376.1_Missense_Mutation_p.T179M|PLCL2_ENST00000460467.1_Intron|PLCL2_ENST00000396755.2_Missense_Mutation_p.T179M NM_001144382.1 NP_001137854.1 Q9UPR0 PLCL2_HUMAN phospholipase C-like 2 305 PH. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 43 GGTTTAAAAACGAGCAAAATT 0.348000 30 83 0 0 1 0 0 SEZ6L2 26470 broad.mit.edu 37 16 29900017 29900017 + Missense_Mutation SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr16:29900017G>A ENST00000308713.5 - 6 1410 c.883C>T c.(883-885)Cgg>Tgg p.R295W SEZ6L2_ENST00000537485.1_Missense_Mutation_p.R251W|SEZ6L2_ENST00000346932.5_Missense_Mutation_p.R181W|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.R225W|SEZ6L2_ENST00000562159.1_5'UTR NM_001114099.2|NM_201575.3 NP_001107571.1|NP_963869.2 Q6UXD5 SE6L2_HUMAN seizure related 6 homolog (mouse)-like 2 295 Sushi 1. endoplasmic reticulum membrane|integral to membrane|plasma membrane breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TGGGCCGGCCGGGGAGGGAAG 0.642000 23 30 0 0 1 0 0 SLC5A7 60482 broad.mit.edu 37 2 108626840 108626840 + Silent SNP T T C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr2:108626840T>C ENST00000264047.2 + 9 1542 c.1266T>C c.(1264-1266)ctT>ctC p.L422L SLC5A7_ENST00000540517.1_Silent_p.L317L|SLC5A7_ENST00000409059.1_Silent_p.L422L NM_021815.2 NP_068587.1 Q9GZV3 SC5A7_HUMAN solute carrier family 5 (sodium/choline cotransporter), member 7 422 acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Choline(DB00122) CCCAGCTGCTTTGTGTACTCT 0.498000 53 45 0 0 1 0 0 SPON1 10418 broad.mit.edu 37 11 14276159 14276159 + RNA SNP T T A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr11:14276159T>A ENST00000310358.7 + 0 1511 Q9HCB6 SPON1_HUMAN spondin 1, extracellular matrix protein cell adhesion extracellular space|proteinaceous extracellular matrix protein binding NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 21 Epithelial(150;0.00898) TAGTCCCGACTGGAACGTAGG 0.542000 14 42 0 0 1 0 0 SAE1 10055 broad.mit.edu 37 19 47706939 47706939 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr19:47706939C>T ENST00000270225.7 + 8 958 c.890C>T c.(889-891)tCc>tTc p.S297F SAE1_ENST00000598840.1_Missense_Mutation_p.S216F|SAE1_ENST00000392776.3_Missense_Mutation_p.P249S|SAE1_ENST00000413379.3_Intron|SAE1_ENST00000540850.1_Missense_Mutation_p.S123F NM_005500.2 NP_005491.1 Q9UBE0 SAE1_HUMAN SUMO1 activating enzyme subunit 1 297 protein sumoylation|protein ubiquitination nucleus ATP-dependent protein binding|enzyme activator activity|ligase activity|protein C-terminus binding|protein heterodimerization activity|ubiquitin activating enzyme activity endometrium(3)|large_intestine(5)|lung(4)|ovary(1) 13 all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15) all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278) TACTGCTTCTCCGAGATGGCC 0.463000 78 42 0 0 1 0 0 TRAV19 28664 broad.mit.edu 37 14 22476318 22476318 + RNA SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr14:22476318G>A ENST00000390447.3 + 0 365 ATAAGTGGTCGGTATTCTTGG 0.423000 16 13 0 0 1 0 0 ACACB 32 broad.mit.edu 37 12 109702055 109702055 + Missense_Mutation SNP A A G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr12:109702055A>G ENST00000338432.7 + 50 6925 c.6806A>G c.(6805-6807)gAc>gGc p.D2269G ACACB_ENST00000377854.5_Missense_Mutation_p.D2199G|ACACB_ENST00000543201.1_3'UTR|ACACB_ENST00000377848.3_Missense_Mutation_p.D2269G O00763 ACACB_HUMAN acetyl-CoA carboxylase beta 2269 Carboxyltransferase. acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Biotin(DB00121) GATCTCTCCGACAAGGACCGA 0.552000 OREG0022102 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 33 123 0 0 1 0 0 RNASE4 6038 broad.mit.edu 37 14 21167916 21167916 + Missense_Mutation SNP G G C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr14:21167916G>C ENST00000555835.1 + 2 1062 c.386G>C c.(385-387)aGa>aCa p.R129T AL163636.6_ENST00000553909.1_3'UTR|RNASE4_ENST00000397995.2_Missense_Mutation_p.R129T|RP11-903H12.3_ENST00000554286.1_RNA|RNASE4_ENST00000304704.4_Missense_Mutation_p.R129T|RNASE4_ENST00000555597.1_Missense_Mutation_p.R129T NM_002937.3 NP_002928.1 P34096 RNAS4_HUMAN ribonuclease, RNase A family, 4 129 mRNA cleavage extracellular region nucleic acid binding|pancreatic ribonuclease activity central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1) 6 all_cancers(95;0.00304) Epithelial(56;5.13e-07)|all cancers(55;4.73e-06) GBM - Glioblastoma multiforme(265;0.0133) GCGAGCACTAGACGTGTTGTC 0.527000 88 104 0 0 1 0 0 RTP2 344892 broad.mit.edu 37 3 187419823 187419823 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr3:187419823C>T ENST00000358241.1 - 1 522 c.94G>A c.(94-96)Gac>Aac p.D32N NM_001004312.2 NP_001004312.2 Q5QGT7 RTP2_HUMAN receptor (chemosensory) transporter protein 2 32 protein insertion into membrane cell surface|integral to membrane|plasma membrane olfactory receptor binding large_intestine(3)|lung(14)|skin(1) 18 all_cancers(143;4.06e-12)|Ovarian(172;0.0418) OV - Ovarian serous cystadenocarcinoma(80;1.76e-18) GBM - Glioblastoma multiforme(93;0.0515) AGGTTGGGGTCTATGATGAGC 0.577000 38 181 0 0 1 0 0 KCNU1 157855 broad.mit.edu 37 8 36644853 36644853 + Silent SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr8:36644853G>A ENST00000399881.3 + 2 262 c.225G>A c.(223-225)agG>agA p.R75R NM_001031836.2 NP_001027006.2 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 75 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) CCATCGCTAGGAGCCATGTAA 0.428000 8 17 0 0 1 0 0 SLC12A5 57468 broad.mit.edu 37 20 44676189 44676189 + Missense_Mutation SNP C C G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr20:44676189C>G ENST00000243964.3 + 15 1982 c.1884C>G c.(1882-1884)atC>atG p.I628M SLC12A5_ENST00000454036.2_Missense_Mutation_p.I651M NM_020708.4 NP_065759.1 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium/chloride transporter), member 5 651 potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 80 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) CTGGACTCATCTACAAGTACA 0.572000 18 156 0 0 1 0 0 ACOT12 134526 broad.mit.edu 37 5 80640791 80640791 + Silent SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr5:80640791G>A ENST00000307624.3 - 8 871 c.843C>T c.(841-843)atC>atT p.I281I NM_130767.2 NP_570123.1 Q8WYK0 ACO12_HUMAN acyl-CoA thioesterase 12 281 Acyl coenzyme A hydrolase 2. acyl-CoA metabolic process|fatty acid metabolic process cytosol acetyl-CoA hydrolase activity|carboxylesterase activity cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2) 23 Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135) OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34) AAGCACTGTTGATGTGACGCC 0.493000 44 46 0 0 1 0 0 MSX2 4488 broad.mit.edu 37 5 174156555 174156555 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr5:174156555C>T ENST00000239243.6 + 2 900 c.773C>T c.(772-774)cCa>cTa p.P258L NM_002449.4 NP_002440.2 P35548 MSX2_HUMAN msh homeobox 2 258 cranial suture morphogenesis|negative regulation of transcription, DNA-dependent|osteoblast differentiation cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1) 10 Renal(175;0.000159)|Lung NSC(126;0.0196)|all_lung(126;0.0303) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) TATGCCACGCCAGTGGGATAT 0.547000 27 58 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238277740 238277740 + Nonsense_Mutation SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr2:238277740G>A ENST00000295550.4 - 10 4818 c.4366C>T c.(4366-4368)Cga>Tga p.R1456* COL6A3_ENST00000353578.4_Nonsense_Mutation_p.R1250*|COL6A3_ENST00000347401.3_Nonsense_Mutation_p.R1255*|COL6A3_ENST00000346358.4_Nonsense_Mutation_p.R1256*|COL6A3_ENST00000472056.1_Nonsense_Mutation_p.R849*|COL6A3_ENST00000409809.1_Nonsense_Mutation_p.R1250* NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 1456 Nonhelical region.|VWFA 8. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) ACAAAATCTCGAATATGTGCA 0.458000 21 15 0 0 1 0 0 NALCN 259232 broad.mit.edu 37 13 101944717 101944717 + Splice_Site SNP C C G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr13:101944717C>G ENST00000251127.6 - 8 881 c.800G>C c.(799-801)gGa>gCa p.G267A NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Splice_Site_p.G267A NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 267 integral to membrane sodium channel activity|voltage-gated ion channel activity NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TATACTAGTTCCTGTCATGAC 0.433000 23 28 0 0 1 0 0 KIAA1755 85449 broad.mit.edu 37 20 36870149 36870149 + Silent SNP G G C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr20:36870149G>C ENST00000279024.4 - 3 655 c.384C>G c.(382-384)ctC>ctG p.L128L NM_001029864.1 NP_001025035.1 Q5JYT7 K1755_HUMAN KIAA1755 128 breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1) 54 Myeloproliferative disorder(115;0.00874) CCACTGTGCAGAGGTCCAGGG 0.537000 42 135 0 0 1 0 0 SYT15 83849 broad.mit.edu 37 10 46967428 46967428 + Nonsense_Mutation SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr10:46967428G>A ENST00000374323.4 - 3 1395 c.808C>T c.(808-810)Cag>Tag p.Q270* SYT15_ENST00000374321.4_Nonsense_Mutation_p.Q217*|SYT15_ENST00000374325.3_Nonsense_Mutation_p.Q217*|SYT15_ENST00000503753.1_Nonsense_Mutation_p.Q217* Q9BQS2 SYT15_HUMAN synaptotagmin XV integral to membrane|plasma membrane cervix(1)|endometrium(5)|kidney(2)|lung(5) 13 GGCTGTACCTGAAAGATGAAG 0.602000 7 67 0 0 1 0 0 DNAJC14 85406 broad.mit.edu 37 12 56216185 56216185 + Missense_Mutation SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr12:56216185G>A ENST00000357606.3 - 7 2159 c.1870C>T c.(1870-1872)Cgg>Tgg p.R624W RP11-762I7.5_ENST00000546837.1_Missense_Mutation_p.S253L|DNAJC14_ENST00000317287.5_Missense_Mutation_p.R624W|RP11-762I7.5_ENST00000552719.1_5'UTR|DNAJC14_ENST00000317269.3_Missense_Mutation_p.R624W Q6Y2X3 DJC14_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 14 624 protein folding|protein transport endoplasmic reticulum membrane|integral to membrane heat shock protein binding|unfolded protein binding breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1) 23 CCTGGAATCCGAGAACCAAAT 0.453000 OREG0021910 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 23 87 0 0 1 0 0 RASEF 158158 broad.mit.edu 37 9 85613323 85613323 + Missense_Mutation SNP C C G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr9:85613323C>G ENST00000376447.3 - 13 2022 c.1762G>C c.(1762-1764)Gaa>Caa p.E588Q NM_152573.2 NP_689786.2 Q8IZ41 RASEF_HUMAN RAS and EF-hand domain containing 588 protein transport|small GTPase mediated signal transduction perinuclear region of cytoplasm calcium ion binding|GTP binding NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 33 ACTGTTCGTTCTCCATCCACA 0.453000 179 84 0 0 1 0 0 AQP6 363 broad.mit.edu 37 12 50368531 50368531 + Silent SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr12:50368531C>T ENST00000315520.5 + 3 901 c.564C>T c.(562-564)atC>atT p.I188I AQP6_ENST00000551733.1_Silent_p.I14I NM_001652.3 NP_001643.2 Q13520 AQP6_HUMAN aquaporin 6, kidney specific 188 excretion|odontogenesis integral to plasma membrane|transport vesicle membrane anion channel activity|water channel activity endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(2) 13 CTCCCCAGATCCACTTCACTG 0.607000 OREG0021809 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 33 21 0 0 1 0 0 CTAGE1 64693 broad.mit.edu 37 18 19995722 19995722 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr18:19995722C>T ENST00000391403.2 - 1 2156 c.2053G>A c.(2053-2055)Gga>Aga p.G685R NM_172241.2 NP_758441.2 Q96RT6 CTGE2_HUMAN cutaneous T-cell lymphoma-associated antigen 1 685 Pro-rich. integral to membrane cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1) 27 all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135) AAAGGAGGTCCTCTTCTTATG 0.507000 73 122 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140348520 140348520 + Silent SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr5:140348520C>T ENST00000289269.5 + 1 2701 c.2169C>T c.(2167-2169)atC>atT p.I723I PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron NM_018899.5|NM_031883.2 NP_061722.1|NP_114089.1 Q9Y5I4 PCDC2_HUMAN 723 homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTTTGACAATCATCATTTTGA 0.433000 14 85 0 0 1 0 0 EXOC3 11336 broad.mit.edu 37 5 464494 464494 + Silent SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr5:464494C>T ENST00000512944.1 + 10 1932 c.1743C>T c.(1741-1743)aaC>aaT p.N581N EXOC3_ENST00000315013.5_Silent_p.N581N NM_007277.4 NP_009208.2 O60645 EXOC3_HUMAN exocyst complex component 3 592 exocytosis|protein transport breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1) 23 Ovarian(839;0.0563) Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) ACTATTTCAACGATTTTGCCA 0.443000 19 209 0 0 1 0 0 GLUD1P7 414212 broad.mit.edu 37 10 48968566 48968566 + RNA SNP A A G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr10:48968566A>G ENST00000594520.1 + 0 723 ACAGGATAACAAACTGGAAAA 0.318000 3 24 0 0 1 0 0 TMEM139 135932 broad.mit.edu 37 7 142983872 142983872 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr7:142983872C>T ENST00000359333.3 + 3 1114 c.601C>T c.(601-603)Cac>Tac p.H201Y TMEM139_ENST00000409102.1_Missense_Mutation_p.H201Y|TMEM139_ENST00000410004.1_Missense_Mutation_p.H201Y|TMEM139_ENST00000409244.1_Missense_Mutation_p.H201Y|AC073342.12_ENST00000446192.1_RNA|TMEM139_ENST00000409541.1_Missense_Mutation_p.H201Y|TMEM139_ENST00000471161.1_3'UTR NM_001242775.2|NM_001282876.1|NM_001282877.1 NP_001229704.1|NP_001269805.1|NP_001269806.1 Q8IV31 TM139_HUMAN transmembrane protein 139 201 integral to membrane endometrium(1)|lung(4)|ovary(1)|prostate(1) 7 Melanoma(164;0.059) CTGCTTTGGTCACCCTGATGA 0.522000 70 67 0 0 1 0 0 MOCOS 55034 broad.mit.edu 37 18 33800081 33800081 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr18:33800081C>T ENST00000261326.5 + 9 1882 c.1861C>T c.(1861-1863)Cac>Tac p.H621Y NM_017947.2 NP_060417.2 Q96EN8 MOCOS_HUMAN molybdenum cofactor sulfurase 621 Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Pyridoxal Phosphate(DB00114) GGTTGTGAATCACAATGGTGT 0.537000 23 30 0 0 1 0 0 PPP1R12B 4660 broad.mit.edu 37 1 202549682 202549682 + Silent SNP C C G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr1:202549682C>G ENST00000608999.1 + 24 3096 c.2943C>G c.(2941-2943)tcC>tcG p.S981S PPP1R12B_ENST00000290419.5_3'UTR|PPP1R12B_ENST00000367270.4_3'UTR|PPP1R12B_ENST00000336894.4_Silent_p.S981S|PPP1R12B_ENST00000391959.3_Silent_p.S207S NM_001197131.1|NM_002481.3 NP_001184060.1|NP_002472.2 O60237 MYPT2_HUMAN protein phosphatase 1, regulatory subunit 12B regulation of muscle contraction|signal transduction cytoplasm enzyme activator activity central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(75;0.166) GCAAACTGTCCAAGTAGGCTA 0.478000 44 28 0 0 1 0 0 LIMCH1 22998 broad.mit.edu 37 4 41668680 41668680 + Missense_Mutation SNP C C G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr4:41668680C>G ENST00000313860.7 + 16 2293 c.2239C>G c.(2239-2241)Caa>Gaa p.Q747E LIMCH1_ENST00000513024.1_Missense_Mutation_p.Q576E|LIMCH1_ENST00000512820.1_Missense_Mutation_p.Q735E|LIMCH1_ENST00000512946.1_Missense_Mutation_p.Q747E|LIMCH1_ENST00000503057.1_Missense_Mutation_p.Q1132E|LIMCH1_ENST00000381753.4_Missense_Mutation_p.Q581E|LIMCH1_ENST00000514096.1_Missense_Mutation_p.Q588E|LIMCH1_ENST00000508501.1_Missense_Mutation_p.Q747E|LIMCH1_ENST00000509277.1_Missense_Mutation_p.Q581E|LIMCH1_ENST00000512632.1_Intron|LIMCH1_ENST00000396595.3_Missense_Mutation_p.Q593E|LIMCH1_ENST00000511496.1_Missense_Mutation_p.Q588E NM_014988.2 NP_055803.2 Q9UPQ0 LIMC1_HUMAN LIM and calponin homology domains 1 747 actomyosin structure organization actin binding|zinc ion binding central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5) 41 TCTCAATTCTCAAGGTAAAGA 0.393000 9 40 0 0 1 0 0 ZNF714 148206 broad.mit.edu 37 19 21300143 21300143 + Missense_Mutation SNP G G C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr19:21300143G>C ENST00000596143.1 + 5 998 c.673G>C c.(673-675)Gag>Cag p.E225Q ZNF714_ENST00000596053.1_Intron|ZNF714_ENST00000601416.1_3'UTR|ZNF714_ENST00000291770.7_3'UTR NM_182515.3 NP_872321 Q96N38 ZN714_HUMAN zinc finger protein 714 226 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|lung(11)|urinary_tract(2) 18 TCATACTGGAGAGAAACCCTA 0.408000 5 68 0 0 1 0 0 PDZK1 5174 broad.mit.edu 37 1 145747150 145747150 + Missense_Mutation SNP G G T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr1:145747150G>T ENST00000344770.2 + 2 180 c.107G>T c.(106-108)cGg>cTg p.R36L PDZK1_ENST00000451928.2_Missense_Mutation_p.R36L|PDZK1_ENST00000417171.1_Missense_Mutation_p.R36L NM_002614.4 NP_002605.2 Q5T2W1 NHRF3_HUMAN PDZ domain containing 1 36 PDZ 1. carnitine transport|cell proliferation|drug transport|positive regulation of ion transmembrane transport brush border membrane|cytoplasm PDZ domain binding|transporter activity NS(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1) 7 all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786) KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229) CACCTGGTCCGGGTGGTTGAG 0.502000 22 491 1.10923e-09 1.16697e-09 1 1 0 ADCYAP1 116 broad.mit.edu 37 18 907685 907685 + Missense_Mutation SNP G G C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr18:907685G>C ENST00000579794.1 + 2 414 c.136G>C c.(136-138)Gac>Cac p.D46H ADCYAP1_ENST00000450565.3_Missense_Mutation_p.D46H NM_001117.3 NP_001108.2 P18509 PACA_HUMAN adenylate cyclase activating polypeptide 1 (pituitary) 46 activation of adenylate cyclase activity|cell-cell signaling|female pregnancy|nerve growth factor receptor signaling pathway|regulation of G-protein coupled receptor protein signaling pathway extracellular region|soluble fraction neuropeptide hormone activity|peptide hormone receptor binding endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 12 GTACGGCGAGGACGGAAACCC 0.731000 2 5 0 0 1 0 0 PIGO 84720 broad.mit.edu 37 9 35094310 35094310 + Silent SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr9:35094310G>A ENST00000378617.3 - 3 952 c.558C>T c.(556-558)ttC>ttT p.F186F PIGO_ENST00000298004.5_Silent_p.F186F|PIGO_ENST00000341666.3_Silent_p.F186F|PIGO_ENST00000361778.2_Silent_p.F186F NM_032634.3 NP_116023.2 Q8TEQ8 PIGO_HUMAN phosphatidylinositol glycan anchor biosynthesis, class O 186 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane transferase activity endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3) 38 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) AAGCACCAGGGAAAAGGTCTT 0.502000 20 31 0 0 1 0 0 CHST7 56548 broad.mit.edu 37 X 46433799 46433799 + Missense_Mutation SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chrX:46433799G>A ENST00000276055.3 + 1 581 c.433G>A c.(433-435)Gac>Aac p.D145N NM_019886.2 NP_063939.2 Q9NS84 CHST7_HUMAN carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 7 145 chondroitin sulfate biosynthetic process|N-acetylglucosamine metabolic process Golgi membrane|integral to membrane chondroitin 6-sulfotransferase activity|N-acetylglucosamine 6-O-sulfotransferase activity breast(3)|endometrium(2)|kidney(1)|lung(2) 8 GTATCCGGGCGACGCCGAGAG 0.657000 33 16 0 0 1 0 0 ZNF37BP 100129482 broad.mit.edu 37 10 43016561 43016561 + RNA SNP T T A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr10:43016561T>A ENST00000452075.3 - 0 1033 NR_026777.1 TAGTTTCTACTGGTATTAATT 0.308000 19 50 0 0 1 0 0 PEG3 5178 broad.mit.edu 37 19 57327167 57327167 + Silent SNP A A G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr19:57327167A>G ENST00000326441.9 - 10 3006 c.2643T>C c.(2641-2643)ccT>ccC p.P881P ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Silent_p.P755P|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Silent_p.P881P|PEG3_ENST00000598410.1_Silent_p.P757P|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 881 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) CCCCTTCACAAGGGTTCTCTC 0.443000 24 110 0 0 1 0 0 SMPD4P1 645280 broad.mit.edu 37 22 20970648 20970648 + RNA SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr22:20970648C>T ENST00000443839.1 - 0 1976 GGTCTGCATTCACAGACATCT 0.557000 4 29 0 0 1 0 0 SENP5 205564 broad.mit.edu 37 3 196612107 196612107 + Missense_Mutation SNP G G C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr3:196612107G>C ENST00000323460.5 + 2 304 c.55G>C c.(55-57)Gag>Cag p.E19Q SENP5_ENST00000419026.1_Intron|SENP5_ENST00000445299.2_Missense_Mutation_p.E19Q NM_152699.4 NP_689912.2 Q96HI0 SENP5_HUMAN SUMO1/sentrin specific peptidase 5 19 cell cycle|cell division|proteolysis nucleolus cysteine-type peptidase activity NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1) 32 all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.004) AGCCTTTTCTGAGAAATGGAA 0.383000 24 76 0 0 1 0 0 GRIK2 2898 broad.mit.edu 37 6 102483434 102483434 + Silent SNP T T C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr6:102483434T>C ENST00000369138.1 + 14 2794 c.2304T>C c.(2302-2304)acT>acC p.T768T GRIK2_ENST00000318991.6_Silent_p.T768T|GRIK2_ENST00000369137.3_Silent_p.T692T|GRIK2_ENST00000421544.1_Silent_p.T768T|GRIK2_ENST00000413795.1_Silent_p.T768T|GRIK2_ENST00000369134.4_Silent_p.T719T NM_001166247.1 NP_001159719.1 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 768 glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) GCGTTGGCACTCCCATGGGTA 0.443000 47 134 0 0 1 0 0 SMURF1 57154 broad.mit.edu 37 7 98645441 98645441 + Missense_Mutation SNP C C A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr7:98645441C>A ENST00000361125.1 - 11 1415 c.1096G>T c.(1096-1098)Gac>Tac p.D366Y AC004893.11_ENST00000468960.2_RNA|AC004893.11_ENST00000482799.2_RNA|SMURF1_ENST00000361368.2_Missense_Mutation_p.D340Y NM_020429.2 NP_065162.1 Q9HCE7 SMUF1_HUMAN SMAD specific E3 ubiquitin protein ligase 1 366 BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process cytosol|plasma membrane activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1) 25 all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224) AGCTCCTCGTCCTCCAGAGAG 0.562000 69 290 1.52378e-38 1.69603e-38 1 1 0 VARS2 57176 broad.mit.edu 37 6 30884992 30884992 + Silent SNP G G A rs59234326 by1000genomes TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr6:30884992G>A ENST00000321897.5 + 8 1496 c.864G>A c.(862-864)tcG>tcA p.S288S VARS2_ENST00000542001.1_Silent_p.S148S|VARS2_ENST00000541562.1_Silent_p.S318S|VARS2_ENST00000416670.2_Silent_p.S288S Q5ST30 SYVM_HUMAN valyl-tRNA synthetase 2, mitochondrial 288 valyl-tRNA aminoacylation mitochondrion ATP binding|valine-tRNA ligase activity central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1) 46 CAGCCATCTCGGACATTGAGG 0.542000 105 119 0 0 1 0 0 FOXE3 2301 broad.mit.edu 37 1 47882467 47882467 + Silent SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr1:47882467C>T ENST00000335071.2 + 1 724 c.480C>T c.(478-480)ttC>ttT p.F160F NM_012186.2 NP_036318.1 Q13461 FOXE3_HUMAN forkhead box E3 160 cell migration|embryonic organ morphogenesis|enteric nervous system development|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|pattern specification process|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thyroid gland development|thyroid hormone generation transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding lung(3)|prostate(1)|upper_aerodigestive_tract(1) 5 READ - Rectum adenocarcinoma(2;0.0908) ACGGCAGCTTCCTGCGGCGCC 0.746000 35 21 0 0 1 0 0 WRN 7486 broad.mit.edu 37 8 30933803 30933803 + Splice_Site SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr8:30933803G>A ENST00000298139.5 + 8 1088 c.839G>A c.(838-840)aGg>aAg p.R280K NM_000553.4 NP_000544.2 Q14191 WRN_HUMAN Werner syndrome, RecQ helicase-like 280 base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3) 60 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) AACCCACGGAGGTTAAATATT 0.328000 """Mis, N, F, S""" """osteosarcoma, meningioma, others""" Genes defective in diseases associated with sensitivity to DNA damaging agents Werner syndrome 28 30 0 0 1 0 0 ZFR2 23217 broad.mit.edu 37 19 3819086 3819086 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr19:3819086C>T ENST00000262961.4 - 12 1898 c.1888G>A c.(1888-1890)Gag>Aag p.E630K NM_015174.1 NP_055989.1 Q9UPR6 ZFR2_HUMAN zinc finger RNA binding protein 2 630 intracellular nucleic acid binding|zinc ion binding central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1) 16 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19) CGGTCCTCCTCGGCCAGTGTG 0.687000 5 21 0 0 1 0 0 ACHE 43 broad.mit.edu 37 7 100491073 100491073 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr7:100491073C>T ENST00000302913.4 - 2 919 c.781G>A c.(781-783)Ggt>Agt p.G261S ACHE_ENST00000419336.2_Missense_Mutation_p.G261S|ACHE_ENST00000428317.1_Missense_Mutation_p.G261S|ACHE_ENST00000411582.1_Missense_Mutation_p.G261S|ACHE_ENST00000241069.5_Missense_Mutation_p.G261S|ACHE_ENST00000412389.1_Missense_Mutation_p.G261S NM_015831.2 NP_056646.1 P22303 ACES_HUMAN acetylcholinesterase 261 acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity large_intestine(3)|lung(7)|skin(3)|urinary_tract(3) 16 Lung NSC(181;0.041)|all_lung(186;0.0581) Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199) TTGGGGGCACCGCTCTGCAGC 0.726000 14 51 0 0 1 0 0 XYLT1 64131 broad.mit.edu 37 16 17211827 17211827 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr16:17211827C>T ENST00000261381.6 - 11 2317 c.2233G>A c.(2233-2235)Gac>Aac p.D745N NM_022166.3 NP_071449.1 Q86Y38 XYLT1_HUMAN xylosyltransferase I 745 glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 GCATCCCAGTCAGTGCCGACC 0.547000 11 56 0 0 1 0 0 TCF25 22980 broad.mit.edu 37 16 89952289 89952289 + Missense_Mutation SNP G G C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr16:89952289G>C ENST00000263346.8 + 4 519 c.463G>C c.(463-465)Gag>Cag p.E155Q TCF25_ENST00000263347.7_5'UTR NM_014972.2 NP_055787.1 Q9BQ70 TCF25_HUMAN transcription factor 25 (basic helix-loop-helix) 155 heart development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2) 18 all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027) BRCA - Breast invasive adenocarcinoma(80;0.0288) TCGCATCCTAGAGAGGATTGA 0.498000 48 60 0 0 1 0 0 PSG2 5670 broad.mit.edu 37 19 43585239 43585239 + Missense_Mutation SNP A A T rs142667584 TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr19:43585239A>T ENST00000406487.1 - 2 322 c.224T>A c.(223-225)cTc>cAc p.L75H NM_031246.3 NP_112536.2 P11465 PSG2_HUMAN pregnancy specific beta-1-glycoprotein 2 75 Ig-like V-type. cell migration|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2) 49 Prostate(69;0.00682) GTAATGGTAGAGGTCCCTGAT 0.433000 33 346 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103461433 103461433 + Missense_Mutation SNP G G C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr1:103461433G>C ENST00000358392.2 - 28 2680 c.2363C>G c.(2362-2364)tCt>tGt p.S788C COL11A1_ENST00000370096.3_Missense_Mutation_p.S776C|COL11A1_ENST00000353414.4_Missense_Mutation_p.S737C|COL11A1_ENST00000512756.1_Missense_Mutation_p.S660C NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 776 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TTCACCTTTAGATCCCTTGAG 0.269000 18 119 0 0 1 0 0 CENPN 55839 broad.mit.edu 37 16 81045675 81045675 + Missense_Mutation SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr16:81045675G>A ENST00000305850.5 + 2 921 c.131G>A c.(130-132)aGa>aAa p.R44K CENPN_ENST00000428963.2_Missense_Mutation_p.R44K|CMC2_ENST00000565914.1_Intron|CENPN_ENST00000569461.1_3'UTR|CENPN_ENST00000393335.3_Missense_Mutation_p.R44K|CENPN_ENST00000299572.5_Missense_Mutation_p.R44K|CENPN_ENST00000439957.3_Missense_Mutation_p.R44K NM_001100624.2|NM_001270474.1 NP_001094094.2|NP_001257403.1 Q96H22 CENPN_HUMAN centromere protein N 44 CenH3-containing nucleosome assembly at centromere|mitotic prometaphase condensed chromosome kinetochore|cytosol|nucleoplasm breast(1)|large_intestine(5)|lung(4) 10 TTCCGACAGAGAAAGGAATCT 0.418000 11 79 0 0 1 0 0 MEGF8 1954 broad.mit.edu 37 19 42873014 42873014 + Silent SNP G G A rs145990797 TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr19:42873014G>A ENST00000334370.4 + 36 6935 c.6300G>A c.(6298-6300)ccG>ccA p.P2100P MEGF8_ENST00000251268.6_Silent_p.P2167P NM_001410.2 NP_001401.2 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 2167 PSI 6. integral to membrane calcium ion binding|structural molecule activity breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 Prostate(69;0.00682) GTGGGCGTCCGGGGGCCTCCT 0.642000 68 31 0 0 1 0 0 APPL2 55198 broad.mit.edu 37 12 105593247 105593247 + Missense_Mutation SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr12:105593247G>A ENST00000258530.3 - 10 992 c.767C>T c.(766-768)tCt>tTt p.S256F APPL2_ENST00000539978.2_Missense_Mutation_p.S213F|APPL2_ENST00000551662.1_Missense_Mutation_p.S262F|APPL2_ENST00000549573.1_5'UTR NM_001251904.1|NM_018171.3 NP_001238833.1|NP_060641.2 Q8NEU8 DP13B_HUMAN adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2 256 Required for RAB5A binding (By similarity). cell cycle|cell proliferation|signal transduction early endosome membrane|nucleus protein binding breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 TTCATCAACAGAAAGTAATTC 0.473000 40 29 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124348677 124348677 + Missense_Mutation SNP T T A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr10:124348677T>A ENST00000338354.3 + 17 2107 c.2001T>A c.(1999-2001)gaT>gaA p.D667E DMBT1_ENST00000344338.3_Missense_Mutation_p.D657E|DMBT1_ENST00000368955.3_Missense_Mutation_p.D657E|DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000368909.3_Missense_Mutation_p.D667E Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 667 SRCR 5. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) TTGTCCTGGATGATGTGCGCT 0.587000 110 94 0 0 1 0 0 EDNRA 1909 broad.mit.edu 37 4 148406959 148406959 + Silent SNP C C A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr4:148406959C>A ENST00000324300.5 + 2 641 c.126C>A c.(124-126)ggC>ggA p.G42G EDNRA_ENST00000511804.1_Intron|EDNRA_ENST00000506066.1_Silent_p.G42G|EDNRA_ENST00000339690.5_Silent_p.G42G|EDNRA_ENST00000358556.4_Silent_p.G42G NM_001957.3 NP_001948.1 P25101 EDNRA_HUMAN endothelin receptor type A 42 activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange integral to plasma membrane endothelin-A receptor activity|phosphatidylinositol phospholipase C activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1) 17 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.154) Bosentan(DB00559) CTTTTCGTGGCACAGAGCTCA 0.448000 24 123 4.54149e-19 4.89868e-19 1 1 0 RBM42 79171 broad.mit.edu 37 19 36128214 36128214 + Silent SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr19:36128214G>A ENST00000262633.4 + 9 1395 c.1290G>A c.(1288-1290)aaG>aaA p.K430K RBM42_ENST00000592202.1_Silent_p.K376K|RBM42_ENST00000586618.1_Silent_p.K134K|RBM42_ENST00000588161.1_Silent_p.K400K|RBM42_ENST00000360475.4_Silent_p.K401K|RBM42_ENST00000589871.1_Silent_p.K408K|RBM42_ENST00000589559.1_Intron NM_024321.3 NP_077297.2 Q9BTD8 RBM42_HUMAN RNA binding motif protein 42 430 Necessary for interaction with HNRNPK (By similarity).|RRM. cytoplasm|nucleus nucleotide binding|RNA binding p.K430>?(1) breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1) 21 all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) TCAGCTTCAAGGACCCCAGCG 0.647000 91 112 0 0 1 0 0 FUBP1 8880 broad.mit.edu 37 1 78429366 78429366 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr1:78429366C>T ENST00000370767.1 - 13 1163 c.1076G>A c.(1075-1077)cGa>cAa p.R359Q FUBP1_ENST00000370768.2_Missense_Mutation_p.R359Q|FUBP1_ENST00000436586.2_Missense_Mutation_p.R380Q Q96AE4 FUBP1_HUMAN far upstream element (FUSE) binding protein 1 359 Gly-rich. transcription from RNA polymerase II promoter nucleus protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3) 17 ACCTCTTCCTCGACCACCAGG 0.428000 """F, N""" oligodendroglioma 26 41 0 0 1 0 0 UBE2D3 7323 broad.mit.edu 37 4 103730859 103730859 + Splice_Site SNP C C A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr4:103730859C>A ENST00000453744.2 - 4 603 c.90G>T c.(88-90)atG>atT p.M30I UBE2D3_ENST00000504211.1_Splice_Site_p.M1I|UBE2D3_ENST00000350435.7_Splice_Site_p.M24I|UBE2D3_ENST00000338145.3_Splice_Site_p.M30I|UBE2D3_ENST00000357194.6_Splice_Site_p.M32I|UBE2D3_ENST00000505207.1_Splice_Site_p.M1I|UBE2D3_ENST00000507845.1_Splice_Site_p.M1I|UBE2D3_ENST00000513098.1_5'UTR|UBE2D3_ENST00000502404.1_Splice_Site_p.M1I|UBE2D3_ENST00000394803.5_Splice_Site_p.M30I|UBE2D3_ENST00000343106.5_Splice_Site_p.M30I|UBE2D3_ENST00000349311.8_Splice_Site_p.M30I|UBE2D3_ENST00000394801.4_Splice_Site_p.M30I|UBE2D3_ENST00000321805.7_Splice_Site_p.M30I|UBE2D3_ENST00000394804.2_Splice_Site_p.M30I NM_181891.1 NP_871620.1 P61077 UB2D3_HUMAN ubiquitin-conjugating enzyme E2D 3 30 apoptosis|BMP signaling pathway|DNA repair|negative regulation of type I interferon production|proteasomal ubiquitin-dependent protein catabolic process|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein monoubiquitination|transforming growth factor beta receptor signaling pathway endosome membrane|plasma membrane ATP binding|protein binding|ubiquitin-protein ligase activity kidney(1)|lung(3)|skin(1) 5 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;2.13e-08) GCCAATGAAACACTAGAAAAA 0.284000 7 40 0.000157383 0.000160732 1 1 0 EEF1A2 1917 broad.mit.edu 37 20 62121972 62121972 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr20:62121972C>T ENST00000217182.3 - 6 1054 c.889G>A c.(889-891)Gag>Aag p.E297K EEF1A2_ENST00000298049.7_Missense_Mutation_p.E297K NM_001958.3 NP_001949.1 Q05639 EF1A2_HUMAN eukaryotic translation elongation factor 1 alpha 2 297 nucleus GTP binding|GTPase activity|protein binding|translation elongation factor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1) 20 all_cancers(38;9.45e-12) BRCA - Breast invasive adenocarcinoma(10;1.22e-05) CTCAGAGCCTCGTGGTGCATC 0.627000 38 104 0 0 1 0 0 FAM135B 51059 broad.mit.edu 37 8 139380157 139380157 + Missense_Mutation SNP G G C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr8:139380157G>C ENST00000395297.1 - 2 240 c.70C>G c.(70-72)Cag>Gag p.Q24E NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 24 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) TACCCTCTCTGAAAGAGATCC 0.393000 HNSCC(54;0.14) 57 34 0 0 1 0 0 NLRP4 147945 broad.mit.edu 37 19 56392885 56392885 + Missense_Mutation SNP G G C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr19:56392885G>C ENST00000301295.6 + 10 3339 c.2917G>C c.(2917-2919)Gag>Cag p.E973Q NLRP4_ENST00000346986.5_Missense_Mutation_p.E917Q|NLRP4_ENST00000587891.1_Missense_Mutation_p.E898Q NM_134444.4 NP_604393.2 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 973 ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) TCTGACGGCTGAGGAAGAGAG 0.433000 32 21 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39799983 39799983 + Nonsense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr1:39799983C>T ENST00000564288.1 + 37 8500 c.7723C>T c.(7723-7725)Cag>Tag p.Q2575* MACF1_ENST00000361689.2_Intron|MACF1_ENST00000289893.4_Nonsense_Mutation_p.Q1015*|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000567887.1_Nonsense_Mutation_p.Q2612*|MACF1_ENST00000372915.3_Nonsense_Mutation_p.Q2580*|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000539005.1_Intron Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 2580 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) AAGAGAAATCCAGGAGGTTCA 0.378000 92 39 0 0 1 0 0 LDLRAD3 143458 broad.mit.edu 37 11 36248840 36248840 + Silent SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr11:36248840G>A ENST00000315571.5 + 5 681 c.660G>A c.(658-660)ctG>ctA p.L220L LDLRAD3_ENST00000524419.1_Silent_p.L210L|LDLRAD3_ENST00000529759.1_3'UTR|LDLRAD3_ENST00000528989.1_Silent_p.L171L NM_174902.2 NP_777562.1 Q86YD5 LRAD3_HUMAN low density lipoprotein receptor class A domain containing 3 220 integral to membrane receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1) 28 all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177) all_hematologic(20;0.124) TGTCCCGCCTGGTGGTCCTGG 0.627000 34 41 0 0 1 0 0 EFCAB1 79645 broad.mit.edu 37 8 49637345 49637345 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr8:49637345C>T ENST00000433756.1 - 5 595 c.436G>A c.(436-438)Gaa>Aaa p.E146K EFCAB1_ENST00000521002.1_Intron|EFCAB1_ENST00000523092.1_Missense_Mutation_p.E146K|EFCAB1_ENST00000262103.3_Missense_Mutation_p.E198K NM_001142857.1 NP_001136329.1 Q9HAE3 EFCB1_HUMAN EF-hand calcium binding domain 1 198 EF-hand 3. calcium ion binding endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2) 14 all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464) ACTTGAGCTTCAAATTCCATC 0.313000 24 14 0 0 1 0 0 HERC2 8924 broad.mit.edu 37 15 28456214 28456214 + Missense_Mutation SNP G G T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr15:28456214G>T ENST00000261609.7 - 44 7111 c.7003C>A c.(7003-7005)Cac>Aac p.H2335N NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 2335 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) TTATCCTGGTGGGAGAGCAGC 0.502000 19 116 1.56452e-12 1.66883e-12 1 1 0 VARS2 57176 broad.mit.edu 37 6 30889068 30889068 + Missense_Mutation SNP G G C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr6:30889068G>C ENST00000321897.5 + 16 2250 c.1618G>C c.(1618-1620)Gag>Cag p.E540Q VARS2_ENST00000542001.1_Missense_Mutation_p.E400Q|VARS2_ENST00000476162.1_3'UTR|VARS2_ENST00000541562.1_Missense_Mutation_p.E570Q|VARS2_ENST00000416670.2_Missense_Mutation_p.E540Q Q5ST30 SYVM_HUMAN valyl-tRNA synthetase 2, mitochondrial 540 valyl-tRNA aminoacylation mitochondrion ATP binding|valine-tRNA ligase activity central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1) 46 CCTGGTTGTAGAGGACCATGC 0.612000 25 61 0 0 1 0 0 AEN 64782 broad.mit.edu 37 15 89173447 89173447 + Missense_Mutation SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr15:89173447G>A ENST00000332810.3 + 4 1051 c.900G>A c.(898-900)atG>atA p.M300I AEN_ENST00000379231.3_Missense_Mutation_p.M300I NM_022767.3 NP_073604.3 Q8WTP8 AEN_HUMAN apoptosis enhancing nuclease 300 apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|response to ionizing radiation nucleolus|nucleoplasm exonuclease activity|nucleic acid binding NS(1)|kidney(1)|large_intestine(1)|lung(4) 7 AACAGTACATGGAGGACCAGT 0.647000 5 8 0 0 1 0 0 PRKDC 5591 broad.mit.edu 37 8 48740729 48740729 + Splice_Site SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr8:48740729C>T ENST00000314191.2 - 63 8630 c.8574G>A c.(8572-8574)caG>caA p.Q2858Q PRKDC_ENST00000338368.3_Splice_Site_p.Q2858Q|PRKDC_ENST00000523565.1_5'UTR NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 2859 KIP-binding. cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) CAGACTTTACCTGAATACAAG 0.383000 Non-homologous end-joining 16 11 0 0 1 0 0 SPACA3 124912 broad.mit.edu 37 17 31324480 31324480 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr17:31324480C>T ENST00000580599.1 + 5 722 c.313C>T c.(313-315)Ctc>Ttc p.L105F SPACA3_ENST00000394637.2_3'UTR|SPACA3_ENST00000269053.3_Missense_Mutation_p.L174F|SPACA3_ENST00000394638.1_Missense_Mutation_p.L71F Q8IXA5 SACA3_HUMAN sperm acrosome associated 3 174 cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus acrosomal membrane|extracellular region|integral to membrane|lysosome bacterial cell surface binding|lysozyme activity|protein binding breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(9;0.193) GAATCCTAATCTCAAGGATAC 0.498000 55 101 0 0 1 0 0 VASH1 22846 broad.mit.edu 37 14 77242405 77242405 + Missense_Mutation SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr14:77242405G>A ENST00000167106.4 + 5 1334 c.701G>A c.(700-702)cGc>cAc p.R234H VASH1_ENST00000556038.1_3'UTR|RP11-488C13.6_ENST00000556368.1_RNA NM_014909.4 NP_055724.1 Q7L8A9 VASH1_HUMAN vasohibin 1 234 cell cycle arrest|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of endothelial cell proliferation endoplasmic reticulum|extracellular space breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|urinary_tract(3) 10 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0283) CCCGCCTTCCGCACGCTCAGC 0.672000 7 19 0 0 1 0 0 SMURF1 57154 broad.mit.edu 37 7 98645380 98645380 + Missense_Mutation SNP C C A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr7:98645380C>A ENST00000361125.1 - 11 1476 c.1157G>T c.(1156-1158)aGa>aTa p.R386I AC004893.11_ENST00000468960.2_RNA|AC004893.11_ENST00000482799.2_RNA|SMURF1_ENST00000361368.2_Missense_Mutation_p.R360I NM_020429.2 NP_065162.1 Q9HCE7 SMUF1_HUMAN SMAD specific E3 ubiquitin protein ligase 1 386 BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process cytosol|plasma membrane activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1) 25 all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224) CAGTTCGTGTCTGAGGACTTT 0.562000 70 264 1.77791e-30 1.96184e-30 1 1 0 PCDH8 5100 broad.mit.edu 37 13 53420180 53420180 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr13:53420180C>T ENST00000377942.3 - 1 2595 c.2392G>A c.(2392-2394)Gga>Aga p.G798R PCDH8_ENST00000338862.4_Intron NM_002590.3 NP_002581.2 O95206 PCDH8_HUMAN protocadherin 8 798 cell-cell signaling|homophilic cell adhesion cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane calcium ion binding breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1) 36 Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.19e-08) GCCGAGGCTccgccgcccgcc 0.756000 4 12 0 0 1 0 0 ZKSCAN1 7586 broad.mit.edu 37 7 99621898 99621898 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr7:99621898C>T ENST00000324306.6 + 3 782 c.548C>T c.(547-549)tCg>tTg p.S183L ZKSCAN1_ENST00000426572.1_Missense_Mutation_p.S147L|ZKSCAN1_ENST00000535170.1_Intron NM_003439.1 NP_003430.1 P17029 ZKSC1_HUMAN zinc finger with KRAB and SCAN domains 1 183 viral reproduction mitochondrion|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439) STAD - Stomach adenocarcinoma(171;0.129) TTCAAACATTCGTCTCGGAAA 0.532000 17 57 0 0 1 0 0 POLK 51426 broad.mit.edu 37 5 74892196 74892196 + Missense_Mutation SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr5:74892196G>A ENST00000241436.4 + 13 1850 c.1678G>A c.(1678-1680)Gaa>Aaa p.E560K POLK_ENST00000506928.1_3'UTR|POLK_ENST00000380481.3_Missense_Mutation_p.E470K|POLK_ENST00000508526.1_Missense_Mutation_p.E362K|POLK_ENST00000352007.5_Missense_Mutation_p.E362K|POLK_ENST00000504026.1_Intron NM_016218.2 NP_057302.1 Q9UBT6 POLK_HUMAN polymerase (DNA directed) kappa 560 DNA replication|nucleotide-excision repair, DNA gap filling nucleus damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 27 all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42) AAAACCTCTAGAAATGTCTCA 0.358000 DNA polymerases (catalytic subunits) 24 23 0 0 1 0 0 DUSP11 8446 broad.mit.edu 37 2 73993695 73993695 + Nonsense_Mutation SNP G G C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr2:73993695G>C ENST00000272444.3 - 8 826 c.785C>G c.(784-786)tCa>tGa p.S262* DUSP11_ENST00000480948.1_Intron NM_003584.2 NP_003575.2 O75319 DUS11_HUMAN dual specificity phosphatase 11 (RNA/RNP complex 1-interacting) 215 RNA processing nucleus protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|RNA binding breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|skin(1) 12 AAAATCACTTGACCTGGGTAC 0.378000 74 43 0 0 1 0 0 POLK 51426 broad.mit.edu 37 5 74877153 74877153 + Missense_Mutation SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr5:74877153G>A ENST00000241436.4 + 7 986 c.814G>A c.(814-816)Gaa>Aaa p.E272K POLK_ENST00000506928.1_3'UTR|POLK_ENST00000380481.3_Missense_Mutation_p.E182K|POLK_ENST00000508526.1_Missense_Mutation_p.E272K|POLK_ENST00000352007.5_Missense_Mutation_p.E272K|POLK_ENST00000515295.1_Missense_Mutation_p.E272K|POLK_ENST00000504026.1_Missense_Mutation_p.E272K NM_016218.2 NP_057302.1 Q9UBT6 POLK_HUMAN polymerase (DNA directed) kappa 272 UmuC. DNA replication|nucleotide-excision repair, DNA gap filling nucleus damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 27 all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42) AGTGAACTTTGAAGAACAAAA 0.408000 DNA polymerases (catalytic subunits) 24 38 0 0 1 0 0 KIAA0922 23240 broad.mit.edu 37 4 154544213 154544213 + Silent SNP C C T rs140734056 byFrequency TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr4:154544213C>T ENST00000409663.3 + 29 4072 c.4020C>T c.(4018-4020)gaC>gaT p.D1340D KIAA0922_ENST00000440693.1_Silent_p.D1257D|KIAA0922_ENST00000409959.3_Silent_p.D1341D NM_015196.3 NP_056011.3 A2VDJ0 T131L_HUMAN KIAA0922 1340 integral to membrane breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 all_hematologic(180;0.093) Renal(120;0.118) CCATGGTGGACGCCCAGCACT 0.682000 8 57 0 0 1 0 0 IP6K1 9807 broad.mit.edu 37 3 49770248 49770248 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr3:49770248C>T ENST00000321599.4 - 4 893 c.592G>A c.(592-594)Gag>Aag p.E198K IP6K1_ENST00000460540.1_Missense_Mutation_p.E33K|IP6K1_ENST00000468463.1_Missense_Mutation_p.E198K|IP6K1_ENST00000395238.1_Missense_Mutation_p.E33K NM_001242829.1|NM_153273.3 NP_001229758.1|NP_695005.1 Q92551 IP6K1_HUMAN inositol hexakisphosphate kinase 1 198 phosphatidylinositol phosphorylation cytoplasm|nucleus ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|skin(2) 15 TCCTTGGACTCGGAGCGCATG 0.567000 18 44 0 0 1 0 0 NDE1 54820 broad.mit.edu 37 16 15758666 15758666 + Missense_Mutation SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr16:15758666G>A ENST00000396355.1 + 3 857 c.31G>A c.(31-33)Gag>Aag p.E11K NDE1_ENST00000342673.5_Missense_Mutation_p.E11K|NDE1_ENST00000396354.1_Missense_Mutation_p.E11K|NDE1_ENST00000396353.2_Missense_Mutation_p.E11K NM_001143979.1 NP_001137451.1 Q9NXR1 NDE1_HUMAN nudE neurodevelopment protein 1 11 Self-association (By similarity). cell differentiation|cell division|centrosome duplication|establishment of chromosome localization|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|mitotic prometaphase|nervous system development cleavage furrow|condensed chromosome kinetochore|cytosol|microtubule|spindle pole centrosome microtubule binding endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1) 13 TTTCAGCTCCGAGGAGGAAGA 0.433000 46 98 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103468019 103468019 + Missense_Mutation SNP C C G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr1:103468019C>G ENST00000358392.2 - 23 2415 c.2098G>C c.(2098-2100)Ggg>Cgg p.G700R COL11A1_ENST00000370096.3_Missense_Mutation_p.G688R|COL11A1_ENST00000353414.4_Missense_Mutation_p.G649R|COL11A1_ENST00000461720.1_5'UTR|COL11A1_ENST00000512756.1_Missense_Mutation_p.G572R NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 688 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) CCTGGAGGCCCAGGCTCCCCT 0.423000 7 7 0 0 1 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37508817 37508817 + Missense_Mutation SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr10:37508817G>A ENST00000374660.1 + 40 4465 c.4366G>A c.(4366-4368)Gaa>Aaa p.E1456K ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E1337K|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.E1337K Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 1393 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 AGAGAAAGCAGAAACAGAAGT 0.279000 2 12 0 0 1 0 0 INADL 10207 broad.mit.edu 37 1 62263087 62263087 + Silent SNP A A G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr1:62263087A>G ENST00000371158.2 + 11 1503 c.1389A>G c.(1387-1389)ccA>ccG p.P463P INADL_ENST00000316485.6_Silent_p.P463P NM_176877.2 NP_795352 Q8NI35 INADL_HUMAN InaD-like (Drosophila) 463 intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3) 103 CACTTGAACCACCTTCAGACA 0.448000 122 58 0 0 1 0 0 FLOT1 10211 broad.mit.edu 37 6 30698322 30698322 + Silent SNP G G C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr6:30698322G>C ENST00000376389.3 - 11 1192 c.972C>G c.(970-972)gcC>gcG p.A324A FLOT1_ENST00000456573.2_Silent_p.A276A NM_005803.2 NP_005794.1 O75955 FLOT1_HUMAN flotillin 1 324 centriolar satellite|endosome|integral to membrane|melanosome|membrane fraction breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1) 13 CTATGGCAAAGGCCTCAGCTT 0.567000 25 249 0 0 1 0 0 ADCY2 108 broad.mit.edu 37 5 7520895 7520895 + Silent SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr5:7520895G>A ENST00000338316.4 + 3 542 c.453G>A c.(451-453)ctG>ctA p.L151L NM_020546.2 NP_065433.2 Q08462 ADCY2_HUMAN adenylate cyclase 2 (brain) 151 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 119 ACACCATGCTGCCCTTCAACA 0.522000 32 150 0 0 1 0 0 MYOZ1 58529 broad.mit.edu 37 10 75391879 75391879 + Missense_Mutation SNP G G T rs149293567 TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr10:75391879G>T ENST00000359322.4 - 6 1073 c.709C>A c.(709-711)Cgc>Agc p.R237S NM_021245.3 NP_067068.1 Q9NP98 MYOZ1_HUMAN myozenin 1 237 myofibril assembly nucleus|pseudopodium FATZ binding central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2) 12 Prostate(51;0.0112) AAGGTCATGCGTTTGGAGGCC 0.473000 11 60 0.000673444 0.000684134 1 1 0 ABCA9 10350 broad.mit.edu 37 17 66979930 66979930 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr17:66979930C>T ENST00000340001.4 - 36 4771 c.4560G>A c.(4558-4560)atG>atA p.M1520I ABCA9_ENST00000453985.2_Missense_Mutation_p.M1482I|ABCA9_ENST00000370732.2_3'UTR NM_080283.3 NP_525022.2 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A (ABC1), member 9 1520 ABC transporter 2. 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) TCTTCAGCTTCATCTCCAGCA 0.468000 21 78 0 0 1 0 0 OS9 10956 broad.mit.edu 37 12 58110272 58110272 + Missense_Mutation SNP G G C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr12:58110272G>C ENST00000315970.7 + 8 1011 c.970G>C c.(970-972)Gga>Cga p.G324R OS9_ENST00000435406.2_Missense_Mutation_p.G272R|OS9_ENST00000439210.2_Missense_Mutation_p.G265R|OS9_ENST00000257966.8_Missense_Mutation_p.G325R|OS9_ENST00000552285.1_Missense_Mutation_p.G324R|RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000389142.5_Missense_Mutation_p.G324R|OS9_ENST00000551035.1_Missense_Mutation_p.G292R|OS9_ENST00000413095.2_Intron|OS9_ENST00000389146.6_Missense_Mutation_p.G324R NM_001017958.2|NM_006812.3 NP_001017958.1|NP_006803.1 Q13438 OS9_HUMAN osteosarcoma amplified 9, endoplasmic reticulum lectin 324 ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex glycoprotein binding|protein binding|sugar binding autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 21 all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122) BRCA - Breast invasive adenocarcinoma(9;0.109) CCAGGCCCCAGGAGGGGAGGA 0.597000 2 6 0 0 1 0 0 ANLN 54443 broad.mit.edu 37 7 36438775 36438775 + Missense_Mutation SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr7:36438775C>T ENST00000265748.2 + 3 481 c.260C>T c.(259-261)cCa>cTa p.P87L ANLN_ENST00000396068.2_Missense_Mutation_p.P87L NM_018685.2 NP_061155.2 Q9NQW6 ANLN_HUMAN anillin, actin binding protein 87 Interaction with CD2AP.|Nuclear localization. cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly actomyosin contractile ring|nucleus actin binding breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2) 45 AATAAACAACCAGTTGAGTCG 0.418000 14 51 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77764196 77764196 + Missense_Mutation SNP C C G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr8:77764196C>G ENST00000521891.2 + 10 5487 c.5039C>G c.(5038-5040)tCt>tGt p.S1680C ZFHX4_ENST00000455469.2_Missense_Mutation_p.S1635C|ZFHX4_ENST00000050961.6_Missense_Mutation_p.S1635C|ZFHX4_ENST00000518282.1_Missense_Mutation_p.S1654C NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 1635 Gln-rich. 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) GATTTAATCTCTGCTCAACCT 0.418000 HNSCC(33;0.089) 54 31 0 0 1 0 0 LRRC37A11P 342666 broad.mit.edu 37 17 37187969 37187969 + RNA SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr17:37187969C>T ENST00000425901.2 + 0 1811 NR_033753.2 TCCAGAGCTACGTAAGGAGGT 0.493000 8 69 0 0 1 0 0 SLC22A25 387601 broad.mit.edu 37 11 62951183 62951183 + Missense_Mutation SNP C C G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr11:62951183C>G ENST00000403374.2 - 6 742 c.439G>C c.(439-441)Gac>Cac p.D147H SLC22A25_ENST00000306494.6_Missense_Mutation_p.D313H|SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000525620.1_Intron Q6T423 S22AP_HUMAN solute carrier family 22, member 25 313 transmembrane transport integral to membrane NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7) 34 GTTAGGATGTCTTCAGCATTC 0.438000 94 173 0 0 1 0 0 FOXE1 2304 broad.mit.edu 37 9 100617151 100617151 + Missense_Mutation SNP G G C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr9:100617151G>C ENST00000375123.3 + 1 1616 c.955G>C c.(955-957)Gag>Cag p.E319Q NM_004473.3 NP_004464.2 O00358 FOXE1_HUMAN forkhead box E1 (thyroid transcription factor 2) 319 cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1) 5 Acute lymphoblastic leukemia(62;0.158) TGGCGGCGTGGAGACCACGGT 0.751000 8 3 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76445638 76445638 + Missense_Mutation SNP A A T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr17:76445638A>T ENST00000389840.5 - 69 11151 c.11027T>A c.(11026-11028)aTc>aAc p.I3676N DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.I3685N dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) GGTCCTCTGGATGGCTTTCTC 0.617000 4 11 0 0 1 0 0 CRYAB 1410 broad.mit.edu 37 11 111780950 111780950 + Missense_Mutation SNP G G T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr11:111780950G>T ENST00000533971.1 - 2 516 c.425C>A c.(424-426)cCa>cAa p.P142Q CRYAB_ENST00000525823.1_Intron|CRYAB_ENST00000526180.1_Intron|CRYAB_ENST00000527950.1_Intron|CRYAB_ENST00000533475.1_Intron|CRYAB_ENST00000227251.3_Intron|CRYAB_ENST00000531198.1_Intron|CRYAB_ENST00000533280.1_Intron P02511 CRYAB_HUMAN crystallin, alpha B 0 anti-apoptosis|muscle contraction|negative regulation of intracellular transport|protein folding|protein homooligomerization|response to heat cytoplasm|nucleus protein homodimerization activity|structural constituent of eye lens|unfolded protein binding endometrium(1)|large_intestine(1)|lung(2)|skin(4) 8 all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051) GTTATGGCTTGGGACTGGAAT 0.418000 6 22 0.248553 0.249854 1 1 0 IQGAP3 128239 broad.mit.edu 37 1 156530742 156530743 + Frame_Shift_Ins INS - - C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr1:156530742_156530743insC ENST00000361170.2 - 11 1122_1123 c.1112_1113insG c.(1111-1113)ggtfs p.G371fs NM_178229.4 NP_839943.2 Q86VI3 IQGA3_HUMAN IQ motif containing GTPase activating protein 3 371 small GTPase mediated signal transduction intracellular calmodulin binding|Ras GTPase activator activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3) 75 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GTTCCTGATCACCCTTTGTGTT 0.525 7 113 --- --- --- --- FAM177A1P1 728710 broad.mit.edu 37 4 99877753 99877753 + RNA DEL A A - rs33952764 TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr4:99877753delA ENST00000583654.1 + 0 237 actctgtctcaaaaaaaaaaa 0.448 4 5 --- --- --- --- ANXA6 309 broad.mit.edu 37 5 150515861 150515861 + Frame_Shift_Del DEL C C - TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr5:150515861delC ENST00000354546.5 - 7 672 c.445delG c.(445-447)gacfs p.D149fs ANXA6_ENST00000523714.1_Frame_Shift_Del_p.D117fs|ANXA6_ENST00000377751.5_Intron|ANXA6_ENST00000521512.1_Intron|ANXA6_ENST00000356496.5_Frame_Shift_Del_p.D149fs NM_001155.4 NP_001146.2 P08133 ANXA6_HUMAN annexin A6 149 melanosome calcium ion binding|calcium-dependent phospholipid binding|protein binding endometrium(2)|kidney(1)|lung(9) 12 Medulloblastoma(196;0.0912)|all_hematologic(541;0.208) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCAGAGGTGTCGCCGATGATG 0.547 27 34 --- --- --- --- CPXM2 119587 broad.mit.edu 37 10 125528165 125528167 + In_Frame_Del DEL CAG CAG - TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr10:125528165_125528167delCAG ENST00000241305.3 - 9 1328_1330 c.1174_1176delCTG c.(1174-1176)ctgdel p.L392del CPXM2_ENST00000368854.3_5'UTR NM_198148.2 NP_937791.2 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 392 Poly-Leu. cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3) 47 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) CGAACTGCACCAGCAGCAGCAGC 0.626 7 154 --- --- --- --- OVCH2 341277 broad.mit.edu 37 11 7720159 7720160 + RNA INS - - T rs71470493 by1000genomes TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr11:7720159_7720160insT ENST00000454689.1 - 0 925 OVCH2_ENST00000534193.2_RNA NM_198185.3 NP_937828.3 ovochymase 2 (gene/pseudogene) cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2) 15 Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197) GGCATAATGGCTGTAGGTGCTC 0.475 2 4 --- --- --- --- PCNXL3 399909 broad.mit.edu 37 11 65393419 65393421 + In_Frame_Del DEL CTT CTT - TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr11:65393419_65393421delCTT ENST00000355703.3 + 20 3812_3814 c.3273_3275delCTT c.(3271-3276)ggcttc>ggc p.F1093del NM_032223.2 NP_115599.2 Q9H6A9 PCX3_HUMAN pecanex-like 3 (Drosophila) 1093 integral to membrane breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1) 13 GGGCCGTGGGCTTCTTCACACAT 0.606 OREG0021084 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 26 --- --- --- --- RB1 5925 broad.mit.edu 37 13 49037882 49037897 + Frame_Shift_Del DEL ATGTATGGCATATGCA ATGTATGGCATATGCA - rs137853296 TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr13:49037882_49037897delATGTATGGCATATGCA ENST00000267163.4 + 21 2260_2275 c.2122_2137delATGTATGGCATATGCA c.(2122-2139)atgtatggcatatgcaaafs p.MYGICK708fs NM_000321.2 NP_000312.2 P06400 RB_HUMAN retinoblastoma 1 708 Domain B.|Pocket; binds T and E1A. androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.0?(15)|p.?(10)|p.I703_E737del(2)|p.C712_A727del(1) NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31) 496 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GATGTGTTCCATGTATGGCATATGCAAAGTGAAGAA 0.296 6 """D, Mis, N, F, S""" """retinoblastoma, sarcoma, breast, small cell lung""" """retinoblastoma, sarcoma, breast, small cell lung""" Hereditary Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 8 36 --- --- --- --- OR4N4 283694 broad.mit.edu 37 15 22382920 22382921 + Frame_Shift_Ins INS - - T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr15:22382920_22382921insT ENST00000328795.4 + 1 539_540 c.448_449insT c.(448-450)cttfs p.L150fs RP11-69H14.6_ENST00000558896.1_RNA NM_001005241.2 NP_001005241.2 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, member 4 150 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 40 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) GGCTCTGTGGCTTGGGGGTTTT 0.535 23 132 --- --- --- --- SPRED3 399473 broad.mit.edu 37 19 38882864 38882866 + In_Frame_Del DEL CCT CCT - TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr19:38882864_38882866delCCT ENST00000587013.1 + 3 569_571 c.491_493delCCT c.(490-495)ccctcc>ccc p.S172del SPRED3_ENST00000586301.1_In_Frame_Del_p.S128del|SPRED3_ENST00000587564.2_3'UTR|SPRED3_ENST00000338502.4_In_Frame_Del_p.S128del Q2MJR0 SPRE3_HUMAN sprouty-related, EVH1 domain containing 3 128 multicellular organismal development central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1) 9 all_cancers(60;3.4e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) TCACTCAccccctcctcctcctc 0.645 7 46 --- --- --- --- MMP9 4318 broad.mit.edu 37 20 44639945 44639945 + Frame_Shift_Del DEL C C - TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a310d405-19f3-4dfb-be83-c4e2d949c067 0c579d4b-726a-4969-acb5-e0f3b977778e g.chr20:44639945delC ENST00000372330.3 + 5 832 c.813delC c.(811-813)tgcfs p.C271fs NM_004994.2 NP_004985.2 P14780 MMP9_HUMAN matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) 271 Fibronectin type-II 1. collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis extracellular space|proteinaceous extracellular matrix collagen binding|metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3) 46 Myeloproliferative disorder(115;0.0122) Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641) TTGGCTTCTGCCCCAGCGAGA 0.657 39 82 --- --- --- ---