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 MCMDC2 157777 broad.mit.edu 37 8 67786675 67786675 + Missense_Mutation SNP C C T TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr8:67786675C>T ENST00000422365.2 + 3 380 c.209C>T c.(208-210)gCt>gTt p.A70V MCMDC2_ENST00000492775.1_Missense_Mutation_p.A70V|MCMDC2_ENST00000313616.5_Missense_Mutation_p.A70V|MCMDC2_ENST00000469823.1_3'UTR|MCMDC2_ENST00000396592.3_Missense_Mutation_p.A70V|MCMDC2_ENST00000541540.1_Intron NM_173518.4 NP_775789.3 Q4G0Z9 CH045_HUMAN minichromosome maintenance domain containing 2 70 DNA replication ATP binding|DNA binding endometrium(2)|kidney(2)|lung(5) 9 TTAAAAGCTGCTGAAGTCTTT 0.308000 4 42 0 0 1 0 0 NCKAP5 344148 broad.mit.edu 37 2 133539877 133539877 + Missense_Mutation SNP C C A TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr2:133539877C>A ENST00000409261.1 - 14 4880 c.4507G>T c.(4507-4509)Ggg>Tgg p.G1503W NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.G1503W NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 1503 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 AAAGAAGGCCCAGGCTTCTGC 0.458000 23 37 3.5997e-14 4.45488e-14 1 1 0 AQR 9716 broad.mit.edu 37 15 35196564 35196564 + Missense_Mutation SNP C C G TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr15:35196564C>G ENST00000156471.5 - 19 2199 c.1974G>C c.(1972-1974)agG>agC p.R658S NM_014691.2 NP_055506.1 O60306 AQR_HUMAN aquarius intron-binding spliceosomal factor 658 catalytic step 2 spliceosome RNA binding p.R658R(1) breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 57 Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08) all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283) TTGGTTTTCTCCTCATTATTA 0.289000 7 32 0 0 1 0 0 CTBP2 1488 broad.mit.edu 37 10 126715728 126715728 + Missense_Mutation SNP C C T TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr10:126715728C>T ENST00000309035.6 - 1 731 c.601G>A c.(601-603)Gag>Aag p.E201K CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000411419.2_Intron|CTBP2_ENST00000531469.1_Intron|CTBP2_ENST00000337195.5_Intron NM_022802.2 NP_073713.2 P56545 CTBP2_HUMAN C-terminal binding protein 2 0 negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation cell junction|synapse|transcriptional repressor complex NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173) Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147) GCAGGCACCTCCGCCCCATAC 0.647000 10 63 0 0 1 0 0 UNC13D 201294 broad.mit.edu 37 17 73831565 73831565 + Silent SNP C C T TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr17:73831565C>T ENST00000207549.4 - 20 2152 c.1773G>A c.(1771-1773)ccG>ccA p.P591P UNC13D_ENST00000412096.2_Silent_p.P591P NM_199242.2 NP_954712.1 Q70J99 UN13D_HUMAN unc-13 homolog D (C. elegans) 591 MHD1. positive regulation of exocytosis|regulation of mast cell degranulation exocytic vesicle|late endosome|lysosome|membrane|recycling endosome protein binding central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154) AGGGGATGGCCGGCTGGAACC 0.692000 Familial Hemophagocytic Lymphohistiocytosis 4 14 0 0 1 0 0 ABCC5 10057 broad.mit.edu 37 3 183646567 183646567 + Missense_Mutation SNP C C T TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr3:183646567C>T ENST00000334444.6 - 27 4141 c.3901G>A c.(3901-3903)Gat>Aat p.D1301N ABCC5_ENST00000265586.6_Missense_Mutation_p.D1258N NM_005688.2 NP_005679.2 O15440 MRP5_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 5 1301 ABC transporter 2. integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_cancers(143;1.85e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) TCCAGGGCATCCCAAATCTGG 0.517000 15 61 0 0 1 0 0 MAP3K19 80122 broad.mit.edu 37 2 135738623 135738623 + Missense_Mutation SNP T T C TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr2:135738623T>C ENST00000375845.3 - 9 3718 c.3688A>G c.(3688-3690)Act>Gct p.T1230A MAP3K19_ENST00000392915.1_3'UTR|MAP3K19_ENST00000315513.3_Missense_Mutation_p.T91A|MAP3K19_ENST00000392917.3_Missense_Mutation_p.T362A|MAP3K19_ENST00000358371.4_Missense_Mutation_p.T1117A|MAP3K19_ENST00000392918.3_Missense_Mutation_p.T364A|MAP3K19_ENST00000375844.3_Missense_Mutation_p.T412A NM_025052.3 NP_079328.3 mitogen-activated protein kinase kinase kinase 19 CAATATGGAGTCCCATGCATG 0.478000 21 31 0 0 1 0 0 LAMA4 3910 broad.mit.edu 37 6 112528290 112528290 + Silent SNP G G T rs144933976 TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr6:112528290G>T ENST00000230538.7 - 4 751 c.354C>A c.(352-354)atC>atA p.I118I LAMA4_ENST00000424408.2_Silent_p.I118I|LAMA4_ENST00000522006.1_Silent_p.I118I|LAMA4_ENST00000524032.1_5'UTR|LAMA4_ENST00000389463.4_Silent_p.I118I NM_001105206.2 NP_001098676.2 Q16363 LAMA4_HUMAN laminin, alpha 4 118 Laminin EGF-like 1. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) TGGAATCTCCGATATAACCAT 0.502000 16 50 3.41278e-10 4.04478e-10 1 1 0 RTEL1 51750 broad.mit.edu 37 20 62326924 62326924 + Missense_Mutation SNP G G C TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr20:62326924G>C ENST00000318100.4 + 34 4570 c.3743G>C c.(3742-3744)gGg>gCg p.G1248A RTEL1_ENST00000360203.5_Missense_Mutation_p.G1248A|RTEL1_ENST00000508582.2_Intron|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.G1248A|RTEL1_ENST00000370003.1_Missense_Mutation_p.G493A|RTEL1_ENST00000370018.3_Intron Q9NZ71 RTEL1_HUMAN regulator of telomere elongation helicase 1 0 DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13) Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107) CAGGGCTGTGGGGCAGAGGAC 0.672000 9 46 0 0 1 0 0 WDR3 10885 broad.mit.edu 37 1 118476009 118476009 + Missense_Mutation SNP A A G TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr1:118476009A>G ENST00000349139.4 + 2 114 c.67A>G c.(67-69)Aaa>Gaa p.K23E WDR3_ENST00000369441.3_Missense_Mutation_p.K23E|WDR3_ENST00000471680.1_3'UTR NM_006784.2 NP_006775.1 Q9UNX4 WDR3_HUMAN WD repeat domain 3 23 nuclear membrane|nucleolus breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1) 49 Esophageal squamous(2;0.162) all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244) OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185) CGGCAGCCAAAAAGGTAATAT 0.468000 20 61 0 0 1 0 0 PRDM16 63976 broad.mit.edu 37 1 3328722 3328722 + Missense_Mutation SNP C C T TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr1:3328722C>T ENST00000378398.3 + 10 2046 c.1964C>T c.(1963-1965)gCg>gTg p.A655V PRDM16_ENST00000514189.1_Missense_Mutation_p.A655V|PRDM16_ENST00000511072.1_Missense_Mutation_p.A655V|PRDM16_ENST00000442529.2_Missense_Mutation_p.A654V|PRDM16_ENST00000441472.2_Missense_Mutation_p.A654V|PRDM16_ENST00000378391.2_Missense_Mutation_p.A654V|PRDM16_ENST00000270722.5_Missense_Mutation_p.A654V|PRDM16_ENST00000512462.1_3'UTR Q9HAZ2 PRD16_HUMAN PR domain containing 16 654 brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3) 59 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) GGCGGCTTGGCGCCCCCGGGG 0.682000 T EVI1 """MDS, AML""" 27 65 0 0 1 0 0 SPHKAP 80309 broad.mit.edu 37 2 228883495 228883495 + Missense_Mutation SNP G G A TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr2:228883495G>A ENST00000392056.3 - 7 2121 c.2075C>T c.(2074-2076)cCc>cTc p.P692L SPHKAP_ENST00000344657.5_Missense_Mutation_p.P692L NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 692 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) GTTGTCATTGGGGTCGATTAT 0.393000 68 114 0 0 1 0 0 SLC13A1 6561 broad.mit.edu 37 7 122755657 122755657 + Missense_Mutation SNP C C T TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr7:122755657C>T ENST00000194130.2 - 15 1742 c.1703G>A c.(1702-1704)gGc>gAc p.G568D SLC13A1_ENST00000539873.1_3'UTR NM_022444.3 NP_071889.2 Q9BZW2 S13A1_HUMAN solute carrier family 13 (sodium/sulfate symporter), member 1 568 integral to membrane|plasma membrane sodium:sulfate symporter activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 45 Succinic acid(DB00139) AGTACATATGCCAAGCATAAC 0.433000 32 43 0 0 1 0 0 ARID5B 84159 broad.mit.edu 37 10 63852132 63852132 + Missense_Mutation SNP A A T TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr10:63852132A>T ENST00000279873.7 + 10 3320 c.2910A>T c.(2908-2910)gaA>gaT p.E970D ARID5B_ENST00000309334.5_Missense_Mutation_p.E727D NM_032199.2 NP_115575.1 Q14865 ARI5B_HUMAN AT rich interactive domain 5B (MRF1-like) 970 liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent protein binding|transcription regulatory region DNA binding NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 Prostate(12;0.016)|all_hematologic(501;0.215) AATACCCTGAATCGCTTTCAA 0.522000 18 98 0 0 1 0 0 LRP5 4041 broad.mit.edu 37 11 68207277 68207277 + Missense_Mutation SNP G G T TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr11:68207277G>T ENST00000294304.7 + 21 4487 c.4381G>T c.(4381-4383)Gtg>Ttg p.V1461L NM_002335.2 NP_002326.2 O75197 LRP5_HUMAN low density lipoprotein receptor-related protein 5 1461 adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 GATGAGCTCCGTGAGCCTGAT 0.672000 7 12 6.5536e-12 7.80854e-12 1 1 0 SLC22A15 55356 broad.mit.edu 37 1 116605438 116605438 + Silent SNP G G A TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr1:116605438G>A ENST00000369503.4 + 9 1357 c.1227G>A c.(1225-1227)ctG>ctA p.L409L NM_018420.2 NP_060890.2 Q8IZD6 S22AF_HUMAN solute carrier family 22, member 15 409 ion transport integral to membrane transmembrane transporter activity endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1) 17 Lung SC(450;0.184) all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05) Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12) TGGGGAAGCTGACCATCAGTG 0.483000 57 180 0 0 1 0 0 XAF1 54739 broad.mit.edu 37 17 6674069 6674069 + Silent SNP G G A rs143903776 TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr17:6674069G>A ENST00000361842.3 + 6 854 c.615G>A c.(613-615)acG>acA p.T205T XAF1_ENST00000441631.1_Silent_p.T205T|XAF1_ENST00000346752.4_Silent_p.T186T NM_017523.3 NP_059993.2 Q6GPH4 XAF1_HUMAN XIAP associated factor 1 205 apoptosis|type I interferon-mediated signaling pathway mitochondrion|nucleus zinc ion binding large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1) 6 AAACTTCCACGATGGAGAAAG 0.378000 16 59 0 0 1 0 0 DNAJB8 165721 broad.mit.edu 37 3 128181979 128181979 + Missense_Mutation SNP T T A TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr3:128181979T>A ENST00000469083.1 - 2 2667 c.110A>T c.(109-111)gAc>gTc p.D37V DNAJB8_ENST00000319153.3_Missense_Mutation_p.D37V Q8NHS0 DNJB8_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 8 37 J. protein folding heat shock protein binding|unfolded protein binding kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1) 11 GBM - Glioblastoma multiforme(114;0.177) CTCCTTATTGTCAGGGTTCTT 0.572000 35 135 0 0 1 0 0 MS4A4A 51338 broad.mit.edu 37 11 60068506 60068506 + Silent SNP A A T TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr11:60068506A>T ENST00000355131.3 + 5 529 c.306A>T c.(304-306)gcA>gcT p.A102A MS4A4A_ENST00000395016.3_Silent_p.A102A|MS4A4A_ENST00000532114.1_Silent_p.A121A|MS4A4A_ENST00000337908.4_Silent_p.A121A NM_024021.3 NP_076926.2 Q96JQ5 M4A4A_HUMAN membrane-spanning 4-domains, subfamily A, member 4A 121 integral to membrane receptor activity autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4) 23 CAATTGCAGCAGGAATTAGAA 0.308000 3 21 0 0 1 0 0 LRFN2 57497 broad.mit.edu 37 6 40400630 40400630 + Missense_Mutation SNP T T C TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr6:40400630T>C ENST00000338305.6 - 2 765 c.223A>G c.(223-225)Atg>Gtg p.M75V NM_020737.1 NP_065788.1 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III domain containing 2 75 cell junction|integral to membrane|postsynaptic membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Ovarian(28;0.0418)|Colorectal(47;0.196) AGCCCCGTCATGTTGGCAAAG 0.602000 15 60 0 0 1 0 0 KLC4 89953 broad.mit.edu 37 6 43030739 43030739 + Nonsense_Mutation SNP G G T TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr6:43030739G>T ENST00000394056.2 + 4 838 c.343G>T c.(343-345)Gag>Tag p.E115* KLC4_ENST00000259708.3_Nonsense_Mutation_p.E133*|KLC4_ENST00000479388.1_Nonsense_Mutation_p.E115*|KLC4_ENST00000458460.2_Nonsense_Mutation_p.E115*|KLC4_ENST00000347162.5_Nonsense_Mutation_p.E115*|KLC4_ENST00000394058.1_Nonsense_Mutation_p.E115*|KLC4_ENST00000453940.2_Intron Q9NSK0 KLC4_HUMAN kinesin light chain 4 115 cytoplasm|kinesin complex|microtubule microtubule motor activity|protein binding endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4) 23 all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453) GCTATGCCAGGAGAACCAGTG 0.627000 15 68 5.3912e-06 6.00811e-06 1 1 0 F8 2157 broad.mit.edu 37 X 154158240 154158240 + Silent SNP A A G TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chrX:154158240A>G ENST00000360256.4 - 14 4025 c.3825T>C c.(3823-3825)gaT>gaC p.D1275D NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 1275 B. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) TATTTGTTGAATCATTTAATG 0.373000 9 21 0 0 1 0 0 CHST10 9486 broad.mit.edu 37 2 101009787 101009787 + Missense_Mutation SNP C C G TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr2:101009787C>G ENST00000264249.3 - 7 1376 c.991G>C c.(991-993)Gac>Cac p.D331H CHST10_ENST00000542617.1_Missense_Mutation_p.D379H|CHST10_ENST00000409701.1_Missense_Mutation_p.D331H NM_004854.4 NP_004845.1 O43529 CHSTA_HUMAN carbohydrate sulfotransferase 10 331 carbohydrate biosynthetic process|cell adhesion Golgi membrane|integral to membrane|membrane fraction breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1) 16 CGTCGGATGTCTCGTTTGCTG 0.483000 11 70 0 0 1 0 0 LTA 4049 broad.mit.edu 37 6 31541268 31541268 + Missense_Mutation SNP C C G TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr6:31541268C>G ENST00000454783.1 + 4 674 c.416C>G c.(415-417)tCc>tGc p.S139C LTA_ENST00000418386.2_Missense_Mutation_p.S139C NM_001159740.2 NP_001153212.1 P01374 TNFB_HUMAN lymphotoxin alpha 139 cell-cell signaling|induction of apoptosis|signal transduction extracellular space|membrane cytokine activity|tumor necrosis factor receptor binding endometrium(2)|kidney(2)|lung(4)|upper_aerodigestive_tract(1) 9 Etanercept(DB00005) CAGCTCTTCTCCTCCCAGTAC 0.597000 26 130 0 0 1 0 0 FLT4 2324 broad.mit.edu 37 5 180055919 180055919 + Missense_Mutation SNP C C T TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr5:180055919C>T ENST00000261937.6 - 8 1144 c.1066G>A c.(1066-1068)Gtg>Atg p.V356M FLT4_ENST00000502649.1_Missense_Mutation_p.V356M|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000393347.3_Missense_Mutation_p.V356M NM_182925.4 NP_891555.2 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 356 Ig-like C2-type 4. positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) GCCAGCTTCACGGGCAGCTTC 0.627000 7 45 0 0 1 0 0 CCDC96 257236 broad.mit.edu 37 4 7043919 7043919 + Silent SNP C C T TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr4:7043919C>T ENST00000310085.4 - 1 809 c.747G>A c.(745-747)ctG>ctA p.L249L RP11-367J11.2_ENST00000500031.1_RNA NM_153376.2 NP_699207.1 Q2M329 CCD96_HUMAN coiled-coil domain containing 96 249 endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1) 11 TCTTGTGCTGCAGGTATAGGT 0.652000 32 107 0 0 1 0 0 GRXCR1 389207 broad.mit.edu 37 4 42895620 42895620 + Missense_Mutation SNP G G C TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr4:42895620G>C ENST00000399770.2 + 1 337 c.337G>C c.(337-339)Gtg>Ctg p.V113L NM_001080476.2 NP_001073945.1 A8MXD5 GRCR1_HUMAN glutaredoxin, cysteine rich 1 113 cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development kinocilium|stereocilium electron carrier activity|protein disulfide oxidoreductase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1) 32 CAAATACAAAGTGAGTGCTGG 0.433000 25 82 0 0 1 0 0 TKT 7086 broad.mit.edu 37 3 53260883 53260883 + Missense_Mutation SNP T T C TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr3:53260883T>C ENST00000462138.1 - 13 1673 c.1585A>G c.(1585-1587)Atc>Gtc p.I529V TKT_ENST00000423525.2_Missense_Mutation_p.I529V|TKT_ENST00000296289.6_Missense_Mutation_p.I482V|TKT_ENST00000461139.1_5'UTR|TKT_ENST00000423516.1_Missense_Mutation_p.I537V P29401 TKT_HUMAN transketolase 529 energy reserve metabolic process|xylulose biosynthetic process cytosol protein binding|transketolase activity endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 17 Prostate(884;0.0959) BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201) Thiamine(DB00152) AGCACGCGGATGTTGATCTTT 0.622000 11 32 0 0 1 0 0 SGPP2 130367 broad.mit.edu 37 2 223389711 223389711 + Missense_Mutation SNP G G T TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr2:223389711G>T ENST00000321276.7 + 4 693 c.607G>T c.(607-609)Gtg>Ttg p.V203L NM_152386.2 NP_689599.2 Q8IWX5 SGPP2_HUMAN sphingosine-1-phosphate phosphatase 2 203 sphingosine metabolic process endoplasmic reticulum membrane|integral to membrane dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2) 18 Renal(207;0.0376) Epithelial(121;2.08e-09)|all cancers(144;9.25e-07)|LUSC - Lung squamous cell carcinoma(224;0.011)|Lung(261;0.0143) TTCCACCTTGGTGTGTCTCAG 0.473000 10 27 0.000673444 0.000708223 1 1 0 NCCRP1 342897 broad.mit.edu 37 19 39691035 39691035 + Silent SNP C C T TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr19:39691035C>T ENST00000339852.4 + 5 620 c.598C>T c.(598-600)Ctg>Ttg p.L200L NM_001001414.1 NP_001001414.1 Q6ZVX7 NCRP1_HUMAN non-specific cytotoxic cell receptor protein 1 homolog (zebrafish) 200 FBA. protein catabolic process kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1) 10 GCATGTCTGGCTGCTGGCGGC 0.657000 33 165 0 0 1 0 0 FLT4 2324 broad.mit.edu 37 5 180040050 180040050 + Missense_Mutation SNP C C T TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr5:180040050C>T ENST00000261937.6 - 25 3470 c.3392G>A c.(3391-3393)gGc>gAc p.G1131D FLT4_ENST00000502649.1_Missense_Mutation_p.G1131D|FLT4_ENST00000393347.3_Missense_Mutation_p.G1131D NM_182925.4 NP_891555.2 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 1131 Protein kinase. positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity p.G1131D(2) NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) CATCCTTGTGCCGTCTCTCAG 0.672000 5 103 0 0 1 0 0 PTPRN2 5799 broad.mit.edu 37 7 157959748 157959748 + Missense_Mutation SNP C C T TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr7:157959748C>T ENST00000389413.3 - 6 888 c.785G>A c.(784-786)aGc>aAc p.S262N PTPRN2_ENST00000404321.2_Missense_Mutation_p.S285N|PTPRN2_ENST00000389418.4_Missense_Mutation_p.S262N|PTPRN2_ENST00000389416.4_Missense_Mutation_p.S245N|PTPRN2_ENST00000409483.1_Missense_Mutation_p.S224N NM_130843.2 NP_570858.2 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N polypeptide 2 262 integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 86 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) TGGCTCCAGGCTGCCCTCCCC 0.652000 5 14 0 0 1 0 0 SGTA 6449 broad.mit.edu 37 19 2767677 2767677 + Silent SNP G G A TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr19:2767677G>A ENST00000221566.2 - 3 269 c.108C>T c.(106-108)atC>atT p.I36I NM_003021.3 NP_003012.1 O43765 SGTA_HUMAN small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha 36 interspecies interaction between organisms cytoplasm protein binding endometrium(2)|large_intestine(2)|lung(2)|ovary(1) 7 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCAGGCACTGGATGGCGACTG 0.607000 13 42 0 0 1 0 0 THNSL2 55258 broad.mit.edu 37 2 88472718 88472718 + Missense_Mutation SNP G G T TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr2:88472718G>T ENST00000324166.5 + 1 1740 c.49G>T c.(49-51)Ggg>Tgg p.G17W THNSL2_ENST00000402102.1_Missense_Mutation_p.G17W|THNSL2_ENST00000377254.3_Missense_Mutation_p.G17W|THNSL2_ENST00000358591.2_Missense_Mutation_p.G17W|THNSL2_ENST00000449349.1_Intron|THNSL2_ENST00000343544.4_Missense_Mutation_p.G17W NM_018271.4 NP_060741.3 Q86YJ6 THNS2_HUMAN threonine synthase-like 2 (S. cerevisiae) 17 threonine biosynthetic process threonine synthase activity breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2) 27 CAACTTTGAGGGGGCCCTCTT 0.607000 12 65 1.49906e-05 1.638e-05 1 1 0 DPH7 92715 broad.mit.edu 37 9 140469251 140469251 + Silent SNP C C T TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr9:140469251C>T ENST00000277540.2 - 4 577 c.420G>A c.(418-420)gaG>gaA p.E140E DPH7_ENST00000479650.1_5'UTR NM_138778.2 NP_620133.1 diphthamide biosynthesis 7 CCAGACACTGCTCCTCCAGGG 0.552000 44 165 0 0 1 0 0 GOLGA2 2801 broad.mit.edu 37 9 131022867 131022867 + Silent SNP C C T rs146436048 TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr9:131022867C>T ENST00000421699.2 - 17 1566 c.1554G>A c.(1552-1554)gcG>gcA p.A518A NM_004486.4 NP_004477.3 Q08379 GOGA2_HUMAN golgin A2 518 Golgi cisterna membrane protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 34 TGCGCGCCTCCGCCTGCTCCC 0.667000 110 134 0 0 1 0 0 TNS3 64759 broad.mit.edu 37 7 47408655 47408655 + Missense_Mutation SNP C C T TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr7:47408655C>T ENST00000398879.1 - 17 1954 c.1588G>A c.(1588-1590)Ggt>Agt p.G530S TNS3_ENST00000311160.9_Missense_Mutation_p.G530S|TNS3_ENST00000355730.3_Missense_Mutation_p.G290S Q68CZ2 TENS3_HUMAN tensin 3 530 focal adhesion protein binding NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 64 GGATCTTCACCAACGTTGCTG 0.632000 14 60 0 0 1 0 0 DMGDH 29958 broad.mit.edu 37 5 78329100 78329100 + Missense_Mutation SNP T T C TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr5:78329100T>C ENST00000255189.3 - 8 1353 c.1325A>G c.(1324-1326)gAg>gGg p.E442G DMGDH_ENST00000380311.4_Missense_Mutation_p.E241G|DMGDH_ENST00000540686.1_Missense_Mutation_p.E62G NM_013391.2 NP_037523.2 Q9UI17 M2GD_HUMAN dimethylglycine dehydrogenase 442 choline metabolic process|glycine catabolic process mitochondrial matrix aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 34 all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192) OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35) TGCTTTGGCCTCAGTGTACTG 0.398000 15 41 0 0 1 0 0 SOX17 64321 broad.mit.edu 37 8 55371663 55371663 + Missense_Mutation SNP T T C TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr8:55371663T>C ENST00000297316.4 + 2 557 c.353T>C c.(352-354)gTg>gCg p.V118A NM_022454.3 NP_071899.1 Q9H6I2 SOX17_HUMAN SRY (sex determining region Y)-box 17 118 angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway transcription factor complex beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1) 18 Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181) OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159) CGGCCCTTCGTGGAGGAGGCA 0.687000 7 22 0 0 1 0 0 NFE2L2 4780 broad.mit.edu 37 2 178095647 178095647 + Missense_Mutation SNP G G A TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr2:178095647G>A ENST00000397062.3 - 5 2238 c.1684C>T c.(1684-1686)Ctc>Ttc p.L562F NFE2L2_ENST00000397063.4_Missense_Mutation_p.L546F|NFE2L2_ENST00000464747.1_Missense_Mutation_p.L546F|NFE2L2_ENST00000446151.2_Missense_Mutation_p.L539F NM_006164.4 NP_006155.2 Q16236 NF2L2_HUMAN nuclear factor, erythroid 2-like 2 562 transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 158 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) AAAACTTCGAGATATAAGGTG 0.363000 Mis """NSCLC, HNSCC""" HNSCC(56;0.16) 37 59 0 0 1 0 0 SLC22A20 440044 broad.mit.edu 37 11 65003880 65003880 + RNA SNP G G A TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr11:65003880G>A ENST00000525437.1 + 0 1297 A6NK97 S22AK_HUMAN ion transport integral to membrane transmembrane transporter activity central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2) 8 CCCTGTCTAGGCACGCAGATC 0.642000 3 6 0 0 1 0 0 PROS1 5627 broad.mit.edu 37 3 93603706 93603706 + Missense_Mutation SNP C C A TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr3:93603706C>A ENST00000394236.3 - 12 1674 c.1358G>T c.(1357-1359)tGg>tTg p.W453L PROS1_ENST00000407433.1_Missense_Mutation_p.W322L NM_000313.3 NP_000304.2 P07225 PROS_HUMAN protein S (alpha) 453 Laminin G-like 1. leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen calcium ion binding|endopeptidase inhibitor activity endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1) 46 Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170) CATCAAATTCCAGCTTCGTAT 0.363000 3 23 0.115264 0.11736 1 1 0 MS4A2 2206 broad.mit.edu 37 11 59857931 59857931 + Missense_Mutation SNP G G T TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr11:59857931G>T ENST00000278888.3 + 3 411 c.309G>T c.(307-309)tgG>tgT p.W103C NM_000139.4 NP_000130.1 Q01362 FCERB_HUMAN membrane-spanning 4-domains, subfamily A, member 2 103 cell proliferation|humoral immune response integral to plasma membrane calcium channel activity endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2) 17 all_epithelial(135;0.245) Omalizumab(DB00043) ATCCATTCTGGGGAGCCATAT 0.343000 10 49 1.58986e-06 1.78065e-06 1 1 0 SVEP1 79987 broad.mit.edu 37 9 113170218 113170218 + Silent SNP G G T TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr9:113170218G>T ENST00000401783.2 - 38 7998 c.7662C>A c.(7660-7662)atC>atA p.I2554I SVEP1_ENST00000374469.1_Silent_p.I2531I|SVEP1_ENST00000297826.5_Silent_p.I480I NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 2554 Sushi 20. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 AATCACAGTGGATGGCATTGC 0.493000 12 25 6.42651e-13 7.78129e-13 1 1 0 RP11-383H13.1 0 broad.mit.edu 37 8 72755775 72755775 + Missense_Mutation SNP C C A TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr8:72755775C>A ENST00000537896.1 + 1 409 c.139C>A c.(139-141)Cac>Aac p.H47N RP11-383H13.1_ENST00000521467.1_Intron|MSC_ENST00000325509.4_Intron lung(1) 1 CCAGAACCTCCACCCCTTTCG 0.607000 OREG0018826 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 16 0.217242 0.218216 1 1 0 FSTL3 10272 broad.mit.edu 37 19 681501 681501 + Missense_Mutation SNP G G A TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr19:681501G>A ENST00000166139.4 + 4 706 c.674G>A c.(673-675)cGc>cAc p.R225H FSTL3_ENST00000592947.1_3'UTR NM_005860.2 NP_005851.1 O95633 FSTL3_HUMAN follistatin-like 3 (secreted glycoprotein) 225 Kazal-like 2. hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of osteoclast differentiation|ossification|positive regulation of cell-cell adhesion|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent extracellular space|nucleus activin binding|fibronectin binding all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TGCCACATGCGCCAGGCCACC 0.716000 T CCND1 B-CLL 7 24 0 0 1 0 0 KSR2 283455 broad.mit.edu 37 12 117969469 117969469 + Splice_Site SNP A A C TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr12:117969469A>C ENST00000425217.1 - 11 1697 c.e11+1 KSR2_ENST00000545002.1_Splice_Site|KSR2_ENST00000302438.5_Splice_Site|KSR2_ENST00000339824.5_Splice_Site NM_173598.4 NP_775869.3 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CATGAAACTCACCTGGGAAGA 0.507000 8 33 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179590206 179590206 + Missense_Mutation SNP C C T TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr2:179590206C>T ENST00000589042.1 - 71 20949 c.20725G>A c.(20725-20727)Gtt>Att p.V6909I TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.V5665I|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V6592I NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 6592 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AGAGTTGCAACATTTTCCACA 0.418000 11 27 0 0 1 0 0 FZD1 8321 broad.mit.edu 37 7 90895775 90895775 + Missense_Mutation SNP C C T TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr7:90895775C>T ENST00000287934.2 + 1 1993 c.1580C>T c.(1579-1581)aCc>aTc p.T527I NM_003505.1 NP_003496.1 Q9UP38 FZD1_HUMAN frizzled family receptor 1 527 autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215) STAD - Stomach adenocarcinoma(171;0.0134) GGCACCAAGACCGAGAAGCTG 0.582000 25 140 0 0 1 0 0 HLA-A 3105 broad.mit.edu 37 6 29910587 29910587 + Nonsense_Mutation SNP G G T rs41549014 TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr6:29910587G>T ENST00000396634.1 + 4 468 c.127G>T c.(127-129)Gag>Tag p.E43* HLA-A_ENST00000376806.5_Nonsense_Mutation_p.E43*|HLA-A_ENST00000376802.2_Nonsense_Mutation_p.E43*|HLA-A_ENST00000376809.5_Nonsense_Mutation_p.E43* P30443 1A01_HUMAN major histocompatibility complex, class I, A 43 Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity p.E43*(1)|p.R41fs*31(1) central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 30 CGGCCGCGGGGAGCCCCGCTT 0.706000 Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of Multiple Myeloma(9;0.094) 4 39 0.184627 0.186291 1 1 0 AFF2 2334 broad.mit.edu 37 X 148037675 148037675 + Silent SNP T T A TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chrX:148037675T>A ENST00000370460.2 + 11 2579 c.2100T>A c.(2098-2100)ccT>ccA p.P700P AFF2_ENST00000342251.3_Silent_p.P667P|AFF2_ENST00000286437.5_Silent_p.P341P|AFF2_ENST00000370457.5_Silent_p.P667P NM_001169123.1|NM_002025.3 NP_001162594.1|NP_002016.2 P51816 AFF2_HUMAN AF4/FMR2 family, member 2 700 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) ACAGAGGGCCTGGCAAGATTG 0.498000 29 46 0 0 1 0 0 IGKV1-16 28938 broad.mit.edu 37 2 89399811 89399811 + RNA SNP A A G TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr2:89399811A>G ENST00000479981.1 - 0 43 GAGCTGAGCGAGGACTCTCAT 0.532000 20 55 0 0 1 0 0 CORO2B 10391 broad.mit.edu 37 15 69003107 69003107 + Missense_Mutation SNP C C T TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr15:69003107C>T ENST00000543950.1 + 4 709 c.355C>T c.(355-357)Cgg>Tgg p.R119W CORO2B_ENST00000540068.1_Missense_Mutation_p.R119W|CORO2B_ENST00000566799.1_Missense_Mutation_p.R124W|CORO2B_ENST00000261861.5_Missense_Mutation_p.R119W NM_001190457.1 NP_001177386.1 Q9UQ03 COR2B_HUMAN coronin, actin binding protein, 2B 124 actin cytoskeleton organization actin cytoskeleton|cytoplasm|membrane actin filament binding kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 CGGGCTGAAGCGGAACATGAC 0.657000 3 17 0 0 1 0 0 CARF 79800 broad.mit.edu 37 2 203847117 203847117 + Missense_Mutation SNP A A T TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr2:203847117A>T ENST00000320443.8 + 15 3055 c.2012A>T c.(2011-2013)gAt>gTt p.D671V CARF_ENST00000414439.1_Missense_Mutation_p.D569V|CARF_ENST00000438828.2_Missense_Mutation_p.D671V|CARF_ENST00000402905.2_Missense_Mutation_p.D671V|CARF_ENST00000545253.1_Missense_Mutation_p.D583V|CARF_ENST00000545262.1_Missense_Mutation_p.D595V|WDR12_ENST00000477723.1_Intron|CARF_ENST00000428585.1_Missense_Mutation_p.D595V calcium responsive transcription factor CTGTTGGGAGATGTGCAGACT 0.388000 14 39 0 0 1 0 0 PAM 5066 broad.mit.edu 37 5 102342554 102342554 + Missense_Mutation SNP G G T TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr5:102342554G>T ENST00000438793.3 + 18 2323 c.1853G>T c.(1852-1854)gGa>gTa p.G618V PAM_ENST00000304400.7_Missense_Mutation_p.G618V|PAM_ENST00000346918.2_Missense_Mutation_p.G618V|PAM_ENST00000455264.2_Missense_Mutation_p.G618V|PAM_ENST00000379787.4_5'UTR|PAM_ENST00000348126.2_Missense_Mutation_p.G511V|PAM_ENST00000274392.9_Missense_Mutation_p.G521V NM_000919.3|NM_001177306.1|NM_138766.2 NP_000910.2|NP_001170777.1|NP_620121.1 P19021 AMD_HUMAN peptidylglycine alpha-amidating monooxygenase 618 Peptidyl-alpha-hydroxyglycine alpha- amidating lyase (By similarity). peptide metabolic process|protein modification process extracellular region|integral to membrane|stored secretory granule L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1) 25 all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284) Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127) Vitamin C(DB00126) TTAATCCTGGGAAGGAGCATG 0.433000 25 81 1.17739e-12 1.41794e-12 1 1 0 CUBN 8029 broad.mit.edu 37 10 17152949 17152949 + Silent SNP A A T TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr10:17152949A>T ENST00000377833.4 - 9 1049 c.984T>A c.(982-984)ccT>ccA p.P328P NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 328 EGF-like 4; calcium-binding (Potential). cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GGGAAGACCCAGGTGTATTCA 0.517000 12 52 0 0 1 0 0 HFM1 164045 broad.mit.edu 37 1 91818136 91818136 + Missense_Mutation SNP T T C TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr1:91818136T>C ENST00000370425.3 - 16 2002 c.1904A>G c.(1903-1905)tAt>tGt p.Y635C HFM1_ENST00000370424.3_Missense_Mutation_p.Y314C|HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000294696.5_5'UTR NM_001017975.3 NP_001017975.3 A2PYH4 HFM1_HUMAN HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) 635 Helicase C-terminal. ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 75 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) TCCTCCAGCATAATGCATTGT 0.358000 7 35 0 0 1 0 0 RASGRF1 5923 broad.mit.edu 37 15 79350810 79350810 + Missense_Mutation SNP C C T rs140019990 TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr15:79350810C>T ENST00000419573.3 - 3 671 c.397G>A c.(397-399)Gcc>Acc p.A133T RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.A133T NM_002891.4 NP_002882.3 Q13972 RGRF1_HUMAN Ras protein-specific guanine nucleotide-releasing factor 1 133 activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 TGCTCTGTGGCGAGGGTCCTG 0.577000 8 55 0 0 1 0 0 SLC7A13 157724 broad.mit.edu 37 8 87242429 87242429 + Silent SNP G G A TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr8:87242429G>A ENST00000297524.3 - 1 181 c.78C>T c.(76-78)atC>atT p.I26I SLC7A13_ENST00000520624.1_Intron|SLC7A13_ENST00000419776.2_Silent_p.I26I NM_138817.2 NP_620172.2 Q8TCU3 S7A13_HUMAN solute carrier family 7 (anionic amino acid transporter), member 13 26 integral to membrane amino acid transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 45 CTGCACCAATGATATTAATAA 0.433000 13 73 0 0 1 0 0 OR2B3 442184 broad.mit.edu 37 6 29054372 29054372 + Silent SNP A A G TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr6:29054372A>G ENST00000377173.2 - 1 718 c.654T>C c.(652-654)taT>taC p.Y218Y NM_001005226.2 NP_001005226.1 olfactory receptor, family 2, subfamily B, member 3 breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2) 24 CTATGAAGCCATAGGAGATGA 0.428000 12 60 0 0 1 0 0 PHF7 51533 broad.mit.edu 37 3 52457249 52457249 + Silent SNP G G A TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr3:52457249G>A ENST00000327906.3 + 11 1722 c.1062G>A c.(1060-1062)aaG>aaA p.K354K PHF7_ENST00000478707.1_Silent_p.K354K|PHF7_ENST00000347025.2_Silent_p.K315K NM_016483.4 NP_057567.3 Q9BWX1 PHF7_HUMAN PHD finger protein 7 354 nucleus zinc ion binding breast(2)|large_intestine(4)|lung(3) 9 BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275) TATTAGAAAAGCCAGAGTCCT 0.498000 13 50 0 0 1 0 0 DMWD 1762 broad.mit.edu 37 19 46289614 46289614 + Silent SNP G G A TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr19:46289614G>A ENST00000270223.6 - 3 1185 c.1140C>T c.(1138-1140)acC>acT p.T380T DMWD_ENST00000377735.3_Silent_p.T380T NM_004943.1 NP_004934.1 Q09019 DMWD_HUMAN dystrophia myotonica, WD repeat containing 380 meiosis central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 16 Ovarian(192;0.0308)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236) CTGCCCTTGTGGTGTAGGGGT 0.687000 25 76 0 0 1 0 0 MYO19 80179 broad.mit.edu 37 17 34859817 34859817 + Missense_Mutation SNP T T C TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr17:34859817T>C ENST00000431794.3 - 20 2471 c.1949A>G c.(1948-1950)cAt>cGt p.H650R MYO19_ENST00000268852.9_Missense_Mutation_p.H450R NM_001163735.1 NP_001157207.1 Q96H55 MYO19_HUMAN myosin XIX 650 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) AGCACTGATATGGATGGTCTC 0.637000 4 10 0 0 1 0 0 RSF1 51773 broad.mit.edu 37 11 77402211 77402211 + Nonsense_Mutation SNP C C A TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr11:77402211C>A ENST00000308488.6 - 9 3195 c.2893G>T c.(2893-2895)Gaa>Taa p.E965* RSF1_ENST00000360355.2_Nonsense_Mutation_p.E934*|RSF1_ENST00000480887.1_Nonsense_Mutation_p.E713* Q96T23 RSF1_HUMAN remodeling and spacing factor 1 965 CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent RSF complex histone binding|protein binding|zinc ion binding breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152) Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31) TACCTTCGTTCGGCACGCTCT 0.353000 17 57 5.35267e-07 6.02511e-07 1 1 0 OR11H6 122748 broad.mit.edu 37 14 20692042 20692042 + Silent SNP A A G TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr14:20692042A>G ENST00000315519.2 + 1 252 c.174A>G c.(172-174)ctA>ctG p.L58L NM_001004480.1 NP_001004480.1 Q8NGC7 O11H6_HUMAN olfactory receptor, family 11, subfamily H, member 6 58 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2) 29 all_cancers(95;0.00108) Epithelial(56;1.75e-06)|all cancers(55;1.22e-05) GBM - Glioblastoma multiforme(265;0.0143) TGACACTGCTAGGGAATGGAG 0.478000 13 64 0 0 1 0 0 HTR1A 3350 broad.mit.edu 37 5 63256403 63256403 + Missense_Mutation SNP C C T TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr5:63256403C>T ENST00000323865.3 - 1 1377 c.1144G>A c.(1144-1146)Ggc>Agc p.G382S RP11-158J3.2_ENST00000502882.1_RNA NM_000524.3 NP_000515.2 P08908 5HT1A_HUMAN 5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled 382 behavior|positive regulation of cell proliferation integral to plasma membrane serotonin receptor activity cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 56 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234) Lung(70;0.105) Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) ATTATGGCGCCCAACAGGGTG 0.512000 49 184 0 0 1 0 0 PCDH11Y 83259 broad.mit.edu 37 Y 4968437 4968437 + Missense_Mutation SNP C C T TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chrY:4968437C>T ENST00000333703.4 + 5 3298 c.2785C>T c.(2785-2787)Cct>Tct p.P929S PCDH11Y_ENST00000362095.5_Missense_Mutation_p.P940S|PCDH11Y_ENST00000215473.6_Missense_Mutation_p.P940S NM_001278619.1|NM_032971.2 NP_001265548.1|NP_116753.1 Q9BZA8 PC11Y_HUMAN protocadherin 11 Y-linked 940 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 ACTAGACCTTCCTATTGATCT 0.428000 29 33 0 0 1 0 0 FAM20B 9917 broad.mit.edu 37 1 179041168 179041168 + Silent SNP C C T TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr1:179041168C>T ENST00000263733.4 + 8 1455 c.1119C>T c.(1117-1119)gaC>gaT p.D373D NM_014864.3 NP_055679.1 O75063 XYLK_HUMAN family with sequence similarity 20, member B 373 Golgi membrane|integral to membrane ATP binding|kinase activity|phosphotransferase activity, alcohol group as acceptor breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3) 14 CTCATCTGGACGCCGTGGACC 0.552000 14 71 0 0 1 0 0 EML4 27436 broad.mit.edu 37 2 42531679 42531679 + Missense_Mutation SNP C C A TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr2:42531679C>A ENST00000318522.5 + 17 2217 c.1955C>A c.(1954-1956)aCg>aAg p.T652K EML4_ENST00000401738.3_Missense_Mutation_p.T663K|EML4_ENST00000453191.2_5'UTR|EML4_ENST00000402711.2_Missense_Mutation_p.T594K NM_019063.3 NP_061936.2 Q9HC35 EMAL4_HUMAN echinoderm microtubule associated protein like 4 652 microtubule-based process|mitosis cytoplasm|microtubule protein binding EML4/ALK(543) NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 12 GCCATAGGAACGCACTCAGGC 0.448000 T ALK NSCLC 14 83 3.32936e-07 3.76655e-07 1 1 0 MIR517C 574492 broad.mit.edu 37 19 54244625 54244625 + RNA SNP C C G TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr19:54244625C>G ENST00000385103.1 + 0 59 NR_030214.1 AAGAAAAGATCGTGCATCCTT 0.403000 9 50 0 0 1 0 0 CDH4 1002 broad.mit.edu 37 20 60427861 60427861 + Missense_Mutation SNP G G C TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr20:60427861G>C ENST00000360469.5 + 6 872 c.784G>C c.(784-786)Gac>Cac p.D262H CDH4_ENST00000543233.1_Missense_Mutation_p.D188H NM_001794.3 NP_001785.2 P55283 CADH4_HUMAN cadherin 4, type 1, R-cadherin (retinal) 262 Cadherin 1. 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) GAACCCCATCGACCTGTACAT 0.597000 27 93 0 0 1 0 0 TMTC4 84899 broad.mit.edu 37 13 101266634 101266634 + Silent SNP G G T TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr13:101266634G>T ENST00000342624.5 - 16 2145 c.1887C>A c.(1885-1887)gcC>gcA p.A629A TMTC4_ENST00000328767.5_Silent_p.A499A|TMTC4_ENST00000376234.3_Silent_p.A610A NM_032813.2 NP_116202.2 Q5T4D3 TMTC4_HUMAN transmembrane and tetratricopeptide repeat containing 4 610 integral to membrane binding breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) TCAGCACGGTGGCATTTCTCC 0.448000 21 79 9.90768e-06 1.09326e-05 1 1 0 LPCAT3 10162 broad.mit.edu 37 12 7086357 7086357 + Missense_Mutation SNP A A T TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr12:7086357A>T ENST00000261407.4 - 12 1500 c.1415T>A c.(1414-1416)aTt>aAt p.I472N U47924.19_ENST00000564245.1_RNA|LPCAT3_ENST00000535021.1_5'UTR NM_005768.5 NP_005759.4 Q6P1A2 MBOA5_HUMAN lysophosphatidylcholine acyltransferase 3 472 phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane 1-acylglycerophosphocholine O-acyltransferase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2) 17 TGCTTTGTGAATATAAGGCAA 0.403000 11 42 0 0 1 0 0 ADAMTS9 56999 broad.mit.edu 37 3 64526828 64526828 + Missense_Mutation SNP C C A rs140548078 TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr3:64526828C>A ENST00000498707.1 - 36 5806 c.5464G>T c.(5464-5466)Gct>Tct p.A1822S ADAMTS9_ENST00000295903.4_Missense_Mutation_p.A1794S NM_182920.1 NP_891550.1 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 9 1822 GON. 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) GAAAACCCAGCGGCCGTGTAA 0.468000 14 58 0.000151284 0.00016137 1 1 0 DIAPH3 81624 broad.mit.edu 37 13 60566632 60566632 + Missense_Mutation SNP C C T TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr13:60566632C>T ENST00000400324.4 - 10 1320 c.1100G>A c.(1099-1101)cGt>cAt p.R367H DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400319.1_Missense_Mutation_p.R297H|DIAPH3_ENST00000400320.1_Missense_Mutation_p.R321H|DIAPH3_ENST00000400330.1_Missense_Mutation_p.R367H|DIAPH3_ENST00000377908.2_Missense_Mutation_p.R356H|DIAPH3_ENST00000267215.4_Missense_Mutation_p.R367H NM_001042517.1|NM_001258366.1 NP_001035982.1|NP_001245295.1 Q9NSV4 DIAP3_HUMAN diaphanous-related formin 3 367 GBD/FH3. actin cytoskeleton organization actin binding|Rho GTPase binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;2.77e-05) CAATCCACAACGCATAAATTC 0.363000 5 16 0 0 1 0 0 FPGT-TNNI3K 100526835 broad.mit.edu 37 1 74808611 74808611 + Missense_Mutation SNP A A T TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr1:74808611A>T ENST00000370895.1 + 10 1106 c.1071A>T c.(1069-1071)caA>caT p.Q357H TNNI3K_ENST00000370891.2_Missense_Mutation_p.Q357H|TNNI3K_ENST00000326637.3_Missense_Mutation_p.Q256H|RP11-439H8.4_ENST00000415549.2_RNA|FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.Q357H|FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.Q357H Q59H18 TNI3K_HUMAN 256 cytoplasm|nucleus ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding ATCTGCTGCAAAGTGATTTGG 0.393000 9 49 0 0 1 0 0 CACNA1C 775 broad.mit.edu 37 12 2694584 2694584 + Silent SNP G G T TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr12:2694584G>T ENST00000399655.1 + 17 2647 c.2382G>T c.(2380-2382)ccG>ccT p.P794P CACNA1C_ENST00000399603.1_Silent_p.P794P|CACNA1C_ENST00000327702.7_Silent_p.P794P|CACNA1C_ENST00000399606.1_Silent_p.P794P|CACNA1C_ENST00000399621.1_Silent_p.P794P|CACNA1C_ENST00000399637.1_Silent_p.P794P|CACNA1C_ENST00000399591.1_Silent_p.P794P|CACNA1C_ENST00000399649.1_Silent_p.P794P|CACNA1C_ENST00000399597.1_Silent_p.P794P|CACNA1C_ENST00000406454.3_Silent_p.P794P|CACNA1C_ENST00000399595.1_Silent_p.P794P|CACNA1C_ENST00000480911.1_Silent_p.P794P|CACNA1C_ENST00000402845.3_Silent_p.P794P|CACNA1C_ENST00000335762.5_Silent_p.P819P|CACNA1C_ENST00000399634.1_Silent_p.P794P|CACNA1C_ENST00000399641.1_Silent_p.P794P|CACNA1C_ENST00000347598.4_Silent_p.P794P|CACNA1C_ENST00000399617.1_Silent_p.P794P|CACNA1C_ENST00000344100.3_Silent_p.P794P|CACNA1C_ENST00000399601.1_Silent_p.P794P|CACNA1C_ENST00000399629.1_Silent_p.P794P|CACNA1C_ENST00000399638.1_Silent_p.P794P|CACNA1C_ENST00000399644.1_Silent_p.P794P NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 794 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) TGGAGAAGCCGGCAGTGGGGG 0.537000 7 10 0.0477658 0.0493066 1 1 0 COBL 23242 broad.mit.edu 37 7 51093059 51093059 + Missense_Mutation SNP G G C TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr7:51093059G>C ENST00000395542.2 - 14 3945 c.3761C>G c.(3760-3762)tCt>tGt p.S1254C COBL_ENST00000265136.7_Missense_Mutation_p.S1172C O75128 COBL_HUMAN cordon-bleu WH2 repeat protein 1172 WH2 3. NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Glioma(55;0.08) CTCAGAAGCAGAGGATGCCAC 0.527000 8 51 0 0 1 0 0 ZNF518B 85460 broad.mit.edu 37 4 10445837 10445837 + Missense_Mutation SNP C C G TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr4:10445837C>G ENST00000326756.3 - 3 2554 c.2116G>C c.(2116-2118)Ggt>Cgt p.G706R NM_053042.2 NP_444270.2 Q9C0D4 Z518B_HUMAN zinc finger protein 518B 706 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 42 TCTTGAATACCTTCAGAGGTA 0.463000 16 59 0 0 1 0 0 OR6A2 8590 broad.mit.edu 37 11 6816034 6816034 + Silent SNP G G T TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr11:6816034G>T ENST00000332601.3 - 1 1094 c.906C>A c.(904-906)gtC>gtA p.V302V NM_003696.2 NP_003687.2 O95222 OR6A2_HUMAN olfactory receptor, family 6, subfamily A, member 2 302 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 29 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) GGGCTCTCTTGACCTCTTGAT 0.463000 12 60 7.03913e-09 8.16976e-09 1 1 0 BICD1 636 broad.mit.edu 37 12 32481214 32481214 + Missense_Mutation SNP T T A TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr12:32481214T>A ENST00000548411.1 + 5 2006 c.1825T>A c.(1825-1827)Tca>Aca p.S609T BICD1_ENST00000281474.5_Missense_Mutation_p.S609T NM_001003398.1 NP_001003398.1 Q96G01 BICD1_HUMAN bicaudal D homolog 1 (Drosophila) 609 anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0201) TGCCCCACCGTCATCTCCAGT 0.463000 21 108 0 0 1 0 0 IRX2 153572 broad.mit.edu 37 5 2748564 2748564 + Missense_Mutation SNP C C A TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr5:2748564C>A ENST00000382611.6 - 3 1506 c.1258G>T c.(1258-1260)Gcc>Tcc p.A420S IRX2_ENST00000302057.5_Missense_Mutation_p.A420S NM_001134222.1 NP_001127694.1 Q9BZI1 IRX2_HUMAN iroquois homeobox 2 420 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2) 26 GBM - Glioblastoma multiforme(108;0.204) GTGTGCAGGGCCTCGCCGGGG 0.721000 9 15 3.09899e-07 3.52372e-07 1 1 0 ARF4 378 broad.mit.edu 37 3 57561386 57561386 + Silent SNP T T C TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr3:57561386T>C ENST00000303436.6 - 5 612 c.345A>G c.(343-345)gaA>gaG p.E115E ARF4_ENST00000496292.1_Silent_p.E88E|ARF4_ENST00000489843.1_Silent_p.E6E NM_001660.3 NP_001651.1 P18085 ARF4_HUMAN ADP-ribosylation factor 4 115 protein transport|small GTPase mediated signal transduction|vesicle-mediated transport Golgi apparatus GTP binding|GTPase activity large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 7 KIRC - Kidney renal clear cell carcinoma(284;0.0449)|Kidney(284;0.0561) CATCTCTCAATTCATCTACCA 0.378000 21 53 0 0 1 0 0 OR4D10 390197 broad.mit.edu 37 11 59245110 59245110 + Missense_Mutation SNP G G A TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr11:59245110G>A ENST00000530162.1 + 1 265 c.208G>A c.(208-210)Gat>Aat p.D70N NM_001004705.1 NP_001004705.1 Q8NGI6 OR4DA_HUMAN olfactory receptor, family 4, subfamily D, member 10 70 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 ATCTATTGCCGATATCTGCTT 0.443000 32 103 0 0 1 0 0 DOCK5 80005 broad.mit.edu 37 8 25249422 25249422 + Missense_Mutation SNP G G A TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr8:25249422G>A ENST00000276440.7 + 43 4410 c.4366G>A c.(4366-4368)Gcc>Acc p.A1456T NM_024940.6 NP_079216.4 Q9H7D0 DOCK5_HUMAN dedicator of cytokinesis 5 1456 DHR-2. cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143) UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828) CTACTACAGAGCCAATGAAGT 0.438000 6 23 0 0 1 0 0 CHDC2 286464 broad.mit.edu 37 X 36156478 36156478 + Missense_Mutation SNP T T A TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chrX:36156478T>A ENST00000378660.1 + 10 1345 c.1157T>A c.(1156-1158)tTt>tAt p.F386Y CHDC2_ENST00000313548.4_Missense_Mutation_p.F386Y calponin homology domain containing 2 GAGTCTCATTTTATAAATATG 0.284000 5 3 0 0 1 0 0 DNMT3A 1788 broad.mit.edu 37 2 25457192 25457192 + Missense_Mutation SNP G G A TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr2:25457192G>A ENST00000264709.3 - 23 3032 c.2695C>T c.(2695-2697)Cgc>Tgc p.R899C DNMT3A_ENST00000402667.1_Missense_Mutation_p.R676C|DNMT3A_ENST00000321117.5_Missense_Mutation_p.R899C|DNMT3A_ENST00000380746.4_Missense_Mutation_p.R710C NM_175629.2 NP_783328.1 Q9Y6K1 DNM3A_HUMAN DNA (cytosine-5-)-methyltransferase 3 alpha 899 regulation of gene expression by genetic imprinting cytoplasm|euchromatin|nuclear matrix DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 1021 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AAGAGGTGGCGGATGACTGGC 0.527000 """Mis, F, N, S""" AML 10 47 0 0 1 0 0 PCDHGB7 56099 broad.mit.edu 37 5 140798237 140798237 + Missense_Mutation SNP G G C TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr5:140798237G>C ENST00000398594.2 + 1 811 c.811G>C c.(811-813)Gag>Cag p.E271Q PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018927.3 NP_061750.1 p.E271*(1) central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3) 56 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGACCAGGACGAGGGCATCAA 0.527000 12 26 0 0 1 0 0 PARK2 5071 broad.mit.edu 37 6 161771199 161771199 + Missense_Mutation SNP C C G TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr6:161771199C>G ENST00000366898.1 - 12 1432 c.1330G>C c.(1330-1332)Gag>Cag p.E444Q PARK2_ENST00000338468.3_Missense_Mutation_p.E253Q|PARK2_ENST00000366894.1_Missense_Mutation_p.E253Q|PARK2_ENST00000366896.1_Missense_Mutation_p.E295Q|PARK2_ENST00000366897.1_Missense_Mutation_p.E416Q NM_004562.2 NP_004553.2 O60260 PRKN2_HUMAN parkin RBR E3 ubiquitin protein ligase 444 aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 39 all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102) UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046) CAGCACCACTCGAGCCTGCAC 0.627000 6 26 0 0 1 0 0 ZNF473 25888 broad.mit.edu 37 19 50550296 50550296 + Nonsense_Mutation SNP A A T TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr19:50550296A>T ENST00000595661.1 + 6 3091 c.2596A>T c.(2596-2598)Aag>Tag p.K866* ZNF473_ENST00000445728.3_Nonsense_Mutation_p.K854*|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000601364.1_Intron|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000270617.3_Nonsense_Mutation_p.K866*|ZNF473_ENST00000391821.2_Nonsense_Mutation_p.K866* Q8WTR7 ZN473_HUMAN zinc finger protein 473 866 histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription Cajal body DNA binding|protein binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 37 all_neural(266;0.0459)|Ovarian(192;0.0728) GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058) TGTACACAACAAGCAGCAATA 0.507000 OREG0025632 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 32 0 0 1 0 0 DPYD 1806 broad.mit.edu 37 1 98206024 98206024 + Missense_Mutation SNP C C A TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr1:98206024C>A ENST00000370192.3 - 4 345 c.245G>T c.(244-246)tGt>tTt p.C82F DPYD_ENST00000306031.5_Missense_Mutation_p.C82F|DPYD_ENST00000423006.2_Missense_Mutation_p.C45F NM_000110.3 NP_000101.2 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase 82 4Fe-4S ferredoxin-type 1. 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) GGCATCTGCACATTTCAGGCA 0.343000 13 55 9.31168e-06 1.03258e-05 1 1 0 FAR2 55711 broad.mit.edu 37 12 29485551 29485551 + Missense_Mutation SNP C C T TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr12:29485551C>T ENST00000182377.4 + 11 1544 c.1276C>T c.(1276-1278)Cgc>Tgc p.R426C FAR2_ENST00000547116.1_Missense_Mutation_p.R329C|FAR2_ENST00000536681.2_Missense_Mutation_p.R426C NM_018099.3 NP_060569.3 Q96K12 FACR2_HUMAN fatty acyl CoA reductase 2 426 ether lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor p.R426C(1) central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1) 29 CTTTGACGTGCGCCAGTTGAA 0.403000 9 39 0 0 1 0 0 MRPS2 51116 broad.mit.edu 37 9 138395634 138395634 + Silent SNP C C T TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr9:138395634C>T ENST00000371785.1 + 5 755 c.546C>T c.(544-546)ctC>ctT p.L182L MRPS2_ENST00000241600.5_Silent_p.L182L|MRPS2_ENST00000488610.1_3'UTR|RP11-426A6.5_ENST00000415062.1_RNA Q9Y399 RT02_HUMAN mitochondrial ribosomal protein S2 182 translation mitochondrion|small ribosomal subunit structural constituent of ribosome large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1) 6 OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42) CGCGCCTCCTCTTTGGCCCCA 0.607000 19 32 0 0 1 0 0 FARSA 2193 broad.mit.edu 37 19 13035338 13035338 + Missense_Mutation SNP T T C TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr19:13035338T>C ENST00000588025.1 - 12 1458 c.1318A>G c.(1318-1320)Atc>Gtc p.I440V FARSA_ENST00000423140.2_Missense_Mutation_p.I369V|FARSA_ENST00000314606.4_Missense_Mutation_p.I400V Q9Y285 SYFA_HUMAN phenylalanyl-tRNA synthetase, alpha subunit 400 phenylalanyl-tRNA aminoacylation cytosol|soluble fraction ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1) 20 L-Phenylalanine(DB00120) AGTTGCGTGATACCTGCAGGA 0.612000 23 86 0 0 1 0 0 ZBTB20 26137 broad.mit.edu 37 3 114069659 114069659 + Missense_Mutation SNP C C A TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr3:114069659C>A ENST00000462705.1 - 11 1868 c.1047G>T c.(1045-1047)caG>caT p.Q349H ZBTB20_ENST00000481632.1_Missense_Mutation_p.Q349H|ZBTB20_ENST00000471418.1_Missense_Mutation_p.Q349H|ZBTB20_ENST00000393785.2_Missense_Mutation_p.Q349H|ZBTB20_ENST00000357258.3_Missense_Mutation_p.Q349H|ZBTB20_ENST00000474710.1_Missense_Mutation_p.Q422H|ZBTB20_ENST00000464560.1_Missense_Mutation_p.Q349H NM_001164343.1 NP_001157815.1 Q9HC78 ZBT20_HUMAN zinc finger and BTB domain containing 20 422 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191) GCTGGTTTGTCTGCGGACCAC 0.617000 18 73 6.94344e-10 8.1431e-10 1 1 0 GRM1 2911 broad.mit.edu 37 6 146673616 146673616 + Missense_Mutation SNP G G A TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr6:146673616G>A ENST00000392299.2 + 5 1887 c.1417G>A c.(1417-1419)Gga>Aga p.G473R GRM1_ENST00000355289.4_Missense_Mutation_p.G473R|GRM1_ENST00000507907.1_Missense_Mutation_p.G473R|GRM1_ENST00000492807.2_Missense_Mutation_p.G473R|GRM1_ENST00000361719.2_Missense_Mutation_p.G473R|GRM1_ENST00000282753.1_Missense_Mutation_p.G473R Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 473 synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) TGATGAGAAAGGAGACGCTCC 0.493000 27 141 0 0 1 0 0 NRXN2 9379 broad.mit.edu 37 11 64418741 64418741 + Silent SNP G G T TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr11:64418741G>T ENST00000265459.6 - 14 3365 c.2904C>A c.(2902-2904)atC>atA p.I968I NRXN2_ENST00000409571.1_Silent_p.I961I|NRXN2_ENST00000377551.1_Silent_p.I968I|NRXN2_ENST00000377559.3_Silent_p.I928I|AP001092.4_ENST00000433606.1_RNA NM_015080.3 NP_055895.1 Q9P2S2 NRX2A_HUMAN neurexin 2 968 Laminin G-like 5. cell adhesion integral to membrane metal ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 71 TGACCAGCTCGATGACAATGA 0.577000 OREG0004037|OREG0021057 type=REGULATORY REGION|Gene=AL137356|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 44 0.000673444 0.000708223 1 1 0 NPLOC4 55666 broad.mit.edu 37 17 79526391 79526391 + Missense_Mutation SNP C C A TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr17:79526391C>A ENST00000331134.6 - 17 1936 c.1721G>T c.(1720-1722)gGc>gTc p.G574V NPLOC4_ENST00000572760.1_Missense_Mutation_p.A39S|NPLOC4_ENST00000573876.1_Missense_Mutation_p.A39S NM_017921.2 NP_060391.2 Q8TAT6 NPL4_HUMAN nuclear protein localization 4 homolog (S. cerevisiae) 574 cellular membrane fusion|ER-associated protein catabolic process|Golgi organization cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus zinc ion binding central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1) 11 all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739) GTGTGTGGAGCCCCCGACGGC 0.632000 6 17 0.00116845 0.00122305 1 1 0 C12orf4 57102 broad.mit.edu 37 12 4639058 4639058 + Silent SNP C C T rs144033494 TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr12:4639058C>T ENST00000261250.3 - 4 570 c.483G>A c.(481-483)gtG>gtA p.V161V C12orf4_ENST00000545746.1_Silent_p.V161V NM_020374.2 NP_065107.1 Q9NQ89 CL004_HUMAN chromosome 12 open reading frame 4 161 NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1) 13 Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229) BRCA - Breast invasive adenocarcinoma(232;0.0281) TTTTCAGCTCCACATCTCTTT 0.333000 8 42 0 0 1 0 0 MMP27 64066 broad.mit.edu 37 11 102567145 102567145 + Missense_Mutation SNP C C T TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr11:102567145C>T ENST00000260229.4 - 6 950 c.859G>A c.(859-861)Gct>Act p.A287T NM_022122.2 NP_071405.2 Q9H306 MMP27_HUMAN matrix metallopeptidase 27 287 Hemopexin-like 1. collagen catabolic process|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176) BRCA - Breast invasive adenocarcinoma(274;0.0151) GTTGTGATAGCGTCAAAAGTC 0.408000 7 53 0 0 1 0 0 MAST2 23139 broad.mit.edu 37 1 46496942 46496942 + Missense_Mutation SNP G G A rs56114653 TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr1:46496942G>A ENST00000361297.2 + 23 3255 c.2972G>A c.(2971-2973)cGg>cAg p.R991Q MAST2_ENST00000372009.2_Missense_Mutation_p.R921Q|MAST2_ENST00000372008.1_Intron NM_015112.2 NP_055927.2 Q6P0Q8 MAST2_HUMAN microtubule associated serine/threonine kinase 2 991 R -> L (in dbSNP:rs56114653). regulation of interleukin-12 biosynthetic process|spermatid differentiation cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity breast(1)|lung(3)|ovary(5)|stomach(2) 11 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184) GCTGTTGGCCGGAGCAGTGGT 0.622000 3 40 0 0 1 0 0 F5 2153 broad.mit.edu 37 1 169509963 169509963 + Silent SNP T T C TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr1:169509963T>C ENST00000367796.3 - 13 4581 c.4380A>G c.(4378-4380)tcA>tcG p.S1460S F5_ENST00000367797.3_Silent_p.S1455S P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 1455 35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) CTGGAGGAGGTGATATCTGGC 0.473000 18 41 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82545411 82545411 + Missense_Mutation SNP C C A TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr7:82545411C>A ENST00000423517.2 - 7 12228 c.11891G>T c.(11890-11892)cGg>cTg p.R3964L PCLO_ENST00000437081.1_Missense_Mutation_p.R684L|PCLO_ENST00000333891.8_Missense_Mutation_p.R3964L NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 3895 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity p.R3964L(2) breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TGTAGTTTGCCGTGGCTTCTG 0.433000 134 270 6.4993e-71 8.3191e-71 1 1 0 RIMS2 9699 broad.mit.edu 37 8 104709402 104709402 + Missense_Mutation SNP G G T TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr8:104709402G>T ENST00000406091.3 + 2 265 c.265G>T c.(265-267)Gcg>Tcg p.A89S NM_001100117.2 NP_001093587.1 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 120 RabBD. intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) GAAGGGTGATGCGCCAACCTG 0.438000 HNSCC(12;0.0054) 16 80 8.60227e-14 1.05874e-13 1 1 0 TNFRSF25 8718 broad.mit.edu 37 1 6526162 6526162 + Silent SNP C C T TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr1:6526162C>T ENST00000377782.3 - 1 73 c.6G>A c.(4-6)gaG>gaA p.E2E PLEKHG5_ENST00000377748.1_3'UTR|TNFRSF25_ENST00000461703.2_5'UTR|PLEKHG5_ENST00000400913.1_3'UTR|PLEKHG5_ENST00000340850.5_3'UTR|TNFRSF25_ENST00000348333.3_Silent_p.E2E|TNFRSF25_ENST00000356876.3_Silent_p.E2E|TNFRSF25_ENST00000351748.3_Silent_p.E2E|TNFRSF25_ENST00000351959.5_Silent_p.E2E NM_148965.1 NP_683866.1 Q93038 TNR25_HUMAN tumor necrosis factor receptor superfamily, member 25 2 apoptosis|induction of apoptosis by extracellular signals cytosol|extracellular region|integral to plasma membrane tumor necrosis factor receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|lung(4)|prostate(1)|stomach(1) 10 Ovarian(185;0.0386)|all_lung(157;0.154) all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448) Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419) GCGGCCGCTGCTCCATAGCCC 0.746000 6 10 0 0 1 0 0 SDHAP1 255812 broad.mit.edu 37 3 195706702 195706702 + RNA SNP G G A TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr3:195706702G>A ENST00000427841.1 - 0 934 NR_003264.2 GTGCTGGTGTGGGCAGACGTG 0.597000 6 22 0 0 1 0 0 C12orf44 60673 broad.mit.edu 37 12 52470570 52470570 + Splice_Site SNP G G T TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr12:52470570G>T ENST00000336854.4 + 4 731 c.252_splice c.e4-1 p.D85_splice NM_001098673.1|NM_021934.4 NP_001092143.1|NP_068753.2 Q9BSB4 ATGA1_HUMAN chromosome 12 open reading frame 44 85 autophagic vacuole assembly pre-autophagosomal structure identical protein binding|protein complex binding endometrium(1)|lung(2)|ovary(1) 4 BRCA - Breast invasive adenocarcinoma(357;0.0978) TTCTTCCCAGGATGCACTGCG 0.567000 4 35 1.024e-07 1.17629e-07 1 1 0 TUBGCP3 10426 broad.mit.edu 37 13 113174235 113174235 + Missense_Mutation SNP C C T TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr13:113174235C>T ENST00000261965.3 - 15 2032 c.1846G>A c.(1846-1848)Gag>Aag p.E616K TUBGCP3_ENST00000375669.3_Missense_Mutation_p.E616K NM_006322.4 NP_006313.1 Q96CW5 GCP3_HUMAN tubulin, gamma complex associated protein 3 616 G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization centriole|cytosol|polar microtubule gamma-tubulin binding|structural constituent of cytoskeleton central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1) 25 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) CGCAGGATCTCAGGACTGTCA 0.592000 28 74 0 0 1 0 0 ARMC4 55130 broad.mit.edu 37 10 28250550 28250550 + Missense_Mutation SNP C C A TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr10:28250550C>A ENST00000305242.5 - 10 1425 c.1333G>T c.(1333-1335)Gca>Tca p.A445S ARMC4_ENST00000239715.3_Missense_Mutation_p.A302S|ARMC4_ENST00000537576.1_Missense_Mutation_p.A137S|ARMC4_ENST00000480504.1_5'UTR|ARMC4_ENST00000545014.1_5'UTR NM_018076.2 NP_060546.2 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 445 binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 GGCAAATCTGCACTTGCTTCC 0.388000 4 37 0.184627 0.186291 1 1 0 SDSL 113675 broad.mit.edu 37 12 113873329 113873329 + Silent SNP C C T TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr12:113873329C>T ENST00000403593.4 + 6 901 c.639C>T c.(637-639)gcC>gcT p.A213A SDSL_ENST00000345635.4_Silent_p.A213A Q96GA7 SDSL_HUMAN serine dehydratase-like 213 cellular amino acid metabolic process L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|pyridoxal phosphate binding endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2) 15 Pyridoxal Phosphate(DB00114) CCATCACAGCCGGCAAGCTGG 0.627000 22 94 0 0 1 0 0 TRPC4 7223 broad.mit.edu 37 13 38320186 38320186 + Missense_Mutation SNP G G A TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr13:38320186G>A ENST00000379705.3 - 3 1642 c.785C>T c.(784-786)tCc>tTc p.S262F TRPC4_ENST00000379681.3_Missense_Mutation_p.S262F|TRPC4_ENST00000379673.2_Missense_Mutation_p.S262F|TRPC4_ENST00000355779.2_Missense_Mutation_p.S262F|TRPC4_ENST00000338947.5_Intron|TRPC4_ENST00000379679.1_Intron|TRPC4_ENST00000426868.2_Missense_Mutation_p.S262F|TRPC4_ENST00000447043.1_Missense_Mutation_p.S262F|TRPC4_ENST00000358477.2_Missense_Mutation_p.S262F Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, subfamily C, member 4 262 Multimerization domain (By similarity). axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) CAGTTCTCTGGAACTTCTCGT 0.403000 22 106 0 0 1 0 0 NBEAL1 65065 broad.mit.edu 37 2 204078257 204078257 + Missense_Mutation SNP A A T TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr2:204078257A>T ENST00000449802.1 + 54 8197 c.7864A>T c.(7864-7866)Aac>Tac p.N2622Y NM_001114132.1 NP_001107604.1 Q6ZS30 NBEL1_HUMAN neurobeachin-like 1 2622 binding NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 TCTCAGCATCAACCCATTAGC 0.328000 30 37 0 0 1 0 0 HUWE1 10075 broad.mit.edu 37 X 53581597 53581597 + Missense_Mutation SNP T T C TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chrX:53581597T>C ENST00000342160.3 - 60 8948 c.8491A>G c.(8491-8493)Ata>Gta p.I2831V HUWE1_ENST00000262854.6_Missense_Mutation_p.I2831V Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 2831 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 TACTCACTTATAGTGGGAGCT 0.448000 4 6 0 0 1 0 0 TTC14 151613 broad.mit.edu 37 3 180320144 180320144 + Missense_Mutation SNP G G T TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr3:180320144G>T ENST00000412756.2 + 1 164 c.95G>T c.(94-96)cGt>cTt p.R32L TTC14_ENST00000296015.4_Missense_Mutation_p.R32L|TTC14_ENST00000382584.4_Missense_Mutation_p.R32L NM_001042601.2 NP_001036066.1 Q96N46 TTC14_HUMAN tetratricopeptide repeat domain 14 32 RNA binding endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1) 45 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) CCACACTTCCGTAGCCTCCTG 0.647000 3 24 0.115264 0.11736 1 1 0 IGKV1D-16 28901 broad.mit.edu 37 2 90139121 90139121 + RNA SNP T T C TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr2:90139121T>C ENST00000492446.1 + 0 44 ATGAGGGTCCTCGCTCAGCTC 0.537000 15 119 0 0 1 0 0 ANKMY1 51281 broad.mit.edu 37 2 241439473 241439473 + Missense_Mutation SNP C C A rs141314665 byFrequency TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr2:241439473C>A ENST00000391987.1 - 15 2807 c.2441G>T c.(2440-2442)cGg>cTg p.R814L ANKMY1_ENST00000272972.3_Missense_Mutation_p.R814L|ANKMY1_ENST00000373318.2_Missense_Mutation_p.R593L|ANKMY1_ENST00000373320.4_Missense_Mutation_p.R584L|ANKMY1_ENST00000361678.4_Missense_Mutation_p.R590L|ANKMY1_ENST00000406958.1_Missense_Mutation_p.R575L|ANKMY1_ENST00000403283.1_Missense_Mutation_p.R716L|ANKMY1_ENST00000401804.1_Missense_Mutation_p.R903L Q9P2S6 ANKY1_HUMAN ankyrin repeat and MYND domain containing 1 814 zinc ion binding central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 30 all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476) GAGCCGCTTCCGCGCCAGGAA 0.652000 7 17 1 1 1 1 0 POM121L12 285877 broad.mit.edu 37 7 53104138 53104138 + Missense_Mutation SNP G G T TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr7:53104138G>T ENST00000408890.4 + 1 790 c.774G>T c.(772-774)caG>caT p.Q258H NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 258 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 TGCTGGTCCAGCCCGCCCCAT 0.652000 29 77 5.60225e-13 6.82013e-13 1 1 0 CLNK 116449 broad.mit.edu 37 4 10533898 10533898 + Silent SNP G G A TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr4:10533898G>A ENST00000226951.6 - 12 851 c.612C>T c.(610-612)agC>agT p.S204S CLNK_ENST00000442825.2_Silent_p.S162S|CLNK_ENST00000507719.1_Silent_p.S162S NM_052964.2 NP_443196.2 Q7Z7G1 CLNK_HUMAN cytokine-dependent hematopoietic cell linker 204 immune response|intracellular signal transduction intracellular SH3/SH2 adaptor activity NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1) 17 AGTCCCTTAAGCTTATCTGAC 0.343000 5 10 0 0 1 0 0 ZNF280D 54816 broad.mit.edu 37 15 56974508 56974508 + Silent SNP C C T TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr15:56974508C>T ENST00000559237.1 - 9 1592 c.909G>A c.(907-909)aaG>aaA p.K303K ZNF280D_ENST00000559000.1_Silent_p.K303K|ZNF280D_ENST00000396245.1_Silent_p.K20K|ZNF280D_ENST00000267807.7_Silent_p.K316K NM_001002843.1 NP_001002843.1 Q6N043 Z280D_HUMAN zinc finger protein 280D 316 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1) 30 all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787) TTGTGTGAGTCTTCTGTTCCT 0.284000 3 30 0 0 1 0 0 ALX3 257 broad.mit.edu 37 1 110607340 110607340 + Missense_Mutation SNP G G T TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr1:110607340G>T ENST00000369792.4 - 2 550 c.463C>A c.(463-465)Cgt>Agt p.R155S NM_006492.2 NP_006483.2 O95076 ALX3_HUMAN ALX homeobox 3 155 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 6 all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135) GTGCGGTTACGACGCTTCTTG 0.597000 19 67 1.56452e-12 1.87408e-12 1 1 0 PPEF2 5470 broad.mit.edu 37 4 76805746 76805746 + Splice_Site SNP C C T TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr4:76805746C>T ENST00000286719.7 - 8 1103 c.e8+1 NM_006239.2 NP_006230.2 O14830 PPE2_HUMAN protein phosphatase, EF-hand calcium binding domain 2 detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception cytoplasm|photoreceptor inner segment|photoreceptor outer segment calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) TTGACTTGTACCGTAAGTTCA 0.353000 29 112 0 0 1 0 0 ASPH 444 broad.mit.edu 37 8 62438566 62438566 + Missense_Mutation SNP C C T TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr8:62438566C>T ENST00000541428.1 - 22 1943 c.1783G>A c.(1783-1785)Gac>Aac p.D595N ASPH_ENST00000379454.4_Missense_Mutation_p.D624N NM_001164750.1 NP_001158222.1 Q12797 ASPH_HUMAN aspartate beta-hydroxylase 624 muscle contraction integral to endoplasmic reticulum membrane calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 Lung SC(2;0.153) Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101) L-Aspartic Acid(DB00128)|Succinic acid(DB00139) TGGCTCCAGTCCCCTTTTTCC 0.493000 14 110 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152490306 152490306 + Missense_Mutation SNP C C A TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr2:152490306C>A ENST00000397345.3 - 65 9478 c.9276G>T c.(9274-9276)atG>atT p.M3092I NEB_ENST00000603639.1_Missense_Mutation_p.M3092I|NEB_ENST00000172853.10_Intron|NEB_ENST00000427231.2_Missense_Mutation_p.M3092I|NEB_ENST00000604864.1_Missense_Mutation_p.M3092I|NEB_ENST00000409198.1_Intron NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 3092 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) CCACCCCCAGCATGTCCACTG 0.532000 104 177 7.43007e-68 9.45646e-68 1 1 0 RP11-478B9.1 0 broad.mit.edu 37 12 45458436 45458436 + RNA SNP T T G TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr12:45458436T>G ENST00000548424.1 + 0 448 GTCTCAATAGTGGGCACAGCT 0.527000 5 22 0 0 1 0 0 KIF16B 55614 broad.mit.edu 37 20 16360435 16360435 + Missense_Mutation SNP C C T rs143610596 byFrequency TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr20:16360435C>T ENST00000354981.2 - 19 2369 c.2212G>A c.(2212-2214)Gat>Aat p.D738N KIF16B_ENST00000408042.1_Missense_Mutation_p.D738N|KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000355755.3_Missense_Mutation_p.D738N NM_001199865.1|NM_024704.4 NP_001186794.1|NP_078980.3 Q96L93 KI16B_HUMAN kinesin family member 16B 738 Glu-rich. cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling early endosome membrane|microtubule ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2) 74 TACTGTTCATCTTTTTCCTTT 0.468000 18 91 0 0 1 0 0 DAB1 1600 broad.mit.edu 37 1 57480884 57480884 + Silent SNP A A G TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr1:57480884A>G ENST00000371236.2 - 12 1379 c.1116T>C c.(1114-1116)gtT>gtC p.V372V DAB1_ENST00000439789.2_Silent_p.V286V|DAB1_ENST00000420954.2_Silent_p.V370V|DAB1_ENST00000371234.4_Silent_p.V372V|DAB1_ENST00000371231.1_Silent_p.V405V|DAB1_ENST00000414851.2_Silent_p.V354V|DAB1_ENST00000485760.1_5'UTR O75553 DAB1_HUMAN Dab, reelin signal transducer, homolog 1 (Drosophila) 405 cell differentiation|nervous system development central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5) 64 GCAAAGGCATAACAGTTTGTG 0.632000 31 85 0 0 1 0 0 MORC3 23515 broad.mit.edu 37 21 37713740 37713740 + Missense_Mutation SNP G G A TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr21:37713740G>A ENST00000400485.1 + 6 728 c.652G>A c.(652-654)Gat>Aat p.D218N MORC3_ENST00000487909.1_3'UTR NM_015358.2 NP_056173.1 Q14149 MORC3_HUMAN MORC family CW-type zinc finger 3 218 cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization aggresome|intermediate filament cytoskeleton|PML body ATP binding|zinc ion binding breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 35 GGATAAATATGATATCAGAAT 0.373000 6 33 0 0 1 0 0 AKAP1 8165 broad.mit.edu 37 17 55194253 55194253 + Missense_Mutation SNP C C A TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr17:55194253C>A ENST00000337714.3 + 8 2698 c.2465C>A c.(2464-2466)gCa>gAa p.A822E AKAP1_ENST00000539273.1_Missense_Mutation_p.A822E|AKAP1_ENST00000571629.1_Missense_Mutation_p.A822E|AKAP1_ENST00000572557.1_Missense_Mutation_p.A822E NM_003488.3 NP_003479.1 Q92667 AKAP1_HUMAN A kinase (PRKA) anchor protein 1 822 blood coagulation cytosol|integral to membrane|mitochondrial outer membrane protein binding|RNA binding endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1) 14 Breast(9;5.46e-08) TTTCAGGGAGCAGAAGTCCTT 0.512000 12 84 0.000151284 0.00016137 1 1 0 ARHGAP32 9743 broad.mit.edu 37 11 128839322 128839322 + Missense_Mutation SNP G G A TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr11:128839322G>A ENST00000310343.9 - 22 5743 c.5744C>T c.(5743-5745)tCt>tTt p.S1915F ARHGAP32_ENST00000527272.1_Missense_Mutation_p.S1566F|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.S1566F|ARHGAP32_ENST00000524655.1_3'UTR NM_001142685.1 NP_001136157.1 A7KAX9 RHG32_HUMAN Rho GTPase activating protein 32 1915 Interaction with FYN. cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3) 60 GACTGGCTCAGAAGTGTCTGG 0.493000 20 80 0 0 1 0 0 RASD2 23551 broad.mit.edu 37 22 35947786 35947786 + Nonsense_Mutation SNP G G T TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr22:35947786G>T ENST00000216127.4 + 3 1150 c.508G>T c.(508-510)Gag>Tag p.E170* NM_014310.3 NP_055125.2 Q96D21 RHES_HUMAN RASD family, member 2 170 locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling intracellular|plasma membrane G-protein beta-subunit binding|GTP binding|GTPase activity endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1) 13 CGCCTACTTCGAGGTGTCGGC 0.622000 8 19 0.000157383 0.00016708 1 1 0 CASP8 841 broad.mit.edu 37 2 202149973 202149973 + Nonsense_Mutation SNP C C T TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr2:202149973C>T ENST00000358485.4 + 8 1610 c.1414C>T c.(1414-1416)Cga>Tga p.R472* CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000264275.5_Nonsense_Mutation_p.R430*|CASP8_ENST00000264274.9_Nonsense_Mutation_p.R329*|CASP8_ENST00000432109.2_Nonsense_Mutation_p.R413*|CASP8_ENST00000323492.7_Nonsense_Mutation_p.R398*|CASP8_ENST00000392259.2_3'UTR NM_001080125.1 NP_001073594.1 Q14790 CASP8_HUMAN caspase 8, apoptosis-related cysteine peptidase 413 activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor centrosome|cytosol|mitochondrial outer membrane cysteine-type endopeptidase activity|protein binding breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3) 52 TGTTTCCTACCGAAACCCTGC 0.488000 HNSCC(4;0.00038) 26 27 0 0 1 0 0 CGNL1 84952 broad.mit.edu 37 15 57837890 57837890 + Nonsense_Mutation SNP A A T TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr15:57837890A>T ENST00000281282.5 + 17 3679 c.3601A>T c.(3601-3603)Aag>Tag p.K1201* NM_001252335.1|NM_032866.4 NP_001239264.1|NP_116255.2 Q0VF96 CGNL1_HUMAN cingulin-like 1 1201 myosin complex|tight junction motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1) 60 all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186) GACTGATCAGAAGGACCAGGT 0.582000 6 17 0 0 1 0 0 ZNF684 127396 broad.mit.edu 37 1 41012488 41012488 + Missense_Mutation SNP G G T TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr1:41012488G>T ENST00000372699.3 + 5 744 c.493G>T c.(493-495)Ggg>Tgg p.G165W ZNF684_ENST00000493756.1_3'UTR NM_152373.3 NP_689586.3 Q5T5D7 ZN684_HUMAN zinc finger protein 684 165 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|kidney(2)|lung(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 13 Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;5.42e-18) CAGTGAATGCGGGAAAGCCTT 0.318000 10 24 6.40141e-05 6.92713e-05 1 1 0 SLC5A5 6528 broad.mit.edu 37 19 17988632 17988632 + Missense_Mutation SNP C C A rs121909176 TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr19:17988632C>A ENST00000222248.3 + 6 1146 c.799C>A c.(799-801)Cag>Aag p.Q267K NM_000453.2 NP_000444.1 Q92911 SC5A5_HUMAN solute carrier family 5 (sodium/iodide cotransporter), member 5 267 Q -> E (in TDH1). cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process integral to membrane|nucleus|plasma membrane iodide transmembrane transporter activity|sodium:iodide symporter activity NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3) 31 GGCGCAGGTGCAGCGCTACGT 0.607000 26 89 1.12875e-08 1.3033e-08 1 1 0 COL8A1 1295 broad.mit.edu 37 3 99513727 99513727 + Missense_Mutation SNP G G A TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr3:99513727G>A ENST00000261037.3 + 5 1362 c.982G>A c.(982-984)Gga>Aga p.G328R COL8A1_ENST00000273342.4_Missense_Mutation_p.G328R NM_001850.4 NP_001841.2 P27658 CO8A1_HUMAN collagen, type VIII, alpha 1 328 Triple-helical region (COL1). angiogenesis|cell adhesion basement membrane|collagen type VIII breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1) 27 AGGCCAGCCAGGATTTCCAGG 0.622000 9 46 0 0 1 0 0 SPATA9 83890 broad.mit.edu 37 5 94994441 94994441 + Silent SNP C C T TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr5:94994441C>T ENST00000274432.8 - 5 792 c.651G>A c.(649-651)ccG>ccA p.P217P SPATA9_ENST00000477047.2_Intron|RFESD_ENST00000508206.1_Intron NM_031952.3 NP_114158.2 Q9BWV2 SPAT9_HUMAN spermatogenesis associated 9 217 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane large_intestine(3)|lung(4) 7 all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198) all cancers(79;8.91e-16) CTGGCTTCTCCGGCAATGACC 0.403000 7 27 0 0 1 0 0 PQLC1 80148 broad.mit.edu 37 18 77664035 77664035 + Missense_Mutation SNP G G A rs148418095 byFrequency TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr18:77664035G>A ENST00000397778.2 - 6 939 c.757C>T c.(757-759)Cgc>Tgc p.R253C PQLC1_ENST00000590381.1_3'UTR|PQLC1_ENST00000409073.1_Missense_Mutation_p.R170C|PQLC1_ENST00000357575.4_Missense_Mutation_p.R235C|PQLC1_ENST00000590895.1_5'UTR NM_025078.4 NP_079354.2 Q8N2U9 PQLC1_HUMAN PQ loop repeat containing 1 253 integral to membrane endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1) 9 Esophageal squamous(42;0.0212)|Melanoma(33;0.2) OV - Ovarian serous cystadenocarcinoma(15;8.2e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0258) TGGGGGTGGCGGGCGAAGGCG 0.706000 6 23 0 0 1 0 0 PCDHGA10 56106 broad.mit.edu 37 5 140793473 140793473 + Missense_Mutation SNP C C T TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr5:140793473C>T ENST00000398610.2 + 1 731 c.731C>T c.(730-732)cCg>cTg p.P244L PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018913.2|NM_032090.1 NP_061736.1|NP_114479.1 breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GACAACGCGCCGGTCTTCACC 0.582000 12 40 0 0 1 0 0 POLR1A 25885 broad.mit.edu 37 2 86258661 86258661 + Missense_Mutation SNP C C T TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr2:86258661C>T ENST00000263857.6 - 30 4748 c.4370G>A c.(4369-4371)cGa>cAa p.R1457Q POLR1A_ENST00000409681.1_Missense_Mutation_p.R1457Q O95602 RPA1_HUMAN polymerase (RNA) I polypeptide A, 194kDa 1457 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 63 TTGGGTCTTTCGAGCACCTTC 0.592000 22 78 0 0 1 0 0 CPT1B 1375 broad.mit.edu 37 22 51011377 51011377 + Missense_Mutation SNP A A G TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr22:51011377A>G ENST00000360719.2 - 11 1416 c.1279T>C c.(1279-1281)Tcc>Ccc p.S427P CPT1B_ENST00000440709.1_Intron|CPT1B_ENST00000405237.3_Missense_Mutation_p.S427P|CPT1B_ENST00000312108.7_Missense_Mutation_p.S427P|CPT1B_ENST00000457250.1_Missense_Mutation_p.S393P|CPT1B_ENST00000395650.2_Missense_Mutation_p.S427P|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000434492.2_Missense_Mutation_p.S224P NM_001145135.1|NM_152245.2 NP_001138607.1|NP_689451.1 Q92523 CPT1B_HUMAN carnitine palmitoyltransferase 1B (muscle) 427 S -> C (in dbSNP:rs8142477). carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207) GGGTCATAGGAGTAGGATTCC 0.587000 27 127 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196726634 196726634 + Silent SNP G G T TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr2:196726634G>T ENST00000312428.6 - 42 7643 c.7543C>A c.(7543-7545)Cga>Aga p.R2515R NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2515 AAA 4 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 TCCAAGAATCGTGAGGCAACT 0.378000 16 24 1.33834e-09 1.56139e-09 1 1 0 PIK3CG 5294 broad.mit.edu 37 7 106508689 106508689 + Missense_Mutation SNP C C T TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr7:106508689C>T ENST00000359195.3 + 2 993 c.683C>T c.(682-684)aCc>aTc p.T228I PIK3CG_ENST00000496166.1_Missense_Mutation_p.T228I|PIK3CG_ENST00000440650.2_Missense_Mutation_p.T228I NM_002649.2 NP_002640.2 P48736 PK3CG_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma 228 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 132 CACCGCAGCACCACCAGCCAG 0.557000 53 81 0 0 1 0 0 HAS3 3038 broad.mit.edu 37 16 69143484 69143484 + Missense_Mutation SNP T T A TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr16:69143484T>A ENST00000306560.1 + 2 342 c.186T>A c.(184-186)ttT>ttA p.F62L HAS3_ENST00000569188.1_Missense_Mutation_p.F62L|HAS3_ENST00000219322.3_Missense_Mutation_p.F62L NM_005329.2 NP_005320.2 O00219 HAS3_HUMAN hyaluronan synthase 3 62 carbohydrate metabolic process integral to plasma membrane hyaluronan synthase activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2) 16 Ovarian(137;0.101) OV - Ovarian serous cystadenocarcinoma(108;0.0694) AGAGCCTTTTTGCCTTCCTGG 0.647000 10 52 0 0 1 0 0 UNC5D 137970 broad.mit.edu 37 8 35608173 35608173 + Missense_Mutation SNP T T A TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr8:35608173T>A ENST00000287272.2 + 12 1822 c.1802T>A c.(1801-1803)cTg>cAg p.L601Q UNC5D_ENST00000404895.2_Missense_Mutation_p.L670Q|UNC5D_ENST00000420357.1_Missense_Mutation_p.L603Q|UNC5D_ENST00000453357.2_Missense_Mutation_p.L665Q|UNC5D_ENST00000449677.1_Missense_Mutation_p.L246Q|UNC5D_ENST00000416672.1_Missense_Mutation_p.L675Q Q6UXZ4 UNC5D_HUMAN unc-5 homolog D (C. elegans) 670 ZU5. apoptosis|axon guidance integral to membrane receptor activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2) 112 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) CATGTGCTCCTGGACAGCTTT 0.498000 40 98 0 0 1 0 0 C2orf71 388939 broad.mit.edu 37 2 29296997 29296997 + Missense_Mutation SNP A A T TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr2:29296997A>T ENST00000331664.5 - 1 130 c.131T>A c.(130-132)cTg>cAg p.L44Q NM_001029883.2 NP_001025054.1 A6NGG8 CB071_HUMAN chromosome 2 open reading frame 71 44 response to stimulus|visual perception photoreceptor outer segment NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1) 60 GTTTTTAACCAGCAAAGGGAT 0.522000 11 40 0 0 1 0 0 SI 6476 broad.mit.edu 37 3 164714334 164714334 + Missense_Mutation SNP C C T TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr3:164714334C>T ENST00000264382.3 - 40 4743 c.4681G>A c.(4681-4683)Gca>Aca p.A1561T NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 1561 Sucrase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) CTAGTATTTGCAATGTTGTGA 0.363000 HNSCC(35;0.089) 9 25 0 0 1 0 0 SETD5 55209 broad.mit.edu 37 3 9512475 9512475 + Nonsense_Mutation SNP T T A TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr3:9512475T>A ENST00000402466.1 + 20 3531 c.2763T>A c.(2761-2763)tgT>tgA p.C921* SETD5_ENST00000406341.1_Nonsense_Mutation_p.C1019*|SETD5_ENST00000302463.6_Nonsense_Mutation_p.C921*|SETD5_ENST00000402198.1_Nonsense_Mutation_p.C1019*|SETD5_ENST00000407969.1_Nonsense_Mutation_p.C1038* Q9C0A6 SETD5_HUMAN SET domain containing 5 1019 NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.112) GGGGATATTGTTCCCCTGCAG 0.498000 5 20 0 0 1 0 0 ZFYVE27 118813 broad.mit.edu 37 10 99512621 99512621 + Missense_Mutation SNP A A T TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr10:99512621A>T ENST00000393677.4 + 9 1088 c.884A>T c.(883-885)cAc>cTc p.H295L ZFYVE27_ENST00000357540.4_Intron|ZFYVE27_ENST00000356257.4_Missense_Mutation_p.H300L|ZFYVE27_ENST00000337540.7_Intron|ZFYVE27_ENST00000370613.3_Intron|ZFYVE27_ENST00000370610.3_Intron|ZFYVE27_ENST00000359980.3_Intron|ZFYVE27_ENST00000453958.2_Intron NM_144588.6 NP_653189.3 Q5T4F4 ZFY27_HUMAN zinc finger, FYVE domain containing 27 295 cell death|nerve growth factor receptor signaling pathway|neuron projection development|protein localization in plasma membrane axon|dendrite|endoplasmic reticulum membrane|growth cone membrane|integral to membrane|recycling endosome membrane metal ion binding|protein binding endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1) 8 Colorectal(252;0.0846) Epithelial(162;7.08e-10)|all cancers(201;5.18e-08) CAGGAGACCCACTTGGTGGTG 0.617000 7 45 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126239890 126239890 + Missense_Mutation SNP A A T TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr4:126239890A>T ENST00000394329.3 + 1 2337 c.2324A>T c.(2323-2325)aAc>aTc p.N775I NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 775 Cadherin 7. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 CAATCTCCCAACCAGGCAATA 0.438000 14 54 0 0 1 0 0 SCAND3 114821 broad.mit.edu 37 6 28539706 28539706 + Missense_Mutation SNP T T A TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr6:28539706T>A ENST00000452236.2 - 4 4577 c.3960A>T c.(3958-3960)caA>caT p.Q1320H NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 1320 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 ataagtgagcttgcttcttgc 0.308000 11 20 0 0 1 0 0 EEF2 1938 broad.mit.edu 37 19 3979344 3979344 + Missense_Mutation SNP C C T TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr19:3979344C>T ENST00000309311.6 - 11 1784 c.1696G>A c.(1696-1698)Gcc>Acc p.A566T NM_001961.3 NP_001952.1 P13639 EF2_HUMAN eukaryotic translation elongation factor 2 566 cytosol|ribonucleoprotein complex GTP binding|GTPase activity|protein binding|translation elongation factor activity endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18) GGGATGCAGGCGTGGTCCTCC 0.632000 24 116 0 0 1 0 0 KDM7A 80853 broad.mit.edu 37 7 139796841 139796841 + Missense_Mutation SNP T T C TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr7:139796841T>C ENST00000397560.2 - 16 2120 c.2023A>G c.(2023-2025)Atc>Gtc p.I675V JHDM1D_ENST00000006967.5_Missense_Mutation_p.I675V NM_030647.1 NP_085150.1 Q6ZMT4 KDM7_HUMAN 675 midbrain development|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1) 22 Melanoma(164;0.0142) GTGGTAAAGATACTTTTCTGA 0.328000 8 10 0 0 1 0 0 MAGI1 9223 broad.mit.edu 37 3 65438991 65438991 + Missense_Mutation SNP C C A TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr3:65438991C>A ENST00000330909.8 - 6 983 c.984G>T c.(982-984)tgG>tgT p.W328C MAGI1_ENST00000402939.2_Missense_Mutation_p.W328C|MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000483466.1_Missense_Mutation_p.W328C|MAGI1_ENST00000497477.2_Missense_Mutation_p.W328C NM_015520.1 NP_056335.1 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 1 328 WW 1. cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) GAGGGTCTAACCAAGATGTTG 0.423000 12 59 6.40141e-05 6.92713e-05 1 1 0 HCN1 348980 broad.mit.edu 37 5 45262714 45262714 + Missense_Mutation SNP C C G rs143224211 TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr5:45262714C>G ENST00000303230.4 - 8 2039 c.1982G>C c.(1981-1983)aGg>aCg p.R661T NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 661 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 AGATTGTGTCCTCATGCGGGA 0.572000 13 43 0 0 1 0 0 MERTK 10461 broad.mit.edu 37 2 112786351 112786351 + Silent SNP C C T TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr2:112786351C>T ENST00000295408.4 + 19 3167 c.2910C>T c.(2908-2910)tcC>tcT p.S970S MERTK_ENST00000409780.1_Silent_p.S794S|MERTK_ENST00000421804.2_Silent_p.S970S Q12866 MERTK_HUMAN c-mer proto-oncogene tyrosine kinase 970 cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10) 46 TCTCCTGGTCCCATTCGAGCA 0.527000 19 26 0 0 1 0 0 CTTNBP2NL 55917 broad.mit.edu 37 1 112999853 112999853 + Missense_Mutation SNP C C T TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr1:112999853C>T ENST00000271277.6 + 6 1964 c.1739C>T c.(1738-1740)cCa>cTa p.P580L CTTNBP2NL_ENST00000607039.1_3'UTR|RP4-671G15.3_ENST00000508462.1_RNA NM_018704.2 NP_061174.1 Q9P2B4 CT2NL_HUMAN CTTNBP2 N-terminal like 580 actin cytoskeleton protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 29 all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GGAAACCCTCCACCCATCCCA 0.562000 19 61 0 0 1 0 0 TRIM43 129868 broad.mit.edu 37 2 96260870 96260870 + Missense_Mutation SNP G G A TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr2:96260870G>A ENST00000272395.2 + 3 620 c.484G>A c.(484-486)Gga>Aga p.G162R NM_001164464.1|NM_138800.1 NP_001157936.1|NP_620155.1 Q96BQ3 TRI43_HUMAN tripartite motif containing 43 162 intracellular zinc ion binding p.G162R(2) breast(1)|large_intestine(3)|lung(7)|ovary(1) 12 ATATGAGGAGGGAAGAACAGC 0.398000 3 20 0 0 1 0 0 MRO 83876 broad.mit.edu 37 18 48327856 48327856 + Missense_Mutation SNP A A G TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr18:48327856A>G ENST00000428869.2 - 7 706 c.448T>C c.(448-450)Tac>Cac p.Y150H MRO_ENST00000588444.1_Intron|MRO_ENST00000256425.2_Missense_Mutation_p.Y150H|MRO_ENST00000398439.3_Missense_Mutation_p.Y150H|MRO_ENST00000431965.2_Intron|MRO_ENST00000587291.1_5'UTR|MRO_ENST00000436348.2_Missense_Mutation_p.Y164H Q9BYG7 MSTRO_HUMAN maestro 150 nucleolus binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2) 10 Colorectal(6;0.0596) Colorectal(21;0.082) AAGGCCGAGTATCTCAGACTG 0.468000 41 165 0 0 1 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803543 142803543 + RNA SNP C C T TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr1:142803543C>T ENST00000423385.1 - 0 1422 TGTTGGAATTCCTGATGAATC 0.269000 4 115 0 0 1 0 0 TSHZ3 57616 broad.mit.edu 37 19 31768178 31768178 + Nonsense_Mutation SNP C C A TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr19:31768178C>A ENST00000240587.4 - 2 2848 c.2521G>T c.(2521-2523)Gag>Tag p.E841* NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 841 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) AAGGCATTCTCGCGTAGCGGC 0.522000 24 72 9.39395e-14 1.14986e-13 1 1 0 DPPA2 151871 broad.mit.edu 37 3 109023515 109023515 + Missense_Mutation SNP C C T TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr3:109023515C>T ENST00000478945.1 - 7 907 c.661G>A c.(661-663)Gtc>Atc p.V221I NM_138815.3 NP_620170.3 Q7Z7J5 DPPA2_HUMAN developmental pluripotency associated 2 221 nucleus nucleic acid binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 CACCACCTGACGCCTGGAAAG 0.498000 14 50 0 0 1 0 0 IKZF5 64376 broad.mit.edu 37 10 124754116 124754116 + Missense_Mutation SNP C C T TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr10:124754116C>T ENST00000368886.5 - 5 760 c.440G>A c.(439-441)tGc>tAc p.C147Y PSTK_ENST00000497219.1_Intron NM_001271840.1 NP_001258769.1 Q9H5V7 IKZF5_HUMAN IKAROS family zinc finger 5 (Pegasus) 147 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|lung(3)|prostate(1) 6 all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222) Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754) TCGATCACTGCAGCGGAAGGA 0.433000 6 50 0 0 1 0 0 DPP4 1803 broad.mit.edu 37 2 162865771 162865771 + Nonsense_Mutation SNP G G A TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr2:162865771G>A ENST00000360534.3 - 21 2427 c.1867C>T c.(1867-1869)Cga>Tga p.R623* DPP4_ENST00000491591.1_5'UTR NM_001935.3 NP_001926.2 P27487 DPP4_HUMAN dipeptidyl-peptidase 4 623 cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 48 Sitagliptin(DB01261) ATTGCAATTCGTTTGTTGTCC 0.368000 24 24 0 0 1 0 0 PLCL1 5334 broad.mit.edu 37 2 198949847 198949847 + Missense_Mutation SNP A A T TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr2:198949847A>T ENST00000428675.1 + 2 2004 c.1606A>T c.(1606-1608)Atg>Ttg p.M536L PLCL1_ENST00000437704.2_Missense_Mutation_p.M438L NM_006226.3 NP_006217.3 Q15111 PLCL1_HUMAN phospholipase C-like 1 536 PI-PLC X-box. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Quinacrine(DB01103) ATTAAAAAGAATGATCATTGT 0.393000 22 28 0 0 1 0 0 ADAMTS19 171019 broad.mit.edu 37 5 129030413 129030413 + Splice_Site SNP G G A TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr5:129030413G>A ENST00000274487.4 + 19 2946 c.2800_splice c.e19-1 p.G934_splice CTC-575N7.1_ENST00000503616.1_RNA|ADAMTS19_ENST00000509467.1_3'UTR NM_133638.3 NP_598377.3 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 19 934 TSP type-1 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6) 91 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) TTCTTTTCAGGAGAAAGGAAG 0.313000 6 38 0 0 1 0 0 CTDSPL2 51496 broad.mit.edu 37 15 44789262 44789262 + Missense_Mutation SNP G G A TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr15:44789262G>A ENST00000260327.4 + 7 1371 c.808G>A c.(808-810)Gaa>Aaa p.E270K CTDSPL2_ENST00000558373.1_Missense_Mutation_p.E198K|CTDSPL2_ENST00000561189.1_3'UTR|CTDSPL2_ENST00000396780.1_Missense_Mutation_p.E198K|CTDSPL2_ENST00000558966.1_Missense_Mutation_p.E270K NM_016396.2 NP_057480.2 Q05D32 CTSL2_HUMAN CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2 270 phosphoprotein phosphatase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2) 13 all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122) all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905) ACTGACAGAAGAACAACTAAA 0.323000 15 58 0 0 1 0 0 HDGFL1 154150 broad.mit.edu 37 6 22569841 22569841 + Missense_Mutation SNP G G A TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr6:22569841G>A ENST00000510882.2 + 1 47 c.37G>A c.(37-39)Gac>Aac p.D13N HDGFL1_ENST00000230012.3_Missense_Mutation_p.D13N Q5TGJ6 HDGL1_HUMAN hepatoma derived growth factor-like 1 13 PWWP. kidney(1)|large_intestine(3)|lung(7) 11 Ovarian(93;0.163) CAAGAGCGGGGACCTGGTGTT 0.622000 9 49 0 0 1 0 0 ECM1 1893 broad.mit.edu 37 1 150482213 150482213 + Silent SNP C C T TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr1:150482213C>T ENST00000369047.4 + 3 323 c.198C>T c.(196-198)ggC>ggT p.G66G ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000369049.4_Silent_p.G66G|ECM1_ENST00000346569.6_Silent_p.G66G NM_004425.3 NP_004416.2 Q16610 ECM1_HUMAN extracellular matrix protein 1 66 angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade proteinaceous extracellular matrix laminin binding|protease binding|protein C-terminus binding|signal transducer activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1) 22 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) CTCAGCATGGCCCTCCCTTTG 0.572000 27 117 0 0 1 0 0 EBF3 253738 broad.mit.edu 37 10 131666136 131666136 + Missense_Mutation SNP C C A TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr10:131666136C>A ENST00000368648.3 - 9 867 c.795G>T c.(793-795)tgG>tgT p.W265C EBF3_ENST00000355311.5_Missense_Mutation_p.W274C NM_001005463.2 NP_001005463.1 Q9H4W6 COE3_HUMAN early B-cell factor 3 274 IPT/TIG. multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding|protein binding p.W265C(1) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 44 all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764) OV - Ovarian serous cystadenocarcinoma(35;0.00513) CCCCCGTGGTCCAGCCTTCAC 0.587000 18 56 1.15919e-05 1.27283e-05 1 1 0 HNRNPUL1 11100 broad.mit.edu 37 19 41812381 41812381 + Nonsense_Mutation SNP C C T TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr19:41812381C>T ENST00000392006.3 + 15 2655 c.2482C>T c.(2482-2484)Cag>Tag p.Q828* HNRNPUL1_ENST00000352456.3_Nonsense_Mutation_p.Q738*|HNRNPUL1_ENST00000378215.4_Nonsense_Mutation_p.Q724*|HNRNPUL1_ENST00000263367.3_Nonsense_Mutation_p.Q739*|HNRNPUL1_ENST00000602130.1_Nonsense_Mutation_p.Q776*|HNRNPUL1_ENST00000593587.1_Nonsense_Mutation_p.Q728*|HNRNPUL1_ENST00000595018.1_Nonsense_Mutation_p.Q728* NM_007040.3 NP_008971.2 Q9BUJ2 HNRL1_HUMAN heterogeneous nuclear ribonucleoprotein U-like 1 828 Gln-rich.|Necessary for interaction with TP53.|Tyr-rich. nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent heterogeneous nuclear ribonucleoprotein complex|nucleoplasm enzyme binding|RNA binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 29 CCAGTACTATCAGAACCAGGG 0.567000 32 85 0 0 1 0 0 SLC12A3 6559 broad.mit.edu 37 16 56904621 56904621 + Silent SNP C C T rs140167332 TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr16:56904621C>T ENST00000438926.2 + 6 854 c.825C>T c.(823-825)tcC>tcT p.S275S SLC12A3_ENST00000566786.1_Silent_p.S274S|SLC12A3_ENST00000563236.1_Silent_p.S275S|SLC12A3_ENST00000262502.5_Silent_p.S274S NM_000339.2|NM_001126107.1|NM_001126108.1 NP_000330.2|NP_001119579.1|NP_001119580.1 P55017 S12A3_HUMAN solute carrier family 12 (sodium/chloride transporter), member 3 275 sodium ion transmembrane transport apical plasma membrane|integral to plasma membrane|membrane fraction sodium:chloride symporter activity breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325) TGGCCATCTCCCTGGCTGGCA 0.632000 5 35 0 0 1 0 0 LOC100294341 100294341 broad.mit.edu 37 17 43587657 43587657 + RNA SNP C C T rs148404065 by1000genomes TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr17:43587657C>T ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA GGTGACAACACATCTGTTTTA 0.323000 4 135 0 0 1 0 0 PDZD11 51248 broad.mit.edu 37 X 69507127 69507127 + Splice_Site SNP G G A TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chrX:69507127G>A ENST00000239666.4 - 6 519 c.388_splice c.e6+1 p.Y129_splice PDZD11_ENST00000374454.1_Splice_Site_p.Y129_splice NM_016484.4 NP_057568.1 Q5EBL8 PDZ11_HUMAN PDZ domain containing 11 129 PDZ. basolateral plasma membrane|cytosol|extracellular region protein C-terminus binding breast(1)|endometrium(2)|large_intestine(3)|lung(3) 9 GGCACTTACTGTAGGGAAAGA 0.448000 7 14 0 0 1 0 0 ITCH 83737 broad.mit.edu 37 20 33077107 33077107 + Silent SNP A A G TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr20:33077107A>G ENST00000374864.4 + 21 2343 c.2130A>G c.(2128-2130)gaA>gaG p.E710E ITCH_ENST00000535650.1_Silent_p.E600E|ITCH_ENST00000262650.6_Silent_p.E751E NM_001257137.1|NM_001257138.1|NM_031483.5 NP_001244066.1|NP_001244067.1|NP_113671.3 Q96J02 ITCH_HUMAN itchy E3 ubiquitin protein ligase 751 HECT. apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus cytosol|nucleus|plasma membrane CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1) 36 GAGGTGTTGAAGAACAGACAC 0.348000 12 41 0 0 1 0 0 KIAA0408 9729 broad.mit.edu 37 6 127768624 127768624 + Silent SNP C C T rs138966810 TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr6:127768624C>T ENST00000483725.3 - 5 1176 c.840G>A c.(838-840)tcG>tcA p.S280S SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR NM_014702.4 NP_055517.3 Q6ZU52 K0408_HUMAN KIAA0408 280 protein binding endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1) 28 GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13) GTTCAGAATCCGAGCTGGGAA 0.428000 22 89 0 0 1 0 0 ZNF385D 79750 broad.mit.edu 37 3 21478515 21478515 + Nonsense_Mutation SNP G G T TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr3:21478515G>T ENST00000281523.2 - 5 1138 c.620C>A c.(619-621)tCg>tAg p.S207* ZNF385D_ENST00000494118.1_5'UTR NM_024697.2 NP_078973.1 Q9H6B1 Z385D_HUMAN zinc finger protein 385D 207 nucleus nucleic acid binding|zinc ion binding p.S207L(1) NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4) 46 CTTGCATAGCGAACAGTAAAG 0.478000 19 81 3.62473e-10 4.27337e-10 1 1 0 SH2D1A 4068 broad.mit.edu 37 X 123499672 123499672 + Missense_Mutation SNP G G A TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chrX:123499672G>A ENST00000371139.4 + 2 498 c.199G>A c.(199-201)Gag>Aag p.E67K SH2D1A_ENST00000470647.1_3'UTR|SH2D1A_ENST00000360027.4_Missense_Mutation_p.E67K|STAG2_ENST00000469481.1_Intron NM_001114937.2|NM_002351.4 NP_001108409.1|NP_002342.1 O60880 SH21A_HUMAN SH2 domain containing 1A 67 SH2. cell-cell signaling|cellular defense response cytoplasm SH3/SH2 adaptor activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 TTGGAGTGCTGAGGTATAGTT 0.348000 24 37 0 0 1 0 0 ANKRD17 26057 broad.mit.edu 37 4 73986653 73986653 + Missense_Mutation SNP G G A TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr4:73986653G>A ENST00000358602.4 - 20 3910 c.3794C>T c.(3793-3795)aCt>aTt p.T1265I ANKRD17_ENST00000330838.6_Missense_Mutation_p.T1014I|ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000509867.2_Missense_Mutation_p.T1152I NM_032217.3 NP_115593.3 O75179 ANR17_HUMAN ankyrin repeat domain 17 1265 interspecies interaction between organisms cytoplasm|nucleus RNA binding NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3) 96 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) AACCACTTCAGTTCTTCCTTG 0.398000 18 73 0 0 1 0 0 PPM1D 8493 broad.mit.edu 37 17 58740836 58740836 + Nonsense_Mutation SNP C C T TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr17:58740836C>T ENST00000305921.3 + 6 1973 c.1741C>T c.(1741-1743)Cga>Tga p.R581* NM_003620.3 NP_003611.1 O15297 PPM1D_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1D 581 negative regulation of cell proliferation|protein dephosphorylation|response to radiation nucleus|protein serine/threonine phosphatase complex metal ion binding|protein binding|protein serine/threonine phosphatase activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 15 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;6.75e-12)|all cancers(12;1.96e-10) ACTCACCATGCGACGCAGACT 0.448000 OREG0031485 type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS) 10 59 0 0 1 0 0 DIAPH1 1729 broad.mit.edu 37 5 140905924 140905924 + Silent SNP G G A TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr5:140905924G>A ENST00000253811.6 - 25 3521 c.3381C>T c.(3379-3381)ccC>ccT p.P1127P DIAPH1_ENST00000520569.1_Silent_p.P1069P|DIAPH1_ENST00000389057.5_Silent_p.P1117P|DIAPH1_ENST00000518047.1_Silent_p.P1114P|DIAPH1_ENST00000389054.3_Silent_p.P1123P|DIAPH1_ENST00000398557.4_Silent_p.P1126P|DIAPH1_ENST00000398562.2_Silent_p.P1102P|DIAPH1_ENST00000398566.3_Silent_p.P1118P O60610 DIAP1_HUMAN diaphanous-related formin 1 1126 FH2. regulation of microtubule-based process|sensory perception of sound cytoplasm|cytoskeleton|ruffle membrane actin binding|receptor binding|Rho GTPase binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2) 23 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACAACTTCTTGGGGTCAAAGA 0.428000 16 43 0 0 1 0 0 JARID2 3720 broad.mit.edu 37 6 15501415 15501415 + Silent SNP A A T TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr6:15501415A>T ENST00000341776.2 + 8 2467 c.2223A>T c.(2221-2223)acA>acT p.T741T JARID2_ENST00000541660.1_Silent_p.T703T|JARID2_ENST00000397311.3_Silent_p.T569T NM_004973.3 NP_004964.2 Q92833 JARD2_HUMAN jumonji, AT rich interactive domain 2 741 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) AAGGCCACACAGAGAACGACC 0.642000 51 162 0 0 1 0 0 TJP1 7082 broad.mit.edu 37 15 30025364 30025364 + Nonsense_Mutation SNP C C T TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr15:30025364C>T ENST00000346128.6 - 13 2144 c.1670G>A c.(1669-1671)tGg>tAg p.W557* TJP1_ENST00000400011.2_Nonsense_Mutation_p.W561*|TJP1_ENST00000545208.2_Nonsense_Mutation_p.W557*|TJP1_ENST00000356107.6_Nonsense_Mutation_p.W557* NM_003257.3|NM_175610.2 NP_003248.3|NP_783297.2 Q07157 ZO1_HUMAN tight junction protein 1 557 SH3. cell-cell junction assembly|cellular component disassembly involved in apoptosis basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1) 68 all_lung(180;7.48e-11)|Breast(32;0.000153) all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186) AATAGCAAGCCAAGAGCCCAG 0.388000 10 54 0 0 1 0 0 DNASE2B 58511 broad.mit.edu 37 1 84876670 84876670 + Missense_Mutation SNP T T C TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr1:84876670T>C ENST00000370665.3 + 4 568 c.535T>C c.(535-537)Tat>Cat p.Y179H DNASE2B_ENST00000370662.3_5'UTR NM_021233.2 NP_067056.2 Q8WZ79 DNS2B_HUMAN deoxyribonuclease II beta 179 DNA metabolic process lysosome deoxyribonuclease II activity endometrium(1)|lung(4)|skin(1) 6 all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808) GTACAACCAGTATGAGGCAAT 0.368000 6 13 0 0 1 0 0 ZNF681 148213 broad.mit.edu 37 19 23927979 23927979 + Nonsense_Mutation SNP C C A TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr19:23927979C>A ENST00000402377.3 - 4 514 c.373G>T c.(373-375)Gga>Tga p.G125* ZNF681_ENST00000395385.3_Nonsense_Mutation_p.G56* NM_138286.2 NP_612143.2 Q96N22 ZN681_HUMAN zinc finger protein 681 125 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3) 21 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) TTATAACCTCCTTTTTGCACT 0.294000 3 22 0.115264 0.11736 1 1 0 OR9G4 283189 broad.mit.edu 37 11 56510610 56510610 + Missense_Mutation SNP A A C TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr11:56510610A>C ENST00000302957.3 - 1 677 c.678T>G c.(676-678)atT>atG p.I226M NM_001005284.1 NP_001005284.1 Q8NGQ1 OR9G4_HUMAN olfactory receptor, family 9, subfamily G, member 4 226 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 34 GGATAGCAAGAATGCTGGAGA 0.488000 12 42 0 0 1 0 0 FAT1 2195 broad.mit.edu 37 4 187554873 187554873 + Nonsense_Mutation SNP C C A TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr4:187554873C>A ENST00000441802.2 - 7 4497 c.4288G>T c.(4288-4290)Gag>Tag p.E1430* NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 1430 Cadherin 12. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 TCTGTAGCCTCGACTGTGAGG 0.463000 HNSCC(5;0.00058) 26 68 1.33986e-20 1.69565e-20 1 1 0 THNSL2 55258 broad.mit.edu 37 2 88482302 88482302 + Missense_Mutation SNP A A G TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr2:88482302A>G ENST00000324166.5 + 5 2578 c.887A>G c.(886-888)cAg>cGg p.Q296R THNSL2_ENST00000402102.1_Missense_Mutation_p.Q296R|THNSL2_ENST00000496844.1_3'UTR|THNSL2_ENST00000377254.3_Missense_Mutation_p.Q296R|THNSL2_ENST00000358591.2_Missense_Mutation_p.Q296R|THNSL2_ENST00000449349.1_Intron|THNSL2_ENST00000343544.4_Missense_Mutation_p.Q296R NM_018271.4 NP_060741.3 Q86YJ6 THNS2_HUMAN threonine synthase-like 2 (S. cerevisiae) 296 threonine biosynthetic process threonine synthase activity breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2) 27 AGGACTGTCCAGCAGGGAGAC 0.537000 4 74 0 0 1 0 0 EPHA5 2044 broad.mit.edu 37 4 66467959 66467959 + Missense_Mutation SNP C C A TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr4:66467959C>A ENST00000273854.3 - 3 910 c.310G>T c.(310-312)Gtg>Ttg p.V104L EPHA5_ENST00000432638.2_Missense_Mutation_p.V104L|EPHA5_ENST00000354839.4_Missense_Mutation_p.V104L|EPHA5_ENST00000511294.1_Missense_Mutation_p.V104L NM_004439.5 NP_004430.4 P54756 EPHA5_HUMAN EPH receptor A5 104 cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 142 TGTTCCATCACTTTGCATACT 0.378000 TSP Lung(17;0.13) 26 71 8.16721e-17 1.02778e-16 1 1 0 GOLGA8EP 390535 broad.mit.edu 37 15 23445456 23445456 + RNA SNP G G T TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr15:23445456G>T ENST00000526079.1 + 0 2276 NR_027407.1|NR_033350.1 CAAGAAGAAGGAGATAAACAT 0.458000 18 109 3.5997e-14 4.45488e-14 1 1 0 NSUN2 54888 broad.mit.edu 37 5 6620375 6620375 + Missense_Mutation SNP C C A rs146332265 TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr5:6620375C>A ENST00000264670.6 - 7 970 c.659G>T c.(658-660)cGc>cTc p.R220L NSUN2_ENST00000506139.1_Missense_Mutation_p.R185L|NSUN2_ENST00000539938.1_5'UTR|NSUN2_ENST00000505264.1_5'UTR NM_017755.5 NP_060225.4 Q08J23 NSUN2_HUMAN NOP2/Sun RNA methyltransferase family, member 2 220 cytoplasm|nucleolus tRNA (cytosine-5-)-methyltransferase activity|tRNA binding breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 41 CAGGTAGCAGCGCTTGTTGTC 0.502000 27 80 3.65163e-15 4.56964e-15 1 1 0 ATP8B4 79895 broad.mit.edu 37 15 50331023 50331023 + Missense_Mutation SNP G G A TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr15:50331023G>A ENST00000284509.6 - 6 445 c.304C>T c.(304-306)Cgc>Tgc p.R102C ATP8B4_ENST00000559829.1_Missense_Mutation_p.R102C|ATP8B4_ENST00000558959.1_5'UTR NM_024837.2 NP_079113.2 Q8TF62 AT8B4_HUMAN ATPase, class I, type 8B, member 4 102 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) CTCTTGTGGCGAAACTGAAAA 0.363000 11 38 0 0 1 0 0 LOC100294341 100294341 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 5 65 0 0 1 0 0 MSH3 4437 broad.mit.edu 37 5 79952339 79952339 + Missense_Mutation SNP C C T TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr5:79952339C>T ENST00000265081.6 + 2 427 c.347C>T c.(346-348)tCt>tTt p.S116F NM_002439.4 NP_002430.3 P20585 MSH3_HUMAN mutS homolog 3 116 Interaction with EXO1. maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244) OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33) CTGGGAATGTCTGGCAACTCT 0.428000 Mismatch excision repair (MMR) 11 46 0 0 1 0 0 C1orf216 127703 broad.mit.edu 37 1 36181873 36181874 + Frame_Shift_Ins INS - - C TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr1:36181873_36181874insC ENST00000270815.4 - 2 819_820 c.49_50insG c.(49-51)cccfs p.P17fs C1orf216_ENST00000503824.1_5'UTR NM_152374.1 NP_689587.1 Q8TAB5 CA216_HUMAN chromosome 1 open reading frame 216 17 p.D17Y(1) kidney(2)|lung(3)|skin(2)|urinary_tract(1) 8 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196) AGGAGGTGGGTCCCCCAGGAAT 0.574 OREG0013357 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 31 --- --- --- --- HFM1 164045 broad.mit.edu 37 1 91841183 91841183 + Frame_Shift_Del DEL G G - TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr1:91841183delG ENST00000370425.3 - 12 1595 c.1497delC c.(1495-1497)ccfs p.P499fs HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Frame_Shift_Del_p.P178fs NM_001017975.3 NP_001017975.3 A2PYH4 HFM1_HUMAN HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) 499 ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 75 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) TACTACTGCAGGGAAATCCAA 0.413 15 79 --- --- --- --- CARF 79800 broad.mit.edu 37 2 203847093 203847106 + Frame_Shift_Del DEL CTGTTCATCGGATT CTGTTCATCGGATT - TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr2:203847093_203847106delCTGTTCATCGGATT ENST00000320443.8 + 15 3031_3044 c.1988_2001delCTGTTCATCGGATT c.(1987-2001)afs p.TVHRI663fs CARF_ENST00000545253.1_Frame_Shift_Del_p.TVHRI575fs|CARF_ENST00000545262.1_Frame_Shift_Del_p.TVHRI587fs|WDR12_ENST00000477723.1_Intron|CARF_ENST00000414439.1_Frame_Shift_Del_p.TVHRI561fs|CARF_ENST00000438828.2_Frame_Shift_Del_p.TVHRI663fs|CARF_ENST00000402905.2_Frame_Shift_Del_p.TVHRI663fs|CARF_ENST00000428585.1_Frame_Shift_Del_p.TVHRI587fs calcium responsive transcription factor CTGGAAGGAACTGTTCATCGGATTCTGTTGGGAG 0.407 9 48 --- --- --- --- AC073321.4 0 broad.mit.edu 37 2 217475031 217475032 + RNA INS - - AAA rs71401156 TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr2:217475031_217475032insAAA ENST00000441803.1 + 0 195 AATTTTATTTCAAAAAAAAAAA 0.376 6 7 --- --- --- --- SH3BP5 9467 broad.mit.edu 37 3 15373833 15373835 + In_Frame_Del DEL TCC TCC - TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr3:15373833_15373835delTCC ENST00000383791.3 - 1 301_303 c.81_83delGGA c.(79-84)gaa>ga p.EE27del SH3BP5_ENST00000408919.3_Intron|SH3BP5_ENST00000253688.5_5'UTR|SH3BP5_ENST00000465894.2_Intron|SH3BP5_ENST00000426925.1_Intron NM_004844.4 NP_004835.2 O60239 3BP5_HUMAN SH3-domain binding protein 5 (BTK-associated) 27 Glu-rich. intracellular signal transduction mitochondrion protein kinase inhibitor activity|SH3 domain binding NS(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|prostate(1) 12 catcccctcttcctcctcctcct 0.719 4 5 --- --- --- --- LOC344967 344967 broad.mit.edu 37 4 40045668 40045668 + RNA DEL C C - TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr4:40045668delC ENST00000381811.2 - 0 481 NR_027277.1 TCAGGATGGTCCCGCCTAGAC 0.612 2 4 --- --- --- --- PCDHB12 56124 broad.mit.edu 37 5 140590332 140590332 + Frame_Shift_Del DEL G G - TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr5:140590332delG ENST00000239450.2 + 1 2042 c.1853delG c.(1852-1854)tgfs p.W618fs PCDHB12_ENST00000541609.1_Frame_Shift_Del_p.W281fs NM_018932.3 NP_061755.1 Q9Y5F1 PCDBC_HUMAN 618 Cadherin 6. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTCGGCGTGTGGGCGCACAAT 0.687 9 142 --- --- --- --- PCDHGA8 9708 broad.mit.edu 37 5 140772972 140772972 + Frame_Shift_Del DEL C C - TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr5:140772972delC ENST00000398604.2 + 1 592 c.592delC c.(592-594)gcfs p.R198fs PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron NM_032088.1 NP_114477.1 endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 51 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTGCTGGAGCGCGCCCTGGA 0.632 19 46 --- --- --- --- NOTCH1 4851 broad.mit.edu 37 9 139397672 139397672 + Frame_Shift_Del DEL C C - TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr9:139397672delC ENST00000277541.6 - 27 5204 c.5129delG c.(5128-5130)gcfs p.G1710fs NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 1710 aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) GTTGAGGCTGCCCAGCGAGGC 0.657 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 21 28 --- --- --- --- RELA 5970 broad.mit.edu 37 11 65421910 65421911 + Frame_Shift_Ins INS - - C TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr11:65421910_65421911insC ENST00000406246.3 - 11 1855_1856 c.1594_1595insG c.(1594-1596)agafs p.R532fs RELA_ENST00000308639.9_Frame_Shift_Ins_p.R529fs|RELA_ENST00000525693.1_3'UTR NM_001243984.1|NM_001243985.1|NM_021975.3 NP_001230913.1|NP_001230914.1|NP_068810.3 Q04206 TF65_HUMAN v-rel avian reticuloendotheliosis viral oncogene homolog A 532 anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|transcription factor complex activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1) 19 GGAGAAGTCTTCATCTCCTGAA 0.639 7 54 --- --- --- --- NCAPD2 9918 broad.mit.edu 37 12 6639104 6639104 + Frame_Shift_Del DEL G G - TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr12:6639104delG ENST00000315579.5 + 29 4616 c.3817delG c.(3817-3819)ggfs p.G1273fs NCAPD2_ENST00000545962.1_Frame_Shift_Del_p.G1228fs NM_014865.3 NP_055680.3 Q15021 CND1_HUMAN non-SMC condensin I complex, subunit D2 1273 cell division|mitotic chromosome condensation condensin core heterodimer|cytoplasm histone binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 48 GCTGCGACGTGGGGCCAAGCC 0.532 11 53 --- --- --- --- CYSLTR2 57105 broad.mit.edu 37 13 49281365 49281366 + Frame_Shift_Ins INS - - T TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr13:49281365_49281366insT ENST00000282018.3 + 1 415_416 c.412_413insT c.(412-414)ggcfs p.G138fs NM_020377.2 NP_065110.1 Q9NS75 CLTR2_HUMAN cysteinyl leukotriene receptor 2 138 immune response integral to membrane|plasma membrane endometrium(2)|large_intestine(4)|lung(12)|skin(2) 20 all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787) GBM - Glioblastoma multiforme(99;1.19e-09) Nedocromil(DB00716) TGTGCGTTTCCTGGCAATGGTT 0.470 17 112 --- --- --- --- OR4K17 390436 broad.mit.edu 37 14 20585576 20585577 + Frame_Shift_Ins INS - - C TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr14:20585576_20585577insC ENST00000315543.4 + 1 11_12 c.11_12insC c.(10-12)tttfs p.F4fs NM_001004715.1 NP_001004715.1 Q8NGC6 OR4KH_HUMAN olfactory receptor, family 4, subfamily K, member 17 0 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3) 21 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.77e-06) GBM - Glioblastoma multiforme(265;0.0144) ATGGCTCTTTATTTTTCACTCA 0.361 13 26 --- --- --- --- STOML1 9399 broad.mit.edu 37 15 74281125 74281125 + Frame_Shift_Del DEL C C - TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr15:74281125delC ENST00000316900.5 - 4 533 c.409delG c.(409-411)ctfs p.A137fs STOML1_ENST00000561656.1_Frame_Shift_Del_p.A50fs|STOML1_ENST00000359750.4_Frame_Shift_Del_p.A137fs|STOML1_ENST00000316911.6_Frame_Shift_Del_p.A87fs|STOML1_ENST00000564777.1_Frame_Shift_Del_p.A87fs|STOML1_ENST00000541638.1_Frame_Shift_Del_p.A95fs NM_001256672.1|NM_001256675.1|NM_001256677.1|NM_004809.4 NP_001243601.1|NP_001243604.1|NP_001243606.1|NP_004800.2 Q9UBI4 STML1_HUMAN stomatin (EPB72)-like 1 137 integral to membrane sterol binding endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1) 8 GACAGCACAGCCCCGTCCTTA 0.632 15 93 --- --- --- --- RP11-51O6.1 0 broad.mit.edu 37 16 61089302 61089302 + RNA DEL C C - rs80101907 TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr16:61089302delC ENST00000591758.1 - 0 566 GCttcttcttctttttttttt 0.244 7 16 --- --- --- --- DNAJB7 150353 broad.mit.edu 37 22 41257531 41257531 + Frame_Shift_Del DEL T T - TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chr22:41257531delT ENST00000307221.4 - 1 599 c.468delA c.(466-468)ggfs p.G156fs XPNPEP3_ENST00000482652.1_Intron|XPNPEP3_ENST00000357137.4_Intron|XPNPEP3_ENST00000414396.1_Intron|XPNPEP3_ENST00000541156.1_Intron NM_145174.1 NP_660157.1 Q7Z6W7 DNJB7_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 7 156 protein folding heat shock protein binding|unfolded protein binding breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 10 GTGATGTATATCCTGTATCAT 0.393 15 52 --- --- --- --- USP9X 8239 broad.mit.edu 37 X 41073879 41073879 + Frame_Shift_Del DEL C C - TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx c360fffa-f19a-4a7e-bce4-960421c65939 a028c0fd-8b5f-4788-905e-d90e3ab8e87b g.chrX:41073879delC ENST00000324545.7 + 34 5881 c.5248delC c.(5248-5250)ttfs p.L1751fs USP9X_ENST00000378308.2_Frame_Shift_Del_p.L1751fs NM_001039590.2|NM_001039591.2 NP_001034679.2|NP_001034680.2 Q93008 USP9X_HUMAN ubiquitin specific peptidase 9, X-linked 1751 BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 TCACCAAAATCTTCTTGATTC 0.333 17 19 --- --- --- ---