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 VPS13D 55187 broad.mit.edu 37 1 12374350 12374350 + Missense_Mutation SNP A A C TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr1:12374350A>C ENST00000358136.3 + 30 7244 c.7114A>C c.(7114-7116)Acc>Ccc p.T2372P VPS13D_ENST00000356315.4_Missense_Mutation_p.T2372P NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 2372 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) CAGCAGCACCACCCAAGGGTC 0.502 3 12 --- --- --- --- PADI4 23569 broad.mit.edu 37 1 17668541 17668541 + Missense_Mutation SNP G G C TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr1:17668541G>C ENST00000375448.4 + 7 782 c.756G>C c.(754-756)gaG>gaC p.E252D AC004824.2_ENST00000602074.1_Intron NM_012387.2 NP_036519.2 Q9UM07 PADI4_HUMAN peptidyl arginine deiminase, type IV 252 chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3) 26 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199) L-Citrulline(DB00155) TCTACGTGGAGGCCCTCGCTT 0.602 25 39 --- --- --- --- MRTO4 51154 broad.mit.edu 37 1 19584333 19584333 + Missense_Mutation SNP C C G TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr1:19584333C>G ENST00000330263.4 + 6 645 c.348C>G c.(346-348)ttC>ttG p.F116L NM_016183.3 NP_057267.2 Q9UKD2 MRT4_HUMAN mRNA turnover 4 homolog (S. cerevisiae) 116 ribosome biogenesis nuclear membrane|nucleolus breast(1)|endometrium(1)|large_intestine(1)|liver(2)|ovary(1)|pancreas(1)|stomach(1) 8 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) TTAGGTGGTTCACGAAATACA 0.592 25 55 --- --- --- --- WASF2 10163 broad.mit.edu 37 1 27744831 27744831 + Missense_Mutation SNP C C G TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr1:27744831C>G ENST00000430629.2 - 4 573 c.358G>C c.(358-360)Gtc>Ctc p.V120L WASF2_ENST00000536657.1_Missense_Mutation_p.V120L NM_001201404.1|NM_006990.3 NP_001188333.1|NP_008921.1 Q9Y6W5 WASF2_HUMAN WAS protein family, member 2 120 actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger actin cytoskeleton|lamellipodium actin binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 18 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481) GTTTCTAAGACAGGCACTGGG 0.458 16 27 --- --- --- --- KIAA0754 643314 broad.mit.edu 37 1 39877441 39877441 + Nonsense_Mutation SNP G G T TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr1:39877441G>T ENST00000530275.1 + 1 1291 c.1096G>T c.(1096-1098)Gaa>Taa p.E366* MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000545844.1_Intron NM_015038.1 NP_055853.1 O94854 K0754_HUMAN KIAA0754 366 central_nervous_system(1)|large_intestine(6)|skin(1) 8 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CCAGGATGCAGAAAATTTACT 0.393 10 17 --- --- --- --- DMBX1 127343 broad.mit.edu 37 1 46976632 46976632 + Missense_Mutation SNP A A C TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr1:46976632A>C ENST00000371956.4 + 3 389 c.374A>C c.(373-375)aAg>aCg p.K125T DMBX1_ENST00000360032.3_Missense_Mutation_p.K120T NM_147192.2 NP_671725.1 Q8NFW5 DMBX1_HUMAN diencephalon/mesencephalon homeobox 1 125 Interacts with OXT2 and is required for repressor activity (By similarity). brain development|developmental growth|negative regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Acute lymphoblastic leukemia(166;0.155) CGCCGGGCCAAGTTCCGGAAG 0.627 8 25 --- --- --- --- FOXD2 2306 broad.mit.edu 37 1 47904210 47904210 + Missense_Mutation SNP C C G TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr1:47904210C>G ENST00000334793.5 + 1 2522 c.403C>G c.(403-405)Ctc>Gtc p.L135V NM_004474.3 NP_004465.3 O60548 FOXD2_HUMAN forkhead box D2 135 axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding lung(4) 4 READ - Rectum adenocarcinoma(2;0.0908) GTACATCGCGCTCATCACCAT 0.716 12 11 --- --- --- --- MYSM1 114803 broad.mit.edu 37 1 59147849 59147849 + Silent SNP A A T TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr1:59147849A>T ENST00000472487.1 - 8 906 c.867T>A c.(865-867)ctT>ctA p.L289L MYSM1_ENST00000493821.1_5'UTR NM_001085487.2 NP_001078956.1 Q5VVJ2 MYSM1_HUMAN Myb-like, SWIRM and MPN domains 1 289 histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromatin remodeling complex DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_cancers(7;9.36e-06) CTGAGCTTGAAAGTGTTTCAT 0.348 30 21 --- --- --- --- DPH5 51611 broad.mit.edu 37 1 101487277 101487277 + Silent SNP T T C TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr1:101487277T>C ENST00000370109.3 - 3 292 c.180A>G c.(178-180)gaA>gaG p.E60E DPH5_ENST00000370105.3_5'UTR|DPH5_ENST00000342173.7_Silent_p.E60E|DPH5_ENST00000488176.1_Silent_p.E60E NM_001077394.1|NM_001077395.1|NM_015958.2 NP_001070862.1|NP_001070863.1|NP_057042.2 Q9H2P9 DPH5_HUMAN diphthamide biosynthesis 5 60 peptidyl-diphthamide biosynthetic process from peptidyl-histidine diphthine synthase activity endometrium(2)|large_intestine(1)|lung(4) 7 all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946) Epithelial(280;0.0385)|all cancers(265;0.043)|COAD - Colon adenocarcinoma(174;0.151)|Colorectal(144;0.173)|Lung(183;0.198) CTTGTTCCACTTCTTCTCTAT 0.368 11 16 --- --- --- --- PSRC1 84722 broad.mit.edu 37 1 109824258 109824258 + Missense_Mutation SNP G G A TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr1:109824258G>A ENST00000438534.2 - 4 640 c.502C>T c.(502-504)Ccc>Tcc p.P168S PSRC1_ENST00000369909.2_Missense_Mutation_p.P168S|PSRC1_ENST00000369903.2_Missense_Mutation_p.P168S|PSRC1_ENST00000369904.3_Missense_Mutation_p.P168S|PSRC1_ENST00000409138.2_Missense_Mutation_p.P168S|PSRC1_ENST00000369907.3_Missense_Mutation_p.P168S|PSRC1_ENST00000409267.1_Missense_Mutation_p.P168S NM_001005290.3 NP_001005290.1 Q6PGN9 PSRC1_HUMAN proline/serine-rich coiled-coil 1 168 4 X 4 AA repeats of P-X-X-P. cell division|microtubule bundle formation|mitotic metaphase plate congression|negative regulation of cell growth|positive regulation of microtubule polymerization|positive regulation of transcription, DNA-dependent|regulation of mitotic spindle organization cytosol|midbody|spindle pole microtubule binding endometrium(1)|large_intestine(1)|lung(2)|prostate(2)|skin(1) 7 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0286)|Lung(183;0.0658)|COAD - Colon adenocarcinoma(174;0.112)|Epithelial(280;0.188)|all cancers(265;0.213) ATGTTGGAGGGCCTCTTTCCA 0.567 19 35 --- --- --- --- PEAR1 375033 broad.mit.edu 37 1 156877420 156877420 + Silent SNP C C T TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr1:156877420C>T ENST00000338302.3 + 8 888 c.663C>T c.(661-663)tcC>tcT p.S221S PEAR1_ENST00000292357.7_Silent_p.S221S Q5VY43 PEAR1_HUMAN platelet endothelial aggregation receptor 1 221 integral to membrane breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1) 43 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) TGTCCTGTTCCCAGGGCACTT 0.577 118 122 --- --- --- --- F5 2153 broad.mit.edu 37 1 169483633 169483633 + Missense_Mutation SNP G G A TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr1:169483633G>A ENST00000367796.3 - 25 6809 c.6608C>T c.(6607-6609)tCc>tTc p.S2203F F5_ENST00000367797.3_Missense_Mutation_p.S2198F P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 2198 F5/8 type C 2. 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) GATAAACCTGGAAATGATTGG 0.348 10 22 --- --- --- --- GPR137B 7107 broad.mit.edu 37 1 236306076 236306076 + Missense_Mutation SNP T T G TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr1:236306076T>G ENST00000366592.3 + 1 245 c.154T>G c.(154-156)Ttc>Gtc p.F52V GPR137B_ENST00000366591.4_Missense_Mutation_p.F52V NM_003272.3 NP_003263.1 O60478 G137B_HUMAN G protein-coupled receptor 137B 52 integral to plasma membrane|membrane fraction endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 Ovarian(103;0.0634)|Breast(184;0.247) all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226) OV - Ovarian serous cystadenocarcinoma(106;0.00162) CTACACCGTGTTCTACGCGCT 0.652 9 30 --- --- --- --- RYR2 6262 broad.mit.edu 37 1 237756847 237756847 + Silent SNP T T C TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr1:237756847T>C ENST00000366574.2 + 33 4664 c.4347T>C c.(4345-4347)gaT>gaC p.D1449D RYR2_ENST00000360064.6_Silent_p.D1447D|RYR2_ENST00000542537.1_Silent_p.D1433D NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1449 4 X approximate repeats.|B30.2/SPRY 3. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TTACATCAGATTTCCATCAGT 0.418 4 61 --- --- --- --- TTC7A 57217 broad.mit.edu 37 2 47256512 47256512 + Silent SNP T T A TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr2:47256512T>A ENST00000319190.5 + 15 2159 c.1791T>A c.(1789-1791)ccT>ccA p.P597P TTC7A_ENST00000409245.1_Silent_p.P563P|TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000394850.2_Silent_p.P597P|TTC7A_ENST00000263737.6_Silent_p.P243P NM_020458.2 NP_065191.2 Q9ULT0 TTC7A_HUMAN tetratricopeptide repeat domain 7A 597 binding breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114) CCGAGCACCCTGAGAACTTCA 0.622 24 47 --- --- --- --- HK2 3099 broad.mit.edu 37 2 75081432 75081432 + Missense_Mutation SNP C C A TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr2:75081432C>A ENST00000290573.2 + 2 676 c.76C>A c.(76-78)Ctc>Atc p.L26I HK2_ENST00000409174.1_5'UTR NM_000189.4 NP_000180.2 P52789 HXK2_HUMAN hexokinase 2 26 Regulatory. apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane ATP binding|glucokinase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 43 TGACCAGTATCTCTACCACAT 0.493 65 119 --- --- --- --- REG1P 5969 broad.mit.edu 37 2 79365096 79365096 + RNA SNP G G A TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr2:79365096G>A ENST00000444841.1 - 0 162 ATCTCACCTTGGCTCAGAGAC 0.493 4 10 --- --- --- --- REG1P 5969 broad.mit.edu 37 2 79365097 79365097 + RNA SNP G G T TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr2:79365097G>T ENST00000444841.1 - 0 161 TCTCACCTTGGCTCAGAGACA 0.498 4 10 --- --- --- --- RNF149 284996 broad.mit.edu 37 2 101893716 101893716 + Missense_Mutation SNP C C A TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr2:101893716C>A ENST00000295317.3 - 7 1294 c.1187G>T c.(1186-1188)gGa>gTa p.G396V NM_173647.3 NP_775918.2 Q8NC42 RN149_HUMAN ring finger protein 149 396 integral to membrane ligase activity|zinc ion binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 12 GATGGGTCCTCCATGCCGAGA 0.458 6 5 --- --- --- --- KIF5C 3800 broad.mit.edu 37 2 149806898 149806898 + Missense_Mutation SNP G G A TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr2:149806898G>A ENST00000435030.1 + 10 1258 c.890G>A c.(889-891)aGa>aAa p.R297K KIF5C_ENST00000397413.1_Missense_Mutation_p.R65K|KIF5C_ENST00000414838.2_Missense_Mutation_p.R202K|KIF5C_ENST00000464066.1_3'UTR O60282 KIF5C_HUMAN kinesin family member 5C 297 Kinesin-motor.|Microtubule-binding. microtubule-based movement|organelle organization cytoplasm|kinesin complex|microtubule ATP binding|microtubule motor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 BRCA - Breast invasive adenocarcinoma(221;0.108) GGGAACTGCAGAACCACCATC 0.468 5 21 --- --- --- --- CACNB4 785 broad.mit.edu 37 2 152830186 152830186 + Missense_Mutation SNP C C A TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr2:152830186C>A ENST00000360283.6 - 1 299 c.42G>T c.(40-42)gaG>gaT p.E14D CACNB4_ENST00000534999.1_Missense_Mutation_p.E14D|CACNB4_ENST00000539935.1_Intron|CACNB4_ENST00000427385.1_Intron|CACNB4_ENST00000397327.2_De_novo_Start_InFrame|CACNB4_ENST00000201943.5_Intron|CACNB4_ENST00000475848.1_5'UTR O00305 CACB4_HUMAN calcium channel, voltage-dependent, beta 4 subunit 0 axon guidance|membrane depolarization|synaptic transmission cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2) 11 BRCA - Breast invasive adenocarcinoma(221;0.156) Verapamil(DB00661) TACTTACAGCCTCCGAGTCTT 0.468 5 11 --- --- --- --- SPEG 10290 broad.mit.edu 37 2 220333704 220333704 + Missense_Mutation SNP A A G TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr2:220333704A>G ENST00000312358.7 + 12 3557 c.3425A>G c.(3424-3426)cAt>cGt p.H1142R SPEG_ENST00000485813.1_3'UTR NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 1142 Ig-like 5. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) GTTAACACCCATGGCCAGGCC 0.652 7 35 --- --- --- --- AP1S3 130340 broad.mit.edu 37 2 224642531 224642531 + Missense_Mutation SNP T T A TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr2:224642531T>A ENST00000443700.1 - 2 210 c.59A>T c.(58-60)tAc>tTc p.Y20F AP1S3_ENST00000396654.2_Missense_Mutation_p.Y20F|AP1S3_ENST00000423110.1_Missense_Mutation_p.Y20F|AP1S3_ENST00000446015.2_Missense_Mutation_p.Y20F|AP1S3_ENST00000396653.2_Missense_Mutation_p.Y20F|AP1S3_ENST00000409375.1_Missense_Mutation_p.Y20F Q96PC3 AP1S3_HUMAN adaptor-related protein complex 1, sigma 3 subunit 20 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane coat protein transporter activity NS(1)|breast(1)|lung(2) 4 Renal(207;0.0112)|Lung NSC(271;0.0186)|all_lung(227;0.0272) Epithelial(121;7.6e-10)|all cancers(144;3.62e-07)|Lung(261;0.0086)|LUSC - Lung squamous cell carcinoma(224;0.00902) GAGAGTGATGTACCATTTCTG 0.423 10 11 --- --- --- --- GPR55 9290 broad.mit.edu 37 2 231775091 231775091 + Missense_Mutation SNP A A G TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr2:231775091A>G ENST00000392040.1 - 2 779 c.587T>C c.(586-588)aTc>aCc p.I196T GPR55_ENST00000392039.2_Missense_Mutation_p.I196T NM_005683.3 NP_005674.2 Q9Y2T6 GPR55_HUMAN G protein-coupled receptor 55 196 activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction integral to plasma membrane cannabinoid receptor activity endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204) Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145) GAAGCCCATGATGCCCATGGG 0.567 34 55 --- --- --- --- TTLL3 26140 broad.mit.edu 37 3 9855030 9855030 + Splice_Site SNP G G A TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr3:9855030G>A ENST00000547186.1 + 4 531 c.e4+1 TTLL3_ENST00000397241.1_Splice_Site|TTLL3_ENST00000426895.4_Splice_Site|TTLL3_ENST00000427853.3_Splice_Site|ARPC4-TTLL3_ENST00000397256.1_Splice_Site NM_001025930.3 NP_001021100.3 Q9Y4R7 TTLL3_HUMAN tubulin tyrosine ligase-like family, member 3 axoneme assembly|cilium assembly|protein polyglycylation cilium axoneme|cytoplasm|microtubule protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1) 26 Medulloblastoma(99;0.227) TGCTCTGATGGTGAGGGCCCT 0.517 5 7 --- --- --- --- DALRD3 55152 broad.mit.edu 37 3 49053448 49053448 + Missense_Mutation SNP G G T TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr3:49053448G>T ENST00000440857.1 - 11 1602 c.900C>A c.(898-900)gaC>gaA p.D300E DALRD3_ENST00000441576.2_Missense_Mutation_p.L459M|DALRD3_ENST00000313778.5_Missense_Mutation_p.D300E|DALRD3_ENST00000341949.4_Missense_Mutation_p.D467E|DALRD3_ENST00000395462.4_Missense_Mutation_p.D300E Q5D0E6 DALD3_HUMAN DALR anticodon binding domain containing 3 467 arginyl-tRNA aminoacylation cytoplasm arginine-tRNA ligase activity|ATP binding breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1) 12 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) GGGCTGTGCAGTCCAGCACTG 0.567 19 41 --- --- --- --- ATR 545 broad.mit.edu 37 3 142204017 142204017 + Silent SNP A A T TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr3:142204017A>T ENST00000350721.4 - 36 6307 c.6186T>A c.(6184-6186)ggT>ggA p.G2062G ATR_ENST00000383101.3_Silent_p.G1998G NM_001184.3 NP_001175.2 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related 2062 FAT. cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4) 122 GGATGAGATCACCTTGCTTTT 0.408 Other conserved DNA damage response genes 5 57 --- --- --- --- MME 4311 broad.mit.edu 37 3 154884795 154884795 + Missense_Mutation SNP G G T TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr3:154884795G>T ENST00000460393.1 + 18 1885 c.1765G>T c.(1765-1767)Ggc>Tgc p.G589C MME_ENST00000493237.1_Missense_Mutation_p.G589C|MME-AS1_ENST00000484721.1_RNA|MME_ENST00000360490.2_Missense_Mutation_p.G589C|MME_ENST00000462745.1_Missense_Mutation_p.G589C|MME_ENST00000492661.1_Missense_Mutation_p.G589C NM_000902.3|NM_007287.2 NP_000893.2|NP_009218.2 P08473 NEP_HUMAN membrane metallo-endopeptidase 589 cell-cell signaling|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122) LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135) Candoxatril(DB00616) AATCACCCATGGCTTCGATGA 0.443 19 75 --- --- --- --- SERPINI1 5274 broad.mit.edu 37 3 167525032 167525032 + Splice_Site SNP G G T TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr3:167525032G>T ENST00000295777.5 + 6 1313 c.882G>T c.(880-882)agG>agT p.R294S SERPINI1_ENST00000488374.1_3'UTR|SERPINI1_ENST00000446050.2_Splice_Site_p.R294S NM_005025.4 NP_005016.1 Q99574 NEUS_HUMAN serpin peptidase inhibitor, clade I (neuroserpin), member 1 294 central nervous system development|peripheral nervous system development|regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2) 20 TGTTCTCCAGGTTCACAGTGG 0.348 5 35 --- --- --- --- ZNF721 170960 broad.mit.edu 37 4 436020 436020 + Missense_Mutation SNP T T C TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr4:436020T>C ENST00000338977.5 - 2 2248 c.2200A>G c.(2200-2202)Att>Gtt p.I734V ZNF721_ENST00000507078.1_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000511833.2_Missense_Mutation_p.I746V|ZNF721_ENST00000506646.1_Intron zinc finger protein 721 endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1) 33 CCAGTATGAATTTTCTTATAT 0.378 9 11 --- --- --- --- ZNF518B 85460 broad.mit.edu 37 4 10445228 10445228 + Missense_Mutation SNP G G A TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr4:10445228G>A ENST00000326756.3 - 3 3163 c.2725C>T c.(2725-2727)Cgc>Tgc p.R909C NM_053042.2 NP_444270.2 Q9C0D4 Z518B_HUMAN zinc finger protein 518B 909 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 TTGAGACAGCGGCTAGGTTCA 0.428 20 51 --- --- --- --- AFF1 4299 broad.mit.edu 37 4 87968120 87968120 + Missense_Mutation SNP C C A TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr4:87968120C>A ENST00000307808.6 + 3 832 c.412C>A c.(412-414)Cca>Aca p.P138T AFF1_ENST00000544085.1_Intron|AFF1_ENST00000395146.4_Missense_Mutation_p.P145T NM_005935.2 NP_005926.1 P51825 AFF1_HUMAN AF4/FMR2 family, member 1 138 nucleus sequence-specific DNA binding transcription factor activity breast(1)|large_intestine(2) 3 Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000233) GATGGCGCAGCCAAGAACTGA 0.572 15 33 --- --- --- --- TENM3 55714 broad.mit.edu 37 4 183714866 183714866 + Silent SNP C C A TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr4:183714866C>A ENST00000511685.1 + 26 7164 c.7041C>A c.(7039-7041)acC>acA p.T2347T TENM3_ENST00000406950.2_Silent_p.T2347T teneurin transmembrane protein 3 ACCCACTCACCAAATTAATCC 0.408 21 33 --- --- --- --- STOX2 56977 broad.mit.edu 37 4 184930515 184930515 + Missense_Mutation SNP C C A TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr4:184930515C>A ENST00000308497.4 + 3 1959 c.524C>A c.(523-525)cCc>cAc p.P175H STOX2_ENST00000438269.1_Missense_Mutation_p.P175H NM_020225.1 NP_064610.1 Q9P2F5 STOX2_HUMAN storkhead box 2 175 embryo development|maternal placenta development breast(1)|endometrium(7)|lung(6) 14 all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283) all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227) TCTCCGCAACCCGGGACCATC 0.537 27 57 --- --- --- --- PRR16 51334 broad.mit.edu 37 5 120022392 120022392 + Silent SNP T T C TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr5:120022392T>C ENST00000379551.2 + 3 1191 c.834T>C c.(832-834)acT>acC p.T278T PRR16_ENST00000407149.2_Silent_p.T301T|PRR16_ENST00000505123.1_Silent_p.T231T|PRR16_ENST00000446965.1_Silent_p.T231T NM_016644.1 NP_057728.1 Q569H4 PRR16_HUMAN proline rich 16 301 Pro-rich. endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 28 all_cancers(142;0.0464)|Prostate(80;0.00446) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169) AGTCAACCACTACAACCGTGT 0.373 18 19 --- --- --- --- PCDHGA8 9708 broad.mit.edu 37 5 140773100 140773100 + Silent SNP G G A TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr5:140773100G>A ENST00000398604.2 + 1 720 c.720G>A c.(718-720)ccG>ccA p.P240P PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_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) ACAATGCCCCGGTTTTTCCTC 0.582 26 64 --- --- --- --- SPRY4 81848 broad.mit.edu 37 5 141694233 141694233 + Silent SNP C C T TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr5:141694233C>T ENST00000344120.4 - 3 696 c.510G>A c.(508-510)gcG>gcA p.A170A SPRY4_ENST00000434127.2_Silent_p.A147A NM_030964.3 NP_112226.2 Q9C004 SPY4_HUMAN sprouty homolog 4 (Drosophila) 147 Cys-rich.|SPR. multicellular organismal development cytoplasm|ruffle membrane protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1) 18 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGGGTGGGACCGCCGGGCCCT 0.652 Testicular Cancer, Familial Clustering of 6 86 --- --- --- --- TTC1 7265 broad.mit.edu 37 5 159437759 159437759 + Missense_Mutation SNP G G T TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr5:159437759G>T ENST00000231238.5 + 2 334 c.224G>T c.(223-225)gGa>gTa p.G75V TTC1_ENST00000522793.1_Missense_Mutation_p.G75V NM_001282500.1|NM_003314.1 NP_001269429.1|NP_003305.1 Q99614 TTC1_HUMAN tetratricopeptide repeat domain 1 75 protein folding unfolded protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|prostate(1)|skin(1) 12 Renal(175;0.00196) all_hematologic(541;0.00014)|Breast(839;0.0101)|all_neural(177;0.0281)|Medulloblastoma(196;0.0425)|Lung NSC(249;0.119)|all_lung(500;0.163) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Epithelial(171;8.37e-05)|all cancers(165;0.000694)|OV - Ovarian serous cystadenocarcinoma(192;0.0402) GAGGAGCCAGGAGCGGACAAG 0.463 5 15 --- --- --- --- C5orf45 51149 broad.mit.edu 37 5 179264557 179264557 + Missense_Mutation SNP G G A TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr5:179264557G>A ENST00000292586.6 - 7 956 c.866C>T c.(865-867)aCa>aTa p.T289I C5orf45_ENST00000523084.1_Missense_Mutation_p.T155I|SQSTM1_ENST00000376929.3_3'UTR|C5orf45_ENST00000520698.1_Intron|C5orf45_ENST00000403396.2_Intron|C5orf45_ENST00000518219.1_3'UTR|C5orf45_ENST00000518235.1_Intron|SQSTM1_ENST00000389805.4_3'UTR|C5orf45_ENST00000523267.1_5'UTR|C5orf45_ENST00000376931.2_Missense_Mutation_p.T234I NM_016175.3 NP_057259.2 Q6NTE8 CE045_HUMAN chromosome 5 open reading frame 45 289 breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1) 12 GACGGGGTGTGTGGCCCGAGG 0.662 34 66 --- --- --- --- RNF8 9025 broad.mit.edu 37 6 37336834 37336834 + Missense_Mutation SNP A A G TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr6:37336834A>G ENST00000373479.4 + 3 1008 c.815A>G c.(814-816)aAt>aGt p.N272S RNF8_ENST00000469731.1_Missense_Mutation_p.N272S|RNF8_ENST00000479516.1_3'UTR NM_003958.3|NM_183078.2 NP_003949.1|NP_898901.1 O76064 RNF8_HUMAN ring finger protein 8, E3 ubiquitin protein ligase 272 cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation midbody|nucleus|ubiquitin ligase complex chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1) 13 GCCGTTATGAATGTGAAAAAG 0.453 11 30 --- --- --- --- MYO6 4646 broad.mit.edu 37 6 76599811 76599811 + Missense_Mutation SNP A A G TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr6:76599811A>G ENST00000369981.3 + 26 2975 c.2696A>G c.(2695-2697)tAt>tGt p.Y899C MYO6_ENST00000369977.3_Missense_Mutation_p.Y899C|MYO6_ENST00000369985.4_Missense_Mutation_p.Y899C|MYO6_ENST00000369975.1_Missense_Mutation_p.Y899C Q9UM54 MYO6_HUMAN myosin VI 899 actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 all_hematologic(105;0.189) BRCA - Breast invasive adenocarcinoma(397;0.223) CAGAAAGAATATGATGCACTG 0.368 3 48 --- --- --- --- KIAA1244 57221 broad.mit.edu 37 6 138655654 138655654 + Missense_Mutation SNP C C T TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr6:138655654C>T ENST00000251691.4 + 33 5837 c.5671C>T c.(5671-5673)Cct>Tct p.P1891S NM_020340.4 NP_065073.3 Q5TH69 BIG3_HUMAN KIAA1244 1891 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2) 44 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) CAGCGTCCAGCCTGTCAGCAA 0.572 9 13 --- --- --- --- DYNLT1 6993 broad.mit.edu 37 6 159057917 159057917 + Missense_Mutation SNP A A C TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr6:159057917A>C ENST00000367089.3 - 5 314 c.284T>G c.(283-285)gTg>gGg p.V95G DYNLT1_ENST00000367088.1_3'UTR NM_006519.2 NP_006510.1 P63172 DYLT1_HUMAN dynein, light chain, Tctex-type 1 95 Interaction with GNB1 (By similarity). cell division|establishment of mitotic spindle orientation|intracellular transport of viral proteins in host cell|mitosis|negative regulation of neurogenesis|regulation of G-protein coupled receptor protein signaling pathway cytoplasmic dynein complex|Golgi apparatus|microtubule|spindle identical protein binding|motor activity lung(2) 2 Breast(66;0.00519)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;4.02e-18)|BRCA - Breast invasive adenocarcinoma(81;9.53e-06) CTCCCATCGCACAGTGCAGCT 0.512 3 17 --- --- --- --- PSMG3 84262 broad.mit.edu 37 7 1608783 1608783 + Missense_Mutation SNP T T C TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr7:1608783T>C ENST00000288607.2 - 1 846 c.193A>G c.(193-195)Aaa>Gaa p.K65E PSMG3_ENST00000252329.3_Missense_Mutation_p.K65E|PSMG3_ENST00000404674.3_Missense_Mutation_p.K65E NM_032302.3 NP_115678.1 Q9BT73 PSMG3_HUMAN proteasome (prosome, macropain) assembly chaperone 3 65 lung(2) 2 Ovarian(82;0.11) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.63e-15) AGAAGGACTTTTGTGGTGAGC 0.602 19 24 --- --- --- --- AVL9 23080 broad.mit.edu 37 7 32591878 32591878 + Missense_Mutation SNP C C T TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr7:32591878C>T ENST00000318709.4 + 6 721 c.500C>T c.(499-501)gCt>gTt p.A167V AVL9_ENST00000404479.1_Missense_Mutation_p.A167V|AVL9_ENST00000409301.1_Missense_Mutation_p.A167V NM_015060.1 NP_055875.1 Q8NBF6 AVL9_HUMAN AVL9 homolog (S. cerevisiase) 167 integral to membrane endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 TTGGGAGGTGCTTCATTAGAA 0.313 3 16 --- --- --- --- ABCA13 154664 broad.mit.edu 37 7 48266865 48266865 + Missense_Mutation SNP C C A TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr7:48266865C>A ENST00000435803.1 + 6 499 c.475C>A c.(475-477)Ctc>Atc p.L159I NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 159 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 TCAGATGGATCTCAATAAGAC 0.388 4 75 --- --- --- --- TECPR1 25851 broad.mit.edu 37 7 97860340 97860340 + Missense_Mutation SNP C C T TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr7:97860340C>T ENST00000447648.2 - 15 2514 c.2215G>A c.(2215-2217)Gac>Aac p.D739N TECPR1_ENST00000542604.1_Missense_Mutation_p.D669N|TECPR1_ENST00000379795.3_Missense_Mutation_p.D740N Q7Z6L1 TCPR1_HUMAN tectonin beta-propeller repeat containing 1 739 integral to membrane protein binding central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 ACGAAGATGTCCCCCTTGCAG 0.692 6 36 --- --- --- --- RELN 5649 broad.mit.edu 37 7 103124148 103124148 + Missense_Mutation SNP T T A TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr7:103124148T>A ENST00000428762.1 - 62 10292 c.10133A>T c.(10132-10134)cAg>cTg p.Q3378L CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Missense_Mutation_p.Q3378L|RELN_ENST00000473945.1_5'UTR|RELN_ENST00000424685.2_Missense_Mutation_p.Q3378L NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 3378 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) GTCCTTTGGCTGGTGCTGGGC 0.537 42 154 --- --- --- --- CTTNBP2 83992 broad.mit.edu 37 7 117501355 117501355 + Missense_Mutation SNP C C G TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr7:117501355C>G ENST00000160373.3 - 2 188 c.97G>C c.(97-99)Gtg>Ctg p.V33L NM_033427.2 NP_219499.1 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 33 breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) AGAGTATCCACATCAAACTCT 0.458 3 19 --- --- --- --- TTC26 79989 broad.mit.edu 37 7 138833005 138833005 + Missense_Mutation SNP A A G TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr7:138833005A>G ENST00000464848.1 + 7 679 c.599A>G c.(598-600)tAc>tGc p.Y200C TTC26_ENST00000430935.1_Missense_Mutation_p.Y200C|TTC26_ENST00000343187.4_Missense_Mutation_p.Y169C|TTC26_ENST00000481482.1_3'UTR|TTC26_ENST00000474035.2_Missense_Mutation_p.Y200C|TTC26_ENST00000478836.2_Intron|TTC26_ENST00000495038.1_Intron A0AVF1 TTC26_HUMAN tetratricopeptide repeat domain 26 200 binding breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 24 AAGTTGGATTACTATGATGTG 0.393 4 73 --- --- --- --- TRBV6-6 28601 broad.mit.edu 37 7 142162078 142162078 + RNA SNP T T A TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr7:142162078T>A ENST00000390371.3 - 0 240 AACTGAATAATAAATCAGCTT 0.478 69 81 --- --- --- --- RALYL 138046 broad.mit.edu 37 8 85686864 85686864 + Missense_Mutation SNP A A G TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr8:85686864A>G ENST00000521268.1 + 3 1412 c.307A>G c.(307-309)Aag>Gag p.K103E RALYL_ENST00000521376.1_Missense_Mutation_p.K30E|RALYL_ENST00000523850.1_Missense_Mutation_p.K30E|RALYL_ENST00000521695.1_Missense_Mutation_p.K103E|RALYL_ENST00000517638.1_Missense_Mutation_p.K116E|RALYL_ENST00000518566.1_Missense_Mutation_p.K103E|RALYL_ENST00000522455.1_Missense_Mutation_p.K103E NM_173848.5 NP_776247.3 Q86SE5 RALYL_HUMAN RALY RNA binding protein-like 103 identical protein binding|nucleotide binding|RNA binding endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1) 24 ACCTGGAAACAAGAGGCCCCT 0.353 6 11 --- --- --- --- CA2 760 broad.mit.edu 37 8 86386011 86386011 + Missense_Mutation SNP A A T TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr8:86386011A>T ENST00000285379.5 + 3 552 c.322A>T c.(322-324)Act>Tct p.T108S NM_000067.2 NP_000058.1 P00918 CAH2_HUMAN carbonic anhydrase II 108 one-carbon metabolic process apical part of cell carbonate dehydratase activity|zinc ion binding central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1) 11 Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021) TTCAGAGCATACTGTGGATAA 0.343 19 33 --- --- --- --- SNX31 169166 broad.mit.edu 37 8 101612611 101612611 + Nonsense_Mutation SNP A A T TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr8:101612611A>T ENST00000311812.2 - 9 890 c.740T>A c.(739-741)tTa>tAa p.L247* SNX31_ENST00000428383.2_Nonsense_Mutation_p.L148* NM_152628.3 NP_689841.3 Q8N9S9 SNX31_HUMAN sorting nexin 31 247 cell communication|protein transport phosphatidylinositol binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1) 26 all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206) GAAAGCTTCTAATTTCTGCCT 0.363 17 103 --- --- --- --- KLHL38 340359 broad.mit.edu 37 8 124664821 124664821 + Missense_Mutation SNP A A G TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr8:124664821A>G ENST00000325995.7 - 1 369 c.346T>C c.(346-348)Ttc>Ctc p.F116L CTD-2552K11.2_ENST00000524355.1_RNA NM_001081675.2 NP_001075144.2 Q2WGJ6 KLH38_HUMAN kelch-like family member 38 116 breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1) 38 AGCTTGGGGAACTGTAGCATG 0.567 9 33 --- --- --- --- FAM154A 158297 broad.mit.edu 37 9 18941638 18941638 + Missense_Mutation SNP T T C TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr9:18941638T>C ENST00000380534.4 - 3 697 c.418A>G c.(418-420)Aaa>Gaa p.K140E FAM154A_ENST00000380530.1_Intron|FAM154A_ENST00000542071.1_Intron NM_153707.2 NP_714918.2 Q8IYX7 F154A_HUMAN family with sequence similarity 154, member A 140 breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1) 26 GBM - Glioblastoma multiforme(50;6.53e-16) CTCCCACCTTTATAAGTAGGC 0.493 8 30 --- --- --- --- TEK 7010 broad.mit.edu 37 9 27217729 27217729 + Missense_Mutation SNP A A G TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr9:27217729A>G ENST00000380036.4 + 19 3477 c.3035A>G c.(3034-3036)tAc>tGc p.Y1012C TEK_ENST00000406359.4_Missense_Mutation_p.Y969C|TEK_ENST00000519097.1_Missense_Mutation_p.Y864C NM_000459.3 NP_000450 Q02763 TIE2_HUMAN TEK tyrosine kinase, endothelial 1012 Protein kinase. angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3) 15 all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255) Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027) TCACTGAATTACAGTGTGTAC 0.438 16 31 --- --- --- --- FOXB2 442425 broad.mit.edu 37 9 79635159 79635159 + Missense_Mutation SNP C C G TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr9:79635159C>G ENST00000376708.1 + 1 589 c.589C>G c.(589-591)Cag>Gag p.Q197E NM_001013735.1 NP_001013757.1 Q5VYV0 FOXB2_HUMAN forkhead box B2 197 brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding breast(1)|lung(8)|ovary(1) 10 CCTCCCGTCACAGCCCCCGCA 0.761 14 26 --- --- --- --- MYO3A 53904 broad.mit.edu 37 10 26500819 26500819 + Missense_Mutation SNP C C G TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr10:26500819C>G ENST00000265944.5 + 35 4944 c.4778C>G c.(4777-4779)gCa>gGa p.A1593G MYO3A_ENST00000543632.1_Missense_Mutation_p.S608R NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 1593 protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 AGAGAGCCAGCAGCCAACCCC 0.652 10 24 --- --- --- --- DDX50 79009 broad.mit.edu 37 10 70673953 70673953 + Missense_Mutation SNP C C A TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr10:70673953C>A ENST00000373585.3 + 7 1189 c.1082C>A c.(1081-1083)aCt>aAt p.T361N NM_024045.1 NP_076950.1 Q9BQ39 DDX50_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 50 361 nucleolus ATP binding|ATP-dependent helicase activity|RNA binding breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 29 GCTGCAACTACTGTGGAAGTA 0.348 13 14 --- --- --- --- RP11-464F9.1 0 broad.mit.edu 37 10 75488174 75488174 + RNA SNP A A C TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr10:75488174A>C ENST00000399449.3 - 0 199 RP11-574K11.28_ENST00000580790.1_RNA|BMS1P4_ENST00000584747.1_RNA GCAGACTGAAATGCAAAAGCT 0.448 3 37 --- --- --- --- ANO3 63982 broad.mit.edu 37 11 26681858 26681858 + Missense_Mutation SNP T T C TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr11:26681858T>C ENST00000256737.3 + 27 3665 c.2813T>C c.(2812-2814)gTa>gCa p.V938A ANO3_ENST00000525139.1_Missense_Mutation_p.V922A|ANO3_ENST00000531568.1_Missense_Mutation_p.V792A|ANO3_ENST00000537978.1_Missense_Mutation_p.V922A NM_031418.2 NP_113606.2 Q9BYT9 ANO3_HUMAN anoctamin 3 938 chloride channel complex chloride channel activity breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 ATTCCAGACGTACCAAAGGGT 0.383 26 49 --- --- --- --- LRP4 4038 broad.mit.edu 37 11 46897058 46897058 + Missense_Mutation SNP T T G TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr11:46897058T>G ENST00000378623.1 - 27 4116 c.3874A>C c.(3874-3876)Aac>Cac p.N1292H NM_002334.3 NP_002325.2 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 4 1292 endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 70 Lung(87;0.159) CCTGGCAGGTTGGACCTCACG 0.597 15 30 --- --- --- --- SSRP1 6749 broad.mit.edu 37 11 57100120 57100120 + Missense_Mutation SNP G G T TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr11:57100120G>T ENST00000278412.2 - 6 1013 c.747C>A c.(745-747)gaC>gaA p.D249E NM_003146.2 NP_003137.1 Q08945 SSRP1_HUMAN structure specific recognition protein 1 249 DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|cytoplasm|nucleoplasm DNA binding|protein binding breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4) 23 TCTGGCGCTGGTCCTTGTGGG 0.488 11 18 --- --- --- --- SLC22A8 9376 broad.mit.edu 37 11 62760841 62760841 + Silent SNP C C A TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr11:62760841C>A ENST00000311438.8 - 9 1583 c.1584G>T c.(1582-1584)ggG>ggT p.G528G SLC22A8_ENST00000545207.1_Intron|SLC22A8_ENST00000336232.2_Intron|SLC22A8_ENST00000535878.1_Intron|SLC22A8_ENST00000430500.2_Intron Q8TCC7 S22A8_HUMAN solute carrier family 22 (organic anion transporter), member 8 58 response to toxin basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|organic anion transmembrane transporter activity endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 28 AAGCCCTGGGCCCAGACCTGC 0.592 14 19 --- --- --- --- KDM2A 22992 broad.mit.edu 37 11 67017956 67017956 + Missense_Mutation SNP C C A TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr11:67017956C>A ENST00000529006.2 + 17 2901 c.2455C>A c.(2455-2457)Ctg>Atg p.L819M KDM2A_ENST00000530342.1_Missense_Mutation_p.L380M|KDM2A_ENST00000308783.5_Missense_Mutation_p.L277M|KDM2A_ENST00000398645.2_Intron|KDM2A_ENST00000526258.1_3'UTR NM_012308.2 NP_036440.1 Q9Y2K7 KDM2A_HUMAN lysine (K)-specific demethylase 2A 819 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2) 36 TGTGCCCAAGCTGCAGGCCAT 0.622 12 52 --- --- --- --- ME3 10873 broad.mit.edu 37 11 86160951 86160951 + Missense_Mutation SNP A A T TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr11:86160951A>T ENST00000543262.1 - 10 1437 c.1111T>A c.(1111-1113)Tct>Act p.S371T ME3_ENST00000393324.3_Missense_Mutation_p.S371T|RP11-317J19.1_ENST00000524610.1_RNA|ME3_ENST00000359636.2_Missense_Mutation_p.S371T NM_001161586.1 NP_001155058.1 Q16798 MAON_HUMAN malic enzyme 3, NADP(+)-dependent, mitochondrial 371 aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process mitochondrial matrix malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1) 27 Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252) NADH(DB00157) AGCCCTTTAGAGTCCACCATC 0.527 26 62 --- --- --- --- FAT3 120114 broad.mit.edu 37 11 92086237 92086237 + Nonsense_Mutation SNP G G A TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr11:92086237G>A ENST00000298047.6 + 1 976 c.959G>A c.(958-960)tGg>tAg p.W320* FAT3_ENST00000409404.2_Nonsense_Mutation_p.W320*|FAT3_ENST00000525166.1_Nonsense_Mutation_p.W170*|FAT3_ENST00000541502.1_Nonsense_Mutation_p.W320* Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 320 Cadherin 3. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GAAGGAAAGTGGTTGAATGAG 0.448 TCGA Ovarian(4;0.039) 4 14 --- --- --- --- FOLR4 390243 broad.mit.edu 37 11 94039857 94039857 + Nonsense_Mutation SNP G G A TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr11:94039857G>A ENST00000440961.2 + 2 361 c.317G>A c.(316-318)tGg>tAg p.W106* NM_001199206.1 NP_001186135.1 A6ND01 FOLR4_HUMAN folate receptor 4, delta (putative) 106 extracellular region folic acid binding|receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 14 CTGGGGCCCTGGATCCAGCCA 0.537 13 29 --- --- --- --- ATM 472 broad.mit.edu 37 11 108214036 108214036 + Missense_Mutation SNP G G A TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr11:108214036G>A ENST00000278616.4 + 57 8741 c.8356G>A c.(8356-8358)Ggt>Agt p.G2786S ATM_ENST00000452508.2_Missense_Mutation_p.G2786S|C11orf65_ENST00000525729.1_Intron|C11orf65_ENST00000526725.1_Intron NM_000051.3 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated 2786 PI3K/PI4K. cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) CAATGAAGATGGTGCTCATAA 0.413 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 19 59 --- --- --- --- THYN1 29087 broad.mit.edu 37 11 134120183 134120183 + Missense_Mutation SNP C C T TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr11:134120183C>T ENST00000341541.3 - 3 738 c.277G>A c.(277-279)Gtt>Att p.V93I THYN1_ENST00000352327.5_Missense_Mutation_p.V93I|THYN1_ENST00000392594.3_Missense_Mutation_p.V93I|THYN1_ENST00000392595.2_Missense_Mutation_p.V93I NM_014174.2 NP_054893.1 Q9P016 THYN1_HUMAN thymocyte nuclear protein 1 93 nucleus endometrium(2)|kidney(1)|lung(3)|pancreas(1) 7 all_hematologic(175;0.127) all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;1.68e-10)|all cancers(11;1.95e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00148)|Lung(977;0.207) TAGTTACGAACACCATCCCAG 0.493 8 28 --- --- --- --- WNK1 65125 broad.mit.edu 37 12 863369 863369 + Missense_Mutation SNP G G A TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr12:863369G>A ENST00000537687.1 + 1 1281 c.638G>A c.(637-639)gGa>gAa p.G213E WNK1_ENST00000315939.6_Missense_Mutation_p.G213E|WNK1_ENST00000447667.2_Missense_Mutation_p.G213E|WNK1_ENST00000530271.2_Missense_Mutation_p.G213E|WNK1_ENST00000535572.1_Missense_Mutation_p.G213E NM_001184985.1|NM_213655.4 NP_001171914.1|NP_998820.3 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 213 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 104 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) AAGGCCGTGGGAATGTCTAAC 0.577 6 54 --- --- --- --- PZP 5858 broad.mit.edu 37 12 9317890 9317890 + Missense_Mutation SNP G G T TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr12:9317890G>T ENST00000261336.2 - 19 2360 c.2332C>A c.(2332-2334)Ctg>Atg p.L778M PZP_ENST00000381997.2_Missense_Mutation_p.L647M|PZP_ENST00000539983.1_5'UTR NM_002864.2 NP_002855.2 pregnancy-zone protein breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5) 102 TCTTCGGACAGGCAGAAGGCC 0.562 20 58 --- --- --- --- SLCO1B1 10599 broad.mit.edu 37 12 21392117 21392117 + Silent SNP T T C TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr12:21392117T>C ENST00000256958.2 + 15 2166 c.2070T>C c.(2068-2070)caT>caC p.H690H NM_006446.4 NP_006437.3 Q9Y6L6 SO1B1_HUMAN solute carrier organic anion transporter family, member 1B1 690 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|integral to plasma membrane|membrane fraction bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 70 Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175) GTGAAACACATTGTTAAGGGG 0.373 23 49 --- --- --- --- DNM1L 10059 broad.mit.edu 37 12 32886710 32886710 + Missense_Mutation SNP A A T TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr12:32886710A>T ENST00000452533.2 + 13 1672 c.1508A>T c.(1507-1509)gAt>gTt p.D503V DNM1L_ENST00000358214.5_Missense_Mutation_p.D516V|DNM1L_ENST00000547312.1_Missense_Mutation_p.D503V|DNM1L_ENST00000553257.1_Missense_Mutation_p.D516V|DNM1L_ENST00000266481.6_Missense_Mutation_p.D503V|YARS2_ENST00000551673.1_Intron|DNM1L_ENST00000549701.1_Missense_Mutation_p.D503V|DNM1L_ENST00000381000.4_Missense_Mutation_p.D516V|DNM1L_ENST00000414834.2_Missense_Mutation_p.D300V NM_012062.3|NM_012063.2 NP_036192.2|NP_036193.2 O00429 DNM1L_HUMAN dynamin 1-like 503 B domain.|Interaction with GSK3B. cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane GTP binding|GTPase activity|ubiquitin protein ligase binding cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 23 Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) GACTTTGCTGATGCTTGTGGG 0.308 13 91 --- --- --- --- UHRF1BP1L 23074 broad.mit.edu 37 12 100452198 100452198 + Missense_Mutation SNP T T A TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr12:100452198T>A ENST00000279907.7 - 14 3069 c.2857A>T c.(2857-2859)Agt>Tgt p.S953C UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.S603C NM_015054.1 NP_055869.1 A0JNW5 UH1BL_HUMAN UHRF1 binding protein 1-like 953 breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 50 TTTGTATCACTAGCTGATTTA 0.318 10 8 --- --- --- --- BRCA2 675 broad.mit.edu 37 13 32906456 32906456 + Missense_Mutation SNP G G C rs80359088 TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr13:32906456G>C ENST00000544455.1 + 10 1068 c.841G>C c.(841-843)Gac>Cac p.D281H BRCA2_ENST00000380152.3_Missense_Mutation_p.D281H NM_000059.3 NP_000050 P51587 BRCA2_HUMAN breast cancer 2, early onset 281 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) TAGCTGCAAAGACCACATTGG 0.289 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 12 12 --- --- --- --- TRPC4 7223 broad.mit.edu 37 13 38213401 38213401 + Silent SNP T T C TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr13:38213401T>C ENST00000379705.3 - 9 2972 c.2115A>G c.(2113-2115)caA>caG p.Q705Q TRPC4_ENST00000379673.2_Silent_p.Q640Q|TRPC4_ENST00000379681.3_Silent_p.Q710Q|TRPC4_ENST00000338947.5_Silent_p.Q532Q|TRPC4_ENST00000379679.1_Silent_p.Q532Q|TRPC4_ENST00000447043.1_Silent_p.Q705Q|TRPC4_ENST00000358477.2_Silent_p.Q705Q|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000355779.2_Silent_p.Q705Q Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, subfamily C, member 4 705 Binds to ITPR1, ITPR2 and ITPR3. 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) TTACTTGGTATTGGTGATGTC 0.338 22 52 --- --- --- --- TRAV18 28665 broad.mit.edu 37 14 22471727 22471727 + RNA SNP T T G TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr14:22471727T>G ENST00000390446.3 + 0 255 GCTATTCAACTTTTCTATTCT 0.493 22 25 --- --- --- --- RPS6KA5 9252 broad.mit.edu 37 14 91338504 91338504 + Missense_Mutation SNP T T A TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr14:91338504T>A ENST00000261991.3 - 17 2496 c.2323A>T c.(2323-2325)Aca>Tca p.T775S RPS6KA5_ENST00000536315.2_Missense_Mutation_p.T696S NM_004755.2 NP_004746.2 O75582 KS6A5_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 5 775 axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|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 cytoplasm|nucleoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 24 all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146) Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201) TTGGTGGGTGTAGTTTTACCG 0.502 28 31 --- --- --- --- CYFIP1 23191 broad.mit.edu 37 15 22929865 22929865 + Missense_Mutation SNP G G T TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr15:22929865G>T ENST00000313077.7 + 6 664 c.539G>T c.(538-540)aGt>aTt p.S180I CYFIP1_ENST00000560848.1_Missense_Mutation_p.S180I NM_014608.2 NP_055423.1 Q7L576 CYFP1_HUMAN cytoplasmic FMR1 interacting protein 1 180 axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome actin filament binding|Rac GTPase binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101) ATGAAGTGCAGTGTGAAGAAC 0.572 16 39 --- --- --- --- ZNF770 54989 broad.mit.edu 37 15 35275428 35275428 + Missense_Mutation SNP G G C TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr15:35275428G>C ENST00000356321.4 - 3 552 c.208C>G c.(208-210)Ctg>Gtg p.L70V NM_014106.3 NP_054825.2 Q6IQ21 ZN770_HUMAN zinc finger protein 770 70 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1) 29 Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09) all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643) TGCCTCTCCAGATGAACTAGT 0.363 6 21 --- --- --- --- UACA 55075 broad.mit.edu 37 15 70959286 70959286 + Missense_Mutation SNP T T A TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr15:70959286T>A ENST00000322954.6 - 16 3922 c.3737A>T c.(3736-3738)aAa>aTa p.K1246I UACA_ENST00000379983.2_Missense_Mutation_p.K1233I|UACA_ENST00000539319.1_Missense_Mutation_p.K1137I|UACA_ENST00000560441.1_Missense_Mutation_p.K1231I NM_018003.2 NP_060473.2 Q9BZF9 UACA_HUMAN uveal autoantigen with coiled-coil domains and ankyrin repeats 1246 cytoskeleton|extracellular region breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2) 50 ATTGGCCAATTTTTCATTTAA 0.328 23 36 --- --- --- --- GRIN2A 2903 broad.mit.edu 37 16 9934873 9934873 + Missense_Mutation SNP A A T TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr16:9934873A>T ENST00000396573.2 - 7 1726 c.1417T>A c.(1417-1419)Ttt>Att p.F473I GRIN2A_ENST00000535259.1_Missense_Mutation_p.F316I|GRIN2A_ENST00000404927.2_Missense_Mutation_p.F473I|GRIN2A_ENST00000396575.2_Missense_Mutation_p.F473I|GRIN2A_ENST00000330684.3_Missense_Mutation_p.F473I|GRIN2A_ENST00000562109.1_Missense_Mutation_p.F473I NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 473 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TCGTAAGTAAACTTCACAGTT 0.403 31 70 --- --- --- --- SRCAP 10847 broad.mit.edu 37 16 30749840 30749840 + Missense_Mutation SNP G G A TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr16:30749840G>A ENST00000262518.4 + 34 8864 c.8479G>A c.(8479-8481)Gct>Act p.A2827T SRCAP_ENST00000344771.4_Missense_Mutation_p.A2669T|SRCAP_ENST00000395059.2_Missense_Mutation_p.A2765T NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 2827 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) GCCCTTCATTGCTCGCCGTCA 0.632 22 22 --- --- --- --- SSH2 85464 broad.mit.edu 37 17 27999097 27999097 + Missense_Mutation SNP T T G TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr17:27999097T>G ENST00000269033.3 - 8 735 c.584A>C c.(583-585)aAc>aCc p.N195T SSH2_ENST00000540801.1_Missense_Mutation_p.N222T|RP11-68I3.2_ENST00000581474.1_RNA NM_001282129.1|NM_033389.2 NP_001269058.1|NP_203747.2 Q76I76 SSH2_HUMAN slingshot protein phosphatase 2 195 actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity SSH2/SUZ12(2) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TGGGTAGTAGTTATGCGCTCT 0.463 18 27 --- --- --- --- GAS2L2 246176 broad.mit.edu 37 17 34074193 34074193 + Missense_Mutation SNP C C T TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr17:34074193C>T ENST00000254466.6 - 5 954 c.927G>A c.(925-927)atG>atA p.M309I GAS2L2_ENST00000587565.1_Missense_Mutation_p.M293I NM_139285.3 NP_644814.1 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 309 cell cycle arrest cytoplasm|cytoskeleton central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) GGCTGATGGTCATTGTAGGCT 0.612 52 98 --- --- --- --- GRB7 2886 broad.mit.edu 37 17 37903005 37903005 + Splice_Site SNP G G A TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr17:37903005G>A ENST00000309156.4 + 15 1711 c.1454G>A c.(1453-1455)aGc>aAc p.S485N GRB7_ENST00000445327.2_Splice_Site_p.S508N|GRB7_ENST00000394204.1_3'UTR|GRB7_ENST00000394211.3_Splice_Site_p.S485N|GRB7_ENST00000394209.2_Splice_Site_p.S485N|GRB7_ENST00000309185.3_3'UTR NM_005310.3 NP_005301.2 Q14451 GRB7_HUMAN growth factor receptor-bound protein 7 485 SH2. blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly cytosol|focal adhesion|stress granule phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) GTACCCCAGAGCGAGGAGGAG 0.607 5 102 --- --- --- --- KANSL1 284058 broad.mit.edu 37 17 44128012 44128012 + Translation_Start_Site SNP C C T TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr17:44128012C>T ENST00000393476.3 - 0 2377 KANSL1_ENST00000432791.1_Missense_Mutation_p.C636Y|KANSL1_ENST00000575318.1_Missense_Mutation_p.C636Y|KANSL1_ENST00000572904.1_Missense_Mutation_p.C636Y|KANSL1_ENST00000574590.1_Missense_Mutation_p.C636Y|KANSL1_ENST00000262419.6_Missense_Mutation_p.C636Y Q7Z3B3 K1267_HUMAN KAT8 regulatory NSL complex subunit 1 MLL1 complex protein binding GCCTGAACCACACAGTGCGCA 0.493 4 19 --- --- --- --- ABCC3 8714 broad.mit.edu 37 17 48741195 48741195 + Silent SNP G G T TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr17:48741195G>T ENST00000285238.8 + 9 1232 c.1152G>T c.(1150-1152)ggG>ggT p.G384G ABCC3_ENST00000427699.1_Silent_p.G384G NM_003786.3 NP_003777.2 O15438 MRP3_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 3 384 ABC transmembrane type-1 1. bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) TTCGTACTGGGATCATGGGTG 0.557 18 33 --- --- --- --- APPBP2 10513 broad.mit.edu 37 17 58525052 58525052 + Nonsense_Mutation SNP G G A TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr17:58525052G>A ENST00000083182.3 - 13 1935 c.1648C>T c.(1648-1650)Caa>Taa p.Q550* NM_001282476.1|NM_006380.2 NP_001269405.1|NP_006371.2 Q92624 APBP2_HUMAN amyloid beta precursor protein (cytoplasmic tail) binding protein 2 550 intracellular protein transport cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus microtubule motor activity|protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1) 25 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01) ACTGAATATTGCCGATCTCGC 0.448 42 85 --- --- --- --- PSMC5 5705 broad.mit.edu 37 17 61908885 61908885 + Missense_Mutation SNP A A T TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr17:61908885A>T ENST00000310144.6 + 10 1297 c.989A>T c.(988-990)aAg>aTg p.K330M PSMC5_ENST00000580864.1_Missense_Mutation_p.K322M|PSMC5_ENST00000581882.1_Missense_Mutation_p.K322M|PSMC5_ENST00000375812.4_Missense_Mutation_p.K322M NM_002805.5 NP_002796.4 P62195 PRS8_HUMAN proteasome (prosome, macropain) 26S subunit, ATPase, 5 330 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of programmed cell death|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|transcription from RNA polymerase II promoter|viral reproduction cytoplasm|nucleus|proteasome complex ATP binding|ATPase activity|thyrotropin-releasing hormone receptor binding|transcription cofactor activity|transcription factor binding endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 20 GACATTTTGAAGATTCATTCT 0.542 30 65 --- --- --- --- BPTF 2186 broad.mit.edu 37 17 65940437 65940437 + Missense_Mutation SNP A A G TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr17:65940437A>G ENST00000321892.4 + 22 7088 c.7027A>G c.(7027-7029)Aca>Gca p.T2343A BPTF_ENST00000335221.5_Missense_Mutation_p.T2343A|BPTF_ENST00000577770.1_3'UTR|BPTF_ENST00000306378.6_Missense_Mutation_p.T2217A|BPTF_ENST00000424123.3_Missense_Mutation_p.T2204A Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 2343 Thr-rich. brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) ATTGGCAACAACAGCCACCAC 0.537 31 40 --- --- --- --- EMILIN2 84034 broad.mit.edu 37 18 2892339 2892339 + Missense_Mutation SNP G G C TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr18:2892339G>C ENST00000254528.3 + 4 2373 c.2214G>C c.(2212-2214)tgG>tgC p.W738C NM_032048.2 NP_114437.2 Q9BXX0 EMIL2_HUMAN elastin microfibril interfacer 2 738 cell adhesion collagen extracellular matrix constituent conferring elasticity|protein binding breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4) 48 READ - Rectum adenocarcinoma(2;0.1) GCAGCCTGTGGAACTGTGTCA 0.507 11 13 --- --- --- --- CEP76 79959 broad.mit.edu 37 18 12699203 12699203 + Splice_Site SNP C C A TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr18:12699203C>A ENST00000262127.2 - 4 521 c.e4-1 PSMG2_ENST00000585331.2_Intron|CEP76_ENST00000423709.2_Intron|CEP76_ENST00000586887.1_Intron NM_024899.2 NP_079175.2 Q8TAP6 CEP76_HUMAN centrosomal protein 76kDa G2/M transition of mitotic cell cycle|regulation of centriole replication centriole|cytosol protein binding endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 TCAATATTAGCTGTAAAGTGT 0.363 16 18 --- --- --- --- ADAMTS10 81794 broad.mit.edu 37 19 8670020 8670020 + Silent SNP C C A TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr19:8670020C>A ENST00000270328.4 - 3 578 c.312G>T c.(310-312)gtG>gtT p.V104V ADAMTS10_ENST00000597188.1_Silent_p.V104V|ADAMTS10_ENST00000596709.1_5'UTR Q9H324 ATS10_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 10 104 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1) 53 TCCAGTACTCCACGGAGACGT 0.687 5 27 --- --- --- --- EMR2 30817 broad.mit.edu 37 19 14887554 14887554 + Silent SNP G G C TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr19:14887554G>C ENST00000315576.3 - 2 466 c.15C>G c.(13-15)gtC>gtG p.V5V EMR2_ENST00000353876.1_Silent_p.V5V|EMR2_ENST00000594294.1_Silent_p.V5V|EMR2_ENST00000599423.1_5'UTR|EMR2_ENST00000346057.1_Silent_p.V5V|EMR2_ENST00000392967.2_Silent_p.V5V|EMR2_ENST00000594076.1_Silent_p.V5V|EMR2_ENST00000353005.1_Silent_p.V5V|EMR2_ENST00000392965.3_Silent_p.V5V|EMR2_ENST00000595839.1_Silent_p.V5V|EMR2_ENST00000596991.2_Silent_p.V5V|EMR2_ENST00000601345.1_Silent_p.V5V NM_013447.3 NP_038475.2 Q9UHX3 EMR2_HUMAN egf-like module containing, mucin-like, hormone receptor-like 2 5 cell adhesion|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 48 AGACGAGAAAGACGCGGCCTC 0.652 4 13 --- --- --- --- CHERP 10523 broad.mit.edu 37 19 16630018 16630018 + Missense_Mutation SNP C C G TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr19:16630018C>G ENST00000546361.2 - 17 2854 c.2703G>C c.(2701-2703)aaG>aaC p.K901N CTD-3222D19.2_ENST00000409035.1_3'UTR|C19orf44_ENST00000221671.3_Intron|CHERP_ENST00000544299.1_5'UTR|CHERP_ENST00000198939.6_Missense_Mutation_p.K912N NM_006387.5 NP_006378.3 Q8IWX8 CHERP_HUMAN calcium homeostasis endoplasmic reticulum protein 901 cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing endoplasmic reticulum|perinuclear region of cytoplasm RNA binding endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3) 24 AGGAGTAGCTCTTGTTCCTGC 0.642 17 21 --- --- --- --- ABHD8 79575 broad.mit.edu 37 19 17405251 17405251 + Missense_Mutation SNP T T G TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr19:17405251T>G ENST00000247706.3 - 4 1234 c.995A>C c.(994-996)aAc>aCc p.N332T MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000600434.1_Intron NM_024527.4 NP_078803.4 Q96I13 ABHD8_HUMAN abhydrolase domain containing 8 332 hydrolase activity central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1) 9 GGATGACACGTTGAAAGCGTT 0.642 38 85 --- --- --- --- COMP 1311 broad.mit.edu 37 19 18897449 18897449 + Missense_Mutation SNP G G C TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr19:18897449G>C ENST00000542601.2 - 10 1437 c.1048C>G c.(1048-1050)Cag>Gag p.Q350E COMP_ENST00000425807.1_Missense_Mutation_p.Q330E|COMP_ENST00000222271.2_Missense_Mutation_p.Q383E P49747 COMP_HUMAN cartilage oligomeric matrix protein 383 anti-apoptosis|apoptosis|cell adhesion|limb development extracellular space|proteinaceous extracellular matrix calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 TTGTCGGCCTGGTTGCGGATC 0.577 17 26 --- --- --- --- CCDC9 26093 broad.mit.edu 37 19 47773663 47773663 + Splice_Site SNP G G A TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr19:47773663G>A ENST00000221922.6 + 9 1124 c.e9-1 NM_015603.2 NP_056418.1 Q9Y3X0 CCDC9_HUMAN coiled-coil domain containing 9 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1) 12 all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114) OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183) CTTTCCCCCAGGTTCAAGGAT 0.592 8 24 --- --- --- --- TEAD2 8463 broad.mit.edu 37 19 49858558 49858558 + Splice_Site SNP A A G TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr19:49858558A>G ENST00000377214.4 - 4 840 c.e4+1 TEAD2_ENST00000598810.1_Intron|TEAD2_ENST00000311227.2_Intron|TEAD2_ENST00000539846.1_Splice_Site|TEAD2_ENST00000598397.1_Splice_Site|TEAD2_ENST00000593945.1_Intron|TEAD2_ENST00000601519.1_Splice_Site Q15562 TEAD2_HUMAN TEA domain family member 2 hippo signaling cascade DNA binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1) 29 all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467) ACAATCCCCAACCTGGACCAC 0.587 15 43 --- --- --- --- PRMT1 3276 broad.mit.edu 37 19 50187286 50187286 + Missense_Mutation SNP C C G TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr19:50187286C>G ENST00000532489.1 + 6 883 c.377C>G c.(376-378)tCc>tGc p.S126C PRMT1_ENST00000391851.4_Missense_Mutation_p.S154C|PRMT1_ENST00000454376.2_Missense_Mutation_p.S172C Q8WUW5 Q8WUW5_HUMAN protein arginine methyltransferase 1 153 cytoplasm protein methyltransferase activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(2) 12 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012) TTCTACGAGTCCATGCTCAAC 0.607 4 74 --- --- --- --- SIGLEC9 27180 broad.mit.edu 37 19 51628471 51628471 + Silent SNP T T G TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr19:51628471T>G ENST00000440804.3 + 1 307 c.240T>G c.(238-240)gcT>gcG p.A80A SIGLEC9_ENST00000250360.3_Silent_p.A80A NM_001198558.1 NP_001185487.1 Q9Y336 SIGL9_HUMAN sialic acid binding Ig-like lectin 9 80 Ig-like V-type. cell adhesion|cell surface receptor linked signaling pathway integral to plasma membrane sugar binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 45 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295) ACAACCCAGCTCGGGCAGTGT 0.572 28 72 --- --- --- --- ZFP28 140612 broad.mit.edu 37 19 57065052 57065052 + Splice_Site SNP G G C TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr19:57065052G>C ENST00000301318.3 + 8 969 c.e8-1 AC007228.11_ENST00000596587.1_RNA NM_020828.1 NP_065879.1 Q8NHY6 ZFP28_HUMAN ZFP28 zinc finger protein regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 35 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0302) GTATCTTTCAGGCCAGCGATC 0.373 14 35 --- --- --- --- FASTKD5 60493 broad.mit.edu 37 20 3128064 3128064 + Silent SNP C C T TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr20:3128064C>T ENST00000380266.3 - 2 1974 c.1653G>A c.(1651-1653)aaG>aaA p.K551K UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000217173.2_Intron|UBOX5_ENST00000348031.2_Intron NM_021826.4 NP_068598.1 Q7L8L6 FAKD5_HUMAN FAST kinase domains 5 551 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2) 19 AATTCATATCCTTCTCTGCTA 0.448 10 35 --- --- --- --- ZSWIM3 140831 broad.mit.edu 37 20 44506572 44506572 + Missense_Mutation SNP A A T TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr20:44506572A>T ENST00000255152.2 + 2 1584 c.1375A>T c.(1375-1377)Atc>Ttc p.I459F ZSWIM3_ENST00000454862.2_Missense_Mutation_p.I453F NM_080752.3 NP_542790.2 Q96MP5 ZSWM3_HUMAN zinc finger, SWIM-type containing 3 459 zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 35 Myeloproliferative disorder(115;0.0122) GGCTTTTGGAATCTGTGGAGA 0.542 14 21 --- --- --- --- DIDO1 11083 broad.mit.edu 37 20 61513601 61513601 + Missense_Mutation SNP T T C TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr20:61513601T>C ENST00000266070.4 - 16 4032 c.3707A>G c.(3706-3708)cAg>cGg p.Q1236R DIDO1_ENST00000395343.1_Missense_Mutation_p.Q1236R NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 1236 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) CTTTTCCGACTGCGGGACTGT 0.592 44 110 --- --- --- --- ZBTB46 140685 broad.mit.edu 37 20 62384051 62384051 + Silent SNP C C T TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr20:62384051C>T ENST00000245663.4 - 4 1536 c.1386G>A c.(1384-1386)aaG>aaA p.K462K ZBTB46_ENST00000302995.2_Silent_p.K462K|ZBTB46_ENST00000395104.1_Silent_p.K462K NM_025224.3 NP_079500.2 Q86UZ6 ZBT46_HUMAN zinc finger and BTB domain containing 46 462 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 24 all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09) GCGTGTGGCGCTTCATGTGCT 0.701 7 10 --- --- --- --- KRTAP27-1 643812 broad.mit.edu 37 21 31710000 31710000 + Translation_Start_Site SNP C C A TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr21:31710000C>A ENST00000382835.2 - 0 12 NM_001077711.1 NP_001071179.1 Q3LI81 KR271_HUMAN keratin associated protein 27-1 intermediate filament endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1) 18 GCTAAAAATCCTTAAAGATGG 0.438 12 20 --- --- --- --- PCP4 5121 broad.mit.edu 37 21 41301036 41301036 + Nonstop_Mutation SNP G G C TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr21:41301036G>C ENST00000328619.5 + 3 374 c.189G>C c.(187-189)taG>taC p.*63Y PCP4_ENST00000468717.1_3'UTR NM_006198.2 NP_006189.2 P48539 PCP4_HUMAN Purkinje cell protein 4 0 central nervous system development cytosol|nucleus large_intestine(2)|lung(1)|skin(1) 4 Prostate(19;2.65e-06)|all_epithelial(19;0.138) CTCAGTCCTAGTGGGAGAACC 0.468 7 27 --- --- --- --- KRTAP10-4 386672 broad.mit.edu 37 21 45994012 45994012 + Missense_Mutation SNP T T G TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr21:45994012T>G ENST00000400374.3 + 1 407 c.377T>G c.(376-378)gTg>gGg p.V126G TSPEAR_ENST00000323084.4_Intron NM_198687.1 NP_941960.1 P60372 KR104_HUMAN keratin associated protein 10-4 126 36 X 5 AA repeats of C-C-X(3). keratin filament NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1) 18 GTGTGCTGTGTGCCCGTCTGC 0.642 34 252 --- --- --- --- MRPL40 64976 broad.mit.edu 37 22 19423224 19423224 + Missense_Mutation SNP G G T TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr22:19423224G>T ENST00000333130.3 + 4 1013 c.360G>T c.(358-360)aaG>aaT p.K120N MRPL40_ENST00000443660.1_3'UTR|HIRA_ENST00000541063.1_Intron|HIRA_ENST00000546308.1_Intron NM_003776.2 NP_003767.2 Q9NQ50 RM40_HUMAN mitochondrial ribosomal protein L40 120 anatomical structure morphogenesis mitochondrial ribosome|nucleus endometrium(1)|upper_aerodigestive_tract(1) 2 Colorectal(54;0.0993) TTCTGAAGAAGTGGTCCTTGT 0.527 59 114 --- --- --- --- TRIOBP 11078 broad.mit.edu 37 22 38121937 38121937 + Missense_Mutation SNP C C T TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr22:38121937C>T ENST00000406386.3 + 7 3629 c.3374C>T c.(3373-3375)cCa>cTa p.P1125L NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 1125 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) GCCTCCTCCCCACCACGCCAG 0.637 6 138 --- --- --- --- KAL1 3730 broad.mit.edu 37 X 8553409 8553409 + Missense_Mutation SNP T T C TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chrX:8553409T>C ENST00000262648.3 - 6 904 c.755A>G c.(754-756)gAc>gGc p.D252G NM_000216.2 NP_000207.2 P23352 KALM_HUMAN Kallmann syndrome 1 sequence 252 Fibronectin type-III 1. axon guidance|cell adhesion|cellular component movement extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1) 32 GGGTCTTATGTCAGTCAGTTG 0.498 38 7 --- --- --- --- BCORL1 63035 broad.mit.edu 37 X 129146576 129146576 + Missense_Mutation SNP G G C TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chrX:129146576G>C ENST00000540052.1 + 2 153 c.109G>C c.(109-111)Gag>Cag p.E37Q BCORL1_ENST00000359304.2_Missense_Mutation_p.E37Q|BCORL1_ENST00000303743.5_Missense_Mutation_p.E37Q|BCORL1_ENST00000218147.7_Missense_Mutation_p.E37Q NM_021946.4 NP_068765 Q5H9F3 BCORL_HUMAN BCL6 corepressor-like 1 37 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 75 TTCTGATGAGGAGTCAACGAC 0.517 28 23 --- --- --- --- BCORL1 63035 broad.mit.edu 37 X 129147472 129147472 + Missense_Mutation SNP G G C TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chrX:129147472G>C ENST00000540052.1 + 3 768 c.724G>C c.(724-726)Gcc>Ccc p.A242P BCORL1_ENST00000359304.2_Missense_Mutation_p.A242P|BCORL1_ENST00000303743.5_Missense_Mutation_p.A242P|BCORL1_ENST00000218147.7_Missense_Mutation_p.A242P NM_021946.4 NP_068765 Q5H9F3 BCORL_HUMAN BCL6 corepressor-like 1 242 Pro-rich. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 75 AGTCCAAGTTGCCACTTCGGT 0.632 52 42 --- --- --- --- SAGE1 55511 broad.mit.edu 37 X 134990668 134990668 + Silent SNP A A C TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chrX:134990668A>C ENST00000535938.1 + 12 1500 c.1333A>C c.(1333-1335)Agg>Cgg p.R445R SAGE1_ENST00000537770.1_Intron|SAGE1_ENST00000370709.3_Silent_p.R445R|SAGE1_ENST00000324447.3_Silent_p.R445R NM_018666.2 NP_061136.2 Q9NXZ1 SAGE1_HUMAN sarcoma antigen 1 445 breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 Acute lymphoblastic leukemia(192;0.000127) CCATGAAGCAAGGATGGAAAA 0.423 32 19 --- --- --- --- ZDHHC14 79683 broad.mit.edu 37 6 157803172 157803172 + Frame_Shift_Del DEL G G - TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr6:157803172delG ENST00000359775.5 + 1 1008 c.119delG c.(118-120)tggfs p.W40fs ZDHHC14_ENST00000414563.2_Frame_Shift_Del_p.W40fs Q8IZN3 ZDH14_HUMAN zinc finger, DHHC-type containing 14 40 integral to membrane acyltransferase activity|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1) 17 Breast(66;0.00586)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05) CGGAGGAAATGGGAGGTGTTC 0.587 7 12 --- --- --- --- SYPL1 6856 broad.mit.edu 37 7 105739618 105739619 + Frame_Shift_Ins INS - - T TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr7:105739618_105739619insT ENST00000455385.2 - 2 301_302 c.179_180insA c.(178-180)tttfs p.F60fs SYPL1_ENST00000470347.1_Frame_Shift_Ins_p.F60fs|SYPL1_ENST00000011473.2_Frame_Shift_Ins_p.F78fs NM_182715.2 NP_874384.1 Q16563 SYPL1_HUMAN synaptophysin-like 1 78 MARVEL. synaptic transmission cytoplasmic vesicle membrane|integral to plasma membrane|melanosome|synaptic vesicle transporter activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1) 7 ATGGATAACCAAAAGTAGCTGT 0.351 13 82 --- --- --- --- RBMS2 5939 broad.mit.edu 37 12 56915827 56915827 + Frame_Shift_Del DEL C C - TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10b99436-73aa-47f1-b44c-d6f893e133dc 1ed46a80-9603-434b-a495-3b5698dd9be9 g.chr12:56915827delC ENST00000262031.5 + 1 115 c.20delC c.(19-21)tccfs p.S7fs RBMS2_ENST00000552247.2_Frame_Shift_Del_p.S7fs|RBMS2_ENST00000549945.1_3'UTR|RBMS2_ENST00000550726.1_5'UTR|RBMS2_ENST00000542360.1_5'UTR NM_002898.3 NP_002889.1 Q15434 RBMS2_HUMAN RNA binding motif, single stranded interacting protein 2 7 RNA processing nucleus nucleotide binding|RNA binding breast(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(3)|skin(2)|urinary_tract(1) 18 TCCGTGACTTCCAGGCCCGGG 0.478 28 56 --- --- --- ---