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 CCNL2 81669 broad.mit.edu 37 1 1325908 1325908 + Missense_Mutation SNP C C G TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr1:1325908C>G ENST00000400809.3 - 7 800 c.795G>C c.(793-795)ttG>ttC p.L265F CCNL2_ENST00000408952.5_Missense_Mutation_p.L43F|CCNL2_ENST00000505849.1_5'UTR NM_030937.4 NP_112199.2 Q96S94 CCNL2_HUMAN cyclin L2 265 Cyclin-like 2. regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent nuclear speck protein kinase binding central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2) 13 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146) TTGCTCCAAACAAAAGAAACC 0.408 23 78 --- --- --- --- ENO1 2023 broad.mit.edu 37 1 8926490 8926490 + Missense_Mutation SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr1:8926490G>T ENST00000234590.4 - 7 634 c.515C>A c.(514-516)cCa>cAa p.P172Q NM_001428.3 NP_001419.1 P06733 ENOA_HUMAN enolase 1, (alpha) 172 Required for repression of c-myc promoter activity. gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus phosphopyruvate hydratase complex|plasma membrane|sarcomere DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 10 Ovarian(185;0.0661)|all_lung(157;0.127) all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642) TGCACCGACTGGGAGGATCAT 0.522 6 167 --- --- --- --- MTOR 2475 broad.mit.edu 37 1 11294298 11294298 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr1:11294298C>A ENST00000361445.4 - 14 2309 c.2233G>T c.(2233-2235)Ggg>Tgg p.G745W NM_004958.3 NP_004949.1 P42345 MTOR_HUMAN mechanistic target of rapamycin (serine/threonine kinase) 745 cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 149 CTTCCAATCCCACTGTGCTCC 0.502 6 215 --- --- --- --- CLCN6 1185 broad.mit.edu 37 1 11889286 11889286 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr1:11889286C>A ENST00000312413.6 + 12 1101 c.988C>A c.(988-990)Cac>Aac p.H330N CLCN6_ENST00000376496.3_Silent_p.T385T|CLCN6_ENST00000376492.3_3'UTR|CLCN6_ENST00000376487.3_Silent_p.T363T|CLCN6_ENST00000346436.6_Silent_p.T385T P51797 CLCN6_HUMAN chloride channel, voltage-sensitive 6 0 cell volume homeostasis|signal transduction endosome membrane|integral to membrane antiporter activity|ATP binding|voltage-gated chloride channel activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4) 36 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) CTCTGGTAACCACCGTGGTGG 0.493 7 192 --- --- --- --- NPPB 4879 broad.mit.edu 37 1 11918865 11918865 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr1:11918865C>A ENST00000376468.3 - 1 123 c.26G>T c.(25-27)cGg>cTg p.R9L NM_002521.2 NP_002512.1 P16860 ANFB_HUMAN natriuretic peptide B 9 body fluid secretion|cGMP biosynthetic process|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation extracellular space diuretic hormone activity haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1) 11 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) Carvedilol(DB01136)|Nesiritide(DB04899)|Testosterone(DB00624) CAGGAGCGCCCGGGAAGGTGC 0.652 4 99 --- --- --- --- VPS13D 55187 broad.mit.edu 37 1 12567061 12567061 + Missense_Mutation SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr1:12567061G>T ENST00000358136.3 + 69 13079 c.12949G>T c.(12949-12951)Ggg>Tgg p.G4317W VPS13D_ENST00000543766.1_Missense_Mutation_p.G315W|VPS13D_ENST00000543710.1_Missense_Mutation_p.G121W|VPS13D_ENST00000471923.1_5'UTR|VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000356315.4_Missense_Mutation_p.G4292W NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 4316 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) CAAAGACCATGGGAAGGTGTA 0.532 6 141 --- --- --- --- PADI3 51702 broad.mit.edu 37 1 17586228 17586228 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr1:17586228C>A ENST00000375460.3 + 2 288 c.248C>A c.(247-249)cCc>cAc p.P83H NM_016233.2 NP_057317.2 Q9ULW8 PADI3_HUMAN peptidyl arginine deiminase, type III 83 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) ATGAACTCCCCCAGCAATGAC 0.597 5 54 --- --- --- --- UBR4 23352 broad.mit.edu 37 1 19477100 19477100 + Silent SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr1:19477100G>T ENST00000375267.2 - 49 7404 c.7401C>A c.(7399-7401)ccC>ccA p.P2467P UBR4_ENST00000375217.2_Silent_p.P2467P|UBR4_ENST00000375226.2_Silent_p.P2467P|UBR4_ENST00000375254.3_Silent_p.P2467P Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 2467 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) TGGTCGTAGTGGGGGCAGCTG 0.532 8 156 --- --- --- --- ALPL 249 broad.mit.edu 37 1 21889689 21889689 + Silent SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr1:21889689G>T ENST00000374840.3 + 5 634 c.384G>T c.(382-384)gtG>gtT p.V128V ALPL_ENST00000374832.1_Silent_p.V128V|ALPL_ENST00000539907.1_Silent_p.V51V|ALPL_ENST00000540617.1_Silent_p.V73V|ALPL_ENST00000425315.2_Silent_p.V128V|ALPL_ENST00000468526.1_3'UTR NM_000478.4 NP_000469.3 P05186 PPBT_HUMAN alkaline phosphatase, liver/bone/kidney 128 V -> M (in HOPS). response to vitamin D|skeletal system development anchored to membrane|cytoplasm|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 26 all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146) Amifostine(DB01143) AGGGCACCGTGGGGGTAAGCG 0.662 5 85 --- --- --- --- RPL11 6135 broad.mit.edu 37 1 24019135 24019135 + Missense_Mutation SNP C C T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr1:24019135C>T ENST00000374550.3 + 2 88 c.43C>T c.(43-45)Ctt>Ttt p.L15F RPL11_ENST00000482370.1_3'UTR NM_000975.3|NM_001199802.1 NP_000966.2|NP_001186731.1 P62913 RL11_HUMAN ribosomal protein L11 15 endocrine pancreas development|protein localization to nucleus|protein targeting|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleolus protein binding|rRNA binding|structural constituent of ribosome central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2) 6 Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185) CATGCGGGAACTTCGCATCCG 0.547 8 145 --- --- --- --- ZNF593 51042 broad.mit.edu 37 1 26496949 26496949 + Silent SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr1:26496949C>A ENST00000270812.5 + 2 283 c.241C>A c.(241-243)Cga>Aga p.R81R RP11-96L14.7_ENST00000433939.1_RNA|RP11-96L14.7_ENST00000414762.1_RNA|ZNF593_ENST00000374266.5_Silent_p.R81R|RP11-96L14.7_ENST00000407889.2_RNA|RP11-96L14.7_ENST00000444682.1_RNA O00488 ZN593_HUMAN zinc finger protein 593 81 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleolus DNA binding|transcription corepressor activity|zinc ion binding p.R81*(1) large_intestine(4)|prostate(1) 5 Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649) GACCCACTTCCGATCCAAAGA 0.507 6 238 --- --- --- --- CATSPER4 378807 broad.mit.edu 37 1 26524858 26524858 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr1:26524858C>A ENST00000456354.2 + 6 827 c.760C>A c.(760-762)Ctc>Atc p.L254I NM_198137.1 NP_937770.1 Q7RTX7 CTSR4_HUMAN cation channel, sperm associated 4 254 cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane calcium channel activity|voltage-gated ion channel activity NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2) 27 all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649) GCTGTACACCCTCTTCATCTG 0.527 7 199 --- --- --- --- FCN3 8547 broad.mit.edu 37 1 27699642 27699642 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr1:27699642C>A ENST00000270879.4 - 5 383 c.378G>T c.(376-378)gaG>gaT p.E126D FCN3_ENST00000354982.2_Missense_Mutation_p.E115D NM_003665.2 NP_003656.2 O75636 FCN3_HUMAN ficolin (collagen/fibrinogen domain containing) 3 126 Fibrinogen C-terminal. complement activation, lectin pathway|signal transduction collagen|extracellular space receptor binding|sugar binding endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1) 7 all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) AGCCGCCCCCCTCGGTGTCCA 0.647 6 94 --- --- --- --- MACF1 23499 broad.mit.edu 37 1 39747939 39747939 + Silent SNP C C T rs143261539 TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr1:39747939C>T ENST00000564288.1 + 7 1365 c.588C>T c.(586-588)ctC>ctT p.L196L MACF1_ENST00000361689.2_Silent_p.L201L|MACF1_ENST00000539005.1_Silent_p.L201L|MACF1_ENST00000545844.1_Silent_p.L201L|MACF1_ENST00000317713.7_Silent_p.L201L|MACF1_ENST00000536367.1_Silent_p.L164L|MACF1_ENST00000567887.1_Silent_p.L233L|MACF1_ENST00000372915.3_Silent_p.L201L Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 201 Actin-binding.|CH 2. cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) AGAAACTACTCCTGTGGACCC 0.438 7 92 --- --- --- --- CDC20 991 broad.mit.edu 37 1 43825890 43825890 + Missense_Mutation SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr1:43825890G>T ENST00000372462.1 + 5 786 c.583G>T c.(583-585)Ggg>Tgg p.G195W CDC20_ENST00000310955.6_Missense_Mutation_p.G195W|CDC20_ENST00000478882.1_3'UTR Q12834 CDC20_HUMAN cell division cycle 20 195 activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle cytosol|nucleoplasm|spindle enzyme binding|protein C-terminus binding endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1) 15 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) TTGGAGTTCTGGGAATGTACT 0.532 6 149 --- --- --- --- KLF17 128209 broad.mit.edu 37 1 44595197 44595197 + Missense_Mutation SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr1:44595197G>T ENST00000372299.3 + 2 312 c.254G>T c.(253-255)gGg>gTg p.G85V KLF17_ENST00000476802.1_3'UTR NM_173484.3 NP_775755.3 Q5JT82 KLF17_HUMAN Kruppel-like factor 17 85 regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1) 18 Acute lymphoblastic leukemia(166;0.155) GTGAATGAAGGGGGGCCACAG 0.557 6 102 --- --- --- --- PLK3 1263 broad.mit.edu 37 1 45271171 45271171 + Missense_Mutation SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr1:45271171G>T ENST00000372201.4 + 15 2001 c.1762G>T c.(1762-1764)Ggg>Tgg p.G588W PLK3_ENST00000465443.1_3'UTR NM_004073.2 NP_004064.2 Q9H4B4 PLK3_HUMAN polo-like kinase 3 588 POLO box 2. membrane ATP binding|protein binding|protein serine/threonine kinase activity endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Acute lymphoblastic leukemia(166;0.155) GAACTTCTACGGGGACCACAC 0.597 6 268 --- --- --- --- EPS15 2060 broad.mit.edu 37 1 51869093 51869093 + Nonsense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr1:51869093C>A ENST00000371733.3 - 17 1885 c.1789G>T c.(1789-1791)Gag>Tag p.E597* EPS15_ENST00000396122.4_Nonsense_Mutation_p.E274*|EPS15_ENST00000371730.2_Nonsense_Mutation_p.E463* NM_001981.2 NP_001972.1 P42566 EPS15_HUMAN epidermal growth factor receptor pathway substrate 15 597 cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport cytosol|early endosome membrane calcium ion binding|SH3 domain binding p.0?(2) endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2) 35 TTTTTTACCTCTTTTGAATGT 0.363 T MLL ALL 5 68 --- --- --- --- PODN 127435 broad.mit.edu 37 1 53540284 53540284 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr1:53540284C>A ENST00000371500.3 + 6 841 c.500C>A c.(499-501)cCa>cAa p.P167Q PODN_ENST00000395871.2_Intron|PODN_ENST00000312553.5_Missense_Mutation_p.P186Q|RP11-334A14.5_ENST00000447867.1_RNA NM_001199080.1 NP_001186009.1 Q7Z5L7 PODN_HUMAN podocan 138 negative regulation of cell migration|negative regulation of cell proliferation cytoplasm|extracellular space|proteinaceous extracellular matrix collagen binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 GAAGGGCTCCCAGAGAAGGCG 0.612 7 229 --- --- --- --- DIO1 1733 broad.mit.edu 37 1 54360027 54360027 + Splice_Site SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr1:54360027G>T ENST00000525202.1 + 1 144 c.144G>T c.(142-144)acG>acT p.T48T DIO1_ENST00000534069.1_3'UTR|DIO1_ENST00000532493.1_Silent_p.T48T|DIO1_ENST00000388876.3_Silent_p.T48T|DIO1_ENST00000524406.1_Intron|DIO1_ENST00000322679.6_Silent_p.T48T|DIO1_ENST00000361921.3_Silent_p.T48T P49895 IOD1_HUMAN deiodinase, iodothyronine, type I 48 hormone biosynthetic process|thyroid hormone generation endoplasmic reticulum membrane|integral to membrane|plasma membrane selenium binding|thyroxine 5'-deiodinase activity cervix(1)|endometrium(2)|large_intestine(3)|lung(2)|skin(1) 9 GCGAGAAGACGGGTATGACCA 0.527 5 150 --- --- --- --- ABCA4 24 broad.mit.edu 37 1 94502297 94502297 + Splice_Site SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr1:94502297C>A ENST00000370225.3 - 26 3947 c.3861G>T c.(3859-3861)gcG>gcT p.A1287A NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 1287 phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances p.A1287A(1) NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) GCACCATACCCGCAAACAGAG 0.468 5 185 --- --- --- --- SLC16A4 9122 broad.mit.edu 37 1 110931935 110931935 + Translation_Start_Site SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr1:110931935C>A ENST00000541986.1 - 0 226 SLC16A4_ENST00000369781.4_Missense_Mutation_p.R4M|SLC16A4_ENST00000497687.1_5'UTR|LAMTOR5-AS1_ENST00000590413.1_RNA|SLC16A4_ENST00000437429.2_De_novo_Start_OutOfFrame|SLC16A4_ENST00000472422.2_Missense_Mutation_p.R4M|SLC16A4_ENST00000369779.4_Missense_Mutation_p.R4M O15374 MOT5_HUMAN solute carrier family 16, member 4 integral to plasma membrane|membrane fraction monocarboxylic acid transmembrane transporter activity|symporter activity breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2) 16 all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043) Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14) Pyruvic acid(DB00119) CTTCCCCTCCCTCTTCAGCAT 0.403 6 104 --- --- --- --- KCNA3 3738 broad.mit.edu 37 1 111217125 111217125 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr1:111217125C>A ENST00000369769.2 - 1 530 c.307G>T c.(307-309)Ggg>Tgg p.G103W NM_002232.3 NP_002223.3 P22001 KCNA3_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 3 103 voltage-gated potassium channel complex delayed rectifier potassium channel activity endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1) 38 all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133) ACGCGCTCCCCGCAGCAGTCC 0.731 4 46 --- --- --- --- HIST2H2BF 440689 broad.mit.edu 37 1 149783602 149783602 + Missense_Mutation SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr1:149783602G>T ENST00000427880.2 - 1 323 c.277C>A c.(277-279)Cgc>Agc p.R93S HIST2H2BF_ENST00000545683.1_Missense_Mutation_p.R93S|HIST2H2BF_ENST00000369167.1_Missense_Mutation_p.R93S|HIST2H2BF_ENST00000469483.1_5'UTR Q5QNW6 H2B2F_HUMAN histone cluster 2, H2bf 93 nucleosome assembly nucleosome|nucleus DNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Breast(34;0.0124)|all_hematologic(923;0.127) TGGATCTCGCGGGATGTGATG 0.647 4 74 --- --- --- --- HIST2H2BF 440689 broad.mit.edu 37 1 149783762 149783762 + Silent SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr1:149783762G>T ENST00000427880.2 - 1 163 c.117C>A c.(115-117)tcC>tcA p.S39S HIST2H2BF_ENST00000545683.1_Silent_p.S39S|HIST2H2BF_ENST00000369167.1_Silent_p.S39S|HIST2H2BF_ENST00000469483.1_5'UTR Q5QNW6 H2B2F_HUMAN histone cluster 2, H2bf 39 nucleosome assembly nucleosome|nucleus DNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Breast(34;0.0124)|all_hematologic(923;0.127) ACACGTAAACGGAGTAGCTCT 0.562 7 303 --- --- --- --- C1orf56 54964 broad.mit.edu 37 1 151020889 151020889 + Nonsense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr1:151020889C>A ENST00000368926.5 + 1 674 c.566C>A c.(565-567)tCa>tAa p.S189* NM_017860.3 NP_060330.2 Q9BUN1 CA056_HUMAN chromosome 1 open reading frame 56 189 extracellular region endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1) 7 Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) CCGTCACCCTCACCCACAGCC 0.697 OREG0013793 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 85 --- --- --- --- TDRKH 11022 broad.mit.edu 37 1 151752577 151752577 + Nonsense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr1:151752577C>A ENST00000368822.1 - 4 904 c.271G>T c.(271-273)Gag>Tag p.E91* TDRKH_ENST00000458431.2_Nonsense_Mutation_p.E91*|TDRKH_ENST00000368827.6_Nonsense_Mutation_p.E91*|TDRKH_ENST00000368823.1_Nonsense_Mutation_p.E87*|TDRKH_ENST00000484421.1_5'UTR|TDRKH_ENST00000368825.3_Nonsense_Mutation_p.E91*|TDRKH_ENST00000440583.2_5'UTR|TDRKH_ENST00000368824.3_Nonsense_Mutation_p.E91* Q9Y2W6 TDRKH_HUMAN tudor and KH domain containing 91 KH 1. RNA binding breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) CCTACATCCTCTGTGTCCACA 0.507 7 130 --- --- --- --- FLG 2312 broad.mit.edu 37 1 152287816 152287816 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr1:152287816C>A ENST00000368799.1 - 2 152 c.117G>T c.(115-117)aaG>aaT p.K39N FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 39 EF-hand 1. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity p.K39N(1) autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GCCGAAATTCCTTTTCCAGAA 0.328 Ichthyosis 7 184 --- --- --- --- SLC27A3 11000 broad.mit.edu 37 1 153748239 153748239 + Missense_Mutation SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr1:153748239G>T ENST00000271857.2 + 1 1410 c.650G>T c.(649-651)cGg>cTg p.R217L SLC27A3_ENST00000368661.3_Missense_Mutation_p.R136L|SLC27A3_ENST00000484014.1_Intron Q5K4L6 S27A3_HUMAN solute carrier family 27 (fatty acid transporter), member 3 136 fatty acid metabolic process integral to membrane|mitochondrial membrane ligase activity|nucleotide binding NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1) 14 all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) CACGGCTCGCGGCGCTTTAGC 0.711 3 10 --- --- --- --- SH2D2A 9047 broad.mit.edu 37 1 156779038 156779038 + Missense_Mutation SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr1:156779038G>T ENST00000392306.2 - 7 1128 c.989C>A c.(988-990)cCt>cAt p.P330H SH2D2A_ENST00000368198.3_Missense_Mutation_p.P302H|SH2D2A_ENST00000368199.3_Missense_Mutation_p.P320H NM_001161441.1 NP_001154913.1 Q9NP31 SH22A_HUMAN SH2 domain containing 2A 320 Pro-rich. angiogenesis|cell differentiation|signal transduction cytoplasm|soluble fraction SH3 domain binding|SH3/SH2 adaptor activity p.P320H(1)|p.P330H(1) endometrium(1)|large_intestine(2)|lung(15) 18 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CCGTAGGACAGGGTGCCCAAG 0.602 9 260 --- --- --- --- ARHGEF11 9826 broad.mit.edu 37 1 156916777 156916777 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr1:156916777C>A ENST00000368194.3 - 27 3558 c.2519G>T c.(2518-2520)cGg>cTg p.R840L ARHGEF11_ENST00000315174.8_Missense_Mutation_p.R216L|ARHGEF11_ENST00000361409.2_Missense_Mutation_p.R800L NM_198236.2 NP_937879.1 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 800 DH. actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction cytosol|Golgi apparatus|plasma membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity p.R840L(1) NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2) 81 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) GCCTTCCTCCCGGAGCTTCTT 0.542 5 177 --- --- --- --- SPTA1 6708 broad.mit.edu 37 1 158648265 158648265 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr1:158648265C>A ENST00000368147.4 - 6 918 c.738G>T c.(736-738)tgG>tgT p.W246C NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) GAAGGCGCTCCCAGGCAGCAT 0.453 5 83 --- --- --- --- AXDND1 126859 broad.mit.edu 37 1 179437608 179437608 + Missense_Mutation SNP G G A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr1:179437608G>A ENST00000367618.3 + 17 2216 c.1829G>A c.(1828-1830)aGt>aAt p.S610N AXDND1_ENST00000461179.2_3'UTR|AXDND1_ENST00000457238.2_3'UTR NM_144696.4 NP_653297.3 Q5T1B0 AXDN1_HUMAN axonemal dynein light chain domain containing 1 610 NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 59 AGTTTGATTAGTTCTCTTGAC 0.294 4 50 --- --- --- --- XPR1 9213 broad.mit.edu 37 1 180772720 180772720 + Silent SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr1:180772720C>A ENST00000367590.4 + 4 618 c.420C>A c.(418-420)ctC>ctA p.L140L XPR1_ENST00000367589.3_Silent_p.L140L NM_004736.3 NP_004727.2 Q9UBH6 XPR1_HUMAN xenotropic and polytropic retrovirus receptor 1 140 SPX. integral to plasma membrane G-protein coupled receptor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 35 AGTTCTACCTCAGTCTAATCC 0.403 5 122 --- --- --- --- NCF2 4688 broad.mit.edu 37 1 183536470 183536470 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr1:183536470C>A ENST00000413720.1 - 7 863 c.589G>T c.(589-591)Ggg>Tgg p.G197W NCF2_ENST00000367535.3_Missense_Mutation_p.G242W|NCF2_ENST00000418089.1_Missense_Mutation_p.G161W|NCF2_ENST00000367536.1_Missense_Mutation_p.G242W NM_001190794.1 NP_001177723.1 P19878 NCF2_HUMAN neutrophil cytosolic factor 2 242 cellular defense response|innate immune response|respiratory burst|superoxide anion generation NADPH oxidase complex|nucleolus electron carrier activity|protein C-terminus binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 30 TGAGCCTCCCCTTCCAGAGCC 0.532 7 262 --- --- --- --- SHISA4 149345 broad.mit.edu 37 1 201860964 201860964 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr1:201860964C>A ENST00000362011.6 + 5 871 c.584C>A c.(583-585)cCg>cAg p.P195Q SHISA4_ENST00000464117.1_3'UTR NM_198149.2 NP_937792.2 Q96DD7 SHSA4_HUMAN shisa family member 4 195 Pro-rich. integral to membrane kidney(1)|lung(4) 5 CCCTCTTACCCGGGAGCCTGA 0.577 5 158 --- --- --- --- PIK3C2B 5287 broad.mit.edu 37 1 204433187 204433187 + Silent SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr1:204433187C>A ENST00000367187.3 - 6 1819 c.1263G>T c.(1261-1263)gtG>gtT p.V421V PIK3C2B_ENST00000424712.2_Silent_p.V421V NM_002646.3 NP_002637.3 O00750 P3C2B_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta 421 cell communication|phosphatidylinositol-mediated signaling endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 52 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) CAAAGTCACCCACGTCCACAT 0.542 6 149 --- --- --- --- CR1 1378 broad.mit.edu 37 1 207741321 207741321 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr1:207741321C>A ENST00000367049.4 + 25 4105 c.4105C>A c.(4105-4107)Cgc>Agc p.R1369S CR1_ENST00000367053.1_Missense_Mutation_p.R919S|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000400960.2_Missense_Mutation_p.R919S|CR1_ENST00000367052.1_Intron|CR1_ENST00000367051.1_Missense_Mutation_p.R919S NM_000651.4 NP_000642.3 P17927 CR1_HUMAN complement component (3b/4b) receptor 1 (Knops blood group) 919 Sushi 21. complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 GAGCACCATCCGCTGCACAAG 0.542 6 200 --- --- --- --- NID1 4811 broad.mit.edu 37 1 236180449 236180449 + Splice_Site SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr1:236180449C>A ENST00000264187.6 - 10 2335 c.2253G>T c.(2251-2253)gtG>gtT p.V751V NID1_ENST00000366595.3_Intron NM_002508.2 NP_002499.2 P14543 NID1_HUMAN nidogen 1 751 EGF-like 3; calcium-binding (Potential). cell-matrix adhesion basement membrane calcium ion binding breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1) 66 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) AGAACTTACCCACACACGTTC 0.478 7 179 --- --- --- --- RYR2 6262 broad.mit.edu 37 1 237806690 237806690 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr1:237806690C>A ENST00000366574.2 + 48 7602 c.7285C>A c.(7285-7287)Ctg>Atg p.L2429M RYR2_ENST00000360064.6_Missense_Mutation_p.L2427M|RYR2_ENST00000542537.1_Missense_Mutation_p.L2413M NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 2429 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CCTCATTCCCCTGGGAGATTT 0.428 6 138 --- --- --- --- CHRM3 1131 broad.mit.edu 37 1 240072328 240072328 + Missense_Mutation SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr1:240072328G>T ENST00000255380.4 + 5 2356 c.1577G>T c.(1576-1578)tGg>tTg p.W526L NM_000740.2 NP_000731.1 P20309 ACM3_HUMAN cholinergic receptor, muscarinic 3 526 cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1) 51 Ovarian(103;0.127) all_cancers(173;0.00567)|all_neural(198;0.203) OV - Ovarian serous cystadenocarcinoma(106;0.00989) Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505) AAAACCTTTTGGAATCTGGGC 0.483 5 83 --- --- --- --- AHCTF1 25909 broad.mit.edu 37 1 247013490 247013490 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr1:247013490C>A ENST00000366508.1 - 33 6059 c.5923G>T c.(5923-5925)Ggg>Tgg p.G1975W AHCTF1_ENST00000326225.3_Missense_Mutation_p.G1949W|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000391829.2_Missense_Mutation_p.G1940W Q8WYP5 ELYS_HUMAN AT hook containing transcription factor 1 1940 Necessary for nuclear localization (By similarity). cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm DNA binding NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 74 all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) ACTTCTCTCCCTCTGACCCTT 0.393 6 174 --- --- --- --- OR2M5 127059 broad.mit.edu 37 1 248308458 248308458 + Missense_Mutation SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr1:248308458G>T ENST00000366476.1 + 1 9 c.9G>T c.(7-9)tgG>tgT p.W3C NM_001004690.1 NP_001004690.1 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, member 5 3 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 49 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0388) TCATGGCATGGGAGAATCAGA 0.413 8 283 --- --- --- --- OR2M3 127062 broad.mit.edu 37 1 248366998 248366998 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr1:248366998C>A ENST00000456743.1 + 1 667 c.629C>A c.(628-630)cCt>cAt p.P210H NM_001004689.1 NP_001004689.1 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, member 3 210 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 50 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) ATTGTTTTCCCTGTTGCAATC 0.418 9 336 --- --- --- --- NCOA1 8648 broad.mit.edu 37 2 24933958 24933958 + Silent SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr2:24933958C>A ENST00000405141.1 + 15 3288 c.2577C>A c.(2575-2577)gcC>gcA p.A859A NCOA1_ENST00000348332.3_Silent_p.A859A|NCOA1_ENST00000395856.3_Silent_p.A859A|NCOA1_ENST00000407230.1_Silent_p.A708A|NCOA1_ENST00000406961.1_Silent_p.A859A|NCOA1_ENST00000288599.5_Silent_p.A859A|NCOA1_ENST00000538539.1_Silent_p.A859A Q15788 NCOA1_HUMAN nuclear receptor coactivator 1 859 Interaction with CREBBP. PAX3/NCOA1(8) breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 53 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCGCCACTGCCAGACCCACTT 0.468 T PAX3 alveolar rhadomyosarcoma 4 41 --- --- --- --- CAD 790 broad.mit.edu 37 2 27446507 27446507 + Missense_Mutation SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr2:27446507G>T ENST00000264705.4 + 7 1048 c.886G>T c.(886-888)Ggg>Tgg p.G296W CAD_ENST00000403525.1_Missense_Mutation_p.G296W NM_004341.3 NP_004332.2 P27708 PYR1_HUMAN carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase 296 GATase (Glutamine amidotransferase).|Glutamine amidotransferase type-1. 'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process cytosol|neuronal cell body|nuclear matrix|terminal button aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 92 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) CCAGAACCATGGGTTTGCTGT 0.557 7 254 --- --- --- --- C2orf71 388939 broad.mit.edu 37 2 29296096 29296096 + Silent SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr2:29296096G>T ENST00000331664.5 - 1 1031 c.1032C>A c.(1030-1032)ccC>ccA p.P344P NM_001029883.2 NP_001025054.1 A6NGG8 CB071_HUMAN chromosome 2 open reading frame 71 344 response to stimulus|visual perception photoreceptor outer segment NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1) 60 CAGAGCATAAGGGGAGACCCT 0.602 7 92 --- --- --- --- CEBPZ 10153 broad.mit.edu 37 2 37455747 37455747 + Missense_Mutation SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr2:37455747G>T ENST00000234170.5 - 2 734 c.589C>A c.(589-591)Cag>Aag p.Q197K NM_005760.2 NP_005751.2 Q03701 CEBPZ_HUMAN CCAAT/enhancer binding protein (C/EBP), zeta 197 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 28 all_hematologic(82;0.21) TCCTGAGGCTGGGGTTTCAAA 0.388 5 104 --- --- --- --- VRK2 7444 broad.mit.edu 37 2 58359012 58359012 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr2:58359012C>A ENST00000435505.2 + 12 1491 c.746C>A c.(745-747)cCc>cAc p.P249H VRK2_ENST00000340157.4_Missense_Mutation_p.P249H|VRK2_ENST00000440705.2_Missense_Mutation_p.P226H|VRK2_ENST00000417641.2_Missense_Mutation_p.P249H|VRK2_ENST00000412104.2_Missense_Mutation_p.P249H Q86Y07 VRK2_HUMAN vaccinia related kinase 2 249 Protein kinase. integral to membrane ATP binding|protein binding|protein serine/threonine kinase activity endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1) 24 GGGAAACTTCCCTGGGAACAG 0.468 7 75 --- --- --- --- ARHGAP25 9938 broad.mit.edu 37 2 69002503 69002503 + Missense_Mutation SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr2:69002503G>T ENST00000295381.3 + 2 631 c.212G>T c.(211-213)aGg>aTg p.R71M ARHGAP25_ENST00000456116.2_3'UTR|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.R71M|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.R64M|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.R64M|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.R71M|ARHGAP25_ENST00000544262.1_Missense_Mutation_p.R45M|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.R64M NM_001007231.2 NP_001007232.2 P42331 RHG25_HUMAN Rho GTPase activating protein 25 71 PH. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 52 TTTGTGCTGAGGGCGCAGCAG 0.592 7 194 --- --- --- --- DGUOK 1716 broad.mit.edu 37 2 74177856 74177856 + Silent SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr2:74177856C>A ENST00000264093.4 + 4 673 c.588C>A c.(586-588)ccC>ccA p.P196P DGUOK_ENST00000356837.6_Silent_p.P174P|DGUOK_ENST00000462685.1_3'UTR|DGUOK_ENST00000348222.1_Intron|DGUOK-AS1_ENST00000453103.1_RNA NM_080916.2 NP_550438.1 Q16854 DGUOK_HUMAN deoxyguanosine kinase 196 guanosine metabolic process|purine base metabolic process|purine deoxyribonucleoside metabolic process|purine-containing compound salvage mitochondrial matrix ATP binding|deoxyguanosine kinase activity|phosphotransferase activity, alcohol group as acceptor p.P196P(1) endometrium(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 8 AGGCTTCTCCCCAGGTAACAC 0.473 7 228 --- --- --- --- TTC31 64427 broad.mit.edu 37 2 74718660 74718660 + Missense_Mutation SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr2:74718660G>T ENST00000410003.1 + 8 746 c.737G>T c.(736-738)gGg>gTg p.G246V TTC31_ENST00000233623.5_Missense_Mutation_p.G246V|TTC31_ENST00000442235.2_Missense_Mutation_p.G102V|TTC31_ENST00000463189.1_3'UTR Q49AM3 TTC31_HUMAN tetratricopeptide repeat domain 31 246 binding breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1) 9 CGCAAGGTTGGGGATTGGCCC 0.552 8 310 --- --- --- --- IGKV1-6 28943 broad.mit.edu 37 2 89266205 89266205 + RNA SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr2:89266205G>T ENST00000464162.1 - 0 81 ATCCTTACCTGGGAGCCAGAG 0.557 7 231 --- --- --- --- IGKV2-30 28919 broad.mit.edu 37 2 89544388 89544388 + RNA SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr2:89544388C>A ENST00000468494.1 - 0 265 CCCAGAGTCCCGGTTAGAAAC 0.498 6 234 --- --- --- --- WDR33 55339 broad.mit.edu 37 2 128463962 128463962 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr2:128463962C>A ENST00000322313.4 - 22 4104 c.3946G>T c.(3946-3948)Ggg>Tgg p.G1316W NM_018383.4 NP_060853.3 Q9C0J8 WDR33_HUMAN WD repeat domain 33 1316 postreplication repair|spermatogenesis collagen|nucleus protein binding NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0695) ATGTTACTCCCTCTACCCCAG 0.617 7 196 --- --- --- --- POTEF 728378 broad.mit.edu 37 2 130832650 130832650 + Nonsense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr2:130832650C>A ENST00000357462.5 - 15 2488 c.2395G>T c.(2395-2397)Gag>Tag p.E799* POTEF_ENST00000409914.2_Nonsense_Mutation_p.E799* A5A3E0 POTEF_HUMAN POTE ankyrin domain family, member F 799 Actin-like. cell cortex ATP binding p.E799K(1) breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 53 GGGTGCTCCTCGGGAGCCACA 0.577 6 165 --- --- --- --- MCM6 4175 broad.mit.edu 37 2 136626319 136626319 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr2:136626319C>A ENST00000264156.2 - 4 537 c.477G>T c.(475-477)ttG>ttT p.L159F NM_005915.5 NP_005906.2 Q14566 MCM6_HUMAN minichromosome maintenance complex component 6 159 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|identical protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1) 29 BRCA - Breast invasive adenocarcinoma(221;0.166) Atorvastatin(DB01076) TCTGACAGTCCAAGCACAGAA 0.502 6 122 --- --- --- --- NEB 4703 broad.mit.edu 37 2 152404242 152404242 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr2:152404242C>A ENST00000427231.2 - 132 20370 c.20168G>T c.(20167-20169)cGg>cTg p.R6723L NEB_ENST00000604864.1_Missense_Mutation_p.R6723L|NEB_ENST00000409198.1_Missense_Mutation_p.R5022L|NEB_ENST00000172853.10_Missense_Mutation_p.R5022L|NEB_ENST00000603639.1_Missense_Mutation_p.R6723L|NEB_ENST00000397345.3_Missense_Mutation_p.R6723L NM_001164507.1|NM_001271208.1 NP_001157979|NP_001258137.1 P20929 NEBU_HUMAN nebulin 5022 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) GTACAATTCCCGATACAGTCT 0.438 3 24 --- --- --- --- SLC4A10 57282 broad.mit.edu 37 2 162751333 162751333 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr2:162751333C>A ENST00000375514.5 + 11 1569 c.1282C>A c.(1282-1284)Cag>Aag p.Q428K SLC4A10_ENST00000446997.1_Missense_Mutation_p.Q447K|SLC4A10_ENST00000415876.2_Missense_Mutation_p.Q417K|SLC4A10_ENST00000535165.1_3'UTR|SLC4A10_ENST00000272716.5_Missense_Mutation_p.Q417K|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000421911.1_Missense_Mutation_p.Q447K NM_001178016.1 NP_001171487.1 Q6U841 S4A10_HUMAN solute carrier family 4, sodium bicarbonate transporter, member 10 447 bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 TGTTCCTTCCCAGGTATGTAT 0.303 5 114 --- --- --- --- XIRP2 129446 broad.mit.edu 37 2 168098403 168098403 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr2:168098403C>A ENST00000409195.1 + 8 1248 c.1159C>A c.(1159-1161)Cca>Aca p.P387T XIRP2_ENST00000409756.2_Missense_Mutation_p.P387T|XIRP2_ENST00000409605.1_Missense_Mutation_p.P165T|XIRP2_ENST00000409043.1_Missense_Mutation_p.P387T|XIRP2_ENST00000295237.9_Missense_Mutation_p.P387T|XIRP2_ENST00000409273.1_Missense_Mutation_p.P165T|XIRP2_ENST00000409728.1_Missense_Mutation_p.P420T|XIRP2_ENST00000420519.1_Missense_Mutation_p.P420T NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 212 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 GATGACAACCCCAGCCAAGCA 0.353 7 139 --- --- --- --- TTN 7273 broad.mit.edu 37 2 179463879 179463879 + Missense_Mutation SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr2:179463879G>T ENST00000589042.1 - 290 56865 c.56641C>A c.(56641-56643)Ctc>Atc p.L18881I TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L16313I|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L9941I|TTN_ENST00000342175.6_Missense_Mutation_p.L10008I|TTN_ENST00000591111.1_Missense_Mutation_p.L17240I|TTN_ENST00000460472.2_Missense_Mutation_p.L9816I NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 17240 Ig-like 107. R -> K (in a metastatic melanoma sample; somatic mutation). ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTACAGAAGAGGTTTCTTGCT 0.353 8 360 --- --- --- --- TTN 7273 broad.mit.edu 37 2 179497435 179497435 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr2:179497435C>A ENST00000589042.1 - 235 43522 c.43298G>T c.(43297-43299)aGg>aTg p.R14433M TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R11865M|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R5493M|TTN_ENST00000342175.6_Missense_Mutation_p.R5560M|TTN_ENST00000591111.1_Missense_Mutation_p.R12792M|TTN_ENST00000460472.2_Missense_Mutation_p.R5368M NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 12792 Fibronectin type-III 4. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTTGGGCTCCCTGGATACTTC 0.423 7 226 --- --- --- --- ANKRD44 91526 broad.mit.edu 37 2 197878372 197878372 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr2:197878372C>A ENST00000328737.2 - 18 1788 c.1712G>T c.(1711-1713)aGg>aTg p.R571M ANKRD44_ENST00000337207.5_Missense_Mutation_p.R571M|ANKRD44_ENST00000450567.1_Missense_Mutation_p.R571M|ANKRD44_ENST00000282272.8_Missense_Mutation_p.R588M Q8N8A2 ANR44_HUMAN ankyrin repeat domain 44 596 protein binding p.R411M(1)|p.R571M(1) NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 45 OV - Ovarian serous cystadenocarcinoma(117;0.246) TTTCTCATCCCTGATGTCCAG 0.517 8 230 --- --- --- --- C2orf80 389073 broad.mit.edu 37 2 209047698 209047698 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr2:209047698C>A ENST00000341287.4 - 4 392 c.197G>T c.(196-198)tGg>tTg p.W66L C2orf80_ENST00000451346.1_Missense_Mutation_p.W47L|C2orf80_ENST00000453017.1_Missense_Mutation_p.W66L NM_001099334.2 NP_001092804 Q0P641 CB080_HUMAN chromosome 2 open reading frame 80 66 endometrium(2)|large_intestine(3)|lung(6)|skin(2) 13 CAGTTCCTCCCACTCCAGCCA 0.453 7 207 --- --- --- --- ERBB4 2066 broad.mit.edu 37 2 212426647 212426647 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr2:212426647C>A ENST00000342788.4 - 20 2778 c.2468G>T c.(2467-2469)tGg>tTg p.W823L ERBB4_ENST00000402597.1_Missense_Mutation_p.W813L|ERBB4_ENST00000436443.1_Missense_Mutation_p.W823L NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 823 Protein kinase. cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) CTGGACACACCAGTTAAGCAG 0.408 TSP Lung(8;0.080) 6 182 --- --- --- --- PNKD 25953 broad.mit.edu 37 2 219136176 219136176 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr2:219136176C>A ENST00000273077.4 + 2 191 c.140C>A c.(139-141)cCa>cAa p.P47Q PNKD_ENST00000472650.1_3'UTR|PNKD_ENST00000248451.3_Missense_Mutation_p.P47Q NM_015488.4 NP_056303.3 Q8N490 PNKD_HUMAN paroxysmal nonkinesigenic dyskinesia 47 P -> S (in Ref. 9; AAH36457). membrane|mitochondrion|nucleus hydroxyacylglutathione hydrolase activity|zinc ion binding NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2) 10 Renal(207;0.0474) Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CACAGCTCCCCAGAGGGCAAG 0.572 5 91 --- --- --- --- NYAP2 57624 broad.mit.edu 37 2 226446710 226446710 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr2:226446710C>A ENST00000272907.6 + 4 990 c.577C>A c.(577-579)Ccc>Acc p.P193T NYAP2_ENST00000409269.2_Intron NM_020864.1 NP_065915.1 Q9P242 K1486_HUMAN neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 193 GATTCCTCCTCCCAAACCGAA 0.478 7 206 --- --- --- --- ALPP 250 broad.mit.edu 37 2 233245442 233245442 + Silent SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr2:233245442C>A ENST00000392027.2 + 8 1244 c.975C>A c.(973-975)ccC>ccA p.P325P AC068134.8_ENST00000439072.1_RNA|AC068134.8_ENST00000441266.1_RNA NM_001632.3 NP_001623.3 P05187 PPB1_HUMAN alkaline phosphatase, placental 325 anchored to membrane|cell surface|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2) 22 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) GCAGGAACCCCCGCGGCTTCT 0.647 5 58 --- --- --- --- KCNJ13 3769 broad.mit.edu 37 2 233635818 233635818 + Silent SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr2:233635818C>A ENST00000233826.3 - 2 394 c.255G>T c.(253-255)ctG>ctT p.L85L GIGYF2_ENST00000409547.1_Intron|GIGYF2_ENST00000409451.3_Intron|KCNJ13_ENST00000409779.1_Intron|KCNJ13_ENST00000410029.1_Silent_p.L85L|GIGYF2_ENST00000452341.2_Intron|GIGYF2_ENST00000409196.3_Intron|GIGYF2_ENST00000373566.3_Intron|GIGYF2_ENST00000373563.4_Intron|GIGYF2_ENST00000409480.1_Intron NM_002242.4 NP_002233.2 O60928 IRK13_HUMAN potassium inwardly-rectifying channel, subfamily J, member 13 85 voltage-gated potassium channel complex inward rectifier potassium channel activity endometrium(3)|large_intestine(2)|lung(2)|stomach(1)|urinary_tract(1) 9 Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0306)|Lung NSC(271;0.0908) Epithelial(121;5.9e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0617) GATCTAGTTCCAGATCACCAT 0.468 5 125 --- --- --- --- INPP5D 3635 broad.mit.edu 37 2 234113040 234113040 + Silent SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr2:234113040C>A ENST00000359570.5 + 28 3208 c.3208C>A c.(3208-3210)Cgg>Agg p.R1070R INPP5D_ENST00000450745.1_Silent_p.R834R|INPP5D_ENST00000455936.2_Silent_p.R834R Q92835 SHIP1_HUMAN inositol polyphosphate-5-phosphatase, 145kDa 0 Pro-rich. apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway cytosol inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding central_nervous_system(1)|ovary(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) GCCCGCGCCCCGGCTGCGCTC 0.726 3 16 --- --- --- --- UGT1A4 54657 broad.mit.edu 37 2 234628279 234628279 + Silent SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr2:234628279C>A ENST00000373409.3 + 1 856 c.813C>A c.(811-813)ccC>ccA p.P271P UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A5_ENST00000373414.3_Intron NM_007120.2 NP_009051.1 autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1) 26 Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128) Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624) CGATCATGCCCAACATGGTCT 0.512 7 181 --- --- --- --- RBM44 375316 broad.mit.edu 37 2 238738070 238738070 + Silent SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr2:238738070C>A ENST00000316997.4 + 13 2946 c.2814C>A c.(2812-2814)tcC>tcA p.S938S RBM44_ENST00000409864.1_Silent_p.S938S NM_001080504.2 NP_001073973.2 Q6ZP01 RBM44_HUMAN RNA binding motif protein 44 937 nucleotide binding|RNA binding breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266) CAGAATTCTCCATTTCTAGAT 0.413 7 150 --- --- --- --- ARPC4 10093 broad.mit.edu 37 3 9845526 9845526 + Splice_Site SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr3:9845526G>T ENST00000397261.3 + 5 894 c.e5-1 ARPC4_ENST00000287613.7_Splice_Site|ARPC4_ENST00000433034.1_Splice_Site|ARPC4_ENST00000498623.2_Splice_Site|ARPC4-TTLL3_ENST00000397256.1_Intron NM_005718.4 NP_005709.1 actin related protein 2/3 complex, subunit 4, 20kDa breast(1)|lung(1) 2 Medulloblastoma(99;0.227) TTCTTCCCTAGGGGTATGATA 0.483 7 205 --- --- --- --- SGOL1 151648 broad.mit.edu 37 3 20219789 20219789 + Silent SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr3:20219789G>T ENST00000412997.1 - 4 741 c.390C>A c.(388-390)tcC>tcA p.S130S SGOL1_ENST00000442720.1_Silent_p.S130S|SGOL1_ENST00000421451.1_Silent_p.S130S|SGOL1_ENST00000419233.2_Silent_p.S130S|SGOL1_ENST00000263753.4_Silent_p.S130S|SGOL1_ENST00000306698.2_Silent_p.S130S|SGOL1_ENST00000429446.3_Silent_p.S130S|SGOL1_ENST00000417364.1_Silent_p.S130S|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000383774.1_Silent_p.S130S|SGOL1_ENST00000437051.1_Silent_p.S130S|SGOL1_ENST00000425061.1_Silent_p.S130S|SGOL1_ENST00000412868.1_Silent_p.S130S|SGOL1_ENST00000452020.1_Silent_p.S130S|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000443724.1_Silent_p.S130S NM_001199251.1 NP_001186180.1 Q5FBB7 SGOL1_HUMAN shugoshin-like 1 (S. pombe) 130 Necessary for interaction with PPP2CA and PPP2R1A. attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole protein binding kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2) 14 ATAAATTTCTGGAGCTGTCAT 0.303 5 100 --- --- --- --- SCN11A 11280 broad.mit.edu 37 3 38968409 38968409 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr3:38968409C>A ENST00000450244.1 - 4 700 c.502G>T c.(502-504)Ggg>Tgg p.G168W SCN11A_ENST00000302328.3_Missense_Mutation_p.G168W|SCN11A_ENST00000456224.3_Missense_Mutation_p.G168W|SCN11A_ENST00000444237.2_Missense_Mutation_p.G168W Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 168 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) ATATAAATCCCAGTGAAGACA 0.363 6 101 --- --- --- --- TRAK1 22906 broad.mit.edu 37 3 42251446 42251446 + Silent SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr3:42251446C>A ENST00000327628.5 + 14 2332 c.1932C>A c.(1930-1932)acC>acA p.T644T TRAK1_ENST00000396175.1_Silent_p.T586T|TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000341421.3_Silent_p.T586T NM_001042646.2 NP_001036111.1 Q9UPV9 TRAK1_HUMAN trafficking protein, kinesin binding 1 644 endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter early endosome|mitochondrion|nucleus central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 22 GCCTAGCTACCTCCACTCCAG 0.567 5 70 --- --- --- --- BSN 8927 broad.mit.edu 37 3 49691124 49691124 + Missense_Mutation SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr3:49691124G>T ENST00000296452.4 + 5 4249 c.4135G>T c.(4135-4137)Ggg>Tgg p.G1379W NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 1379 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) CCAGGGCCCTGGGACCCCAGC 0.622 5 103 --- --- --- --- APEH 327 broad.mit.edu 37 3 49714355 49714355 + Silent SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr3:49714355C>A ENST00000296456.5 + 10 1297 c.897C>A c.(895-897)tcC>tcA p.S299S APEH_ENST00000438011.1_Silent_p.S299S NM_001640.3 NP_001631.3 P13798 ACPH_HUMAN acylaminoacyl-peptide hydrolase 299 proteolysis cytoplasm|nuclear membrane serine-type endopeptidase activity endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1) 15 BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) CGGATGACTCCCTGGCTGTCT 0.592 7 117 --- --- --- --- ARF4 378 broad.mit.edu 37 3 57558024 57558024 + Splice_Site SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr3:57558024C>A ENST00000303436.6 - 6 725 c.458G>T c.(457-459)tGg>tTg p.W153L ARF4_ENST00000489843.1_Splice_Site_p.W44L|ARF4_ENST00000496292.1_Splice_Site_p.W126L NM_001660.3 NP_001651.1 P18085 ARF4_HUMAN ADP-ribosylation factor 4 153 protein transport|small GTPase mediated signal transduction|vesicle-mediated transport Golgi apparatus GTP binding|GTPase activity large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 7 KIRC - Kidney renal clear cell carcinoma(284;0.0449)|Kidney(284;0.0561) TTGAACATACCACTGTAAAGA 0.343 6 157 --- --- --- --- PTPRG 5793 broad.mit.edu 37 3 62267307 62267307 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr3:62267307C>A ENST00000474889.1 + 27 4212 c.3835C>A c.(3835-3837)Ctt>Att p.L1279I PTPRG-AS1_ENST00000490916.1_RNA|PTPRG-AS1_ENST00000466893.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG_ENST00000295874.10_Missense_Mutation_p.L1250I|PTPRG-AS1_ENST00000479018.1_RNA NM_002841.3 NP_002832.3 P23470 PTPRG_HUMAN protein tyrosine phosphatase, receptor type, G 1279 Tyrosine-protein phosphatase 2. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane identical protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065) TACCGTCACCCTTATCAGCAA 0.418 5 98 --- --- --- --- ROBO1 6091 broad.mit.edu 37 3 78696802 78696802 + Missense_Mutation SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr3:78696802G>T ENST00000436010.2 - 18 3696 c.2699C>A c.(2698-2700)cCg>cAg p.P900Q ROBO1_ENST00000495273.1_Intron|ROBO1_ENST00000467549.1_Intron|ROBO1_ENST00000464233.1_Missense_Mutation_p.P939Q Q9Y6N7 ROBO1_HUMAN roundabout, axon guidance receptor, homolog 1 (Drosophila) 939 activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1) 44 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) GGTAAAAGACGGGACTGAAAA 0.343 7 395 --- --- --- --- BTLA 151888 broad.mit.edu 37 3 112198518 112198518 + Missense_Mutation SNP A A G TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr3:112198518A>G ENST00000334529.5 - 2 389 c.187T>C c.(187-189)Tgt>Cgt p.C63R BTLA_ENST00000383680.4_Missense_Mutation_p.C63R NM_181780.3 NP_861445 Q7Z6A9 BTLA_HUMAN B and T lymphocyte associated 63 Ig-like V-type. T cell costimulation receptor activity breast(1)|central_nervous_system(1)|cervix(2)|large_intestine(1)|lung(5)|prostate(1) 11 Acute lymphoblastic leukemia(4;1.34e-07)|all_hematologic(4;0.000361) CTGTTAGCACAGTATTTCACA 0.398 46 75 --- --- --- --- GTPBP8 29083 broad.mit.edu 37 3 112710070 112710070 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr3:112710070C>A ENST00000383677.3 + 1 239 c.224C>A c.(223-225)cCg>cAg p.P75Q GTPBP8_ENST00000383678.2_Missense_Mutation_p.P75Q NM_138485.1 NP_612494.1 Q8N3Z3 GTPB8_HUMAN GTP-binding protein 8 (putative) 75 barrier septum formation GTP binding kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 6 GACCCAAGCCCGGAGGACATA 0.622 4 58 --- --- --- --- ATP6V1A 523 broad.mit.edu 37 3 113507718 113507718 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr3:113507718C>A ENST00000273398.3 + 7 983 c.875C>A c.(874-876)cCa>cAa p.P292Q ATP6V1A_ENST00000538620.1_Missense_Mutation_p.P259Q NM_001690.3 NP_001681.2 P38606 VATA_HUMAN ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A 292 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 CGGGACTTCCCAGAGGTCTGT 0.388 5 88 --- --- --- --- DZIP1L 199221 broad.mit.edu 37 3 137796416 137796416 + Silent SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr3:137796416G>T ENST00000327532.2 - 11 1709 c.1347C>A c.(1345-1347)ccC>ccA p.P449P DZIP1L_ENST00000488595.1_5'UTR|DZIP1L_ENST00000469243.1_Silent_p.P449P NM_173543.2 NP_775814.2 Q8IYY4 DZI1L_HUMAN DAZ interacting zinc finger protein 1-like 449 intracellular zinc ion binding p.P449P(1) breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1) 35 TCAGCAAAGTGGGGTTACGCC 0.532 6 153 --- --- --- --- MFSD1 64747 broad.mit.edu 37 3 158541297 158541297 + Silent SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr3:158541297G>T ENST00000415822.2 + 12 1446 c.1305G>T c.(1303-1305)ctG>ctT p.L435L MFSD1_ENST00000392813.4_Silent_p.L396L|MFSD1_ENST00000264266.8_Silent_p.L386L NM_022736.2 NP_073573.2 Q9H3U5 MFSD1_HUMAN major facilitator superfamily domain containing 1 386 transmembrane transport integral to membrane breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1) 26 Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523) AACATCAGCTGGGAACTGCAT 0.418 7 150 --- --- --- --- PIK3CA 5290 broad.mit.edu 37 3 178921552 178921552 + Missense_Mutation SNP A A T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr3:178921552A>T ENST00000263967.3 + 5 1191 c.1034A>T c.(1033-1035)aAt>aTt p.N345I NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 345 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.N345I(4)|p.N345S(1) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) ACCTACGTGAATGTAAATATT 0.303 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 4 105 --- --- --- --- PIK3CA 5290 broad.mit.edu 37 3 178936083 178936083 + Missense_Mutation SNP A A C TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr3:178936083A>C ENST00000263967.3 + 10 1782 c.1625A>C c.(1624-1626)gAa>gCa p.E542A NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 542 PI3K helical. E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E542V(8)|p.E542A(4)|p.E542G(1) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) CCTCTCTCTGAAATCACTGAG 0.333 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 5 56 --- --- --- --- FAM131A 131408 broad.mit.edu 37 3 184059793 184059793 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr3:184059793C>A ENST00000310585.4 + 1 1536 c.172C>A c.(172-174)Ctg>Atg p.L58M FAM131A_ENST00000450976.1_Intron|EIF2B5_ENST00000444495.1_Intron|FAM131A_ENST00000340957.5_Intron|FAM131A_ENST00000418281.1_Intron|FAM131A_ENST00000383847.2_Intron|FAM131A_ENST00000453072.1_Intron Q6UXB0 F131A_HUMAN family with sequence similarity 131, member A 58 extracellular region breast(1)|endometrium(1)|large_intestine(2)|lung(9)|skin(1) 14 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) TTCCACCTCCCTGCACCTGTG 0.582 7 192 --- --- --- --- CHRD 8646 broad.mit.edu 37 3 184102330 184102330 + Silent SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr3:184102330G>T ENST00000204604.1 + 13 1692 c.1446G>T c.(1444-1446)gtG>gtT p.V482V EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000450923.1_Silent_p.V482V|CHRD_ENST00000545352.1_Silent_p.V112V|CHRD_ENST00000348986.3_Silent_p.V442V NM_003741.2 NP_003732.2 Q9H2X0 CHRD_HUMAN chordin 482 CHRD 3. BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development extracellular space cytokine binding NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 all_cancers(143;6.33e-11)|Ovarian(172;0.0339) Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CCCAGGCCGTGGGTATCTGCC 0.602 7 213 --- --- --- --- HES1 3280 broad.mit.edu 37 3 193855647 193855647 + Silent SNP C C A rs144918671 TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr3:193855647C>A ENST00000232424.3 + 4 704 c.468C>A c.(466-468)ccC>ccA p.P156P NM_005524.3 NP_005515.1 Q14469 HES1_HUMAN hes family bHLH transcription factor 1 156 Pro-rich. endocrine pancreas development|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway nucleus histone deacetylase binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1) 6 all_cancers(143;7.3e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;3.65e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;1.48e-05) TGACCTACCCCGGGCAGCCGC 0.731 4 68 --- --- --- --- ADD1 118 broad.mit.edu 37 4 2929962 2929962 + Silent SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr4:2929962C>A ENST00000264758.7 + 15 2207 c.2019C>A c.(2017-2019)ccC>ccA p.P673P ADD1_ENST00000513328.2_3'UTR|ADD1_ENST00000503455.2_3'UTR|ADD1_ENST00000398129.1_Silent_p.P642P|ADD1_ENST00000398123.2_3'UTR|ADD1_ENST00000398125.1_3'UTR|ADD1_ENST00000355842.3_3'UTR|ADD1_ENST00000446856.1_Silent_p.P642P NM_014189.3 NP_054908.2 P35611 ADDA_HUMAN adducin 1 (alpha) 642 actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding cytosol|F-actin capping protein complex|nucleus|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2) 22 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) CAACTCTCCCCGATCTGTCCC 0.562 9 317 --- --- --- --- TBC1D1 23216 broad.mit.edu 37 4 38016162 38016162 + Silent SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr4:38016162G>T ENST00000261439.4 + 3 805 c.450G>T c.(448-450)gcG>gcT p.A150A TBC1D1_ENST00000508802.1_Silent_p.A150A NM_001253914.1|NM_001253915.1|NM_015173.3 NP_001240843.1|NP_001240844.1|NP_055988.2 Q86TI0 TBCD1_HUMAN TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 150 nucleus Rab GTPase activator activity p.A150A(1) NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 36 TCCGTCAGGCGGGGAAGATCG 0.597 5 148 --- --- --- --- UGT2B15 7366 broad.mit.edu 37 4 69520828 69520828 + Missense_Mutation SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr4:69520828G>T ENST00000338206.5 - 4 1087 c.1078C>A c.(1078-1080)Cag>Aag p.Q360K NM_001076.3 NP_001067.2 P54855 UDB15_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B15 360 steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity AGGTCATTCTGGGGTAACCAC 0.358 7 253 --- --- --- --- SHROOM3 57619 broad.mit.edu 37 4 77675725 77675725 + Silent SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr4:77675725C>A ENST00000296043.6 + 7 5042 c.4089C>A c.(4087-4089)ccC>ccA p.P1363P NM_020859.3 NP_065910.3 Q8TF72 SHRM3_HUMAN shroom family member 3 1363 apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 60 Lung(101;0.0903) CAGCCATTCCCTCTGGCTACT 0.642 5 59 --- --- --- --- CNOT6L 246175 broad.mit.edu 37 4 78647404 78647404 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr4:78647404C>A ENST00000504123.1 - 11 1502 c.1372G>T c.(1372-1374)Ggg>Tgg p.G458W CNOT6L_ENST00000264903.4_Missense_Mutation_p.G458W Q96LI5 CNO6L_HUMAN CCR4-NOT transcription complex, subunit 6-like 458 nuclear-transcribed mRNA poly(A) tail shortening cytosol exonuclease activity|protein binding kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1) 9 GTGATTCTCCCTTCTGAGCTT 0.418 7 314 --- --- --- --- MTTP 4547 broad.mit.edu 37 4 100503185 100503185 + Missense_Mutation SNP A A G TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr4:100503185A>G ENST00000457717.1 + 3 441 c.185A>G c.(184-186)aAc>aGc p.N62S MTTP_ENST00000422897.2_Missense_Mutation_p.N62S|MTTP_ENST00000511045.1_Missense_Mutation_p.N89S|MTTP_ENST00000265517.5_Missense_Mutation_p.N62S NM_000253.2 NP_000244.2 P55157 MTP_HUMAN microsomal triglyceride transfer protein 62 Vitellogenin. lipid metabolic process|lipoprotein metabolic process endoplasmic reticulum lumen lipid binding|lipid transporter activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1) 57 OV - Ovarian serous cystadenocarcinoma(123;6.04e-09) Hesperetin(DB01094) ATTTCCTCCAACGTGGATGTG 0.463 32 103 --- --- --- --- SLC9B2 133308 broad.mit.edu 37 4 103979095 103979095 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr4:103979095C>A ENST00000394785.3 - 4 936 c.305G>T c.(304-306)tGg>tTg p.W102L SLC9B2_ENST00000503230.1_Intron|SLC9B2_ENST00000503103.1_Intron|SLC9B2_ENST00000339611.4_Missense_Mutation_p.W102L|SLC9B2_ENST00000362026.3_Missense_Mutation_p.W102L NM_178833.4 NP_849155.2 Q86UD5 NHDC2_HUMAN solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2 102 sodium ion transport integral to membrane|mitochondrial membrane solute:hydrogen antiporter activity AGTAATTGACCAAACTACAGC 0.363 7 221 --- --- --- --- FAT4 79633 broad.mit.edu 37 4 126319956 126319956 + Missense_Mutation SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr4:126319956G>T ENST00000394329.3 + 2 5206 c.5193G>T c.(5191-5193)caG>caT p.Q1731H FAT4_ENST00000335110.5_Missense_Mutation_p.Q29H NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 1731 Cadherin 16. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 TAACACTTCAGGATATCAATG 0.428 6 126 --- --- --- --- CPE 1363 broad.mit.edu 37 4 166405652 166405652 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr4:166405652C>A ENST00000402744.4 + 5 1149 c.869C>A c.(868-870)cCg>cAg p.P290Q NM_001873.2 NP_001864.1 P16870 CBPE_HUMAN carboxypeptidase E 290 cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process extracellular region|nucleus|plasma membrane metallocarboxypeptidase activity|protein binding|zinc ion binding p.P290Q(2) endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 26 all_hematologic(180;0.221) Prostate(90;0.0962)|Melanoma(52;0.18) GBM - Glioblastoma multiforme(119;0.137) Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TCTTTCAACCCGGCCATGTCT 0.512 9 437 --- --- --- --- CLCN3 1182 broad.mit.edu 37 4 170613387 170613387 + Silent SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr4:170613387C>A ENST00000513761.1 + 7 1411 c.852C>A c.(850-852)ccC>ccA p.P284P CLCN3_ENST00000360642.3_Silent_p.P284P|CLCN3_ENST00000347613.4_Silent_p.P284P|CLCN3_ENST00000504131.2_Silent_p.P267P NM_001829.3 NP_001820.2 P51790 CLCN3_HUMAN chloride channel, voltage-sensitive 3 284 endosomal lumen acidification cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 29 Prostate(90;0.00601)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131) AAGAAGGTCCCCTGGTACATG 0.403 8 215 --- --- --- --- ZDHHC11 79844 broad.mit.edu 37 5 825296 825296 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr5:825296C>A ENST00000283441.8 - 8 1389 c.1006G>T c.(1006-1008)Ggg>Tgg p.G336W ZDHHC11_ENST00000503758.2_5'UTR|ZDHHC11_ENST00000424784.2_Missense_Mutation_p.G336W NM_024786.2 NP_079062.1 Q9H8X9 ZDH11_HUMAN zinc finger, DHHC-type containing 11 336 integral to membrane acyltransferase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1) 21 Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863) GTCGAATCCCCATCCTGGTTT 0.547 7 135 --- --- --- --- PDZD2 23037 broad.mit.edu 37 5 32090293 32090293 + Silent SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr5:32090293C>A ENST00000438447.1 + 20 7127 c.6739C>A c.(6739-6741)Cgg>Agg p.R2247R PDZD2_ENST00000282493.3_Silent_p.R2247R O15018 PDZD2_HUMAN PDZ domain containing 2 2247 R -> Q (in dbSNP:rs10066063). cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 GGGTCGCTCTCGGGACAGCCA 0.602 6 261 --- --- --- --- GHR 2690 broad.mit.edu 37 5 42719419 42719419 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr5:42719419C>A ENST00000230882.4 + 10 2000 c.1810C>A c.(1810-1812)Cca>Aca p.P604T GHR_ENST00000537449.1_Missense_Mutation_p.P417T|GHR_ENST00000357703.3_Missense_Mutation_p.P582T NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2 NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1 P10912 GHR_HUMAN growth hormone receptor 604 2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Myeloproliferative disorder(839;0.00878) Pegvisomant(DB00082)|Somatropin recombinant(DB00052) AGTACAGTCCCCACAGGGCCT 0.502 5 55 --- --- --- --- BDP1 55814 broad.mit.edu 37 5 70754459 70754459 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr5:70754459C>A ENST00000358731.4 + 2 529 c.266C>A c.(265-267)tCt>tAt p.S89Y BDP1_ENST00000380675.2_5'UTR NM_018429.2 NP_060899.2 A6H8Y1 BDP1_HUMAN B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB 89 Interaction with ZBTB43.|Ser-rich. regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) AGATCTTCCTCTACTGTTTCA 0.363 7 147 --- --- --- --- ANKRD34B 340120 broad.mit.edu 37 5 79855162 79855162 + Missense_Mutation SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr5:79855162G>T ENST00000338682.3 - 5 1349 c.677C>A c.(676-678)cCa>cAa p.P226Q NM_001004441.2 NP_001004441.2 A5PLL1 AN34B_HUMAN ankyrin repeat domain 34B 226 cytoplasm|nucleus NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1) 28 Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113) OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36) AGGGGAACCTGGGTCCCAGGT 0.527 6 60 --- --- --- --- KDM3B 51780 broad.mit.edu 37 5 137722222 137722222 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr5:137722222C>A ENST00000314358.5 + 7 1492 c.1292C>A c.(1291-1293)cCa>cAa p.P431Q KDM3B_ENST00000394866.1_Missense_Mutation_p.P87Q NM_016604.3 NP_057688 Q7LBC6 KDM3B_HUMAN lysine (K)-specific demethylase 3B 431 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 65 AGCTCCACCCCAAACACAGTG 0.572 7 93 --- --- --- --- CCDC69 26112 broad.mit.edu 37 5 150565077 150565077 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr5:150565077C>A ENST00000355417.2 - 7 695 c.521G>T c.(520-522)tGg>tTg p.W174L CCDC69_ENST00000521308.1_5'UTR NM_015621.2 NP_056436.2 A6NI79 CCD69_HUMAN coiled-coil domain containing 69 174 haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|stomach(1) 9 Medulloblastoma(196;0.091)|all_hematologic(541;0.207) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CTCCTGCTCCCAGAACTGGCT 0.532 6 154 --- --- --- --- LCP2 3937 broad.mit.edu 37 5 169697882 169697882 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr5:169697882C>A ENST00000046794.5 - 7 979 c.364G>T c.(364-366)Ggg>Tgg p.G122W NM_005565.3 NP_005556.1 Q13094 LCP2_HUMAN lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa) 122 immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway cytosol protein binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 23 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0109)|all_neural(177;0.0146) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) OV - Ovarian serous cystadenocarcinoma(192;0.247) TCATCCTCCCCATCCTGGTCA 0.547 4 38 --- --- --- --- IRF4 3662 broad.mit.edu 37 6 397178 397178 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr6:397178C>A ENST00000380956.4 + 5 689 c.563C>A c.(562-564)cCg>cAg p.P188Q IRF4_ENST00000495137.1_3'UTR NM_001195286.1|NM_002460.3 NP_001182215.1|NP_002451.2 Q15306 IRF4_HUMAN interferon regulatory factor 4 188 interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway cytoplasm DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2) 5 Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702) CAGCCACACCCGGAAATCCCG 0.562 T IGH@ MM 6 163 --- --- --- --- TDP2 51567 broad.mit.edu 37 6 24667063 24667063 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr6:24667063C>A ENST00000378198.4 - 1 198 c.28G>T c.(28-30)Ggg>Tgg p.G10W TDP2_ENST00000545995.1_Missense_Mutation_p.G40W O95551 TYDP2_HUMAN tyrosyl-DNA phosphodiesterase 2 10 cell surface receptor linked signaling pathway|double-strand break repair PML body 5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity kidney(2)|large_intestine(1)|lung(5)|ovary(1) 9 GCCTCCCTCCCGCCCTCCAGG 0.667 Direct reversal of damage 5 217 --- --- --- --- CCHCR1 54535 broad.mit.edu 37 6 31124678 31124678 + Silent SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr6:31124678G>T ENST00000396268.3 - 3 515 c.327C>A c.(325-327)ccC>ccA p.P109P CCHCR1_ENST00000396263.2_Silent_p.P20P|CCHCR1_ENST00000451521.2_Intron|CCHCR1_ENST00000376266.5_Silent_p.P20P|CCHCR1_ENST00000480060.1_Intron NM_001105563.1|NM_001105564.1 NP_001099033.1|NP_001099034.1 Q8TD31 CCHCR_HUMAN coiled-coil alpha-helical rod protein 1 20 R -> W (in allele HCR*WWCC; associated with psoriasis; dbSNP:rs130076). cell differentiation|multicellular organismal development cytoplasm|nucleus protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1) 23 GAGTTGAAAGGGGCCGAGCTT 0.552 6 79 --- --- --- --- SLC44A4 80736 broad.mit.edu 37 6 31833153 31833153 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr6:31833153C>A ENST00000544672.1 - 17 1767 c.1471G>T c.(1471-1473)Ggg>Tgg p.G491W SLC44A4_ENST00000229729.6_Missense_Mutation_p.G567W|SLC44A4_ENST00000375562.4_Missense_Mutation_p.G525W NM_001178045.1 NP_001171516.1 Q53GD3 CTL4_HUMAN solute carrier family 44, member 4 567 integral to membrane|plasma membrane choline transmembrane transporter activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2) 35 Choline(DB00122) AAATTCTTCCCGTAGATGGCG 0.547 6 172 --- --- --- --- SKIV2L 6499 broad.mit.edu 37 6 31929348 31929348 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr6:31929348C>A ENST00000375394.2 + 9 927 c.814C>A c.(814-816)Cca>Aca p.P272T SKIV2L_ENST00000544581.1_Missense_Mutation_p.P79T NM_006929.4 NP_008860.4 Q15477 SKIV2_HUMAN superkiller viralicidic activity 2-like (S. cerevisiae) 272 nucleus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1) 4 TGTATCCACCCCAGAGGCCCC 0.567 6 111 --- --- --- --- CYP21A2 1589 broad.mit.edu 37 6 32007917 32007917 + Missense_Mutation SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr6:32007917G>T ENST00000418967.2 + 7 1032 c.874G>T c.(874-876)Ggt>Tgt p.G292C CYP21A2_ENST00000435122.2_Missense_Mutation_p.G262C NM_000500.7 NP_000491.4 P08686 CP21A_HUMAN cytochrome P450, family 21, subfamily A, polypeptide 2 291 G -> D (in AH3; salt wasting form; less then 1% activity). glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 11 CCTCCTGATCGGTGGCACTGA 0.607 7 329 --- --- --- --- PEX6 5190 broad.mit.edu 37 6 42933787 42933787 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr6:42933787C>A ENST00000304611.8 - 12 2426 c.2357G>T c.(2356-2358)cGg>cTg p.R786L PEX6_ENST00000244546.4_Intron NM_000287.3 NP_000278.3 Q13608 PEX6_HUMAN peroxisomal biogenesis factor 6 786 protein import into peroxisome matrix, translocation|protein stabilization cytosol|peroxisomal membrane ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3) 15 all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562) CTCACCTTCCCGCACATTCTC 0.577 7 186 --- --- --- --- CUL9 23113 broad.mit.edu 37 6 43166474 43166474 + Silent SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr6:43166474C>A ENST00000252050.4 + 12 3015 c.2931C>A c.(2929-2931)ccC>ccA p.P977P CUL9_ENST00000372647.2_Silent_p.P977P|CUL9_ENST00000354495.3_Silent_p.P867P NM_015089.2 NP_055904.1 Q8IWT3 CUL9_HUMAN cullin 9 977 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4) 92 AGGGCAGCCCCGGAGGTGCCG 0.642 5 162 --- --- --- --- CUL9 23113 broad.mit.edu 37 6 43174217 43174217 + Silent SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr6:43174217C>A ENST00000252050.4 + 26 5265 c.5181C>A c.(5179-5181)gcC>gcA p.A1727A CUL9_ENST00000372647.2_Silent_p.A1727A|CUL9_ENST00000502937.1_3'UTR|CUL9_ENST00000354495.3_Silent_p.A1617A NM_015089.2 NP_055904.1 Q8IWT3 CUL9_HUMAN cullin 9 1727 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4) 92 TCTGTGATGCCCTTGACCGTT 0.542 6 74 --- --- --- --- ZNF318 24149 broad.mit.edu 37 6 43316169 43316169 + Missense_Mutation SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr6:43316169G>T ENST00000361428.2 - 6 3042 c.2965C>A c.(2965-2967)Cag>Aag p.Q989K ZNF318_ENST00000318149.3_Missense_Mutation_p.Q989K NM_014345.2 NP_055160.2 Q5VUA4 ZN318_HUMAN zinc finger protein 318 989 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding p.Q989K(1) autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 61 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) AAAGACTTCTGGGATTTATCG 0.448 7 248 --- --- --- --- TNFRSF21 27242 broad.mit.edu 37 6 47200572 47200572 + Nonsense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr6:47200572C>A ENST00000296861.2 - 6 2290 c.1897G>T c.(1897-1899)Gga>Tga p.G633* NM_014452.3 NP_055267.1 O75509 TNR21_HUMAN tumor necrosis factor receptor superfamily, member 21 633 cellular lipid metabolic process cytoplasm|integral to membrane protein binding|receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2) 21 Lung(136;0.189) CTCTTGACTCCAATAATTTCG 0.478 45 120 --- --- --- --- UBE3D 90025 broad.mit.edu 37 6 83754301 83754301 + Missense_Mutation SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr6:83754301G>T ENST00000369747.3 - 4 565 c.443C>A c.(442-444)cCc>cAc p.P148H NM_198920.1 NP_944602.1 Q7Z6J8 UB2CB_HUMAN ubiquitin protein ligase E3D 148 cytoplasm ligase activity ATTAGCAAAGGGGTCAGGATG 0.453 8 257 --- --- --- --- CYB5R4 51167 broad.mit.edu 37 6 84644322 84644322 + Missense_Mutation SNP T T C TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr6:84644322T>C ENST00000369681.5 + 11 963 c.823T>C c.(823-825)Tac>Cac p.Y275H CYB5R4_ENST00000479164.1_3'UTR NM_016230.3 NP_057314.2 Q7L1T6 NB5R4_HUMAN cytochrome b5 reductase 4 FAD-binding FR-type. cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process endoplasmic reticulum|perinuclear region of cytoplasm cytochrome-b5 reductase activity|heme binding|NAD(P)H oxidase activity breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 23 all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128) BRCA - Breast invasive adenocarcinoma(397;0.0871) AGGTTTGTACTACAGAAAGTG 0.358 15 20 --- --- --- --- NUS1 116150 broad.mit.edu 37 6 118015306 118015306 + Silent SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr6:118015306C>A ENST00000368494.3 + 3 823 c.654C>A c.(652-654)ccC>ccA p.P218P NM_138459.3 NP_612468.1 Q96E22 NGBR_HUMAN nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae) 218 angiogenesis|cell differentiation integral to membrane receptor activity|transferase activity, transferring alkyl or aryl (other than methyl) groups central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|prostate(2) 8 all_cancers(87;0.0395)|all_epithelial(87;0.0301) GBM - Glioblastoma multiforme(226;0.02)|OV - Ovarian serous cystadenocarcinoma(136;0.115)|all cancers(137;0.146) AAAAGAGACCCACAGATTTGG 0.368 5 102 --- --- --- --- HEY2 23493 broad.mit.edu 37 6 126080848 126080848 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr6:126080848C>A ENST00000368364.3 + 5 1111 c.914C>A c.(913-915)cCg>cAg p.P305Q HEY2_ENST00000368365.1_Missense_Mutation_p.P259Q NM_012259.2 NP_036391.1 Q9UBP5 HEY2_HUMAN hes-related family bHLH transcription factor with YRPW motif 2 305 negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent transcriptional repressor complex histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding breast(1)|large_intestine(7)|lung(5)|prostate(1) 14 UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193) GCCATCAGCCCGCCCTTGTCA 0.597 6 189 --- --- --- --- TAAR1 134864 broad.mit.edu 37 6 132966571 132966571 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr6:132966571C>A ENST00000275216.1 - 1 571 c.572G>T c.(571-573)gGg>gTg p.G191V NM_138327.1 NP_612200.1 Q96RJ0 TAAR1_HUMAN trace amine associated receptor 1 191 plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11) 18 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154) Amphetamine(DB00182) GGTCAGTACCCCAGATATTTT 0.348 6 114 --- --- --- --- TCF21 6943 broad.mit.edu 37 6 134212883 134212883 + Missense_Mutation SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr6:134212883G>T ENST00000367882.4 + 2 743 c.483G>T c.(481-483)gaG>gaT p.E161D TCF21_ENST00000237316.3_Missense_Mutation_p.E161D|RP3-323P13.2_ENST00000607573.1_RNA NM_003206.3 NP_003197.2 O43680 TCF21_HUMAN transcription factor 21 161 branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent nucleus androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1) 13 Colorectal(23;0.221)|Breast(56;0.247) GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783) GGAAACCCGAGAGTGACCTGA 0.657 4 39 --- --- --- --- GRM1 2911 broad.mit.edu 37 6 146755622 146755622 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr6:146755622C>A ENST00000361719.2 + 9 3745 c.3275C>A c.(3274-3276)cCg>cAg p.P1092Q GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000282753.1_Missense_Mutation_p.P1092Q|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000355289.4_3'UTR NM_001278064.1 NP_001264993.1 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 1092 synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) CTGGTCTCCCCGCCCGCGGAC 0.652 5 128 --- --- --- --- EZR 7430 broad.mit.edu 37 6 159190925 159190925 + Missense_Mutation SNP C C A rs142824813 byFrequency TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr6:159190925C>A ENST00000367075.3 - 11 1310 c.1142G>T c.(1141-1143)cGg>cTg p.R381L EZR_ENST00000392177.4_Missense_Mutation_p.R349L|EZR_ENST00000337147.7_Missense_Mutation_p.R381L NM_001111077.1 NP_001104547.1 P15311 EZRI_HUMAN ezrin 381 Interaction with SCYL3. actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane actin filament binding|cell adhesion molecule binding EZR/ROS1(4) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2) 15 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06) CTCCTGTGCCCGCTTCCTCTC 0.612 T ROS1 NSCLC 4 128 --- --- --- --- PDE10A 10846 broad.mit.edu 37 6 165895804 165895804 + Splice_Site SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr6:165895804C>A ENST00000366882.1 - 4 348 c.194G>T c.(193-195)aGg>aTg p.R65M PDE10A_ENST00000354448.4_Splice_Site_p.R65M|PDE10A_ENST00000539869.2_Splice_Site_p.R75M Q9Y233 PDE10_HUMAN phosphodiesterase 10A 65 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 71 Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221) OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05) Dipyridamole(DB00975) ATCACTTACCCTGCTGACTTC 0.348 6 145 --- --- --- --- GNA12 2768 broad.mit.edu 37 7 2771007 2771007 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr7:2771007C>A ENST00000275364.3 - 4 1116 c.954G>T c.(952-954)agG>agT p.R318S GNA12_ENST00000407653.1_Missense_Mutation_p.R242S|GNA12_ENST00000396960.3_Missense_Mutation_p.R170S|AMZ1_ENST00000489665.1_Intron|GNA12_ENST00000491117.1_5'UTR|GNA12_ENST00000407904.3_Missense_Mutation_p.R259S|GNA12_ENST00000544127.1_Missense_Mutation_p.R225S NM_007353.2 NP_031379.2 Q03113 GNA12_HUMAN guanine nucleotide binding protein (G protein) alpha 12 318 G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|Rho protein signal transduction brush border membrane|heterotrimeric G-protein complex D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 13 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;1.02e-13) GCGGGTCGCCCCTGAAGTCCG 0.567 6 76 --- --- --- --- EIF2AK1 27102 broad.mit.edu 37 7 6080676 6080676 + Silent SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr7:6080676G>T ENST00000199389.6 - 9 1112 c.966C>A c.(964-966)acC>acA p.T322T EIF2AK1_ENST00000495565.1_5'UTR|EIF2AK1_ENST00000536084.1_Silent_p.T198T NM_001134335.1|NM_014413.3 NP_001127807.1|NP_055228.2 Q9BQI3 E2AK1_HUMAN eukaryotic translation initiation factor 2-alpha kinase 1 322 Protein kinase. negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress cytoplasm ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2) 27 Ovarian(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14) GGAGCTCCAGGGTCGACTCAA 0.458 8 178 --- --- --- --- HDAC9 9734 broad.mit.edu 37 7 18975506 18975506 + Missense_Mutation SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr7:18975506G>T ENST00000406451.4 + 23 3019 c.2869G>T c.(2869-2871)Gat>Tat p.D957Y HDAC9_ENST00000432645.2_Missense_Mutation_p.D957Y|HDAC9_ENST00000401921.1_Missense_Mutation_p.D916Y|HDAC9_ENST00000441542.2_Missense_Mutation_p.D960Y NM_178423.1 NP_848510.1 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 Histone deacetylase. B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) AGGAGGACATGATCTCACAGC 0.423 18 220 --- --- --- --- PCLO 27445 broad.mit.edu 37 7 82764231 82764231 + Missense_Mutation SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr7:82764231G>T ENST00000333891.9 - 3 2972 c.2635C>A c.(2635-2637)Cct>Act p.P879T PCLO_ENST00000423517.2_Missense_Mutation_p.P879T NM_033026.5 NP_149015.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 CGTGGGCCAGGGGGTGTTGGT 0.522 9 371 --- --- --- --- KRIT1 889 broad.mit.edu 37 7 91864869 91864869 + Missense_Mutation SNP G G A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr7:91864869G>A ENST00000394507.1 - 9 1360 c.577C>T c.(577-579)Cct>Tct p.P193S KRIT1_ENST00000340022.2_Missense_Mutation_p.P193S|KRIT1_ENST00000394505.2_Missense_Mutation_p.P193S|KRIT1_ENST00000412043.2_Missense_Mutation_p.P193S|KRIT1_ENST00000394503.2_Missense_Mutation_p.P193S NM_194456.1 NP_919438.1 O00522 KRIT1_HUMAN KRIT1, ankyrin repeat containing 193 angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction cell-cell junction|cytoskeleton protein binding|small GTPase regulator activity autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1) 22 all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) GCATATGCAGGATTTATGACA 0.393 7 103 --- --- --- --- COL1A2 1278 broad.mit.edu 37 7 94037158 94037158 + Splice_Site SNP G G A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr7:94037158G>A ENST00000297268.6 + 13 1065 c.e13-1 NM_000089.3 NP_000080.2 P08123 CO1A2_HUMAN collagen, type I, alpha 2 axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) TCTCCATGTAGGGTGAACCTG 0.323 HNSCC(75;0.22) 5 27 --- --- --- --- MCM7 4176 broad.mit.edu 37 7 99691010 99691010 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr7:99691010C>A ENST00000303887.5 - 14 2508 c.1863G>T c.(1861-1863)atG>atT p.M621I MCM7_ENST00000354230.3_Missense_Mutation_p.M445I|MCM7_ENST00000343023.6_Intron NM_005916.3 NP_005907.3 P33993 MCM7_HUMAN minichromosome maintenance complex component 7 621 Interaction with ATRIP. cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle chromatin|MCM complex ATP binding|protein binding endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1) 17 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) Atorvastatin(DB01076) CCACATCCACCATTCTCAGAC 0.537 6 175 --- --- --- --- MUC17 140453 broad.mit.edu 37 7 100683342 100683342 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr7:100683342C>A ENST00000306151.4 + 3 8709 c.8645C>A c.(8644-8646)gCc>gAc p.A2882D NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2882 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) ACGCCGGTGGCCAGTTCTGAG 0.483 10 463 --- --- --- --- GCC1 79571 broad.mit.edu 37 7 127225212 127225212 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr7:127225212C>A ENST00000321407.2 - 1 449 c.25G>T c.(25-27)Ggg>Tgg p.G9W GCC1_ENST00000497650.1_Intron NM_024523.5 NP_078799.2 Q96CN9 GCC1_HUMAN GRIP and coiled-coil domain containing 1 9 Golgi membrane|plasma membrane protein binding breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 GGGCCGCCCCCGAAATTCATC 0.592 OREG0003808 type=REGULATORY REGION|Gene=GCC1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 4 100 --- --- --- --- LRGUK 136332 broad.mit.edu 37 7 133812132 133812132 + Silent SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr7:133812132C>A ENST00000285928.2 + 1 81 c.12C>A c.(10-12)tcC>tcA p.S4S LRGUK_ENST00000473068.1_3'UTR NM_144648.1 NP_653249.1 Q96M69 LRGUK_HUMAN leucine-rich repeats and guanylate kinase domain containing 4 ATP binding|kinase activity p.S4S(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 49 TGGCGACCTCCGAGAGGGCTC 0.612 5 140 --- --- --- --- OR2A12 346525 broad.mit.edu 37 7 143793017 143793017 + Missense_Mutation SNP C C T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr7:143793017C>T ENST00000408949.2 + 1 877 c.817C>T c.(817-819)Ctt>Ttt p.L273F NM_001004135.1 NP_001004135.1 Q8NGT7 O2A12_HUMAN olfactory receptor, family 2, subfamily A, member 12 273 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2) 25 Melanoma(164;0.0783) GAGGAAGATCCTTTCCCTGTT 0.522 80 216 --- --- --- --- TMEM176A 55365 broad.mit.edu 37 7 150500857 150500857 + Silent SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr7:150500857C>A ENST00000484928.1 + 5 1073 c.492C>A c.(490-492)ccC>ccA p.P164P TMEM176A_ENST00000004103.3_Silent_p.P164P|TMEM176A_ENST00000461345.1_Silent_p.P105P Q96HP8 T176A_HUMAN transmembrane protein 176A 164 integral to membrane breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1) 12 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CTCCAGCCCCCACTCAGAGTC 0.537 5 87 --- --- --- --- TMUB1 83590 broad.mit.edu 37 7 150779390 150779390 + Silent SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr7:150779390C>A ENST00000392818.3 - 2 618 c.261G>T c.(259-261)acG>acT p.T87T TMUB1_ENST00000462940.1_Silent_p.T87T|TMUB1_ENST00000476627.1_Silent_p.T87T|TMUB1_ENST00000482202.1_Silent_p.T87T|TMUB1_ENST00000297533.4_Silent_p.T87T NM_031434.3 NP_113622.1 Q9BVT8 TMUB1_HUMAN transmembrane and ubiquitin-like domain containing 1 87 cytoplasm|integral to membrane|nucleus endometrium(1)|lung(1) 2 OV - Ovarian serous cystadenocarcinoma(82;0.00989) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CTGTGAACCCCGTGCTGGGCT 0.657 6 214 --- --- --- --- MFHAS1 9258 broad.mit.edu 37 8 8748567 8748567 + Nonsense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr8:8748567C>A ENST00000276282.6 - 1 2588 c.2002G>T c.(2002-2004)Gaa>Taa p.E668* NM_004225.2 NP_004216.2 Q9Y4C4 MFHA1_HUMAN malignant fibrous histiocytoma amplified sequence 1 668 endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1) 21 Hepatocellular(245;0.217) COAD - Colon adenocarcinoma(149;0.124) AAATGCAGTTCCTCCAGCACC 0.612 4 17 --- --- --- --- SORBS3 10174 broad.mit.edu 37 8 22423994 22423994 + Silent SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr8:22423994C>A ENST00000240123.7 + 13 1470 c.1087C>A c.(1087-1089)Cga>Aga p.R363R SORBS3_ENST00000428103.1_Silent_p.R21R|RP11-582J16.3_ENST00000517384.1_RNA|SORBS3_ENST00000523740.1_3'UTR NM_005775.4 NP_005766.3 O60504 VINEX_HUMAN sorbin and SH3 domain containing 3 363 muscle contraction|positive regulation of stress fiber assembly cytoskeleton|cytosol|nucleus protein binding|structural constituent of cytoskeleton|vinculin binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9) 18 Prostate(55;0.0421)|Breast(100;0.102) BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061) TTCCTCAACCCGAGGTAAGGA 0.612 5 56 --- --- --- --- ELP3 55140 broad.mit.edu 37 8 27957465 27957465 + Silent SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr8:27957465C>A ENST00000256398.8 + 3 617 c.240C>A c.(238-240)ccC>ccA p.P80P ELP3_ENST00000537665.1_5'UTR|ELP3_ENST00000521015.1_Silent_p.P66P|ELP3_ENST00000523760.1_3'UTR|ELP3_ENST00000524103.1_Silent_p.P8P|ELP3_ENST00000380353.4_Intron|ELP3_ENST00000542181.1_Intron NM_001284220.1|NM_001284226.1|NM_018091.5 NP_001271149.1|NP_001271155.1|NP_060561.3 Q9H9T3 ELP3_HUMAN elongator acetyltransferase complex subunit 3 80 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 Ovarian(32;0.0218) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183) AGGCGAAACCCATCAGAACTG 0.542 5 80 --- --- --- --- DUSP4 1846 broad.mit.edu 37 8 29207773 29207773 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr8:29207773C>A ENST00000240100.2 - 1 412 c.23G>T c.(22-24)cGg>cTg p.R8L NM_001394.6 NP_001385.1 Q13115 DUS4_HUMAN dual specificity phosphatase 4 8 endoderm formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|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 nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity endometrium(1)|large_intestine(1)|lung(4) 6 KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113) GTCCATCTCCCGCAGCTCCTC 0.701 4 63 --- --- --- --- GPR124 25960 broad.mit.edu 37 8 37690631 37690631 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr8:37690631C>A ENST00000315215.7 + 9 1564 c.1201C>A c.(1201-1203)Cgc>Agc p.R401S GPR124_ENST00000412232.2_Missense_Mutation_p.R401S Q96PE1 GP124_HUMAN G protein-coupled receptor 124 401 central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 37 BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) CCGAGCCTCCCGCCGGTGTGA 0.672 5 69 --- --- --- --- ZFHX4 79776 broad.mit.edu 37 8 77766823 77766823 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr8:77766823C>A ENST00000521891.2 + 10 8114 c.7666C>A c.(7666-7668)Ctc>Atc p.L2556I ZFHX4_ENST00000050961.6_Missense_Mutation_p.L2511I|ZFHX4_ENST00000518282.1_Missense_Mutation_p.L2530I|ZFHX4_ENST00000455469.2_Missense_Mutation_p.L2511I NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2511 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) GGGCAGTTCCCTCACTCAAAT 0.502 HNSCC(33;0.089) 5 96 --- --- --- --- DECR1 1666 broad.mit.edu 37 8 91029480 91029480 + Silent SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr8:91029480G>T ENST00000522161.1 + 4 854 c.171G>T c.(169-171)ggG>ggT p.G57G DECR1_ENST00000220764.2_Silent_p.G66G|DECR1_ENST00000519007.1_3'UTR Q16698 DECR_HUMAN 2,4-dienoyl CoA reductase 1, mitochondrial 66 fatty acid beta-oxidation|protein homotetramerization mitochondrial matrix|nucleus|plasma membrane 2,4-dienoyl-CoA reductase (NADPH) activity|NADPH binding|oxidoreductase activity, acting on NADH or NADPH breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 15 BRCA - Breast invasive adenocarcinoma(11;0.00953) TCATTACTGGGGGAGGTACTG 0.443 6 135 --- --- --- --- TRPS1 7227 broad.mit.edu 37 8 116599467 116599467 + Missense_Mutation SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr8:116599467G>T ENST00000395715.3 - 5 3038 c.2461C>A c.(2461-2463)Caa>Aaa p.Q821K TRPS1_ENST00000519076.1_Missense_Mutation_p.Q562K|TRPS1_ENST00000519674.1_Missense_Mutation_p.Q808K|TRPS1_ENST00000220888.5_Missense_Mutation_p.Q808K|TRPS1_ENST00000520276.1_Missense_Mutation_p.Q812K NM_001282902.1|NM_001282903.1|NM_014112.2 NP_001269831.1|NP_001269832.1|NP_054831.2 Q9UHF7 TRPS1_HUMAN trichorhinophalangeal syndrome I 808 negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 111 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) AGGCTTGCTTGGGTGTATGAC 0.587 Langer-Giedion syndrome 7 227 --- --- --- --- ZNF250 58500 broad.mit.edu 37 8 146108208 146108208 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr8:146108208C>A ENST00000292579.7 - 6 491 c.375G>T c.(373-375)aaG>aaT p.K125N ZNF250_ENST00000342660.6_Intron|ZNF250_ENST00000543949.1_Intron|ZNF250_ENST00000417550.2_Missense_Mutation_p.K120N NM_001109689.3|NM_021061.4 NP_001103159.1|NP_066405.1 P15622 ZN250_HUMAN zinc finger protein 250 125 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.K125N(1) endometrium(4)|kidney(2)|lung(8)|skin(1) 15 all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.0654) GACTCTCTCCCTTGGTTTCAC 0.403 6 176 --- --- --- --- MPDZ 8777 broad.mit.edu 37 9 13168532 13168532 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr9:13168532C>A ENST00000319217.7 - 22 3334 c.3087G>T c.(3085-3087)ttG>ttT p.L1029F MPDZ_ENST00000536827.1_Missense_Mutation_p.L1029F|MPDZ_ENST00000381015.4_Missense_Mutation_p.L1029F|MPDZ_ENST00000546205.1_Missense_Mutation_p.L1029F|MPDZ_ENST00000541718.1_Missense_Mutation_p.L1029F|MPDZ_ENST00000447879.1_Missense_Mutation_p.L1029F|MPDZ_ENST00000381022.2_Missense_Mutation_p.L1029F NM_001261406.1 NP_001248335.1 O75970 MPDZ_HUMAN multiple PDZ domain protein 1029 PDZ 6. interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2) 61 GBM - Glioblastoma multiforme(50;2.03e-06) CGATCATCCCCAAGCCATCTT 0.363 6 234 --- --- --- --- IFNA6 3443 broad.mit.edu 37 9 21350489 21350489 + Missense_Mutation SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr9:21350489G>T ENST00000380210.1 - 1 888 c.398C>A c.(397-399)cCc>cAc p.P133H NM_021002.2 NP_066282.1 P05013 IFNA6_HUMAN interferon, alpha 6 133 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|cytokine receptor binding large_intestine(3)|lung(7)|skin(1) 11 Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116) ATTCATCAGGGGAGTCCCTCC 0.498 8 293 --- --- --- --- TAF1L 138474 broad.mit.edu 37 9 32634292 32634292 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr9:32634292C>A ENST00000242310.4 - 1 1375 c.1286G>T c.(1285-1287)tGg>tTg p.W429L RP11-555J4.4_ENST00000430787.1_RNA NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 429 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) AGAATCCTCCCAATGCAGCTG 0.458 7 237 --- --- --- --- UBAP2 55833 broad.mit.edu 37 9 33924204 33924204 + Splice_Site SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr9:33924204C>A ENST00000379238.1 - 23 2707 c.2590G>T c.(2590-2592)Ggt>Tgt p.G864C UBAP2_ENST00000379235.1_Splice_Site_p.G103C|UBAP2_ENST00000360802.1_Splice_Site_p.G864C|UBAP2_ENST00000449054.1_Splice_Site_p.G864C|UBAP2_ENST00000379239.4_Splice_Site_p.G597C|UBAP2_ENST00000539807.1_Splice_Site_p.G619C Q5T6F2 UBAP2_HUMAN ubiquitin associated protein 2 864 endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1) 32 LUSC - Lung squamous cell carcinoma(29;0.00575) GBM - Glioblastoma multiforme(74;0.168) GCAAACTCACCTGGATATGGA 0.562 6 103 --- --- --- --- VCP 7415 broad.mit.edu 37 9 35068275 35068275 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr9:35068275C>A ENST00000358901.6 - 2 997 c.102G>T c.(100-102)gaG>gaT p.E34D NM_007126.3 NP_009057.1 P55072 TERA_HUMAN valosin containing protein 34 activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 24 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) CACTGTTGTCCTCATTGATGG 0.443 9 404 --- --- --- --- SPAG8 26206 broad.mit.edu 37 9 35810051 35810051 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr9:35810051C>A ENST00000484764.1 - 7 1358 c.1318G>T c.(1318-1320)Ggg>Tgg p.G440W SPAG8_ENST00000396638.2_Missense_Mutation_p.G448W|SPAG8_ENST00000479751.1_5'UTR|SPAG8_ENST00000340291.2_Intron Q99932 SPAG8_HUMAN sperm associated antigen 8 81 acrosomal vesicle|membrane NS(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 all_epithelial(49;0.161) LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194) AAAAGTTTCCCCAGAGACAAG 0.537 7 173 --- --- --- --- MAMDC2 256691 broad.mit.edu 37 9 72755164 72755164 + Missense_Mutation SNP A A T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr9:72755164A>T ENST00000377182.4 + 8 1715 c.1098A>T c.(1096-1098)aaA>aaT p.K366N MAMDC2-AS1_ENST00000591368.1_RNA NM_153267.4 NP_694999.3 Q7Z304 MAMC2_HUMAN MAM domain containing 2 366 MAM 3. endoplasmic reticulum|membrane breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1) 14 TGAAAGTAAAACCAAACATGT 0.463 7 127 --- --- --- --- VPS13A 23230 broad.mit.edu 37 9 79834914 79834914 + Silent SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr9:79834914C>A ENST00000360280.3 + 11 1059 c.799C>A c.(799-801)Cga>Aga p.R267R VPS13A_ENST00000376634.4_Silent_p.R267R|VPS13A_ENST00000357409.5_Silent_p.R267R|VPS13A_ENST00000376636.3_Silent_p.R267R NM_033305.2 NP_150648.2 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13 homolog A (S. cerevisiae) 267 Golgi to endosome transport|protein transport intracellular protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 GATGAATCGCCGATCTGATTT 0.313 5 119 --- --- --- --- COL15A1 1306 broad.mit.edu 37 9 101787171 101787171 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr9:101787171C>A ENST00000375001.3 + 15 2293 c.1870C>A c.(1870-1872)Cca>Aca p.P624T NM_001855.3 NP_001846.3 P39059 COFA1_HUMAN collagen, type XV, alpha 1 624 Triple-helical region 2 (COL2). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 107 Acute lymphoblastic leukemia(62;0.0562) TCCAGGACCCCCAGGGCCACC 0.507 5 70 --- --- --- --- RNF20 56254 broad.mit.edu 37 9 104313041 104313041 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr9:104313041C>A ENST00000389120.3 + 10 1336 c.1246C>A c.(1246-1248)Cac>Aac p.H416N NM_019592.5 NP_062538.5 Q5VTR2 BRE1A_HUMAN ring finger protein 20, E3 ubiquitin protein ligase 416 histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process nucleolus|ubiquitin ligase complex histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding p.H416N(1) breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311) CAGAGGAACCCACCAGCACCA 0.463 6 199 --- --- --- --- ZNF462 58499 broad.mit.edu 37 9 109688260 109688260 + Silent SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr9:109688260C>A ENST00000277225.5 + 3 2356 c.2067C>A c.(2065-2067)ccC>ccA p.P689P ZNF462_ENST00000457913.1_Silent_p.P689P Q96JM2 ZN462_HUMAN zinc finger protein 462 689 transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.P689P(1) NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 ATTTGTCACCCGTGAAGAAGA 0.433 8 248 --- --- --- --- ZNF462 58499 broad.mit.edu 37 9 109689354 109689354 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr9:109689354C>A ENST00000277225.5 + 3 3450 c.3161C>A c.(3160-3162)cCc>cAc p.P1054H ZNF462_ENST00000457913.1_Missense_Mutation_p.P1054H Q96JM2 ZN462_HUMAN zinc finger protein 462 1054 transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 AAGAAACACCCCGAAGAAAAG 0.443 7 188 --- --- --- --- SPTAN1 6709 broad.mit.edu 37 9 131356647 131356647 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr9:131356647C>A ENST00000358161.5 + 24 3522 c.3409C>A c.(3409-3411)Cag>Aag p.Q1137K SPTAN1_ENST00000475367.1_3'UTR|SPTAN1_ENST00000372739.3_Missense_Mutation_p.Q1137K|SPTAN1_ENST00000372731.4_Missense_Mutation_p.Q1137K Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 1137 actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 87 TGATGACTTCCAGAAGGTATG 0.418 4 51 --- --- --- --- KCNT1 57582 broad.mit.edu 37 9 138683669 138683669 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr9:138683669C>A ENST00000298480.5 + 31 3666 c.3592C>A c.(3592-3594)Ctc>Atc p.L1198I KCNT1_ENST00000263604.3_Missense_Mutation_p.L1172I|KCNT1_ENST00000486577.2_Missense_Mutation_p.L1155I|KCNT1_ENST00000490355.2_Missense_Mutation_p.L1176I|KCNT1_ENST00000488444.2_Missense_Mutation_p.L1177I|KCNT1_ENST00000491806.2_Missense_Mutation_p.L1163I|KCNT1_ENST00000487664.1_Missense_Mutation_p.L1153I|KCNT1_ENST00000371757.2_Missense_Mutation_p.L1177I B7ZVY4 B7ZVY4_HUMAN potassium channel, subfamily T, member 1 1177 membrane binding|calcium-activated potassium channel activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05) CCAGAACACCCTCTCCTACGT 0.647 6 103 --- --- --- --- CCNY 219771 broad.mit.edu 37 10 35854950 35854950 + Splice_Site SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr10:35854950G>T ENST00000374704.4 + 9 926 c.e9-1 CCNY_ENST00000339497.5_Splice_Site|CCNY_ENST00000265375.9_Splice_Site|CCNY_ENST00000374706.1_Splice_Site NM_145012.4 NP_659449.3 Q8ND76 CCNY_HUMAN cyclin Y cell division|G2/M transition of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane cyclin-dependent protein kinase regulator activity|protein kinase binding cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1) 8 TTGCTTTGCAGGAACGAGCTA 0.473 6 101 --- --- --- --- STOX1 219736 broad.mit.edu 37 10 70641864 70641864 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr10:70641864C>A ENST00000298596.6 + 2 544 c.461C>A c.(460-462)cCa>cAa p.P154Q STOX1_ENST00000399169.4_Missense_Mutation_p.P154Q|STOX1_ENST00000399162.2_Missense_Mutation_p.P154Q|STOX1_ENST00000399165.4_Missense_Mutation_p.P154Q|STOX1_ENST00000421961.2_Missense_Mutation_p.P44Q NM_152709.4 NP_689922.3 Q6ZVD7 STOX1_HUMAN storkhead box 1 154 cytoplasm|nucleolus DNA binding breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3) 28 AAACATTACCCAGGTAGAGTA 0.343 5 89 --- --- --- --- CDH23 64072 broad.mit.edu 37 10 73571187 73571187 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr10:73571187C>A ENST00000224721.6 + 62 9213 c.9208C>A c.(9208-9210)Ctg>Atg p.L3070M CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Missense_Mutation_p.L825M NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 3065 calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 CATGTCTGCCCTGCAGGTACC 0.642 5 49 --- --- --- --- TTC18 118491 broad.mit.edu 37 10 75104886 75104886 + Silent SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr10:75104886G>T ENST00000310715.3 - 6 666 c.546C>A c.(544-546)tcC>tcA p.S182S TTC18_ENST00000340329.3_Silent_p.S182S|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000401621.2_Silent_p.S182S|TTC18_ENST00000394865.1_Silent_p.S182S|TTC18_ENST00000493787.1_5'UTR NM_145170.3 NP_660153.3 Q5T0N1 TTC18_HUMAN tetratricopeptide repeat domain 18 182 binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Prostate(51;0.0119) TTGGAATGAAGGATTCAGGCA 0.478 8 231 --- --- --- --- ZMIZ1 57178 broad.mit.edu 37 10 81070925 81070925 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr10:81070925C>A ENST00000334512.5 + 24 3652 c.3080C>A c.(3079-3081)cCg>cAg p.P1027Q ZMIZ1_ENST00000446377.2_Intron NM_020338.3 NP_065071.1 Q9ULJ6 ZMIZ1_HUMAN zinc finger, MIZ-type containing 1 1027 transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1) 30 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) TCCGACATGCCGGAGCCTTCG 0.677 5 124 --- --- --- --- FAS 355 broad.mit.edu 37 10 90768686 90768686 + Silent SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr10:90768686C>A ENST00000355740.2 + 4 595 c.375C>A c.(373-375)acC>acA p.T125T FAS_ENST00000313771.5_3'UTR|FAS_ENST00000352159.4_Silent_p.T125T|FAS_ENST00000355279.2_Silent_p.T125T|FAS_ENST00000357339.2_Silent_p.T125T NM_000043.4|NM_152871.2|NM_152872.2 NP_000034.1|NP_690610.1|NP_690611.1 P25445 TNR6_HUMAN Fas cell surface death receptor 125 activation of caspase activity|activation of pro-apoptotic gene products|anti-apoptosis|cellular response to mechanical stimulus|positive regulation of necrotic cell death cytosol|extracellular region|integral to membrane|soluble fraction identical protein binding|kinase binding breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2) 18 Colorectal(252;0.0161) Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193) CCCAGAATACCAAGTGCAGAT 0.363 9 545 --- --- --- --- CEP55 55165 broad.mit.edu 37 10 95259849 95259849 + Missense_Mutation SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr10:95259849G>T ENST00000371485.3 + 2 345 c.41G>T c.(40-42)tGg>tTg p.W14L NM_001127182.1|NM_018131.4 NP_001120654|NP_060601 Q53EZ4 CEP55_HUMAN centrosomal protein 55kDa 14 cell division|mitosis centriole|cleavage furrow|midbody kidney(1)|large_intestine(5)|lung(6)|stomach(1) 13 Colorectal(252;0.207) AAAAGTAAGTGGGGATCGAAG 0.318 7 242 --- --- --- --- CC2D2B 387707 broad.mit.edu 37 10 97791669 97791669 + Silent SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr10:97791669C>A ENST00000344386.3 + 9 1037 c.873C>A c.(871-873)ccC>ccA p.P291P ENTPD1-AS1_ENST00000416301.1_RNA|CC2D2B_ENST00000410012.2_Silent_p.P370P|RP11-690P14.4_ENST00000475252.2_3'UTR|ENTPD1-AS1_ENST00000452728.1_RNA|ENTPD1-AS1_ENST00000449197.1_RNA|ENTPD1-AS1_ENST00000451364.1_RNA|CC2D2B_ENST00000371198.2_3'UTR|ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000458228.1_RNA NM_001001732.3 NP_001001732.2 Q6DHV5 C2D2B_HUMAN coiled-coil and C2 domain containing 2B 291 large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1) 10 Colorectal(252;0.158) Epithelial(162;7.08e-08)|all cancers(201;2.71e-06) CTGAATTTCCCCAGACAGAAT 0.393 6 121 --- --- --- --- CNNM1 26507 broad.mit.edu 37 10 101120619 101120619 + Missense_Mutation SNP C C A rs150442293 TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr10:101120619C>A ENST00000356713.4 + 3 2034 c.1745C>A c.(1744-1746)cCg>cAg p.P582Q CNNM1_ENST00000446890.1_Missense_Mutation_p.P511Q|CNNM1_ENST00000370534.4_Missense_Mutation_p.P217Q|CNNM1_ENST00000370528.3_Missense_Mutation_p.P511Q NM_020348.2 NP_065081.2 Q9NRU3 CNNM1_HUMAN cyclin M1 582 ion transport integral to membrane|plasma membrane NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1) 25 Colorectal(252;0.234) Epithelial(162;6.82e-10)|all cancers(201;5.62e-08) CAGAGGGTCCCGCAACGGGAG 0.527 5 216 --- --- --- --- PPRC1 23082 broad.mit.edu 37 10 103897727 103897727 + Missense_Mutation SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr10:103897727G>T ENST00000278070.2 + 2 313 c.274G>T c.(274-276)Ggg>Tgg p.G92W PPRC1_ENST00000413464.2_Missense_Mutation_p.G92W NM_015062.3 NP_055877.3 Q5VV67 PPRC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator-related 1 92 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 56 Colorectal(252;0.122) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) GACACTGCTGGGGACCATGCA 0.547 5 60 --- --- --- --- PSD 5662 broad.mit.edu 37 10 104165148 104165148 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr10:104165148C>A ENST00000020673.5 - 12 2807 c.2281G>T c.(2281-2283)Ggg>Tgg p.G761W PSD_ENST00000406432.1_Missense_Mutation_p.G761W NM_001270966.1|NM_002779.4 NP_001257895.1|NP_002770.3 A5PKW4 PSD1_HUMAN pleckstrin and Sec7 domain containing 761 PH. regulation of ARF protein signal transduction cytoplasm|plasma membrane|ruffle ARF guanyl-nucleotide exchange factor activity|signal transducer activity breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Epithelial(162;1.27e-08)|all cancers(201;2.85e-07) ACCAGGGCCCCGTGCTTGTAG 0.662 7 188 --- --- --- --- COL17A1 1308 broad.mit.edu 37 10 105815721 105815721 + Silent SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr10:105815721C>A ENST00000353479.5 - 18 1796 c.1506G>T c.(1504-1506)ctG>ctT p.L502L COL17A1_ENST00000480127.1_5'UTR|COL17A1_ENST00000369733.3_Silent_p.L502L NM_000494.3 NP_000485.3 Q9UMD9 COHA1_HUMAN collagen, type XVII, alpha 1 502 Nonhelical region (NC16). cell-matrix adhesion|epidermis development|hemidesmosome assembly basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane protein binding NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 62 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) TGATCCTCTCCAGCTCATCCA 0.602 6 159 --- --- --- --- CTBP2 1488 broad.mit.edu 37 10 126714705 126714705 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr10:126714705C>A ENST00000309035.6 - 1 1754 c.1624G>T c.(1624-1626)Gcc>Tcc p.A542S CTBP2_ENST00000411419.2_Intron|CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000337195.5_Intron|CTBP2_ENST00000531469.1_Intron NM_022802.2 NP_073713.2 P56545 CTBP2_HUMAN C-terminal binding protein 2 0 negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation cell junction|synapse|transcriptional repressor complex NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173) Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147) GTGCGCCGGGCCACCTTCTGG 0.682 7 156 --- --- --- --- KRTAP5-6 440023 broad.mit.edu 37 11 1718821 1718821 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr11:1718821C>A ENST00000382160.1 + 1 397 c.346C>A c.(346-348)Cag>Aag p.Q116K NM_001012416.1 NP_001012416.1 Q6L8G9 KRA56_HUMAN keratin associated protein 5-6 116 keratin filament endometrium(1)|large_intestine(2)|lung(6)|skin(1) 10 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) CTGCTGTTCCCAGGCCAGCTG 0.577 6 191 --- --- --- --- OR10A6 390093 broad.mit.edu 37 11 7950138 7950138 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr11:7950138C>A ENST00000309838.2 - 1 71 c.72G>T c.(70-72)caG>caT p.Q24H NM_001004461.1 NP_001004461.1 Q8NH74 O10A6_HUMAN olfactory receptor, family 10, subfamily A, member 6 24 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 22 Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) AGAGCTGCCCCTGGAGCTCAG 0.433 5 73 --- --- --- --- RIC3 79608 broad.mit.edu 37 11 8159831 8159831 + Missense_Mutation SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr11:8159831G>T ENST00000343202.4 - 3 480 c.415C>A c.(415-417)Cac>Aac p.H139N RIC3_ENST00000309737.6_Missense_Mutation_p.H139N|RIC3_ENST00000425599.2_Missense_Mutation_p.H139N|RIC3_ENST00000530060.1_5'UTR|RIC3_ENST00000539720.1_Missense_Mutation_p.H90N|RIC3_ENST00000335425.7_Intron NM_001206671.2|NM_024557.4 NP_001193600.1|NP_078833.3 Q7Z5B4 RIC3_HUMAN RIC3 acetylcholine receptor chaperone 139 endoplasmic reticulum membrane|Golgi membrane|integral to membrane p.H139N(1) breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1) 17 Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204) ATTTTCCTGTGGGTGTTTCCA 0.433 7 310 --- --- --- --- SBF2 81846 broad.mit.edu 37 11 9878189 9878189 + Missense_Mutation SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr11:9878189G>T ENST00000256190.8 - 19 2316 c.2179C>A c.(2179-2181)Ctg>Atg p.L727M RP11-1H15.2_ENST00000533659.1_RNA NM_030962.3 NP_112224.1 Q86WG5 MTMRD_HUMAN SET binding factor 2 727 myelination cytoplasm|membrane phosphatase activity|protein binding breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887) GACTTGCTCAGGGTAGGCCAA 0.463 8 301 --- --- --- --- KIAA1549L 25758 broad.mit.edu 37 11 33564582 33564582 + Silent SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr11:33564582C>A ENST00000321505.4 + 1 762 c.582C>A c.(580-582)ccC>ccA p.P194P KIAA1549L_ENST00000265654.5_Silent_p.P194P|KIAA1549L_ENST00000389726.3_Silent_p.P194P KIAA1549-like GGGCGGTTCCCGCATCACCAT 0.562 OREG0020868 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 192 --- --- --- --- EXT2 2132 broad.mit.edu 37 11 44165856 44165856 + Silent SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr11:44165856C>A ENST00000358681.4 + 8 1399 c.1233C>A c.(1231-1233)tcC>tcA p.S411S EXT2_ENST00000533608.1_Intron|EXT2_ENST00000395673.3_Intron|EXT2_ENST00000343631.3_Intron NM_001178083.1 NP_001171554.1 Q93063 EXT2_HUMAN exostosin glycosyltransferase 2 405 glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 32 AAATGAACTCCCTGATCTGGC 0.478 """Mis, N, F, S""" """exostoses, osteosarcoma""" Hereditary Multiple Exostoses 7 136 --- --- --- --- MTCH2 23788 broad.mit.edu 37 11 47657103 47657103 + Translation_Start_Site SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr11:47657103C>A ENST00000542981.1 - 0 368 MTCH2_ENST00000302503.3_Missense_Mutation_p.K100N Q9Y6C9 MTCH2_HUMAN mitochondrial carrier 2 transport integral to membrane|mitochondrial inner membrane endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 11 ATACCTCACCCTTGTCACTCT 0.403 5 72 --- --- --- --- CD6 923 broad.mit.edu 37 11 60785403 60785403 + Silent SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr11:60785403C>A ENST00000313421.7 + 11 1941 c.1755C>A c.(1753-1755)ccC>ccA p.P585P CD6_ENST00000344028.5_Silent_p.P553P|CD6_ENST00000352009.5_Silent_p.P553P|CD6_ENST00000452451.2_Silent_p.P544P|CD6_ENST00000346437.4_Silent_p.P512P NM_006725.4 NP_006716.3 P30203 CD6_HUMAN CD6 molecule 585 cell adhesion cell surface|integral to plasma membrane scavenger receptor activity endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1) 18 CATGGAACCCCCAGGTGTTTT 0.582 6 112 --- --- --- --- AHNAK 79026 broad.mit.edu 37 11 62287973 62287973 + Missense_Mutation SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr11:62287973G>T ENST00000378024.4 - 5 14190 c.13916C>A c.(13915-13917)cCa>cAa p.P4639Q AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 4639 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) GTCCACATCTGGGACATCAAT 0.537 8 314 --- --- --- --- AHNAK 79026 broad.mit.edu 37 11 62299931 62299931 + Missense_Mutation SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr11:62299931G>T ENST00000378024.4 - 5 2232 c.1958C>A c.(1957-1959)cCc>cAc p.P653H AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 653 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) ATCTCCTTTGGGTAGAGTCAT 0.502 7 189 --- --- --- --- SLC3A2 6520 broad.mit.edu 37 11 62649502 62649502 + Missense_Mutation SNP G G A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr11:62649502G>A ENST00000377892.1 + 6 1182 c.958G>A c.(958-960)Gat>Aat p.D320N SLC3A2_ENST00000535296.1_Missense_Mutation_p.D258N|SLC3A2_ENST00000377891.2_Missense_Mutation_p.D290N|SLC3A2_ENST00000536981.1_5'UTR|SLC3A2_ENST00000538682.1_3'UTR|SLC3A2_ENST00000377889.2_Missense_Mutation_p.D227N|SLC3A2_ENST00000377890.2_Missense_Mutation_p.D289N|SLC3A2_ENST00000338663.7_Missense_Mutation_p.D188N P08195 4F2_HUMAN solute carrier family 3 (amino acid transporter heavy chain), member 2 289 S -> F (in Ref. 5; AAA35489). blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport apical plasma membrane|cell surface|integral to membrane|melanosome calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2) 22 CTCCAAGGAAGATTTTGACAG 0.488 19 65 --- --- --- --- SF1 7536 broad.mit.edu 37 11 64537847 64537847 + Translation_Start_Site SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr11:64537847C>A ENST00000422298.2 - 0 570 SF1_ENST00000227503.9_Missense_Mutation_p.E90D|SF1_ENST00000334944.5_Missense_Mutation_p.E90D|SF1_ENST00000433274.2_Missense_Mutation_p.E64D|SF1_ENST00000377387.1_Missense_Mutation_p.E215D|SF1_ENST00000377390.3_Missense_Mutation_p.E90D|SF1_ENST00000377394.3_Missense_Mutation_p.E90D Q15637 SF01_HUMAN splicing factor 1 nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent ribosome|spliceosomal complex protein binding|RNA binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2) 31 GCCGCTTCCCCTCGCTATTGT 0.532 6 108 --- --- --- --- C11orf30 56946 broad.mit.edu 37 11 76169379 76169379 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr11:76169379C>A ENST00000529032.1 + 4 398 c.398C>A c.(397-399)cCt>cAt p.P133H C11orf30_ENST00000525038.1_Missense_Mutation_p.P147H|C11orf30_ENST00000343878.3_Missense_Mutation_p.P133H|C11orf30_ENST00000533248.1_Missense_Mutation_p.P147H|C11orf30_ENST00000525919.1_Missense_Mutation_p.P133H|C11orf30_ENST00000524767.1_Missense_Mutation_p.P147H|C11orf30_ENST00000334736.3_Missense_Mutation_p.P133H|C11orf30_ENST00000524490.1_Missense_Mutation_p.P133H Q7Z589 EMSY_HUMAN chromosome 11 open reading frame 30 133 Interaction with BRCA2. chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2) 60 CTTCCAGTGCCTGCAGAAACA 0.423 5 79 --- --- --- --- PAK1 5058 broad.mit.edu 37 11 77051799 77051799 + Silent SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr11:77051799C>A ENST00000356341.3 - 11 1539 c.1008G>T c.(1006-1008)gtG>gtT p.V336V PAK1_ENST00000530617.1_Silent_p.V336V|PAK1_ENST00000278568.4_Silent_p.V336V|PAK1_ENST00000525542.1_5'UTR|PAK1_ENST00000528203.1_Silent_p.V238V NM_002576.4 NP_002567.3 Q13153 PAK1_HUMAN p21 protein (Cdc42/Rac)-activated kinase 1 336 Protein kinase. apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway cytosol|focal adhesion|Golgi apparatus ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1) 29 all_cancers(14;1.75e-18) GCTCATCTCCCACGAGGTAAC 0.468 7 253 --- --- --- --- CCDC81 60494 broad.mit.edu 37 11 86086224 86086224 + Translation_Start_Site SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr11:86086224C>A ENST00000278487.3 + 0 447 CCDC81_ENST00000354755.1_Missense_Mutation_p.R7S|CCDC81_ENST00000445632.2_Missense_Mutation_p.R7S Q6ZN84 CCD81_HUMAN coiled-coil domain containing 81 kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 20 Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535) TACGATCGCCCGTGCCCTGCA 0.547 7 234 --- --- --- --- MMP10 4319 broad.mit.edu 37 11 102647391 102647391 + Missense_Mutation SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr11:102647391G>T ENST00000279441.4 - 5 775 c.739C>A c.(739-741)Cag>Aag p.Q247K NM_002425.2 NP_002416.1 P09238 MMP10_HUMAN matrix metallopeptidase 10 (stromelysin 2) 247 collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6) 22 all_epithelial(12;0.00961) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0145) AGGCGGAACTGGGCGAGCTCT 0.498 7 106 --- --- --- --- ACAT1 38 broad.mit.edu 37 11 108017036 108017036 + Silent SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr11:108017036C>A ENST00000265838.4 + 11 1204 c.1113C>A c.(1111-1113)ccC>ccA p.P371P NM_000019.3 NP_000010.1 P24752 THIL_HUMAN acetyl-CoA acetyltransferase 1 371 acetoacetic acid biosynthetic process|branched chain family amino acid catabolic process|ketone body biosynthetic process|ketone body catabolic process mitochondrial matrix acetyl-CoA C-acetyltransferase activity|metal ion binding endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|prostate(2) 10 all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) BRCA - Breast invasive adenocarcinoma(274;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192) Sulfasalazine(DB00795) AGATTGATCCCCAAAAAGTGA 0.363 7 163 --- --- --- --- SIK2 23235 broad.mit.edu 37 11 111591264 111591264 + Missense_Mutation SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr11:111591264G>T ENST00000304987.3 + 11 1731 c.1558G>T c.(1558-1560)Ggg>Tgg p.G520W SIK2_ENST00000533868.1_3'UTR NM_015191.1 NP_056006.1 Q9H0K1 SIK2_HUMAN salt-inducible kinase 2 520 intracellular protein kinase cascade|regulation of insulin receptor signaling pathway Golgi apparatus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 30 GTATGATATGGGGTCTGTTCA 0.453 6 92 --- --- --- --- DSCAML1 57453 broad.mit.edu 37 11 117310573 117310573 + Silent SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr11:117310573C>A ENST00000321322.6 - 22 4123 c.4122G>T c.(4120-4122)gtG>gtT p.V1374V DSCAML1_ENST00000527706.1_Silent_p.V1104V NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 1314 Ig-like C2-type 10. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) CTGGATCTCCCACTGAATTGC 0.562 7 183 --- --- --- --- OAF 220323 broad.mit.edu 37 11 120096400 120096400 + Missense_Mutation SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr11:120096400G>T ENST00000328965.4 + 2 775 c.262G>T c.(262-264)Ggg>Tgg p.G88W OAF_ENST00000531220.1_Intron NM_178507.2 NP_848602.1 Q86UD1 OAF_HUMAN OAF homolog (Drosophila) 88 kidney(1)|lung(5) 6 Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;5.1e-06) CCTGATCCTGGGGGAGCTGGA 0.627 5 98 --- --- --- --- GRIK4 2900 broad.mit.edu 37 11 120776122 120776122 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr11:120776122C>A ENST00000527524.2 + 13 1683 c.1396C>A c.(1396-1398)Cgc>Agc p.R466S GRIK4_ENST00000438375.2_Missense_Mutation_p.R466S NM_001282470.1 NP_001269399.1 Q16099 GRIK4_HUMAN glutamate receptor, ionotropic, kainate 4 466 glutamate signaling pathway|synaptic transmission cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 69 Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21) BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116) L-Glutamic Acid(DB00142) CTACAAGATCCGCCTGGTTGG 0.592 6 193 --- --- --- --- PATE1 160065 broad.mit.edu 37 11 125617637 125617637 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr11:125617637C>A ENST00000305738.5 + 4 179 c.167C>A c.(166-168)cCa>cAa p.P56Q PATE1_ENST00000437148.2_Missense_Mutation_p.P44Q NM_138294.2 NP_612151.1 Q8WXA2 PATE1_HUMAN prostate and testis expressed 1 56 extracellular region large_intestine(1)|lung(5) 6 CTCCAGTTCCCAGGAGAAAAG 0.478 6 86 --- --- --- --- SRPR 6734 broad.mit.edu 37 11 126135967 126135967 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr11:126135967C>A ENST00000332118.6 - 8 1096 c.942G>T c.(940-942)aaG>aaT p.K314N SRPR_ENST00000532259.1_Missense_Mutation_p.K286N NM_003139.3 NP_003130.2 P08240 SRPR_HUMAN signal recognition particle receptor (docking protein) 314 SRP-dependent cotranslational protein targeting to membrane integral to membrane|signal recognition particle receptor complex GTP binding|GTPase activity|receptor activity|signal recognition particle binding endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1) 21 all_hematologic(175;0.145) BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736) CCAGTGTTCCCTTGGTCGCAC 0.493 7 188 --- --- --- --- APLP2 334 broad.mit.edu 37 11 130013260 130013260 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr11:130013260C>A ENST00000263574.5 + 18 2281 c.2209C>A c.(2209-2211)Cca>Aca p.P737T APLP2_ENST00000543137.1_Missense_Mutation_p.P632T|APLP2_ENST00000338167.5_Missense_Mutation_p.P725T|APLP2_ENST00000539648.1_Missense_Mutation_p.P525T|APLP2_ENST00000278756.7_Missense_Mutation_p.P735T|APLP2_ENST00000345598.5_Missense_Mutation_p.P496T|APLP2_ENST00000528499.1_Missense_Mutation_p.P669T NM_001642.2 NP_001633.1 Q06481 APLP2_HUMAN amyloid beta (A4) precursor-like protein 2 737 G-protein coupled receptor protein signaling pathway integral to membrane|nucleus|plasma membrane DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_hematologic(175;0.0429) Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24) AATGCTCACCCCAGAAGAGCG 0.542 6 101 --- --- --- --- VWF 7450 broad.mit.edu 37 12 6204639 6204639 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr12:6204639C>A ENST00000261405.5 - 6 898 c.644G>T c.(643-645)gGg>gTg p.G215V VWF_ENST00000572068.1_Missense_Mutation_p.G252V NM_000552.3 NP_000543 P04275 VWF_HUMAN von Willebrand factor 215 VWFD 1. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) CTGCATTTCCCCAGAGGAGAT 0.527 7 111 --- --- --- --- NCAPD2 9918 broad.mit.edu 37 12 6637434 6637434 + Missense_Mutation SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr12:6637434G>T ENST00000315579.5 + 25 4038 c.3239G>T c.(3238-3240)gGg>gTg p.G1080V NCAPD2_ENST00000545962.1_Missense_Mutation_p.G1035V NM_014865.3 NP_055680.3 Q15021 CND1_HUMAN non-SMC condensin I complex, subunit D2 1080 cell division|mitotic chromosome condensation condensin core heterodimer|cytoplasm histone binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 48 GTTGCCACTGGGGATCTGGCC 0.557 7 199 --- --- --- --- CLSTN3 9746 broad.mit.edu 37 12 7293956 7293956 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr12:7293956C>A ENST00000537408.1 + 8 2016 c.1478C>A c.(1477-1479)cCa>cAa p.P493Q CLSTN3_ENST00000266546.6_Missense_Mutation_p.P481Q Q9BQT9 CSTN3_HUMAN calsyntenin 3 481 homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1) 33 CTCATCCACCCACCCCGAAGG 0.572 OREG0021650 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 155 --- --- --- --- ABCC9 10060 broad.mit.edu 37 12 21965074 21965074 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr12:21965074C>A ENST00000261200.4 - 34 4119 c.4120G>T c.(4120-4122)Ggg>Tgg p.G1374W ABCC9_ENST00000261201.4_Missense_Mutation_p.G1374W|ABCC9_ENST00000345162.2_Missense_Mutation_p.G1338W NM_020297.2 NP_064693.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 1374 ABC transporter 2. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) ATGTCTATCCCATCAATGACA 0.328 5 111 --- --- --- --- NELL2 4753 broad.mit.edu 37 12 45269642 45269642 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr12:45269642C>A ENST00000429094.2 - 1 515 c.11G>T c.(10-12)cGg>cTg p.R4L NELL2_ENST00000549027.1_5'UTR|NELL2_ENST00000333837.4_Missense_Mutation_p.R27L|NELL2_ENST00000437801.2_Missense_Mutation_p.R54L|NELL2_ENST00000548826.1_Missense_Mutation_p.R4L|NELL2_ENST00000551601.1_5'UTR|NELL2_ENST00000452445.2_Missense_Mutation_p.R4L NM_001145108.1 NP_001138580.1 Q99435 NELL2_HUMAN NEL-like 2 (chicken) 4 cell adhesion extracellular region calcium ion binding|protein binding|structural molecule activity p.R4Q(1)|p.R54Q(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 Lung SC(27;0.192) Lung NSC(34;0.144) GBM - Glioblastoma multiforme(48;0.092) CAGTAAGACCCGAGACTCCAT 0.517 5 126 --- --- --- --- GPR84 53831 broad.mit.edu 37 12 54756831 54756831 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr12:54756831C>A ENST00000551809.1 - 1 1440 c.805G>T c.(805-807)Ggg>Tgg p.G269W RP11-753H16.3_ENST00000550474.1_RNA|GPR84_ENST00000267015.3_Missense_Mutation_p.G269W|RP11-753H16.5_ENST00000552785.1_RNA Q9NQS5 GPR84_HUMAN G protein-coupled receptor 84 269 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1) 18 GATGAGTCCCCTTCCAGGGTC 0.547 7 225 --- --- --- --- BAZ2A 11176 broad.mit.edu 37 12 56995493 56995493 + Missense_Mutation SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr12:56995493G>T ENST00000179765.5 - 21 4017 c.3818C>A c.(3817-3819)cCg>cAg p.P1273Q BAZ2A_ENST00000379441.3_Missense_Mutation_p.P1275Q|BAZ2A_ENST00000551812.1_Missense_Mutation_p.P1305Q|BAZ2A_ENST00000549884.1_Missense_Mutation_p.P1303Q Q9UIF9 BAZ2A_HUMAN bromodomain adjacent to zinc finger domain, 2A 1305 Glu-rich. chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent chromatin silencing complex|nucleolus|rDNA heterochromatin DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1) 31 TGGCTCCTCCGGGGGTTGTGA 0.582 6 213 --- --- --- --- NAB2 4665 broad.mit.edu 37 12 57485187 57485187 + Silent SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr12:57485187C>A ENST00000300131.3 + 2 741 c.363C>A c.(361-363)ccC>ccA p.P121P NAB2_ENST00000342556.6_Silent_p.P121P|NAB2_ENST00000554718.1_3'UTR|NAB2_ENST00000357680.4_Silent_p.P121P NM_005967.3 NP_005958.1 Q15742 NAB2_HUMAN NGFI-A binding protein 2 (EGR1 binding protein 2) 121 cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent nucleus transcription corepressor activity p.P121P(2) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 20 CTGCTGTTCCCGTCTCCAGCA 0.617 6 158 --- --- --- --- MARS 4141 broad.mit.edu 37 12 57881902 57881902 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr12:57881902C>A ENST00000262027.5 + 1 163 c.29C>A c.(28-30)cCg>cAg p.P10Q ARHGAP9_ENST00000550288.1_Intron|MARS_ENST00000447721.2_3'UTR|ARHGAP9_ENST00000393797.2_Intron|MARS_ENST00000315473.5_5'UTR NM_004990.3 NP_004981.2 P56192 SYMC_HUMAN methionyl-tRNA synthetase 10 methionyl-tRNA aminoacylation cytosol ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1) 33 GBM - Glioblastoma multiforme(3;4.27e-41) L-Methionine(DB00134) GATGGCGTCCCGGGTTGCTTG 0.662 6 186 --- --- --- --- SLC26A10 65012 broad.mit.edu 37 12 58014048 58014048 + Silent SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr12:58014048G>T ENST00000379218.2 + 1 356 c.45G>T c.(43-45)ctG>ctT p.L15L SLC26A10_ENST00000320442.4_Silent_p.L15L Q8NG04 S2610_HUMAN solute carrier family 26, member 10 15 integral to membrane antiporter activity p.G16*(2) NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7) 19 Melanoma(17;0.122) CTAAGAGTCTGGGAAGTGCAT 0.532 7 274 --- --- --- --- ZFC3H1 196441 broad.mit.edu 37 12 72056881 72056881 + Silent SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr12:72056881C>A ENST00000378743.3 - 1 868 c.510G>T c.(508-510)ccG>ccT p.P170P ZFC3H1_ENST00000552037.1_Silent_p.P170P|THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000548100.1_Silent_p.P170P|ZFC3H1_ENST00000549407.1_5'UTR NM_144982.4 NP_659419.3 O60293 ZC3H1_HUMAN zinc finger, C3H1-type containing 170 RNA processing intracellular metal ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 GTCTGCACCCCGGCTTGCCTC 0.657 6 182 --- --- --- --- WSB2 55884 broad.mit.edu 37 12 118490251 118490251 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr12:118490251C>A ENST00000315436.3 - 2 187 c.46G>T c.(46-48)Ggg>Tgg p.G16W WSB2_ENST00000536738.1_5'UTR|WSB2_ENST00000544233.1_5'UTR|WSB2_ENST00000535496.1_Missense_Mutation_p.G18W|WSB2_ENST00000441406.2_Missense_Mutation_p.G33W NM_001278557.1|NM_018639.3 NP_001265486.1|NP_061109.1 Q9NYS7 WSB2_HUMAN WD repeat and SOCS box containing 2 16 intracellular signal transduction breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 17 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TGGGGGCGCCCGGGCTTGAGT 0.592 5 165 --- --- --- --- POLE 5426 broad.mit.edu 37 12 133220064 133220064 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr12:133220064C>A ENST00000320574.5 - 34 4416 c.4373G>T c.(4372-4374)tGg>tTg p.W1458L POLE_ENST00000535270.1_Missense_Mutation_p.W1431L NM_006231.2 NP_006222.2 Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit 1458 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 89 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) CTCTGCTTCCCAGCCTGAAAG 0.582 DNA polymerases (catalytic subunits) 8 220 --- --- --- --- XPO4 64328 broad.mit.edu 37 13 21375050 21375050 + Missense_Mutation SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr13:21375050G>T ENST00000400602.2 - 14 1932 c.1897C>A c.(1897-1899)Cag>Aag p.Q633K XPO4_ENST00000255305.6_Missense_Mutation_p.Q633K NM_022459.4 NP_071904.4 Q9C0E2 XPO4_HUMAN exportin 4 633 protein transport cytoplasm|nucleus protein binding breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 41 all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548) TTGCCCATCTGGGGACTTAGT 0.393 6 131 --- --- --- --- MED4 29079 broad.mit.edu 37 13 48653982 48653982 + Missense_Mutation SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr13:48653982G>T ENST00000258648.2 - 6 663 c.638C>A c.(637-639)cCa>cAa p.P213Q MED4_ENST00000378586.1_Missense_Mutation_p.P167Q|MED4-AS1_ENST00000422483.1_RNA|MED4_ENST00000495013.1_5'UTR NM_014166.3 NP_054885.1 Q9NPJ6 MED4_HUMAN mediator complex subunit 4 213 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1) 8 all_cancers(8;2.93e-25)|all_epithelial(8;4.38e-13)|all_lung(13;7.37e-06)|all_hematologic(8;8.61e-05)|Breast(56;0.000141)|Lung NSC(96;0.000518)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.00559)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236) GBM - Glioblastoma multiforme(144;5.18e-07) AACATTACCTGGCAATCTTCC 0.453 5 123 --- --- --- --- VPS36 51028 broad.mit.edu 37 13 53008975 53008975 + Nonsense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr13:53008975C>A ENST00000378060.4 - 5 421 c.394G>T c.(394-396)Gag>Tag p.E132* VPS36_ENST00000480923.1_5'UTR NM_001282168.1|NM_001282169.1|NM_016075.2 NP_001269097.1|NP_001269098.1|NP_057159.2 Q86VN1 VPS36_HUMAN vacuolar protein sorting 36 homolog (S. cerevisiae) 132 GLUE C-terminal. cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|late endosome|membrane|nucleus lipid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2) 17 Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.14e-08) GGCATATTCTCCCATCTTCTT 0.343 7 250 --- --- --- --- RBM26 64062 broad.mit.edu 37 13 79916824 79916824 + Missense_Mutation SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr13:79916824G>T ENST00000438737.2 - 17 2842 c.2402C>A c.(2401-2403)cCa>cAa p.P801Q RBM26_ENST00000438724.1_Missense_Mutation_p.P777Q|RBM26_ENST00000267229.7_Missense_Mutation_p.P774Q Q5T8P6 RBM26_HUMAN RNA binding motif protein 26 801 mRNA processing nucleotide binding|protein binding|RNA binding|zinc ion binding NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 33 Acute lymphoblastic leukemia(28;0.0279) GBM - Glioblastoma multiforme(99;0.0188) TATACTTTTTGGAAGACAGCG 0.299 7 227 --- --- --- --- SLITRK1 114798 broad.mit.edu 37 13 84454723 84454723 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr13:84454723C>A ENST00000377084.2 - 1 1805 c.920G>T c.(919-921)gGa>gTa p.G307V NM_001281503.1|NM_052910.1 NP_001268432.1|NP_443142.1 Q96PX8 SLIK1_HUMAN SLIT and NTRK-like family, member 1 307 integral to membrane NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 80 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) CTTTGTACCTCCGTTTGGAGC 0.542 7 67 --- --- --- --- OR10G2 26534 broad.mit.edu 37 14 22102996 22102996 + Translation_Start_Site SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr14:22102996C>A ENST00000542433.1 - 1 100 c.3G>T c.(1-3)atG>atT p.M1I NM_001005466.1 NP_001005466.1 Q8NGC3 O10G2_HUMAN olfactory receptor, family 10, subfamily G, member 2 1 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2) 22 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0142) TGGTCTTTCCCATGTCTTTTT 0.443 8 117 --- --- --- --- TRAV2 28691 broad.mit.edu 37 14 22180919 22180919 + RNA SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr14:22180919C>A ENST00000390424.2 + 0 201 CTTCACTTCCCGGGATGTGCA 0.493 7 315 --- --- --- --- TRAV8-4 28682 broad.mit.edu 37 14 22362923 22362923 + RNA SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr14:22362923C>A ENST00000390438.2 + 0 182 CAGGAGGAACCAGAGCCCAGT 0.483 OREG0022572 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 86 --- --- --- --- DHRS1 115817 broad.mit.edu 37 14 24765763 24765763 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr14:24765763C>A ENST00000288111.7 - 4 602 c.326G>T c.(325-327)tGg>tTg p.W109L DHRS1_ENST00000396813.1_Missense_Mutation_p.W109L NM_001136050.2 NP_001129522.1 Q96LJ7 DHRS1_HUMAN dehydrogenase/reductase (SDR family) member 1 109 endoplasmic reticulum binding|oxidoreductase activity cervix(1)|endometrium(1)|large_intestine(2)|lung(2) 6 GBM - Glioblastoma multiforme(265;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(311;0.0442) AGGGGTTTCCCAGAATGCCTT 0.552 OREG0022622 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 116 --- --- --- --- ADCY4 196883 broad.mit.edu 37 14 24799472 24799472 + Silent SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr14:24799472C>A ENST00000310677.4 - 8 1073 c.960G>T c.(958-960)ctG>ctT p.L320L ADCY4_ENST00000418030.2_Silent_p.L320L|ADCY4_ENST00000396747.3_Intron|ADCY4_ENST00000554068.2_Silent_p.L320L NM_001198568.1|NM_001198592.1|NM_139247.3 NP_001185497.1|NP_001185521.1|NP_640340.2 Q8NFM4 ADCY4_HUMAN adenylate cyclase 4 320 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding|protein binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(265;0.0192) AACAGTCCCCCAGGATCTTGA 0.567 5 57 --- --- --- --- NYNRIN 57523 broad.mit.edu 37 14 24880587 24880587 + Nonsense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr14:24880587C>A ENST00000382554.3 + 6 2891 c.2573C>A c.(2572-2574)tCg>tAg p.S858* NM_025081.2 NP_079357.2 Q9P2P1 NYNRI_HUMAN NYN domain and retroviral integrase containing 858 DNA integration integral to membrane DNA binding breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 AAGCTACACTCGCTCAAGATG 0.552 OREG0022626 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 198 --- --- --- --- SLC25A21 89874 broad.mit.edu 37 14 37149905 37149905 + Silent SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr14:37149905C>A ENST00000331299.5 - 10 1373 c.858G>T c.(856-858)ctG>ctT p.L286L SLC25A21_ENST00000555449.1_Silent_p.L286L NM_030631.3 NP_085134.1 Q9BQT8 ODC_HUMAN solute carrier family 25 (mitochondrial oxoadipate carrier), member 21 286 lysine catabolic process integral to membrane|mitochondrial inner membrane alpha-ketoglutarate transmembrane transporter activity|binding NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1) 9 Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213) Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149) GBM - Glioblastoma multiforme(112;0.00204) ATTCATAAACCAGCAGCATCA 0.418 5 110 --- --- --- --- FANCM 57697 broad.mit.edu 37 14 45665409 45665409 + Missense_Mutation SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr14:45665409G>T ENST00000267430.5 + 21 5460 c.5375G>T c.(5374-5376)gGg>gTg p.G1792V FANCM_ENST00000542564.2_Missense_Mutation_p.G1766V NM_020937.2 NP_065988.1 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 1792 Interaction with FAAP24 and EME1. DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 85 AGCACTTCAGGGGCATCCTGT 0.433 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 6 117 --- --- --- --- STYX 6815 broad.mit.edu 37 14 53211583 53211583 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr14:53211583C>A ENST00000354586.4 + 2 364 c.71C>A c.(70-72)cCt>cAt p.P24H STYX_ENST00000442123.2_Missense_Mutation_p.P24H|STYX_ENST00000556861.1_Intron NM_145251.3 NP_660294.1 Q8WUJ0 STYX_HUMAN serine/threonine/tyrosine interacting protein 24 protein dephosphorylation|spermatogenesis cytoplasm protein tyrosine/serine/threonine phosphatase activity endometrium(1)|kidney(1)|large_intestine(2)|lung(1) 5 Breast(41;0.176) TGGACCTACCCTATGAGACGA 0.368 5 79 --- --- --- --- SYNE2 23224 broad.mit.edu 37 14 64574302 64574302 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr14:64574302C>A ENST00000357395.3 + 66 12885 c.1741C>A c.(1741-1743)Cta>Ata p.L581I SYNE2_ENST00000394768.2_Missense_Mutation_p.L581I|SYNE2_ENST00000344113.4_Missense_Mutation_p.L4196I|SYNE2_ENST00000554584.1_Missense_Mutation_p.L4211I|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Missense_Mutation_p.L830I|SYNE2_ENST00000358025.3_Missense_Mutation_p.L4196I Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 4196 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) AGAATGTTCCCTAAGGCCCAA 0.453 7 202 --- --- --- --- SMOC1 64093 broad.mit.edu 37 14 70461181 70461181 + Silent SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr14:70461181C>A ENST00000381280.4 + 7 901 c.648C>A c.(646-648)acC>acA p.T216T SMOC1_ENST00000361956.3_Silent_p.T216T NM_001034852.2|NM_022137.5 NP_001030024.1|NP_071420.1 Q9H4F8 SMOC1_HUMAN SPARC related modular calcium binding 1 216 cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction basement membrane calcium ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 21 all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028) TGAACAACACCAACATAAGAA 0.428 6 180 --- --- --- --- PCNX 22990 broad.mit.edu 37 14 71455412 71455412 + Missense_Mutation SNP C C A rs11625690 TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr14:71455412C>A ENST00000304743.2 + 7 2886 c.2440C>A c.(2440-2442)Cta>Ata p.L814I PCNX_ENST00000439984.3_Intron|PCNX_ENST00000238570.5_Missense_Mutation_p.L814I NM_014982.2 NP_055797.2 Q96RV3 PCX1_HUMAN pecanex homolog (Drosophila) 814 L -> I (in dbSNP:rs11625690). integral to membrane NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1) 87 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) CGGATCACCCCTAAGGTATGG 0.493 7 259 --- --- --- --- MLH3 27030 broad.mit.edu 37 14 75489529 75489529 + Missense_Mutation SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr14:75489529G>T ENST00000355774.2 - 11 4293 c.4078C>A c.(4078-4080)Caa>Aaa p.Q1360K MLH3_ENST00000238662.7_Missense_Mutation_p.Q1336K|MLH3_ENST00000380968.2_Missense_Mutation_p.Q298K|MLH3_ENST00000544985.1_3'UTR|MLH3_ENST00000556740.1_Missense_Mutation_p.Q1360K|MLH3_ENST00000556257.1_Missense_Mutation_p.Q1182K NM_001040108.1 NP_001035197.1 Q9UHC1 MLH3_HUMAN mutL homolog 3 1360 mismatch repair|reciprocal meiotic recombination chiasma|MutLbeta complex|synaptonemal complex ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 44 BRCA - Breast invasive adenocarcinoma(234;0.00688) TGGCAGGCTTGGGATGCCAAC 0.517 Mismatch excision repair (MMR) 7 175 --- --- --- --- EVL 51466 broad.mit.edu 37 14 100604171 100604171 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr14:100604171C>A ENST00000544450.2 + 11 1421 c.1138C>A c.(1138-1140)Cca>Aca p.P380T EVL_ENST00000402714.2_Intron|EVL_ENST00000392920.3_Intron Q9UI08 EVL_HUMAN Enah/Vasp-like 184 EVH2 block C.|EVH2. actin polymerization or depolymerization|axon guidance|cell surface receptor linked signaling pathway|organ morphogenesis cytoskeleton|cytosol|focal adhesion|lamellipodium actin binding|profilin binding|SH3 domain binding cervix(1)|large_intestine(5)|lung(3)|ovary(3)|urinary_tract(2) 14 Melanoma(154;0.152) CACATGTCCCCCAGGGTTTGG 0.592 5 64 --- --- --- --- TECPR2 9895 broad.mit.edu 37 14 102904421 102904421 + Silent SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr14:102904421C>A ENST00000359520.7 + 10 2683 c.2457C>A c.(2455-2457)tcC>tcA p.S819S TECPR2_ENST00000558678.1_Silent_p.S819S NM_014844.3 NP_055659.2 O15040 TCPR2_HUMAN tectonin beta-propeller repeat containing 2 819 protein binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 50 TGGTGGTCTCCGAGAAGTATA 0.587 OREG0022547 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 222 --- --- --- --- IGHV3-21 28444 broad.mit.edu 37 14 106691827 106691827 + RNA SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr14:106691827C>A ENST00000390607.2 - 0 275 GGATGAGACCCACTCCAGCCC 0.532 7 247 --- --- --- --- NDNL2 56160 broad.mit.edu 37 15 29561192 29561192 + Missense_Mutation SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr15:29561192G>T ENST00000332303.4 - 1 841 c.718C>A c.(718-720)Cac>Aac p.H240N FAM189A1_ENST00000261275.4_Intron NM_138704.3 NP_619649.1 Q96MG7 MAGG1_HUMAN necdin-like 2 240 MAGE. regulation of growth cytoplasm|nucleus breast(3)|large_intestine(2)|lung(3) 8 all_lung(180;4.69e-11)|Breast(32;0.0013) all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153) GGGTCGGTGTGGGGTATCCGC 0.502 6 100 --- --- --- --- PAK6 56924 broad.mit.edu 37 15 40564554 40564554 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr15:40564554C>A ENST00000455577.2 + 6 1900 c.988C>A c.(988-990)Cag>Aag p.Q330K PAK6_ENST00000441369.1_Missense_Mutation_p.Q330K|PAK6_ENST00000542403.2_Missense_Mutation_p.Q330K|PAK6_ENST00000260404.4_Missense_Mutation_p.Q330K|PAK6_ENST00000560346.1_Missense_Mutation_p.Q330K|RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000453867.1_Missense_Mutation_p.Q330K NM_001276718.1 NP_001263647.1 Q9NQU5 PAK6_HUMAN p21 protein (Cdc42/Rac)-activated kinase 6 330 Linker. ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2) 24 all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544) CAGCAGCCCCCAGAAGTCCCT 0.687 5 89 --- --- --- --- CHST14 113189 broad.mit.edu 37 15 40764282 40764282 + Silent SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr15:40764282C>A ENST00000306243.5 + 1 1123 c.870C>A c.(868-870)gcC>gcA p.A290A CHST14_ENST00000559991.1_Silent_p.A265A NM_130468.3 NP_569735.1 Q8NCH0 CHSTE_HUMAN carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14 290 carbohydrate biosynthetic process|dermatan sulfate proteoglycan metabolic process Golgi membrane|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity|phosphate binding cervix(1)|large_intestine(1)|prostate(2) 4 all_cancers(109;2.34e-14)|all_epithelial(112;1.08e-11)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;3e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0781) AGCCTTGTGCCGTGCACTATG 0.567 5 170 --- --- --- --- SHC4 399694 broad.mit.edu 37 15 49255147 49255147 + Silent SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr15:49255147G>T ENST00000332408.4 - 1 494 c.66C>A c.(64-66)ccC>ccA p.P22P NM_203349.3 NP_976224.3 Q6S5L8 SHC4_HUMAN SHC (Src homology 2 domain containing) family, member 4 22 CH2. intracellular signal transduction cell junction|postsynaptic membrane breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1) 29 all_lung(180;0.00466) all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07) GCAGCATCCCGGGGTGCCCGA 0.607 6 152 --- --- --- --- ATP8B4 79895 broad.mit.edu 37 15 50279700 50279700 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr15:50279700C>A ENST00000284509.6 - 10 777 c.636G>T c.(634-636)atG>atT p.M212I ATP8B4_ENST00000558959.1_5'UTR|ATP8B4_ENST00000559829.1_Missense_Mutation_p.M212I NM_024837.2 NP_079113.2 Q8TF62 AT8B4_HUMAN ATPase, class I, type 8B, member 4 212 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) AAAGGATTCCCATGAATTTAT 0.393 5 87 --- --- --- --- UNC13C 440279 broad.mit.edu 37 15 54586236 54586236 + Missense_Mutation SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr15:54586236G>T ENST00000545554.1 + 10 3962 c.3962G>T c.(3961-3963)gGa>gTa p.G1321V UNC13C_ENST00000260323.11_Missense_Mutation_p.G1321V|UNC13C_ENST00000537900.1_Missense_Mutation_p.G1319V Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 1321 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) ACCTTGAGTGGAGAAATGGAT 0.353 7 215 --- --- --- --- CILP 8483 broad.mit.edu 37 15 65502087 65502087 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr15:65502087C>A ENST00000261883.4 - 2 173 c.7G>T c.(7-9)Ggg>Tgg p.G3W NM_003613.3 NP_003604 O75339 CILP1_HUMAN cartilage intermediate layer protein, nucleotide pyrophosphohydrolase 3 negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix p.G3R(1) breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 55 GCCTTGGTCCCCACCATCTTT 0.552 5 57 --- --- --- --- SNUPN 10073 broad.mit.edu 37 15 75899625 75899625 + Nonsense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr15:75899625C>A ENST00000564644.1 - 7 1110 c.532G>T c.(532-534)Gag>Tag p.E178* SNUPN_ENST00000308588.5_Nonsense_Mutation_p.E178*|SNUPN_ENST00000567134.1_Nonsense_Mutation_p.E178*|SNUPN_ENST00000371091.5_Nonsense_Mutation_p.E220*|SNUPN_ENST00000564675.1_Nonsense_Mutation_p.E178* O95149 SPN1_HUMAN snurportin 1 178 ncRNA metabolic process|protein import into nucleus|spliceosomal snRNP assembly cytosol|nuclear pore protein transporter activity|RNA cap binding endometrium(2)|large_intestine(3)|lung(2)|pancreas(1) 8 TGGTTTACCTCATTGTAAATG 0.498 6 91 --- --- --- --- TBC1D2B 23102 broad.mit.edu 37 15 78346441 78346441 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr15:78346441C>A ENST00000409931.3 - 2 520 c.449G>T c.(448-450)tGg>tTg p.W150L TBC1D2B_ENST00000300584.3_Missense_Mutation_p.W150L Q9UPU7 TBD2B_HUMAN TBC1 domain family, member 2B 150 intracellular protein binding|Rab GTPase activator activity breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 26 CCTGCTGTCCCACTTGACCAT 0.488 6 139 --- --- --- --- MEX3B 84206 broad.mit.edu 37 15 82336242 82336242 + Silent SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr15:82336242G>T ENST00000329713.4 - 2 1404 c.969C>A c.(967-969)ccC>ccA p.P323P MEX3B_ENST00000558133.1_3'UTR NM_032246.4 NP_115622.2 Q6ZN04 MEX3B_HUMAN mex-3 RNA binding family member B 323 protein autophosphorylation cytoplasmic mRNA processing body|nucleus calcium ion binding|RNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1) 19 AGCTCAGGGCGGGGCTAGGGG 0.637 5 104 --- --- --- --- MCTP2 55784 broad.mit.edu 37 15 94928745 94928745 + Silent SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr15:94928745C>A ENST00000357742.4 + 13 1779 c.1779C>A c.(1777-1779)ccC>ccA p.P593P MCTP2_ENST00000557742.1_Silent_p.P181P|MCTP2_ENST00000451018.3_Silent_p.P593P|MCTP2_ENST00000331706.4_Silent_p.P181P NM_018349.3 NP_060819.3 Q6DN12 MCTP2_HUMAN multiple C2 domains, transmembrane 2 593 calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2) 49 Lung NSC(78;0.0821)|all_lung(78;0.148) BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593) TTGCCATTCCCTTGCTGTCCG 0.363 6 154 --- --- --- --- RHBDL1 9028 broad.mit.edu 37 16 726866 726866 + Silent SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr16:726866C>A ENST00000219551.2 + 2 618 c.591C>A c.(589-591)ccC>ccA p.P197P RHBDL1_ENST00000352681.3_Silent_p.P132P O75783 RHBL1_HUMAN rhomboid, veinlet-like 1 (Drosophila) 197 proteolysis|signal transduction integral to plasma membrane|membrane fraction calcium ion binding|serine-type endopeptidase activity endometrium(1)|kidney(1)|lung(4)|urinary_tract(3) 9 Hepatocellular(780;0.0218) GCCCACCCCCCGTGTTCATGG 0.667 5 68 --- --- --- --- MLST8 64223 broad.mit.edu 37 16 2256121 2256121 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr16:2256121C>A ENST00000569417.1 + 2 389 c.35C>A c.(34-36)cCg>cAg p.P12Q MLST8_ENST00000565250.1_Missense_Mutation_p.P12Q|MLST8_ENST00000301725.7_Missense_Mutation_p.P31Q|MLST8_ENST00000397124.1_Missense_Mutation_p.P12Q|MLST8_ENST00000382450.4_Missense_Mutation_p.P12Q|MLST8_ENST00000561651.1_3'UTR|MLST8_ENST00000301724.10_Missense_Mutation_p.P12Q|MLST8_ENST00000564088.1_Missense_Mutation_p.P12Q NM_022372.4 NP_071767.3 Q9BVC4 LST8_HUMAN MTOR associated protein, LST8 homolog (S. cerevisiae) 12 insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation cytosol protein binding large_intestine(3)|lung(2)|skin(1) 6 GGCAGTGACCCGGTCATCCTG 0.652 5 129 --- --- --- --- ANKS3 124401 broad.mit.edu 37 16 4750963 4750963 + Missense_Mutation SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr16:4750963G>T ENST00000450067.2 - 7 984 c.674C>A c.(673-675)cCg>cAg p.P225Q ANKS3_ENST00000585773.1_Intron|ANKS3_ENST00000446014.2_Intron|ANKS3_ENST00000304283.4_Intron Q6ZW76 ANKS3_HUMAN ankyrin repeat and sterile alpha motif domain containing 3 0 endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1) 19 TTTCACAAGCGGTCTTACCTG 0.572 5 303 --- --- --- --- GP2 2813 broad.mit.edu 37 16 20335306 20335306 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr16:20335306C>A ENST00000302555.5 - 3 516 c.367G>T c.(367-369)Ggg>Tgg p.G123W GP2_ENST00000381362.4_Missense_Mutation_p.G123W|GP2_ENST00000341642.5_Intron|GP2_ENST00000381360.5_Intron P55259 GP2_HUMAN glycoprotein 2 (zymogen granule membrane) 123 anchored to membrane|extracellular region|plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 GGGTGGGTCCCATTCAGCCAC 0.592 5 92 --- --- --- --- PAGR1 79447 broad.mit.edu 37 16 29830900 29830900 + Missense_Mutation SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr16:29830900G>T ENST00000320330.6 + 3 1152 c.590G>T c.(589-591)cGg>cTg p.R197L AC009133.12_ENST00000569809.1_RNA|AC009133.20_ENST00000569039.1_RNA|AC009133.12_ENST00000564980.1_RNA|PAGR1_ENST00000609618.1_Missense_Mutation_p.R197L PAXIP1 associated glutamate-rich protein 1 AGCCAGAAACGGGAGGCCCGC 0.577 6 278 --- --- --- --- HIRIP3 8479 broad.mit.edu 37 16 30006001 30006001 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr16:30006001C>A ENST00000279392.3 - 4 1295 c.465G>T c.(463-465)agG>agT p.R155S HIRIP3_ENST00000564026.1_Intron NM_003609.4 NP_003600.2 Q9BW71 HIRP3_HUMAN HIRA interacting protein 3 155 Glu-rich. chromatin assembly or disassembly nucleus protein binding central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9) 17 TCTCCTCTCCCCTCTGTGCGG 0.567 11 375 --- --- --- --- ZNF689 115509 broad.mit.edu 37 16 30620869 30620869 + Missense_Mutation SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr16:30620869G>T ENST00000287461.3 - 2 633 c.296C>A c.(295-297)cCg>cAg p.P99Q ZNF689_ENST00000566673.1_5'UTR NM_138447.1 NP_612456.1 Q96CS4 ZN689_HUMAN zinc finger protein 689 99 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1) 14 Colorectal(24;0.198) TAGCCCTCTCGGGTACTCCTG 0.557 4 85 --- --- --- --- ADGRG1 9289 broad.mit.edu 37 16 57691386 57691386 + Silent SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr16:57691386C>A ENST00000562631.1 + 10 1801 c.1269C>A c.(1267-1269)gcC>gcA p.A423A GPR56_ENST00000388812.4_Silent_p.A423A|GPR56_ENST00000540164.2_Silent_p.A423A|GPR56_ENST00000562558.1_Silent_p.A423A|GPR56_ENST00000568909.1_Silent_p.A423A|GPR56_ENST00000379696.3_Silent_p.A423A|GPR56_ENST00000379694.4_Silent_p.A253A|GPR56_ENST00000456916.1_Silent_p.A423A|GPR56_ENST00000544297.1_Silent_p.A248A|GPR56_ENST00000568908.1_Silent_p.A423A|GPR56_ENST00000538815.1_Silent_p.A423A|GPR56_ENST00000388813.5_Silent_p.A423A|GPR56_ENST00000567835.1_Silent_p.A423A Q9Y653 GPR56_HUMAN G protein-coupled receptor 56 423 brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway integral to plasma membrane G-protein coupled receptor activity kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1) 15 TCACCATTGCCGCCTACCTCT 0.647 5 222 --- --- --- --- GPR97 222487 broad.mit.edu 37 16 57722301 57722301 + Silent SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr16:57722301C>A ENST00000333493.4 + 12 1739 c.1578C>A c.(1576-1578)ctC>ctA p.L526L RP11-405F3.4_ENST00000563062.1_RNA|GPR97_ENST00000450388.3_Silent_p.L406L|GPR97_ENST00000327655.6_Intron NM_170776.4 NP_740746.4 Q86Y34 GPR97_HUMAN G protein-coupled receptor 97 526 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 TCCTTTACCTCCCAAGTCAGA 0.572 7 179 --- --- --- --- TPPP3 51673 broad.mit.edu 37 16 67424535 67424535 + Splice_Site SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr16:67424535C>A ENST00000564104.1 - 2 1030 c.189G>T c.(187-189)aaG>aaT p.K63N TPPP3_ENST00000290942.5_Splice_Site_p.K63N|TPPP3_ENST00000562206.1_Splice_Site_p.K63N|TPPP3_ENST00000393957.2_Splice_Site_p.K63N Q9BW30 TPPP3_HUMAN tubulin polymerization-promoting protein family member 3 63 microtubule bundle formation cytoplasm|microtubule calcium ion binding|tubulin binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1) 7 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0336)|Epithelial(162;0.0781) CAGACTTCCCCCTGACAGGCA 0.532 7 167 --- --- --- --- DHX38 9785 broad.mit.edu 37 16 72130760 72130760 + Silent SNP G G T rs147413193 TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr16:72130760G>T ENST00000268482.3 + 3 872 c.363G>T c.(361-363)ccG>ccT p.P121P DHX38_ENST00000536867.1_Intron NM_014003.3 NP_054722.2 Q92620 PRP16_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 38 121 mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription catalytic step 2 spliceosome|nucleoplasm ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding p.P121P(1) endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 48 Ovarian(137;0.125) CATCCCATCCGGGTGGTGTGA 0.537 9 279 --- --- --- --- PMFBP1 83449 broad.mit.edu 37 16 72184682 72184682 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr16:72184682C>A ENST00000537465.1 - 5 619 c.461G>T c.(460-462)gGg>gTg p.G154V PMFBP1_ENST00000237353.10_Missense_Mutation_p.G154V|PMFBP1_ENST00000355636.6_Missense_Mutation_p.G9V Q8TBY8 PMFBP_HUMAN polyamine modulated factor 1 binding protein 1 154 NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 45 Ovarian(137;0.179) GAGCTTCTCCCCTGTGTTCTC 0.493 7 117 --- --- --- --- ZFHX3 463 broad.mit.edu 37 16 72829959 72829959 + Missense_Mutation SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr16:72829959G>T ENST00000268489.5 - 9 7294 c.6622C>A c.(6622-6624)Cct>Act p.P2208T ZFHX3_ENST00000397992.5_Missense_Mutation_p.P1294T NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 2208 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) AAGTTGTAAGGGGAGTCCTTG 0.527 7 127 --- --- --- --- PKD1L2 114780 broad.mit.edu 37 16 81161416 81161416 + RNA SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr16:81161416C>A ENST00000533478.1 - 0 4354 PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000534142.1_RNA NM_001278425.1 NP_001265354.1 Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 AGCCTCCTCCCCGGTACACAG 0.527 5 46 --- --- --- --- IRF8 3394 broad.mit.edu 37 16 85952112 85952112 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr16:85952112C>A ENST00000268638.5 + 7 1113 c.691C>A c.(691-693)Ctg>Atg p.L231M IRF8_ENST00000562492.1_Missense_Mutation_p.L27M NM_002163.2 NP_002154.1 Q02556 IRF8_HUMAN interferon regulatory factor 8 231 interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway nucleus DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 24 Prostate(104;0.0771) CCGCCTGTCCCTGAGCCAGCC 0.687 5 88 --- --- --- --- MNT 4335 broad.mit.edu 37 17 2290812 2290812 + Missense_Mutation SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr17:2290812G>T ENST00000174618.4 - 6 1537 c.1132C>A c.(1132-1134)Ctg>Atg p.L378M MNT_ENST00000575374.1_5'UTR NM_020310.2 NP_064706.1 Q99583 MNT_HUMAN MAX network transcriptional repressor 378 multicellular organismal development|negative regulation of cell proliferation|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity endometrium(4)|large_intestine(5)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 12 Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05) tgtggaggcagaggcgcaggg 0.711 6 119 --- --- --- --- RAP1GAP2 23108 broad.mit.edu 37 17 2908722 2908722 + Silent SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr17:2908722C>A ENST00000254695.8 + 15 1350 c.1260C>A c.(1258-1260)ccC>ccA p.P420P RAP1GAP2_ENST00000540393.2_Silent_p.P401P|RAP1GAP2_ENST00000366401.4_Silent_p.P405P|RAP1GAP2_ENST00000542807.1_Silent_p.P420P NM_015085.4 NP_055900.4 Q684P5 RPGP2_HUMAN RAP1 GTPase activating protein 2 420 Rap-GAP. regulation of small GTPase mediated signal transduction centrosome|cytosol|perinuclear region of cytoplasm GTPase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 11 CCAGTCCCCCCGTTTTCCAGA 0.562 5 206 --- --- --- --- ALOX15 246 broad.mit.edu 37 17 4542227 4542227 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr17:4542227C>A ENST00000570836.1 - 5 556 c.460G>T c.(460-462)Ggg>Tgg p.G154W ALOX15_ENST00000574640.1_Missense_Mutation_p.G115W|ALOX15_ENST00000293761.3_Missense_Mutation_p.G154W|ALOX15_ENST00000545513.1_Missense_Mutation_p.G176W P16050 LOX15_HUMAN arachidonate 15-lipoxygenase 154 Lipoxygenase. inflammatory response|leukotriene biosynthetic process nucleus arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5) 20 READ - Rectum adenocarcinoma(115;0.0327) Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744) AGTTTGGCCCCAGCCATATTC 0.537 6 135 --- --- --- --- ACAP1 9744 broad.mit.edu 37 17 7240646 7240646 + Silent SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr17:7240646G>T ENST00000158762.3 + 2 275 c.69G>T c.(67-69)ctG>ctT p.L23L NM_014716.3 NP_055531.1 Q15027 ACAP1_HUMAN ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 23 BAR.|Required for formation of endosomal tubules when overexpressed with PIP5K1C. intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1) 33 CTATTGAGCTGGTGGAAGCCG 0.582 6 130 --- --- --- --- MYH1 4619 broad.mit.edu 37 17 10415429 10415429 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr17:10415429C>A ENST00000226207.5 - 13 1322 c.1228G>T c.(1228-1230)Ggc>Tgc p.G410C RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 410 Myosin head-like. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 TACTCATTGCCGACCTTGACC 0.463 7 282 --- --- --- --- SSH2 85464 broad.mit.edu 37 17 27962986 27962986 + Splice_Site SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr17:27962986C>A ENST00000269033.3 - 14 2332 c.2181G>T c.(2179-2181)aaG>aaT p.K727N RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Splice_Site_p.K754N NM_001282129.1|NM_033389.2 NP_001269058.1|NP_203747.2 Q76I76 SSH2_HUMAN slingshot protein phosphatase 2 727 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 CAGTTTTTACCTTTGACTGTT 0.393 8 209 --- --- --- --- SLFN12 55106 broad.mit.edu 37 17 33749994 33749994 + Silent SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr17:33749994C>A ENST00000394562.1 - 4 577 c.54G>T c.(52-54)gtG>gtT p.V18V SLFN12_ENST00000304905.5_Silent_p.V18V|SLFN12_ENST00000452764.3_Silent_p.V18V Q8IYM2 SLN12_HUMAN schlafen family member 12 18 ATP binding breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 18 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) TGACTCTTCCCACATCTAGAA 0.403 6 177 --- --- --- --- SYNRG 11276 broad.mit.edu 37 17 35930983 35930983 + Splice_Site SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr17:35930983C>A ENST00000339208.6 - 10 1240 c.1100G>T c.(1099-1101)aGg>aTg p.R367M SYNRG_ENST00000585472.1_Splice_Site_p.R288M|SYNRG_ENST00000345615.4_Splice_Site_p.R289M|SYNRG_ENST00000588194.1_5'UTR|SYNRG_ENST00000502449.2_Splice_Site_p.R289M|SYNRG_ENST00000394378.2_Splice_Site_p.R289M|SYNRG_ENST00000346661.4_Splice_Site_p.R367M|SYNRG_ENST00000591288.1_Intron NM_001163544.1|NM_001163545.1|NM_007247.4 NP_001157016.1|NP_001157017.1|NP_009178.3 Q9UMZ2 SYNRG_HUMAN synergin, gamma 367 EH. endocytosis|intracellular protein transport AP-1 adaptor complex calcium ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 AGGAACGCCCCTCTACAAATG 0.433 6 162 --- --- --- --- CDK12 51755 broad.mit.edu 37 17 37627429 37627429 + Silent SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr17:37627429C>A ENST00000447079.4 + 2 1377 c.1344C>A c.(1342-1344)ccC>ccA p.P448P CDK12_ENST00000430627.2_Silent_p.P448P NM_015083.1|NM_016507.2 NP_055898.1|NP_057591.2 Q9NYV4 CDK12_HUMAN cyclin-dependent kinase 12 448 mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3) 70 AAAAGTTACCCAGAAGTGTAA 0.388 """Mis, N, F""" serous ovarian TCGA Ovarian(9;0.13) 5 95 --- --- --- --- CASC3 22794 broad.mit.edu 37 17 38325650 38325650 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr17:38325650C>A ENST00000264645.7 + 12 2265 c.2039C>A c.(2038-2040)cCa>cAa p.P680Q NM_007359.4 NP_031385.2 O15234 CASC3_HUMAN cancer susceptibility candidate 3 680 Necessary for localization in cytoplasmic stress granules. mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm identical protein binding|RNA binding|ubiquitin protein ligase binding endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2) 16 AAGCCCTCCCCACCCCGGAGG 0.582 6 101 --- --- --- --- HAP1 9001 broad.mit.edu 37 17 39881202 39881202 + Silent SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr17:39881202G>T ENST00000393939.2 - 10 1545 c.1536C>A c.(1534-1536)acC>acA p.T512T HAP1_ENST00000310778.5_Silent_p.T589T|HAP1_ENST00000347901.4_Silent_p.T537T|JUP_ENST00000540235.1_Intron|HAP1_ENST00000341193.5_Silent_p.T520T P54257 HAP1_HUMAN huntingtin-associated protein 1 589 Glu-rich. brain development|protein localization|synaptic transmission actin cytoskeleton protein binding p.T537T(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1) 21 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.0677) CCCAGCCCTCGGTCTCCTCTG 0.652 8 358 --- --- --- --- STAT5A 6776 broad.mit.edu 37 17 40453403 40453403 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr17:40453403C>A ENST00000345506.4 + 10 1742 c.1100C>A c.(1099-1101)cCc>cAc p.P367H STAT5A_ENST00000590949.1_Missense_Mutation_p.P367H|STAT5A_ENST00000452307.2_Missense_Mutation_p.P367H|STAT5A_ENST00000588868.1_Missense_Mutation_p.P367H|STAT5A_ENST00000546010.2_Missense_Mutation_p.P337H NM_003152.3 NP_003143.2 P42229 STA5A_HUMAN signal transducer and activator of transcription 5A 367 2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process cytosol|nucleoplasm calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 14 all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.128) ATGAATCCCCCCCAGGTGAAG 0.567 6 83 --- --- --- --- ATP6V0A1 535 broad.mit.edu 37 17 40647096 40647096 + Missense_Mutation SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr17:40647096G>T ENST00000343619.4 + 13 1482 c.1359G>T c.(1357-1359)atG>atT p.M453I ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.M410I|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.M453I|ATP6V0A1_ENST00000544137.1_Missense_Mutation_p.M99I|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.M410I|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.M453I|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.M460I NM_001130021.1 NP_001123493.1 Q93050 VPP1_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a1 453 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3) 26 all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254) BRCA - Breast invasive adenocarcinoma(366;0.137) TTTTATTGATGGGTGTGTTCT 0.413 9 214 --- --- --- --- EZH1 2145 broad.mit.edu 37 17 40864402 40864402 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr17:40864402C>A ENST00000428826.2 - 12 1427 c.1306G>T c.(1306-1308)Ggg>Tgg p.G436W EZH1_ENST00000415827.2_Missense_Mutation_p.G427W|EZH1_ENST00000590078.1_Missense_Mutation_p.G366W|EZH1_ENST00000592743.1_Missense_Mutation_p.G436W|EZH1_ENST00000435174.1_Missense_Mutation_p.G297W|EZH1_ENST00000585893.1_Missense_Mutation_p.G396W Q92800 EZH1_HUMAN enhancer of zeste homolog 1 (Drosophila) 436 anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex chromatin binding|DNA binding breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2) 27 Breast(137;0.00104) BRCA - Breast invasive adenocarcinoma(366;0.0784) TCTTCAGCCCCAGTCCATTCC 0.537 6 136 --- --- --- --- DBF4B 80174 broad.mit.edu 37 17 42828262 42828262 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr17:42828262C>A ENST00000315005.3 + 14 1627 c.1489C>A c.(1489-1491)Cct>Act p.P497T DBF4B_ENST00000393547.2_Intron NM_145663.2 NP_663696.1 Q8NFT6 DBF4B_HUMAN DBF4 homolog B (S. cerevisiae) 497 cell cycle nucleus nucleic acid binding|zinc ion binding kidney(1)|large_intestine(1)|lung(5) 7 Prostate(33;0.0322) ACTCCTCTTCCCTGAAGCCAG 0.597 5 60 --- --- --- --- LRRC37A4P 55073 broad.mit.edu 37 17 43625833 43625833 + RNA SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr17:43625833C>A ENST00000586348.1 + 0 45 GTCCAACCTCCGTAGTGGGTT 0.507 7 388 --- --- --- --- KANSL1 284058 broad.mit.edu 37 17 44159892 44159892 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr17:44159892C>A ENST00000262419.6 - 4 1918 c.1448G>T c.(1447-1449)gGg>gTg p.G483V KANSL1_ENST00000575318.1_Missense_Mutation_p.G483V|KANSL1_ENST00000572904.1_Missense_Mutation_p.G483V|KANSL1_ENST00000432791.1_Missense_Mutation_p.G483V|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000574590.1_Missense_Mutation_p.G483V NM_001193466.1 NP_001180395 Q7Z3B3 K1267_HUMAN KAT8 regulatory NSL complex subunit 1 483 MLL1 complex protein binding AGGTACCTCCCCAAGAACTAT 0.388 5 36 --- --- --- --- HOXB3 3213 broad.mit.edu 37 17 46629480 46629480 + Silent SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr17:46629480G>T ENST00000470495.1 - 1 1804 c.357C>A c.(355-357)ccC>ccA p.P119P HOXB3_ENST00000311626.4_Silent_p.P119P|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000460160.1_Intron|HOXB3_ENST00000476342.1_Silent_p.P119P|HOXB3_ENST00000490677.1_Intron|HOXB3_ENST00000472863.1_Silent_p.P46P|HOXB3_ENST00000489475.1_Silent_p.P46P|HOXB3_ENST00000485909.2_Intron|HOXB3_ENST00000498678.1_Silent_p.P119P P14651 HXB3_HUMAN homeobox B3 119 angiogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1) 30 AGTTGGTGCCGGGACCGCACT 0.602 9 303 --- --- --- --- TEX14 56155 broad.mit.edu 37 17 56688674 56688674 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr17:56688674C>A ENST00000389934.3 - 10 1149 c.1032G>T c.(1030-1032)atG>atT p.M344I TEX14_ENST00000240361.8_Missense_Mutation_p.M350I|TEX14_ENST00000349033.5_Missense_Mutation_p.M344I NM_001201457.1|NM_198393.3 NP_001188386.1|NP_938207.2 Q8IWB6 TEX14_HUMAN testis expressed 14 350 Protein kinase. cytoplasm ATP binding|protein kinase activity breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 81 Medulloblastoma(34;0.127)|all_neural(34;0.237) CAATCACCTCCATGTGCAGCA 0.507 6 84 --- --- --- --- ACE 1636 broad.mit.edu 37 17 61562656 61562656 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr17:61562656C>A ENST00000577647.1 + 2 304 c.259C>A c.(259-261)Cag>Aag p.Q87K ACE_ENST00000490216.2_Missense_Mutation_p.Q87K|ACE_ENST00000290866.4_Missense_Mutation_p.Q661K|ACE_ENST00000421982.2_5'UTR|ACE_ENST00000428043.1_Missense_Mutation_p.Q661K|ACE_ENST00000290863.6_Missense_Mutation_p.Q87K|ACE_ENST00000413513.3_Missense_Mutation_p.Q87K P12821 ACE_HUMAN angiotensin I converting enzyme 661 Peptidase M2 1. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) CCGGACATCCCAGGTGGTGTG 0.567 5 54 --- --- --- --- SCN4A 6329 broad.mit.edu 37 17 62022837 62022837 + Silent SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr17:62022837G>T ENST00000435607.1 - 19 3679 c.3603C>A c.(3601-3603)tcC>tcA p.S1201S SCN4A_ENST00000578147.1_Silent_p.S1201S NM_000334.4 NP_000325.4 P35499 SCN4A_HUMAN sodium channel, voltage-gated, type IV, alpha subunit 1201 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 101 Lamotrigine(DB00555) TGTTGACCTCGGAGATGTCGA 0.537 6 316 --- --- --- --- POLG2 11232 broad.mit.edu 37 17 62492936 62492936 + Nonsense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr17:62492936C>A ENST00000539111.2 - 1 218 c.151G>T c.(151-153)Gag>Tag p.E51* NM_007215.3 NP_009146.2 Q9UHN1 DPOG2_HUMAN polymerase (DNA directed), gamma 2, accessory subunit 51 DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation mitochondrial chromosome ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1) 15 Breast(5;2.15e-14) BRCA - Breast invasive adenocarcinoma(8;4.97e-11) CCGTTCCCCTCGAGCTCCGCG 0.607 5 160 --- --- --- --- SOX9 6662 broad.mit.edu 37 17 70119738 70119738 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr17:70119738C>A ENST00000245479.2 + 3 1112 c.740C>A c.(739-741)cCg>cAg p.P247Q NM_000346.3 NP_000337.1 P48436 SOX9_HUMAN SRY (sex determining region Y)-box 9 247 cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction nucleus|protein complex core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2) 26 Colorectal(1115;0.245) STAD - Stomach adenocarcinoma(260;0.119) GACGTGCAGCCGGGCAAGGCT 0.632 5 190 --- --- --- --- RECQL5 9400 broad.mit.edu 37 17 73658781 73658781 + Silent SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr17:73658781C>A ENST00000420326.2 - 4 708 c.549G>T c.(547-549)ctG>ctT p.L183L RECQL5_ENST00000423245.2_Silent_p.L156L|RECQL5_ENST00000584999.1_Silent_p.L183L|RECQL5_ENST00000317905.5_Silent_p.L183L|RECQL5_ENST00000340830.5_Silent_p.L183L NM_001003715.3|NM_001003716.3 NP_001003715.1|NP_001003716.1 O94762 RECQ5_HUMAN RecQ protein-like 5 183 Helicase ATP-binding. DNA recombination|DNA repair cytoplasm|nuclear membrane|nucleolus|nucleoplasm ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 36 all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09) all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112) GGGCATGTCCCAGGCGGGAGC 0.577 Other identified genes with known or suspected DNA repair function 8 244 --- --- --- --- RNF213 57674 broad.mit.edu 37 17 78354681 78354681 + Missense_Mutation SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr17:78354681G>T ENST00000582970.1 + 56 13834 c.13691G>T c.(13690-13692)cGg>cTg p.R4564L CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.R4613L|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.R2637L NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 0 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) AACCCGCAGCGGAGAGACGTG 0.607 5 263 --- --- --- --- ALYREF 10189 broad.mit.edu 37 17 79848574 79848574 + Silent SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr17:79848574G>T ENST00000331204.4 - 2 386 c.360C>A c.(358-360)gcC>gcA p.A120A ALYREF_ENST00000505490.2_Silent_p.A127A|ALYREF_ENST00000512673.1_5'UTR NM_005782.3 NP_005773.3 Q86V81 THOC4_HUMAN Aly/REF export factor 120 Ala/Arg/Gly-rich.|RRM. intronless viral mRNA export from host nucleus|mRNA 3'-end processing|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nuclear speck|transcription export complex nucleotide binding|protein binding|RNA binding CCTGAATATCGGCGTCTGAGA 0.592 5 91 --- --- --- --- MC5R 4161 broad.mit.edu 37 18 13826433 13826433 + Silent SNP C C A rs142471410 TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr18:13826433C>A ENST00000324750.3 + 1 891 c.669C>A c.(667-669)ccC>ccA p.P223P NM_005913.2 NP_005904.1 P33032 MC5R_HUMAN melanocortin 5 receptor 223 ALPGASSARQRTSM -> LCPGPALRGRGPAW (in Ref. 1). G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocortin receptor activity|protein binding p.P223P(1) NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1) 41 CGGCTCTGCCCGGGGCCAGCT 0.622 6 274 --- --- --- --- DCC 1630 broad.mit.edu 37 18 50848421 50848421 + Silent SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr18:50848421G>T ENST00000442544.2 + 14 2674 c.2058G>T c.(2056-2058)ctG>ctT p.L686L DCC_ENST00000581580.1_Silent_p.L341L|DCC_ENST00000412726.1_Silent_p.L534L NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 686 Fibronectin type-III 3. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) TCATAGGACTGGAGAAAGGAA 0.438 5 99 --- --- --- --- WDR7 23335 broad.mit.edu 37 18 54591261 54591261 + Missense_Mutation SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr18:54591261G>T ENST00000254442.3 + 22 3846 c.3635G>T c.(3634-3636)tGg>tTg p.W1212L WDR7_ENST00000357574.3_Missense_Mutation_p.W1179L|WDR7_ENST00000589935.1_Intron NM_015285.2 NP_056100.2 Q9Y4E6 WDR7_HUMAN WD repeat domain 7 1212 NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 78 Lung(128;0.0238)|Colorectal(16;0.0296) TTCACTGTTTGGGAGCCTTAC 0.502 6 165 --- --- --- --- MCOLN1 57192 broad.mit.edu 37 19 7595295 7595295 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr19:7595295C>A ENST00000264079.6 + 12 1608 c.1483C>A c.(1483-1485)Cag>Aag p.Q495K NM_020533.2 NP_065394.1 Q9GZU1 MCLN1_HUMAN mucolipin 1 495 calcium ion transport|cellular iron ion homeostasis|transferrin transport integral to plasma membrane|late endosome membrane|lysosomal membrane cation channel activity|iron ion transmembrane transporter activity breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 GCTCTTCTCCCAGCTCTACCT 0.587 8 349 --- --- --- --- FCER2 2208 broad.mit.edu 37 19 7764643 7764643 + Nonsense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr19:7764643C>A ENST00000346664.5 - 2 216 c.4G>T c.(4-6)Gag>Tag p.E2* FCER2_ENST00000597921.1_Nonsense_Mutation_p.E2* NM_001220500.1|NM_002002.4 NP_001207429.1|NP_001993.2 P06734 FCER2_HUMAN Fc fragment of IgE, low affinity II, receptor for (CD23) 2 positive regulation of killing of cells of other organism|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of nitric-oxide synthase activity extracellular region|integral to plasma membrane IgE binding|integrin binding|receptor activity|sugar binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1) 10 TGACCTTCCTCCATGGCGGTC 0.542 6 73 --- --- --- --- MUC16 94025 broad.mit.edu 37 19 9050229 9050229 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr19:9050229C>A ENST00000397910.4 - 5 31605 c.31402G>T c.(31402-31404)Ggg>Tgg p.G10468W NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 10470 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CTTTTTGTCCCTCCTGTGTGT 0.468 7 305 --- --- --- --- ICAM3 3385 broad.mit.edu 37 19 10445903 10445903 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr19:10445903C>A ENST00000589261.1 - 4 1077 c.545G>T c.(544-546)gGg>gTg p.G182V ICAM3_ENST00000160262.5_Missense_Mutation_p.G259V P32942 ICAM3_HUMAN intercellular adhesion molecule 3 259 Ig-like C2-type 2. cell-cell adhesion|regulation of immune response integral to plasma membrane integrin binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2) 13 OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05) CATCTGGTCCCCCAGCGCCAG 0.662 7 170 --- --- --- --- ZNF69 7620 broad.mit.edu 37 19 12015573 12015573 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr19:12015573C>A ENST00000429654.2 + 4 501 c.361C>A c.(361-363)Cct>Act p.P121T ZNF69_ENST00000340180.5_Missense_Mutation_p.P107T Q9UC07 ZNF69_HUMAN zinc finger protein 69 121 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|large_intestine(1)|skin(2) 4 Lung(535;0.011) GAAAGCTTCTCCTGAAATAAA 0.398 6 193 --- --- --- --- C19orf57 79173 broad.mit.edu 37 19 14006305 14006305 + Missense_Mutation SNP T T G TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr19:14006305T>G ENST00000454313.1 - 3 144 c.86A>C c.(85-87)tAt>tCt p.Y29S C19orf57_ENST00000346736.2_Missense_Mutation_p.Y29S|C19orf57_ENST00000591586.1_Missense_Mutation_p.Y29S|C19orf57_ENST00000586783.1_Missense_Mutation_p.Y29S Q0VDD7 CS057_HUMAN chromosome 19 open reading frame 57 29 multicellular organismal development protein binding breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(19;2e-21) GGGGTCCCCATAGAAGTCTCC 0.547 8 232 --- --- --- --- AKAP8L 26993 broad.mit.edu 37 19 15512026 15512026 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr19:15512026C>A ENST00000397410.5 - 5 881 c.751G>T c.(751-753)Ggg>Tgg p.G251W AKAP8L_ENST00000595465.2_Missense_Mutation_p.G190W|AKAP8L_ENST00000595879.1_5'UTR NM_014371.2 NP_055186.2 Q9ULX6 AKP8L_HUMAN A kinase (PRKA) anchor protein 8-like cytoplasm|nuclear matrix DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1) 11 TTGCCAAACCCGAAACCAAAG 0.627 8 298 --- --- --- --- KLHL26 55295 broad.mit.edu 37 19 18775156 18775156 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr19:18775156C>A ENST00000300976.4 + 2 259 c.169C>A c.(169-171)Cgc>Agc p.R57S KLHL26_ENST00000599006.1_Missense_Mutation_p.R57S|KLHL26_ENST00000595182.1_Missense_Mutation_p.R57S|KLHL26_ENST00000596843.1_3'UTR NM_018316.1 NP_060786.1 Q53HC5 KLH26_HUMAN kelch-like family member 26 57 breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 17 GGCCACCCTCCGCGCTCAGGG 0.632 5 187 --- --- --- --- GMIP 51291 broad.mit.edu 37 19 19741286 19741286 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr19:19741286C>A ENST00000203556.4 - 20 2670 c.2533G>T c.(2533-2535)Ggg>Tgg p.G845W GMIP_ENST00000587238.1_Missense_Mutation_p.G819W|GMIP_ENST00000445806.2_Missense_Mutation_p.G816W NM_016573.2 NP_057657.2 Q9P107 GMIP_HUMAN GEM interacting protein 845 negative regulation of Rho GTPase activity|small GTPase mediated signal transduction cytosol metal ion binding|protein binding|Rho GTPase activator activity breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 TCACCTTCCCCTCCCCCATCT 0.537 7 115 --- --- --- --- TSHZ3 57616 broad.mit.edu 37 19 31769525 31769525 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr19:31769525C>A ENST00000240587.4 - 2 1501 c.1174G>T c.(1174-1176)Ggg>Tgg p.G392W NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 392 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) TGCGAGCTCCCACACTCCATG 0.547 6 187 --- --- --- --- SLC7A10 56301 broad.mit.edu 37 19 33706825 33706825 + Nonsense_Mutation SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr19:33706825G>T ENST00000253188.4 - 2 352 c.206C>A c.(205-207)tCa>tAa p.S69* NM_019849.2 NP_062823.1 Q9NS82 AAA1_HUMAN solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10 blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration integral to plasma membrane L-serine transmembrane transporter activity central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1) 18 Esophageal squamous(110;0.137) CACGGAGCCTGAGTGCTCCAG 0.667 4 30 --- --- --- --- GPI 2821 broad.mit.edu 37 19 34884859 34884859 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr19:34884859C>A ENST00000415930.3 + 12 1153 c.983C>A c.(982-984)cCc>cAc p.P328H GPI_ENST00000586425.1_Missense_Mutation_p.P317H|GPI_ENST00000356487.5_Missense_Mutation_p.P317H NM_001184722.1 NP_001171651.1 P06744 G6PI_HUMAN glucose-6-phosphate isomerase 317 angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response cytosol|extracellular space|nucleus|plasma membrane cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 25 Esophageal squamous(110;0.162) AAGAACGCCCCCGTCTTGCTG 0.617 6 151 --- --- --- --- MAG 4099 broad.mit.edu 37 19 35786796 35786796 + Silent SNP C C A rs11550209 TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr19:35786796C>A ENST00000361922.4 + 4 477 c.327C>A c.(325-327)ccC>ccA p.P109P MAG_ENST00000597035.1_Intron|MAG_ENST00000537831.2_Silent_p.P84P|MAG_ENST00000392213.3_Silent_p.P109P NM_080600.2 NP_542167.1 P20916 MAG_HUMAN myelin associated glycoprotein 109 Ig-like V-type. blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway integral to membrane|plasma membrane sugar binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2) 34 all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162) Renal(1328;0.242) Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) ACGTCAGCCCCGAGCTGGGCG 0.647 5 188 --- --- --- --- ATP4A 495 broad.mit.edu 37 19 36046700 36046700 + Silent SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr19:36046700C>A ENST00000262623.3 - 13 1912 c.1884G>T c.(1882-1884)acG>acT p.T628T NM_000704.2 NP_000695.2 P20648 ATP4A_HUMAN ATPase, H+/K+ exchanging, alpha polypeptide 628 ATP biosynthetic process|ATP hydrolysis coupled proton transport integral to plasma membrane ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 53 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831) GGTGGTCACCCGTTACCATGA 0.602 6 206 --- --- --- --- FAM98C 147965 broad.mit.edu 37 19 38895577 38895577 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr19:38895577C>A ENST00000252530.5 + 4 398 c.379C>A c.(379-381)Cgc>Agc p.R127S FAM98C_ENST00000585954.1_3'UTR|FAM98C_ENST00000343358.7_Missense_Mutation_p.R127S|FAM98C_ENST00000588262.1_Intron NM_174905.3 NP_777565.3 Q17RN3 FA98C_HUMAN family with sequence similarity 98, member C 127 endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 15 all_cancers(60;3.95e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) CCAAGCCACCCGCCTCCTGTG 0.572 7 282 --- --- --- --- ACTN4 81 broad.mit.edu 37 19 39219698 39219698 + Silent SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr19:39219698C>A ENST00000252699.2 + 20 2557 c.2481C>A c.(2479-2481)acC>acA p.T827T ACTN4_ENST00000497637.1_3'UTR|ACTN4_ENST00000390009.3_Silent_p.T608T|ACTN4_ENST00000424234.2_Silent_p.T437T NM_004924.4 NP_004915.2 O43707 ACTN4_HUMAN actinin, alpha 4 827 EF-hand 2. platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3) 30 all_cancers(60;1.57e-05)|Ovarian(47;0.103) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) GCCTTGTGACCTTCCAAGCCT 0.597 6 153 --- --- --- --- SAMD4B 55095 broad.mit.edu 37 19 39870679 39870679 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr19:39870679C>A ENST00000314471.6 + 12 2639 c.1604C>A c.(1603-1605)cCg>cAg p.P535Q SAMD4B_ENST00000598913.1_Missense_Mutation_p.P535Q|SAMD4B_ENST00000596368.1_Intron NM_018028.2 NP_060498.2 Q5PRF9 SMAG2_HUMAN sterile alpha motif domain containing 4B 535 protein binding autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2) 15 all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199) CGGACATTCCCGCGCAAAGCC 0.577 4 41 --- --- --- --- SHKBP1 92799 broad.mit.edu 37 19 41096743 41096743 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr19:41096743C>A ENST00000291842.5 + 17 1925 c.1876C>A c.(1876-1878)Cgc>Agc p.R626S SHKBP1_ENST00000600733.1_Missense_Mutation_p.R601S NM_138392.3 NP_612401.2 Q8TBC3 SHKB1_HUMAN SH3KBP1 binding protein 1 626 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1) 29 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) CCCCTCACCCCGCATCTCCCT 0.647 4 71 --- --- --- --- CEACAM5 1048 broad.mit.edu 37 19 42222166 42222166 + Missense_Mutation SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr19:42222166G>T ENST00000221992.6 + 6 1471 c.1357G>T c.(1357-1359)Ggg>Tgg p.G453W CEACAM5_ENST00000405816.1_Missense_Mutation_p.G453W|CEACAM5_ENST00000398599.4_Missense_Mutation_p.G452W|CEA_ENST00000598976.1_Intron NM_004363.2 NP_004354.2 P06731 CEAM5_HUMAN carcinoembryonic antigen-related cell adhesion molecule 5 453 Ig-like 5. anchored to membrane|basolateral plasma membrane|integral to plasma membrane breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 34 OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142) GCTGATTGATGGGAACATCCA 0.517 5 89 --- --- --- --- CEACAM1 634 broad.mit.edu 37 19 43031277 43031277 + Missense_Mutation SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr19:43031277G>T ENST00000161559.6 - 2 474 c.340C>A c.(340-342)Cag>Aag p.Q114K LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000594688.1_RNA|CEACAM1_ENST00000358394.3_Missense_Mutation_p.Q114K|CEACAM1_ENST00000351134.3_Missense_Mutation_p.Q114K|CEACAM1_ENST00000403461.1_Missense_Mutation_p.Q114K|CEACAM1_ENST00000352591.5_Missense_Mutation_p.Q114K|CEACAM1_ENST00000599389.1_Missense_Mutation_p.Q114K|CEACAM1_ENST00000403444.3_Missense_Mutation_p.Q114K|CEACAM1_ENST00000308072.4_Missense_Mutation_p.Q74K NM_001712.4 NP_001703.2 P13688 CEAM1_HUMAN carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein) 114 Ig-like V-type. angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway extracellular region|integral to plasma membrane|membrane fraction breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 17 Prostate(69;0.00682) GBM - Glioblastoma multiforme(486;0.00148) Arcitumomab(DB00113) GTGTCATTCTGGGTGACGTTC 0.473 9 412 --- --- --- --- PSG3 5671 broad.mit.edu 37 19 43243013 43243013 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr19:43243013C>A ENST00000327495.5 - 2 477 c.293G>T c.(292-294)cGa>cTa p.R98L PSG3_ENST00000490592.1_5'UTR|PSG3_ENST00000595140.1_Missense_Mutation_p.R98L NM_021016.3 NP_066296.2 Q16557 PSG3_HUMAN pregnancy specific beta-1-glycoprotein 3 98 Ig-like V-type. defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 36 Prostate(69;0.00682) TACTGTTTCTCGTCCACTGTA 0.448 8 567 --- --- --- --- PSG8 440533 broad.mit.edu 37 19 43268158 43268158 + Missense_Mutation SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr19:43268158G>T ENST00000404209.4 - 2 436 c.340C>A c.(340-342)Cag>Aag p.Q114K PSG8_ENST00000406636.3_Intron|PSG8_ENST00000306511.4_Missense_Mutation_p.Q114K|PSG8_ENST00000401467.2_Missense_Mutation_p.Q114K NM_001130167.1 NP_001123639.1 Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 114 Ig-like V-type. extracellular region breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 40 Prostate(69;0.00899) GCGTCTTCCTGGGTGACATTC 0.418 8 479 --- --- --- --- PSG5 5673 broad.mit.edu 37 19 43680257 43680257 + Silent SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr19:43680257G>T ENST00000404580.1 - 3 562 c.474C>A c.(472-474)ccC>ccA p.P158P PSG5_ENST00000407356.1_Silent_p.P158P|PSG5_ENST00000407568.1_Intron|PSG5_ENST00000342951.6_Silent_p.P158P|PSG5_ENST00000366175.3_Silent_p.P158P|PSG5_ENST00000599812.1_Silent_p.P251P Q15238 PSG5_HUMAN pregnancy specific beta-1-glycoprotein 5 158 Ig-like C2-type 1. female pregnancy extracellular region p.P158P(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(69;0.00899) TATTCTCCCTGGGTTTTGAGT 0.493 10 348 --- --- --- --- PPFIA3 8541 broad.mit.edu 37 19 49646129 49646129 + Missense_Mutation SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr19:49646129G>T ENST00000334186.4 + 21 2962 c.2613G>T c.(2611-2613)atG>atT p.M871I PPFIA3_ENST00000602351.1_Missense_Mutation_p.M871I NM_003660.2 NP_003651.1 O75145 LIPA3_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3 871 SAM 1. cell surface|cytoplasm protein binding NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1) 35 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677) GTGCCATCATGGCCAACCTGT 0.642 5 96 --- --- --- --- KLK14 43847 broad.mit.edu 37 19 51585865 51585865 + Missense_Mutation SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr19:51585865G>T ENST00000391802.1 - 3 273 c.55C>A c.(55-57)Ctc>Atc p.L19I KLK14_ENST00000156499.2_Missense_Mutation_p.L19I NM_022046.4 NP_071329.2 Q9P0G3 KLK14_HUMAN kallikrein-related peptidase 14 19 epidermis morphogenesis|fertilization|negative regulation of G-protein coupled receptor protein signaling pathway|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis|seminal clot liquefaction extracellular space serine-type endopeptidase activity kidney(4)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1) 11 all_neural(266;0.0199) OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00422) GTCAGCAGGAGGAACATTTTA 0.537 5 84 --- --- --- --- SIGLEC8 27181 broad.mit.edu 37 19 51960476 51960476 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr19:51960476C>A ENST00000321424.3 - 3 809 c.743G>T c.(742-744)tGg>tTg p.W248L SIGLEC8_ENST00000597352.1_5'UTR|SIGLEC8_ENST00000430817.1_Intron|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.W155L NM_014442.2 NP_055257.2 Q9NYZ4 SIGL8_HUMAN sialic acid binding Ig-like lectin 8 248 Ig-like C2-type 2. cell adhesion integral to membrane sugar binding|transmembrane receptor activity NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2) 50 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) GGTCAAGTTCCAAGGAGGGTC 0.562 6 89 --- --- --- --- ZNF816 125893 broad.mit.edu 37 19 53456131 53456131 + Splice_Site SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr19:53456131C>A ENST00000357666.4 - 4 364 c.e4-1 ZNF816_ENST00000535506.1_Splice_Site|ZNF321P_ENST00000391777.3_Splice_Site|ZNF816_ENST00000391786.2_Intron|ZNF816_ENST00000438970.2_Splice_Site|ZNF816_ENST00000270457.4_Splice_Site|ZNF816_ENST00000434371.2_Splice_Site|ZNF816_ENST00000444460.2_Splice_Site NM_001031665.2 NP_001026835.1 Q0VGE8 ZN816_HUMAN zinc finger protein 816 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2) 27 TCAAGCGTCCCTAAAATAAAA 0.413 6 139 --- --- --- --- LILRA2 11027 broad.mit.edu 37 19 55086232 55086232 + Silent SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr19:55086232C>A ENST00000251377.3 + 5 520 c.387C>A c.(385-387)ccC>ccA p.P129P LILRA2_ENST00000391738.3_Silent_p.P129P|LILRA2_ENST00000251376.3_Silent_p.P129P|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391737.1_Silent_p.P117P|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000495786.1_3'UTR leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 GBM - Glioblastoma multiforme(193;0.0963) CAGCTCTGCCCAGCCCTGTGG 0.562 6 165 --- --- --- --- NLRP2 55655 broad.mit.edu 37 19 55481486 55481486 + Missense_Mutation SNP C C A rs140778052 byFrequency TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr19:55481486C>A ENST00000543010.1 + 2 246 c.103C>A c.(103-105)Ctg>Atg p.L35M NLRP2_ENST00000391721.4_Missense_Mutation_p.L35M|NLRP2_ENST00000448584.2_Missense_Mutation_p.L35M|NLRP2_ENST00000263437.6_Missense_Mutation_p.L35M|NLRP2_ENST00000537859.1_Missense_Mutation_p.L35M|NLRP2_ENST00000427260.2_Missense_Mutation_p.L35M|NLRP2_ENST00000339757.7_Missense_Mutation_p.L35M|NLRP2_ENST00000538819.1_Missense_Mutation_p.L35M NM_001174081.1 NP_001167552.1 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 35 DAPIN. L -> P (in Ref. 1; AAG15253). apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 11 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) GACCTTCTCCCTGGCACACGA 0.552 6 100 --- --- --- --- NLRP4 147945 broad.mit.edu 37 19 56363700 56363700 + Missense_Mutation SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr19:56363700G>T ENST00000301295.6 + 2 676 c.254G>T c.(253-255)tGc>tTc p.C85F NLRP4_ENST00000346986.5_Missense_Mutation_p.C85F NM_134444.4 NP_604393.2 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 85 DAPIN. ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) AAGGATCTCTGCATGAAGGTC 0.443 27 60 --- --- --- --- ZNF274 10782 broad.mit.edu 37 19 58723010 58723010 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr19:58723010C>A ENST00000326804.4 + 8 1393 c.934C>A c.(934-936)Cgc>Agc p.R312S ZNF274_ENST00000345813.3_Missense_Mutation_p.R280S|ZNF274_ENST00000424679.2_Missense_Mutation_p.R207S|ZNF274_ENST00000597818.1_3'UTR NM_001278734.1|NM_133502.1 NP_001265663.1|NP_598009.1 Q96GC6 ZN274_HUMAN zinc finger protein 274 313 KRAB 2. viral reproduction centrosome|nucleolus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding p.R280S(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1) 21 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215) GACCGAGTACCGCGATGTGAT 0.617 5 135 --- --- --- --- NSFL1C 55968 broad.mit.edu 37 20 1435726 1435726 + Silent SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr20:1435726G>T ENST00000216879.4 - 4 1197 c.330C>A c.(328-330)ccC>ccA p.P110P NSFL1C_ENST00000381658.4_Intron|NSFL1C_ENST00000350991.4_Silent_p.P112P|NSFL1C_ENST00000476071.1_Silent_p.P112P|NSFL1C_ENST00000353088.2_Silent_p.P110P|NSFL1C_ENST00000461211.1_5'UTR NM_016143.4 NP_057227.2 Q9UNZ2 NSF1C_HUMAN NSFL1 (p97) cofactor (p47) 110 chromosome|Golgi stack|nucleus lipid binding|protein binding breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 16 TTTTCTTCCTGGGAGGGCCAA 0.488 8 343 --- --- --- --- KIF16B 55614 broad.mit.edu 37 20 16410600 16410600 + Translation_Start_Site SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr20:16410600C>A ENST00000378003.2 - 0 1487 KIF16B_ENST00000354981.2_Missense_Mutation_p.G444W|KIF16B_ENST00000408042.1_Missense_Mutation_p.G444W|KIF16B_ENST00000355755.3_Missense_Mutation_p.G444W Q96L93 KI16B_HUMAN kinesin family member 16B cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling early endosome membrane|microtubule ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2) 74 ACTCCAATCCCTTCTTTCCTG 0.363 6 79 --- --- --- --- NAA20 51126 broad.mit.edu 37 20 20006388 20006388 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr20:20006388C>A ENST00000398602.2 + 3 745 c.110C>A c.(109-111)cCt>cAt p.P37H NAA20_ENST00000310450.4_Missense_Mutation_p.P49H|NAA20_ENST00000484480.1_3'UTR|NAA20_ENST00000334982.4_Missense_Mutation_p.P49H NM_181527.3 NP_852668.1 P61599 NAA20_HUMAN N(alpha)-acetyltransferase 20, NatB catalytic subunit 49 N-acetyltransferase. cytoplasm|nucleus peptide alpha-N-acetyltransferase activity endometrium(3)|lung(2)|prostate(1) 6 GCAGAGGCACCTGGTGGAGAA 0.383 6 194 --- --- --- --- TGIF2 60436 broad.mit.edu 37 20 35219499 35219499 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr20:35219499C>A ENST00000373874.2 + 3 578 c.379C>A c.(379-381)Ctg>Atg p.L127M RP5-977B1.11_ENST00000561134.1_RNA|TGIF2_ENST00000373872.4_Missense_Mutation_p.L127M|TGIF2-C20orf24_ENST00000558530.1_Intron NM_001199514.1|NM_001199515.1 NP_001186443.1|NP_001186444.1 Q9GZN2 TGIF2_HUMAN TGFB-induced factor homeobox 2 127 Repressive function. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(3)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 14 Breast(12;0.114) Myeloproliferative disorder(115;0.00878) TGTGCTCTCCCTGTCTGTGTG 0.672 6 120 --- --- --- --- DHX35 60625 broad.mit.edu 37 20 37634887 37634887 + Silent SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr20:37634887C>A ENST00000252011.3 + 12 1143 c.1110C>A c.(1108-1110)ccC>ccA p.P370P DHX35_ENST00000373325.2_Silent_p.P370P|DHX35_ENST00000373323.4_Silent_p.P339P NM_021931.3 NP_068750.2 Q9H5Z1 DHX35_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 35 370 Helicase C-terminal. catalytic step 2 spliceosome ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2) 40 Myeloproliferative disorder(115;0.00878) CCTACAATCCCAGGACAGCTA 0.517 7 329 --- --- --- --- CHD6 84181 broad.mit.edu 37 20 40161771 40161771 + Silent SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr20:40161771G>T ENST00000373233.3 - 3 649 c.472C>A c.(472-474)Cgg>Agg p.R158R CHD6_ENST00000309279.7_Silent_p.R158R|CHD6_ENST00000373222.3_Silent_p.R193R NM_032221.3 NP_115597.3 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 158 Lys-rich. chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) GAGGCCTCCCGGGGCTTCCGT 0.587 7 260 --- --- --- --- HNF4A 3172 broad.mit.edu 37 20 43034706 43034706 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr20:43034706C>A ENST00000316099.4 + 2 213 c.124C>A c.(124-126)Cca>Aca p.P42T HNF4A_ENST00000415691.2_Missense_Mutation_p.P42T|HNF4A_ENST00000443598.2_Missense_Mutation_p.P42T|HNF4A_ENST00000457232.1_Missense_Mutation_p.P20T|HNF4A_ENST00000316673.4_Missense_Mutation_p.P20T|HNF4A_ENST00000609795.1_Missense_Mutation_p.P20T NM_000457.4|NM_001258355.1|NM_178849.2 NP_000448.3|NP_001245284.1|NP_849180.1 P41235 HNF4A_HUMAN hepatocyte nuclear factor 4, alpha blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process cytoplasm activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 34 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) AGACACGTCCCCATCAGAAGG 0.632 10 251 --- --- --- --- ELMO2 63916 broad.mit.edu 37 20 45012124 45012124 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr20:45012124C>A ENST00000372176.1 - 10 891 c.423G>T c.(421-423)caG>caT p.Q141H ELMO2_ENST00000290246.6_Missense_Mutation_p.Q229H|ELMO2_ENST00000488853.1_5'UTR|ELMO2_ENST00000439931.2_Missense_Mutation_p.Q229H|ELMO2_ENST00000445496.2_Missense_Mutation_p.Q46H|ELMO2_ENST00000352077.2_Missense_Mutation_p.Q227H|ELMO2_ENST00000396391.1_Missense_Mutation_p.Q229H Q96JJ3 ELMO2_HUMAN engulfment and cell motility 2 229 apoptosis|cell chemotaxis|phagocytosis cytoskeleton|cytosol|membrane lyase activity|receptor tyrosine kinase binding|SH3 domain binding breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1) 16 Myeloproliferative disorder(115;0.0122) TCTGAATCTCCTGGTTGGAGC 0.428 8 174 --- --- --- --- DIDO1 11083 broad.mit.edu 37 20 61511007 61511007 + Nonsense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr20:61511007C>A ENST00000266070.4 - 16 6626 c.6301G>T c.(6301-6303)Gag>Tag p.E2101* DIDO1_ENST00000395343.1_Nonsense_Mutation_p.E2101* NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 2101 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) TCGGGCTCCTCCAGCGGCTTC 0.677 8 258 --- --- --- --- DIDO1 11083 broad.mit.edu 37 20 61513279 61513279 + Silent SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr20:61513279G>T ENST00000266070.4 - 16 4354 c.4029C>A c.(4027-4029)ccC>ccA p.P1343P DIDO1_ENST00000395343.1_Silent_p.P1343P NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 1343 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) TGGGCTCCTGGGGGAGACCTG 0.582 7 168 --- --- --- --- C21orf62 56245 broad.mit.edu 37 21 34166417 34166417 + Missense_Mutation SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr21:34166417G>T ENST00000536776.1 - 2 456 c.316C>A c.(316-318)Ctg>Atg p.L106M C21orf62_ENST00000479548.1_Missense_Mutation_p.L106M|C21orf49_ENST00000477513.1_Intron|C21orf62_ENST00000490358.1_Missense_Mutation_p.L106M|C21orf49_ENST00000382375.4_Intron|C21orf49_ENST00000382378.1_Intron|C21orf49_ENST00000382377.3_Intron|C21orf49_ENST00000453404.1_Intron|C21orf62_ENST00000487113.1_Missense_Mutation_p.L106M NM_001162495.2|NM_001162496.2|NM_019596.5 NP_001155967.2|NP_001155968.2|NP_062542.5 Q9NYP8 CU062_HUMAN chromosome 21 open reading frame 62 106 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1) 6 Myeloproliferative disorder(46;0.0255) GTGCTGCACAGGGAAAGCTTC 0.562 5 62 --- --- --- --- BRWD1 54014 broad.mit.edu 37 21 40568278 40568278 + Silent SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr21:40568278C>A ENST00000342449.3 - 41 6795 c.6717G>T c.(6715-6717)acG>acT p.T2239T BRWD1_ENST00000380800.3_Intron|BRWD1_ENST00000333229.2_Intron NM_033656.3 NP_387505.1 Q9NSI6 BRWD1_HUMAN bromodomain and WD repeat domain containing 1 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus p.T2239T(1) cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2) 58 Prostate(19;8.44e-08)|all_epithelial(19;0.223) CCTGATTTCTCGTTTTTATTT 0.393 5 260 --- --- --- --- BRWD1 54014 broad.mit.edu 37 21 40630419 40630419 + Silent SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr21:40630419G>T ENST00000342449.3 - 18 2143 c.2065C>A c.(2065-2067)Cgg>Agg p.R689R BRWD1_ENST00000380800.3_Silent_p.R689R|BRWD1_ENST00000333229.2_Silent_p.R689R NM_033656.3 NP_387505.1 Q9NSI6 BRWD1_HUMAN bromodomain and WD repeat domain containing 1 689 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2) 58 Prostate(19;8.44e-08)|all_epithelial(19;0.223) TTACCTCTCCGGGGTGTTTCT 0.388 5 181 --- --- --- --- PRDM15 63977 broad.mit.edu 37 21 43281789 43281789 + Silent SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr21:43281789C>A ENST00000269844.3 - 7 884 c.774G>T c.(772-774)ctG>ctT p.L258L PRDM15_ENST00000398548.1_Intron|PRDM15_ENST00000422911.1_Intron|PRDM15_ENST00000538201.1_Intron NM_022115.3 NP_071398.3 P57071 PRD15_HUMAN PR domain containing 15 258 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1) 43 CGCTCATCCCCAGCAGCTTGA 0.512 5 74 --- --- --- --- MYO18B 84700 broad.mit.edu 37 22 26422472 26422472 + Silent SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr22:26422472C>A ENST00000335473.7 + 43 6782 c.6532C>A c.(6532-6534)Cgg>Agg p.R2178R MYO18B_ENST00000407587.2_Silent_p.R2179R|MYO18B_ENST00000536101.1_Silent_p.R2178R NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 2178 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 GAGCAGAGCCCGGTCCACCAA 0.537 5 183 --- --- --- --- MYH9 4627 broad.mit.edu 37 22 36718479 36718479 + Missense_Mutation SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr22:36718479G>T ENST00000216181.5 - 6 930 c.700C>A c.(700-702)Cgc>Agc p.R234S NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 234 Myosin head-like. actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 CTCACGAAGCGGGAGGAGTTG 0.657 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 5 86 --- --- --- --- PKDREJ 10343 broad.mit.edu 37 22 46658320 46658320 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr22:46658320C>A ENST00000253255.5 - 1 899 c.900G>T c.(898-900)tgG>tgT p.W300C NM_006071.1 NP_006062.1 Q9NTG1 PKDRE_HUMAN polycystin (PKD) family receptor for egg jelly 300 REJ. acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) CATACACTCCCCACTGTAACG 0.552 7 245 --- --- --- --- TTLL8 164714 broad.mit.edu 37 22 50480096 50480096 + Missense_Mutation SNP C C T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr22:50480096C>T ENST00000266182.6 - 7 783 c.784G>A c.(784-786)Gag>Aag p.E262K TTLL8_ENST00000440475.1_Missense_Mutation_p.E262K tubulin tyrosine ligase-like family, member 8 NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4) 12 all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162) READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226) CACTCGGCCTCAGTGAGGTCC 0.607 5 27 --- --- --- --- STS 412 broad.mit.edu 37 X 7171276 7171276 + Missense_Mutation SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chrX:7171276G>T ENST00000217961.4 + 2 271 c.51G>T c.(49-51)tgG>tgT p.W17C NM_000351.4 NP_000342.2 P08842 STS_HUMAN steroid sulfatase (microsomal), isozyme S 17 female pregnancy|steroid catabolic process endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane metal ion binding|steryl-sulfatase activity NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1) 27 Colorectal(8;0.0136)|Medulloblastoma(8;0.184) Estrone(DB00655) TCTTTCTGTGGGAAGCCGAGA 0.493 Ichthyosis 4 29 --- --- --- --- PPEF1 5475 broad.mit.edu 37 X 18775837 18775837 + Silent SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chrX:18775837C>A ENST00000361511.4 + 8 983 c.489C>A c.(487-489)ccC>ccA p.P163P PPEF1_ENST00000544635.1_Silent_p.P98P|PPEF1_ENST00000359763.6_Silent_p.P110P|PPEF1_ENST00000349874.5_Silent_p.P163P|PPEF1_ENST00000543630.1_Silent_p.P163P NM_006240.2|NM_152224.1 NP_006231.2|NP_689410.1 O14829 PPE1_HUMAN protein phosphatase, EF-hand calcium binding domain 1 163 Catalytic. detection of stimulus involved in sensory perception|protein dephosphorylation calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 43 Hepatocellular(33;0.183) AAACTTCTCCCTCCAAAGAGG 0.408 6 108 --- --- --- --- ZFX 7543 broad.mit.edu 37 X 24229057 24229057 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chrX:24229057C>A ENST00000379177.1 + 11 2409 c.1982C>A c.(1981-1983)cCc>cAc p.P661H ZFX_ENST00000540034.1_Missense_Mutation_p.P700H|ZFX_ENST00000539115.1_Missense_Mutation_p.P432H|ZFX_ENST00000379188.3_Missense_Mutation_p.P661H|ZFX_ENST00000304543.5_Missense_Mutation_p.P661H|ZFX_ENST00000338565.3_Missense_Mutation_p.P611H NM_001178085.1|NM_003410.3 NP_001171556.1|NP_003401.2 P17010 ZFX_HUMAN zinc finger protein, X-linked 661 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1) 24 AAAGACTACCCCCATAAGTGT 0.438 5 64 --- --- --- --- SSX5 6758 broad.mit.edu 37 X 48049696 48049696 + Silent SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chrX:48049696G>T ENST00000311798.1 - 7 514 c.462C>A c.(460-462)ccC>ccA p.P154P SSX5_ENST00000347757.1_Silent_p.P113P|SSX5_ENST00000376923.1_Silent_p.P113P NM_021015.3 NP_066295.3 O60225 SSX5_HUMAN synovial sarcoma, X breakpoint 5 113 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1) 18 CTGGCTTCTCGGGCGTGATCT 0.433 5 168 --- --- --- --- FOXR2 139628 broad.mit.edu 37 X 55651014 55651014 + Silent SNP T T G TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chrX:55651014T>G ENST00000339140.3 + 1 1182 c.870T>G c.(868-870)gcT>gcG p.A290A NM_198451.3 NP_940853.1 Q6PJQ5 FOXR2_HUMAN forkhead box R2 290 embryo development|organ 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 biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 19 TAGCCTTTGCTCAAAGGGAGA 0.493 17 15 --- --- --- --- ZDHHC15 158866 broad.mit.edu 37 X 74637002 74637002 + Missense_Mutation SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chrX:74637002G>T ENST00000541184.1 - 9 1337 c.860C>A c.(859-861)cCt>cAt p.P287H ZDHHC15_ENST00000373361.3_3'UTR|ZDHHC15_ENST00000373367.3_Missense_Mutation_p.P296H NM_001146256.1 NP_001139728.1 Q96MV8 ZDH15_HUMAN zinc finger, DHHC-type containing 15 296 integral to membrane zinc ion binding central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2) 26 AGACCTCATAGGGAAGGAGTG 0.443 6 95 --- --- --- --- ATP7A 538 broad.mit.edu 37 X 77254141 77254141 + Silent SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chrX:77254141C>A ENST00000341514.6 + 5 1658 c.1503C>A c.(1501-1503)tcC>tcA p.S501S ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Silent_p.S501S NM_000052.5 NP_000043.4 Q04656 ATP7A_HUMAN ATPase, Cu++ transporting, alpha polypeptide 501 HMA 5. ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1) 53 CTTGCGCTTCCTGTGTAGCAA 0.403 6 134 --- --- --- --- BRWD3 254065 broad.mit.edu 37 X 79937586 79937586 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chrX:79937586C>A ENST00000373275.4 - 39 4621 c.4405G>T c.(4405-4407)Ggg>Tgg p.G1469W BRWD3_ENST00000473691.1_5'UTR NM_153252.4 NP_694984 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 1469 breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3) 87 TTCTGCTTCCCTTTTGGACTA 0.358 5 46 --- --- --- --- GPR112 139378 broad.mit.edu 37 X 135428404 135428404 + Missense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chrX:135428404C>A ENST00000394143.1 + 6 2830 c.2539C>A c.(2539-2541)Cat>Aat p.H847N GPR112_ENST00000412101.1_Missense_Mutation_p.H642N|GPR112_ENST00000394141.1_Missense_Mutation_p.H642N|GPR112_ENST00000287534.4_Missense_Mutation_p.H784N|GPR112_ENST00000370652.1_Missense_Mutation_p.H847N NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 847 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) AGCAACTTCCCATTATCTTAT 0.418 6 119 --- --- --- --- MAMLD1 10046 broad.mit.edu 37 X 149638074 149638074 + Missense_Mutation SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chrX:149638074G>T ENST00000370401.2 + 4 539 c.229G>T c.(229-231)Ggg>Tgg p.G77W MAMLD1_ENST00000468306.1_3'UTR|MAMLD1_ENST00000262858.5_Missense_Mutation_p.G77W|MAMLD1_ENST00000426613.2_Missense_Mutation_p.G52W|MAMLD1_ENST00000432680.2_Missense_Mutation_p.G52W Q13495 MAMD1_HUMAN mastermind-like domain containing 1 77 male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus p.G5fs*36(1)|p.G78fs*36(1) breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2) 37 Acute lymphoblastic leukemia(192;6.56e-05) CATGGCTGATGGGGGCTACCC 0.493 5 77 --- --- --- --- NBPF1 55672 broad.mit.edu 37 1 16893822 16893822 + Frame_Shift_Del DEL C C - TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr1:16893822delC ENST00000430580.2 - 25 3578 c.2691delG c.(2689-2691)gagfs p.E897fs NBPF1_ENST00000432949.1_3'UTR|NBPF1_ENST00000420031.2_3'UTR NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 897 NBPF 5. cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) CAGGCCCTTTCTCATCCAGCA 0.493 9 1785 --- --- --- --- NT5DC3 51559 broad.mit.edu 37 12 104192373 104192374 + Frame_Shift_Del DEL AA AA - TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr12:104192373_104192374delAA ENST00000392876.3 - 5 646_647 c.606_607delTT c.(604-609)ttttacfs p.FY202fs NT5DC3_ENST00000465502.1_5'UTR NM_001031701.2 NP_001026871.1 Q86UY8 NT5D3_HUMAN 5'-nucleotidase domain containing 3 202 hydrolase activity|metal ion binding NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2) 30 ACCTTTCCGTAAAAGTCACTCA 0.441 8 89 --- --- --- --- ZNF568 374900 broad.mit.edu 37 19 37440624 37440627 + Frame_Shift_Del DEL ACTT ACTT - TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr19:37440624_37440627delACTT ENST00000415168.1 + 5 753_756 c.377_380delACTT c.(376-381)gacttafs p.DL126fs ZNF568_ENST00000333987.7_Frame_Shift_Del_p.DL190fs|ZNF568_ENST00000427117.1_Intron|ZNF568_ENST00000455427.2_Intron NM_001204837.1 NP_001191766.1 Q3ZCX4 ZN568_HUMAN zinc finger protein 568 190 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1) 29 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CATAATTTAGACTTACTTAGATAT 0.363 34 93 --- --- --- ---